5873[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 578811.	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 GRCh37: Chr15:51157110-59938776 GRCh38: Chr15:50864913-59646577	LOC130057143, LOC130057144, LOC130057145, LOC130057146, LOC130057147, LOC130057148, LOC130057149, LOC130057150, LOC130057151, LOC130057152, LOC130057153, LOC130057154, LOC130057155, LOC130057156, LOC130057157, LOC130057158, LOC130057159, LOC130057160, LOC130057161, LOC130057162, LOC130057163, LOC130057164, LOC130057165, LOC130057166, LOC130057167, LOC130057168, LOC130057169, LOC130057170, LOC130057171, LOC130057172, LOC130057173, LOC130057174, LOC130057175, LOC130057176, LOC130057177, LOC130057178, LOC130057179, LOC130057180, LOC130057181, LOC130057182, LOC130057183, LOC130057184, LOC130057185, LOC130057186, LOC132090303, LOC132090304, LOC132090305, LOC132090306, LOC132090307, LOC132090308, LOC132090309, LOC132090310, LOC132090311, LOC132090312, LOC132090313, LOC132090314, LOC132090315, LOC132090316, LOC132090317, LOC132090318, LOC132090319, LOC132090320, LOC132090321, LOC132090879, LOC132090880, LYSMD2, MAPK6, MAPK6-DT, MINDY2, MINDY2-DT, MIR1266, MIR2116, MIR4713, MIR4713HG, MIR628, MIR7973-1, MIR7973-2, MNS1, MYO1E, MYO5A, MYO5C, MYZAP, NEDD4, ONECUT1, PIERCE2, PIGB, PIGBOS1, PIRC66, POLR2M, PRTG, PYGO1, RAB27A, RFX7, RNF111, RSL24D1, SCG3, SLTM, SNORD13D, TCF12, TCF12-DT, TEX9, TMOD2, TMOD3, TNFAIP8L3, UNC13C, WDR72, ZNF280D, ADAM10, ALDH1A2, ALDH1A2-AS1, AP4E1, AQP9, ARPP19, ATOSA, BCL2L10, CCNB2, CCPG1, CERNA1, CGNL1, CYP19A1, DMXL2, DNAAF4, DNAAF4-CCPG1, FAM81A, GCNT3, GCOM1, GLDN, GNB5, GTF2A2, LDHAL6B, LEO1, LINC00926, LINC01413, LINC02490, LINC03065, LIPC, LIPC-AS1, LOC101928499, LOC105370829, LOC108281154, LOC108281179, LOC110120859, LOC110120911, LOC110386947, LOC110386948, LOC110386949, LOC110386951, LOC111822948, LOC112272593, LOC112272594, LOC112272596, LOC112272597, LOC112272598, LOC112272599, LOC112272600, LOC116268465, LOC116268466, LOC120807607, LOC121530581, LOC121530582, LOC121530583, LOC121530584, LOC121847949, LOC121847950, LOC121847951, LOC121847952, LOC125078080, LOC125078081, LOC125078082, LOC125078083, LOC125078084, LOC125078085, LOC125078086, LOC125078087, LOC125078088, LOC126862131, LOC126862132, LOC126862133, LOC126862134, LOC126862135, LOC126862136, LOC126862137, LOC126862138, LOC126862139, LOC126862140, LOC126862141, LOC126862142, LOC129390702, LOC129390703, LOC129390704, LOC129390705, LOC129390706, LOC129390707, LOC129390708, LOC129390709, LOC130057049, LOC130057050, LOC130057051, LOC130057052, LOC130057053, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LOC130057065, LOC130057066, LOC130057067, LOC130057068, LOC130057069, LOC130057070, LOC130057071, LOC130057072, LOC130057073, LOC130057074, LOC130057075, LOC130057076, LOC130057077, LOC130057078, LOC130057079, LOC130057080, LOC130057081, LOC130057082, LOC130057083, LOC130057084, LOC130057085, LOC130057086, LOC130057087, LOC130057088, LOC130057089, LOC130057090, LOC130057091, LOC130057092, LOC130057093, LOC130057094, LOC130057095, LOC130057096, LOC130057097, LOC130057098, LOC130057099, LOC130057100, LOC130057101, LOC130057102, LOC130057103, LOC130057104, LOC130057105, LOC130057106, LOC130057107, LOC130057108, LOC130057109, LOC130057110, LOC130057111, LOC130057112, LOC130057113, LOC130057114, LOC130057115, LOC130057116, LOC130057117, LOC130057118, LOC130057119, LOC130057120, LOC130057121, LOC130057122, LOC130057123, LOC130057124, LOC130057125, LOC130057126, LOC130057127, LOC130057128, LOC130057129, LOC130057130, LOC130057131, LOC130057132, LOC130057133, LOC130057134, LOC130057135, LOC130057136, LOC130057137, LOC130057138, LOC130057139, LOC130057140, LOC130057141, LOC130057142		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1474812.	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 GRCh37: Chr15:51568887-57380584 GRCh38: Chr15:51276690-57088386	ARPP19, ATOSA, BCL2L10, CCPG1, CERNA1, CYP19A1, DMXL2, DNAAF4, DNAAF4-CCPG1, GLDN, GNB5, LEO1, LINC02490, LINC03065, LOC101928499, LOC105370829, LOC108281154, LOC108281179, LOC110386947, LOC110386948, LOC110386949, LOC112272596, LOC112272597, LOC116268465, LOC116268466, LOC120807607, LOC121530581, LOC121530582, LOC121530583, LOC121530584, LOC121847949, LOC121847950, LOC125078080, LOC125078081, LOC125078082, LOC125078083, LOC126862131, LOC126862132, LOC126862133, LOC126862134, LOC126862135, LOC126862136, LOC129390703, LOC129390704, LOC129390705, LOC129390706, LOC130057052, LOC130057053, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LOC130057065, LOC130057066, LOC130057067, LOC130057068, LOC130057069, LOC130057070, LOC130057071, LOC130057072, LOC130057073, LOC130057074, LOC130057075, LOC130057076, LOC130057077, LOC130057078, LOC130057079, LOC130057080, LOC130057081, LOC130057082, LOC130057083, LOC130057084, LOC130057085, LOC130057086, LOC130057087, LOC130057088, LOC130057089, LOC130057090, LOC130057091, LOC130057092, LOC130057093, LOC130057094, LOC130057095, LOC130057096, LOC130057097, LOC130057098, LOC130057099, LOC130057100, LOC130057101, LOC130057102, LOC130057103, LOC130057104, LOC130057105, LOC130057106, LOC130057107, LOC130057108, LOC130057109, LOC130057110, LOC130057111, LOC130057112, LOC130057113, LOC130057114, LOC130057115, LOC130057116, LOC130057117, LOC130057118, LOC130057119, LOC130057120, LOC130057121, LOC130057122, LOC130057123, LOC130057124, LOC130057125, LOC130057126, LOC130057127, LOC130057128, LOC130057129, LOC130057130, LOC130057131, LOC132090303, LOC132090304, LOC132090305, LOC132090306, LOC132090307, LOC132090308, LOC132090309, LOC132090310, LOC132090311, LOC132090312, LOC132090313, LOC132090314, LOC132090315, LOC132090316, LOC132090317, LOC132090318, LOC132090319, LOC132090320, LOC132090321, LOC132090879, LOC132090880, LYSMD2, MAPK6, MAPK6-DT, MIR1266, MIR4713HG, MIR628, MIR7973-1, MIR7973-2, MNS1, MYO5A, MYO5C, NEDD4, ONECUT1, PIERCE2, PIGB, PIGBOS1, PIRC66, PRTG, PYGO1, RAB27A, RFX7, RSL24D1, SCG3, TCF12, TCF12-DT, TEX9, TMOD2, TMOD3, UNC13C, WDR72, ZNF280D		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1510133.	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3 GRCh37: Chr15:55290499-56041334 GRCh38: Chr15:54998301-55749136	CCPG1, DNAAF4, DNAAF4-CCPG1, LOC105370829, LOC112272597, LOC121530583, LOC130057099, LOC130057100, LOC130057101, LOC130057102, LOC130057103, LOC130057104, LOC130057105, LOC130057106, LOC130057107, LOC130057108, LOC130057109, LOC130057110, LOC130057111, LOC130057112, LOC130057113, LOC132090316, MIR628, PIERCE2, PIGB, PIGBOS1, PRTG, PYGO1, RAB27A, RSL24D1		See cases	Uncertain significance (Jun 11, 2012)	no assertion criteria provided
Select item 3690924.	NM_183235.2(RAB27A):c.*2554C>T GRCh37: Chr15:55495151 GRCh38: Chr15:55202953	RAB27A		Griscelli syndrome	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 8867535.	NM_183235.3(RAB27A):c.*2415T>C GRCh37: Chr15:55495290 GRCh38: Chr15:55203092	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3166076.	NM_183235.3(RAB27A):c.*2349A>G GRCh37: Chr15:55495356 GRCh38: Chr15:55203158	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8880197.	NM_183235.3(RAB27A):c.*2343G>C GRCh37: Chr15:55495362 GRCh38: Chr15:55203164	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3166088.	NM_183235.3(RAB27A):c.*2334C>A GRCh37: Chr15:55495371 GRCh38: Chr15:55203173	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3166099.	NM_183235.3(RAB27A):c.2241_2247del GRCh37: Chr15:55495458-55495464 GRCh38: Chr15:55203260-55203266	RAB27A		Griscelli syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88802010.	