TEAD3[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 2363482	NM_003214.4(TEAD3):c.1297G>A (p.Val433Ile)	TEAD3 (V433I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298802	NM_003214.4(TEAD3):c.1202C>T (p.Thr401Met)	TEAD3 (T401M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525234	NM_003214.4(TEAD3):c.1113G>T (p.Met371Ile)	TEAD3 (M371I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515931	NM_003214.4(TEAD3):c.1082G>A (p.Arg361His)	TEAD3 (R361H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608378	NM_003214.4(TEAD3):c.1081C>T (p.Arg361Cys)	TEAD3 (R361C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394066	NM_003214.4(TEAD3):c.991G>A (p.Val331Ile)	TEAD3 (V331I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329927	NM_003214.4(TEAD3):c.904G>A (p.Asp302Asn)	TEAD3 (D302N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360999	NM_003214.4(TEAD3):c.754G>A (p.Gly252Ser)	TEAD3 (G252S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381888	NM_003214.4(TEAD3):c.676C>T (p.Arg226Trp)	TEAD3 (R226W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208064	NM_003214.4(TEAD3):c.652C>T (p.Arg218Cys)	TEAD3 (R218C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482228	NM_003214.4(TEAD3):c.645G>T (p.Trp215Cys)	TEAD3 (W215C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568997	NM_003214.4(TEAD3):c.584C>T (p.Thr195Met)	TEAD3 (T195M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316207	NM_003214.4(TEAD3):c.568C>T (p.Pro190Ser)	TEAD3 (P190S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411446	NM_003214.4(TEAD3):c.524C>T (p.Ser175Phe)	TEAD3 (S175F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482968	NM_003214.4(TEAD3):c.421C>A (p.Gln141Lys)	TEAD3 (Q141K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376023	NM_003214.4(TEAD3):c.97G>A (p.Gly33Ser)	TEAD3 (G33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7358	NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)	TEAD3, TULP1 (F491L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 25