"PreventionGenetics, part of Exact Sciences"[submitter] AND "TAF1"[gen - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 289208	NM_001286074.1(TAF1):c.32C>T (p.Thr11Ile)	TAF1	Single nucleotide variant (missense variant)	TAF1-related disorder +2 more	GBenign
Select item 695433	NM_004606.5(TAF1):c.87C>G (p.Ala29=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	TAF1-related disorder +1 more	GBenign
Select item 1339839	NM_004606.5(TAF1):c.235+3G>A	TAF1	Single nucleotide variant (intron variant)	TAF1-related disorder +1 more	GBenign/Likely benign
Select item 2631929	NM_004606.5(TAF1):c.535G>A (p.Glu179Lys)	TAF1 (E179K)	Single nucleotide variant (missense variant +2 more)	TAF1-related disorder	GUncertain significance
Select item 445905	NM_004606.5(TAF1):c.830AGG[3] (p.Glu278dup)	TAF1	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 932609	NM_004606.5(TAF1):c.891C>T (p.Tyr297=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	TAF1-related disorder +1 more	GBenign/Likely benign
Select item 2629523	NM_004606.5(TAF1):c.986T>C (p.Ile329Thr)	TAF1 (I308T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2630981	NM_004606.5(TAF1):c.1097G>A (p.Gly366Asp)	TAF1 (G345D +1 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related disorder	GUncertain significance
Select item 2633562	NM_004606.5(TAF1):c.1324A>G (p.Met442Val)	TAF1 (M421V +1 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related disorder	GUncertain significance
Select item 695418	NM_004606.5(TAF1):c.1431A>G (p.Val477=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2418515	NM_004606.5(TAF1):c.1480C>T (p.Arg494Trp)	TAF1 (R473W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2162311	NM_004606.5(TAF1):c.2405C>T (p.Thr802Met)	TAF1 (T802M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 697922	NM_004606.5(TAF1):c.2428-10T>C	TAF1	Single nucleotide variant (intron variant)	TAF1-related disorder +1 more	GBenign/Likely benign
Select item 2632657	NM_004606.5(TAF1):c.2618C>T (p.Thr873Met)	TAF1 (T852M +1 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related disorder	GUncertain significance
Select item 699411	NM_004606.5(TAF1):c.2782-10T>C	TAF1	Single nucleotide variant (intron variant)	TAF1-related disorder +1 more	GLikely benign
Select item 2336361	NM_004606.5(TAF1):c.2945C>T (p.Pro982Leu)	TAF1 (P982L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 695668	NM_004606.5(TAF1):c.3228-6T>C	TAF1	Single nucleotide variant (intron variant)	TAF1-related disorder +1 more	GBenign/Likely benign
Select item 696620	NM_004606.5(TAF1):c.3828T>G (p.Thr1276=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	TAF1-related disorder +1 more	GBenign/Likely benign
Select item 1175165	NM_004606.5(TAF1):c.4293C>A (p.Leu1431=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 695775	NM_004606.5(TAF1):c.4698G>A (p.Arg1566=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked, syndromic 33 +3 more	GBenign/Likely benign
Select item 2201224	NM_004606.5(TAF1):c.4729C>G (p.Leu1577Val)	TAF1 (L1556V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 696019	NM_004606.5(TAF1):c.4753+10del	TAF1	Deletion (intron variant)	TAF1-related disorder +1 more	GBenign/Likely benign
Select item 2660882	NM_004606.5(TAF1):c.4812A>G (p.Thr1604=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	TAF1-related disorder +1 more	GBenign/Likely benign
Select item 800227	NM_004606.5(TAF1):c.4822-3C>T	TAF1	Single nucleotide variant (intron variant)	TAF1-related disorder +1 more	GLikely benign
Select item 3033644	NM_004606.5(TAF1):c.4867A>G (p.Lys1623Glu)	TAF1 (K1602E +1 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related disorder	GUncertain significance
Select item 500605	NM_004606.5(TAF1):c.4948T>C (p.Leu1650=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	TAF1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2635138	NM_004606.5(TAF1):c.5016G>A (p.Met1672Ile)	TAF1 (M1651I +2 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related disorder	GUncertain significance
Select item 2636207	NM_004606.5(TAF1):c.5052G>T (p.Lys1684Asn)	TAF1 (K1663N +2 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related disorder	GUncertain significance
Select item 696012	NM_004606.5(TAF1):c.5306A>G (p.Asn1769Ser)	TAF1 (N1771S +2 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related disorder +1 more	GBenign
Select item 21011	NR_104387.1(TAF1):n.5894C>T	TAF1	Single nucleotide variant (non-coding transcript variant)	TAF1-related disorder	GUncertain significance

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Items: 30