Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 18847 deletion NM_000081.3(LYST):c.1467delG (p.Glu489Aspfs) 80338644 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972651 235972651 C - 18847 deletion NM_000081.3(LYST):c.1467delG (p.Glu489Aspfs) 80338644 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809351 235809351 C - 18848 single nucleotide variant NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter) 80338652 MedGen:CN068762;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969126 235969126 G A 18848 single nucleotide variant NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter) 80338652 MedGen:CN068762;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235805826 235805826 G A 18849 duplication NM_000081.3(LYST):c.118dupG (p.Ala40Glyfs) 80338642 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235993600 235993600 C CC 18849 duplication NM_000081.3(LYST):c.118dupG (p.Ala40Glyfs) 80338642 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235830300 235830300 C CC 18850 duplication NM_000081.3(LYST):c.1902dupA (p.Ala635Serfs) 80338646 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972216 235972216 T TT 18850 duplication NM_000081.3(LYST):c.1902dupA (p.Ala635Serfs) 80338646 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235808916 235808916 T TT 18851 deletion NM_000081.3(LYST):c.9590delA (p.Tyr3197Leufs) 80338667 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235880049 235880049 T - 18851 deletion NM_000081.3(LYST):c.9590delA (p.Tyr3197Leufs) 80338667 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235716749 235716749 T - 18852 single nucleotide variant NM_000081.3(LYST):c.148C>T (p.Arg50Ter) 80338643 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235993570 235993570 G A 18852 single nucleotide variant NM_000081.3(LYST):c.148C>T (p.Arg50Ter) 80338643 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235830270 235830270 G A 18853 single nucleotide variant NM_000081.3(LYST):c.3085C>T (p.Gln1029Ter) 80338651 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969351 235969351 G A 18853 single nucleotide variant NM_000081.3(LYST):c.3085C>T (p.Gln1029Ter) 80338651 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806051 235806051 G A 18854 deletion NM_000081.3(LYST):c.2623delT (p.Tyr875Metfs) 80338649 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969813 235969813 A - 18854 deletion NM_000081.3(LYST):c.2623delT (p.Tyr875Metfs) 80338649 MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806513 235806513 A - 18855 single nucleotide variant NM_000081.3(LYST):c.4688G>A (p.Arg1563His) 80338657 MedGen:CN068762;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235952001 235952001 C T 18855 single nucleotide variant NM_000081.3(LYST):c.4688G>A (p.Arg1563His) 80338657 MedGen:CN068762;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235788701 235788701 C T 18856 single nucleotide variant NM_000081.3(LYST):c.5996T>A (p.Val1999Asp) 28942077 MedGen:CN068762;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235929504 235929504 A T 18856 single nucleotide variant NM_000081.3(LYST):c.5996T>A (p.Val1999Asp) 28942077 MedGen:CN068762;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235766204 235766204 A T 49401 deletion NM_000081.3(LYST):c.9107_9162del56 (p.Gly3036Glufs) 80338665 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235891376 235891431 na na 49401 deletion NM_000081.3(LYST):c.9107_9162del56 (p.Gly3036Glufs) 80338665 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235728076 235728131 na na 76437 single nucleotide variant NM_000081.3(LYST):c.10127A>G (p.Asn3376Ser) 80338669 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235872407 235872407 T C 76437 single nucleotide variant NM_000081.3(LYST):c.10127A>G (p.Asn3376Ser) 80338669 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235709107 235709107 T C 76438 deletion NM_000081.3(LYST):c.10395delA (p.Gly3466Alafs) 80338670 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235860552 235860552 T - 76438 deletion NM_000081.3(LYST):c.10395delA (p.Gly3466Alafs) 80338670 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235697252 235697252 T - 76441 single nucleotide variant NM_000081.3(LYST):c.1540C>T (p.Arg514Ter) 80338645 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972578 235972578 G A 76441 single nucleotide variant NM_000081.3(LYST):c.1540C>T (p.Arg514Ter) 80338645 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809278 235809278 G A 76443 deletion NM_000081.3(LYST):c.2413delG (p.Glu805Asnfs) 80338647 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235970023 235970023 C - 76443 deletion NM_000081.3(LYST):c.2413delG (p.Glu805Asnfs) 80338647 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806723 235806723 C - 76444 deletion NM_000081.3(LYST):c.2454delA (p.Ala819Hisfs) 80338648 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969982 235969982 T - 76444 deletion NM_000081.3(LYST):c.2454delA (p.Ala819Hisfs) 80338648 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806682 235806682 T - 76446 deletion NM_000081.3(LYST):c.3073_3074delAA (p.Asn1025Glnfs) 80338650 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969362 235969363 TT - 76446 deletion NM_000081.3(LYST):c.3073_3074delAA (p.Asn1025Glnfs) 80338650 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806062 235806063 TT - 76447 duplication NM_000081.3(LYST):c.3434dupA (p.His1145Glnfs) 80338653 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235967925 235967925 T TT 76447 duplication NM_000081.3(LYST):c.3434dupA (p.His1145Glnfs) 80338653 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235804625 235804625 T TT 76448 single nucleotide variant NM_000081.3(LYST):c.4052C>G (p.Ser1351Ter) 80338654 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235956867 235956867 G C 76448 single nucleotide variant NM_000081.3(LYST):c.4052C>G (p.Ser1351Ter) 80338654 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235793567 235793567 G C 76449 deletion NM_000081.3(LYST):c.4274delT (p.Leu1425Tyrfs) 80338656 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235955268 235955268 A - 76449 deletion NM_000081.3(LYST):c.4274delT (p.Leu1425Tyrfs) 80338656 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235791968 235791968 A - 76450 single nucleotide variant NM_000081.3(LYST):c.4361C>A (p.Ala1454Asp) 80338655 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235955181 235955181 G T 76450 single nucleotide variant NM_000081.3(LYST):c.4361C>A (p.Ala1454Asp) 80338655 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235791881 235791881 G T 76451 single nucleotide variant NM_000081.3(LYST):c.5061T>A (p.Tyr1687Ter) 80338658 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235944318 235944318 A T 76451 single nucleotide variant NM_000081.3(LYST):c.5061T>A (p.Tyr1687Ter) 80338658 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235781018 235781018 A T 76452 deletion NM_000081.3(LYST):c.5317delA (p.Arg1773Aspfs) 80338659 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235940506 235940506 T - 76452 deletion NM_000081.3(LYST):c.5317delA (p.Arg1773Aspfs) 80338659 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235777206 235777206 T - 76453 single nucleotide variant NM_000081.3(LYST):c.6078C>A (p.Tyr2026Ter) 80338660 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235929422 235929422 G T 76453 single nucleotide variant NM_000081.3(LYST):c.6078C>A (p.Tyr2026Ter) 80338660 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235766122 235766122 G T 76454 deletion NM_000081.3(LYST):c.7060_7066delCTATTAG (p.Leu2354Metfs) 80338661 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235918941 235918947 CTAATAG - 76454 deletion NM_000081.3(LYST):c.7060_7066delCTATTAG (p.Leu2354Metfs) 80338661 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235755641 235755647 CTAATAG - 76455 deletion NM_000081.3(LYST):c.7555delT (p.Tyr2519Ilefs) 80338662 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235915377 235915377 A - 76455 deletion NM_000081.3(LYST):c.7555delT (p.Tyr2519Ilefs) 80338662 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235752077 235752077 A - 76456 single nucleotide variant NM_000081.3(LYST):c.8428G>A (p.Glu2810Lys) 80338663 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235897890 235897890 C T 76456 single nucleotide variant NM_000081.3(LYST):c.8428G>A (p.Glu2810Lys) 80338663 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235734590 235734590 C T 76457 single nucleotide variant NM_000081.3(LYST):c.8583G>A (p.Trp2861Ter) 80338664 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235897159 235897159 C T 76457 single nucleotide variant NM_000081.3(LYST):c.8583G>A (p.Trp2861Ter) 80338664 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235733859 235733859 C T 76458 insertion NM_000081.3(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077Phefs) 80338666 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235887414 235887415 - ACTGAAAGAA 76458 insertion NM_000081.3(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077Phefs) 80338666 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235724114 235724115 - ACTGAAAGAA 76460 deletion NM_000081.3(LYST):c.9893delT (p.Phe3298Serfs) 80338668 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235875389 235875389 A - 76460 deletion NM_000081.3(LYST):c.9893delT (p.Phe3298Serfs) 80338668 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235712089 235712089 A - 178787 single nucleotide variant NM_000081.3(LYST):c.11173G>A (p.Gly3725Arg) 797044542 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235827787 235827787 C T 178787 single nucleotide variant NM_000081.3(LYST):c.11173G>A (p.Gly3725Arg) 797044542 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235664487 235664487 C T 178788 deletion NM_000081.3(LYST):c.9827_9832delATACAA (p.Asn3276_Thr3277del) 797044540 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235875450 235875455 TTGTAT - 178788 deletion NM_000081.3(LYST):c.9827_9832delATACAA (p.Asn3276_Thr3277del) 797044540 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235712150 235712155 TTGTAT - 178789 single nucleotide variant NM_000081.3(LYST):c.8281A>T (p.Arg2761Ter) 797044539 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235904799 235904799 T A 178789 single nucleotide variant NM_000081.3(LYST):c.8281A>T (p.Arg2761Ter) 797044539 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235741499 235741499 T A 178790 single nucleotide variant NM_000081.3(LYST):c.7982C>G (p.Ser2661Ter) 797044538 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235907448 235907448 G C 178790 single nucleotide variant NM_000081.3(LYST):c.7982C>G (p.Ser2661Ter) 797044538 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235744148 235744148 G C 178791 deletion NM_000081.3(LYST):c.5541_5542delAA (p.Arg1848Serfs) 797044537 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235938305 235938306 TT - 178791 deletion NM_000081.3(LYST):c.5541_5542delAA (p.Arg1848Serfs) 797044537 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235775005 235775006 TT - 178792 single nucleotide variant NM_000081.3(LYST):c.5506C>T (p.Arg1836Ter) 757222354 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235938341 235938341 G A 178792 single nucleotide variant NM_000081.3(LYST):c.5506C>T (p.Arg1836Ter) 757222354 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235775041 235775041 G A 178793 duplication NM_000081.3(LYST):c.3944dupC (p.Val1316Cysfs) 797044536 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235963682 235963682 G GG 178793 duplication NM_000081.3(LYST):c.3944dupC (p.Val1316Cysfs) 797044536 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235800382 235800382 G GG 178794 single nucleotide variant NM_000081.3(LYST):c.3622C>T (p.Gln1208Ter) 797044535 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235966298 235966298 G A 178794 single nucleotide variant NM_000081.3(LYST):c.3622C>T (p.Gln1208Ter) 797044535 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235802998 235802998 G A 178795 single nucleotide variant NM_000081.3(LYST):c.925C>T (p.Arg309Ter) 370022675 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235973193 235973193 G A 178795 single nucleotide variant NM_000081.3(LYST):c.925C>T (p.Arg309Ter) 370022675 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809893 235809893 G A 178796 single nucleotide variant NM_000081.3(LYST):c.772T>C (p.Cys258Arg) 797044534 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235973346 235973346 A G 178796 single nucleotide variant NM_000081.3(LYST):c.772T>C (p.Cys258Arg) 797044534 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235810046 235810046 A G 178797 single nucleotide variant NM_000081.3(LYST):c.11102G>T (p.Cys3701Phe) 797044541 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235827858 235827858 C A 178797 single nucleotide variant NM_000081.3(LYST):c.11102G>T (p.Cys3701Phe) 797044541 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235664558 235664558 C A 188801 single nucleotide variant NM_000081.3(LYST):c.6694G>T (p.Gly2232Ter) 748659198 MedGen:CN221809 1 235922459 235922459 C A 188801 single nucleotide variant NM_000081.3(LYST):c.6694G>T (p.Gly2232Ter) 748659198 MedGen:CN221809 1 235759159 235759159 C A 206772 single nucleotide variant NM_000081.3(LYST):c.9017A>G (p.Lys3006Arg) 140934482 MedGen:CN169374 1 235730874 235730874 T C 206772 single nucleotide variant NM_000081.3(LYST):c.9017A>G (p.Lys3006Arg) 140934482 MedGen:CN169374 1 235894174 235894174 T C 206773 single nucleotide variant NM_000081.3(LYST):c.8151T>C (p.Ile2717=) 201045270 MedGen:CN169374 1 235743979 235743979 A G 206773 single nucleotide variant NM_000081.3(LYST):c.8151T>C (p.Ile2717=) 201045270 MedGen:CN169374 1 235907279 235907279 A G 206774 single nucleotide variant NM_000081.3(LYST):c.7467C>T (p.Pro2489=) 797045685 MedGen:CN169374 1 235752165 235752165 G A 206774 single nucleotide variant NM_000081.3(LYST):c.7467C>T (p.Pro2489=) 797045685 MedGen:CN169374 1 235915465 235915465 G A 206775 single nucleotide variant NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) 138443479 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235922443 235922443 T G 206775 single nucleotide variant NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) 138443479 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235759143 235759143 T G 206776 single nucleotide variant NM_000081.3(LYST):c.5945C>T (p.Thr1982Ile) 146591126 MedGen:CN169374 1 235766255 235766255 G A 206776 single nucleotide variant NM_000081.3(LYST):c.5945C>T (p.Thr1982Ile) 146591126 MedGen:CN169374 1 235929555 235929555 G A 206777 duplication NM_000081.3(LYST):c.5461-3dup 557545474 MedGen:CN169374 1 235775089 235775089 A AA 206777 duplication NM_000081.3(LYST):c.5461-3dup 557545474 MedGen:CN169374 1 235938389 235938389 A AA 206778 single nucleotide variant NM_000081.3(LYST):c.2363+4T>C 201398337 MedGen:CN169374 1 235808451 235808451 A G 206778 single nucleotide variant NM_000081.3(LYST):c.2363+4T>C 201398337 MedGen:CN169374 1 235971751 235971751 A G 206779 single nucleotide variant NM_000081.3(LYST):c.1848C>T (p.Asn616=) 376259384 MedGen:CN169374 1 235808970 235808970 G A 206779 single nucleotide variant NM_000081.3(LYST):c.1848C>T (p.Asn616=) 376259384 MedGen:CN169374 1 235972270 235972270 G A 206780 single nucleotide variant NM_000081.3(LYST):c.281C>T (p.Thr94Ile) 777389303 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235812973 235812973 G A 206780 single nucleotide variant NM_000081.3(LYST):c.281C>T (p.Thr94Ile) 777389303 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235976273 235976273 G A 215097 single nucleotide variant NM_000081.3(LYST):c.2971C>A (p.His991Asn) 864309530 Human Phenotype Ontology:HP:0002719,MedGen:C0239998 1 235969465 235969465 G T 215097 single nucleotide variant NM_000081.3(LYST):c.2971C>A (p.His991Asn) 864309530 Human Phenotype Ontology:HP:0002719,MedGen:C0239998 1 235806165 235806165 G T 236927 single nucleotide variant NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) 115330112 MedGen:CN221809;MedGen:CN169374 1 235775029 235775029 A C 236927 single nucleotide variant NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) 115330112 MedGen:CN221809;MedGen:CN169374 1 235938329 235938329 A C 237053 single nucleotide variant NM_000081.3(LYST):c.10941-7C>A 72761794 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN221809 1 235677195 235677195 G T 237053 single nucleotide variant NM_000081.3(LYST):c.10941-7C>A 72761794 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN221809 1 235840495 235840495 G T 237263 single nucleotide variant NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) 34642241 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN221809;MedGen:CN169374 1 235909815 235909815 A T 237263 single nucleotide variant NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) 34642241 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN221809;MedGen:CN169374 1 235746515 235746515 A T 237316 deletion NM_000081.3(LYST):c.6122-13delA 201404906 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN221809;MedGen:CN169374 1 235762864 235762864 T - 237316 deletion NM_000081.3(LYST):c.6122-13delA 201404906 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN221809;MedGen:CN169374 1 235926164 235926164 T - 249774 single nucleotide variant NM_000081.3(LYST):c.11039-24C>T 12088737 MedGen:CN169374 1 235664645 235664645 G A 249774 single nucleotide variant NM_000081.3(LYST):c.11039-24C>T 12088737 MedGen:CN169374 1 235827945 235827945 G A 249775 single nucleotide variant NM_000081.3(LYST):c.10564+43G>A 7541057 MedGen:CN169374 1 235697040 235697040 C T 249775 single nucleotide variant NM_000081.3(LYST):c.10564+43G>A 7541057 MedGen:CN169374 1 235860340 235860340 C T 249776 single nucleotide variant NM_000081.3(LYST):c.10374+33A>G 17615059 MedGen:CN169374 1 235702714 235702714 T C 249776 single nucleotide variant NM_000081.3(LYST):c.10374+33A>G 17615059 MedGen:CN169374 1 235866014 235866014 T C 249777 single nucleotide variant NM_000081.3(LYST):c.10110T>C (p.Ala3370=) 886038227 MedGen:CN169374 1 235709124 235709124 A G 249777 single nucleotide variant NM_000081.3(LYST):c.10110T>C (p.Ala3370=) 886038227 MedGen:CN169374 1 235872424 235872424 A G 249778 single nucleotide variant NM_000081.3(LYST):c.8411G>A (p.Gly2804Asp) 35333195 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235734607 235734607 C T 249778 single nucleotide variant NM_000081.3(LYST):c.8411G>A (p.Gly2804Asp) 35333195 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235897907 235897907 C T 249779 single nucleotide variant NM_000081.3(LYST):c.7857T>C (p.His2619=) 34160788 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235746451 235746451 A G 249779 single nucleotide variant NM_000081.3(LYST):c.7857T>C (p.His2619=) 34160788 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235909751 235909751 A G 249780 single nucleotide variant NM_000081.3(LYST):c.7506A>G (p.Gln2502=) 140434436 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235752126 235752126 T C 249780 single nucleotide variant NM_000081.3(LYST):c.7506A>G (p.Gln2502=) 140434436 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235915426 235915426 T C 249781 single nucleotide variant NM_000081.3(LYST):c.7137A>C (p.Leu2379=) 61738992 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235755570 235755570 T G 249781 single nucleotide variant NM_000081.3(LYST):c.7137A>C (p.Leu2379=) 61738992 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235918870 235918870 T G 249782 single nucleotide variant NM_000081.3(LYST):c.7059+7G>A 111764031 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235757274 235757274 C T 249782 single nucleotide variant NM_000081.3(LYST):c.7059+7G>A 111764031 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235920574 235920574 C T 249783 single nucleotide variant NM_000081.3(LYST):c.6900G>A (p.Leu2300=) 10926586 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235757440 235757440 C T 249783 single nucleotide variant NM_000081.3(LYST):c.6900G>A (p.Leu2300=) 10926586 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235920740 235920740 C T 249784 single nucleotide variant NM_000081.3(LYST):c.6881+44A>G 3738519 MedGen:CN169374 1 235758928 235758928 T C 249784 single nucleotide variant NM_000081.3(LYST):c.6881+44A>G 3738519 MedGen:CN169374 1 235922228 235922228 T C 249785 single nucleotide variant NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) 112601869 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235759041 235759041 T C 249785 single nucleotide variant NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) 112601869 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235922341 235922341 T C 249786 single nucleotide variant NM_000081.3(LYST):c.6782G>A (p.Arg2261His) 147791378 MedGen:CN169374 1 235759071 235759071 C T 249786 single nucleotide variant NM_000081.3(LYST):c.6782G>A (p.Arg2261His) 147791378 MedGen:CN169374 1 235922371 235922371 C T 249787 single nucleotide variant NM_000081.3(LYST):c.6630A>G (p.Glu2210=) 34466404 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235759223 235759223 T C 249787 single nucleotide variant NM_000081.3(LYST):c.6630A>G (p.Glu2210=) 34466404 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235922523 235922523 T C 249788 single nucleotide variant NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) 147756847 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235759371 235759371 T G 249788 single nucleotide variant NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) 147756847 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235922671 235922671 T G 249789 single nucleotide variant NM_000081.3(LYST):c.5923-19G>T 141197189 MedGen:CN169374 1 235766296 235766296 C A 249789 single nucleotide variant NM_000081.3(LYST):c.5923-19G>T 141197189 MedGen:CN169374 1 235929596 235929596 C A 249790 single nucleotide variant NM_000081.3(LYST):c.5847G>C (p.Gln1949His) 6665568 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235770235 235770235 C G 249790 single nucleotide variant NM_000081.3(LYST):c.5847G>C (p.Gln1949His) 6665568 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235933535 235933535 C G 249791 single nucleotide variant NM_000081.3(LYST):c.5373G>A (p.Lys1791=) 2273584 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235777150 235777150 C T 249791 single nucleotide variant NM_000081.3(LYST):c.5373G>A (p.Lys1791=) 2273584 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235940450 235940450 C T 249792 single nucleotide variant NM_000081.3(LYST):c.5291G>C (p.Gly1764Ala) 35413645 MedGen:CN169374 1 235777232 235777232 C G 249792 single nucleotide variant NM_000081.3(LYST):c.5291G>C (p.Gly1764Ala) 35413645 MedGen:CN169374 1 235940532 235940532 C G 249793 single nucleotide variant NM_000081.3(LYST):c.5024-43T>G 7543060 MedGen:CN169374 1 235944398 235944398 A C 249793 single nucleotide variant NM_000081.3(LYST):c.5024-43T>G 7543060 MedGen:CN169374 1 235781098 235781098 A C 249794 single nucleotide variant NM_000081.3(LYST):c.5023+41C>T 72763416 MedGen:CN169374 1 235781886 235781886 G A 249794 single nucleotide variant NM_000081.3(LYST):c.5023+41C>T 72763416 MedGen:CN169374 1 235945186 235945186 G A 249795 single nucleotide variant NM_000081.3(LYST):c.4956A>G (p.Leu1652=) 6696123 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235781994 235781994 T C 249795 single nucleotide variant NM_000081.3(LYST):c.4956A>G (p.Leu1652=) 6696123 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235945294 235945294 T C 249796 single nucleotide variant NM_000081.3(LYST):c.4863-19T>C 150288597 MedGen:CN169374 1 235782106 235782106 A G 249796 single nucleotide variant NM_000081.3(LYST):c.4863-19T>C 150288597 MedGen:CN169374 1 235945406 235945406 A G 249797 single nucleotide variant NM_000081.3(LYST):c.4392C>T (p.Asn1464=) 11583387 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235791850 235791850 G A 249797 single nucleotide variant NM_000081.3(LYST):c.4392C>T (p.Asn1464=) 11583387 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235955150 235955150 G A 249798 single nucleotide variant NM_000081.3(LYST):c.3989A>C (p.Asp1330Ala) 74641549 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235800337 235800337 T G 249798 single nucleotide variant NM_000081.3(LYST):c.3989A>C (p.Asp1330Ala) 74641549 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235963637 235963637 T G 249799 single nucleotide variant NM_000081.3(LYST):c.3713-26G>A 9803890 MedGen:CN169374 1 235801123 235801123 C T 249799 single nucleotide variant NM_000081.3(LYST):c.3713-26G>A 9803890 MedGen:CN169374 1 235964423 235964423 C T 249800 single nucleotide variant NM_000081.3(LYST):c.3394-14T>C 372892911 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235804679 235804679 A G 249800 single nucleotide variant NM_000081.3(LYST):c.3394-14T>C 372892911 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235967979 235967979 A G 249801 single nucleotide variant NM_000081.3(LYST):c.3359G>T (p.Ser1120Ile) 143223086 MedGen:CN169374 1 235805777 235805777 C A 249801 single nucleotide variant NM_000081.3(LYST):c.3359G>T (p.Ser1120Ile) 143223086 MedGen:CN169374 1 235969077 235969077 C A 249802 single nucleotide variant NM_000081.3(LYST):c.3050G>A (p.Ser1017Asn) 10465613 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235806086 235806086 C T 249802 single nucleotide variant NM_000081.3(LYST):c.3050G>A (p.Ser1017Asn) 10465613 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235969386 235969386 C T 249803 single nucleotide variant NM_000081.3(LYST):c.2355T>C (p.Leu785=) 3768066 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235808463 235808463 A G 249803 single nucleotide variant NM_000081.3(LYST):c.2355T>C (p.Leu785=) 3768066 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235971763 235971763 A G 249804 single nucleotide variant NM_000081.3(LYST):c.2316C>T (p.Asp772=) 16832868 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235808502 235808502 G A 249804 single nucleotide variant NM_000081.3(LYST):c.2316C>T (p.Asp772=) 16832868 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235971802 235971802 G A 249805 single nucleotide variant NM_000081.3(LYST):c.1686G>C (p.Gln562His) 77091385 MedGen:CN169374 1 235809132 235809132 C G 249805 single nucleotide variant NM_000081.3(LYST):c.1686G>C (p.Gln562His) 77091385 MedGen:CN169374 1 235972432 235972432 C G 249806 single nucleotide variant NM_000081.3(LYST):c.1683A>G (p.Leu561=) 3820553 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235809135 235809135 T C 249806 single nucleotide variant NM_000081.3(LYST):c.1683A>G (p.Leu561=) 3820553 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235972435 235972435 T C 249807 single nucleotide variant NM_000081.3(LYST):c.1251A>G (p.Gln417=) 1063128 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235809567 235809567 T C 249807 single nucleotide variant NM_000081.3(LYST):c.1251A>G (p.Gln417=) 1063128 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235972867 235972867 T C 249808 single nucleotide variant NM_000081.3(LYST):c.574T>G (p.Leu192Val) 7524261 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235810244 235810244 A C 249808 single nucleotide variant NM_000081.3(LYST):c.574T>G (p.Leu192Val) 7524261 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235973544 235973544 A C 249809 single nucleotide variant NM_000081.3(LYST):c.153A>C (p.Gly51=) 11464 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235830265 235830265 T G 249809 single nucleotide variant NM_000081.3(LYST):c.153A>C (p.Gly51=) 11464 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235993565 235993565 T G 249810 single nucleotide variant NM_000081.3(LYST):c.9C>T (p.Thr3=) 33998267 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235830409 235830409 G A 249810 single nucleotide variant NM_000081.3(LYST):c.9C>T (p.Thr3=) 33998267 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235993709 235993709 G A 249811 single nucleotide variant NM_000081.3(LYST):c.-5C>T 141317482 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235830422 235830422 G A 249811 single nucleotide variant NM_000081.3(LYST):c.-5C>T 141317482 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965;MedGen:CN169374 1 235993722 235993722 G A 264000 single nucleotide variant NM_000081.3(LYST):c.10345C>T (p.Arg3449Ter) 754616030 MedGen:CN221809 1 235866076 235866076 G A 264000 single nucleotide variant NM_000081.3(LYST):c.10345C>T (p.Arg3449Ter) 754616030 MedGen:CN221809 1 235702776 235702776 G A 279655 single nucleotide variant NM_000081.3(LYST):c.10657A>G (p.Ser3553Gly) 886046167 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235693394 235693394 T C 279647 single nucleotide variant NM_000081.3(LYST):c.*1379G>C 886046157 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661561 235661561 C G 279647 single nucleotide variant NM_000081.3(LYST):c.*1379G>C 886046157 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824861 235824861 C G 279648 single nucleotide variant NM_000081.3(LYST):c.*1356G>T 886046158 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661584 235661584 C A 279648 single nucleotide variant NM_000081.3(LYST):c.*1356G>T 886046158 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824884 235824884 C A 279650 single nucleotide variant NM_000081.3(LYST):c.*1275T>C 150304907 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661665 235661665 A G 279650 single nucleotide variant NM_000081.3(LYST):c.*1275T>C 150304907 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824965 235824965 A G 279651 single nucleotide variant NM_000081.3(LYST):c.*329A>G 188696852 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662611 235662611 T C 279651 single nucleotide variant NM_000081.3(LYST):c.*329A>G 188696852 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825911 235825911 T C 279652 deletion NM_000081.3(LYST):c.11268-6_11268-5delTT 544050791 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235663083 235663084 AA - 279652 deletion NM_000081.3(LYST):c.11268-6_11268-5delTT 544050791 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235826383 235826384 AA - 279655 single nucleotide variant NM_000081.3(LYST):c.10657A>G (p.Ser3553Gly) 886046167 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235856694 235856694 T C 279656 single nucleotide variant NM_000081.3(LYST):c.9969C>T (p.His3323=) 200610828 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235709265 235709265 G A 279656 single nucleotide variant NM_000081.3(LYST):c.9969C>T (p.His3323=) 200610828 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235872565 235872565 G A 279660 single nucleotide variant NM_000081.3(LYST):c.9542A>G (p.Asn3181Ser) 886046170 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235720679 235720679 T C 279660 single nucleotide variant NM_000081.3(LYST):c.9542A>G (p.Asn3181Ser) 886046170 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235883979 235883979 T C 279662 single nucleotide variant NM_000081.3(LYST):c.9520G>A (p.Val3174Ile) 199672291 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235720701 235720701 C T 279662 single nucleotide variant NM_000081.3(LYST):c.9520G>A (p.Val3174Ile) 199672291 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235884001 235884001 C T 279666 single nucleotide variant NM_000081.3(LYST):c.9045-13T>C 181450025 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235729670 235729670 A G 279666 single nucleotide variant NM_000081.3(LYST):c.9045-13T>C 181450025 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235892970 235892970 A G 279668 single nucleotide variant NM_000081.3(LYST):c.8222G>A (p.Arg2741Gln) 148018560 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235741558 235741558 C T 279668 single nucleotide variant NM_000081.3(LYST):c.8222G>A (p.Arg2741Gln) 148018560 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235904858 235904858 C T 279669 single nucleotide variant NM_000081.3(LYST):c.7806A>G (p.Gln2602=) 372754364 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235746502 235746502 T C 279669 single nucleotide variant NM_000081.3(LYST):c.7806A>G (p.Gln2602=) 372754364 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235909802 235909802 T C 279670 single nucleotide variant NM_000081.3(LYST):c.7368T>C (p.Asn2456=) 199631995 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235753136 235753136 A G 279670 single nucleotide variant NM_000081.3(LYST):c.7368T>C (p.Asn2456=) 199631995 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235916436 235916436 A G 279674 single nucleotide variant NM_000081.3(LYST):c.5676G>A (p.Met1892Ile) 143857674 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235773950 235773950 C T 279674 single nucleotide variant NM_000081.3(LYST):c.5676G>A (p.Met1892Ile) 143857674 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235937250 235937250 C T 279678 single nucleotide variant NM_000081.3(LYST):c.5071C>T (p.Pro1691Ser) 886046177 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235781008 235781008 G A 279678 single nucleotide variant NM_000081.3(LYST):c.5071C>T (p.Pro1691Ser) 886046177 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235944308 235944308 G A 279680 single nucleotide variant NM_000081.3(LYST):c.3757A>C (p.Ser1253Arg) 200984503 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235801053 235801053 T G 279680 single nucleotide variant NM_000081.3(LYST):c.3757A>C (p.Ser1253Arg) 200984503 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235964353 235964353 T G 279684 single nucleotide variant NM_000081.3(LYST):c.3030A>G (p.Gly1010=) 751511204 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806106 235806106 T C 279684 single nucleotide variant NM_000081.3(LYST):c.3030A>G (p.Gly1010=) 751511204 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969406 235969406 T C 279686 single nucleotide variant NM_000081.3(LYST):c.2946T>C (p.Tyr982=) 145892183 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806190 235806190 A G 279686 single nucleotide variant NM_000081.3(LYST):c.2946T>C (p.Tyr982=) 145892183 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969490 235969490 A G 279690 single nucleotide variant NM_000081.3(LYST):c.2870T>C (p.Met957Thr) 201554916 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806266 235806266 A G 279690 single nucleotide variant NM_000081.3(LYST):c.2870T>C (p.Met957Thr) 201554916 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969566 235969566 A G 279692 single nucleotide variant NM_000081.3(LYST):c.2806C>A (p.Pro936Thr) 750810868 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969630 235969630 G T 279692 single nucleotide variant NM_000081.3(LYST):c.2806C>A (p.Pro936Thr) 750810868 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806330 235806330 G T 279693 single nucleotide variant NM_000081.3(LYST):c.2700A>G (p.Leu900=) 111463684 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806436 235806436 T C 279693 single nucleotide variant NM_000081.3(LYST):c.2700A>G (p.Leu900=) 111463684 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969736 235969736 T C 279695 single nucleotide variant NM_000081.3(LYST):c.2630G>C (p.Gly877Ala) 886046180 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806506 235806506 C G 279695 single nucleotide variant NM_000081.3(LYST):c.2630G>C (p.Gly877Ala) 886046180 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969806 235969806 C G 279696 single nucleotide variant NM_000081.3(LYST):c.2313G>A (p.Gln771=) 147220685 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235808505 235808505 C T 279696 single nucleotide variant NM_000081.3(LYST):c.2313G>A (p.Gln771=) 147220685 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235971805 235971805 C T 279698 single nucleotide variant NM_000081.3(LYST):c.1722A>G (p.Leu574=) 762078094 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809096 235809096 T C 279698 single nucleotide variant NM_000081.3(LYST):c.1722A>G (p.Leu574=) 762078094 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972396 235972396 T C 279703 single nucleotide variant NM_000081.3(LYST):c.196T>C (p.Leu66=) 138393416 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235813058 235813058 A G 279703 single nucleotide variant NM_000081.3(LYST):c.196T>C (p.Leu66=) 138393416 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235976358 235976358 A G 279704 single nucleotide variant NM_000081.3(LYST):c.110C>T (p.Thr37Met) 375106444 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235830308 235830308 G A 279704 single nucleotide variant NM_000081.3(LYST):c.110C>T (p.Thr37Met) 375106444 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235993608 235993608 G A 279708 single nucleotide variant NM_000081.3(LYST):c.-7-14T>C 145200338 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235830438 235830438 A G 279708 single nucleotide variant NM_000081.3(LYST):c.-7-14T>C 145200338 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235993738 235993738 A G 279710 single nucleotide variant NM_000081.3(LYST):c.-131G>C 886046184 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235866876 235866876 C G 279710 single nucleotide variant NM_000081.3(LYST):c.-131G>C 886046184 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 236030176 236030176 C G 279879 single nucleotide variant NM_000081.3(LYST):c.*1831A>C 142608315 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661109 235661109 T G 279879 single nucleotide variant NM_000081.3(LYST):c.*1831A>C 142608315 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824409 235824409 T G 279880 single nucleotide variant NM_000081.3(LYST):c.*1792A>G 886046155 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661148 235661148 T C 279880 single nucleotide variant NM_000081.3(LYST):c.*1792A>G 886046155 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824448 235824448 T C 279882 single nucleotide variant NM_000081.3(LYST):c.*1428T>G 759592931 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661512 235661512 A C 279882 single nucleotide variant NM_000081.3(LYST):c.*1428T>G 759592931 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824812 235824812 A C 279884 single nucleotide variant NM_000081.3(LYST):c.*873G>C 188132960 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662067 235662067 C G 279884 single nucleotide variant NM_000081.3(LYST):c.*873G>C 188132960 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825367 235825367 C G 279885 single nucleotide variant NM_000081.3(LYST):c.*694T>C 886046162 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662246 235662246 A G 279885 single nucleotide variant NM_000081.3(LYST):c.*694T>C 886046162 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825546 235825546 A G 279886 single nucleotide variant NM_000081.3(LYST):c.*446T>C 74986567 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825794 235825794 A G 279886 single nucleotide variant NM_000081.3(LYST):c.*446T>C 74986567 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662494 235662494 A G 279888 single nucleotide variant NM_000081.3(LYST):c.*247G>T 189700601 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825993 235825993 C A 279888 single nucleotide variant NM_000081.3(LYST):c.*247G>T 189700601 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662693 235662693 C A 279890 single nucleotide variant NM_000081.3(LYST):c.*5G>A 200941072 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662935 235662935 C T 279890 single nucleotide variant NM_000081.3(LYST):c.*5G>A 200941072 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235826235 235826235 C T 279891 single nucleotide variant NM_000081.3(LYST):c.11196-15T>G 886046164 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235664070 235664070 A C 279891 single nucleotide variant NM_000081.3(LYST):c.11196-15T>G 886046164 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235827370 235827370 A C 279892 single nucleotide variant NM_000081.3(LYST):c.11122G>A (p.Val3708Met) 377306581 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235827838 235827838 C T 279892 single nucleotide variant NM_000081.3(LYST):c.11122G>A (p.Val3708Met) 377306581 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235664538 235664538 C T 279896 single nucleotide variant NM_000081.3(LYST):c.11076C>T (p.Asn3692=) 368394921 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235664584 235664584 G A 279896 single nucleotide variant NM_000081.3(LYST):c.11076C>T (p.Asn3692=) 368394921 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235827884 235827884 G A 279898 single nucleotide variant NM_000081.3(LYST):c.10838A>G (p.Tyr3613Cys) 151167023 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235677582 235677582 T C 279898 single nucleotide variant NM_000081.3(LYST):c.10838A>G (p.Tyr3613Cys) 151167023 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235840882 235840882 T C 279900 single nucleotide variant NM_000081.3(LYST):c.10800+4G>T 41308172 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235686945 235686945 C A 279900 single nucleotide variant NM_000081.3(LYST):c.10800+4G>T 41308172 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235850245 235850245 C A 279906 single nucleotide variant NM_000081.3(LYST):c.10733G>T (p.Cys3578Phe) 886046165 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235687016 235687016 C A 279906 single nucleotide variant NM_000081.3(LYST):c.10733G>T (p.Cys3578Phe) 886046165 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235850316 235850316 C A 279908 single nucleotide variant NM_000081.3(LYST):c.10526G>A (p.Arg3509Gln) 138936105 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235697121 235697121 C T 279908 single nucleotide variant NM_000081.3(LYST):c.10526G>A (p.Arg3509Gln) 138936105 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235860421 235860421 C T 279909 single nucleotide variant NM_000081.3(LYST):c.10477T>C (p.Phe3493Leu) 200511787 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235697170 235697170 A G 279909 single nucleotide variant NM_000081.3(LYST):c.10477T>C (p.Phe3493Leu) 200511787 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235860470 235860470 A G 279910 single nucleotide variant NM_000081.3(LYST):c.10341G>A (p.Glu3447=) 752160342 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235702780 235702780 C T 279910 single nucleotide variant NM_000081.3(LYST):c.10341G>A (p.Glu3447=) 752160342 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235866080 235866080 C T 279911 single nucleotide variant NM_000081.3(LYST):c.9742G>A (p.Val3248Ile) 543359025 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235715243 235715243 C T 279911 single nucleotide variant NM_000081.3(LYST):c.9742G>A (p.Val3248Ile) 543359025 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235878543 235878543 C T 279912 single nucleotide variant NM_000081.3(LYST):c.7836A>G (p.Ser2612=) 886046174 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235746472 235746472 T C 279912 single nucleotide variant NM_000081.3(LYST):c.7836A>G (p.Ser2612=) 886046174 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235909772 235909772 T C 279916 single nucleotide variant NM_000081.3(LYST):c.7430C>T (p.Thr2477Ile) 886046175 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235753074 235753074 G A 279916 single nucleotide variant NM_000081.3(LYST):c.7430C>T (p.Thr2477Ile) 886046175 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235916374 235916374 G A 279918 single nucleotide variant NM_000081.3(LYST):c.6454A>C (p.Ser2152Arg) 201317160 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235922699 235922699 T G 279918 single nucleotide variant NM_000081.3(LYST):c.6454A>C (p.Ser2152Arg) 201317160 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235759399 235759399 T G 279925 single nucleotide variant NM_000081.3(LYST):c.6291C>T (p.Ala2097=) 199857997 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235759562 235759562 G A 279925 single nucleotide variant NM_000081.3(LYST):c.6291C>T (p.Ala2097=) 199857997 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235922862 