Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39472 single nucleotide variant KLHL3, TRP470TER -1 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525 na -1 -1 na na 39473 single nucleotide variant NM_017415.2(KLHL3):c.965T>G (p.Phe322Cys) 199469639 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136975605 136975605 A C 39473 single nucleotide variant NM_017415.2(KLHL3):c.965T>G (p.Phe322Cys) 199469639 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137639916 137639916 A C 39474 single nucleotide variant NM_017415.2(KLHL3):c.1229C>T (p.Ser410Leu) 199469641 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136973075 136973075 G A 39474 single nucleotide variant NM_017415.2(KLHL3):c.1229C>T (p.Ser410Leu) 199469641 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137637386 137637386 G A 39475 single nucleotide variant NM_017415.2(KLHL3):c.1583G>A (p.Arg528His) 199469636 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136963994 136963994 C T 39475 single nucleotide variant NM_017415.2(KLHL3):c.1583G>A (p.Arg528His) 199469636 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137628305 137628305 C T 39476 single nucleotide variant NM_017415.2(KLHL3):c.718C>T (p.Arg240Ter) 199469638 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136997639 136997639 G A 39476 single nucleotide variant NM_017415.2(KLHL3):c.718C>T (p.Arg240Ter) 199469638 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137661950 137661950 G A 39477 single nucleotide variant NM_017415.2(KLHL3):c.1007G>T (p.Arg336Ile) 199469640 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136975563 136975563 C A 39477 single nucleotide variant NM_017415.2(KLHL3):c.1007G>T (p.Arg336Ile) 199469640 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137639874 137639874 C A 39478 single nucleotide variant NM_017415.2(KLHL3):c.1670A>G (p.Tyr557Cys) 199469645 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136961507 136961507 T C 39478 single nucleotide variant NM_017415.2(KLHL3):c.1670A>G (p.Tyr557Cys) 199469645 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137625818 137625818 T C 39479 single nucleotide variant NM_017415.2(KLHL3):c.1582C>T (p.Arg528Cys) 199469635 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136963995 136963995 G A 39479 single nucleotide variant NM_017415.2(KLHL3):c.1582C>T (p.Arg528Cys) 199469635 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137628306 137628306 G A 39480 single nucleotide variant NM_017415.2(KLHL3):c.1298G>A (p.Ser433Asn) 199469632 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136973006 136973006 C T 39480 single nucleotide variant NM_017415.2(KLHL3):c.1298G>A (p.Ser433Asn) 199469632 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137637317 137637317 C T 40222 single nucleotide variant NM_017415.2(KLHL3):c.1193C>T (p.Ala398Val) 387907155 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525 5 136974668 136974668 G A 40222 single nucleotide variant NM_017415.2(KLHL3):c.1193C>T (p.Ala398Val) 387907155 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525 5 137638979 137638979 G A 40223 single nucleotide variant KLHL3, ASN529LYS -1 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525 na -1 -1 na na 40224 single nucleotide variant NM_017415.2(KLHL3):c.1277C>T (p.Pro426Leu) 387907156 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525 5 136973027 136973027 G A 40224 single nucleotide variant NM_017415.2(KLHL3):c.1277C>T (p.Pro426Leu) 387907156 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525 5 137637338 137637338 G A 106404 single nucleotide variant NM_017415.2(KLHL3):c.1410G>A (p.Trp470Ter) 199469644 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136969766 136969766 C T 106404 single nucleotide variant NM_017415.2(KLHL3):c.1410G>A (p.Trp470Ter) 199469644 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137634077 137634077 C T 106405 deletion NM_017415.2(KLHL3):c.721delC (p.Leu241Phefs) 199469647 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136997636 136997636 G - 106405 deletion NM_017415.2(KLHL3):c.721delC (p.Leu241Phefs) 199469647 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137661947 137661947 G - 106406 single nucleotide variant NM_017415.2(KLHL3):c.753+1G>A 199469648 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136997603 136997603 C T 106406 single nucleotide variant NM_017415.2(KLHL3):c.753+1G>A 199469648 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137661914 137661914 C T 106407 single nucleotide variant NM_017415.2(KLHL3):c.1019C>T (p.Ala340Val) 199469628 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136975551 136975551 G A 106407 single nucleotide variant NM_017415.2(KLHL3):c.1019C>T (p.Ala340Val) 199469628 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137639862 137639862 G A 106408 single nucleotide variant NM_017415.2(KLHL3):c.1480G>A (p.Ala494Thr) 199469633 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136964097 136964097 C T 106408 single nucleotide variant NM_017415.2(KLHL3):c.1480G>A (p.Ala494Thr) 199469633 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137628408 137628408 C T 106409 single nucleotide variant NM_017415.2(KLHL3):c.230C>A (p.Ala77Glu) 199469623 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137045450 137045450 G T 106409 single nucleotide variant NM_017415.2(KLHL3):c.230C>A (p.Ala77Glu) 199469623 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137709761 137709761 G T 106410 single nucleotide variant NM_017415.2(KLHL3):c.491G>T (p.Cys164Phe) 199469626 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137028009 137028009 C A 106410 single nucleotide variant NM_017415.2(KLHL3):c.491G>T (p.Cys164Phe) 199469626 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137692320 137692320 C A 106411 single nucleotide variant NM_017415.2(KLHL3):c.254A>C (p.Glu85Ala) 199469625 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137034085 137034085 T G 106411 single nucleotide variant NM_017415.2(KLHL3):c.254A>C (p.Glu85Ala) 199469625 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137698396 137698396 T G 106413 single nucleotide variant NM_017415.2(KLHL3):c.1160T>C (p.Leu387Pro) 199469630 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136974701 136974701 A G 106413 single nucleotide variant NM_017415.2(KLHL3):c.1160T>C (p.Leu387Pro) 199469630 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137639012 137639012 A G 106414 single nucleotide variant NM_017415.2(KLHL3):c.1280T>C (p.Met427Thr) 199469642 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136973024 136973024 A G 106414 single nucleotide variant NM_017415.2(KLHL3):c.1280T>C (p.Met427Thr) 199469642 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137637335 137637335 A G 106415 single nucleotide variant NM_017415.2(KLHL3):c.232A>G (p.Met78Val) 199469624 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137045448 137045448 T C 106415 single nucleotide variant NM_017415.2(KLHL3):c.232A>G (p.Met78Val) 199469624 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137709759 137709759 T C 106416 single nucleotide variant NM_017415.2(KLHL3):c.1501C>A (p.Pro501Thr) 199469634 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136964076 136964076 G T 106416 single nucleotide variant NM_017415.2(KLHL3):c.1501C>A (p.Pro501Thr) 199469634 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137628387 137628387 G T 106417 single nucleotide variant NM_017415.2(KLHL3):c.430C>T (p.Gln144Ter) 199469637 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137028070 137028070 G A 106417 single nucleotide variant NM_017415.2(KLHL3):c.430C>T (p.Gln144Ter) 199469637 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137692381 137692381 G A 106418 single nucleotide variant NM_017415.2(KLHL3):c.926A>G (p.Gln309Arg) 199469627 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136975644 136975644 T C 106418 single nucleotide variant NM_017415.2(KLHL3):c.926A>G (p.Gln309Arg) 199469627 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137639955 137639955 T C 106421 single nucleotide variant NM_017415.2(KLHL3):c.1151G>A (p.Arg384Gln) 199469629 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136974710 136974710 C T 106421 single nucleotide variant NM_017415.2(KLHL3):c.1151G>A (p.Arg384Gln) 199469629 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137639021 137639021 C T 106422 single nucleotide variant NM_017415.2(KLHL3):c.1292G>A (p.Arg431Gln) 199469643 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136973012 136973012 C T 106422 single nucleotide variant NM_017415.2(KLHL3):c.1292G>A (p.Arg431Gln) 199469643 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137637323 137637323 C T 106425 single nucleotide variant NM_017415.2(KLHL3):c.1723C>T (p.Arg575Trp) 199469646 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136961454 136961454 G A 106425 single nucleotide variant NM_017415.2(KLHL3):c.1723C>T (p.Arg575Trp) 199469646 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137625765 137625765 G A 106427 single nucleotide variant NM_017415.2(KLHL3):c.1295G>A (p.Ser432Asn) 199469631 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 136973009 136973009 C T 106427 single nucleotide variant NM_017415.2(KLHL3):c.1295G>A (p.Ser432Asn) 199469631 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 5 137637320 137637320 C T 214534 single nucleotide variant NM_017415.2(KLHL3):c.1519G>A (p.Val507Ile) 863225302 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525 5 137628369 137628369 C T 214534 single nucleotide variant NM_017415.2(KLHL3):c.1519G>A (p.Val507Ile) 863225302 MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525 5 136964058 136964058 C T 251701 single nucleotide variant NM_017415.2(KLHL3):c.1611G>T (p.Gly537=) 17171525 MedGen:CN239441;MedGen:CN169374 5 136961566 136961566 C A 251701 single nucleotide variant NM_017415.2(KLHL3):c.1611G>T (p.Gly537=) 17171525 MedGen:CN239441;MedGen:CN169374 5 137625877 137625877 C A 251704 single nucleotide variant NM_017415.2(KLHL3):c.1383G>A (p.Glu461=) 2301708 MedGen:CN239441;MedGen:CN169374 5 137634104 137634104 C T 251704 single nucleotide variant NM_017415.2(KLHL3):c.1383G>A (p.Glu461=) 2301708 MedGen:CN239441;MedGen:CN169374 5 136969793 136969793 C T 251708 single nucleotide variant NM_017415.2(KLHL3):c.471A>G (p.Ala157=) 2905608 MedGen:CN239441;MedGen:CN169374 5 137692340 137692340 T C 251708 single nucleotide variant NM_017415.2(KLHL3):c.471A>G (p.Ala157=) 2905608 MedGen:CN239441;MedGen:CN169374 5 137028029 137028029 T C 295398 single nucleotide variant NM_017415.2(KLHL3):c.*4356G>T 757402685 MedGen:CN239441 5 136953431 136953431 C A 295398 single nucleotide variant NM_017415.2(KLHL3):c.*4356G>T 757402685 MedGen:CN239441 5 137617742 137617742 C A 295426 single nucleotide variant NM_017415.2(KLHL3):c.*2360G>A 533076689 MedGen:CN239441 5 136955427 136955427 C T 295409 single nucleotide variant NM_017415.2(KLHL3):c.*4006C>T 150624383 MedGen:CN239441 5 137618092 137618092 G A 295409 single nucleotide variant NM_017415.2(KLHL3):c.*4006C>T 150624383 MedGen:CN239441 5 136953781 136953781 G A 295426 single nucleotide variant NM_017415.2(KLHL3):c.*2360G>A 533076689 MedGen:CN239441 5 137619738 137619738 C T 295423 insertion NM_017415.2(KLHL3):c.*3339_*3340insT 886059939 MedGen:CN239441 5 137618758 137618759 - A 295423 insertion NM_017415.2(KLHL3):c.*3339_*3340insT 886059939 MedGen:CN239441 5 136954447 136954448 - A 295425 single nucleotide variant NM_017415.2(KLHL3):c.*3205A>T 35251512 MedGen:CN239441 5 137618893 137618893 T A 295425 single nucleotide variant NM_017415.2(KLHL3):c.*3205A>T 35251512 MedGen:CN239441 5 136954582 136954582 T A 295429 single nucleotide variant NM_017415.2(KLHL3):c.*2267T>A 140696146 MedGen:CN239441 5 136955520 136955520 A T 295429 single nucleotide variant NM_017415.2(KLHL3):c.*2267T>A 140696146 MedGen:CN239441 5 137619831 137619831 A T 295430 single nucleotide variant NM_017415.2(KLHL3):c.*1657G>A 375193765 MedGen:CN239441 5 136956130 136956130 C T 295430 single nucleotide variant NM_017415.2(KLHL3):c.*1657G>A 375193765 MedGen:CN239441 5 137620441 137620441 C T 295435 single nucleotide variant NM_017415.2(KLHL3):c.*1583C>T 554048189 MedGen:CN239441 5 136956204 136956204 G A 295435 single nucleotide variant NM_017415.2(KLHL3):c.*1583C>T 554048189 MedGen:CN239441 5 137620515 137620515 G A 295438 single nucleotide variant NM_017415.2(KLHL3):c.*1106G>T 141393967 MedGen:CN239441 5 136956681 136956681 C A 295438 single nucleotide variant NM_017415.2(KLHL3):c.*1106G>T 141393967 MedGen:CN239441 5 137620992 137620992 C A 295443 single nucleotide variant NM_017415.2(KLHL3):c.*748T>C 886059952 MedGen:CN239441 5 137621350 137621350 A G 295443 single nucleotide variant NM_017415.2(KLHL3):c.*748T>C 886059952 MedGen:CN239441 5 136957039 136957039 A G 295445 single nucleotide variant NM_017415.2(KLHL3):c.*539G>A 886059954 MedGen:CN239441 5 137621559 137621559 C T 295445 single nucleotide variant NM_017415.2(KLHL3):c.*539G>A 886059954 MedGen:CN239441 5 136957248 136957248 C T 295446 single nucleotide variant NM_017415.2(KLHL3):c.*501T>C 886059955 MedGen:CN239441 5 137621597 137621597 A G 295446 single nucleotide variant NM_017415.2(KLHL3):c.*501T>C 886059955 MedGen:CN239441 5 136957286 136957286 A G 295447 deletion NM_017415.2(KLHL3):c.*319_*320delGT 3839339 MedGen:CN239441 5 137621778 137621779 AC - 295447 deletion NM_017415.2(KLHL3):c.*319_*320delGT 3839339 MedGen:CN239441 5 136957467 136957468 AC - 295453 single nucleotide variant NM_017415.2(KLHL3):c.*299G>A 539132895 MedGen:CN239441 5 137621799 137621799 C T 295453 single nucleotide variant NM_017415.2(KLHL3):c.*299G>A 539132895 MedGen:CN239441 5 136957488 136957488 C T 295456 single nucleotide variant NM_017415.2(KLHL3):c.1021+5G>A 183499982 MedGen:CN239441 5 137639855 137639855 C T 295456 single nucleotide variant NM_017415.2(KLHL3):c.1021+5G>A 183499982 MedGen:CN239441 5 136975544 136975544 C T 295461 single nucleotide variant NM_017415.2(KLHL3):c.14+11A>T 886059959 MedGen:CN239441 5 137071311 137071311 T A 295461 single nucleotide variant NM_017415.2(KLHL3):c.14+11A>T 886059959 MedGen:CN239441 5 137735622 137735622 T A 295469 single nucleotide variant NM_017415.2(KLHL3):c.-337A>G 886059961 MedGen:CN239441 5 137071672 137071672 T C 295469 single nucleotide variant NM_017415.2(KLHL3):c.-337A>G 886059961 MedGen:CN239441 5 137735983 137735983 T C 295470 single nucleotide variant NM_017415.2(KLHL3):c.-402C>T 774532097 MedGen:CN239441 5 137071737 137071737 G A 295470 single nucleotide variant NM_017415.2(KLHL3):c.-402C>T 774532097 MedGen:CN239441 5 137736048 137736048 G A 297203 single nucleotide variant NM_017415.2(KLHL3):c.*4066C>T 544519958 MedGen:CN239441 5 137618032 137618032 G A 297203 single nucleotide variant NM_017415.2(KLHL3):c.*4066C>T 544519958 MedGen:CN239441 5 136953721 136953721 G A 297204 single nucleotide variant NM_017415.2(KLHL3):c.*3271A>G 886059940 MedGen:CN239441 5 137618827 137618827 T C 297204 single nucleotide variant NM_017415.2(KLHL3):c.*3271A>G 886059940 MedGen:CN239441 5 136954516 136954516 T C 297206 duplication NM_017415.2(KLHL3):c.*3209dupT 886059941 MedGen:CN239441 5 137618889 137618889 A AA 297206 duplication NM_017415.2(KLHL3):c.*3209dupT 886059941 MedGen:CN239441 5 136954578 136954578 A AA 297207 deletion NM_017415.2(KLHL3):c.*3207_*3208delAA 764248053 MedGen:CN239441 5 137618890 137618891 TT - 297207 deletion NM_017415.2(KLHL3):c.*3207_*3208delAA 764248053 MedGen:CN239441 5 136954579 136954580 TT - 297208 deletion NM_017415.2(KLHL3):c.*3208delA 886059942 MedGen:CN239441 5 137618890 137618890 T - 297208 deletion NM_017415.2(KLHL3):c.*3208delA 886059942 MedGen:CN239441 5 136954579 136954579 T - 297209 insertion NM_017415.2(KLHL3):c.*3205_*3206insTT 147517371 MedGen:CN239441 5 137618892 137618893 - AA 297209 insertion NM_017415.2(KLHL3):c.*3205_*3206insTT 147517371 MedGen:CN239441 5 136954581 136954582 - AA 297211 single nucleotide variant NM_017415.2(KLHL3):c.*3204A>T 4835684 MedGen:CN239441 5 137618894 137618894 T A 297211 single nucleotide variant NM_017415.2(KLHL3):c.*3204A>T 4835684 MedGen:CN239441 5 136954583 136954583 T A 297212 single nucleotide variant NM_017415.2(KLHL3):c.*3068A>G 3813314 MedGen:CN239441 5 137619030 137619030 T C 297212 single nucleotide variant NM_017415.2(KLHL3):c.*3068A>G 3813314 MedGen:CN239441 5 136954719 136954719 T C 297218 single nucleotide variant NM_017415.2(KLHL3):c.*2926T>C 3813315 MedGen:CN239441 5 137619172 137619172 A G 297218 single nucleotide variant NM_017415.2(KLHL3):c.*2926T>C 3813315 MedGen:CN239441 5 136954861 136954861 A G 297231 single nucleotide variant NM_017415.2(KLHL3):c.*2805A>G 141261117 MedGen:CN239441 5 137619293 137619293 T C 297231 single nucleotide variant NM_017415.2(KLHL3):c.*2805A>G 141261117 MedGen:CN239441 5 136954982 136954982 T C 297234 single nucleotide variant NM_017415.2(KLHL3):c.*2448C>T 886059945 MedGen:CN239441 5 136955339 136955339 G A 297234 single nucleotide variant NM_017415.2(KLHL3):c.*2448C>T 886059945 MedGen:CN239441 5 137619650 137619650 G A 297235 single nucleotide variant NM_017415.2(KLHL3):c.*2404C>A 3813316 MedGen:CN239441 5 136955383 136955383 G T 297235 single nucleotide variant NM_017415.2(KLHL3):c.*2404C>A 3813316 MedGen:CN239441 5 137619694 137619694 G T 297236 single nucleotide variant NM_017415.2(KLHL3):c.*2156A>G 886059947 MedGen:CN239441 5 136955631 136955631 T C 297236 single nucleotide variant NM_017415.2(KLHL3):c.*2156A>G 886059947 MedGen:CN239441 5 137619942 137619942 T C 297242 single nucleotide variant NM_017415.2(KLHL3):c.*1896T>G 75344015 MedGen:CN239441 5 136955891 136955891 A C 297242 single nucleotide variant NM_017415.2(KLHL3):c.*1896T>G 75344015 MedGen:CN239441 5 137620202 137620202 A C 297243 single nucleotide variant NM_017415.2(KLHL3):c.*1034C>T 886059951 MedGen:CN239441 5 137621064 137621064 G A 297243 single nucleotide variant NM_017415.2(KLHL3):c.*1034C>T 886059951 MedGen:CN239441 5 136956753 136956753 G A 297244 single nucleotide variant NM_017415.2(KLHL3):c.*790G>A 572765305 MedGen:CN239441 5 137621308 137621308 C T 297244 single nucleotide variant NM_017415.2(KLHL3):c.*790G>A 572765305 MedGen:CN239441 5 136956997 136956997 C T 297246 single nucleotide variant NM_017415.2(KLHL3):c.*481G>A 886059956 MedGen:CN239441 5 137621617 137621617 C T 297246 single nucleotide variant NM_017415.2(KLHL3):c.*481G>A 886059956 MedGen:CN239441 5 136957306 136957306 C T 297249 single nucleotide variant NM_017415.2(KLHL3):c.*224G>T 536807069 MedGen:CN239441 5 137621874 137621874 C A 297249 single nucleotide variant NM_017415.2(KLHL3):c.*224G>T 536807069 MedGen:CN239441 5 136957563 136957563 C A 297250 single nucleotide variant NM_017415.2(KLHL3):c.1118A>G (p.Gln373Arg) 766825906 MedGen:CN239441 5 136974743 136974743 T C 297250 single nucleotide variant NM_017415.2(KLHL3):c.1118A>G (p.Gln373Arg) 766825906 MedGen:CN239441 5 137639054 137639054 T C 297257 single nucleotide variant NM_017415.2(KLHL3):c.-170T>C 886059960 MedGen:CN239441 5 137071505 137071505 A G 297257 single nucleotide variant NM_017415.2(KLHL3):c.-170T>C 886059960 MedGen:CN239441 5 137735816 137735816 A G 297259 single nucleotide variant NM_017415.2(KLHL3):c.-256T>A 182320171 MedGen:CN239441 5 137071591 137071591 A T 297259 single nucleotide variant NM_017415.2(KLHL3):c.-256T>A 182320171 MedGen:CN239441 5 137735902 137735902 A T 297260 single nucleotide variant NM_017415.2(KLHL3):c.-275G>C 189053795 MedGen:CN239441 5 137071610 137071610 C G 297260 single nucleotide variant NM_017415.2(KLHL3):c.-275G>C 189053795 MedGen:CN239441 5 137735921 137735921 C G 301006 single nucleotide variant NM_017415.2(KLHL3):c.*3128C>G 147801381 MedGen:CN239441 5 137618970 137618970 G C 301006 single nucleotide variant NM_017415.2(KLHL3):c.*3128C>G 147801381 MedGen:CN239441 5 136954659 136954659 G C 301017 single nucleotide variant NM_017415.2(KLHL3):c.*2687C>T 186283051 MedGen:CN239441 5 136955100 136955100 G A 301017 single nucleotide variant NM_017415.2(KLHL3):c.*2687C>T 186283051 MedGen:CN239441 5 137619411 137619411 G A 301019 single nucleotide variant NM_017415.2(KLHL3):c.*2485T>G 573842978 MedGen:CN239441 5 136955302 136955302 A C 301019 single nucleotide variant NM_017415.2(KLHL3):c.*2485T>G 573842978 MedGen:CN239441 5 137619613 137619613 A C 301021 single nucleotide variant NM_017415.2(KLHL3):c.*2472A>C 886059944 MedGen:CN239441 5 136955315 136955315 T G 301021 single nucleotide variant NM_017415.2(KLHL3):c.*2472A>C 886059944 MedGen:CN239441 5 137619626 137619626 T G 301034 single nucleotide variant NM_017415.2(KLHL3):c.*2168T>C 886059946 MedGen:CN239441 5 136955619 136955619 A G 301034 single nucleotide variant NM_017415.2(KLHL3):c.*2168T>C 886059946 MedGen:CN239441 5 137619930 137619930 A G 301035 single nucleotide variant NM_017415.2(KLHL3):c.*2023G>C 886059948 MedGen:CN239441 5 136955764 136955764 C G 301035 single nucleotide variant NM_017415.2(KLHL3):c.*2023G>C 886059948 MedGen:CN239441 5 137620075 137620075 C G 301046 deletion NM_017415.2(KLHL3):c.*317_*320delGTGT 765148714 MedGen:CN239441 5 137621778 137621781 ACAC - 301046 deletion NM_017415.2(KLHL3):c.*317_*320delGTGT 765148714 MedGen:CN239441 5 136957467 136957470 ACAC - 301060 single nucleotide variant NM_017415.2(KLHL3):c.*149G>A 886059957 MedGen:CN239441 5 137621949 137621949 C T 301060 single nucleotide variant NM_017415.2(KLHL3):c.*149G>A 886059957 MedGen:CN239441 5 136957638 136957638 C T 301067 single nucleotide variant NM_017415.2(KLHL3):c.*141C>T 189064290 MedGen:CN239441 5 137621957 137621957 G A 301067 single nucleotide variant NM_017415.2(KLHL3):c.*141C>T 189064290 MedGen:CN239441 5 136957646 136957646 G A 301079 single nucleotide variant NM_017415.2(KLHL3):c.1518C>T (p.Ser506=) 529937913 MedGen:CN239441 5 137628370 137628370 G A 301079 single nucleotide variant NM_017415.2(KLHL3):c.1518C>T (p.Ser506=) 529937913 MedGen:CN239441 5 136964059 136964059 G A 301082 single nucleotide variant NM_017415.2(KLHL3):c.1421C>T (p.Ala474Val) 200144703 MedGen:CN239441 5 137634066 137634066 G A 301082 single nucleotide variant NM_017415.2(KLHL3):c.1421C>T (p.Ala474Val) 200144703 MedGen:CN239441 5 136969755 136969755 G A 301087 single nucleotide variant NM_017415.2(KLHL3):c.1401C>A (p.Thr467=) 35420153 MedGen:CN239441 5 137634086 137634086 G T 301087 single nucleotide variant NM_017415.2(KLHL3):c.1401C>A (p.Thr467=) 35420153 MedGen:CN239441 5 136969775 136969775 G T 301091 single nucleotide variant NM_017415.2(KLHL3):c.*4364A>G 886059935 MedGen:CN239441 5 136953423 136953423 T C 301091 single nucleotide variant NM_017415.2(KLHL3):c.*4364A>G 886059935 MedGen:CN239441 5 137617734 137617734 T C 301094 single nucleotide variant NM_017415.2(KLHL3):c.904-5C>T 375172469 MedGen:CN239441 5 136975671 136975671 G A 301094 single nucleotide variant NM_017415.2(KLHL3):c.904-5C>T 375172469 MedGen:CN239441 5 137639982 137639982 G A 301097 single nucleotide variant NM_017415.2(KLHL3):c.770C>G (p.Ala257Gly) 886059958 MedGen:CN239441 5 136993953 136993953 G C 301097 single nucleotide variant NM_017415.2(KLHL3):c.770C>G (p.Ala257Gly) 886059958 MedGen:CN239441 5 137658264 137658264 G C 301099 single nucleotide variant NM_017415.2(KLHL3):c.*4257A>G 768556632 MedGen:CN239441 5 137617841 137617841 T C 301099 single nucleotide variant NM_017415.2(KLHL3):c.*4257A>G 768556632 MedGen:CN239441 5 136953530 136953530 T C 301103 single nucleotide variant NM_017415.2(KLHL3):c.*4210A>G 6863414 MedGen:CN239441 5 137617888 137617888 T C 301103 single nucleotide variant NM_017415.2(KLHL3):c.*4210A>G 6863414 MedGen:CN239441 5 136953577 136953577 T C 301104 single nucleotide variant NM_017415.2(KLHL3):c.*4065C>T 142781557 MedGen:CN239441 5 137618033 137618033 G A 301104 single nucleotide variant NM_017415.2(KLHL3):c.*4065C>T 142781557 MedGen:CN239441 5 136953722 136953722 G A 301107 single nucleotide variant NM_017415.2(KLHL3):c.756G>A (p.Thr252=) 143617205 MedGen:CN239441 5 136993967 136993967 C T 301107 single nucleotide variant NM_017415.2(KLHL3):c.756G>A (p.Thr252=) 143617205 MedGen:CN239441 5 137658278 137658278 C T 301109 single nucleotide variant NM_017415.2(KLHL3):c.-303G>C 567542768 MedGen:CN239441 5 137071638 137071638 C G 301109 single nucleotide variant NM_017415.2(KLHL3):c.-303G>C 567542768 MedGen:CN239441 5 137735949 137735949 C G 301124 single nucleotide variant NM_017415.2(KLHL3):c.*3920T>G 886059936 MedGen:CN239441 5 137618178 137618178 A C 301124 single nucleotide variant NM_017415.2(KLHL3):c.*3920T>G 886059936 MedGen:CN239441 5 136953867 136953867 A C 301132 single nucleotide variant NM_017415.2(KLHL3):c.*3473T>C 886059937 MedGen:CN239441 5 137618625 137618625 A G 301132 single nucleotide variant NM_017415.2(KLHL3):c.*3473T>C 886059937 MedGen:CN239441 5 136954314 136954314 A G 301133 deletion NM_017415.2(KLHL3):c.*3341delA 886059938 MedGen:CN239441 5 137618757 137618757 T - 301133 deletion NM_017415.2(KLHL3):c.*3341delA 886059938 MedGen:CN239441 5 136954446 136954446 T - 301144 deletion NM_017415.2(KLHL3):c.*3338delT 58917494 MedGen:CN239441 5 137618760 137618760 A - 301144 deletion NM_017415.2(KLHL3):c.*3338delT 58917494 MedGen:CN239441 5 136954449 136954449 A - 301145 insertion NM_017415.2(KLHL3):c.*3204_*3205insT 774186035 MedGen:CN239441 5 137618893 137618894 - A 301145 insertion NM_017415.2(KLHL3):c.*3204_*3205insT 774186035 MedGen:CN239441 5 136954582 136954583 - A 301149 deletion NM_017415.2(KLHL3):c.*3203_*3205delTAA 886059943 MedGen:CN239441 5 137618893 137618895 TTA - 301149 deletion NM_017415.2(KLHL3):c.*3203_*3205delTAA 886059943 MedGen:CN239441 5 136954582 136954584 TTA - 301158 single nucleotide variant NM_017415.2(KLHL3):c.*2763C>T 550345984 MedGen:CN239441 5 137619335 137619335 G A 301158 single nucleotide variant NM_017415.2(KLHL3):c.*2763C>T 550345984 MedGen:CN239441 5 136955024 136955024 G A 301161 single nucleotide variant NM_017415.2(KLHL3):c.*2248C>T 3813317 MedGen:CN239441 5 136955539 136955539 G A 301161 single nucleotide variant NM_017415.2(KLHL3):c.*2248C>T 3813317 MedGen:CN239441 5 137619850 137619850 G A 301170 single nucleotide variant NM_017415.2(KLHL3):c.*2080A>C 3813318 MedGen:CN239441 5 136955707 136955707 T G 301170 single nucleotide variant NM_017415.2(KLHL3):c.*2080A>C 3813318 MedGen:CN239441 5 137620018 137620018 T G 301171 single nucleotide variant NM_017415.2(KLHL3):c.*1916G>A 534983852 MedGen:CN239441 5 136955871 136955871 C T 301171 single nucleotide variant NM_017415.2(KLHL3):c.*1916G>A 534983852 MedGen:CN239441 5 137620182 137620182 C T 301173 single nucleotide variant NM_017415.2(KLHL3):c.*1651C>T 577834025 MedGen:CN239441 5 136956136 136956136 G A 301173 single nucleotide variant NM_017415.2(KLHL3):c.*1651C>T 577834025 MedGen:CN239441 5 137620447 137620447 G A 301183 single nucleotide variant NM_017415.2(KLHL3):c.*1451A>G 149596381 MedGen:CN239441 5 136956336 136956336 T C 301183 single nucleotide variant NM_017415.2(KLHL3):c.*1451A>G 149596381 MedGen:CN239441 5 137620647 137620647 T C 301185 single nucleotide variant NM_017415.2(KLHL3):c.*1434T>G 886059949 MedGen:CN239441 5 136956353 136956353 A C 301185 single nucleotide variant NM_017415.2(KLHL3):c.*1434T>G 886059949 MedGen:CN239441 5 137620664 137620664 A C 301186 single nucleotide variant NM_017415.2(KLHL3):c.*1310C>T 2057680 MedGen:CN239441 5 136956477 136956477 G A 301186 single nucleotide variant NM_017415.2(KLHL3):c.*1310C>T 2057680 MedGen:CN239441 5 137620788 137620788 G A 301187 single nucleotide variant NM_017415.2(KLHL3):c.*1104G>A 7444370 MedGen:CN239441 5 136956683 136956683 C T 301187 single nucleotide variant NM_017415.2(KLHL3):c.*1104G>A 7444370 MedGen:CN239441 5 137620994 137620994 C T 301197 single nucleotide variant NM_017415.2(KLHL3):c.*1055A>G 886059950 MedGen:CN239441 5 137621043 137621043 T C 301197 single nucleotide variant NM_017415.2(KLHL3):c.*1055A>G 886059950 MedGen:CN239441 5 136956732 136956732 T C 301211 deletion NM_017415.2(KLHL3):c.*591_*594delTCTG 886059953 MedGen:CN239441 5 136957193 136957196 CAGA - 301211 deletion NM_017415.2(KLHL3):c.*591_*594delTCTG 886059953 MedGen:CN239441 5 137621504 137621507 CAGA - 301215 single nucleotide variant NM_017415.2(KLHL3):c.*108G>A 147305829 MedGen:CN239441 5 137621990 137621990 C T 301215 single nucleotide variant NM_017415.2(KLHL3):c.*108G>A 147305829 MedGen:CN239441 5 136957679 136957679 C T 301216 single nucleotide variant NM_017415.2(KLHL3):c.*39G>A 762735618 MedGen:CN239441 5 137622059 137622059 C T 301216 single nucleotide variant NM_017415.2(KLHL3):c.*39G>A 762735618 MedGen:CN239441 5 136957748 136957748 C T 301218 single nucleotide variant NM_017415.2(KLHL3):c.1321+10C>T 145091610 MedGen:CN239441 5 137637284 137637284 G A 301218 single nucleotide variant NM_017415.2(KLHL3):c.1321+10C>T 145091610 MedGen:CN239441 5 136972973 136972973 G A 301226 single nucleotide variant NM_017415.2(KLHL3):c.838C>T (p.Leu280=) 138650966 MedGen:CN239441 5 136993885 136993885 G A 301226 single nucleotide variant NM_017415.2(KLHL3):c.838C>T (p.Leu280=) 138650966 MedGen:CN239441 5 137658196 137658196 G A 301253 single nucleotide variant NM_017415.2(KLHL3):c.-344G>T 886059962 MedGen:CN239441 5 137071679 137071679 C A 301253 single nucleotide variant NM_017415.2(KLHL3):c.-344G>T 886059962 MedGen:CN239441 5 137735990 137735990 C A 301264 single nucleotide variant NM_017415.2(KLHL3):c.-352G>A 886059963 MedGen:CN239441 5 137071687 137071687 C T 301264 single nucleotide variant NM_017415.2(KLHL3):c.-352G>A 886059963 MedGen:CN239441 5 137735998 137735998 C T

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 5 136955707 rs3813318 T G rs3813318 2.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T UTR-3 GWASdb_drug 5 137000965 rs11242396 A G rs11242396 4.85E-05 TOCILIZUMAB|METHOTREXATE INTERLEUKIN-6|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED Response to tocilizumab in rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_drug 5 136953007 rs757157 T C rs757157 1.30E-04 Iris characteristics HPOID:0000525 DOID:240 T nearGene-3 GWASdb_trait 5 136955707 rs3813318 T G rs3813318 2.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T UTR-3 GWASdb_trait 5 136965249 rs3777376 T C rs3777376 3.00E-05 Intelligence (childhood) HPOID:0000118 DOID:1561 T intron GWASdb_trait 5 136992179 rs4835709 T C rs4835709 7.26E-05 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 5 136996852 rs11242395 C T rs11242395 6.12E-04 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait 5 136998182 rs10037465 T C rs10037465 9.13E-06 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 5 137000965 rs11242396 A G rs11242396 4.85E-05 Response to tocilizumab in rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 5 137016586 rs4371746 G A rs4371746 6.94E-04 Tourette syndrome HPOID:0000709 DOID:11119|DOID:10933|DOID:1094 G intron GWASdb_trait 5 137018387 rs2905589 A G rs2905589 9.90E-04 Tourette syndrome HPOID:0000709 DOID:11119|DOID:10933|DOID:1094 A intron GWASdb_trait 5 137066853 rs11949856 C T rs11949856 8.05E-04 Tourette syndrome HPOID:0000709 DOID:11119|DOID:10933|DOID:1094 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000146021.14 KLHL3 605775