Related gene-specific medical variations for Gene (Select 6874) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360261	NM_003185.4(TAF4):c.1232G>C (p.Ser411Thr)	TAF4 (S411T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3324259	NM_003185.4(TAF4):c.964C>T (p.Pro322Ser)	MIR3195, TAF4 (P322S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324255	NM_003185.4(TAF4):c.965C>T (p.Pro322Leu)	MIR3195, TAF4 (P322L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324248	NM_003185.4(TAF4):c.962G>A (p.Gly321Asp)	MIR3195, TAF4 (G321D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611667	NM_003185.4(TAF4):c.944C>G (p.Pro315Arg)	MIR3195, TAF4 (P315R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546619	NM_003185.4(TAF4):c.980G>A (p.Gly327Asp)	MIR3195, TAF4 (G327D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475432	NM_003185.4(TAF4):c.940G>C (p.Ala314Pro)	MIR3195, TAF4 (A314P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364120	NM_003185.4(TAF4):c.1007C>T (p.Ala336Val)	MIR3195, TAF4 (A336V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342377	NM_003185.4(TAF4):c.973G>T (p.Val325Phe)	MIR3195, TAF4 (V325F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331304	NM_003185.4(TAF4):c.1001C>T (p.Ala334Val)	MIR3195, TAF4 (A334V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1526697	GRCh37/hg19 20q13.33(chr20:60516264-60589996)	TAF4	Copy number loss	not specified	GUncertain significance
Select item 1339341	NM_003185.4(TAF4):c.3101_3102del (p.Pro1034fs)	TAF4 (P1034fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1227169	NM_003185.4(TAF4):c.969G>T (p.Ala323=)	MIR3195, TAF4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign