"Ambry Genetics"[submitter] AND "WDR4"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2490036	NM_018669.6(WDR4):c.1213C>A (p.Pro405Thr)	WDR4 (P405T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1482224	NM_018669.6(WDR4):c.1195C>A (p.His399Asn)	WDR4 (H398N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2402184	NM_018669.6(WDR4):c.1191C>A (p.Asp397Glu)	WDR4 (D251E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1441087	NM_018669.6(WDR4):c.1178C>T (p.Pro393Leu)	WDR4 (P247L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2144900	NM_018669.6(WDR4):c.1168C>T (p.Arg390Trp)	WDR4 (R244W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2367585	NM_018669.6(WDR4):c.1163G>A (p.Arg388Gln)	WDR4 (R242Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410573	NM_018669.6(WDR4):c.1150G>A (p.Glu384Lys)	WDR4 (E383K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410572	NM_018669.6(WDR4):c.1148T>C (p.Leu383Pro)	WDR4 (L237P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1510448	NM_018669.6(WDR4):c.1131G>C (p.Glu377Asp)	WDR4 (E231D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2607983	NM_018669.6(WDR4):c.1120A>C (p.Lys374Gln)	WDR4 (K373Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331446	NM_018669.6(WDR4):c.1114C>G (p.Leu372Val)	WDR4 (L371V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255312	NM_018669.6(WDR4):c.1046-3C>T	WDR4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2076780	NM_018669.6(WDR4):c.1021C>T (p.Arg341Cys)	WDR4 (R340C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2376377	NM_018669.6(WDR4):c.994G>A (p.Val332Met)	WDR4 (V332M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2052448	NM_018669.6(WDR4):c.821A>T (p.Asp274Val)	WDR4 (D128V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2396240	NM_018669.6(WDR4):c.799G>A (p.Val267Met)	WDR4 (V267M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2067868	NM_018669.6(WDR4):c.791+4A>G	WDR4	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2541661	NM_018669.6(WDR4):c.790G>A (p.Gly264Ser)	WDR4 (G118S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297972	NM_018669.6(WDR4):c.779_786del (p.Leu260fs)	WDR4 (L259fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2557603	NM_018669.6(WDR4):c.737C>T (p.Ala246Val)	WDR4 (A100V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1971508	NM_018669.6(WDR4):c.736G>A (p.Ala246Thr)	WDR4 (A100T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2053306	NM_018669.6(WDR4):c.586G>A (p.Val196Met)	WDR4 (V196M +1 more)	Single nucleotide variant (missense variant +1 more)	WDR4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2309629	NM_018669.6(WDR4):c.584C>A (p.Ser195Tyr)	WDR4 (S49Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379544	NM_018669.6(WDR4):c.578G>A (p.Arg193His)	WDR4 (R47H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2278224	NM_018669.6(WDR4):c.538A>G (p.Ile180Val)	WDR4 (I34V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227395	NM_018669.6(WDR4):c.533A>G (p.His178Arg)	WDR4 (H32R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406817	NM_018669.6(WDR4):c.524C>T (p.Ala175Val)	WDR4 (A29V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360325	NM_018669.6(WDR4):c.523G>A (p.Ala175Thr)	WDR4 (A29T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2191417	NM_018669.6(WDR4):c.472C>T (p.Arg158Cys)	WDR4 (R12C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2490037	NM_018669.6(WDR4):c.443T>C (p.Leu148Pro)	WDR4 (L148P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553961	NM_018669.6(WDR4):c.335C>A (p.Ala112Asp)	WDR4 (A112D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1922002	NM_018669.6(WDR4):c.301G>C (p.Val101Leu)	WDR4 (V101L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2518678	NM_018669.6(WDR4):c.290G>A (p.Ser97Asn)	WDR4 (S97N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2053918	NM_018669.6(WDR4):c.266G>A (p.Arg89His)	WDR4 (R89H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1806831	NM_018669.6(WDR4):c.188C>T (p.Ala63Val)	WDR4 (A63V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2457609	NM_018669.6(WDR4):c.184G>A (p.Gly62Ser)	WDR4 (G62S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2171312	NM_018669.6(WDR4):c.183C>G (p.Ser61Arg)	WDR4 (S61R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2358538	NM_018669.6(WDR4):c.103C>T (p.Leu35Phe)	WDR4 (L35F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2302645	NM_018669.6(WDR4):c.59G>T (p.Ser20Ile)	WDR4 (S20I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2488223	NM_018669.6(WDR4):c.52G>T (p.Gly18Cys)	WDR4 (G18C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2266945	NM_018669.6(WDR4):c.49C>T (p.Arg17Trp)	WDR4 (R17W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1805519	NM_018669.6(WDR4):c.38C>T (p.Thr13Met)	WDR4 (T13M)	Single nucleotide variant (missense variant +2 more)	Microcephaly, growth deficiency, seizures, and brain malformations +1 more	GUncertain significance

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Items: 42