268[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 236

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063093, LOC130063094 +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	LOC121627846, LOC121627847 +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	LOC130063161, LOC130063162 +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	LOC130063139, LOC130063140 +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 3352340	NM_000479.5(AMH):c.-2C>T	AMH, LOC108783649	Single nucleotide variant (5 prime UTR variant)	AMH-related disorder	GLikely benign
Select item 1909084	NM_000479.5(AMH):c.5G>A (p.Arg2Gln)	LOC108783649, AMH (R2Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3025681	NM_000479.5(AMH):c.23G>C (p.Ser8Thr)	LOC108783649, AMH (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	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 3292815	NM_000479.5(AMH):c.91G>T (p.Ala31Ser)	AMH (A31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3583552	NM_000479.5(AMH):c.118C>T (p.Arg40Ter)	AMH (R40*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GLikely pathogenic
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 provided +1 more	GUncertain significance
Select item 1362631	NM_000479.5(AMH):c.137C>A (p.Pro46His)	AMH (P46H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 518296	NM_000479.5(AMH):c.146G>T (p.Ser49Ile)	AMH (S49I)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome +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 3583553	NM_000479.5(AMH):c.209del (p.Leu70fs)	AMH (L70fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	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 3377282	NM_000479.5(AMH):c.258C>T (p.Ala86=)	AMH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 745907	NM_000479.5(AMH):c.273C>T (p.Arg91=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3583554	NM_000479.5(AMH):c.301G>A (p.Gly101Arg)	AMH (G101R)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
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)	not provided	GBenign
Select item 3535600	NM_000479.5(AMH):c.310A>C (p.Asn104His)	AMH (N104H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3535611	NM_000479.5(AMH):c.311A>C (p.Asn104Thr)	AMH (N104T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3535621	NM_000479.5(AMH):c.313A>C (p.Thr105Pro)	AMH (T105P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1597628	NM_000479.5(AMH):c.316G>A (p.Gly106Ser)	AMH (G106S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3583555	NM_000479.5(AMH):c.343_344del (p.Leu115fs)	AMH (L115fs)	Microsatellite (frameshift variant)	Persistent Mullerian duct syndrome +1 more	GPathogenic
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 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 3535498	NM_000479.5(AMH):c.385C>T (p.Arg129Cys)	AMH (R129C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3535508	NM_000479.5(AMH):c.386G>A (p.Arg129His)	AMH (R129H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3708901	NM_000479.5(AMH):c.391G>C (p.Val131Leu)	AMH (V131L)	Single nucleotide variant (missense 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 2895875	NM_000479.5(AMH):c.399A>G (p.Leu133=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3673695	NM_000479.5(AMH):c.403C>T (p.Leu135=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3723227	NM_000479.5(AMH):c.412+3A>G	AMH	Single nucleotide variant (intron variant)	not provided	GPathogenic
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 3665082	NM_000479.5(AMH):c.451C>T (p.Pro151Ser)	AMH (P151S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 8623	NM_000479.5(AMH):c.472_485del (p.Pro158fs)	AMH (P158fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2506201	NM_000479.5(AMH):c.466G>A (p.Ala156Thr)	AMH (A156T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 3766343	NM_000479.5(AMH):c.472C>T (p.Pro158Ser)	AMH (P158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336718	NM_000479.5(AMH):c.478G>C (p.Glu160Gln)	AMH (E160Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3771147	NM_000479.5(AMH):c.480G>C (p.Glu160Asp)	AMH (E160D)	Single nucleotide variant (missense variant)	not provided	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 3292782	NM_000479.5(AMH):c.544C>A (p.Pro182Thr)	AMH (P182T)	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)	AMH, LOC130063038 +1 more (R191*)	Single nucleotide variant (non-coding transcript variant +1 more)	Persistent Mullerian duct syndrome	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)	not provided +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 3292826	NM_000479.5(AMH):c.617C>T (p.Ala206Val)	AMH, MIR4321 (A206V)	Single nucleotide variant (non-coding transcript variant +1 more)	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 3605417	NM_000479.5(AMH):c.649dup (p.Gln217fs)	AMH (Q217fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 3358496	NM_000479.5(AMH):c.665-7A>G	AMH	Single nucleotide variant (intron variant)	AMH-related disorder	GLikely benign
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 3292746	NM_000479.5(AMH):c.682G>T (p.Ala228Ser)	AMH (A228S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3