268[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 1183744	NC_000019.10:g.2248883A>G	AMH, LOC108783649	Single nucleotide variant	not provided	GBenign
Select item 1236042	NC_000019.10:g.2249113G>A	AMH, LOC108783649	Single nucleotide variant	not provided	GBenign
Select item 1909084	NM_000479.5(AMH):c.5G>A (p.Arg2Gln)	AMH, LOC108783649 (R2Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 381731	NM_000479.5(AMH):c.35T>G (p.Val12Gly)	AMH, LOC108783649 (V12G)	Single nucleotide variant (missense variant)	not provided +1 more	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 1545053	NM_000479.5(AMH):c.53C>T (p.Ala18Val)	AMH, LOC108783649 (A18V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1448481	NM_000479.5(AMH):c.76A>G (p.Arg26Gly)	AMH (R26G)	Single nucleotide variant (missense variant)	not provided	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 727144	NM_000479.5(AMH):c.129G>A (p.Leu43=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577293	NM_000479.5(AMH):c.136C>G (p.Pro46Ala)	AMH (P46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1362631	NM_000479.5(AMH):c.137C>A (p.Pro46His)	AMH (P46H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518296	NM_000479.5(AMH):c.146G>T (p.Ser49Ile)	AMH (S49I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1323119	NM_000479.5(AMH):c.151del (p.Gln51fs)	AMH (Q51fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GPathogenic
Select item 761241	NM_000479.5(AMH):c.166C>T (p.Leu56=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337165	NM_000479.5(AMH):c.174A>G (p.Ala58=)	AMH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3023027	NM_000479.5(AMH):c.180C>T (p.Gly60=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372806	NM_000479.5(AMH):c.208dup (p.Leu70fs)	AMH (L70fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2073897	NM_000479.5(AMH):c.232G>A (p.Ala78Thr)	AMH (A78T)	Single nucleotide variant (missense variant)	not provided	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 1379979	NM_000479.5(AMH):c.251T>A (p.Leu84Gln)	AMH (L84Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237409	NM_000479.5(AMH):c.252G>A (p.Leu84=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745907	NM_000479.5(AMH):c.273C>T (p.Arg91=)	AMH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1326605	NM_000479.5(AMH):c.295A>T (p.Thr99Ser)	AMH (T99S)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome +1 more	GUncertain significance
Select item 782047	NM_000479.5(AMH):c.300C>T (p.Phe100=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1285842	NM_000479.5(AMH):c.303G>A (p.Gly101=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2066260	NM_000479.5(AMH):c.304G>A (p.Val102Ile)	AMH (V102I)	Single nucleotide variant (missense variant)	AMH-related condition +1 more	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 2397224	NM_000479.5(AMH):c.346C>T (p.Arg116Trp)	AMH (R116W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471944	NM_000479.5(AMH):c.349C>T (p.Arg117Trp)	AMH (R117W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254116	NM_000479.5(AMH):c.350G>A (p.Arg117Gln)	AMH (R117Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 719225	NM_000479.5(AMH):c.368G>A (p.Arg123Gln)	AMH (R123Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2118103	NM_000479.5(AMH):c.396C>T (p.Val132=)	AMH	Single nucleotide variant (synonymous 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 1241276	NM_000479.5(AMH):c.413-100G>A	AMH	Single nucleotide variant (intron variant)	not provided	GBenign
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 2223391	NM_000479.5(AMH):c.430C>G (p.Pro144Ala)	AMH (P144A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2997302	NM_000479.5(AMH):c.438G>A (p.Leu146=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8623	NM_000479.5(AMH):c.472_485del (p.Pro158fs)	AMH (P158fs)	Deletion (frameshift variant)	Persistent mullerian duct syndrome, type I	GPathogenic
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 2237100	NM_000479.5(AMH):c.470G>A (p.Gly157Asp)	AMH (G157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1336718	NM_000479.5(AMH):c.478G>C (p.Glu160Gln)	AMH (E160Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2736758	NM_000479.5(AMH):c.500A>G (p.Tyr167Cys)	AMH (Y167C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 2276547	NM_000479.5(AMH):c.502C>A (p.Pro168Thr)	AMH (P168T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257796	NM_000479.5(AMH):c.546G>A (p.Pro182=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732333	NM_000479.5(AMH):c.553C>G (p.Gln185Glu)	AMH (Q185E)	Single nucleotide variant (missense 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 1262695	NM_000479.5(AMH):c.555+50G>A	AMH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 987678	NM_000479.5(AMH):c.563G>A (p.Cys188Tyr)	AMH, LOC130063038 +1 more (C188Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Persistent Mullerian duct syndrome	GPathogenic
Select item 8624	NM_000479.5(AMH):c.571C>T (p.Arg191Ter)	MIR4321, AMH +1 more (R191*)	Single nucleotide variant (non-coding transcript variant +1 more)	Persistent mullerian duct syndrome, type I	GPathogenic
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 1480849	NM_000479.5(AMH):c.580C>T (p.Arg194Cys)	AMH, LOC130063038 +1 more (R194C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1355108	NM_000479.5(AMH):c.604C>T (p.Arg202Cys)	AMH, LOC130063038 +1 more (R202C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 390467	NM_000479.5(AMH):c.616G>C (p.Ala206Pro)	AMH, MIR4321 (A206P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1344503	NM_000479.5(AMH):c.649C>T (p.Gln217Ter)	AMH (Q217*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1439769	NM_000479.5(AMH):c.656G>A (p.Arg219His)	AMH (R219H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134595	NM_000479.5(AMH):c.664+7C>G	AMH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538782	NM_000479.5(AMH):c.664+20G>A	AMH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1579497	NM_000479.5(AMH):c.665-7dup	AMH	Duplication (intron variant)	not provided	GBenign
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 2345138	NM_000479.5(AMH):c.706G>C (p.Gly236Arg)	AMH (G236R)	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 1911163	NM_000479.5(AMH):c.766G>C (p.Glu256Gln)	AMH (E256Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1629201	NM_000479.5(AMH):c.789C>T (p.His263=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403680	NM_000479.5(AMH):c.802A>G (p.Thr268Ala)	AMH (T268A)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome +2 more	GUncertain significance
Select item 1170734	NM_000479.5(AMH):c.808C>T (p.Pro270Ser)	AMH (P270S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1338164	NM_000479.5(AMH):c.824+10G>C	AMH	Single nucleotide variant (intron variant)	not specified	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 1659714	NM_000479.5(AMH):c.825-12T>G	AMH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2915889	NM_000479.5(AMH):c.825-10C>T	AMH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418374	NM_000479.5(AMH):c.828A>G (p.Pro276=)	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 1601382	NM_000479.5(AMH):c.834G>A (p.Ala278=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3035111	NM_000479.5(AMH):c.849G>A (p.Ser283=)	AMH	Single nucleotide variant (synonymous variant)	AMH-related condition	GLikely benign
Select item 1711458	NM_000479.5(AMH):c.852A>G (p.Pro284=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1115487	NM_000479.5(AMH):c.864C>G (p.Asp288Glu)	AMH (D288E)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2994858	NM_000479.5(AMH):c.870C>T (p.Phe290=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435809	NM_000479.5(AMH):c.905G>A (p.Arg302Gln)	AMH (R302Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2059646	NM_000479.5(AMH):c.906G>A (p.Arg302=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694882	NM_000479.5(AMH):c.915G>C (p.Pro305=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1591512	NM_000479.5(AMH):c.950C>G (p.Pro317Arg)	AMH (P317R)	Single nucleotide variant (missense variant)	AMH-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1544179	NM_000479.5(AMH):c.956C>T (p.Ala319Val)	AMH (A319V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615289	NM_000479.5(AMH):c.961G>A (p.Ala321Thr)	AMH (A321T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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