C0086647[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2773	NM_024312.5(GNPTAB):c.3335+6T>G	GNPTAB	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 38417	NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)	GNPTAB (S685fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2774	NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)	GNPTAB (K4Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 551518	NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter)	SGSH (Q496*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 552627	NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del)	SGSH (E489del)	Microsatellite (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 558220	NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs)	SGSH (D484fs)	Insertion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 552591	NM_000199.5(SGSH):c.1429del (p.Asp477fs)	SGSH (D477fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 552432	NM_000199.5(SGSH):c.1416G>C (p.Gln472His)	SGSH (Q472H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 556145	NM_000199.5(SGSH):c.1380del (p.Leu461fs)	SGSH (L461fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 5114	NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	SGSH (E447K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 550048	NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)	SGSH (W436*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 5109	NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	SGSH (R433Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 551014	NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)	SGSH (R433W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558638	NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del)	SGSH (Y432del)	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 287037	NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)	SGSH	Deletion (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 551410	NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs)	SGSH (T416fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 555736	NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)	SGSH (Q409*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 550465	NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)	SGSH (N389K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550252	NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)	SGSH (N389S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 92608	NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)	SGSH	Insertion (inframe_insertion +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 279891	NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)	SGSH (Q380R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 550040	NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)	SGSH (Q380*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 5117	NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	SGSH (E369K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 555684	NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg)	SGSH (S364R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 556825	NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del)	SGSH	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325835	NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)	SGSH (E355K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 556217	NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)	SGSH (S347F)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 198694	NM_000199.5(SGSH):c.1027dup (p.Leu343fs)	SGSH (L343fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A +3 more	GPathogenic
Select item 546107	NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)	SGSH (T321A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558385	NM_000199.5(SGSH):c.937_939dup (p.Val313dup)	SGSH	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 555654	NM_000199.5(SGSH):c.932C>A (p.Ala311Asp)	SGSH (A311D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 555619	NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)	SGSH (R304L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 30459	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH (S298P)	Single nucleotide variant (missense variant +1 more)	Sanfilippo syndrome +2 more	GPathogenic
Select item 265258	NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	SGSH (P293S)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 553454	NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)	SGSH (D273N)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 554400	NM_000199.5(SGSH):c.726C>T (p.Thr242=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 553004	NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	SGSH (D235N)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 370732	NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	SGSH (R233*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 235357	NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	SGSH (F225L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554868	NM_000199.5(SGSH):c.664-1G>T	SGSH	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 255517	NM_000199.5(SGSH):c.664-36T>C	SGSH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 280083	NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	SGSH (W210*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5118	NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	SGSH (R206P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 557068	NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)	SGSH (C194*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 372781	NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)	SGSH (G191R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 5113	NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	SGSH (R150Q)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 552534	NM_000199.5(SGSH):c.437T>C (p.Leu146Pro)	SGSH (L146P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 552173	NM_000199.5(SGSH):c.376dup (p.Val126fs)	SGSH (V126fs)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 557730	NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del)	SGSH (K124del)	Microsatellite (inframe_deletion +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 518269	NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	SGSH (G122R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 553818	NM_000199.5(SGSH):c.356-1G>A	SGSH	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 550542	NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)	SGSH (G90R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 550504	NM_000199.5(SGSH):c.221G>A (p.Arg74His)	SGSH (R74H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 551570	NM_000199.5(SGSH):c.216del (p.Ser73fs)	SGSH (S73fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 551871	NM_000199.5(SGSH):c.175C>T (p.Leu59Phe)	SGSH (L59F)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 429525	NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)	SGSH (S57R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 381685	NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)	SGSH (A44T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 551665	NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser)	SGSH (Y40S)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 92613	NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)	SGSH (G33R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 557899	NM_000199.5(SGSH):c.54C>A (p.Cys18Ter)	SGSH (C18*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 554685	NM_000199.5(SGSH):c.48_50dup (p.Leu17dup)	SGSH	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 557819	NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer)	SGSH	Deletion (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 488839	NM_000199.5(SGSH):c.2T>C (p.Met1Thr)	LOC130061900, SGSH (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 556909	NM_000199.5(SGSH):c.-12GCC[5] (p.Met1_Ser2insAla)	LOC130061900, SGSH	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 552260	NM_000199.5(SGSH):c.1A>G (p.Met1Val)	LOC130061900, SGSH (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 65