Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39979 deletion SLX4, 1-BP DEL, 1093C -1 MedGen:CN077628,OMIM:613951 na -1 -1 na na 39980 duplication SLX4, IVS5DS, 1-BP DUP, T, +3 -1 MedGen:CN077628,OMIM:613951 na -1 -1 na na 39981 single nucleotide variant SLX4, IVS5DS, T-A, +2 -1 MedGen:CN077628,OMIM:613951 na -1 -1 na na 39982 deletion SLX4, 1-BP DEL, 514C -1 MedGen:CN077628,OMIM:613951 na -1 -1 na na 39978 deletion SLX4, 1-BP DEL, 286A -1 MedGen:CN077628,OMIM:613951 na -1 -1 na na 39983 indel SLX4, 4,890-BP DEL/2-BP INS -1 MedGen:CN077628,OMIM:613951 na -1 -1 na na 186225 single nucleotide variant NM_032444.2(SLX4):c.3367T>C (p.Ser1123Pro) 201582780 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640272 3640272 A G 186225 single nucleotide variant NM_032444.2(SLX4):c.3367T>C (p.Ser1123Pro) 201582780 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590271 3590271 A G 186226 single nucleotide variant NM_032444.2(SLX4):c.2153T>G (p.Ile718Ser) 770015489 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3644461 3644461 A C 186226 single nucleotide variant NM_032444.2(SLX4):c.2153T>G (p.Ile718Ser) 770015489 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3594460 3594460 A C 208254 single nucleotide variant NM_032444.2(SLX4):c.5281C>T (p.Arg1761Cys) 143818824 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3582566 3582566 G A 208254 single nucleotide variant NM_032444.2(SLX4):c.5281C>T (p.Arg1761Cys) 143818824 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3632567 3632567 G A 208255 single nucleotide variant NM_032444.2(SLX4):c.5029C>T (p.Pro1677Ser) 7196345 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3583221 3583221 G A 208255 single nucleotide variant NM_032444.2(SLX4):c.5029C>T (p.Pro1677Ser) 7196345 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3633222 3633222 G A 208256 single nucleotide variant NM_032444.2(SLX4):c.4241C>T (p.Pro1414Leu) 140892471 MedGen:CN169374 16 3589397 3589397 G A 208256 single nucleotide variant NM_032444.2(SLX4):c.4241C>T (p.Pro1414Leu) 140892471 MedGen:CN169374 16 3639398 3639398 G A 208257 single nucleotide variant NM_032444.2(SLX4):c.710G>A (p.Arg237Gln) 138615800 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3606524 3606524 C T 208257 single nucleotide variant NM_032444.2(SLX4):c.710G>A (p.Arg237Gln) 138615800 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3656525 3656525 C T 213187 single nucleotide variant NM_032444.2(SLX4):c.4648C>T (p.Arg1550Trp) 77021998 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3634861 3634861 G A 213187 single nucleotide variant NM_032444.2(SLX4):c.4648C>T (p.Arg1550Trp) 77021998 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3584860 3584860 G A 213188 single nucleotide variant NM_032444.2(SLX4):c.3774C>T (p.Pro1258=) 146054214 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589864 3589864 G A 213188 single nucleotide variant NM_032444.2(SLX4):c.3774C>T (p.Pro1258=) 146054214 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639865 3639865 G A 213189 indel NM_032444.2(SLX4):c.2854_2855delGCinsAT (p.Ala952Met) 863224277 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:C0027672,SNOMED CT:C0027672 16 3640784 3640785 GC AT 213189 indel NM_032444.2(SLX4):c.2854_2855delGCinsAT (p.Ala952Met) 863224277 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:C0027672,SNOMED CT:C0027672 16 3590783 3590784 GC AT 213190 single nucleotide variant NM_032444.2(SLX4):c.1405C>G (p.Pro469Ala) 763833617 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3647658 3647658 G C 213190 single nucleotide variant NM_032444.2(SLX4):c.1405C>G (p.Pro469Ala) 763833617 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3597657 3597657 G C 213191 single nucleotide variant NM_032444.2(SLX4):c.339T>C (p.Ser113=) 144326379 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608626 3608626 A G 213191 single nucleotide variant NM_032444.2(SLX4):c.339T>C (p.Ser113=) 144326379 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658627 3658627 A G 215515 single nucleotide variant NM_032444.2(SLX4):c.4964G>A (p.Arg1655Lys) 149726415 MedGen:CN169374 16 3633287 3633287 C T 215515 single nucleotide variant NM_032444.2(SLX4):c.4964G>A (p.Arg1655Lys) 149726415 MedGen:CN169374 16 3583286 3583286 C T 222486 deletion NM_032444.2(SLX4):c.3583_3585delATT (p.Ile1195del) 199897550 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640054 3640056 AAT - 222486 deletion NM_032444.2(SLX4):c.3583_3585delATT (p.Ile1195del) 199897550 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590053 3590055 AAT - 222487 single nucleotide variant NM_032444.2(SLX4):c.2193C>T (p.Asp731=) 551541558 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3592833 3592833 G A 222487 single nucleotide variant NM_032444.2(SLX4):c.2193C>T (p.Asp731=) 551541558 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3642834 3642834 G A 236954 single nucleotide variant NM_032444.2(SLX4):c.4046G>C (p.Gly1349Ala) 151144102 MedGen:CN221809 16 3639593 3639593 C G 236954 single nucleotide variant NM_032444.2(SLX4):c.4046G>C (p.Gly1349Ala) 151144102 MedGen:CN221809 16 3589592 3589592 C G 236960 single nucleotide variant NM_032444.2(SLX4):c.2824G>C (p.Glu942Gln) 114014006 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN221809;MedGen:CN169374 16 3590814 3590814 C G 236960 single nucleotide variant NM_032444.2(SLX4):c.2824G>C (p.Glu942Gln) 114014006 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN221809;MedGen:CN169374 16 3640815 3640815 C G 242400 single nucleotide variant NM_032444.2(SLX4):c.5501A>G (p.Asn1834Ser) 111738042 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3582346 3582346 T C 242400 single nucleotide variant NM_032444.2(SLX4):c.5501A>G (p.Asn1834Ser) 111738042 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3632347 3632347 T C 242401 indel NM_032444.2(SLX4):c.5248_5249delGCinsTT (p.Ala1750Leu) 878855163 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3632599 3632600 GC AA 242401 indel NM_032444.2(SLX4):c.5248_5249delGCinsTT (p.Ala1750Leu) 878855163 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3582598 3582599 GC AA 242402 single nucleotide variant NM_032444.2(SLX4):c.5146T>A (p.Ser1716Thr) 75182789 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3583104 3583104 A T 242402 single nucleotide variant NM_032444.2(SLX4):c.5146T>A (p.Ser1716Thr) 75182789 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3633105 3633105 A T 242403 single nucleotide variant NM_032444.2(SLX4):c.4600G>A (p.Gly1534Ser) 78770603 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589038 3589038 C T 242403 single nucleotide