"Ambry Genetics"[submitter] AND "TAF1B"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2336797	NM_005680.3(TAF1B):c.113C>T (p.Thr38Ile)	TAF1B (T38I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484398	NM_005680.3(TAF1B):c.137A>G (p.Asn46Ser)	TAF1B (N46S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531140	NM_005680.3(TAF1B):c.293C>A (p.Pro98Gln)	TAF1B (P98Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370321	NM_005680.3(TAF1B):c.398C>T (p.Thr133Met)	TAF1B (T133M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364901	NM_005680.3(TAF1B):c.524C>G (p.Pro175Arg)	TAF1B (P175R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270236	NM_005680.3(TAF1B):c.602G>A (p.Arg201Gln)	TAF1B (R201Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552545	NM_005680.3(TAF1B):c.685A>G (p.Ile229Val)	TAF1B (I229V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212341	NM_005680.3(TAF1B):c.776A>G (p.Tyr259Cys)	TAF1B (Y259C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556987	NM_005680.3(TAF1B):c.796T>C (p.Phe266Leu)	TAF1B (F266L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495288	NM_005680.3(TAF1B):c.967A>C (p.Ser323Arg)	TAF1B (S323R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404550	NM_005680.3(TAF1B):c.971T>C (p.Leu324Ser)	TAF1B (L69S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398251	NM_005680.3(TAF1B):c.1033A>G (p.Ile345Val)	TAF1B (I90V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469775	NM_005680.3(TAF1B):c.1174A>G (p.Lys392Glu)	TAF1B (K137E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513517	NM_005680.3(TAF1B):c.1348G>A (p.Val450Met)	TAF1B (V195M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298887	NM_005680.3(TAF1B):c.1481T>A (p.Leu494His)	TAF1B (L239H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544342	NM_005680.3(TAF1B):c.1681G>A (p.Val561Met)	TAF1B (V561M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323318	NM_005680.3(TAF1B):c.1720A>C (p.Ser574Arg)	TAF1B (S319R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance