11714[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 1110020	NM_021961.6(TEAD1):c.21C>T (p.Ser7=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848657	NM_021961.6(TEAD1):c.22G>C (p.Gly8Arg)	TEAD1 (G8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418435	NM_021961.6(TEAD1):c.32G>A (p.Ser11Asn)	TEAD1 (S11N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166281	NM_021961.6(TEAD1):c.39C>T (p.Ala13=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1491803	NM_021961.6(TEAD1):c.41A>G (p.Glu14Gly)	TEAD1 (E14G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175563	NM_021961.6(TEAD1):c.53G>A (p.Arg18Lys)	TEAD1 (R18K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 861237	NM_021961.6(TEAD1):c.68C>T (p.Ala23Val)	TEAD1 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836948	NM_021961.6(TEAD1):c.76C>T (p.Pro26Ser)	TEAD1 (P26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036850	NM_021961.6(TEAD1):c.77C>A (p.Pro26Gln)	TEAD1 (P26Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1357209	NM_021961.6(TEAD1):c.79A>G (p.Ile27Val)	TEAD1 (I27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943024	NM_021961.6(TEAD1):c.81T>A (p.Ile27=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124266	NM_021961.6(TEAD1):c.99G>A (p.Gly33=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646844	NM_021961.6(TEAD1):c.99G>C (p.Gly33=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531685	NM_021961.6(TEAD1):c.111C>T (p.Pro37=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1492271	NM_021961.6(TEAD1):c.113A>C (p.Asp38Ala)	TEAD1 (D38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1134915	NM_021961.6(TEAD1):c.117C>T (p.Ile39=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893074	NM_021961.6(TEAD1):c.129T>C (p.Phe43=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1132064	NM_021961.6(TEAD1):c.135G>A (p.Glu45=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124648	NM_021961.6(TEAD1):c.137C>A (p.Ala46Asp)	TEAD1 (A46D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011526	NM_021961.6(TEAD1):c.156A>T (p.Pro52=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810457	NM_021961.6(TEAD1):c.157T>C (p.Cys53Arg)	TEAD1 (C53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720042	NM_021961.6(TEAD1):c.176T>C (p.Ile59Thr)	TEAD1 (I59T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166743	NM_021961.6(TEAD1):c.186C>T (p.Asp62=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2026880	NM_021961.6(TEAD1):c.203-10T>C	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642202	NM_021961.6(TEAD1):c.252G>T (p.Thr84=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737332	NM_021961.6(TEAD1):c.252G>A (p.Thr84=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614449	NM_021961.6(TEAD1):c.258C>G (p.Thr86=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094833	NM_021961.6(TEAD1):c.261A>C (p.Arg87Ser)	TEAD1 (R87S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167743	NM_021961.6(TEAD1):c.267+9A>G	TEAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1664815	NM_021961.6(TEAD1):c.268-16_268-13del	TEAD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1957197	NM_021961.6(TEAD1):c.268-14C>T	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781330	NM_021961.6(TEAD1):c.268-11C>T	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 956332	NM_021961.6(TEAD1):c.268-6C>G	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040561	NM_021961.6(TEAD1):c.268-5T>G	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767250	NM_021961.6(TEAD1):c.268-4G>C	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753595	NM_021961.6(TEAD1):c.310G>T (p.Asp104Tyr)	LOC124421495, TEAD1 (D104Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564985	NM_021961.6(TEAD1):c.327A>G (p.Leu109=)	LOC124421495, TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992745	NM_021961.6(TEAD1):c.330+6C>T	LOC124421495, TEAD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 802657	NM_021961.6(TEAD1):c.331-907AT[4]	TEAD1	Microsatellite (intron variant)	Helicoid peripapillary chorioretinal degeneration	GBenign
Select item 1384676	NM_021961.6(TEAD1):c.333T>A (p.Asp111Glu)	TEAD1 (D111E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419918	NM_021961.6(TEAD1):c.351G>T (p.Lys117Asn)	TEAD1 (K117N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102286	NM_021961.6(TEAD1):c.365T>C (p.Met122Thr)	TEAD1 (M122T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011663	NM_021961.6(TEAD1):c.368C>T (p.Ala123Val)	TEAD1 (A123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171495	NM_021961.6(TEAD1):c.369G>A (p.Ala123=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472248	NM_021961.6(TEAD1):c.371C>T (p.Ala124Val)	TEAD1 (A124V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493333	NM_021961.6(TEAD1):c.382G>T (p.Ala128Ser)	TEAD1 (A128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895231	NM_021961.6(TEAD1):c.390C>T (p.Ile130=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976009	NM_021961.6(TEAD1):c.391G>A (p.Val131Ile)	TEAD1 (V131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662807	NM_021961.6(TEAD1):c.396G>A (p.Ser132=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161585	NM_021961.6(TEAD1):c.399C>T (p.Ala133=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3353968	NM_021961.6(TEAD1):c.402T>A (p.Thr134=)	TEAD1	Single nucleotide variant (synonymous variant)	TEAD1-related disorder	GLikely benign
Select item 1054987	NM_021961.6(TEAD1):c.403G>A (p.Ala135Thr)	TEAD1 (A135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104814	NM_021961.6(TEAD1):c.407T>C (p.Ile136Thr)	TEAD1 (I136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781693	NM_021961.6(TEAD1):c.410A>G (p.His137Arg)	TEAD1 (H137R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514951	NM_021961.6(TEAD1):c.413A>G (p.Asn138Ser)	TEAD1 (N138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932906	NM_021961.6(TEAD1):c.423G>T (p.Gly141=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288427	NM_021961.6(TEAD1):c.428C>G (p.Pro143Arg)	TEAD1 (P143R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074263	NM_021961.6(TEAD1):c.439C>T (p.Arg147Cys)	TEAD1 (R147C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480423	NM_021961.6(TEAD1):c.440G>A (p.Arg147His)	TEAD1 (R147H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501623	NM_021961.6(TEAD1):c.443C>T (p.Pro148Leu)	TEAD1 (P148L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915049	NM_021961.6(TEAD1):c.444G>A (p.Pro148=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175562	NM_021961.6(TEAD1):c.455G>A (p.Gly152Glu)	TEAD1 (G152E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1357695	NM_021961.6(TEAD1):c.458C>T (p.Ala153Val)	TEAD1 (A153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545984	NM_021961.6(TEAD1):c.459G>A (p.Ala153=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001059	NM_021961.6(TEAD1):c.461C>T (p.Pro154Leu)	TEAD1 (P154L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1153624	NM_021961.6(TEAD1):c.462G>A (p.Pro154=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1140277	NM_021961.6(TEAD1):c.465+8A>G	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1141874	NM_021961.6(TEAD1):c.465+13C>T	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952427	NM_021961.6(TEAD1):c.465+17G>T	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994522	NM_021961.6(TEAD1):c.474G>A (p.Pro158=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994117	NM_021961.6(TEAD1):c.483T>G (p.Ile161Met)	TEAD1 (I161M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978438	NM_021961.6(TEAD1):c.491G>T (p.Gly164Val)	TEAD1 (G164V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985846	NM_021961.6(TEAD1):c.496C>G (p.Pro166Ala)	TEAD1 (P166A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1929985	NM_021961.6(TEAD1):c.505T>C (p.Ser169Pro)	TEAD1 (S169P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578279	NM_021961.6(TEAD1):c.507A>C (p.Ser169=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065510	NM_021961.6(TEAD1):c.510A>G (p.Gln170=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019574	NM_021961.6(TEAD1):c.512+9G>C	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667069	NM_021961.6(TEAD1):c.512+10A>G	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930588	NM_021961.6(TEAD1):c.512+14G>A	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638929	NM_021961.6(TEAD1):c.512+15G>C	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765863	NM_021961.6(TEAD1):c.512+19G>T	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934229	NM_021961.6(TEAD1):c.513-17C>T	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083961	NM_021961.6(TEAD1):c.513-15TC[2]	TEAD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1092624	NM_021961.6(TEAD1):c.513-6T>C	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166402	NM_021961.6(TEAD1):c.513C>T (p.Asp171=)	TEAD1	Single nucleotide variant (synonymous variant)	Helicoid peripapillary chorioretinal degeneration +1 more	GBenign
Select item 1380644	NM_021961.6(TEAD1):c.514G>A (p.Val172Ile)	TEAD1 (V172I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012291	NM_021961.6(TEAD1):c.525T>C (p.Phe175=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932467	NM_021961.6(TEAD1):c.540C>T (p.Tyr180=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000021	NM_021961.6(TEAD1):c.541C>T (p.Pro181Ser)	TEAD1 (P181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844176	NM_021961.6(TEAD1):c.554C>T (p.Ala185Val)	TEAD1 (A185V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168922	NM_021961.6(TEAD1):c.555G>A (p.Ala185=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 957945	NM_021961.6(TEAD1):c.559A>G (p.Thr187Ala)	TEAD1 (T187A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488884	NM_021961.6(TEAD1):c.562G>A (p.Ala188Thr)	TEAD1 (A188T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1415374	NM_021961.6(TEAD1):c.565C>T (p.Pro189Ser)	TEAD1 (P189S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2985372	NM_021961.6(TEAD1):c.572C>G (p.Pro191Arg)	TEAD1 (P191R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667206	NM_021961.6(TEAD1):c.574+14A>C	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914597	NM_021961.6(TEAD1):c.575-15C>T	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996332	NM_021961.6(TEAD1):c.575-14G>A	TEAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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