ClinVar for Gene (Select 3703) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323444	NM_152713.5(STT3A):c.68T>C (p.Leu23Pro)	STT3A (L23P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3323443	NM_152713.5(STT3A):c.1139G>A (p.Ser380Asn)	STT3A (S288N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171694	NM_152713.5(STT3A):c.280A>G (p.Ile94Val)	STT3A (I2V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171692	NM_152713.5(STT3A):c.1966C>T (p.Arg656Cys)	STT3A (R564C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171691	NM_152713.5(STT3A):c.191G>T (p.Gly64Val)	STT3A (G64V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3171689	NM_152713.5(STT3A):c.1568T>C (p.Met523Thr)	STT3A (M431T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171688	NM_152713.5(STT3A):c.1109T>C (p.Met370Thr)	STT3A (M278T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3065465	NM_152713.5(STT3A):c.544A>G (p.Met182Val)	STT3A (M182V +1 more)	Single nucleotide variant (missense variant)	STT3A-congenital disorder of glycosylation	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3049142	NM_152713.5(STT3A):c.672C>T (p.Leu224=)	STT3A	Single nucleotide variant (synonymous variant)	STT3A-related disorder	GLikely benign
Select item 3019551	NM_152713.5(STT3A):c.105G>A (p.Leu35=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000700	NM_152713.5(STT3A):c.961+4G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2907547	NM_152713.5(STT3A):c.1791T>C (p.Leu597=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884449	NM_152713.5(STT3A):c.1215T>C (p.Arg405=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883068	NM_152713.5(STT3A):c.1095G>A (p.Gln365=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865095	NM_152713.5(STT3A):c.1723G>A (p.Val575Ile)	STT3A (V483I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846665	NM_152713.5(STT3A):c.860G>T (p.Arg287Leu)	STT3A (R195L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835690	NM_152713.5(STT3A):c.1210-19T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805501	NM_152713.5(STT3A):c.1671+12G>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776714	NM_152713.5(STT3A):c.2026G>A (p.Asp676Asn)	STT3A (D584N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742355	NM_152713.5(STT3A):c.1101C>T (p.Leu367=)	STT3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2691772	NM_152713.5(STT3A):c.1631A>G (p.Asn544Ser)	STT3A (N452S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685426	GRCh37/hg19 11q24.2(chr11:125208533-125519800)x1	CHEK1, EI24 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2664988	NM_152713.5(STT3A):c.1193A>G (p.Tyr398Cys)	STT3A (Y306C +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance
Select item 2617773	NM_152713.5(STT3A):c.706A>G (p.Ile236Val)	STT3A (I144V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582505	NM_152713.5(STT3A):c.1841A>G (p.Glu614Gly)	STT3A (E522G +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance
Select item 2541234	NM_152713.5(STT3A):c.888A>C (p.Glu296Asp)	STT3A (E204D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531309	NM_152713.5(STT3A):c.860G>A (p.Arg287His)	STT3A (R195H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2489838	NM_152713.5(STT3A):c.388G>A (p.Val130Ile)	STT3A (V130I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482966	NM_152713.5(STT3A):c.448A>G (p.Met150Val)	STT3A (M58V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481235	NM_152713.5(STT3A):c.691C>T (p.Arg231Cys)	STT3A (R139C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478182	NM_152713.5(STT3A):c.1679C>T (p.Ala560Val)	STT3A (A468V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468361	NM_152713.5(STT3A):c.164G>A (p.Arg55Gln)	STT3A (R55Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454604	NM_152713.5(STT3A):c.1559C>T (p.Ala520Val)	STT3A (A428V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431752	NM_152713.5(STT3A):c.1213C>A (p.Arg405Ser)	STT3A (R313S +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 2415505	NM_152713.5(STT3A):c.149+19T>G	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2374217	NM_152713.5(STT3A):c.701A>C (p.His234Pro)	STT3A (H142P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314634	NM_152713.5(STT3A):c.1926G>A (p.Met642Ile)	STT3A (M642I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303539	NM_152713.5(STT3A):c.244C>G (p.Arg82Gly)	STT3A (R82G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278892	NM_152713.5(STT3A):c.1071G>T (p.Trp357Cys)	STT3A (W357C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274670	NM_152713.5(STT3A):c.1352C>T (p.Pro451Leu)	STT3A (P359L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270419	NM_152713.5(STT3A):c.1286A>C (p.Tyr429Ser)	STT3A (Y337S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265151	NM_152713.5(STT3A):c.65T>C (p.Ile22Thr)	STT3A (I22T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254894	NM_152713.5(STT3A):c.962G>C (p.Gly321Ala)	STT3A (G229A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230974	