"Ambry Genetics"[submitter] AND "RAB33B"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2386929	NM_031296.3(RAB33B):c.14T>C (p.Met5Thr)	RAB33B (M5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475828	NM_031296.3(RAB33B):c.94C>T (p.Arg32Cys)	RAB33B (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 347561	NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser)	RAB33B (N43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2305820	NM_031296.3(RAB33B):c.218G>T (p.Arg73Leu)	LOC129993110, RAB33B (R73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1357538	NM_031296.3(RAB33B):c.337G>A (p.Val113Met)	RAB33B (V113M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2321410	NM_031296.3(RAB33B):c.403C>T (p.His135Tyr)	RAB33B (H135Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406269	NM_031296.3(RAB33B):c.427C>T (p.Arg143Trp)	RAB33B (R143W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266985	NM_031296.3(RAB33B):c.562G>A (p.Val188Met)	RAB33B (V188M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1347695	NM_031296.3(RAB33B):c.573A>G (p.Ile191Met)	RAB33B (I191M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance