"Revvity Omics, Revvity"[submitter] AND "GEMIN4"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638472	NM_015721.3(GEMIN4):c.3094C>T (p.Gln1032Ter)	GEMIN4 (Q1032*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2221084	NM_015721.3(GEMIN4):c.3068G>A (p.Ser1023Asn)	GEMIN4 (S1023N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2432105	NM_015721.3(GEMIN4):c.3032G>A (p.Cys1011Tyr)	GEMIN4 (C1011Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2432106	NM_015721.3(GEMIN4):c.2569C>G (p.Leu857Val)	GEMIN4 (L857V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2432103	NM_015721.3(GEMIN4):c.1406G>A (p.Arg469Lys)	GEMIN4 (R469K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2432102	NM_015721.3(GEMIN4):c.1405A>G (p.Arg469Gly)	GEMIN4 (R469G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2432104	NM_015721.3(GEMIN4):c.272G>A (p.Arg91Gln)	GEMIN4 (R91Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance