"OMIM"[submitter] AND "GEMIN4"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183310	NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg)	GEMIN4 (W818R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GLikely pathogenic
Select item 1809605	NM_015721.3(GEMIN4):c.314C>T (p.Pro105Leu)	GEMIN4 (P105L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GPathogenic