C0086651[trait identifier] AND "Laboratory of Diagnosis and Therapy of - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048365	NC_000016.10:g.88770428_88832724del	CDT1, LOC126862447 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048364	NC_000016.10:g.88779266_88827672del	LOC130059756, LOC130059757 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048367	NC_000016.10:g.(88810557_88811549)_(88841972_88842705)del	APRT, GALNS +2 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048368	NC_000016.10:g.(?_88813734)_(88841972_88842705)del	GALNS, LOC126862447	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048366	NC_000016.10:g.(?_88813734)_(88856758_?)del	GALNS, LOC126862447 +4 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 321187	NM_000512.5(GALNS):c.*3C>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GConflicting classifications of pathogenicity
Select item 1048363	NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp)	GALNS	Single nucleotide variant (stop lost)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048362	NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln)	GALNS	Single nucleotide variant (stop lost)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048361	NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)	GALNS	Single nucleotide variant (stop lost)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1048360	NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter)	GALNS (W335* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 93171	NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)	GALNS (W520* +2 more)	Single nucleotide variant (nonsense)	Morquio syndrome +2 more	GPathogenic/Likely pathogenic
Select item 93170	NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)	GALNS (W520R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048359	NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro)	GALNS (L323P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 93169	NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)	GALNS (C507F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1048345	NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)	GALNS (C322R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048344	NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs)	GALNS (K318fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048343	NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)	GALNS (C316S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048342	NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys)	GALNS (G315C +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048341	NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)	GALNS (G315S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048340	NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu)	GALNS (P314L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 803279	NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)	GALNS (P498L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048339	NM_000512.5(GALNS):c.1492C>T (p.Pro498Ser)	GALNS (P313S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 265170	NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)	GALNS (N495K +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048338	NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)	GALNS (N310Y +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048337	NM_000512.5(GALNS):c.1483-1G>A	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048336	NM_000512.5(GALNS):c.1483-1G>C	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048335	NM_000512.5(GALNS):c.1483-2A>G	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048334	NM_000512.5(GALNS):c.1483-15A>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048333	NM_000512.5(GALNS):c.1482+5G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048332	NM_000512.5(GALNS):c.1482+1G>A	GALNS, LOC126862447	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048245	NM_000512.5(GALNS):c.1480A>G (p.Met494Val)	GALNS, LOC126862447 (M309V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 800974	NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	GALNS, LOC126862447 (A492T +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 194178	NM_000512.5(GALNS):c.1462G>A (p.Val488Met)	LOC126862447, GALNS (V488M +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 1048244	NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys)	GALNS, LOC126862447 (N302K +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048243	NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile)	GALNS, LOC126862447 (N302I +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 701	NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)	GALNS, LOC126862447 (N487S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 982085	NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)	GALNS, LOC126862447	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048242	NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)	GALNS, LOC126862447 (P299L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GUncertain significance
Select item 1048241	NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)	GALNS, LOC126862447 (P299S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048240	NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)	GALNS, LOC126862447 (Q298* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 284192	NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)	GALNS, LOC126862447 (V480F +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1048239	NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro)	GALNS, LOC126862447 (Q291P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048238	NM_000512.5(GALNS):c.1423C>A (p.His475Asn)	GALNS, LOC126862447 (H290N +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048237	NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter)	GALNS, LOC126862447 (Q289* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 704	NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)	GALNS, LOC126862447 (Q473* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048236	NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro)	GALNS, LOC126862447 (S285P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
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 1048378	NM_000512.5(GALNS):c.[1140-730_1365-1530del;121-2779_567-248del]	GALNS	Deletion (splice acceptor variant +2 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 645753	NM_000512.5(GALNS):c.1364+1G>A	GALNS	Single nucleotide variant (splice donor variant)	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 93166	NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)	GALNS (F452I +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 1048358	NM_000512.5(GALNS):c.1261G>A (p.Gly421Arg)	GALNS (G236R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048357	NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	GALNS (P235R +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1048356	NM_000512.5(GALNS):c.1259del (p.Pro420fs)	GALNS (P235fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048355	NM_000512.5(GALNS):c.1258C>T (p.Pro420Ser)	GALNS (P235S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321191	NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)	GALNS (I416T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1048354	NM_000512.5(GALNS):c.1244G>T (p.Gly415Val)	GALNS (G230V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048353	NM_000512.5(GALNS):c.1243-1G>C	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048352	NM_000512.5(GALNS):c.1243-1G>A	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048350	NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)	GALNS (Q229* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048349	NM_000512.5(GALNS):c.1226G>C (p.Trp409Ser)	GALNS (W224S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048348	NM_000512.5(GALNS):c.1221C>G (p.Asn407Lys)	GALNS (N222K +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 634437	NM_000512.5(GALNS):c.1219A>C (p.Asn407His)	GALNS (N407H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 566964	NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1])	GALNS	Microsatellite (inframe_deletion)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048347	NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)	GALNS (W220* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048346	NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter)	GALNS (W220* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048331	NM_000512.5(GALNS):c.1209_1210delinsTT (p.Trp403_Thr404delinsCysSer)	GALNS	Indel (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048330	NM_000512.5(GALNS):c.1201C>T (p.His401Tyr)	GALNS (H216Y +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048329	NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)	GALNS (K214R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048328	NM_000512.5(GALNS):c.1196del (p.Lys399fs)	GALNS (K214fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048327	NM_000512.5(GALNS):c.1192C>G (p.His398Asp)	GALNS (H213D +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 849188	NM_000512.5(GALNS):c.1192del (p.His398fs)	GALNS (H213fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048326	NM_000512.5(GALNS):c.1188del (p.Gln397fs)	GALNS (Q212fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048325	NM_000512.5(GALNS):c.1184T>C (p.Leu395Pro)	GALNS (L210P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048324	NM_000512.5(GALNS):c.1183C>G (p.Leu395Val)	GALNS (L210V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048323	NM_000512.5(GALNS):c.1180A>C (p.Thr394Pro)	GALNS (T209P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048322	NM_000512.5(GALNS):c.1177_1178insT (p.Ala393fs)	GALNS (A208fs +2 more)	Insertion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 592181	NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)	GALNS (A393del +2 more)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93165	NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)	GALNS (A393S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 93163	NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)	GALNS (A392V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 93162	NM_000512.5(GALNS):c.1171A>G (p.Met391Val)	GALNS (M391V +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +2 more	GPathogenic
Select item 1048235	NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)	GALNS (L205P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048321	NM_000512.5(GALNS):c.1168del (p.Thr389_Leu390insTer)	GALNS	Deletion (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 528322	NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)	GALNS (D388E +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048234	NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)	GALNS (D203N +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1048233	NM_000512.5(GALNS):c.1159G>A (p.Gly387Ser)	GALNS (G202S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048232	NM_000512.5(GALNS):c.1157G>A (p.Arg386His)	GALNS (R201H +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1048231	NM_000512.5(GALNS):c.1156C>A (p.Arg386Ser)	GALNS (R201S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 700	NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	GALNS (R386C +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +2 more	GConflicting classifications of pathogenicity

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