"Ambry Genetics"[submitter] AND "REEP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614166	NM_001271803.2(REEP2):c.313G>A (p.Glu105Lys)	REEP2 (E105K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985737	NM_001271803.2(REEP2):c.422A>T (p.Gln141Leu)	REEP2 (Q141L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1495314	NM_001271803.2(REEP2):c.517C>T (p.Arg173Cys)	REEP2 (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72 +1 more	GUncertain significance
Select item 855522	NM_001271803.2(REEP2):c.524G>A (p.Arg175Gln)	REEP2 (R173Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72 +1 more	GUncertain significance
Select item 2052458	NM_001271803.2(REEP2):c.617G>A (p.Arg206Gln)	REEP2 (R206Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72 +1 more	GUncertain significance
Select item 2482713	NM_001271803.2(REEP2):c.725G>C (p.Arg242Pro)	REEP2 (R242P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210183	NM_001271803.2(REEP2):c.725G>T (p.Arg242Leu)	REEP2 (R242L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar