ClinVar for MedGen (Select 461558) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143163	NM_152443.3(RDH12):c.778del (p.Glu260fs)	GPHN, RDH12 +1 more (E260fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 2061	NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	GPHN, RDH12 (A126V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GConflicting classifications of pathogenicity