"Ambry Genetics"[submitter] AND "RAB5B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2542142	NM_002868.4(RAB5B):c.29A>G (p.Asn10Ser)	RAB5B (N10S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150815	NM_002868.4(RAB5B):c.46A>G (p.Ser16Gly)	RAB5B (S16G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559326	NM_002868.4(RAB5B):c.283G>A (p.Ala95Thr)	RAB5B (A176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312202	NM_002868.4(RAB5B):c.373A>G (p.Ser125Gly)	RAB5B (S125G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347145	NM_002868.4(RAB5B):c.448G>C (p.Ala150Pro)	RAB5B (A231P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334145	NM_002868.4(RAB5B):c.557C>T (p.Pro186Leu)	RAB5B (P267L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349267	NM_002868.4(RAB5B):c.562A>G (p.Asn188Asp)	RAB5B (N147D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar