"Ambry Genetics"[submitter] AND "RAB42"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2375963	NM_001193532.3(RAB42):c.67A>C (p.Thr23Pro)	RAB42 (T23P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492327	NM_001193532.3(RAB42):c.103G>A (p.Gly35Ser)	RAB42 (G35S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385495	NM_001193532.3(RAB42):c.181G>A (p.Gly61Arg)	RAB42 (G61R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595056	NM_001193532.3(RAB42):c.257G>A (p.Arg86Gln)	RAB42 (R86Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2307432	NM_001193532.3(RAB42):c.469G>C (p.Glu157Gln)	RAB42 (E157Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616386	NM_001193532.3(RAB42):c.593T>C (p.Ile198Thr)	RAB42 (I85T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412008	NM_001193532.3(RAB42):c.617C>A (p.Ser206Tyr)	RAB42 (S93Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar