"Genomics England Pilot Project, Genomics England"[submitter] AND "GFE - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184607	NM_005262.3(GFER):c.575A>G (p.Asp192Gly)	GFER (D192G)	Single nucleotide variant (missense 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