C4225172[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500965	NM_015047.3(EMC1):c.2588-771C>G	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GUncertain significance
Select item 445564	NM_015047.3(EMC1):c.287-1G>A	EMC1	Single nucleotide variant (splice acceptor variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GLikely pathogenic