RAB27A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 151013	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3	CCPG1, DNAAF4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 369092	NM_183235.2(RAB27A):c.*2554C>T	RAB27A	Single nucleotide variant	Griscelli syndrome	GBenign
Select item 886753	NM_183235.3(RAB27A):c.*2415T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316607	NM_183235.3(RAB27A):c.*2349A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 888019	NM_183235.3(RAB27A):c.*2343G>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316608	NM_183235.3(RAB27A):c.*2334C>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316609	NM_183235.3(RAB27A):c.2241_2247del	RAB27A	Deletion (3 prime UTR variant)	Griscelli syndrome	GUncertain significance
Select item 888020	NM_183235.3(RAB27A):c.*2216A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GLikely benign
Select item 888021	NM_183235.3(RAB27A):c.*2160A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GLikely benign
Select item 888022	NM_183235.3(RAB27A):c.*2135C>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316610	NM_183235.3(RAB27A):c.*2067C>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 888023	NM_183235.3(RAB27A):c.*2031C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316611	NM_183235.3(RAB27A):c.*2007G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316612	NM_183235.3(RAB27A):c.*1931T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316613	NM_183235.3(RAB27A):c.*1926T>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
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 884894	NM_183235.3(RAB27A):c.*1919A>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 884895	NM_183235.3(RAB27A):c.*1915A>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 884896	NM_183235.3(RAB27A):c.*1904A>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316616	NM_183235.3(RAB27A):c.*1878T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 885816	NM_183235.3(RAB27A):c.*1863C>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316617	NM_183235.3(RAB27A):c.*1863C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 885817	NM_183235.3(RAB27A):c.*1842C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316618	NM_183235.3(RAB27A):c.*1742A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316619	NM_183235.3(RAB27A):c.*1678T>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316620	NM_183235.3(RAB27A):c.*1672T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 885818	NM_183235.3(RAB27A):c.*1669A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316621	NM_183235.3(RAB27A):c.*1662A>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316622	NM_183235.3(RAB27A):c.*1647T>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316623	NM_183235.3(RAB27A):c.*1612dup	RAB27A	Duplication (3 prime UTR variant)	Griscelli syndrome	GUncertain significance
Select item 886823	NM_183235.3(RAB27A):c.*1598A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316624	NM_183235.3(RAB27A):c.*1594A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 886824	NM_183235.3(RAB27A):c.*1546T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 886825	NM_183235.3(RAB27A):c.*1493T>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GLikely benign
Select item 316625	NM_183235.3(RAB27A):c.*1485G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316626	NM_183235.3(RAB27A):c.*1473T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316627	NM_183235.3(RAB27A):c.*1427G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316628	NM_183235.3(RAB27A):c.*1418T>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316629	NM_183235.3(RAB27A):c.*1392A>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316630	NM_183235.3(RAB27A):c.*1296T>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 888098	NM_183235.3(RAB27A):c.*1172T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316631	NM_183235.3(RAB27A):c.*1170T>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316632	NM_183235.3(RAB27A):c.*1156T>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 888099	NM_183235.3(RAB27A):c.*1110A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 888100	NM_183235.3(RAB27A):c.*1013T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316633	NM_183235.3(RAB27A):c.*949A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316634	NM_183235.3(RAB27A):c.*936C>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316635	NM_183235.3(RAB27A):c.*858G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 884970	NM_183235.3(RAB27A):c.*854A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316636	NM_183235.3(RAB27A):c.*852C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316637	NM_183235.3(RAB27A):c.*842G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 884971	NM_183235.3(RAB27A):c.*814G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316638	NM_183235.3(RAB27A):c.*731G>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 316639	NM_183235.3(RAB27A):c.*730T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 885880	NM_183235.3(RAB27A):c.*725C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GLikely benign
Select item 316640	NM_183235.3(RAB27A):c.*723C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 885881	NM_183235.3(RAB27A):c.*668A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GLikely benign
Select item 885882	NM_183235.3(RAB27A):c.*595G>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316641	NM_183235.3(RAB27A):c.*561A>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 885883	NM_183235.3(RAB27A):c.*472A>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 885884	NM_183235.3(RAB27A):c.*457A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 885885	NM_183235.3(RAB27A):c.*429C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	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 886874	NM_183235.3(RAB27A):c.*415C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316643	NM_183235.3(RAB27A):c.*388G>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316644	NM_183235.3(RAB27A):c.*387A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GBenign
Select item 886875	NM_183235.3(RAB27A):c.*370T>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316645	NM_183235.3(RAB27A):c.*162G>C	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 886876	NM_183235.3(RAB27A):c.*132G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GLikely benign
Select item 886877	NM_183235.3(RAB27A):c.*131C>T	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316646	NM_183235.3(RAB27A):c.*121A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 888154	NM_183235.3(RAB27A):c.*28A>G	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
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 888155	NM_183235.3(RAB27A):c.*9G>A	RAB27A	Single nucleotide variant (3 prime UTR variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2137715	NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)	RAB27A (C221Y)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2621312	NM_183235.3(RAB27A):c.653C>A (p.Ala218Glu)	RAB27A (A218E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 858465	NM_183235.3(RAB27A):c.652G>A (p.Ala218Thr)	RAB27A (A218T)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2078065	NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)	RAB27A (E213fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 1424911	NM_183235.3(RAB27A):c.636A>C (p.Glu212Asp)	RAB27A (E212D)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1484982	NM_183235.3(RAB27A):c.627G>C (p.Gln209His)	RAB27A (Q209H)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 575435	NM_183235.3(RAB27A):c.621G>A (p.Thr207=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2116557	NM_183235.3(RAB27A):c.619dup (p.Thr207fs)	RAB27A (T207fs)	Duplication (frameshift variant)	Griscelli syndrome type 2	GUncertain significance
Select item 574733	NM_183235.3(RAB27A):c.620C>T (p.Thr207Met)	RAB27A (T207M)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 852095	NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser)	RAB27A (A205S)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2 +1 more	GUncertain significance
Select item 3002336	NM_183235.3(RAB27A):c.612T>C (p.His204=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1694161	NM_183235.3(RAB27A):c.609T>C (p.Gly203=)	RAB27A	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 2283959	NM_183235.3(RAB27A):c.599G>A (p.Arg200Gln)	RAB27A (R200Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1664964	NM_183235.3(RAB27A):c.597G>A (p.Val199=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1694160	NM_183235.3(RAB27A):c.596T>A (p.Val199Glu)	RAB27A (V199E)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1039803	NM_183235.3(RAB27A):c.596T>C (p.Val199Ala)	RAB27A (V199A)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 468591	NM_183235.3(RAB27A):c.594G>A (p.Val198=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2 +2 more	GBenign/Likely benign
Select item 1021357	NM_183235.3(RAB27A):c.593T>C (p.Val198Ala)	RAB27A (V198A)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2283873	NM_183235.3(RAB27A):c.592G>A (p.Val198Met)	RAB27A (V198M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2110878	NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)	RAB27A (V198L)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1953396	NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)	RAB27A (D190N)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance

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