"Ambry Genetics"[submitter] AND "RAB5C"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2292104	NM_004583.4(RAB5C):c.619C>T (p.Pro207Ser)	RAB5C (P207S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311340	NM_004583.4(RAB5C):c.557A>T (p.Glu186Val)	RAB5C (E219V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618690	NM_004583.4(RAB5C):c.337A>C (p.Lys113Gln)	RAB5C (K113Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486477	NM_004583.4(RAB5C):c.302A>G (p.Tyr101Cys)	RAB5C (Y101C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342146	NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg)	RAB5C (Q113R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2239682	NM_004583.4(RAB5C):c.20C>T (p.Ala7Val)	RAB5C (A7V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523312	NM_004583.4(RAB5C):c.19G>A (p.Ala7Thr)	RAB5C (A40T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar