Related gene-specific medical variations for Gene (Select 138050) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284208	NM_152419.3(HGSNAT):c.86C>G (p.Ser29Trp)	HGSNAT, LOC130000316 (S29W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245541	NC_000008.10:g.(?_43033197)_(43033397_?)dup	HGSNAT	Duplication	Retinitis pigmentosa 73 +1 more	GLikely pathogenic
Select item 3245540	NC_000008.10:g.(?_43025708)_(43028906_?)del	HGSNAT	Deletion	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 3245539	NC_000008.10:g.(?_43013698)_(43014207_?)del	HGSNAT	Deletion	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 3245538	NC_000008.10:g.(?_43052071)_(43054712_?)del	HGSNAT	Deletion	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 3245536	NC_000008.10:g.(?_43027433)_(43027549_?)del	HGSNAT	Deletion	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 2952456	NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2949651	NM_152419.3(HGSNAT):c.118+18A>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2946228	NM_152419.3(HGSNAT):c.118+7G>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2945293	NM_152419.3(HGSNAT):c.118+13C>A	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2944721	NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)	HGSNAT, LOC130000316 (P25fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 2942731	NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)	LOC130000316, HGSNAT (S29*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 2941399	NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +2 more	GConflicting classifications of pathogenicity
Select item 2940264	NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2940052	NM_152419.3(HGSNAT):c.118+12C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2937059	NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2936961	NM_152419.3(HGSNAT):c.118+13C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2936850	NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2936383	NM_152419.3(HGSNAT):c.118+19C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2935395	NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2935389	NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2932322	NM_152419.3(HGSNAT):c.118+11A>G	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2928502	NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2927811	NM_152419.3(HGSNAT):c.118+11A>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2922144	NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2921372	NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2504228	NM_152419.3(HGSNAT):c.20C>T (p.Ala7Val)	HGSNAT, LOC130000316 (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419913	NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)	HGSNAT, LOC130000316 (A10P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2241915	NM_152419.3(HGSNAT):c.-8CGGCGGGCATGAGCGGG[3] (p.Ala4delinsArgArgAlaTer)	HGSNAT, LOC130000316	Microsatellite (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2172693	NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)	HGSNAT, LOC130000316 (L22V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2170916	NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)	HGSNAT, LOC130000316 (G3A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2155767	NM_152419.3(HGSNAT):c.118+18A>G	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2153513	NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2145258	NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2139887	NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)	HGSNAT, LOC130000316 (A4P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GBenign
Select item 2094140	NM_152419.3(HGSNAT):c.118+16C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2093506	NM_152419.3(HGSNAT):c.118+9A>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2071762	NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)	HGSNAT, LOC130000316 (G5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2040401	NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2031937	NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2007566	NM_152419.3(HGSNAT):c.10del (p.Ala4fs)	HGSNAT, LOC130000316 (A4fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 1986811	NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1980619	NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1978669	NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)	HGSNAT, LOC130000316 (S2R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 1975883	NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1975795	NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1971818	NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)	HGSNAT, LOC130000316 (L18V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1933261	NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)	HGSNAT, LOC130000316 (D32E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1921573	NM_152419.3(HGSNAT):c.118+13C>G	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1706718	NM_152419.3(HGSNAT):c.118+69C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706252	NM_152419.3(HGSNAT):c.118+221G>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665533	NM_152419.3(HGSNAT):c.118+12C>G	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1663424	NM_152419.3(HGSNAT):c.51G>A (p.Val17=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1660331	NM_152419.3(HGSNAT):c.118+20C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1660267	NM_152419.3(HGSNAT):c.45G>C (p.Ala15=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1658426	NM_152419.3(HGSNAT):c.21G>A (p.Ala7=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1642889	NM_152419.3(HGSNAT):c.118+10C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1633644	NM_152419.3(HGSNAT):c.64C>T (p.Leu22=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1619533	NM_152419.3(HGSNAT):c.118+16C>G	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1615883	NM_152419.3(HGSNAT):c.99C>A (p.Ala33=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1569812	NM_152419.3(HGSNAT):c.118+8C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1557892	NM_152419.3(HGSNAT):c.118+20C>G	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1556810	NM_152419.3(HGSNAT):c.118+17T>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1552858	NM_152419.3(HGSNAT):c.118+7G>A	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1550698	NM_152419.3(HGSNAT):c.27C>A (p.Ala9=)	LOC130000316, HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1541060	NM_152419.3(HGSNAT):c.12G>C (p.Ala4=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1540562	NM_152419.3(HGSNAT):c.67C>T (p.Leu23=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1534834	NM_152419.3(HGSNAT):c.6C>T (p.Ser2=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1529464	NM_152419.3(HGSNAT):c.37C>T (p.Leu13=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1492894	NM_152419.3(HGSNAT):c.118+1G>A	HGSNAT, LOC130000316	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely pathogenic
Select item 1485684	NM_152419.3(HGSNAT):c.118+2T>C	HGSNAT, LOC130000316	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 73 +1 more	GLikely pathogenic
Select item 1474682	NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala)	HGSNAT, LOC130000316 (G30A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1464819	NM_152419.3(HGSNAT):c.117A>C (p.Arg39=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1430511	NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg)	HGSNAT, LOC130000316 (P37R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1413568	NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)	HGSNAT, LOC130000316 (S28P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1412507	NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs)	HGSNAT, LOC130000316 (Q34fs)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 1396246	NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg)	HGSNAT, LOC130000316 (P25R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1387849	NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val)	HGSNAT, LOC130000316 (A14V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1366495	NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del)	HGSNAT, LOC130000316	Deletion (inframe_deletion +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1357367	NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu)	HGSNAT, LOC130000316 (A15L)	Indel (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1324531	NM_152419.3(HGSNAT):c.90dup (p.Arg31fs)	HGSNAT, LOC130000316 (R31fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1323056	NM_152419.3(HGSNAT):c.1542+2T>C	HGSNAT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1257333	NM_152419.3(HGSNAT):c.118+54C>T	LOC130000316, HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240829	NM_152419.3(HGSNAT):c.118+333C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201110	NM_152419.3(HGSNAT):c.118+32G>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1161787	NM_152419.3(HGSNAT):c.118+8C>G	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1159194	NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1146246	NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1143112	NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1132343	NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1113457	NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1112521	NM_152419.3(HGSNAT):c.118+10C>A	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1107412	NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1103401	NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GLikely benign
Select item 1097873	NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1092086	NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1090177	NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1077433	NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1046706	NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)	HGSNAT, LOC130000316 (A33V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1040702	NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)	HGSNAT, LOC130000316 (G3R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance

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