"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GFER"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214470	NM_005262.3(GFER):c.189G>C (p.Glu63Asp)	GFER, LOC130058203 (E63D)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +2 more	GConflicting classifications of pathogenicity
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 559179	NM_005262.3(GFER):c.457C>T (p.Leu153=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 559180	NM_005262.3(GFER):c.496T>C (p.Phe166Leu)	GFER (F166L)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 559181	NM_005262.3(GFER):c.588C>T (p.Arg196=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GBenign

ClinVar