"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126860582"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1571842	NM_001379081.2(FREM1):c.2811G>A (p.Gly937=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GLikely benign
Select item 366139	NM_001379081.2(FREM1):c.2795G>A (p.Arg932His)	FREM1, LOC126860582 (R932H)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +4 more	GUncertain significance