"Ambry Genetics"[submitter] AND "RAB28"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150663	NM_001017979.3(RAB28):c.584A>C (p.Lys195Thr)	RAB28 (K195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1463919	NM_001017979.3(RAB28):c.538A>C (p.Ile180Leu)	RAB28 (I180L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2609208	NM_001017979.3(RAB28):c.532C>G (p.Leu178Val)	RAB28 (L178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 854790	NM_001017979.3(RAB28):c.527A>G (p.Glu176Gly)	RAB28 (E176G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3150662	NM_001017979.3(RAB28):c.472G>A (p.Val158Ile)	RAB28 (V158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337442	NM_001017979.3(RAB28):c.433T>G (p.Leu145Val)	RAB28 (L145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1348248	NM_001017979.3(RAB28):c.190C>T (p.Leu64Phe)	RAB28 (L64F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3150661	NM_001017979.3(RAB28):c.162A>G (p.Ile54Met)	RAB28 (I54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331889	NM_001017979.3(RAB28):c.136G>A (p.Gly46Arg)	RAB28 (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150660	NM_001017979.3(RAB28):c.115A>G (p.Lys39Glu)	RAB28 (K39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150659	NM_001017979.3(RAB28):c.112G>A (p.Gly38Arg)	RAB28 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1981132	NM_001017979.3(RAB28):c.89C>T (p.Thr30Met)	RAB28 (T30M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 955113	NM_001017979.3(RAB28):c.22A>T (p.Ser8Cys)	LOC111828517, RAB28 (S8C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3312122	NM_001017979.3(RAB28):c.17A>C (p.Glu6Ala)	LOC111828517, RAB28 (E6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance