"OMIM"[submitter] AND "RAB27A"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 1690307	NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter)	RAB27A (R200*)	Single nucleotide variant (nonsense)	Griscelli syndrome type 2	GPathogenic
Select item 436458	NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)	RAB27A (R184*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +2 more	GPathogenic
Select item 1690310	NM_183235.3(RAB27A):c.467+5G>A	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GPathogenic
Select item 582014	NM_183235.3(RAB27A):c.467+1G>C	RAB27A	Single nucleotide variant (splice donor variant)	Griscelli syndrome type 2 +1 more	GPathogenic/Likely pathogenic
Select item 5987	NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro)	RAB27A (A152P)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GPathogenic
Select item 1690308	NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu)	RAB27A (K134E)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GPathogenic
Select item 5986	NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro)	RAB27A (L130P)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GPathogenic
Select item 5990	NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)	RAB27A (Q118*)	Single nucleotide variant (nonsense)	Griscelli syndrome type 2 +1 more	GPathogenic
Select item 5991	NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)	RAB27A (A87P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 5983	NM_183235.3(RAB27A):c.239+3A>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 5982	NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly)	RAB27A (W73G)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GPathogenic
Select item 1690309	NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile)	RAB27A (F46I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 5988	NM_183235.3(RAB27A):c.53_54del (p.Ser18fs)	RAB27A (S18fs)	Microsatellite (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 1690311	NC_000015.9:g.55514530_55552423dup	RAB27A	Duplication	Griscelli syndrome type 2	GPathogenic
Select item 5985	NG_009103.1:g.(13486_?)_(?_81610)del	RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic