"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EMC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 774792	NM_015047.3(EMC1):c.2886C>T (p.Tyr962=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1150866	NM_015047.3(EMC1):c.2065-4C>T	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GLikely benign
Select item 1041692	NM_015047.3(EMC1):c.1492T>C (p.Trp498Arg)	EMC1, EMC1-AS1 (W498R +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GUncertain significance
Select item 1170013	NM_015047.3(EMC1):c.884T>C (p.Leu295Ser)	EMC1, EMC1-AS1 (L273S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GBenign/Likely benign
Select item 1170790	NM_015047.3(EMC1):c.787-13T>C	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GBenign/Likely benign
Select item 1451909	NM_015047.3(EMC1):c.426C>A (p.Tyr142Ter)	EMC1 (Y142* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar