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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1266877	NM_152419.3(HGSNAT):c.119-164del	HGSNAT	Deletion (intron variant)	not provided	GBenign
Select item 1295024	NM_152419.3(HGSNAT):c.119-23del	HGSNAT	Deletion (intron variant)	not provided	GBenign
Select item 2156438	NM_152419.3(HGSNAT):c.119-12A>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1560351	NM_152419.3(HGSNAT):c.119-9T>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1567177	NM_152419.3(HGSNAT):c.119-5A>G	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1076551	NM_152419.3(HGSNAT):c.133dup (p.Arg45fs)	HGSNAT (R45fs)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2948880	NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)	HGSNAT (K43*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 1109404	NM_152419.3(HGSNAT):c.132A>G (p.Lys44=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2129661	NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)	HGSNAT (R45S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 1049840	NM_152419.3(HGSNAT):c.137A>T (p.His46Leu)	HGSNAT (H46L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2190096	NM_152419.3(HGSNAT):c.138T>C (p.His46=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1488063	NM_152419.3(HGSNAT):c.142G>A (p.Glu48Lys)	HGSNAT (E48K)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1137030	NM_152419.3(HGSNAT):c.144G>A (p.Glu48=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 855589	NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)	HGSNAT (L49M)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 941073	NM_152419.3(HGSNAT):c.150del (p.Met51fs)	HGSNAT (M51fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 837077	NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)	HGSNAT (D52N)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 984371	NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)	HGSNAT (Q53*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C	GLikely pathogenic
Select item 651853	NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)	HGSNAT (L55*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 2935703	NM_152419.3(HGSNAT):c.168A>T (p.Leu56=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1082587	NM_152419.3(HGSNAT):c.168A>G (p.Leu56=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2146545	NM_152419.3(HGSNAT):c.171C>T (p.Leu57=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1447819	NM_152419.3(HGSNAT):c.174C>G (p.Ile58Met)	HGSNAT (I58M)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2417915	NM_152419.3(HGSNAT):c.180T>C (p.Asn60=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1538553	NM_152419.3(HGSNAT):c.183A>G (p.Glu61=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1396077	NM_152419.3(HGSNAT):c.185T>C (p.Leu62Pro)	HGSNAT (L62P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2953305	NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 765578	NM_152419.3(HGSNAT):c.186T>C (p.Leu62=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1458996	NM_152419.3(HGSNAT):c.195C>T (p.Thr65=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 555958	NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer)	HGSNAT	Insertion (inframe_insertion +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 791713	NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1036521	NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 632856	NM_152419.3(HGSNAT):c.204C>T (p.Thr68=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 363139	NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)	HGSNAT (V69I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1119584	NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1981433	NM_152419.3(HGSNAT):c.218C>T (p.Ser73Phe)	HGSNAT (S73F)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 983600	NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter)	HGSNAT (E74*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C	GLikely pathogenic
Select item 970395	NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)	HGSNAT (H78D)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 939792	NM_152419.3(HGSNAT):c.234C>T (p.His78=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 30832	NM_152419.3(HGSNAT):c.234+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-C +4 more	GPathogenic
Select item 1990139	NM_152419.3(HGSNAT):c.234+5G>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 793287	NM_152419.3(HGSNAT):c.234+8T>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2935433	NM_152419.3(HGSNAT):c.234+10A>C	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1645579	NM_152419.3(HGSNAT):c.234+10A>T	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 363140	NM_152419.3(HGSNAT):c.234+14C>G	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +2 more	GConflicting classifications of pathogenicity
Select item 1621117	NM_152419.3(HGSNAT):c.234+17A>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1658846	NM_152419.3(HGSNAT):c.234+18C>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2947325	NM_152419.3(HGSNAT):c.234+20C>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939441	NM_152419.3(HGSNAT):c.234+20C>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1244027	NM_152419.3(HGSNAT):c.234+331C>T	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231369	NM_152419.3(HGSNAT):c.235-75G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2937317	NM_152419.3(HGSNAT):c.235-19G>A	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2936682	NM_152419.3(HGSNAT):c.235-19G>C	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2928245	NM_152419.3(HGSNAT):c.235-18T>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2949741	NM_152419.3(HGSNAT):c.235-16G>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1588948	NM_152419.3(HGSNAT):c.235-13C>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 548461	NM_152419.3(HGSNAT):c.235-9T>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 1620005	NM_152419.3(HGSNAT):c.235-4A>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 964234	NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)	HGSNAT (C79R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2152679	NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser)	HGSNAT (L80S)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1130354	NM_152419.3(HGSNAT):c.240G>A (p.Leu80=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2002352	NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)	HGSNAT (Q82*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 1130662	NM_152419.3(HGSNAT):c.249T>C (p.Val83=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2188800	NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile)	HGSNAT (V85I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 2932472	NM_152419.3(HGSNAT):c.255A>G (p.Val85=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1140974	NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GLikely benign
Select item 452146	NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)	HGSNAT (V87I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1492242	NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly)	HGSNAT (V87G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1649126	NM_152419.3(HGSNAT):c.261T>C (p.Val87=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1596011	NM_152419.3(HGSNAT):c.261T>A (p.Val87=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2172333	NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu)	HGSNAT (P88L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1649423	NM_152419.3(HGSNAT):c.264T>C (p.Pro88=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 983601	NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)	HGSNAT (Q89*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic/Likely pathogenic
Select item 911653	NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly)	HGSNAT (S90G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 930599	NM_152419.3(HGSNAT):c.272del (p.Pro91fs)	HGSNAT (P91fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 73	GLikely pathogenic
Select item 1129394	NM_152419.3(HGSNAT):c.273A>G (p.Pro91=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 363141	NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)	HGSNAT (A93S)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 1499803	NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val)	HGSNAT (A93V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1063655	NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)	HGSNAT (A93G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1417948	NM_152419.3(HGSNAT):c.279A>G (p.Ala93=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 792443	NM_152419.3(HGSNAT):c.279A>C (p.Ala93=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1138360	NM_152419.3(HGSNAT):c.282G>A (p.Gly94=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 983602	NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter)	HGSNAT (K95*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C	GLikely pathogenic
Select item 967778	NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)	HGSNAT (K95R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 956542	NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)	HGSNAT (K95T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 726774	NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1134433	NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1621355	NM_152419.3(HGSNAT):c.291T>C (p.Ser97=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1078741	NM_152419.3(HGSNAT):c.294T>C (p.Ala98=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1532134	NM_152419.3(HGSNAT):c.300T>C (p.Ala100=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2140638	NM_152419.3(HGSNAT):c.302C>T (p.Ala101Val)	HGSNAT (A101V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1100456	NM_152419.3(HGSNAT):c.306T>C (p.Ser102=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2592134	NM_152419.3(HGSNAT):c.311G>C (p.Ser104Thr)	HGSNAT (S104T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1523938	NM_152419.3(HGSNAT):c.311G>A (p.Ser104Asn)	HGSNAT (S104N)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1136408	NM_152419.3(HGSNAT):c.315C>T (p.Thr105=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 962869	NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)	HGSNAT (Q106R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 735617	NM_152419.3(HGSNAT):c.321C>T (p.His107=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1007998	NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)	HGSNAT (G108R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 850055	NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)	HGSNAT (S109Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 975712	NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val)	HGSNAT (I110V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1549969	NM_152419.3(HGSNAT):c.331C>T (p.Leu111=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign

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