ClinVar for MedGen (Select 1844131) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 97004	NM_001271803.2(REEP2):c.215T>A (p.Phe72Tyr)	REEP2 (F72Y)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 72b, autosomal recessive	GPathogenic
Select item 97003	NM_001271803.2(REEP2):c.105+3G>T	REEP2	Single nucleotide variant (intron variant)	Spastic paraplegia 72b, autosomal recessive	GPathogenic