NM_183235.3(RAB27A):c.*2216A>G GRCh37: Chr15:55495489 GRCh38: Chr15:55203291	RAB27A		Griscelli syndrome type 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88802111.	NM_183235.3(RAB27A):c.*2160A>G GRCh37: Chr15:55495545 GRCh38: Chr15:55203347	RAB27A		Griscelli syndrome type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88802212.	NM_183235.3(RAB27A):c.*2135C>A GRCh37: Chr15:55495570 GRCh38: Chr15:55203372	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31661013.	NM_183235.3(RAB27A):c.*2067C>G GRCh37: Chr15:55495638 GRCh38: Chr15:55203440	RAB27A		Griscelli syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88802314.	NM_183235.3(RAB27A):c.*2031C>T GRCh37: Chr15:55495674 GRCh38: Chr15:55203476	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31661115.	NM_183235.3(RAB27A):c.*2007G>A GRCh37: Chr15:55495698 GRCh38: Chr15:55203500	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31661216.	NM_183235.3(RAB27A):c.*1931T>C GRCh37: Chr15:55495774 GRCh38: Chr15:55203576	RAB27A		Griscelli syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31661317.	NM_183235.3(RAB27A):c.*1926T>A GRCh37: Chr15:55495779 GRCh38: Chr15:55203581	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31661418.	NM_183235.3(RAB27A):c.1922_1923insTAA GRCh37: Chr15:55495782-55495783 GRCh38: Chr15:55203584-55203585	RAB27A		Griscelli syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31661519.	NM_183235.3(RAB27A):c.1915_1920delinsTAAATAAAT GRCh37: Chr15:55495785-55495790 GRCh38: Chr15:55203587-55203592	RAB27A		Griscelli syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88489420.	NM_183235.3(RAB27A):c.*1919A>T GRCh37: Chr15:55495786 GRCh38: Chr15:55203588	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88489521.	NM_183235.3(RAB27A):c.*1915A>T GRCh37: Chr15:55495790 GRCh38: Chr15:55203592	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88489622.	NM_183235.3(RAB27A):c.*1904A>T GRCh37: Chr15:55495801 GRCh38: Chr15:55203603	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31661623.	NM_183235.3(RAB27A):c.*1878T>C GRCh37: Chr15:55495827 GRCh38: Chr15:55203629	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88581624.	NM_183235.3(RAB27A):c.*1863C>G GRCh37: Chr15:55495842 GRCh38: Chr15:55203644	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31661725.	NM_183235.3(RAB27A):c.*1863C>T GRCh37: Chr15:55495842 GRCh38: Chr15:55203644	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88581726.	NM_183235.3(RAB27A):c.*1842C>T GRCh37: Chr15:55495863 GRCh38: Chr15:55203665	RAB27A		Griscelli syndrome type 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 31661827.	NM_183235.3(RAB27A):c.*1742A>G GRCh37: Chr15:55495963 GRCh38: Chr15:55203765	RAB27A		Griscelli syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31661928.	NM_183235.3(RAB27A):c.*1678T>A GRCh37: Chr15:55496027 GRCh38: Chr15:55203829	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31662029.	NM_183235.3(RAB27A):c.*1672T>C GRCh37: Chr15:55496033 GRCh38: Chr15:55203835	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88581830.	NM_183235.3(RAB27A):c.*1669A>G GRCh37: Chr15:55496036 GRCh38: Chr15:55203838	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31662131.	NM_183235.3(RAB27A):c.*1662A>T GRCh37: Chr15:55496043 GRCh38: Chr15:55203845	RAB27A		Griscelli syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31662232.	NM_183235.3(RAB27A):c.*1647T>G GRCh37: Chr15:55496058 GRCh38: Chr15:55203860	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31662333.	NM_183235.3(RAB27A):c.*1612dup GRCh37: Chr15:55496092-55496093 GRCh38: Chr15:55203894-55203895	RAB27A		Griscelli syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88682334.	NM_183235.3(RAB27A):c.*1598A>G GRCh37: Chr15:55496107 GRCh38: Chr15:55203909	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31662435.	NM_183235.3(RAB27A):c.*1594A>G GRCh37: Chr15:55496111 GRCh38: Chr15:55203913	RAB27A		Griscelli syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88682436.	NM_183235.3(RAB27A):c.*1546T>C GRCh37: Chr15:55496159 GRCh38: Chr15:55203961	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88682537.	NM_183235.3(RAB27A):c.*1493T>A GRCh37: Chr15:55496212 GRCh38: Chr15:55204014	RAB27A		Griscelli syndrome type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31662538.	NM_183235.3(RAB27A):c.*1485G>A GRCh37: Chr15:55496220 GRCh38: Chr15:55204022	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31662639.	NM_183235.3(RAB27A):c.*1473T>C GRCh37: Chr15:55496232 GRCh38: Chr15:55204034	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31662740.	NM_183235.3(RAB27A):c.*1427G>A GRCh37: Chr15:55496278 GRCh38: Chr15:55204080	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31662841.	NM_183235.3(RAB27A):c.*1418T>A GRCh37: Chr15:55496287 GRCh38: Chr15:55204089	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31662942.	NM_183235.3(RAB27A):c.*1392A>C GRCh37: Chr15:55496313 GRCh38: Chr15:55204115	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31663043.	NM_183235.3(RAB27A):c.*1296T>G GRCh37: Chr15:55496409 GRCh38: Chr15:55204211	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88809844.	NM_183235.3(RAB27A):c.*1172T>C GRCh37: Chr15:55496533 GRCh38: Chr15:55204335	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31663145.	NM_183235.3(RAB27A):c.*1170T>G GRCh37: Chr15:55496535 GRCh38: Chr15:55204337	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31663246.	NM_183235.3(RAB27A):c.*1156T>G GRCh37: Chr15:55496549 GRCh38: Chr15:55204351	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88809947.	NM_183235.3(RAB27A):c.*1110A>G GRCh37: Chr15:55496595 GRCh38: Chr15:55204397	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88810048.	NM_183235.3(RAB27A):c.*1013T>C GRCh37: Chr15:55496692 GRCh38: Chr15:55204494	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31663349.	NM_183235.3(RAB27A):c.*949A>G GRCh37: Chr15:55496756 GRCh38: Chr15:55204558	RAB27A		Griscelli syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31663450.	NM_183235.3(RAB27A):c.*936C>A GRCh37: Chr15:55496769 GRCh38: Chr15:55204571	RAB27A		Griscelli syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31663551.	NM_183235.3(RAB27A):c.*858G>A GRCh37: Chr15:55496847 GRCh38: Chr15:55204649	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88497052.	NM_183235.3(RAB27A):c.*854A>G GRCh37: Chr15:55496851 GRCh38: Chr15:55204653	RAB27A		Griscelli syndrome type 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 31663653.	NM_183235.3(RAB27A):c.*852C>T GRCh37: Chr15:55496853 GRCh38: Chr15:55204655	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31663754.	NM_183235.3(RAB27A):c.*842G>A GRCh37: Chr15:55496863 GRCh38: Chr15:55204665	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88497155.	NM_183235.3(RAB27A):c.*814G>A GRCh37: Chr15:55496891 GRCh38: Chr15:55204693	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31663856.	NM_183235.3(RAB27A):c.*731G>T GRCh37: Chr15:55496974 GRCh38: Chr15:55204776	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31663957.	NM_183235.3(RAB27A):c.*730T>C GRCh37: Chr15:55496975 GRCh38: Chr15:55204777	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88588058.	NM_183235.3(RAB27A):c.*725C>T GRCh37: Chr15:55496980 GRCh38: Chr15:55204782	RAB27A		Griscelli syndrome type 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31664059.	NM_183235.3(RAB27A):c.*723C>T GRCh37: Chr15:55496982 GRCh38: Chr15:55204784	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88588160.	NM_183235.3(RAB27A):c.*668A>G GRCh37: Chr15:55497037 GRCh38: Chr15:55204839	RAB27A		Griscelli syndrome type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88588261.	NM_183235.3(RAB27A):c.*595G>T GRCh37: Chr15:55497110 GRCh38: Chr15:55204912	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31664162.	NM_183235.3(RAB27A):c.*561A>T GRCh37: Chr15:55497144 GRCh38: Chr15:55204946	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88588363.	NM_183235.3(RAB27A):c.*472A>C GRCh37: Chr15:55497233 GRCh38: Chr15:55205035	RAB27A		Griscelli syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88588464.	NM_183235.3(RAB27A):c.*457A>G GRCh37: Chr15:55497248 GRCh38: Chr15:55205050	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88588565.	NM_183235.3(RAB27A):c.*429C>T GRCh37: Chr15:55497276 GRCh38: Chr15:55205078	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31664266.	NM_183235.3(RAB27A):c.*425G>A GRCh37: Chr15:55497280 GRCh38: Chr15:55205082	RAB27A		Griscelli syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88687467.	NM_183235.3(RAB27A):c.*415C>T GRCh37: Chr15:55497290 GRCh38: Chr15:55205092	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31664368.	NM_183235.3(RAB27A):c.*388G>C GRCh37: Chr15:55497317 GRCh38: Chr15:55205119	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31664469.	NM_183235.3(RAB27A):c.*387A>G GRCh37: Chr15:55497318 GRCh38: Chr15:55205120	RAB27A		Griscelli syndrome type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88687570.	NM_183235.3(RAB27A):c.*370T>C GRCh37: Chr15:55497335 GRCh38: Chr15:55205137	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31664571.	NM_183235.3(RAB27A):c.*162G>C GRCh37: Chr15:55497543 GRCh38: Chr15:55205345	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88687672.	NM_183235.3(RAB27A):c.*132G>A GRCh37: Chr15:55497573 GRCh38: Chr15:55205375	RAB27A		Griscelli syndrome type 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88687773.	NM_183235.3(RAB27A):c.*131C>T GRCh37: Chr15:55497574 GRCh38: Chr15:55205376	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31664674.	NM_183235.3(RAB27A):c.*121A>G GRCh37: Chr15:55497584 GRCh38: Chr15:55205386	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88815475.	NM_183235.3(RAB27A):c.*28A>G GRCh37: Chr15:55497677 GRCh38: Chr15:55205479	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 25944276.	NM_183235.3(RAB27A):c.*14C>T GRCh37: Chr15:55497691 GRCh38: Chr15:55205493	RAB27A		not specified, not provided, Griscelli syndrome type 2	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88815577.	NM_183235.3(RAB27A):c.*9G>A GRCh37: Chr15:55497696 GRCh38: Chr15:55205498	RAB27A		Griscelli syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 213771578.	NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr) GRCh37: Chr15:55497709 GRCh38: Chr15:55205511	RAB27A	C221Y	Griscelli syndrome type 2	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 262131279.	NM_183235.3(RAB27A):c.653C>A (p.Ala218Glu) GRCh37: Chr15:55497718 GRCh38: Chr15:55205520	RAB27A	A218E	Inborn genetic diseases	Uncertain significance (Aug 22, 2023)	criteria provided, single submitter
Select item 85846580.	NM_183235.3(RAB27A):c.652G>A (p.Ala218Thr) GRCh37: Chr15:55497719 GRCh38: Chr15:55205521	RAB27A	A218T	Griscelli syndrome type 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 207806581.	NM_183235.3(RAB27A):c.638_642del (p.Glu213fs) GRCh37: Chr15:55497729-55497733 GRCh38: Chr15:55205531-55205535	RAB27A	E213fs	Griscelli syndrome type 2	Likely pathogenic (Oct 20, 2022)	criteria provided, single submitter
Select item 142491182.	NM_183235.3(RAB27A):c.636A>C (p.Glu212Asp) GRCh37: Chr15:55497735 GRCh38: Chr15:55205537	RAB27A	E212D	Griscelli syndrome type 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148498283.	NM_183235.3(RAB27A):c.627G>C (p.Gln209His) GRCh37: Chr15:55497744 GRCh38: Chr15:55205546	RAB27A	Q209H	Griscelli syndrome type 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 57543584.	NM_183235.3(RAB27A):c.621G>A (p.Thr207=) GRCh37: Chr15:55497750 GRCh38: Chr15:55205552	RAB27A		Griscelli syndrome type 2	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 211655785.	NM_183235.3(RAB27A):c.619dup (p.Thr207fs) GRCh37: Chr15:55497751-55497752 GRCh38: Chr15:55205553-55205554	RAB27A	T207fs	Griscelli syndrome type 2	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 57473386.	NM_183235.3(RAB27A):c.620C>T (p.Thr207Met) GRCh37: Chr15:55497751 GRCh38: Chr15:55205553	RAB27A	T207M	Griscelli syndrome type 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 85209587.	NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser) GRCh37: Chr15:55497758 GRCh38: Chr15:55205560	RAB27A	A205S	Griscelli syndrome type 2, Inborn genetic diseases	Uncertain significance (Sep 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169416188.	NM_183235.3(RAB27A):c.609T>C (p.Gly203=) GRCh37: Chr15:55497762 GRCh38: Chr15:55205564	RAB27A		Autoinflammatory syndrome	Uncertain significance (Nov 1, 2019)	criteria provided, single submitter
Select item 228395989.	NM_183235.3(RAB27A):c.599G>A (p.Arg200Gln) GRCh37: Chr15:55497772 GRCh38: Chr15:55205574	RAB27A	R200Q	Inborn genetic diseases	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 169030790.	NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter) GRCh37: Chr15:55497773 GRCh38: Chr15:55205575	RAB27A	R200*	Griscelli syndrome type 2	Pathogenic (Jun 1, 2022)	no assertion criteria provided
Select item 166496491.	NM_183235.3(RAB27A):c.597G>A (p.Val199=) GRCh37: Chr15:55497774 GRCh38: Chr15:55205576	RAB27A		Griscelli syndrome type 2	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 169416092.	NM_183235.3(RAB27A):c.596T>A (p.Val199Glu) GRCh37: Chr15:55497775 GRCh38: Chr15:55205577	RAB27A	V199E	Autoinflammatory syndrome	Uncertain significance (May 1, 2018)	criteria provided, single submitter
Select item 103980393.	NM_183235.3(RAB27A):c.596T>C (p.Val199Ala) GRCh37: Chr15:55497775 GRCh38: Chr15:55205577	RAB27A	V199A	Griscelli syndrome type 2	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 46859194.	NM_183235.3(RAB27A):c.594G>A (p.Val198=) GRCh37: Chr15:55497777 GRCh38: Chr15:55205579	RAB27A		Autoinflammatory syndrome, Griscelli syndrome type 2	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102135795.	NM_183235.3(RAB27A):c.593T>C (p.Val198Ala) GRCh37: Chr15:55497778 GRCh38: Chr15:55205580	RAB27A	V198A	Inborn genetic diseases, Griscelli syndrome type 2	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 228387396.	NM_183235.3(RAB27A):c.592G>A (p.Val198Met) GRCh37: Chr15:55497779 GRCh38: Chr15:55205581	RAB27A	V198M	Inborn genetic diseases	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 211087897.	NM_183235.3(RAB27A):c.592G>T (p.Val198Leu) GRCh37: Chr15:55497779 GRCh38: Chr15:55205581	RAB27A	V198L	Griscelli syndrome type 2	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 195339698.	NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn) GRCh37: Chr15:55497803 GRCh38: Chr15:55205605	RAB27A	D190N	Griscelli syndrome type 2	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 193824699.	NM_183235.3(RAB27A):c.561G>A (p.Arg187=) GRCh37: Chr15:55497810 GRCh38: Chr15:55205612	RAB27A		Griscelli syndrome type 2	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 235346100.	NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) GRCh37: Chr15:55497811 GRCh38: Chr15:55205613	RAB27A	R187Q	RAB27A-related condition, Autoinflammatory syndrome, Griscelli syndrome type 2, not provided	Conflicting interpretations of pathogenicity (Dec 21, 2022)	criteria provided, conflicting interpretations

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