"New York Genome Center"[submitter] AND "WDFY3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342386	NM_014991.6(WDFY3):c.9823+1507C>T	WDFY3	Single nucleotide variant (intron variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1679698	NM_014991.6(WDFY3):c.9754C>T (p.Pro3252Ser)	WDFY3 (P3252S)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1696515	NM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe)	WDFY3 (C3087F)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1213742	NM_014991.6(WDFY3):c.9134C>G (p.Thr3045Ser)	LOC126807101, WDFY3 (T3045S)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1696631	NM_014991.6(WDFY3):c.7684T>G (p.Phe2562Val)	WDFY3 (F2562V)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant +1 more	GUncertain significance
Select item 1325598	NM_014991.6(WDFY3):c.6370A>G (p.Thr2124Ala)	WDFY3 (T2124A)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1213732	NM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly)	WDFY3 (A2106G)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1184342	NM_014991.6(WDFY3):c.5404C>T (p.Arg1802Trp)	WDFY3 (R1802W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 978108	NM_014991.6(WDFY3):c.5402G>A (p.Cys1801Tyr)	WDFY3 (C1801Y)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1325516	NM_014991.6(WDFY3):c.4828A>C (p.Asn1610His)	WDFY3 (N1610H)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1342397	NM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr)	WDFY3 (F1520Y)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 977339	NM_014991.6(WDFY3):c.3034G>C (p.Ala1012Pro)	WDFY3 (A1012P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977388	NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)	WDFY3, WDFY3-AS1 (R783C)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1342578	NM_014991.6(WDFY3):c.853G>A (p.Gly285Arg)	WDFY3 (G285R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance