ClinVar for MedGen (Select 865739) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156220	NM_001024613.4(FEZF1):c.653del (p.Phe218fs)	FEZF1, FEZF1-AS1 (F168fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hypogonadotropic hypogonadism 22 with anosmia	GPathogenic
Select item 156219	NM_001024613.4(FEZF1):c.832C>T (p.His278Tyr)	FEZF1 (H278Y +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 22 with anosmia	GPathogenic