235922862 G A 279926 single nucleotide variant NM_000081.3(LYST):c.6079G>C (p.Val2027Leu) 374351038 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235766121 235766121 C G 279926 single nucleotide variant NM_000081.3(LYST):c.6079G>C (p.Val2027Leu) 374351038 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235929421 235929421 C G 279929 single nucleotide variant NM_000081.3(LYST):c.5635-4A>G 754201076 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235773995 235773995 T C 279929 single nucleotide variant NM_000081.3(LYST):c.5635-4A>G 754201076 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235937295 235937295 T C 279939 single nucleotide variant NM_000081.3(LYST):c.5634+11A>G 373971587 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235774902 235774902 T C 279939 single nucleotide variant NM_000081.3(LYST):c.5634+11A>G 373971587 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235938202 235938202 T C 279951 single nucleotide variant NM_000081.3(LYST):c.4705A>C (p.Asn1569His) 767687843 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235787357 235787357 T G 279951 single nucleotide variant NM_000081.3(LYST):c.4705A>C (p.Asn1569His) 767687843 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235950657 235950657 T G 279954 single nucleotide variant NM_000081.3(LYST):c.4566A>C (p.Ala1522=) 142344106 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235788823 235788823 T G 279954 single nucleotide variant NM_000081.3(LYST):c.4566A>C (p.Ala1522=) 142344106 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235952123 235952123 T G 279957 single nucleotide variant NM_000081.3(LYST):c.4337G>A (p.Arg1446Gln) 111722949 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235791905 235791905 C T 279957 single nucleotide variant NM_000081.3(LYST):c.4337G>A (p.Arg1446Gln) 111722949 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235955205 235955205 C T 279958 single nucleotide variant NM_000081.3(LYST):c.3898A>G (p.Ile1300Val) 199855658 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235800912 235800912 T C 279958 single nucleotide variant NM_000081.3(LYST):c.3898A>G (p.Ile1300Val) 199855658 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235964212 235964212 T C 279959 single nucleotide variant NM_000081.3(LYST):c.3083C>G (p.Ser1028Cys) 150636017 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806053 235806053 G C 279959 single nucleotide variant NM_000081.3(LYST):c.3083C>G (p.Ser1028Cys) 150636017 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969353 235969353 G C 279969 single nucleotide variant NM_000081.3(LYST):c.2945A>G (p.Tyr982Cys) 752179440 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806191 235806191 T C 279969 single nucleotide variant NM_000081.3(LYST):c.2945A>G (p.Tyr982Cys) 752179440 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969491 235969491 T C 279971 single nucleotide variant NM_000081.3(LYST):c.2687A>G (p.Asn896Ser) 139217636 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806449 235806449 T C 279971 single nucleotide variant NM_000081.3(LYST):c.2687A>G (p.Asn896Ser) 139217636 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969749 235969749 T C 279972 single nucleotide variant NM_000081.3(LYST):c.2517T>C (p.Ile839=) 78172154 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806619 235806619 A G 279972 single nucleotide variant NM_000081.3(LYST):c.2517T>C (p.Ile839=) 78172154 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969919 235969919 A G 279980 duplication NM_000081.3(LYST):c.2363+10dupT 760632806 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235808445 235808445 A AA 279980 duplication NM_000081.3(LYST):c.2363+10dupT 760632806 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235971745 235971745 A AA 279981 single nucleotide variant NM_000081.3(LYST):c.2258G>A (p.Ser753Asn) 746829669 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235808560 235808560 C T 279981 single nucleotide variant NM_000081.3(LYST):c.2258G>A (p.Ser753Asn) 746829669 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235971860 235971860 C T 279983 single nucleotide variant NM_000081.3(LYST):c.1725G>A (p.Ser575=) 144919024 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809093 235809093 C T 279983 single nucleotide variant NM_000081.3(LYST):c.1725G>A (p.Ser575=) 144919024 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972393 235972393 C T 279998 single nucleotide variant NM_000081.3(LYST):c.-134G>A 374328302 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 236030179 236030179 C T 279993 single nucleotide variant NM_000081.3(LYST):c.643C>T (p.Pro215Ser) 529971077 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235810175 235810175 G A 279993 single nucleotide variant NM_000081.3(LYST):c.643C>T (p.Pro215Ser) 529971077 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235973475 235973475 G A 279996 single nucleotide variant NM_000081.3(LYST):c.368A>G (p.His123Arg) 3768067 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235810450 235810450 T C 279996 single nucleotide variant NM_000081.3(LYST):c.368A>G (p.His123Arg) 3768067 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235973750 235973750 T C 279997 single nucleotide variant NM_000081.3(LYST):c.244C>T (p.Leu82=) 376821187 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235813010 235813010 G A 279997 single nucleotide variant NM_000081.3(LYST):c.244C>T (p.Leu82=) 376821187 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235976310 235976310 G A 279998 single nucleotide variant NM_000081.3(LYST):c.-134G>A 374328302 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235866879 235866879 C T 279999 single nucleotide variant NM_000081.3(LYST):c.-140G>C 544018977 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235866885 235866885 C G 279999 single nucleotide variant NM_000081.3(LYST):c.-140G>C 544018977 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 236030185 236030185 C G 281247 single nucleotide variant NM_000081.3(LYST):c.*1438C>T 886046156 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824802 235824802 G A 281246 single nucleotide variant NM_000081.3(LYST):c.*1861C>A 886046154 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661079 235661079 G T 281246 single nucleotide variant NM_000081.3(LYST):c.*1861C>A 886046154 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824379 235824379 G T 281247 single nucleotide variant NM_000081.3(LYST):c.*1438C>T 886046156 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661502 235661502 G A 281248 single nucleotide variant NM_000081.3(LYST):c.*1295T>C 77395892 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661645 235661645 A G 281248 single nucleotide variant NM_000081.3(LYST):c.*1295T>C 77395892 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235824945 235824945 A G 281252 single nucleotide variant NM_000081.3(LYST):c.*907G>A 886046159 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662033 235662033 C T 281252 single nucleotide variant NM_000081.3(LYST):c.*907G>A 886046159 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825333 235825333 C T 281254 single nucleotide variant NM_000081.3(LYST):c.*831A>G 886046160 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662109 235662109 T C 281254 single nucleotide variant NM_000081.3(LYST):c.*831A>G 886046160 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825409 235825409 T C 281265 single nucleotide variant NM_000081.3(LYST):c.*725G>A 77641278 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662215 235662215 C T 281265 single nucleotide variant NM_000081.3(LYST):c.*725G>A 77641278 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825515 235825515 C T 281270 single nucleotide variant NM_000081.3(LYST):c.10414T>C (p.Tyr3472His) 886046168 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235697233 235697233 A G 281270 single nucleotide variant NM_000081.3(LYST):c.10414T>C (p.Tyr3472His) 886046168 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235860533 235860533 A G 281272 single nucleotide variant NM_000081.3(LYST):c.10091A>G (p.Tyr3364Cys) 886046169 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235709143 235709143 T C 281272 single nucleotide variant NM_000081.3(LYST):c.10091A>G (p.Tyr3364Cys) 886046169 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235872443 235872443 T C 281273 single nucleotide variant NM_000081.3(LYST):c.8535+7C>T 886046173 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235734476 235734476 G A 281273 single nucleotide variant NM_000081.3(LYST):c.8535+7C>T 886046173 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235897776 235897776 G A 281276 single nucleotide variant NM_000081.3(LYST):c.8395A>G (p.Ile2799Val) 776018257 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235734623 235734623 T C 281276 single nucleotide variant NM_000081.3(LYST):c.8395A>G (p.Ile2799Val) 776018257 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235897923 235897923 T C 281281 single nucleotide variant NM_000081.3(LYST):c.8368A>C (p.Lys2790Gln) 138506576 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235734650 235734650 T G 281281 single nucleotide variant NM_000081.3(LYST):c.8368A>C (p.Lys2790Gln) 138506576 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235897950 235897950 T G 281282 single nucleotide variant NM_000081.3(LYST):c.8258C>T (p.Ser2753Leu) 200381196 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235741522 235741522 G A 281282 single nucleotide variant NM_000081.3(LYST):c.8258C>T (p.Ser2753Leu) 200381196 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235904822 235904822 G A 281283 single nucleotide variant NM_000081.3(LYST):c.6744A>G (p.Leu2248=) 886046176 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235759109 235759109 T C 281283 single nucleotide variant NM_000081.3(LYST):c.6744A>G (p.Leu2248=) 886046176 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235922409 235922409 T C 281290 single nucleotide variant NM_000081.3(LYST):c.6673C>T (p.Arg2225Cys) 375665715 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235759180 235759180 G A 281290 single nucleotide variant NM_000081.3(LYST):c.6673C>T (p.Arg2225Cys) 375665715 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235922480 235922480 G A 281291 single nucleotide variant NM_000081.3(LYST):c.3931A>G (p.Met1311Val) 376718077 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235800879 235800879 T C 281291 single nucleotide variant NM_000081.3(LYST):c.3931A>G (p.Met1311Val) 376718077 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235964179 235964179 T C 281293 single nucleotide variant NM_000081.3(LYST):c.3697G>A (p.Glu1233Lys) 566351447 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235802923 235802923 C T 281293 single nucleotide variant NM_000081.3(LYST):c.3697G>A (p.Glu1233Lys) 566351447 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235966223 235966223 C T 281301 single nucleotide variant NM_000081.3(LYST):c.*1211G>A 138320518 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235661729 235661729 C T 281301 single nucleotide variant NM_000081.3(LYST):c.*1211G>A 138320518 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825029 235825029 C T 281303 single nucleotide variant NM_000081.3(LYST):c.3278G>A (p.Ser1093Asn) 761912894 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235805858 235805858 C T 281303 single nucleotide variant NM_000081.3(LYST):c.3278G>A (p.Ser1093Asn) 761912894 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969158 235969158 C T 281304 single nucleotide variant NM_000081.3(LYST):c.2769A>C (p.Ser923=) 112739986 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806367 235806367 T G 281304 single nucleotide variant NM_000081.3(LYST):c.2769A>C (p.Ser923=) 112739986 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969667 235969667 T G 281308 single nucleotide variant NM_000081.3(LYST):c.2724C>T (p.Cys908=) 201440611 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806412 235806412 G A 281308 single nucleotide variant NM_000081.3(LYST):c.2724C>T (p.Cys908=) 201440611 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969712 235969712 G A 281309 deletion NM_000081.3(LYST):c.2012_2014delCTT (p.Ser671del) 552601776 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235808804 235808806 AAG - 281309 deletion NM_000081.3(LYST):c.2012_2014delCTT (p.Ser671del) 552601776 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972104 235972106 AAG - 281310 single nucleotide variant NM_000081.3(LYST):c.*891G>C 41269373 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662049 235662049 C G 281310 single nucleotide variant NM_000081.3(LYST):c.*891G>C 41269373 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825349 235825349 C G 281313 single nucleotide variant NM_000081.3(LYST):c.280A>G (p.Thr94Ala) 886046182 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235812974 235812974 T C 281313 single nucleotide variant NM_000081.3(LYST):c.280A>G (p.Thr94Ala) 886046182 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235976274 235976274 T C 281314 single nucleotide variant NM_000081.3(LYST):c.*824A>G 886046161 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662116 235662116 T C 281314 single nucleotide variant NM_000081.3(LYST):c.*824A>G 886046161 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825416 235825416 T C 281315 single nucleotide variant NM_000081.3(LYST):c.*685G>T 77611757 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662255 235662255 C A 281315 single nucleotide variant NM_000081.3(LYST):c.*685G>T 77611757 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825555 235825555 C A 281316 single nucleotide variant NM_000081.3(LYST):c.-139G>A 866981279 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235866884 235866884 C T 281316 single nucleotide variant NM_000081.3(LYST):c.-139G>A 866981279 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 236030184 236030184 C T 281318 single nucleotide variant NM_000081.3(LYST):c.*519C>T 192603579 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662421 235662421 G A 281318 single nucleotide variant NM_000081.3(LYST):c.*519C>T 192603579 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235825721 235825721 G A 281343 single nucleotide variant NM_000081.3(LYST):c.*191T>C 886046163 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662749 235662749 A G 281343 single nucleotide variant NM_000081.3(LYST):c.*191T>C 886046163 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235826049 235826049 A G 281344 single nucleotide variant NM_000081.3(LYST):c.*94A>G 537857840 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235826146 235826146 T C 281344 single nucleotide variant NM_000081.3(LYST):c.*94A>G 537857840 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235662846 235662846 T C 281357 duplication NM_000081.3(LYST):c.11268-5dupT 767372373 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235663083 235663083 A AA 281357 duplication NM_000081.3(LYST):c.11268-5dupT 767372373 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235826383 235826383 A AA 281363 single nucleotide variant NM_000081.3(LYST):c.11167G>A (p.Ala3723Thr) 149292888 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235664493 235664493 C T 281363 single nucleotide variant NM_000081.3(LYST):c.11167G>A (p.Ala3723Thr) 149292888 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235827793 235827793 C T 281369 single nucleotide variant NM_000081.3(LYST):c.10707T>C (p.Thr3569=) 886046166 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235687042 235687042 A G 281369 single nucleotide variant NM_000081.3(LYST):c.10707T>C (p.Thr3569=) 886046166 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235850342 235850342 A G 281374 single nucleotide variant NM_000081.3(LYST):c.9332A>G (p.Tyr3111Cys) 886046171 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235720889 235720889 T C 281374 single nucleotide variant NM_000081.3(LYST):c.9332A>G (p.Tyr3111Cys) 886046171 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235884189 235884189 T C 281376 single nucleotide variant NM_000081.3(LYST):c.9162+11G>A 74958355 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235728065 235728065 C T 281376 single nucleotide variant NM_000081.3(LYST):c.9162+11G>A 74958355 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235891365 235891365 C T 281392 single nucleotide variant NM_000081.3(LYST):c.8960C>G (p.Pro2987Arg) 147899661 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235730931 235730931 G C 281392 single nucleotide variant NM_000081.3(LYST):c.8960C>G (p.Pro2987Arg) 147899661 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235894231 235894231 G C 281394 single nucleotide variant NM_000081.3(LYST):c.8818C>A (p.Pro2940Thr) 375839384 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235731161 235731161 G T 281394 single nucleotide variant NM_000081.3(LYST):c.8818C>A (p.Pro2940Thr) 375839384 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235894461 235894461 G T 281395 single nucleotide variant NM_000081.3(LYST):c.8801+15G>C 748026551 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235733488 235733488 C G 281395 single nucleotide variant NM_000081.3(LYST):c.8801+15G>C 748026551 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235896788 235896788 C G 281408 single nucleotide variant NM_000081.3(LYST):c.8742A>G (p.Lys2914=) 886046172 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235733562 235733562 T C 281408 single nucleotide variant NM_000081.3(LYST):c.8742A>G (p.Lys2914=) 886046172 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235896862 