ClinVar for Gene (Select 268) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115726	NM_000479.5(AMH):c.995A>G (p.Asp332Gly)	AMH (D332G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115708	NM_000479.5(AMH):c.803C>T (p.Thr268Ile)	AMH (T268I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115689	NM_000479.5(AMH):c.643A>G (p.Thr215Ala)	AMH (T215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115659	NM_000479.5(AMH):c.340T>C (p.Ser114Pro)	AMH (S114P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115649	NM_000479.5(AMH):c.280C>T (p.Pro94Ser)	AMH (P94S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115627	NM_000479.5(AMH):c.1322G>T (p.Arg441Leu)	AMH (R441L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065466	NM_000479.5(AMH):c.1683A>T (p.Ter561Cys)	AMH	Single nucleotide variant (stop lost)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062390	GRCh37/hg19 19p13.3(chr19:2123255-2258285)x3	DOT1L, JSRP1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3035111	NM_000479.5(AMH):c.849G>A (p.Ser283=)	AMH	Single nucleotide variant (synonymous variant)	AMH-related disorder	GLikely benign
Select item 3025681	NM_000479.5(AMH):c.23G>C (p.Ser8Thr)	AMH, LOC108783649 (S8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025536	NM_000479.5(AMH):c.227T>C (p.Leu76Pro)	AMH (L76P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023027	NM_000479.5(AMH):c.180C>T (p.Gly60=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997302	NM_000479.5(AMH):c.438G>A (p.Leu146=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994858	NM_000479.5(AMH):c.870C>T (p.Phe290=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979190	NM_000479.5(AMH):c.825-14A>T	AMH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915889	NM_000479.5(AMH):c.825-10C>T	AMH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895875	NM_000479.5(AMH):c.399A>G (p.Leu133=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878590	NM_000479.5(AMH):c.831C>G (p.Ser277=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736758	NM_000479.5(AMH):c.500A>G (p.Tyr167Cys)	AMH (Y167C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2722851	NM_000479.5(AMH):c.1182G>A (p.Pro394=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703797	NM_000479.5(AMH):c.1111T>C (p.Trp371Arg)	AMH (W371R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2615289	NM_000479.5(AMH):c.961G>A (p.Ala321Thr)	AMH (A321T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594973	NM_000479.5(AMH):c.1603C>G (p.Leu535Val)	AMH (L535V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577294	NM_000479.5(AMH):c.1097C>T (p.Pro366Leu)	AMH (P366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577293	NM_000479.5(AMH):c.136C>G (p.Pro46Ala)	AMH (P46A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2555719	NM_000479.5(AMH):c.932C>T (p.Pro311Leu)	AMH (P311L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554502	NM_000479.5(AMH):c.935G>A (p.Arg312His)	AMH (R312H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542651	NM_000479.5(AMH):c.1097C>G (p.Pro366Arg)	AMH (P366R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517608	NM_000479.5(AMH):c.1250G>A (p.Gly417Asp)	AMH (G417D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506201	NM_000479.5(AMH):c.466G>A (p.Ala156Thr)	AMH (A156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490212	NM_000479.5(AMH):c.1313G>T (p.Trp438Leu)	AMH (W438L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485739	NM_000479.5(AMH):c.251T>C (p.Leu84Pro)	AMH (L84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471592	NM_000479.5(AMH):c.1538T>C (p.Met513Thr)	AMH (M513T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2460062	NM_000479.5(AMH):c.1322G>C (p.Arg441Pro)	AMH (R441P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ARID3A, ARRDC5 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2418374	NM_000479.5(AMH):c.828A>G (p.Pro276=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397224	NM_000479.5(AMH):c.346C>T (p.Arg116Trp)	AMH (R116W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394380	NM_000479.5(AMH):c.607C>T (p.Pro203Ser)	AMH, LOC130063038 +1 more (P203S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388791	NM_000479.5(AMH):c.281C>T (p.Pro94Leu)	AMH (P94L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382087	NM_000479.5(AMH):c.1424G>A (p.Arg475His)	AMH (R475H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356407	NM_000479.5(AMH):c.967T>C (p.Phe323Leu)	AMH (F323L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345138	NM_000479.5(AMH):c.706G>C (p.Gly236Arg)	AMH (G236R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332934	NM_000479.5(AMH):c.52G>A (p.Ala18Thr)	AMH, LOC108783649 (A18T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329347	NM_000479.5(AMH):c.25C>A (p.Leu9Met)	AMH, LOC108783649 (L9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309123	NM_000479.5(AMH):c.128T>C (p.Leu43Ser)	AMH (L43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298276	NM_000479.5(AMH):c.502C>T (p.Pro168Ser)	AMH (P168S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296829	NM_000479.5(AMH):c.1255G>C (p.Gly419Arg)	AMH (G419R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287580	NM_000479.5(AMH):c.1396G>A (p.Glu466Lys)	AMH (E466K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286624	NM_000479.5(AMH):c.1375G>C (p.Asp459His)	AMH (D459H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276547	NM_000479.5(AMH):c.502C>A (p.Pro168Thr)	AMH (P168T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267121	NM_000479.5(AMH):c.712G>C (p.Asp238His)	AMH (D238H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245535	NM_000479.5(AMH):c.1426T>C (p.Ser476Pro)	AMH (S476P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241329	NM_000479.5(AMH):c.782C>T (p.Pro261Leu)	AMH (P261L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237100	NM_000479.5(AMH):c.470G>A (p.Gly157Asp)	AMH (G157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2232225	NM_000479.5(AMH):c.1117A>C (p.Thr373Pro)	AMH (T373P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223391	NM_000479.5(AMH):c.430C>G (p.Pro144Ala)	AMH (P144A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215538	NM_000479.5(AMH):c.1033C>T (p.Pro345Ser)	AMH (P345S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193494	NM_000479.5(AMH):c.575A>G (p.Asp192Gly)	AMH, LOC130063038 +1 more (D192G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2174121	NM_000479.5(AMH):c.1602G>A (p.Lys534=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169606	NM_000479.5(AMH):c.555+1G>T	AMH	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2138185	NM_000479.5(AMH):c.1112G>A (p.Trp371Ter)	AMH (W371*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2134595	NM_000479.5(AMH):c.664+7C>G	AMH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128516	NM_000479.5(AMH):c.1410C>T (p.Asp470=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118103	NM_000479.5(AMH):c.396C>T (p.Val132=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111093	NM_000479.5(AMH):c.1204C>A (p.Pro402Thr)	AMH (P402T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095196	NM_000479.5(AMH):c.1660G>A (p.Ala554Thr)	AMH (A554T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073897	NM_000479.5(AMH):c.232G>A (p.Ala78Thr)	AMH (A78T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073422	NM_000479.5(AMH):c.1192C>A (p.Pro398Thr)	AMH (P398T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066260	NM_000479.5(AMH):c.304G>A (p.Val102Ile)	AMH (V102I)	Single nucleotide variant (missense variant)	AMH-related disorder +1 more	GBenign
Select item 2059646	NM_000479.5(AMH):c.906G>A (p.Arg302=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055429	NM_000479.5(AMH):c.1059T>G (p.Thr353=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052789	NM_000479.5(AMH):c.1552G>A (p.Ala518Thr)	AMH (A518T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038298	NM_000479.5(AMH):c.1657G>T (p.Val553Leu)	AMH (V553L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990489	NM_000479.5(AMH):c.1491C>G (p.Ser497=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984888	NM_000479.5(AMH):c.1254C>G (p.Leu418=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911163	NM_000479.5(AMH):c.766G>C (p.Glu256Gln)	AMH (E256Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1909084	NM_000479.5(AMH):c.5G>A (p.Arg2Gln)	AMH, LOC108783649 (R2Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804920	NM_000479.5(AMH):c.1165G>T (p.Glu389Ter)	AMH (E389*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1716642	NM_000479.5(AMH):c.668C>T (p.Ser223Phe)	AMH (S223F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711458	NM_000479.5(AMH):c.852A>G (p.Pro284=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1694882	NM_000479.5(AMH):c.915G>C (p.Pro305=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671000	NM_000479.5(AMH):c.428C>T (p.Thr143Ile)	AMH (T143I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1659714	NM_000479.5(AMH):c.825-12T>G	AMH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1629201	NM_000479.5(AMH):c.789C>T (p.His263=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615499	NM_000479.5(AMH):c.1308G>A (p.Val436=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601382	NM_000479.5(AMH):c.834G>A (p.Ala278=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1600642	NM_000479.5(AMH):c.1544= (p.Val515=)	AMH	Variation (no sequence alteration)	not provided	GBenign
Select item 1597628	NM_000479.5(AMH):c.316G>A (p.Gly106Ser)	AMH (G106S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1593294	NM_000479.5(AMH):c.1562C>T (p.Ala521Val)	AMH (A521V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1591512	NM_000479.5(AMH):c.950C>G (p.Pro317Arg)	AMH (P317R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1579497	NM_000479.5(AMH):c.665-7dup	AMH	Duplication (intron variant)	not provided	GBenign
Select item 1566165	NM_000479.5(AMH):c.1383G>A (p.Pro461=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545053	NM_000479.5(AMH):c.53C>T (p.Ala18Val)	AMH, LOC108783649 (A18V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1544179	NM_000479.5(AMH):c.956C>T (p.Ala319Val)	AMH (A319V)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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