"Baylor Genetics"[submitter] AND "WDFY3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033721	NM_014991.6(WDFY3):c.10486C>T (p.Arg3496Cys)	WDFY3 (R3496C)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1031853	NM_014991.6(WDFY3):c.9347C>A (p.Thr3116Asn)	WDFY3 (T3116N)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1029337	NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter)	WDFY3 (R2763*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 1029336	NM_014991.6(WDFY3):c.7910G>A (p.Arg2637Gln)	WDFY3 (R2637Q)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1027921	NM_014991.6(WDFY3):c.6619C>G (p.Leu2207Val)	WDFY3 (L2207V)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1027920	NM_014991.6(WDFY3):c.6398C>T (p.Pro2133Leu)	WDFY3 (P2133L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2442018	NM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu)	WDFY3 (S1942L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 1027919	NM_014991.6(WDFY3):c.1150T>G (p.Phe384Val)	WDFY3 (F384V)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic