C2751320[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559178	NM_005262.3(GFER):c.217del (p.Ala73fs)	GFER, LOC130058203 (A73fs)	Deletion (frameshift variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GPathogenic
Select item 8691	NM_005262.3(GFER):c.581G>A (p.Arg194His)	GFER (R194H)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +2 more	GPathogenic