"Revvity Omics, Revvity"[submitter] AND "EMC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324328	NM_015047.3(EMC1):c.2674G>T (p.Glu892Ter)	EMC1, EMC1-AS1 (E870* +4 more)	Single nucleotide variant (nonsense)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GLikely pathogenic
Select item 985310	NM_015047.3(EMC1):c.2377-2A>G	EMC1, EMC1-AS1	Single nucleotide variant (splice acceptor variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GConflicting classifications of pathogenicity
Select item 2441217	NM_015047.3(EMC1):c.2300G>T (p.Gly767Val)	EMC1, EMC1-AS1 (G745V +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GUncertain significance
Select item 940851	NM_015047.3(EMC1):c.1150C>T (p.Arg384Trp)	EMC1, EMC1-AS1 (R362W +2 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +2 more	GUncertain significance
Select item 1467349	NM_015047.3(EMC1):c.323G>A (p.Arg108His)	EMC1 (R108H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441216	NM_015047.3(EMC1):c.186G>A (p.Val62=)	EMC1	Single nucleotide variant (synonymous variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GUncertain significance

ClinVar