ClinVar (all) for Orgtrack (Select 506414) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048510	NM_000512.5(GALNS):c.1365-1G>A	GALNS, LOC126862447	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048509	NM_000512.5:c.(1364+1_1365-1)_(1482+1_1483-1)del	GALNS	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048508	NM_000512.5(GALNS):c.1361T>C (p.Leu454Pro)	GALNS (L269P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048507	NM_000512.5(GALNS):c.1355dup (p.Leu454fs)	GALNS (L269fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048506	NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)	GALNS (F267L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048505	NM_000512.5(GALNS):c.1349A>G (p.Glu450Gly)	GALNS (E265G +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048504	NM_000512.5(GALNS):c.1349A>T (p.Glu450Val)	GALNS (E265V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048503	NM_000512.5(GALNS):c.1334G>A (p.Gly445Glu)	GALNS (G260E +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048502	NM_000512.5(GALNS):c.1319del (p.Leu440fs)	GALNS (L255fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048501	NM_000512.5(GALNS):c.1290_1291del (p.His430fs)	GALNS (H245fs +2 more)	Microsatellite (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048500	NM_000512.5(GALNS):c.1275del (p.Val427fs)	GALNS (V242fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048499	NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)	GALNS (Q237* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048498	NM_000512.5(GALNS):c.1264C>A (p.Gln422Lys)	GALNS (Q237K +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048497	NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu)	GALNS (G236E +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048496	NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter)	GALNS (Q189* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048495	NM_000512.5(GALNS):c.1114del (p.Leu372fs)	GALNS (L187fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048494	NM_000512.5(GALNS):c.1106T>C (p.Leu369Pro)	GALNS (L184P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048493	NM_000512.5(GALNS):c.1094G>T (p.Gly365Val)	GALNS (G180V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048492	NM_000512.5(GALNS):c.1082G>T (p.Arg361Met)	GALNS (R176M +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048491	NM_000512.5(GALNS):c.1070del (p.Pro357fs)	GALNS (P172fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1048490	NM_000512.5(GALNS):c.1058C>A (p.Ala353Glu)	GALNS (A168E +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048489	NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro)	GALNS (L167P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048488	NM_000512.5(GALNS):c.1052C>T (p.Ala351Val)	GALNS (A166V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GUncertain significance
Select item 1048487	NM_000512.5(GALNS):c.1046del (p.Ser349fs)	GALNS (S164fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048486	NM_000512.5(GALNS):c.1043C>A (p.Thr348Asn)	GALNS (T163N +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048485	NM_000512.5(GALNS):c.1042A>G (p.Thr348Ala)	GALNS (T163A +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048484	NM_000512.5(GALNS):c.899-167A>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048483	NM_000512.5(GALNS):c.899-397_1003-1862del	GALNS	Deletion (splice acceptor variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048482	NM_000512.5(GALNS):c.899-1G>C	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic
Select item 1048481	NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)dup	GALNS	Duplication	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048480	NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)del	GALNS	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048479	NM_000512.5(GALNS):c.895C>T (p.Gln299Ter)	GALNS (Q114* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048478	NM_000512.5(GALNS):c.887C>T (p.Ala296Val)	GALNS (A111V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048477	NM_000512.5(GALNS):c.874del (p.Ala292fs)	GALNS (A107fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048476	NM_000512.5(GALNS):c.872C>A (p.Ala291Asp)	GALNS (A106D +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048475	NM_000512.5(GALNS):c.688T>G (p.Trp230Gly)	GALNS (W230G +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048474	NM_000512.5(GALNS):c.686A>C (p.Tyr229Ser)	GALNS (Y229S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048473	NM_000512.5(GALNS):c.680del (p.Phe227fs)	GALNS (F227fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048472	NM_000512.5(GALNS):c.676T>C (p.Phe226Leu)	GALNS (F226L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048471	NM_000512.5(GALNS):c.658C>T (p.Gln220Ter)	GALNS (Q220* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048470	NM_000512.5(GALNS):c.651_652insG (p.Lys218fs)	GALNS (K218fs +2 more)	Insertion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048469	NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	GALNS (F216S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1048468	NM_000512.5(GALNS):c.638C>T (p.Ala213Val)	GALNS (A213V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048467	NM_000512.5(GALNS):c.634-1G>T	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048466	NM_000512.5(GALNS):c.634-1G>A	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048465	NM_000512.5(GALNS):c.631C>T (p.Gln211Ter)	GALNS (Q211* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048464	NM_000512.5(GALNS):c.627C>G (p.Tyr209Ter)	GALNS (Y209* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048463	NM_000512.5(GALNS):c.467T>C (p.Phe156Ser)	GALNS (F156S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048462	NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)	GALNS (G155E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048461	NM_000512.5(GALNS):c.452C>G (p.Pro151Arg)	GALNS (P151R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048460	NM_000512.5(GALNS):c.451C>T (p.Pro151Ser)	GALNS (P151S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048459	NM_000512.5(GALNS):c.448C>T (p.His150Tyr)	GALNS (H150Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048458	NM_000512.5(GALNS):c.442C>T (p.Gln148Ter)	GALNS (Q148* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048457	NM_000512.5(GALNS):c.433C>T (p.His145Tyr)	GALNS (H145Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048456	NM_000512.5(GALNS):c.426T>A (p.His142Gln)	GALNS (H142Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048455	NM_000512.5(GALNS):c.425A>C (p.His142Pro)	GALNS (H142P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048454	NM_000512.5(GALNS):c.424C>A (p.His142Asn)	GALNS (H142N +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048453	NM_000512.5(GALNS):c.278T>A (p.Ile93Asn)	GALNS (I93N +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048452	NM_000512.5(GALNS):c.278T>C (p.Ile93Thr)	GALNS (I93T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048451	NM_000512.5(GALNS):c.274C>T (p.Pro92Ser)	GALNS (P92S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048450	NM_000512.5(GALNS):c.272T>C (p.Leu91Pro)	GALNS (L91P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048449	NM_000512.5(GALNS):c.268C>G (p.Arg90Gly)	GALNS (R90G +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048448	NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)	GALNS (G89* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048447	NM_000512.5(GALNS):c.263C>T (p.Thr88Ile)	GALNS (T88I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048446	NM_000512.5(GALNS):c.260T>C (p.Leu87Pro)	GALNS (L87P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048445	NM_000512.5(GALNS):c.257T>C (p.Leu86Pro)	GALNS (L86P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048444	NM_000512.5(GALNS):c.253G>A (p.Ala85Thr)	GALNS (A85T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048443	NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)	GALNS (A84E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048442	NM_000512.5(GALNS):c.245-2A>G	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048441	NM_000512.5(GALNS):c.1038C>A (p.Phe346Leu)	GALNS (F161L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048440	NM_000512.5(GALNS):c.1034T>C (p.Leu345Pro)	GALNS (L160P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048439	NM_000512.5(GALNS):c.1032C>G (p.Asp344Glu)	GALNS (D159E +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048438	NM_000512.5(GALNS):c.1030G>A (p.Asp344Asn)	GALNS (D159N +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048437	NM_000512.5(GALNS):c.1027A>T (p.Met343Leu)	GALNS (M158L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048436	NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)	GALNS (S156R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048435	NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)	GALNS (Q153* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048434	NM_000512.5(GALNS):c.1009del (p.His337fs)	GALNS (H152fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048433	NM_000512.5(GALNS):c.1003-2A>C	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048432	NM_000512.5(GALNS):c.1003-3C>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048431	NM_000512.5(GALNS):c.1002+307G>C	GALNS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1048430	NM_000512.5(GALNS):c.985C>A (p.His329Asn)	GALNS (H144N +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048429	NM_000512.5(GALNS):c.869G>A (p.Gly290Asp)	GALNS (G105D +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048428	NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)	GALNS (G105S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 1048427	NM_000512.5(GALNS):c.868G>C (p.Gly290Arg)	GALNS (G105R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048426	NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)	GALNS (N104S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048425	NM_000512.5(GALNS):c.865A>G (p.Asn289Asp)	GALNS (N104D +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GUncertain significance
Select item 1048424	NM_000512.5(GALNS):c.863A>G (p.Asp288Gly)	GALNS (D103G +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048423	NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)	GALNS (F100del +2 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1048422	NM_000512.5(GALNS):c.863del (p.Asp288fs)	GALNS (D103fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048421	NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del)	GALNS	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic
Select item 1048420	NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)	GALNS (L275P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048419	NM_000512.5(GALNS):c.812T>C (p.Leu271Pro)	GALNS (L271P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048418	NM_000512.5(GALNS):c.611A>C (p.Asn204Thr)	GALNS (N19T +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048417	NM_000512.5(GALNS):c.608C>T (p.Ala203Val)	GALNS (A18V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048416	NM_000512.5(GALNS):c.604del (p.Glu202fs)	GALNS (E17fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048415	NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)	GALNS (E193G +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048414	NM_000512.5(GALNS):c.572A>G (p.Tyr191Cys)	GALNS (Y191C +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048413	NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)	GALNS (Y191D +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048412	NM_000512.5(GALNS):c.567-1G>T	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048411	NM_000512.5(GALNS):c.567-3C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity

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