Related gene-specific medical variations for Gene (Select 79101) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2542561	NM_024116.4(TAF1D):c.430G>T (p.Ala144Ser)	LOC126861295, TAF1D (A144S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490727	NM_024116.4(TAF1D):c.389G>C (p.Gly130Ala)	LOC126861295, TAF1D (G130A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466045	NM_024116.4(TAF1D):c.317G>A (p.Arg106Gln)	LOC126861295, TAF1D (R106Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380810	NM_024116.4(TAF1D):c.142C>T (p.Pro48Ser)	LOC126861295, TAF1D (P48S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378807	NM_033395.2(CEP295):c.7772C>G (p.Thr2591Arg)	CEP295, TAF1D (T2591R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365184	NM_024116.4(TAF1D):c.167C>T (p.Pro56Leu)	LOC126861295, TAF1D (P56L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281807	NM_024116.4(TAF1D):c.250T>G (p.Phe84Val)	LOC126861295, TAF1D (F84V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262458	NM_024116.4(TAF1D):c.454T>C (p.Phe152Leu)	LOC126861295, TAF1D (F152L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710124	NM_033395.2(CEP295):c.7768-10C>T	CEP295, TAF1D	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign