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Results: 1 to 20 of 89

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
SMSnot providedUncertain significance
(Oct 17, 2012)
classified by single submitterX21967250
2.
SMSSnyder Robinson syndromePathogenic
(Nov 15, 2013)
classified by single submitterX21992634
3.
SMSSnyder Robinson syndromePathogenic
(Jun 27, 2013)
classified by single submitterX21992634
4.
SMSSnyder Robinson syndromePathogenic
(Jun 27, 2013)
classified by single submitterX21977180
5.
SMSSnyder Robinson syndromePathogenic
(Jun 27, 2013)
classified by single submitterX21971900
6.
SMSSnyder Robinson syndromePathogenic
(Jun 27, 2013)
classified by multiple submittersX21977174
7.
SMSSnyder Robinson syndromePathogenic
(Jan 29, 2015)
classified by multiple submittersX21971926
8.
SMSSnyder Robinson syndromePathogenic
(Aug 29, 2014)
classified by multiple submittersX21977126
9.
SMSSnyder Robinson syndromePathogenic
(Nov 15, 2013)
classified by multiple submittersX21967312
10.
SMSSnyder Robinson syndromePathogenic
(Nov 15, 2013)
classified by multiple submittersX21972576
11.
See casesPathogenic
(Nov 30, 2010)
classified by single submitterX15173626 - 23952585
12.
See casesLikely pathogenic
(Jan 10, 2012)
classified by single submitterX12254555 - 30410580
13.
See casesPathogenic
(Aug 12, 2011)
classified by single submitterX253129 - 23023165
14.
See casesPathogenic
(Jul 1, 2013)
classified by single submitterX251879 - 35885004
15.
See casesPathogenic
(Jan 27, 2011)
classified by single submitterX10679 - 36186635
16.
See casesUncertain significance
(Sep 16, 2011)
classified by single submitterX3909315 - 38682287
17.
See casesPathogenic
(Nov 30, 2010)
classified by single submitterX233335 - 37292980
18.
See casesPathogenic
(Dec 16, 2011)
classified by single submitterX10701 - 37723318
19.
NR0B1, AMELX, SHROOM2, ARHGAP6, STS, ARSD, ARSE, ARSF, BMX, S100G, CLCN4, CYBB, DDX3X, DMD, EIF1AX, EIF2S3, FANCB, FIGF, GK, GLRA2, GPM6B, GPR34, GRPR, HCCS, ANOS1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MID1, NDP, NHS, GPR143, OTC, PDHA1, PDK3, PHEX, PHKA2, PIGA, POLA1, PPEF1, PRKX, PRPS2, PRRG1, RBBP7, RPGR, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SMS, CDKL5, TBL1X, DYNLT3, TSPAN7, TMSB4X, KDM6A, XG, XK, ZFX, HDHD1, PNPLA4, ZRSR2, USP9X, SRPX, OFD1, PIR, INE2, CASK, AP1S2, GYG2, REPS2, MED14, RAB9A, PCYT1B, FRMPD4, ADGRG2, ATP6AP2, SCML2, PRDX4, RAI2, MSL3, IL1RAPL1, CA5B, CNKSR2, ACOT9, SMPX, HYPM, MXRA5, EGFL6, VCX, GPR82, SH3KBP1, TLR7, TLR8, MBTPS2, VCX2, VCX3A, FTHL17, BCOR, GEMIN8, TXLNG, WWC3, CTPS2, TMEM27, NLGN4X, MID1IP1, ACE2, NYX, DUSP21, APOO, CXorf36, CXorf21, EFHC2, KLHL15, TMEM47, ATXN3L, SYAP1, SYTL5, BEND2, FUNDC1, PTCHD1, MAGEB10, DCAF8L1, MAGEB16, ASB11, ASB9, ZNF645, FAM47A, MOSPD2, MAGEB6, CXorf38, DDX53, FAM47B, CXorf22, SUPT20HL2, TCEANC, ARX, FAM9A, FAM9B, FAM9C, CXorf58, CXorf23, MAP7D2, KLHL34, TAB3, LINC01281, CFAP47, MAGEB18, LANCL3, MPC1L, DCAF8L2, ARSH, MAGEB5, TLR8-AS1, MAP3K15, LOC401585, YY2, MIR221, MIR222, VCX3B, FTH1P18, FAM47C, CXorf30, MAGEB17, SCARNA23, MIR651, LOC729609, GS1-600G8.3, LINC01546, SUPT20HL1, PHKA2-AS1, LINC01203, SCARNA9L, TRI-GAT1-2, TRI-GAT1-1, TRV-TAC1-2, TRI-GAT1-3, CLDN34, MIR548F5, MIR23C, MIR3937, MIR3915, PIR-FIGF, MIR4768, MIR1587, MIR548AJ2, MIR4770, MIR548AM, MIR4767, MIR4666B, MIR548AX, PTCHD1-AS, NHS-AS1, ZFX-AS1, PHEX-AS1, PRKX-AS1, MED14OS, PPEF1-AS1, EIF1AX-AS1, PCYT1B-AS1, MID1IP1-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LOC101928201, LOC101928564, LOC101928627, MIR6134, MIR6086, LOC104798195
See casesPathogenic
(Aug 12, 2011)
classified by single submitterX675360 - 46016699
20.
NR0B1, AMELX, SHROOM2, ARAF, ARHGAP6, STS, ARSD, ARSE, ARSF, BMX, S100G, CLCN4, CYBB, DDX3X, DMD, EIF1AX, EIF2S3, ELK1, FANCB, FIGF, GK, GLRA2, GPM6B, GPR34, GRPR, HCCS, ANOS1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MID1, NDP, NHS, GPR143, OTC, CDK16, PDHA1, PDK3, CFP, PHEX, PHKA2, PIGA, POLA1, PPEF1, PRKX, PRPS2, PRRG1, RBBP7, RP2, RPGR, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SMS, SSX1, SSX5, CDKL5, SYN1, TBL1X, DYNLT3, TIMP1, TSPAN7, TMSB4X, UBA1, KDM6A, XG, XK, ZFX, ZNF182, ZNF41, ZNF157, HDHD1, PNPLA4, ZRSR2, USP11, USP9X, RBM10, SRPX, UXT, OFD1, PIR, INE2, INE1, CASK, AP1S2, GYG2, RGN, REPS2, MED14, RAB9A, PCYT1B, FRMPD4, JADE3, ADGRG2, ATP6AP2, SCML2, PRDX4, RAI2, MSL3, IL1RAPL1, CA5B, CNKSR2, ACOT9, SMPX, HYPM, MXRA5, EGFL6, VCX, GPR82, SH3KBP1, TLR7, TLR8, MBTPS2, VCX2, VCX3A, FTHL17, NDUFB11, BCOR, GEMIN8, KRBOX4, TXLNG, WWC3, CTPS2, CHST7, ZNF630, TMEM27, NLGN4X, MID1IP1, ACE2, NYX, DUSP21, APOO, CXorf36, CXorf21, EFHC2, KLHL15, TMEM47, SLC9A7, ATXN3L, SYAP1, SYTL5, BEND2, FUNDC1, PTCHD1, MAGEB10, DCAF8L1, MAGEB16, ASB11, ASB9, ZNF645, FAM47A, MOSPD2, MAGEB6, CXorf38, DDX53, FAM47B, CXorf22, SUPT20HL2, TCEANC, ARX, FAM9A, FAM9B, FAM9C, LINC01560, CXorf58, CXorf23, MAP7D2, KLHL34, TAB3, SSX6, SSX9, LINC01281, CFAP47, MAGEB18, ZNF81, LANCL3, MPC1L, DCAF8L2, ARSH, MAGEB5, TLR8-AS1, MAP3K15, SPACA5, LOC401585, ZNF674-AS1, YY2, MIR221, MIR222, VCX3B, FTH1P18, FAM47C, ZNF674, CXorf30, MAGEB17, SCARNA23, MIR651, LINC01545, SPACA5B, LOC729609, GS1-600G8.3, SNORA11C, LINC01546, SUPT20HL1, PHKA2-AS1, LINC01203, UXT-AS1, SCARNA9L, TRI-GAT1-2, TRI-GAT1-1, TRV-TAC1-2, TRI-GAT1-3, CLDN34, MIR548F5, MIR23C, MIR3937, MIR3915, PIR-FIGF, MIR4769, MIR4768, MIR1587, MIR548AJ2, MIR4770, MIR548AM, MIR4767, MIR4666B, MIR548AX, PTCHD1-AS, NHS-AS1, ZFX-AS1, PHEX-AS1, PRKX-AS1, MED14OS, PPEF1-AS1, EIF1AX-AS1, PCYT1B-AS1, ZNF630-AS1, MID1IP1-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101928201, LOC101928564, LOC101928627, MIR6134, MIR6086, LOC104798195
See casesPathogenic
(Aug 12, 2011)
classified by single submitterX10679 - 48344725

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