C0398794[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369092	NM_183235.2(RAB27A):c.*2554C>T	RAB27A	Single nucleotide variant	Griscelli syndrome	GBenign
Select item 316609	NM_183235.3(RAB27A):c.2241_2247del	RAB27A	Deletion (3 prime UTR variant)	Griscelli syndrome	GUncertain significance
Select item 316614	NM_183235.3(RAB27A):c.1922_1923insTAA	RAB27A	Insertion (3 prime UTR variant)	Griscelli syndrome	GUncertain significance
Select item 316615	NM_183235.3(RAB27A):c.1915_1920delinsTAAATAAAT	RAB27A	Indel (3 prime UTR variant)	Griscelli syndrome	GUncertain significance
Select item 316623	NM_183235.3(RAB27A):c.*1612dup	RAB27A	Duplication (3 prime UTR variant)	Griscelli syndrome	GUncertain significance
Select item 316642	NM_183235.3(RAB27A):c.*425G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome	GUncertain significance
Select item 316648	NM_183235.3(RAB27A):c.343+3_343+6del	RAB27A	Microsatellite (splice donor variant)	Griscelli syndrome type 2 +1 more	GUncertain significance

ClinVar