"Ambry Genetics"[submitter] AND "TAF1D"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2378807	NM_033395.2(CEP295):c.7772C>G (p.Thr2591Arg)	CEP295, TAF1D (T2591R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2623498	NM_024116.4(TAF1D):c.815G>A (p.Gly272Glu)	TAF1D (G272E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485821	NM_024116.4(TAF1D):c.758A>G (p.Asp253Gly)	TAF1D (D253G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603517	NM_024116.4(TAF1D):c.673G>A (p.Glu225Lys)	TAF1D (E225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395025	NM_024116.4(TAF1D):c.634A>G (p.Thr212Ala)	TAF1D (T212A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472557	NM_024116.4(TAF1D):c.619C>T (p.Pro207Ser)	TAF1D (P207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173456	NM_024116.4(TAF1D):c.505T>C (p.Tyr169His)	TAF1D (Y169H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308852	NM_024116.4(TAF1D):c.487T>C (p.Tyr163His)	TAF1D (Y163H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262458	NM_024116.4(TAF1D):c.454T>C (p.Phe152Leu)	LOC126861295, TAF1D (F152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542561	NM_024116.4(TAF1D):c.430G>T (p.Ala144Ser)	LOC126861295, TAF1D (A144S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173455	NM_024116.4(TAF1D):c.421G>A (p.Glu141Lys)	LOC126861295, TAF1D (E141K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173453	NM_024116.4(TAF1D):c.389G>A (p.Gly130Glu)	LOC126861295, TAF1D (G130E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490727	NM_024116.4(TAF1D):c.389G>C (p.Gly130Ala)	LOC126861295, TAF1D (G130A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466045	NM_024116.4(TAF1D):c.317G>A (p.Arg106Gln)	LOC126861295, TAF1D (R106Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281807	NM_024116.4(TAF1D):c.250T>G (p.Phe84Val)	LOC126861295, TAF1D (F84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173451	NM_024116.4(TAF1D):c.193T>G (p.Ser65Ala)	LOC126861295, TAF1D (S65A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365184	NM_024116.4(TAF1D):c.167C>T (p.Pro56Leu)	LOC126861295, TAF1D (P56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173449	NM_024116.4(TAF1D):c.161G>A (p.Arg54His)	LOC126861295, TAF1D (R54H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2380810	NM_024116.4(TAF1D):c.142C>T (p.Pro48Ser)	LOC126861295, TAF1D (P48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173454	NM_024116.4(TAF1D):c.41C>T (p.Ser14Phe)	TAF1D (S14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173452	NM_024116.4(TAF1D):c.25C>T (p.Leu9Phe)	TAF1D (L9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 21