SGSH[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 325809	NM_000199.5(SGSH):c.*1098G>A	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325810	NM_000199.5(SGSH):c.*1078A>G	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325811	NM_000199.5(SGSH):c.*1008C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 891338	NM_000199.5(SGSH):c.*994G>A	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325812	NM_000199.5(SGSH):c.*978C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 891339	NM_000199.5(SGSH):c.*891A>G	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 892528	NM_000199.5(SGSH):c.*890G>A	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325813	NM_000199.5(SGSH):c.*855T>C	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 325814	NM_000199.5(SGSH):c.*848C>G	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 325815	NM_000199.5(SGSH):c.*840A>G	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GBenign
Select item 892529	NM_000199.5(SGSH):c.*834A>G	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325816	NM_000199.5(SGSH):c.*833A>G	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GBenign
Select item 889169	NM_000199.5(SGSH):c.*712G>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 889170	NM_000199.5(SGSH):c.*657C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 889171	NM_000199.5(SGSH):c.*506C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325817	NM_000199.5(SGSH):c.*501C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325818	NM_000199.5(SGSH):c.*499C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 889172	NM_000199.5(SGSH):c.*471G>A	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 889173	NM_000199.5(SGSH):c.*459C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325819	NM_000199.5(SGSH):c.*452G>A	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 889847	NM_000199.5(SGSH):c.*415A>G	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GBenign
Select item 889848	NM_000199.5(SGSH):c.*378G>A	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325820	NM_000199.5(SGSH):c.*369C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325821	NM_000199.5(SGSH):c.*315C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GBenign
Select item 325822	NM_000199.5(SGSH):c.*309G>A	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 889849	NM_000199.5(SGSH):c.*232T>C	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325823	NM_000199.5(SGSH):c.*201A>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 325824	NM_000199.5(SGSH):c.*126G>A	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 891398	NM_000199.5(SGSH):c.*95A>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 891399	NM_000199.5(SGSH):c.*93A>G	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325825	NM_000199.5(SGSH):c.*69C>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2856772	NM_000199.5(SGSH):c.1503G>A (p.Glu501=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1092227	NM_000199.5(SGSH):c.1500T>C (p.Asn500=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1022539	NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)	SGSH (N500S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2089541	NM_000199.5(SGSH):c.1491C>T (p.Pro497=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 873499	NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)	SGSH (P497L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
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 3161053	NM_000199.5(SGSH):c.1484G>C (p.Cys495Ser)	SGSH (C495S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1446413	NM_000199.5(SGSH):c.1481A>G (p.Gln494Arg)	SGSH (Q494R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1618514	NM_000199.5(SGSH):c.1476T>C (p.Ser492=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2156876	NM_000199.5(SGSH):c.1474T>C (p.Ser492Pro)	SGSH (S492P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2154337	NM_000199.5(SGSH):c.1473C>T (p.Leu491=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1101197	NM_000199.5(SGSH):c.1473C>G (p.Leu491=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2275095	NM_000199.5(SGSH):c.1472T>G (p.Leu491Arg)	SGSH (L491R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2762401	NM_000199.5(SGSH):c.1470G>A (p.Lys490=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1094882	NM_000199.5(SGSH):c.1467G>A (p.Glu489=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
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 325826	NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)	SGSH (E488K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 2834985	NM_000199.5(SGSH):c.1458C>A (p.Val486=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1133292	NM_000199.5(SGSH):c.1458C>T (p.Val486=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1447423	NM_000199.5(SGSH):c.1456G>C (p.Val486Leu)	SGSH (V486L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 569858	NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)	SGSH (V486I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 1805703	NM_000199.5(SGSH):c.1455del (p.Val486fs)	SGSH (V486fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 863613	NM_000199.5(SGSH):c.1455C>T (p.Gly485=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 1410625	NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser)	SGSH (G485S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 795011	NM_000199.5(SGSH):c.1452C>T (p.Asp484=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2142885	NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)	SGSH (D484N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 761534	NM_000199.5(SGSH):c.1449C>T (p.Pro483=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 801413	NM_000199.5(SGSH):c.1448C>T (p.Pro483Leu)	SGSH (P483L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 728298	NM_000199.5(SGSH):c.1446C>T (p.Ala482=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
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 1370564	NM_000199.5(SGSH):c.1445C>T (p.Ala482Val)	SGSH (A482V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1513800	NM_000199.5(SGSH):c.1444G>A (p.Ala482Thr)	SGSH (A482T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 891400	NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)	SGSH (A482S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 739811	NM_000199.5(SGSH):c.1443C>T (p.Cys481=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2002545	NM_000199.5(SGSH):c.1440G>T (p.Val480=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1152315	NM_000199.5(SGSH):c.1440G>A (p.Val480=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1374686	NM_000199.5(SGSH):c.1438G>T (p.Val480Leu)	SGSH (V480L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2823833	NM_000199.5(SGSH):c.1434C>A (p.Pro478=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2008204	NM_000199.5(SGSH):c.1434C>T (p.Pro478=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2757673	NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)	SGSH (D477E)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2035618	NM_000199.5(SGSH):c.1431C>T (p.Asp477=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
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 421394	NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn)	SGSH (D477N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GLikely pathogenic
Select item 722971	NM_000199.5(SGSH):c.1428C>T (p.His476=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GBenign
Select item 1454739	NM_000199.5(SGSH):c.1426del (p.His476fs)	SGSH (H476fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 2177344	NM_000199.5(SGSH):c.1425C>G (p.Thr475=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2074357	NM_000199.5(SGSH):c.1425C>A (p.Thr475=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1410905	NM_000199.5(SGSH):c.1424C>G (p.Thr475Ser)	SGSH (T475S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2087505	NM_000199.5(SGSH):c.1422G>A (p.Glu474=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 958221	NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)	SGSH (W473C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2752377	NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)	SGSH (W473*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 2754541	NM_000199.5(SGSH):c.1417del (p.Trp473fs)	SGSH (W473fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
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 1075946	NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)	SGSH (W471*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 1111543	NM_000199.5(SGSH):c.1410G>A (p.Lys470=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1567025	NM_000199.5(SGSH):c.1404G>A (p.Leu468=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1000753	NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)	SGSH (L468P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 3240458	NM_000199.5(SGSH):c.1401del (p.Gln467fs)	SGSH (Q467fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2786570	NM_000199.5(SGSH):c.1395G>A (p.Arg465=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1129317	NM_000199.5(SGSH):c.1395G>C (p.Arg465=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2068026	NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)	SGSH (R465Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 325827	NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp)	SGSH (R465W)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1154758	NM_000199.5(SGSH):c.1386G>A (p.Glu462=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1082409	NM_000199.5(SGSH):c.1383G>A (p.Leu461=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1132388	NM_000199.5(SGSH):c.1380T>A (p.Leu460=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
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 619124	NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)	SGSH (Q459*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 2897531	NM_000199.5(SGSH):c.1374T>C (p.Ala458=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 992152	NM_000199.5(SGSH):c.1371T>C (p.Phe457=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GLikely benign

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