"PreventionGenetics, part of Exact Sciences"[submitter] AND "RAB18"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 299814	NM_021252.5(RAB18):c.36C>A (p.Leu12=)	LOC130003565, RAB18	Single nucleotide variant (synonymous variant +1 more)	RAB18-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3041076	NM_021252.5(RAB18):c.174A>G (p.Lys58=)	RAB18	Single nucleotide variant (synonymous variant)	RAB18-related disorder	GLikely benign
Select item 299816	NM_021252.5(RAB18):c.260-7dup	RAB18	Duplication (intron variant)	Warburg micro syndrome +4 more	GBenign
Select item 130058	NM_021252.5(RAB18):c.264T>C (p.Tyr88=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	RAB18-related disorder +2 more	GBenign/Likely benign
Select item 299817	NM_021252.5(RAB18):c.270C>A (p.Val90=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	RAB18-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3030343	NM_021252.5(RAB18):c.379-2A>G	RAB18	Single nucleotide variant (splice acceptor variant +1 more)	RAB18-related disorder	GUncertain significance
Select item 3029842	NM_021252.5(RAB18):c.393C>T (p.Val131=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	RAB18-related disorder	GLikely benign
Select item 713649	NM_021252.5(RAB18):c.501A>G (p.Glu167=)	RAB18 (K145R)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130059	NM_021252.5(RAB18):c.592G>A (p.Ala198Thr)	RAB18 (A198T +2 more)	Single nucleotide variant (missense variant +2 more)	RAB18-related disorder +3 more	GBenign