NM_152713.5(STT3A):c.1951T>G (p.Tyr651Asp)	STT3A (Y559D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208301	NM_152713.5(STT3A):c.859C>T (p.Arg287Cys)	STT3A (R287C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182220	NM_152713.5(STT3A):c.1537C>T (p.Arg513Cys)	STT3A (R513C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164897	NM_152713.5(STT3A):c.1815C>G (p.Ser605Arg)	STT3A (S605R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098371	NM_152713.5(STT3A):c.271+19T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091324	NM_152713.5(STT3A):c.1458G>A (p.Pro486=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085149	NM_152713.5(STT3A):c.1044T>C (p.Ser348=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009724	NM_152713.5(STT3A):c.632G>A (p.Gly211Asp)	STT3A (G119D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974922	NM_152713.5(STT3A):c.1720G>A (p.Asp574Asn)	STT3A (D482N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905469	NM_152713.5(STT3A):c.967A>G (p.Ile323Val)	STT3A (I231V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895409	NM_152713.5(STT3A):c.251T>C (p.Ile84Thr)	STT3A (I84T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1707394	NM_152713.5(STT3A):c.616-203T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706696	NM_152713.5(STT3A):c.509-169G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703171	NM_152713.5(STT3A):c.961G>A (p.Gly321Arg)	STT3A (G229R +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance
Select item 1667306	NM_152713.5(STT3A):c.961+19T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654129	NM_152713.5(STT3A):c.387C>T (p.Ile129=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613096	NM_152713.5(STT3A):c.795A>G (p.Ser265=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609956	NM_152713.5(STT3A):c.1125C>T (p.Leu375=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572490	NM_152713.5(STT3A):c.846T>C (p.Phe282=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571825	NM_152713.5(STT3A):c.1365+11A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562033	NM_152713.5(STT3A):c.271+29dup	STT3A	Duplication (intron variant)	not provided	GBenign
Select item 1514581	NM_152713.5(STT3A):c.898C>T (p.Arg300Trp)	STT3A (R208W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513589	NM_152713.5(STT3A):c.701A>G (p.His234Arg)	STT3A (H142R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493345	NM_152713.5(STT3A):c.1684A>C (p.Thr562Pro)	STT3A (T470P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1454805	NM_152713.5(STT3A):c.149+16T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1434267	NM_152713.5(STT3A):c.184G>A (p.Glu62Lys)	STT3A (E62K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414073	NM_152713.5(STT3A):c.615+6T>C	STT3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1385454	NM_152713.5(STT3A):c.2090T>C (p.Leu697Pro)	STT3A (L697P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	ACRV1, CCDC15 +56 more	Duplication	Holoprosencephaly 11	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1334782	NM_152713.5(STT3A):c.985C>T (p.Arg329Cys)	STT3A (R329C +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance
Select item 1334781	NM_152713.5(STT3A):c.1214G>A (p.Arg405His)	STT3A (R405H +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1334780	NM_152713.5(STT3A):c.1213C>T (p.Arg405Cys)	STT3A (R405C +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GPathogenic
Select item 1334779	NM_152713.5(STT3A):c.479G>A (p.Arg160Gln)	STT3A (R160Q +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1334778	NM_152713.5(STT3A):c.137A>G (p.His46Arg)	STT3A (H46R)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1334777	NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser)	STT3A (Y530S +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance
Select item 1334776	NM_152713.5(STT3A):c.1637C>T (p.Thr546Ile)	STT3A (T546I +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance
Select item 1329772	NM_152713.5(STT3A):c.1365+37TG[6]	STT3A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1329747	NC_000011.10:g.125592720T>G	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1326169	NM_152713.5(STT3A):c.1117+145T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326129	NM_152713.5(STT3A):c.1118-62T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318192	NC_000011.10:g.125592721T>A	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1318087	NM_152713.5(STT3A):c.271+30A>T	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317971	NC_000011.10:g.125592739A>G	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1317672	NM_152713.5(STT3A):c.*81del	STT3A	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1316682	NM_152713.5(STT3A):c.509-215T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316275	NM_152713.5(STT3A):c.781-109A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316158	NM_152713.5(STT3A):c.271+39dup	STT3A	Duplication (intron variant)	not provided	GLikely benign

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