"PreventionGenetics, part of Exact Sciences"[submitter] AND "RAB27A"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259442	NM_183235.3(RAB27A):c.*14C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2 +2 more	GBenign
Select item 235346	NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln)	RAB27A (R187Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 665149	NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)	RAB27A (A173G)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2 +1 more	GUncertain significance
Select item 417958	NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)	RAB27A (Q172fs)	Deletion (frameshift variant)	Griscelli syndrome type 2 +2 more	GPathogenic
Select item 259445	NM_183235.3(RAB27A):c.343+33A>G	RAB27A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2167097	NM_183235.3(RAB27A):c.343+10A>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2 +1 more	GLikely benign
Select item 419794	NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	RAB27A (R82C)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2 +3 more	GPathogenic/Likely pathogenic
Select item 259444	NM_183235.3(RAB27A):c.240-21A>G	RAB27A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 259443	NM_183235.3(RAB27A):c.154-40G>C	RAB27A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3036071	NM_183235.3(RAB27A):c.96T>C (p.Gly32=)	RAB27A	Single nucleotide variant (synonymous variant)	RAB27A-related disorder	GLikely benign