variant NM_032444.2(SLX4):c.4600G>A (p.Gly1534Ser) 78770603 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639039 3639039 C T 242404 single nucleotide variant NM_032444.2(SLX4):c.4485G>C (p.Ala1495=) 140872903 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589153 3589153 C G 242404 single nucleotide variant NM_032444.2(SLX4):c.4485G>C (p.Ala1495=) 140872903 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639154 3639154 C G 242405 single nucleotide variant NM_032444.2(SLX4):c.4427C>G (p.Thr1476Ser) 372321470 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639212 3639212 G C 242405 single nucleotide variant NM_032444.2(SLX4):c.4427C>G (p.Thr1476Ser) 372321470 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589211 3589211 G C 242406 single nucleotide variant NM_032444.2(SLX4):c.4338C>T (p.Thr1446=) 77718962 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589300 3589300 G A 242406 single nucleotide variant NM_032444.2(SLX4):c.4338C>T (p.Thr1446=) 77718962 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639301 3639301 G A 242407 single nucleotide variant NM_032444.2(SLX4):c.4115G>A (p.Arg1372Gln) 79174372 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589523 3589523 C T 242407 single nucleotide variant NM_032444.2(SLX4):c.4115G>A (p.Arg1372Gln) 79174372 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639524 3639524 C T 242408 single nucleotide variant NM_032444.2(SLX4):c.4068G>A (p.Pro1356=) 115491049 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589570 3589570 C T 242408 single nucleotide variant NM_032444.2(SLX4):c.4068G>A (p.Pro1356=) 115491049 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639571 3639571 C T 242409 single nucleotide variant NM_032444.2(SLX4):c.4057C>A (p.His1353Asn) 142205392 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589581 3589581 G T 242409 single nucleotide variant NM_032444.2(SLX4):c.4057C>A (p.His1353Asn) 142205392 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639582 3639582 G T 242410 single nucleotide variant NM_032444.2(SLX4):c.3963G>A (p.Pro1321=) 116781836 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589675 3589675 C T 242410 single nucleotide variant NM_032444.2(SLX4):c.3963G>A (p.Pro1321=) 116781836 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639676 3639676 C T 242411 single nucleotide variant NM_032444.2(SLX4):c.3857C>T (p.Ala1286Val) 149011965 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589781 3589781 G A 242411 single nucleotide variant NM_032444.2(SLX4):c.3857C>T (p.Ala1286Val) 149011965 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639782 3639782 G A 242412 single nucleotide variant NM_032444.2(SLX4):c.3738C>T (p.Ser1246=) 376232540 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639901 3639901 G A 242412 single nucleotide variant NM_032444.2(SLX4):c.3738C>T (p.Ser1246=) 376232540 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589900 3589900 G A 242413 deletion NM_032444.2(SLX4):c.3726_3729delGAGC (p.Ser1243Alafs) 878855162 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589909 3589912 GCTC - 242413 deletion NM_032444.2(SLX4):c.3726_3729delGAGC (p.Ser1243Alafs) 878855162 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639910 3639913 GCTC - 242414 single nucleotide variant NM_032444.2(SLX4):c.3673A>G (p.Asn1225Asp) 878855161 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589965 3589965 T C 242414 single nucleotide variant NM_032444.2(SLX4):c.3673A>G (p.Asn1225Asp) 878855161 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639966 3639966 T C 242415 single nucleotide variant NM_032444.2(SLX4):c.3648G>T (p.Gln1216His) 139544666 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589990 3589990 C A 242415 single nucleotide variant NM_032444.2(SLX4):c.3648G>T (p.Gln1216His) 139544666 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639991 3639991 C A 242416 single nucleotide variant NM_032444.2(SLX4):c.3089C>T (p.Pro1030Leu) 774562724 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640550 3640550 G A 242416 single nucleotide variant NM_032444.2(SLX4):c.3089C>T (p.Pro1030Leu) 774562724 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590549 3590549 G A 242417 single nucleotide variant NM_032444.2(SLX4):c.2924C>T (p.Pro975Leu) 114472821 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3590714 3590714 G A 242417 single nucleotide variant NM_032444.2(SLX4):c.2924C>T (p.Pro975Leu) 114472821 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3640715 3640715 G A 242418 single nucleotide variant NM_032444.2(SLX4):c.2786C>T (p.Pro929Leu) 117707719 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640853 3640853 G A 242418 single nucleotide variant NM_032444.2(SLX4):c.2786C>T (p.Pro929Leu) 117707719 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590852 3590852 G A 242419 single nucleotide variant NM_032444.2(SLX4):c.2748C>T (p.Ala916=) 374815885 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590890 3590890 G A 242419 single nucleotide variant NM_032444.2(SLX4):c.2748C>T (p.Ala916=) 374815885 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640891 3640891 G A 242420 single nucleotide variant NM_032444.2(SLX4):c.2746G>T (p.Ala916Ser) 79448721 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3590892 3590892 C A 242420 single nucleotide variant NM_032444.2(SLX4):c.2746G>T (p.Ala916Ser) 79448721 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3640893 3640893 C A 242421 single nucleotide variant NM_032444.2(SLX4):c.2628C>T (p.Asp876=) 201279467 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3641011 3641011 G A 242421 single nucleotide variant NM_032444.2(SLX4):c.2628C>T (p.Asp876=) 201279467 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3591010 3591010 G A 242422 single nucleotide variant NM_032444.2(SLX4):c.2609C>T (p.Ala870Val) 149584080 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3591029 3591029 G A 242422 single nucleotide variant NM_032444.2(SLX4):c.2609C>T (p.Ala870Val) 149584080 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3641030 3641030 G A 242423 deletion NM_032444.2(SLX4):c.2014-10_2014-8delCCT 759422070 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3594607 3594609 AGG - 242423 deletion NM_032444.2(SLX4):c.2014-10_2014-8delCCT 759422070 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3644608 3644610 AGG - 242424 single nucleotide variant NM_032444.2(SLX4):c.1898G>A (p.Gly633Asp) 1056085 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3596179 3596179 C T 242424 single nucleotide variant NM_032444.2(SLX4):c.1898G>A (p.Gly633Asp) 1056085 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3646180 3646180 C T 242425 single nucleotide variant NM_032444.2(SLX4):c.1800G>A (p.Pro600=) 777829533 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3596277 3596277 C T 242425 single nucleotide variant NM_032444.2(SLX4):c.1800G>A (p.Pro600=) 777829533 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3646278 3646278 C T 242426 single nucleotide variant NM_032444.2(SLX4):c.1707G>A (p.Pro569=) 141687678 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3596370 3596370 C T 242426 single nucleotide variant NM_032444.2(SLX4):c.1707G>A (p.Pro569=) 141687678 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3646371 3646371 C T 242427 single nucleotide variant NM_032444.2(SLX4):c.999C>T (p.Ile333=) 7198338 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3601143 3601143 G A 242427 single nucleotide variant NM_032444.2(SLX4):c.999C>T (p.Ile333=) 7198338 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3651144 3651144 G A 242428 single nucleotide variant NM_032444.2(SLX4):c.806C>T (p.Ala269Val) 750475726 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3602262 3602262 G A 242428 single nucleotide variant NM_032444.2(SLX4):c.806C>T (p.Ala269Val) 750475726 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3652263 3652263 G A 242429 single nucleotide variant NM_032444.2(SLX4):c.801G>A (p.Ala267=) 375643423 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3602267 3602267 C T 242429 single nucleotide variant NM_032444.2(SLX4):c.801G>A (p.Ala267=) 375643423 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3652268 3652268 C T 242430 single nucleotide variant NM_032444.2(SLX4):c.590T>C (p.Val197Ala) 147826749 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3606644 3606644 A G 242430 single nucleotide variant NM_032444.2(SLX4):c.590T>C (p.Val197Ala) 147826749 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3656645 3656645 A G 242431 single nucleotide variant NM_032444.2(SLX4):c.528A>C (p.Lys176Asn) 778569160 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608437 3608437 T G 242431 single nucleotide variant NM_032444.2(SLX4):c.528A>C (p.Lys176Asn) 778569160 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658438 3658438 T G 242432 single nucleotide variant NM_032444.2(SLX4):c.421G>T (p.Gly141Trp) 137976282 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608544 3608544 C A 242432 single nucleotide variant NM_032444.2(SLX4):c.421G>T (p.Gly141Trp) 137976282 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658545 3658545 C A 242433 single nucleotide variant NM_032444.2(SLX4):c.336G>A (p.Pro112=) 79126454 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3608629 3608629 C T 242433 single nucleotide variant NM_032444.2(SLX4):c.336G>A (p.Pro112=) 79126454 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3658630 3658630 C T 242434 single nucleotide variant NM_032444.2(SLX4):c.254A>G (p.Gln85Arg) 878855160 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608711 3608711 T C 242434 single nucleotide variant NM_032444.2(SLX4):c.254A>G (p.Gln85Arg) 878855160 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658712 3658712 T C 242435 single nucleotide variant NM_032444.2(SLX4):c.231A>G (p.Gln77=) 143279888 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3608734 3608734 T C 242435 single nucleotide variant NM_032444.2(SLX4):c.231A>G (p.Gln77=) 143279888 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3658735 3658735 T C 242436 single nucleotide variant NM_032444.2(SLX4):c.90C>T (p.Ser30=) 118089506 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608875 3608875 G A 242436 single nucleotide variant NM_032444.2(SLX4):c.90C>T (p.Ser30=) 118089506 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658876 3658876 G A 247117 single nucleotide variant NM_032444.2(SLX4):c.4739+5G>A 879255425 MedGen:CN169374 16 3634765 3634765 C T 247117 single nucleotide variant NM_032444.2(SLX4):c.4739+5G>A 879255425 MedGen:CN169374 16 3584764 3584764 C T 255707 single nucleotide variant NM_032444.2(SLX4):c.*8A>G 3751839 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3632335 3632335 T C 255707 single nucleotide variant NM_032444.2(SLX4):c.*8A>G 3751839 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3582334 3582334 T C 255708 single nucleotide variant NM_032444.2(SLX4):c.4581G>A (p.Pro1527=) 78635099 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589057 3589057 C T 255708 single nucleotide variant NM_032444.2(SLX4):c.4581G>A (p.Pro1527=) 78635099 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639058 3639058 C T 255709 single nucleotide variant NM_032444.2(SLX4):c.4500T>C (p.Asn1500=) 3810812 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589138 3589138 A G 255709 single nucleotide variant NM_032444.2(SLX4):c.4500T>C (p.Asn1500=) 3810812 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639139 3639139 A G 255710 single nucleotide variant NM_032444.2(SLX4):c.4359C>T (p.Ser1453=) 776711072 MedGen:CN169374 16 3589279 3589279 G A 255710 single nucleotide variant NM_032444.2(SLX4):c.4359C>T (p.Ser1453=) 776711072 MedGen:CN169374 16 3639280 3639280 G A 255711 single nucleotide variant NM_032444.2(SLX4):c.3868C>A (p.His1290Asn) 112596894 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589770 3589770 G T 255711 single nucleotide variant NM_032444.2(SLX4):c.3868C>A (p.His1290Asn) 112596894 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639771 3639771 G T 255712 single nucleotide variant NM_032444.2(SLX4):c.3812C>T (p.Ser1271Phe) 3810813 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589826 3589826 G A 255712 single nucleotide variant NM_032444.2(SLX4):c.3812C>T (p.Ser1271Phe) 3810813 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639827 3639827 G A 255713 single nucleotide variant NM_032444.2(SLX4):c.3783G>A (p.Pro1261=) 77699867 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589855 3589855 C T 255713 single nucleotide variant NM_032444.2(SLX4):c.3783G>A (p.Pro1261=) 77699867 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639856 3639856 C T 255714 single nucleotide variant NM_032444.2(SLX4):c.3662C>T (p.Ala1221Val) 3827530 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3589976 3589976 G A 255714 single nucleotide variant NM_032444.2(SLX4):c.3662C>T (p.Ala1221Val) 3827530 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3639977 3639977 G A 255715 single nucleotide variant NM_032444.2(SLX4):c.3365C>T (p.Pro1122Leu) 714181 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3640274 3640274 G A 255715 single nucleotide variant NM_032444.2(SLX4):c.3365C>T (p.Pro1122Leu) 714181 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3590273 3590273 G A 255716 single nucleotide variant NM_032444.2(SLX4):c.3162G>A (p.Ser1054=) 76488917 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3590476 3590476 C T 255716 single nucleotide variant NM_032444.2(SLX4):c.3162G>A (p.Ser1054=) 76488917 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3640477 3640477 C T 255717 single nucleotide variant NM_032444.2(SLX4):c.2855C>T (p.Ala952Val) 78637028 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3590783 3590783 G A 255717 single nucleotide variant NM_032444.2(SLX4):c.2855C>T (p.Ala952Val) 78637028 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3640784 3640784 G A 255718 single nucleotide variant NM_032444.2(SLX4):c.2854G>A (p.Ala952Thr) 59939128 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3590784 3590784 C T 255718 single nucleotide variant NM_032444.2(SLX4):c.2854G>A (p.Ala952Thr) 59939128 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3640785 3640785 C T 255719 single nucleotide variant NM_032444.2(SLX4):c.2844G>A (p.Ala948=) 376877866 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3590794 3590794 C T 255719 single nucleotide variant NM_032444.2(SLX4):c.2844G>A (p.Ala948=) 376877866 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3640795 3640795 C T 255720 single nucleotide variant NM_032444.2(SLX4):c.2160+50C>T 75762935 MedGen:CN169374 16 3594403 3594403 G A 255720 single nucleotide variant NM_032444.2(SLX4):c.2160+50C>T 75762935 MedGen:CN169374 16 3644404 3644404 G A 255721 single nucleotide variant NM_032444.2(SLX4):c.2013+23G>A 112226642 MedGen:CN169374 16 3595582 3595582 C T 255721 single nucleotide variant NM_032444.2(SLX4):c.2013+23G>A 112226642 MedGen:CN169374 16 3645583 3645583 C T 255722 single nucleotide variant NM_032444.2(SLX4):c.2012T>C (p.Leu671Ser) 77985244 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3595606 3595606 A G 255722 single nucleotide variant NM_032444.2(SLX4):c.2012T>C (p.Leu671Ser) 77985244 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3645607 3645607 A G 255723 single nucleotide variant NM_032444.2(SLX4):c.1925-30G>A 149916101 MedGen:CN169374 16 3595723 3595723 C T 255723 single nucleotide variant NM_032444.2(SLX4):c.1925-30G>A 149916101 MedGen:CN169374 16 3645724 3645724 C T 255724 single nucleotide variant NM_032444.2(SLX4):c.1803G>A (p.Ser601=) 144892556 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3596274 3596274 C T 255724 single nucleotide variant NM_032444.2(SLX4):c.1803G>A (p.Ser601=) 144892556 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3646275 3646275 C T 255725 single nucleotide variant NM_032444.2(SLX4):c.1755C>T (p.Pro585=) 114016359 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3596322 3596322 G A 255725 single nucleotide variant NM_032444.2(SLX4):c.1755C>T (p.Pro585=) 114016359 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3646323 3646323 G A 255726 single nucleotide variant NM_032444.2(SLX4):c.1563T>C (p.Pro521=) 146360238 MedGen:CN169374 16 3597499 3597499 A G 255726 single nucleotide variant NM_032444.2(SLX4):c.1563T>C (p.Pro521=) 146360238 MedGen:CN169374 16 3647500 3647500 A G 255727 single nucleotide variant NM_032444.2(SLX4):c.1371T>G (p.Asn457Lys) 74319927 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3647692 3647692 A C 255727 single nucleotide variant NM_032444.2(SLX4):c.1371T>G (p.Asn457Lys) 74319927 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3597691 3597691 A C 255728 single nucleotide variant NM_032444.2(SLX4):c.1366+11T>C 76350200 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3597786 3597786 A G 255728 single nucleotide variant NM_032444.2(SLX4):c.1366+11T>C 76350200 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3647787 3647787 A G 255729 single nucleotide variant NM_032444.2(SLX4):c.1163+10C>T 80116508 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3600969 3600969 G A 255729 single nucleotide variant NM_032444.2(SLX4):c.1163+10C>T 80116508 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3650970 3650970 G A 255730 single nucleotide variant NM_032444.2(SLX4):c.1156A>G (p.Met386Val) 113490934 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3600986 3600986 T C 255730 single nucleotide variant NM_032444.2(SLX4):c.1156A>G (p.Met386Val) 113490934 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3650987 3650987 T C 255731 single nucleotide variant NM_032444.2(SLX4):c.1153C>A (p.Pro385Thr) 115694169 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3600989 3600989 G T 255731 single nucleotide variant NM_032444.2(SLX4):c.1153C>A (p.Pro385Thr) 115694169 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3650990 3650990 G T 255732 single nucleotide variant NM_032444.2(SLX4):c.1152A>G (p.Pro384=) 112511042 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3600990 3600990 T C 255732 single nucleotide variant NM_032444.2(SLX4):c.1152A>G (p.Pro384=) 112511042 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3650991 3650991 T C 255733 single nucleotide variant NM_032444.2(SLX4):c.753G>A (p.Ala251=) 8061528 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3606481 3606481 C T 255733 single nucleotide variant NM_032444.2(SLX4):c.753G>A (p.Ala251=) 8061528 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3656482 3656482 C T 255734 single nucleotide variant NM_032444.2(SLX4):c.678C>T (p.His226=) 28516461 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3606556 3606556 G A 255734 single nucleotide variant NM_032444.2(SLX4):c.678C>T (p.His226=) 28516461 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3656557 3656557 G A 255735 single nucleotide variant NM_032444.2(SLX4):c.610C>T (p.Arg204Cys) 79842542 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3606624 3606624 G A 255735 single nucleotide variant NM_032444.2(SLX4):c.610C>T (p.Arg204Cys) 79842542 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3656625 3656625 G A 255736 single nucleotide variant NM_032444.2(SLX4):c.555C>T (p.Asp185=) 74640850 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3656680 3656680 G A 255736 single nucleotide variant NM_032444.2(SLX4):c.555C>T (p.Asp185=) 74640850 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 16 3606679 3606679 G A 325256 single nucleotide variant NM_032444.2(SLX4):c.*811G>C 371879504 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631532 3631532 C G 325256 single nucleotide variant NM_032444.2(SLX4):c.*811G>C 371879504 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581531 3581531 C G 325266 single nucleotide variant NM_032444.2(SLX4):c.*655G>A 116003727 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631688 3631688 C T 325266 single nucleotide variant NM_032444.2(SLX4):c.*655G>A 116003727 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581687 3581687 C T 325275 single nucleotide variant NM_032444.2(SLX4):c.*469A>T 868278470 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631874 3631874 T A 325275 single nucleotide variant NM_032444.2(SLX4):c.*469A>T 868278470 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581873 3581873 T A 325276 deletion NM_032444.2(SLX4):c.*298_*301delTTTT 566716185 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3632042 3632045 AAAA - 325276 deletion NM_032444.2(SLX4):c.*298_*301delTTTT 566716185 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3582041 3582044 AAAA - 325280 single nucleotide variant NM_032444.2(SLX4):c.*168T>G 886051975 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3632175 3632175 A C 325280 single nucleotide variant NM_032444.2(SLX4):c.*168T>G 886051975 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3582174 3582174 A C 325281 single nucleotide variant NM_032444.2(SLX4):c.5060C>G (p.Pro1687Arg) 765960272 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3583190 3583190 G C 325281 single nucleotide variant NM_032444.2(SLX4):c.5060C>G (p.Pro1687Arg) 765960272 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3633191 3633191 G C 325283 single nucleotide variant NM_032444.2(SLX4):c.4750C>T (p.Arg1584Cys) 560866356 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3583500 3583500 G A 325283 single nucleotide variant NM_032444.2(SLX4):c.4750C>T (p.Arg1584Cys) 560866356 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3633501 3633501 G A 325299 single nucleotide variant NM_032444.2(SLX4):c.3913G>A (p.Ala1305Thr) 763524714 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589725 3589725 C T 325299 single nucleotide variant NM_032444.2(SLX4):c.3913G>A (p.Ala1305Thr) 763524714 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639726 3639726 C T 325301 single nucleotide variant NM_032444.2(SLX4):c.1976C>T (p.Ser659Leu) 372150541 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3645643 3645643 G A 325301 single nucleotide variant NM_032444.2(SLX4):c.1976C>T (p.Ser659Leu) 372150541 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3595642 3595642 G A 325303 single nucleotide variant NM_032444.2(SLX4):c.1324A>C (p.Arg442=) 886051980 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3647840 3647840 T G 325303 single nucleotide variant NM_032444.2(SLX4):c.1324A>C (p.Arg442=) 886051980 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3597839 3597839 T G 325312 single nucleotide variant NM_032444.2(SLX4):c.742G>A (p.Glu248Lys) 148547201 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3656493 3656493 C T 325312 single nucleotide variant NM_032444.2(SLX4):c.742G>A (p.Glu248Lys) 148547201 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3606492 3606492 C T 325313 single nucleotide variant NM_032444.2(SLX4):c.13G>A (p.Val5Met) 750091754 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608952 3608952 C T 325313 single nucleotide variant NM_032444.2(SLX4):c.13G>A (p.Val5Met) 750091754 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658953 3658953 C T 325315 single nucleotide variant NM_032444.2(SLX4):c.-104A>G 73505426 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609068 3609068 T C 325315 single nucleotide variant NM_032444.2(SLX4):c.-104A>G 73505426 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659069 3659069 T C 325322 deletion NM_032444.2(SLX4):c.-143_-140delAACA 779611690 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659105 3659108 TGTT - 325322 deletion NM_032444.2(SLX4):c.-143_-140delAACA 779611690 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609104 3609107 TGTT - 325330 single nucleotide variant NM_032444.2(SLX4):c.-210G>A 747849749 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609174 3609174 C T 325330 single nucleotide variant NM_032444.2(SLX4):c.-210G>A 747849749 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659175 3659175 C T 325332 single nucleotide variant NM_032444.2(SLX4):c.-602-6C>G 886051986 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609572 3609572 G C 325332 single nucleotide variant NM_032444.2(SLX4):c.-602-6C>G 886051986 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659573 3659573 G C 334909 single nucleotide variant NM_032444.2(SLX4):c.*1095G>A 116498263 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631248 3631248 C T 334909 single nucleotide variant NM_032444.2(SLX4):c.*1095G>A 116498263 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581247 3581247 C T 334911 single nucleotide variant NM_032444.2(SLX4):c.*652A>G 546917026 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631691 3631691 T C 334911 single nucleotide variant NM_032444.2(SLX4):c.*652A>G 546917026 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581690 3581690 T C 334912 single nucleotide variant NM_032444.2(SLX4):c.*555C>T 146163310 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631788 3631788 G A 334912 single nucleotide variant NM_032444.2(SLX4):c.*555C>T 146163310 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581787 3581787 G A 334914 single nucleotide variant NM_032444.2(SLX4):c.*374C>T 369843531 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631969 3631969 G A 334914 single nucleotide variant NM_032444.2(SLX4):c.*374C>T 369843531 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581968 3581968 G A 334915 single nucleotide variant NM_032444.2(SLX4):c.*311G>A 749668095 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3632032 3632032 C T 334915 single nucleotide variant NM_032444.2(SLX4):c.*311G>A 749668095 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3582031 3582031 C T 334916 single nucleotide variant NM_032444.2(SLX4):c.*98A>G 551538592 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3582244 3582244 T C 334916 single nucleotide variant NM_032444.2(SLX4):c.*98A>G 551538592 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3632245 3632245 T C 334920 single nucleotide variant NM_032444.2(SLX4):c.5418C>G (p.Ile1806Met) 886051976 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3582429 3582429 G C 334920 single nucleotide variant NM_032444.2(SLX4):c.5418C>G (p.Ile1806Met) 886051976 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3632430 3632430 G C 334921 single nucleotide variant NM_032444.2(SLX4):c.4546G>A (p.Gly1516Arg) 775915651 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589092 3589092 C T 334921 single nucleotide variant NM_032444.2(SLX4):c.4546G>A (p.Gly1516Arg) 775915651 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639093 3639093 C T 334928 single nucleotide variant NM_032444.2(SLX4):c.4494G>A (p.Leu1498=) 146532299 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589144 3589144 C T 334928 single nucleotide variant NM_032444.2(SLX4):c.4494G>A (p.Leu1498=) 146532299 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639145 3639145 C T 334930 single nucleotide variant NM_032444.2(SLX4):c.1740C>T (p.Ser580=) 200354014 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3596337 3596337 G A 334930 single nucleotide variant NM_032444.2(SLX4):c.1740C>T (p.Ser580=) 200354014 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3646338 3646338 G A 334937 single nucleotide variant NM_032444.2(SLX4):c.1415T>C (p.Leu472Ser) 776189589 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3647648 3647648 A G 334937 single nucleotide variant NM_032444.2(SLX4):c.1415T>C (p.Leu472Ser) 776189589 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3597647 3597647 A G 334940 single nucleotide variant NM_032444.2(SLX4):c.1115G>A (p.Arg372Gln) 372956623 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3651028 3651028 C T 334940 single nucleotide variant NM_032444.2(SLX4):c.1115G>A (p.Arg372Gln) 372956623 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3601027 3601027 C T 334947 single nucleotide variant NM_032444.2(SLX4):c.752C>T (p.Ala251Val) 201117707 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3656483 3656483 G A 334947 single nucleotide variant NM_032444.2(SLX4):c.752C>T (p.Ala251Val) 201117707 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3606482 3606482 G A 334950 single nucleotide variant NM_032444.2(SLX4):c.489T>G (p.Gly163=) 201211891 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658477 3658477 A C 334950 single nucleotide variant NM_032444.2(SLX4):c.489T>G (p.Gly163=) 201211891 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608476 3608476 A C 334951 single nucleotide variant NM_032444.2(SLX4):c.360T>C (p.Thr120=) 886051982 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608605 3608605 A G 334951 single nucleotide variant NM_032444.2(SLX4):c.360T>C (p.Thr120=) 886051982 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658606 3658606 A G 334957 single nucleotide variant NM_032444.2(SLX4):c.-271G>A 149773885 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609235 3609235 C T 334957 single nucleotide variant NM_032444.2(SLX4):c.-271G>A 149773885 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659236 3659236 C T 334959 single nucleotide variant NM_032444.2(SLX4):c.-616C>T 886051988 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3611573 3611573 G A 334959 single nucleotide variant NM_032444.2(SLX4):c.-616C>T 886051988 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3661574 3661574 G A 341359 single nucleotide variant NM_032444.2(SLX4):c.*1150G>C 886051972 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631193 3631193 C G 341359 single nucleotide variant NM_032444.2(SLX4):c.*1150G>C 886051972 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581192 3581192 C G 341361 single nucleotide variant NM_032444.2(SLX4):c.*1022A>G 78346491 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631321 3631321 T C 341361 single nucleotide variant NM_032444.2(SLX4):c.*1022A>G 78346491 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581320 3581320 T C 341362 single nucleotide variant NM_032444.2(SLX4):c.*871A>G 886051974 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631472 3631472 T C 341362 single nucleotide variant NM_032444.2(SLX4):c.*871A>G 886051974 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581471 3581471 T C 341365 single nucleotide variant NM_032444.2(SLX4):c.*128A>G 528843807 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3632215 3632215 T C 341365 single nucleotide variant NM_032444.2(SLX4):c.*128A>G 528843807 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3582214 3582214 T C 341370 single nucleotide variant NM_032444.2(SLX4):c.*113C>T 76661336 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3632230 3632230 G A 341370 single nucleotide variant NM_032444.2(SLX4):c.*113C>T 76661336 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3582229 3582229 G A 341389 single nucleotide variant NM_032444.2(SLX4):c.3940C>A (p.Gln1314Lys) 142040192 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639699 3639699 G T 341380 single nucleotide variant NM_032444.2(SLX4):c.5027C>T (p.Thr1676Ile) 377544881 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3583223 3583223 G A 341380 single nucleotide variant NM_032444.2(SLX4):c.5027C>T (p.Thr1676Ile) 377544881 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3633224 3633224 G A 341385 deletion NM_032444.2(SLX4):c.4656_4658delGAA (p.Lys1552del) 760517738 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3584850 3584852 TTC - 341385 deletion NM_032444.2(SLX4):c.4656_4658delGAA (p.Lys1552del) 760517738 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3634851 3634853 TTC - 341389 single nucleotide variant NM_032444.2(SLX4):c.3940C>A (p.Gln1314Lys) 142040192 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589698 3589698 G T 341391 single nucleotide variant NM_032444.2(SLX4):c.3912C>T (p.Val1304=) 140254478 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589726 3589726 G A 341391 single nucleotide variant NM_032444.2(SLX4):c.3912C>T (p.Val1304=) 140254478 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639727 3639727 G A 341392 single nucleotide variant NM_032444.2(SLX4):c.3841G>A (p.Gly1281Arg) 754996241 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589797 3589797 C T 341392 single nucleotide variant NM_032444.2(SLX4):c.3841G>A (p.Gly1281Arg) 754996241 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639798 3639798 C T 341398 single nucleotide variant NM_032444.2(SLX4):c.3087A>T (p.Pro1029=) 746254787 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590551 3590551 T A 341398 single nucleotide variant NM_032444.2(SLX4):c.3087A>T (p.Pro1029=) 746254787 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640552 3640552 T A 341400 single nucleotide variant NM_032444.2(SLX4):c.2991G>A (p.Pro997=) 770736311 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590647 3590647 C T 341400 single nucleotide variant NM_032444.2(SLX4):c.2991G>A (p.Pro997=) 770736311 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640648 3640648 C T 341410 single nucleotide variant NM_032444.2(SLX4):c.2882C>T (p.Pro961Leu) 886051978 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590756 3590756 G A 341410 single nucleotide variant NM_032444.2(SLX4):c.2882C>T (p.Pro961Leu) 886051978 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640757 3640757 G A 341415 single nucleotide variant NM_032444.2(SLX4):c.2585G>A (p.Arg862Gln) 143558209 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3641054 3641054 C T 341415 single nucleotide variant NM_032444.2(SLX4):c.2585G>A (p.Arg862Gln) 143558209 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3591053 3591053 C T 341416 single nucleotide variant NM_032444.2(SLX4):c.2235C>T (p.Thr745=) 75184268 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3642792 3642792 G A 341416 single nucleotide variant NM_032444.2(SLX4):c.2235C>T (p.Thr745=) 75184268 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3592791 3592791 G A 341418 single nucleotide variant NM_032444.2(SLX4):c.2125G>A (p.Val709Met) 151026877 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3644489 3644489 C T 341418 single nucleotide variant NM_032444.2(SLX4):c.2125G>A (p.Val709Met) 151026877 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3594488 3594488 C T 341426 single nucleotide variant NM_032444.2(SLX4):c.1941C>T (p.Pro647=) 540288743 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3645678 3645678 G A 341426 single nucleotide variant NM_032444.2(SLX4):c.1941C>T (p.Pro647=) 540288743 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3595677 3595677 G A 341428 single nucleotide variant NM_032444.2(SLX4):c.1911G>T (p.Ser637=) 200013924 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3646167 3646167 C A 341428 single nucleotide variant NM_032444.2(SLX4):c.1911G>T (p.Ser637=) 200013924 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3596166 3596166 C A 341429 single nucleotide variant NM_032444.2(SLX4):c.890A>G (p.Gln297Arg) 778643553 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3652179 3652179 T C 341429 single nucleotide variant NM_032444.2(SLX4):c.890A>G (p.Gln297Arg) 778643553 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3602178 3602178 T C 341430 single nucleotide variant NM_032444.2(SLX4):c.-19G>A 113845637 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608983 3608983 C T 341430 single nucleotide variant NM_032444.2(SLX4):c.-19G>A 113845637 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658984 3658984 C T 341432 single nucleotide variant NM_032444.2(SLX4):c.-46G>A 113023461 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609010 3609010 C T 341432 single nucleotide variant NM_032444.2(SLX4):c.-46G>A 113023461 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659011 3659011 C T 341433 single nucleotide variant NM_032444.2(SLX4):c.-112C>A 779687936 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609076 3609076 G T 341433 single nucleotide variant NM_032444.2(SLX4):c.-112C>A 779687936 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659077 3659077 G T 341437 duplication NM_032444.2(SLX4):c.-211dupC 149138178 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609175 3609175 G GG 341437 duplication NM_032444.2(SLX4):c.-211dupC 149138178 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659176 3659176 G GG 341438 single nucleotide variant NM_032444.2(SLX4):c.-305C>T 886051983 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609269 3609269 G A 341438 single nucleotide variant NM_032444.2(SLX4):c.-305C>T 886051983 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659270 3659270 G A 341444 single nucleotide variant NM_032444.2(SLX4):c.-359C>G 57910835 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609323 3609323 G C 341444 single nucleotide variant NM_032444.2(SLX4):c.-359C>G 57910835 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659324 3659324 G C 341445 single nucleotide variant NM_032444.2(SLX4):c.-395C>T 886051984 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609359 3609359 G A 341445 single nucleotide variant NM_032444.2(SLX4):c.-395C>T 886051984 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659360 3659360 G A 341450 single nucleotide variant NM_032444.2(SLX4):c.-580T>C 886051985 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609544 3609544 A G 341450 single nucleotide variant NM_032444.2(SLX4):c.-580T>C 886051985 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659545 3659545 A G 342868 single nucleotide variant NM_032444.2(SLX4):c.*1004A>G 75773027 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631339 3631339 T C 342868 single nucleotide variant NM_032444.2(SLX4):c.*1004A>G 75773027 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581338 3581338 T C 342874 single nucleotide variant NM_032444.2(SLX4):c.*984C>T 57699393 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631359 3631359 G A 342874 single nucleotide variant NM_032444.2(SLX4):c.*984C>T 57699393 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581358 3581358 G A 342875 single nucleotide variant NM_032444.2(SLX4):c.*957C>T 886051973 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631386 3631386 G A 342875 single nucleotide variant NM_032444.2(SLX4):c.*957C>T 886051973 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581385 3581385 G A 342876 single nucleotide variant NM_032444.2(SLX4):c.*807G>A 115690937 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631536 3631536 C T 342876 single nucleotide variant NM_032444.2(SLX4):c.*807G>A 115690937 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581535 3581535 C T 342877 single nucleotide variant NM_032444.2(SLX4):c.*721T>C 75146816 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631622 3631622 A G 342877 single nucleotide variant NM_032444.2(SLX4):c.*721T>C 75146816 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581621 3581621 A G 342888 single nucleotide variant NM_032444.2(SLX4):c.*658T>C 541410329 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3631685 3631685 A G 342888 single nucleotide variant NM_032444.2(SLX4):c.*658T>C 541410329 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3581684 3581684 A G 342891 single nucleotide variant NM_032444.2(SLX4):c.5042C>T (p.Ser1681Leu) 530123827 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3583208 3583208 G A 342891 single nucleotide variant NM_032444.2(SLX4):c.5042C>T (p.Ser1681Leu) 530123827 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3633209 3633209 G A 342896 single nucleotide variant NM_032444.2(SLX4):c.4918G>C (p.Gly1640Arg) 368102037 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3633333 3633333 C G 342896 single nucleotide variant NM_032444.2(SLX4):c.4918G>C (p.Gly1640Arg) 368102037 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3583332 3583332 C G 342897 single nucleotide variant NM_032444.2(SLX4):c.4889C>A (p.Ala1630Asp) 886051977 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3583361 3583361 G T 342897 single nucleotide variant NM_032444.2(SLX4):c.4889C>A (p.Ala1630Asp) 886051977 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3633362 3633362 G T 342899 single nucleotide variant NM_032444.2(SLX4):c.4347G>A (p.Leu1449=) 373300793 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3589291 3589291 C T 342899 single nucleotide variant NM_032444.2(SLX4):c.4347G>A (p.Leu1449=) 373300793 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3639292 3639292 C T 342906 single nucleotide variant NM_032444.2(SLX4):c.3118C>T (p.Pro1040Ser) 201359490 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590520 3590520 G A 342906 single nucleotide variant NM_032444.2(SLX4):c.3118C>T (p.Pro1040Ser) 201359490 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640521 3640521 G A 342909 single nucleotide variant NM_032444.2(SLX4):c.3062G>C (p.Arg1021Pro) 200842643 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590576 3590576 C G 342909 single nucleotide variant NM_032444.2(SLX4):c.3062G>C (p.Arg1021Pro) 200842643 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640577 3640577 C G 342910 single nucleotide variant NM_032444.2(SLX4):c.2975G>A (p.Gly992Glu) 139287784 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590663 3590663 C T 342910 single nucleotide variant NM_032444.2(SLX4):c.2975G>A (p.Gly992Glu) 139287784 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640664 3640664 C T 342946 single nucleotide variant NM_032444.2(SLX4):c.-381A>G 375326827 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659346 3659346 T C 342917 single nucleotide variant NM_032444.2(SLX4):c.2681T>G (p.Val894Gly) 145137472 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3590957 3590957 A C 342917 single nucleotide variant NM_032444.2(SLX4):c.2681T>G (p.Val894Gly) 145137472 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3640958 3640958 A C 342920 single nucleotide variant NM_032444.2(SLX4):c.2057A>G (p.Asn686Ser) 571330689 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3644557 3644557 T C 342920 single nucleotide variant NM_032444.2(SLX4):c.2057A>G (p.Asn686Ser) 571330689 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3594556 3594556 T C 342923 single nucleotide variant NM_032444.2(SLX4):c.2006G>A (p.Arg669His) 200807331 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3645613 3645613 C T 342923 single nucleotide variant NM_032444.2(SLX4):c.2006G>A (p.Arg669His) 200807331 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3595612 3595612 C T 342927 single nucleotide variant NM_032444.2(SLX4):c.1583G>A (p.Ser528Asn) 752899329 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3647480 3647480 C T 342927 single nucleotide variant NM_032444.2(SLX4):c.1583G>A (p.Ser528Asn) 752899329 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3597479 3597479 C T 342931 single nucleotide variant NM_032444.2(SLX4):c.1547C>T (p.Ala516Val) 199683722 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3647516 3647516 G A 342931 single nucleotide variant NM_032444.2(SLX4):c.1547C>T (p.Ala516Val) 199683722 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3597515 3597515 G A 342932 single nucleotide variant NM_032444.2(SLX4):c.1520G>A (p.Arg507Lys) 762550449 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3647543 3647543 C T 342932 single nucleotide variant NM_032444.2(SLX4):c.1520G>A (p.Arg507Lys) 762550449 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3597542 3597542 C T 342934 single nucleotide variant NM_032444.2(SLX4):c.1325G>C (p.Arg442Thr) 886051979 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3597838 3597838 C G 342934 single nucleotide variant NM_032444.2(SLX4):c.1325G>C (p.Arg442Thr) 886051979 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3647839 3647839 C G 342939 single nucleotide variant NM_032444.2(SLX4):c.1110T>C (p.Ala370=) 886051981 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3651033 3651033 A G 342939 single nucleotide variant NM_032444.2(SLX4):c.1110T>C (p.Ala370=) 886051981 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3601032 3601032 A G 342940 single nucleotide variant NM_032444.2(SLX4):c.561G>T (p.Gln187His) 778738306 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3656674 3656674 C A 342940 single nucleotide variant NM_032444.2(SLX4):c.561G>T (p.Gln187His) 778738306 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3606673 3606673 C A 342944 single nucleotide variant NM_032444.2(SLX4):c.-21G>C 200717103 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3608985 3608985 C G 342944 single nucleotide variant NM_032444.2(SLX4):c.-21G>C 200717103 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3658986 3658986 C G 342945 single nucleotide variant NM_032444.2(SLX4):c.-295A>G 59311338 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609259 3609259 T C 342945 single nucleotide variant NM_032444.2(SLX4):c.-295A>G 59311338 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659260 3659260 T C 342946 single nucleotide variant NM_032444.2(SLX4):c.-381A>G 375326827 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609345 3609345 T C 342947 single nucleotide variant NM_032444.2(SLX4):c.-416G>A 528320603 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3609380 3609380 C T 342947 single nucleotide variant NM_032444.2(SLX4):c.-416G>A 528320603 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3659381 3659381 C T 342950 single nucleotide variant NM_032444.2(SLX4):c.-603+8G>C 886051987 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3611552 3611552 C G 342950 single nucleotide variant NM_032444.2(SLX4):c.-603+8G>C 886051987 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 16 3661553 3661553 C G

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 16 3640274 rs714181 G A rs714181 6.76E-07 PACLITAXEL ANTINEOPLASTIC AGENTS, PHYTOGENIC|TUBULIN MODULATORS|RNA, MESSENGER Paclitaxel sensitivity in NCI60 cancer cell lines HPOID:0100615|HPOID:0003002 DOID:1612|DOID:2394 T missense GWASdb_drug 16 3639827 rs3810813 G A rs3810813 0.00035 Breast cancer HPOID:0003002 DOID:1612 G missense GWASdb_trait 16 3640274 rs714181 G A rs714181 6.76E-07 Paclitaxel sensitivity in NCI60 cancer cell lines HPOID:0100615|HPOID:0003002 DOID:1612|DOID:2394 T missense GWASdb_trait 16 3642817 rs146901714 C T rs146901714 0.00006 Breast cancer HPOID:0003002 DOID:1612 C missense GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000188827.10 SLX4 613278