235896862 T C 281409 single nucleotide variant NM_000081.3(LYST):c.8537A>C (p.Glu2846Ala) 765338918 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235733905 235733905 T G 281409 single nucleotide variant NM_000081.3(LYST):c.8537A>C (p.Glu2846Ala) 765338918 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235897205 235897205 T G 281417 single nucleotide variant NM_000081.3(LYST):c.8214G>C (p.Glu2738Asp) 140944484 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235741566 235741566 C G 281417 single nucleotide variant NM_000081.3(LYST):c.8214G>C (p.Glu2738Asp) 140944484 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235904866 235904866 C G 281425 single nucleotide variant NM_000081.3(LYST):c.7506A>C (p.Gln2502His) 140434436 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235752126 235752126 T G 281425 single nucleotide variant NM_000081.3(LYST):c.7506A>C (p.Gln2502His) 140434436 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235915426 235915426 T G 281426 single nucleotide variant NM_000081.3(LYST):c.7385C>A (p.Ala2462Glu) 201821563 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235753119 235753119 G T 281426 single nucleotide variant NM_000081.3(LYST):c.7385C>A (p.Ala2462Glu) 201821563 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235916419 235916419 G T 281429 single nucleotide variant NM_000081.3(LYST):c.6772G>C (p.Ala2258Pro) 373212564 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235759081 235759081 C G 281429 single nucleotide variant NM_000081.3(LYST):c.6772G>C (p.Ala2258Pro) 373212564 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235922381 235922381 C G 281430 single nucleotide variant NM_000081.3(LYST):c.6292G>A (p.Ala2098Thr) 146091043 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235759561 235759561 C T 281430 single nucleotide variant NM_000081.3(LYST):c.6292G>A (p.Ala2098Thr) 146091043 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235922861 235922861 C T 281434 single nucleotide variant NM_000081.3(LYST):c.6188G>A (p.Arg2063Lys) 763604337 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235762785 235762785 C T 281434 single nucleotide variant NM_000081.3(LYST):c.6188G>A (p.Arg2063Lys) 763604337 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235926085 235926085 C T 281442 single nucleotide variant NM_000081.3(LYST):c.3834G>A (p.Leu1278=) 148542548 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235800976 235800976 C T 281442 single nucleotide variant NM_000081.3(LYST):c.3834G>A (p.Leu1278=) 148542548 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235964276 235964276 C T 281444 single nucleotide variant NM_000081.3(LYST):c.3712+12T>C 374949148 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235802896 235802896 A G 281444 single nucleotide variant NM_000081.3(LYST):c.3712+12T>C 374949148 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235966196 235966196 A G 281449 single nucleotide variant NM_000081.3(LYST):c.3616G>C (p.Asp1206His) 148129352 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235803004 235803004 C G 281449 single nucleotide variant NM_000081.3(LYST):c.3616G>C (p.Asp1206His) 148129352 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235966304 235966304 C G 281451 single nucleotide variant NM_000081.3(LYST):c.3167A>C (p.Lys1056Thr) 886046178 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235805969 235805969 T G 281451 single nucleotide variant NM_000081.3(LYST):c.3167A>C (p.Lys1056Thr) 886046178 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969269 235969269 T G 281452 single nucleotide variant NM_000081.3(LYST):c.3160A>G (p.Ser1054Gly) 886046179 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235805976 235805976 T C 281452 single nucleotide variant NM_000081.3(LYST):c.3160A>G (p.Ser1054Gly) 886046179 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969276 235969276 T C 281455 single nucleotide variant NM_000081.3(LYST):c.2908A>C (p.Ile970Leu) 539146732 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806228 235806228 T G 281455 single nucleotide variant NM_000081.3(LYST):c.2908A>C (p.Ile970Leu) 539146732 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969528 235969528 T G 281471 single nucleotide variant NM_000081.3(LYST):c.2725G>A (p.Val909Ile) 146335682 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235806411 235806411 C T 281471 single nucleotide variant NM_000081.3(LYST):c.2725G>A (p.Val909Ile) 146335682 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235969711 235969711 C T 281476 single nucleotide variant NM_000081.3(LYST):c.1996A>G (p.Ser666Gly) 140284566 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235808822 235808822 T C 281476 single nucleotide variant NM_000081.3(LYST):c.1996A>G (p.Ser666Gly) 140284566 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972122 235972122 T C 281486 single nucleotide variant NM_000081.3(LYST):c.1655T>C (p.Val552Ala) 199617821 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809163 235809163 A G 281486 single nucleotide variant NM_000081.3(LYST):c.1655T>C (p.Val552Ala) 199617821 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972463 235972463 A G 281493 single nucleotide variant NM_000081.3(LYST):c.1494A>G (p.Arg498=) 201412615 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809324 235809324 T C 281493 single nucleotide variant NM_000081.3(LYST):c.1494A>G (p.Arg498=) 201412615 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972624 235972624 T C 281498 single nucleotide variant NM_000081.3(LYST):c.1478A>G (p.His493Arg) 886046181 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235972640 235972640 T C 281498 single nucleotide variant NM_000081.3(LYST):c.1478A>G (p.His493Arg) 886046181 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809340 235809340 T C 281499 single nucleotide variant NM_000081.3(LYST):c.916T>G (p.Leu306Val) 762709482 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235809902 235809902 A C 281499 single nucleotide variant NM_000081.3(LYST):c.916T>G (p.Leu306Val) 762709482 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235973202 235973202 A C 281503 duplication NM_000081.3(LYST):c.-97-5dupT 796496578 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235833672 235833672 A AA 281503 duplication NM_000081.3(LYST):c.-97-5dupT 796496578 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235996972 235996972 A AA 281514 single nucleotide variant NM_000081.3(LYST):c.-97-9T>G 886046183 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235833676 235833676 A C 281514 single nucleotide variant NM_000081.3(LYST):c.-97-9T>G 886046183 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235996976 235996976 A C 281515 single nucleotide variant NM_000081.3(LYST):c.-134G>C 374328302 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235866879 235866879 C G 281515 single nucleotide variant NM_000081.3(LYST):c.-134G>C 374328302 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 236030179 236030179 C G 281516 single nucleotide variant NM_000081.3(LYST):c.-142C>T 3738522 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 235866887 235866887 G A 281516 single nucleotide variant NM_000081.3(LYST):c.-142C>T 3738522 MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:C0007965 1 236030187 236030187 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 1 235832555 rs11810173 C T rs11810173 9.37E-05 Body Composition HPOID:0001513|HPOID:0001627 DOID:9970|DOID:114 C intron GWASdb_trait 1 235838759 rs13373917 C T rs13373917 2.16E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 1 235840294 rs7517694 G A rs7517694 2.69E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 1 235890146 rs16848869 T C rs16848869 4.70E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 1 235912025 rs1078859 C A rs1078859 0.000114217 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 G intron GWASdb_trait 1 235959705 rs12089846 A C rs12089846 7.83E-04 Heart Failure HPOID:0001635 DOID:6000 A intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs11810173 1 235832555 235832555 intronic 0.848372 0.07141367354321951 GWAS of prostate cancer rs1078859 1 235912025 235912025 intronic 0.15911 0.798302524260772 GWAS of prostate cancer rs12089846 1 235959705 235959705 intronic 0.130589 0.884093403769196 GWAS of prostate cancer rs6670720 1 235939846 235939846 intronic 0.129791 0.886755421448217 GWAS of prostate cancer rs7545788 1 235849939 235849939 intronic 0.093511 1.0291372986642902 GWAS of prostate cancer rs3754230 1 235826583 235826583 intronic 0.0901 1.04527520902094 GWAS of prostate cancer rs6692303 1 235997314 235997314 intronic 0.070239 1.1534216801539698 GWAS of prostate cancer rs6696123 1 235945294 235945294 exonic 0.023895 1.62169296514319

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000143669.13 LYST 606897