"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TAF1"[gene - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2660871	NM_004606.4(TAF1):c.22C>T (p.Leu8=)	TAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624426	NM_004606.5(TAF1):c.-7C>T	TAF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 444811	NM_004606.5(TAF1):c.143G>A (p.Gly48Asp)	TAF1 (G68D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2660872	NM_004606.5(TAF1):c.145T>C (p.Leu49=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172646	NM_004606.5(TAF1):c.204C>G (p.Thr68=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2660873	NM_004606.5(TAF1):c.230A>C (p.Asp77Ala)	TAF1 (D77A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025754	NM_004606.5(TAF1):c.294A>T (p.Glu98Asp)	TAF1 (E98D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 696740	NM_004606.5(TAF1):c.297T>C (p.Asp99=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660874	NM_004606.5(TAF1):c.626C>A (p.Thr209Asn)	TAF1 (T188N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660875	NM_004606.5(TAF1):c.627C>G (p.Thr209=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1299197	NM_004606.5(TAF1):c.633A>G (p.Pro211=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 695550	NM_004606.5(TAF1):c.830A>T (p.Gln277Leu)	TAF1 (Q256L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 932609	NM_004606.5(TAF1):c.891C>T (p.Tyr297=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2660876	NM_004606.5(TAF1):c.1086G>A (p.Gly362=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660877	NM_004606.5(TAF1):c.1170G>A (p.Glu390=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2499144	NM_004606.5(TAF1):c.1240G>T (p.Asp414Tyr)	TAF1 (D393Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1639082	NM_004606.5(TAF1):c.1473C>G (p.Ala491=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2418515	NM_004606.5(TAF1):c.1480C>T (p.Arg494Trp)	TAF1 (R473W +1 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related condition +1 more	GBenign/Likely benign
Select item 624427	NM_004606.5(TAF1):c.1546G>A (p.Asp516Asn)	TAF1 (D516N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 696504	NM_004606.5(TAF1):c.1666-8A>G	TAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300972	NM_004606.5(TAF1):c.1840C>T (p.Arg614Trp)	TAF1 (R593W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660878	NM_004606.5(TAF1):c.2122-3T>C	TAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660879	NM_004606.5(TAF1):c.2569+3C>T	TAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 696142	NM_004606.5(TAF1):c.2688G>A (p.Glu896=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1335778	NM_004606.5(TAF1):c.2928G>A (p.Gln976=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 701170	NM_004606.5(TAF1):c.3090G>A (p.Val1030=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 695668	NM_004606.5(TAF1):c.3228-6T>C	TAF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2660880	NM_004606.5(TAF1):c.3365G>A (p.Arg1122Gln)	TAF1 (R1101Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807758	NM_004606.5(TAF1):c.3395G>A (p.Arg1132Gln)	TAF1 (R1111Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067801	NM_004606.5(TAF1):c.3416C>T (p.Ser1139Leu)	TAF1 (S1118L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 219116	NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)	TAF1 (R1205W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 700214	NM_004606.5(TAF1):c.4155G>A (p.Thr1385=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2660881	NM_004606.5(TAF1):c.4209A>G (p.Thr1403=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2163948	NM_004606.5(TAF1):c.4302C>T (p.Asn1434=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1879768	NM_004606.5(TAF1):c.4348C>G (p.Leu1450Val)	TAF1 (L1429V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695307	NM_004606.5(TAF1):c.4543A>G (p.Ile1515Val)	TAF1 (I1494V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 695775	NM_004606.5(TAF1):c.4698G>A (p.Arg1566=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	X-linked dystonia-parkinsonism +3 more	GBenign/Likely benign
Select item 695493	NM_004606.5(TAF1):c.4754-4A>G	TAF1	Single nucleotide variant (intron variant)	X-linked dystonia-parkinsonism +2 more	GLikely benign
Select item 2660882	NM_004606.5(TAF1):c.4812A>G (p.Thr1604=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 500605	NM_004606.5(TAF1):c.4948T>C (p.Leu1650=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	TAF1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2673243	NM_004606.5(TAF1):c.4982G>A (p.Arg1661Gln)	TAF1 (R1640Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1918902	NM_004606.5(TAF1):c.5036G>T (p.Ser1679Ile)	TAF1 (S1681I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 699971	NM_004606.5(TAF1):c.5230C>T (p.Leu1744=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 807759	NM_004606.5(TAF1):c.5291G>A (p.Arg1764His)	TAF1 (R1764H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177920	NM_004606.5(TAF1):c.5358C>T (p.Asp1786=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2673244	NM_004606.5(TAF1):c.5399+7G>A	TAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660883	NM_004606.5(TAF1):c.*424C>T	TAF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

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Items: 49