C4225172[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1166901	NM_015047.3(EMC1):c.2377-15C>G	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GBenign
Select item 1255381	NM_015047.3(EMC1):c.2376+26A>G	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166963	NM_015047.3(EMC1):c.1090-17G>C	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GBenign
Select item 1170881	NM_015047.3(EMC1):c.1040G>A (p.Ser347Asn)	EMC1, EMC1-AS1 (S325N +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GBenign
Select item 1166517	NM_015047.3(EMC1):c.1034G>C (p.Ser345Thr)	EMC1, EMC1-AS1 (S323T +2 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +2 more	GBenign
Select item 1170216	NM_015047.3(EMC1):c.954+16A>G	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167484	NM_015047.3(EMC1):c.696G>A (p.Glu232=)	EMC1, EMC1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +2 more	GBenign
Select item 1166518	NM_015047.3(EMC1):c.381-5T>C	EMC1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GBenign

ClinVar