"Revvity Omics, Revvity"[submitter] AND "WDR62"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438581	NM_001083961.2(WDR62):c.66G>A (p.Met22Ile)	WDR62 (M22I)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1323767	NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs)	WDR62 (I68fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 1336501	NM_001083961.2(WDR62):c.423T>C (p.Asp141=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GConflicting classifications of pathogenicity
Select item 2438579	NM_001083961.2(WDR62):c.460C>T (p.His154Tyr)	WDR62 (H154Y)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2139714	NM_001083961.2(WDR62):c.571G>A (p.Val191Ile)	WDR62 (V191I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690449	NM_001083961.2(WDR62):c.1024G>A (p.Ala342Thr)	WDR62 (A342T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160243	NM_001083961.2(WDR62):c.1043+3A>G	WDR62	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1325360	NM_001083961.2(WDR62):c.1194G>A (p.Trp398Ter)	WDR62 (W398*)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 167848	NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)	WDR62 (V410L)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GConflicting classifications of pathogenicity
Select item 1187007	NM_001083961.2(WDR62):c.1234-1G>A	WDR62	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 41	NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)	WDR62 (E526K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2438580	NM_001083961.2(WDR62):c.1892T>C (p.Leu631Ser)	WDR62 (L514S +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2438578	NM_001083961.2(WDR62):c.1906A>C (p.Ile636Leu)	WDR62 (I519L +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 598371	NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)	WDR62 (K664del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2438582	NM_001083961.2(WDR62):c.2284C>T (p.Arg762Trp)	WDR62 (R645W +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2438583	NM_001083961.2(WDR62):c.2418T>G (p.Cys806Trp)	WDR62 (C689W +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 31042	NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)	WDR62 (Q918fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2434642	NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)	WDR62 (Q1025* +4 more)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 1336504	NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr)	WDR62 (A1152T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +3 more	GUncertain significance
Select item 2690780	NM_001083961.2(WDR62):c.3711_3714del (p.Ser1237fs)	WDR62 (S1120fs +3 more)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic

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Items: 20