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Items: 94

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:154540472
GRCh38:
Chr1:154567996
CHRNB2not specifiedBenign
(Apr 17, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr1:154540484
GRCh38:
Chr1:154568008
CHRNB2not specifiedLikely benign
(Feb 11, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:154540527
GRCh38:
Chr1:154568051
CHRNB2not specifiedUncertain significance
(Jul 1, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr1:154540590
GRCh38:
Chr1:154568114
CHRNB2not providedUncertain significance
(Jun 30, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr1:154541950
GRCh38:
Chr1:154569474
CHRNB2not specifiedUncertain significance
(Nov 3, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:154541951
GRCh38:
Chr1:154569475
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsyUncertain significance
(Nov 19, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:154541970
GRCh38:
Chr1:154569494
CHRNB2not specifiedUncertain significance
(Sep 22, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:154541978
GRCh38:
Chr1:154569502
CHRNB2not specifiedUncertain significance
(May 15, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr1:154541982
GRCh38:
Chr1:154569506
CHRNB2not specifiedLikely benign
(May 10, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr1:154541995
GRCh38:
Chr1:154569519
CHRNB2not specifiedUncertain significance
(Aug 15, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:154542013
GRCh38:
Chr1:154569537
CHRNB2not specifiedUncertain significance
(Dec 31, 2012)
criteria provided, single submitter
12.
GRCh37:
Chr1:154542023
GRCh38:
Chr1:154569547
CHRNB2not specifiedLikely benign
(Apr 15, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:154542092
GRCh38:
Chr1:154569616
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specifiedBenign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:154542269
GRCh38:
Chr1:154569793
CHRNB2not specifiedUncertain significance
(Oct 7, 2013)
criteria provided, single submitter
15.
GRCh37:
Chr1:154542319
GRCh38:
Chr1:154569843
CHRNB2not specifiedUncertain significance
(Nov 12, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr1:154542319
GRCh38:
Chr1:154569843
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specifiedBenign
(Jan 26, 2017)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:154542327
GRCh38:
Chr1:154569851
CHRNB2not specifiedLikely benign
(Jan 6, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr1:154542755
GRCh38:
Chr1:154570279
CHRNB2not specifiedUncertain significance
(Feb 19, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:154542772
GRCh38:
Chr1:154570296
CHRNB2not specifiedLikely benign
(Nov 25, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:154542775
GRCh38:
Chr1:154570299
CHRNB2not specifiedBenign
(Feb 25, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr1:154542807
GRCh38:
Chr1:154570331
CHRNB2not specified, Seizures, Deeply set eye,
Microcephaly
Uncertain significance
(Sep 1, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:154542826
GRCh38:
Chr1:154570350
CHRNB2not specifiedLikely benign
(Apr 6, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:154542841-154542843
GRCh38:
Chr1:154570365-154570367
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specifiedUncertain significance
(Sep 5, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:154543671
GRCh38:
Chr1:154571195
CHRNB2not specifiedLikely benign
(Oct 23, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr1:154543672
GRCh38:
Chr1:154571196
CHRNB2not specifiedUncertain significance
(Nov 28, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr1:154543693
GRCh38:
Chr1:154571217
CHRNB2not specifiedUncertain significance
(Mar 16, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr1:154543703
GRCh38:
Chr1:154571227
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsyUncertain significance
(Dec 5, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr1:154543752
GRCh38:
Chr1:154571276
CHRNB2not specifiedLikely benign
(Apr 28, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr1:154543846
GRCh38:
Chr1:154571370
CHRNB2not specifiedUncertain significance
(Apr 23, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr1:154543848
GRCh38:
Chr1:154571372
CHRNB2not specifiedUncertain significance
(Mar 17, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr1:154543919
GRCh38:
Chr1:154571443
CHRNB2not specifiedUncertain significance
(Dec 18, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr1:154543931
GRCh38:
Chr1:154571455
CHRNB2not specifiedUncertain significance
(Jun 6, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr1:154543939
GRCh38:
Chr1:154571463
CHRNB2not specifiedUncertain significance
(Sep 10, 2013)
criteria provided, single submitter
34.
GRCh37:
Chr1:154543958
GRCh38:
Chr1:154571482
CHRNB2not specifiedUncertain significance
(May 1, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr1:154543990
GRCh38:
Chr1:154571514
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsyUncertain significance
(Dec 29, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:154543994
GRCh38:
Chr1:154571518
CHRNB2not specifiedUncertain significance
(Jan 8, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr1:154544001
GRCh38:
Chr1:154571525
CHRNB2not specifiedLikely benign
(Mar 17, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr1:154544076
GRCh38:
Chr1:154571600
CHRNB2not specifiedLikely benign
(Nov 13, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr1:154544124
GRCh38:
Chr1:154571648
CHRNB2not specifiedLikely benign
(Jun 22, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr1:154544147
GRCh38:
Chr1:154571671
CHRNB2not specifiedUncertain significance
(Jul 21, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr1:154544158
GRCh38:
Chr1:154571682
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
42.
GRCh37:
Chr1:154544158
GRCh38:
Chr1:154571682
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
43.
GRCh37:
Chr1:154544158
GRCh38:
Chr1:154571682
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
44.
GRCh37:
Chr1:154544200
GRCh38:
Chr1:154571724
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
45.
GRCh37:
Chr1:154544209
GRCh38:
Chr1:154571733
CHRNB2not specifiedUncertain significance
(May 14, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr1:154544222
GRCh38:
Chr1:154571746
CHRNB2Epilepsy, nocturnal frontal lobe, type 3, not providedPathogenic
(Mar 12, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr1:154544235
GRCh38:
Chr1:154571759
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
48.
GRCh37:
Chr1:154544237
GRCh38:
Chr1:154571761
CHRNB2not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr1:154544309
GRCh38:
Chr1:154571833
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
50.
GRCh37:
Chr1:154544345
GRCh38:
Chr1:154571869
CHRNB2not specifiedUncertain significance
(Aug 1, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:154544386
GRCh38:
Chr1:154571910
CHRNB2not specifiedLikely benign
(Jan 5, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:154544413
GRCh38:
Chr1:154571937
CHRNB2not specifiedLikely benign
(Oct 17, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:154544416
GRCh38:
Chr1:154571940
CHRNB2not specifiedUncertain significance
(Mar 10, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr1:154544427
GRCh38:
Chr1:154571951
CHRNB2not specifiedBenign
(Jun 23, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr1:154544431-154544433
GRCh38:
Chr1:154571955-154571957
CHRNB2not specifiedUncertain significance
(Jan 8, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr1:154544470-154544479
GRCh38:
Chr1:154571994-154572003
CHRNB2not specifiedUncertain significance
(Jan 9, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr1:154544470
GRCh38:
Chr1:154571994
CHRNB2not specifiedLikely benign
(Jul 10, 2013)
criteria provided, single submitter
58.
GRCh37:
Chr1:154544490
GRCh38:
Chr1:154572014
CHRNB2Epilepsy, nocturnal frontal lobe, type 3, Autosomal dominant nocturnal frontal lobe epilepsy, not specified,
not provided
Conflicting interpretations of pathogenicity
(Jan 25, 2017)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr1:154544498
GRCh38:
Chr1:154572022
CHRNB2not specifiedUncertain significance
(Mar 27, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr1:154544503
GRCh38:
Chr1:154572027
CHRNB2not specifiedUncertain significance
(Aug 16, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr1:154544531
GRCh38:
Chr1:154572055
CHRNB2not specifiedUncertain significance
(Apr 21, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr1:154544532
GRCh38:
Chr1:154572056
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specifiedConflicting interpretations of pathogenicity
(Nov 10, 2016)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr1:154544533
GRCh38:
Chr1:154572057
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specifiedConflicting interpretations of pathogenicity
(Jun 13, 2016)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr1:154544534
GRCh38:
Chr1:154572058
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specifiedLikely benign
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:154544535
GRCh38:
Chr1:154572059
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsyLikely benign
(Jan 18, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr1:154544548
GRCh38:
Chr1:154572072
CHRNB2not specifiedLikely benign
(Aug 18, 2015)
criteria provided, single submitter
67.
GRCh37:
Chr1:154544556
GRCh38:
Chr1:154572080
CHRNB2not specifiedLikely benign
(Nov 4, 2015)
criteria provided, single submitter
68.
GRCh37:
Chr1:154544572
GRCh38:
Chr1:154572096
CHRNB2not specifiedUncertain significance
(Feb 17, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr1:154544586
GRCh38:
Chr1:154572110
CHRNB2not specifiedLikely benign
(Jan 3, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr1:154544590
GRCh38:
Chr1:154572114
CHRNB2not specifiedUncertain significance
(Feb 16, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr1:154544594
GRCh38:
Chr1:154572118
CHRNB2not specifiedUncertain significance
(Feb 13, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr1:154544607
GRCh38:
Chr1:154572131
CHRNB2not specifiedLikely benign
(Jan 4, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr1:154544613
GRCh38:
Chr1:154572137
CHRNB2not specifiedUncertain significance
(Jul 9, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr1:154544619
GRCh38:
Chr1:154572143
CHRNB2not specifiedUncertain significance
(Jan 11, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr1:154544640
GRCh38:
Chr1:154572164
CHRNB2not specifiedUncertain significance
(May 19, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr1:154544651
GRCh38:
Chr1:154572175
CHRNB2not specifiedBenign/Likely benign
(Mar 16, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:154548222
GRCh38:
Chr1:154575746
CHRNB2not specifiedBenign
(Sep 15, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr1:154548232
GRCh38:
Chr1:154575756
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsyLikely benign
(Apr 29, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr1:154548277
GRCh38:
Chr1:154575801
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specified, Generalized seizures
Conflicting interpretations of pathogenicity
(Apr 5, 2017)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr1:154548279
GRCh38:
Chr1:154575803
CHRNB2not specifiedLikely benign
(Jun 27, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr1:154548306-154548309
GRCh38:
Chr1:154575830-154575833
CHRNB2not specifiedUncertain significance
(May 29, 2013)
criteria provided, single submitter
82.
GRCh37:
Chr1:154548306
GRCh38:
Chr1:154575830
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specifiedBenign
(Sep 9, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:154548324
GRCh38:
Chr1:154575848
CHRNB2not specifiedLikely benign
(Aug 4, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr1:154548331
GRCh38:
Chr1:154575855
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specified, not provided
Benign/Likely benign
(Aug 31, 2017)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:154548362
GRCh38:
Chr1:154575886
CHRNB2not specifiedUncertain significance
(Sep 18, 2013)
criteria provided, single submitter
86.
GRCh37:
Chr1:154548381
GRCh38:
Chr1:154575905
CHRNB2Autosomal dominant nocturnal frontal lobe epilepsy, not specifiedConflicting interpretations of pathogenicity
(Sep 22, 2016)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr1:154548384
GRCh38:
Chr1:154575908
CHRNB2not specifiedConflicting interpretations of pathogenicity
(May 7, 2014)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr1:154548421
GRCh38:
Chr1:154575945
CHRNB2not specifiedLikely benign
(Mar 21, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr1:154548880
GRCh38:
Chr1:154576404
CHRNB2nicotine response - Efficacy, Toxicity/ADRdrug responsereviewed by expert panel
90.
GRCh37:
Chr1:849467-249224684
ABCA4, ABL2, ACADM, ACTA1, ACTN2, ADAR, ADORA1, ADORA3, PARP1, ADSS, AGL, AGT, AK2, AK4, ALDH9A1, ALPL, ALX3, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, APCS, APOA2, FASLG, ARF1, RHOC, ARNT, ASTN1, SERPINC1, ATF3, RERE, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5F1, ATP6V0B, AVPR1B, ADGRB2, BCL9, BGLAP, BMP8B, BRDT, C1QA, C1QB, C1QC, C4BPA, C4BPB, C8A, C8B, CA6, CACNA1E, CACNA1S, CAPN2, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, RUNX3, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD247, CD5L, TNFRSF8, CD34, CD48, CD53, CD58, CDA, CDK11B, CDC20, CDC42, CDKN2C, CD52, CENPF, RCC1, CHI3L1, CHI3L2, CHIT1, CHML, LYST, CHRM3, CHRNB2, CKS1B, CLCA1, CLCN6, CLCNKA, CLCNKB, CLK2, PLK3, CNN3, CNR2, COL8A2, COL9A2, COL11A1, COL16A1, COPA, CORT, CPT2, CR1, CR1L, CR2, CRABP2, CRP, CRYZ, CSF1, CSF3R, CSRP1, CTBS, CTH, CTPS1, CTSE, CTSK, CTSS, CYP2J2, CYP4A11, CYP4B1, DAB1, CD55, DBT, GADD45A, DDOST, DHX9, DFFA, DFFB, DHCR24, DIO1, DPH2, DPT, DPYD, DR1, DVL1, E2F2, ECE1, ECM1, S1PR1, EDN2, PHC2, EIF2D, EFNA1, EFNA3, EFNA4, CELSR2, MEGF6, EPHA2, ELAVL4, ELF3, ELK4, ENO1, ENSA, EPB41, EPHA8, EPHB2, EPHX1, EPRS, EPS15, ESRRG, ETV3, EXTL1, EXTL2, EYA3, F3, F5, F13B, FAAH, FABP3, FCER1A, FCER1G, FCGR1A, FCGR1B, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FGR, FH, FHL3, FOXE3, FOXD2, FLG, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, MTOR, NR5A2, FUCA1, ACKR1, IFI6, GABRD, GALE, GALNT2, GBA, GBP1, GBP2, GBP3, GFI1, GJA4, GJA5, GJA8, GJB3, GJB5, GCLM, GLUL, GNAI3, GNAT2, GNB1, GNG4, GNG5, SFN, GPR3, GPR25, GPX7, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H3F3A, HCRTR1, HDAC1, HDGF, CFH, CFHR1, CFHR2, ZBTB48, MR1, HLX, HMGN2, HMGCL, HMGCS2, HNRNPU, HPCA, HSD3B1, HSD3B2, HSD11B1, HSPA6, HSPA7, IGSF3, HSPG2, HTR1D, HTR6, ID3, IFI16, CYR61, IL6R, IL10, IL12RB2, TNFRSF9, ILF2, INPP5B, INSRR, IPP, IRF6, ITPKB, IVL, JAK1, JUN, KCNA2, KCNA3, KCNA10, KCNC4, KCND3, KCNH1, KCNJ9, KCNJ10, KCNK1, KCNK2, KCNN3, KISS1, LAD1, LAMB3, LAMC1, LAMC2, STMN1, LBR, LCK, LEPR, LGALS8, LMNA, LMX1A, LOR, LY9, TACSTD2, MAGOH, MARK1, MATN1, MCL1, CD46, SMCP, MDM4, MEF2D, MFAP2, MGST3, MNDA, MOV10, MPL, MPZ, MSH4, MTF1, MTHFR, MTR, MTX1, MUC1, MUTYH, MYBPH, MYCL, MYOC, MYOG, PPP1R12B, NASP, NBL1, NCF2, NDUFS2, NDUFS5, NEK2, NFIA, NFYC, NGF, NHLH1, NHLH2, NID1, NIT1, NOTCH2, NPPA, NPPB, NPR1, NRAS, NRDC, YBX1, NTRK1, ROR1, DDR2, NVL, OPRD1, ORC1, OVGP1, PAFAH2, PRDX1, PAX7, PBX1, CDK18, PDC, PDE4B, PDZK1, PEX10, PEX14, PFDN2, PFKFB2, PGD, PGM1, PIGC, PIGR, PIK3C2B, PIK3CD, PI4KB, PIN1P1, PKLR, PKP1, PLA2G2A, PLA2G4A, PLA2G5, PLOD1, PLXNA2, EXOSC10, PRRX1, POU2F1, POU3F1, PPOX, PPP1R8, PPP2R5A, PPT1, PRCC, PRELP, PRKAA2, PRKAB2, PRKACB, PKN2, PRKCZ, PROX1, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PTAFR, PTGER3, PTGFR, PTGFRN, PTGS2, QSOX1, PTPN7, PTPN14, PTPRC, PTPRF, PEX19, ABCD3, RAB3B, RAB4A, RAB13, RABGGTB, RABIF, RAP1A, RAP1GAP, RBBP4, RBBP5, REN, RFX5, RGS1, RGS2, RGS4, RGS7, RGS13, RGS16, RHCE, RHD, RIT1, RLF, RNASEL, RNF2, RNPEP, RNU1-4, SNORA73A, SNORD21, RORC, RPA2, RPE65, RPL5, RPL11, RPL22, RPS6KA1, RPS8, RPS27, RSC1A1, RXRG, RYR2, S100A1, SORT1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, SARS, SCNN1D, SCP2, XCL1, SDHB, SDHC, SELE, SELL, SELP, SFPQ, SRSF4, SHC1, ST3GAL3, STIL, SKI, SLAMF1, SLC1A7, SLC2A1, SLC2A5, SLC6A9, SLC9A1, SLC16A1, SNRPE, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SRM, SRP9, TROVE2, SSR2, STXBP3, XCL2, SYCP1, TAF12, TAF13, TAL1, TARBP1, CNTN2, TBCE, TBX15, TCEA3, ELOA, VPS72, TGFB2, LEFTY2, TGFBR3, THBS3, TCHH, TIE1, TLR5, GPR137B, TNFRSF1B, TNNI1, TNNT2, TNR, TP53BP2, TP73, TPM3, TPR, TRAF5, TRE-TTC3-1, TRNAG1, CCT3, TRN-GTT2-1, TSHB, TSNAX, TTC4, TUFT1, TNFSF4, TNFRSF4, UCK2, UQCRH, UROD, USF1, USP1, USH2A, VCAM1, VDAC1P4, WNT2B, WNT9A, ZSCAN20, ZNF124, ZBTB17, SLC30A1, SLC30A2, LUZP1, PRDM2, DNALI1, LRP8, LAPTM5, BSND, CSDE1, EVI5, DAP3, NPHS2, BTG2, PTP4A2, ARID1A, HIST3H3, CDC7, HIST2H2AA3, HIST2H2AC, HIST2H2BE, HIST2H4A, PIP5K1A, TAGLN2, BCAR3, ANXA9, SNHG3, NR0B2, RAD54L, GNPAT, DYRK3, TTF2, CDC42BPA, RGS5, PPFIA4, PIK3R3, MMP23B, MMP23A, KCNAB2, ITGA10, LMO4, FCN3, BLZF1, CDC14A, DEGS1, KMO, YARS, MKNK1, AKR7A2, PLPP3, RTCA, PTCH2, ALDH4A1, EIF3I, EIF4G3, VAMP4, PEA15, B4GALT3, B4GALT2, B3GALT2, TNFRSF25, ADAM15, PABPC4, TNFRSF14, TNFRSF18, FPGT, PEX11B, CREG1, CD84, PER3, FUBP1, EIF2B3, BCL10, RAB29, SELENBP1, TNFSF18, TAF1A, MPZL1, SH2D2A, ARTN, MAP3K6, ANGPTL1, DIRAS3, TBX19, FCGR2C, SLC16A4, PRPF3, KCNQ4, EXO1, ARHGEF2, DEDD, ZMYM4, ZMYM6, XPR1, FCMR, DHRS3, MAPKAPK2, GPR37L1, GPR52, SRSF11, VAMP3, ZFYVE9, CD101, SELENOF, ZRANB2, SNRNP40, ARHGAP29, AIM2, GGPS1, RASAL2, THEMIS2, ADAMTS4, TMEM59, CHD1L, H6PD, SOX13, PRDX6, CLCA3P, CLCA2, ISG15, IKBKE, PLCH2, HS2ST1, PDE4DIP, IPO13, SDC3, SLC25A44, KIAA0040, KDM4A, CROCC, PUM1, NOS1AP, TMEM63A, CEP104, RIMS3, TOMM20, EFCAB14, URB2, ARHGEF11, DNAJC6, CEP350, CEP170, LRIG2, SETDB1, ZC3H11A, SMG7, PLPPR4, UBAP2L, SV2A, KLHL21, SLC35E2, DENND4B, RABGAP1L, TMCC2, FAM20B, ZBTB40, LPGAT1, MFN2, KIF14, RBM8A, THRAP3, NR1I3, AKT3, INSL5, PIGK, SCAMP3, PTPRU, ARPC5, TSPAN2, TSPAN1, CELA3A, PDZK1IP1, WASF2, PATJ, PRG4, ANGPTL7, GPA33, STX6, HNRNPR, SRRM1, CNKSR1, SF3B4, ZMPSTE24, UBE4B, BCAS2, AKR1A1, WARS2, BPNT1, CEPT1, PIAS3, TESK2, TIMM17A, LRRN2, PPIE, VAV3, HAX1, MAD2L2, PPIH, ZBTB18, C1orf61, CAP1, LRRC41, SEMA6C, LAMTOR5, SLC19A2, IFI44, POLR3C, IVNS1ABP, TXNIP, PDPN, LEFTY1, SPHAR, PMVK, KHDRBS1, GMEB1, FAM189B, AP4B1, NUDC, PHTF1, MASP2, CAPN9, NES, KDM5B, AHCYL1, SRSF10, SDCCAG8, CFHR4, CFHR3, WDR3, OCLM, JTB, MTMR11, MAN1A2, UTS2, SF3A3, MLLT11, IFI44L, EBNA1BP2, SLC27A3, KIF2C, IL24, TDRKH, RER1, DNAJB4, ADAM30, RCAN3, FAF1, CD160, GLMN, HHLA3, CELF3, DDX20, DUSP10, MST1L, PADI2, PMF1, DUSP12, VPS45, LYPLA2, PARK7, CTRC, ACOT7, COG2, CLCA4, MTF2, DNAJC8, NTNG1, PLEKHA6, CLSTN1, FOXJ3, KHDC4, WDR47, KIFAP3, ATF6, SCMH1, AKR7A3, TTC39A, SPEN, KDM1A, RBM34, USP33, WDTC1, KIF21B, NMNAT2, EMC1, KIF1B, NFASC, POGZ, COLGALT2, MAST2, NCDN, CLCC1, SLC35D1, RGL1, PLEKHM2, SYT11, PRRC2C, FBXO28, RPRD2, OTUD3, KAZN, CAMTA1, ADGRL2, CAMSAP2, KIAA1107, ZCCHC11, SZT2, DNAJC16, UBR4, USP24, SRGAP2, SMG5, NCSTN, ATP13A2, CRB1, ITGB3BP, GPR161, TARDBP, CELA3B, SLC35A3, ABCB10, ICMT, MACF1, LRRC8B, ZNF281, SNAPIN, LPAR3, PADI4, DDAH1, TMEM50A, OPN3, PHLDA3, RUSC1, CA14, KPNA6, SSBP3, STX12, DSTYK, RAB3GAP2, CFAP45, LMOD1, MPC2, TRIM58, INTS7, OLFML2B, AHCTF1, C1orf43, CLIC4, NSL1, SYF2, RWDD3, PARS2, MMACHC, ZZZ3, ACOT11, CHD5, DNM3, TOR1AIP1, CHTOP, SZRD1, LDLRAP1, SERBP1, NOC2L, OR1C1, PTPN22, PHGDH, FBXO2, LCE2B, OR2M4, OR2L2, OPTC, FBXO6, PLA2G2D, AK5, MYCBP, OR10J1, HEYL, AGO1, OR2T1, RPS6KC1, RNF11, USP21, FOXD3, DIEXF, TRAPPC3, TAF5L, CACYBP, HSPB7, CHIA, SLC39A1, DISC2, DISC1, ARHGEF16, AHDC1, RNF115, KLHL20, TEKT2, SMPDL3B, ANGPTL3, LAMTOR2, FLVCR1, UBE2T, CNIH4, SSU72, TMOD4, GNL2, GPSM2, UBIAD1, PYCR2, NME7, ALG6, NENF, PADI1, IL19, CERS2, SLC25A24, PLA2G2E, DNTTIP2, WRAP73, CRNN, G0S2, IL20, SLC45A1, DCAF8, HP1BP3, F11R, TMED5, RRP15, GLRX2, BOLA1, DESI2, CELA2B, ZNF593, ZBTB7B, ZNF691, TXNDC12, TNNI3K, RRNAD1, ADIPOR1, SCCPDH, SH3GLB1, MECR, APH1A, UTP11, TRIM17, KCTD3, SDF4, MRTO4, PLEKHO1, HAO2, ACP6, TMEM69, MRPL37, IER5, HOOK1, SNX7, UCHL5, SUCO, HPCAL4, YTHDF2, GPR89B, HSD17B7, UFC1, DTL, ZCCHC17, TRIM33, METTL13, DPH5, HSPB11, OAZ3, PADI3, CYB5R1, CMPK1, ARID4B, CD244, GPR88, ERRFI1, DPM3, WNT4, YIPF1, FBXO42, MRPS21, TRMT13, TMCO1, ADAMTSL4, CRCT1, RNF186, SPATA6, EGLN1, MXRA8, L1TD1, HES2, MAP10, RSBN1, ZNHIT6, GPN2, LEPROT, FBLIM1, MED18, TRIT1, GIPC2, SWT1, GDAP2, FAM46C, GON4L, GPATCH4, PALMD, FNBP1L, ST7L, PQLC2, CASZ1, LAX1, RHBDL2, DUSP23, ADPRHL2, TRNAU1AP, ODR4, C1orf109, C1orf56, INTS11, C1orf123, C1orf159, MARC2, AURKAIP1, TTC22, MRPL20, CRYBG2, SUSD4, KIF26B, TMEM51, RALGPS2, GPATCH2, BSDC1, XKR8, TMEM39B, PRPF38B, HEATR1, CDCA8, LRRC8D, MSTO1, DARS2, ARHGEF10L, PRMT6, RNF220, VPS13D, EVA1B, GOLPH3L, ATAD3A, TMEM57, KLHDC8A, TRIM62, ETNK2, RAVER2, PANK4, KIRREL1, TMEM206, YY1AP1, ECHDC2, FGGY, MCOLN3, SLC22A15, YOD1, CAMK2N1, BATF3, SLC30A10, UBE2Q1, RNPC3, ITLN1, ASAP3, POMGNT1, PNRC2, LRRC40, DEPDC1, PIGV, ZNF692, NBPF1, IARS2, MAP7D1, IPO9, NDC1, NECAP2, IQCC, C1orf112, HHAT, DNAJC11, ENAH, NUP133, RCOR3, C1orf106, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, FAM212B, DMAP1, AJAP1, GNG12, SLC50A1, TMEM234, MTFR1L, SERTAD4, KYAT3, ERO1B, FMN2, SLAMF8, CDC42SE1, UBQLN4, TMEM167B, OLFML3, SMYD2, LHX9, OTUD7B, COQ8A, CTNNBIP1, RSRP1, AGTRAP, PITHD1, RAB25, PGLYRP4, ZNF695, RHBG, MAN1C1, SCYL3, GJC2, CAMK1G, NIPAL3, SELENON, ATP8B2, VANGL2, PBXIP1, S100A14, PLEKHG5, GATAD2B, AMIGO1, LRRC47, ODF2L, CGN, KIAA1324, DISP3, IGSF9, LRRC7, SIPA1L2, KIF17, ZNF687, ZSWIM5, POGK, KIAA1522, HCN3, CACHD1, MIER1, KIAA1614, BRINP2, HES4, CCDC181, GRHL3, SLAMF7, ZP4, CADM3, PTBP2, RHOU, PRUNE1, DNASE2B, DLGAP3, IL22RA1, HIVEP3, KLHL12, LGR6, GPBP1L1, HAPLN2, MIIP, GAS5, PAPPA2, CELA2A, BCAN, GPATCH3, TNN, MRPS14, DMRTB1, DMRTA2, CLSPN, PRDM16, OXCT2, RRAGC, ADGRL4, TINAGL1, P3H1, TFB2M, SEMA4A, TOR3A, RFWD2, GREM2, RGS18, PLA2G2F, MFSD14A, NUCKS1, SMAP2, ACBD3, SMYD3, ATPAF1, MARC1, S100PBP, MEAF6, RBM15, EXO5, CEP85, ARV1, NMNAT1, ELOVL1, AIDA, VWA1, DCLRE1B, MRPS15, MRPL9, PINK1, JMJD4, MARCKSL1, PRAMEF1, PRAMEF2, INTS3, NADK, ZFP69B, COA7, PHACTR4, AUNIP, SCNM1, ERI3, C1orf50, WDR77, C1orf116, CCDC28B, C1orf35, EFHD2, MMEL1, RSG1, FCRL2, NKAIN1, TTC13, EPS8L3, CDC73, MRPL24, MUL1, PGBD5, TNFAIP8L2, C1orf54, TMEM53, AKIRIN1, HECTD3, BEND5, VTCN1, YRDC, ZYG11B, NOL9, PPCS, LIN28A, SH3D21, TTLL7, SNIP1, C1orf115, HHIPL2, VASH2, AGMAT, WDR78, ZMYM1, ZNF669, RPAP2, ZNF672, MORN1, FAM110D, KIAA0319L, DHDDS, PAQR6, DENND2D, WLS, PCNX2, GPR157, TRIM46, MROH9, RPF1, SIKE1, ZC3H12A, SPSB1, TARS2, WDR26, TRIM45, EDEM3, FLAD1, TRAF3IP3, CPTP, ZNF436, TAS1R2, TAS1R1, SH3BP5L, NPL, GJA9, OR6N2, OR6K2, OR2L5, OR2G3, OR2G2, OR2C3, SYNC, CFHR5, TRIM11, C1orf21, ACTL8, ANKRD13C, NECTIN4, SNX27, ANP32E, SHCBP1L, TRMT1L, TSSK3, CCNL2, NUAK2, VANGL1, ST6GALNAC5, ISG20L2, HYI, FCRL5, FCRL4, SH3BGRL3, DDX59, NUF2, RASSF5, SESN2, ESPN, TAS1R3, ATAD3B, HMCN1, GPR61, MIXL1, STK40, SPRTN, TM2D1, FCAMR, REG4, OBSCN, TMEM222, TEX35, PLEKHN1, HORMAD1, TOMM40L, SYDE2, ZNF644, USP48, ZMYND12, NBPF3, LRRC8C, ZDHHC18, SGIP1, POLR3GL, SLC25A33, TMEM79, NTPCR, EFCAB2, DDI2, ACBD6, LZIC, PROK1, MAP3K21, EFCAB7, ZBTB37, NT5C1A, LCE3D, TRIM63, PSRC1, FAM167B, FCRLA, ZNF496, HPDL, AGBL4, MFSD2A, C1orf198, PPP1R15B, ATG4C, MAEL, PRPF38A, SYTL1, IGSF21, LSM10, C1orf94, DISP1, STRIP1, RGS8, SLC45A3, DOCK7, CFAP74, WNT3A, NAV1, SEC16B, AQP10, LHX4, SLAMF9, KIAA2013, THAP3, STPG1, PYGO2, ANGEL2, SPOCD1, ZNF697, IGFN1, NUP210L, BTF3L4, UBXN11, NEXN, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, TMEM183A, HIST3H2A, PIGM, IGSF8, C1orf158, LEMD1, ZNF670, FBXO44, ATPIF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, GNRHR2, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, FAM46B, COX20, RBP7, TSEN15, FAM129A, SNAP47, ACAP3, TADA1, THEM4, SH2D1B, SSX2IP, UBE2J2, OLFM3, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KDF1, CCSAP, LRRC38, AADACL3, PUSL1, B3GALT6, WDR63, KLHDC9, AXDND1, MAB21L3, IFFO2, HIST2H3C, SLC44A3, ATXN7L2, C1orf194, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, ATP6V1G3, ASB17, TYW3, ERICH3, LRRIQ3, TPRG1L, FAM213B, MYOM3, DMBX1, OR10J5, TMCO2, ZNF684, TCEANC2, PODN, LRRC39, GJB4, HMGB4, RNF19B, A3GALT2, DCST2, DNAH14, OR2B11, ZNF648, TEDDM1, C1orf122, OSCP1, C1orf216, KLHDC7A, VWA5B1, UBXN10, C1orf87, ARL8A, SYT2, GOLT1A, UHMK1, FCRLB, WDR64, C1orf131, LIX1L, SPATA17, EDARADD, KLF17, TMEM125, TSACC, IQGAP3, NAXE, ARHGEF19, MRPL55, HIST3H2BB, DRAM2, PIFO, C1orf162, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, TATDN3, S100A16, NEK7, ACTRT2, MIB2, ITLN2, SYT6, C1orf74, CREB3L4, C1orf127, BROX, SAMD11, SAMD13, C1orf52, PHF13, CIART, TMEM56, NBPF4, UBE2U, SLC35F3, HFE2, ANKRD35, FAM163A, B3GALNT2, MFSD4A, PM20D1, GCSAML, SLC30A7, CCDC27, KNCN, MOB3C, GLIS1, NBPF12, LELP1, RC3H1, DCDC2B, ZNF362, DCST1, CNIH3, MANEAL, IL23R, METTL11B, FAM78B, SHISA4, EXOC8, PDIK1L, BNIPL, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CCDC17, LRRC71, SRARP, RNF187, PYHIN1, SPATA45, FAM71A, SLC2A7, DENND2C, GBP6, FNDC7, DENND1B, TDRD5, TOR1AIP2, CALML6, IFNLR1, CITED4, LEXM, SPRR4, KANK4, SASS6, SDE2, CNST, FAM43B, HFM1, PAQR7, TTC24, CCDC185, UBL4B, AGO3, AGO4, LCE4A, ALG14, FAM76A, FYB2, TMEM201, TMEM61, CYP4Z1, FAAP20, CDCP2, SLC5A9, CC2D1B, NBPF11, NUDT17, TXLNA, TCTEX1D1, PLD5, C1orf100, SPAG17, SLFNL1, KRTCAP2, CRTC2, IBA57, HIPK1, SLC44A5, ATAD3C, AKR7L, TMEM9, FNDC5, EPHX4, TTLL10, AKNAD1, SLC41A1, OR2T6, LCE5A, TMCO4, MCOLN2, COL24A1, PCSK9, SYT14, ST6GALNAC3, CATSPERE, ZNF683, ARHGAP30, CFAP126, NEGR1, ASPM, MDS2, CYP4X1, MAGI3, TIPRL, NPHP4, BEST4, PGBD2, FAM19A3, RIIAD1, THEM5, C1orf167, OR2L13, SLC9C2, OR14A16, CYP4A22, C1orf185, NBPF15, FAM102B, SYPL2, CYB561D1, ANKRD34A, RUSC1-AS1, RSPO1, EPHA10, SNHG28, SPATA46, ZNF326, BTBD8, RIMKLA, SLC25A34, LIN9, VN1R5, HIST2H2AB, PPM1J, HIST2H3A, FAM151A, S100A7A, LINGO4, RXFP4, ANKRD45, C1orf174, KLHL17, TMEM240, TMEM52, BRINP3, ZBTB8OS, TFAP2E, ZNF678, PRSS38, CCDC190, C1orf228, ZFP69, RD3, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, CCDC18, OR6F1, OR2W3, OR2T8, OR2T3, MYBPHL, OR10R2, FCRL6, KCNT2, BARHL2, NBPF7, TCTEX1D4, OR2T29, SERINC2, SHISAL2A, FAM131C, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PADI6, RGSL1, BMP8A, IRF2BP2, ZBTB41, DRAXIN, SPATA21, SVBP, TEX38, MROH7, MIGA1, PEAR1, SFT2D2, MIA3, STUM, FAM89A, AGRN, CENPS, CATSPER4, NSUN4, GPR153, ILDR2, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, TRNP1, CD164L2, TRABD2B, LDLRAD1, GBP7, C1orf146, FAM69A, SLC6A17, NOTCH2NL, LYSMD1, HRNR, FLG2, C1orf189, C1orf53, TMEM81, CAPN8, COA6, C1orf229, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, UOX, FRRS1, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, TMEM200B, PRAMEF4, PRAMEF13, SH2D5, NCMAP, C1orf141, C1orf226, NBPF9, FAM177B, RNF223, LDLRAD2, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, APOBEC4, MIR101-1, MIR137, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR181A1, MIR214, MIR215, MIR29C, MIR30C1, MIR34A, MIR9-1, RGS21, LHX8, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, FAM183A, ZYG11A, BCL2L15, HIST2H2BF, ETV3L, LRRC52, RHEX, TRIM67, MAP1LC3C, ANKRD65, PRAMEF7, OR10J3, OR2W5, OR13G1, KPRP, LCE6A, RBMXL1, LURAP1, PEF1, MIR429, FAM72C, HIST2H4B, PRR9, C1orf147, CYB5RL, MIR205HG, FLVCR1-AS1, CYMP, KIAA0754, TMEM88B, FNDC10, PPIAL4G, PPIAL4D, PRAMEF19, PRAMEF20, MT1HL1, S100A7L2, LACTBL1, LYPD8, SRGAP2B, ASCL5, ZBTB8A, NBPF6, SRGAP2C, PPIAL4A, GPR89A, PPIAL4C, HIST2H3D, PRAMEF22, PRAMEF15, FAM72B, PRAMEF16, PCP4L1, MIR551A, HIST2H2AA4, ZBTB8B, CCDC30, CDK11A, SLC35E2B, FAM72D, NBPF8, PPIAL4F, TEX46, FAM72A, PPIAL4E, PFN1P2, FAM229A, C1orf132, BTNL10, C1orf68, TSTD1, FOXO6, LINC01783, NBPF10, FCGR1CP, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, HYDIN2, ZBED6, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, NBPF5P, CENPS-CORT, FPGT-TNNI3K, PMF1-BGLAP, MINOS1-NBL1, DNM3OS, NEGR1-IT1, ZRANB2-AS2, LINC00538, FALEC, LINC00853, LOC100996263, LOC101927434, LOC101927851, LOC101928034, LINC01649, LOC101929516
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
91.
GRCh37:
Chr1:849467-249224684
ABCA4, ABL2, ACADM, ACTA1, ACTN2, ADAR, ADORA1, ADORA3, PARP1, ADSS, AGL, AGT, AK2, AK4, ALDH9A1, ALPL, ALX3, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, APCS, APOA2, FASLG, ARF1, RHOC, ARNT, ASTN1, SERPINC1, ATF3, RERE, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5F1, ATP6V0B, AVPR1B, ADGRB2, BCL9, BGLAP, BMP8B, BRDT, C1QA, C1QB, C1QC, C4BPA, C4BPB, C8A, C8B, CA6, CACNA1E, CACNA1S, CAPN2, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, RUNX3, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD247, CD5L, TNFRSF8, CD34, CD48, CD53, CD58, CDA, CDK11B, CDC20, CDC42, CDKN2C, CD52, CENPF, RCC1, CHI3L1, CHI3L2, CHIT1, CHML, LYST, CHRM3, CHRNB2, CKS1B, CLCA1, CLCN6, CLCNKA, CLCNKB, CLK2, PLK3, CNN3, CNR2, COL8A2, COL9A2, COL11A1, COL16A1, COPA, CORT, CPT2, CR1, CR1L, CR2, CRABP2, CRP, CRYZ, CSF1, CSF3R, CSRP1, CTBS, CTH, CTPS1, CTSE, CTSK, CTSS, CYP2J2, CYP4A11, CYP4B1, DAB1, CD55, DBT, GADD45A, DDOST, DHX9, DFFA, DFFB, DHCR24, DIO1, DPH2, DPT, DPYD, DR1, DVL1, E2F2, ECE1, ECM1, S1PR1, EDN2, PHC2, EIF2D, EFNA1, EFNA3, EFNA4, CELSR2, MEGF6, EPHA2, ELAVL4, ELF3, ELK4, ENO1, ENSA, EPB41, EPHA8, EPHB2, EPHX1, EPRS, EPS15, ESRRG, ETV3, EXTL1, EXTL2, EYA3, F3, F5, F13B, FAAH, FABP3, FCER1A, FCER1G, FCGR1A, FCGR1B, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FGR, FH, FHL3, FOXE3, FOXD2, FLG, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, MTOR, NR5A2, FUCA1, ACKR1, IFI6, GABRD, GALE, GALNT2, GBA, GBP1, GBP2, GBP3, GFI1, GJA4, GJA5, GJA8, GJB3, GJB5, GCLM, GLUL, GNAI3, GNAT2, GNB1, GNG4, GNG5, SFN, GPR3, GPR25, GPX7, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H3F3A, HCRTR1, HDAC1, HDGF, CFH, CFHR1, CFHR2, ZBTB48, MR1, HLX, HMGN2, HMGCL, HMGCS2, HNRNPU, HPCA, HSD3B1, HSD3B2, HSD11B1, HSPA6, HSPA7, IGSF3, HSPG2, HTR1D, HTR6, ID3, IFI16, CYR61, IL6R, IL10, IL12RB2, TNFRSF9, ILF2, INPP5B, INSRR, IPP, IRF6, ITPKB, IVL, JAK1, JUN, KCNA2, KCNA3, KCNA10, KCNC4, KCND3, KCNH1, KCNJ9, KCNJ10, KCNK1, KCNK2, KCNN3, KISS1, LAD1, LAMB3, LAMC1, LAMC2, STMN1, LBR, LCK, LEPR, LGALS8, LMNA, LMX1A, LOR, LY9, TACSTD2, MAGOH, MARK1, MATN1, MCL1, CD46, SMCP, MDM4, MEF2D, MFAP2, MGST3, MNDA, MOV10, MPL, MPZ, MSH4, MTF1, MTHFR, MTR, MTX1, MUC1, MUTYH, MYBPH, MYCL, MYOC, MYOG, PPP1R12B, NASP, NBL1, NCF2, NDUFS2, NDUFS5, NEK2, NFIA, NFYC, NGF, NHLH1, NHLH2, NID1, NIT1, NOTCH2, NPPA, NPPB, NPR1, NRAS, NRDC, YBX1, NTRK1, ROR1, DDR2, NVL, OPRD1, ORC1, OVGP1, PAFAH2, PRDX1, PAX7, PBX1, CDK18, PDC, PDE4B, PDZK1, PEX10, PEX14, PFDN2, PFKFB2, PGD, PGM1, PIGC, PIGR, PIK3C2B, PIK3CD, PI4KB, PIN1P1, PKLR, PKP1, PLA2G2A, PLA2G4A, PLA2G5, PLOD1, PLXNA2, EXOSC10, PRRX1, POU2F1, POU3F1, PPOX, PPP1R8, PPP2R5A, PPT1, PRCC, PRELP, PRKAA2, PRKAB2, PRKACB, PKN2, PRKCZ, PROX1, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PTAFR, PTGER3, PTGFR, PTGFRN, PTGS2, QSOX1, PTPN7, PTPN14, PTPRC, PTPRF, PEX19, ABCD3, RAB3B, RAB4A, RAB13, RABGGTB, RABIF, RAP1A, RAP1GAP, RBBP4, RBBP5, REN, RFX5, RGS1, RGS2, RGS4, RGS7, RGS13, RGS16, RHCE, RHD, RIT1, RLF, RNASEL, RNF2, RNPEP, RNU1-4, SNORA73A, SNORD21, RORC, RPA2, RPE65, RPL5, RPL11, RPL22, RPS6KA1, RPS8, RPS27, RSC1A1, RXRG, RYR2, S100A1, SORT1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, SARS, SCNN1D, SCP2, XCL1, SDHB, SDHC, SELE, SELL, SELP, SFPQ, SRSF4, SHC1, ST3GAL3, STIL, SKI, SLAMF1, SLC1A7, SLC2A1, SLC2A5, SLC6A9, SLC9A1, SLC16A1, SNRPE, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SRM, SRP9, TROVE2, SSR2, STXBP3, XCL2, SYCP1, TAF12, TAF13, TAL1, TARBP1, CNTN2, TBCE, TBX15, TCEA3, ELOA, VPS72, TGFB2, LEFTY2, TGFBR3, THBS3, TCHH, TIE1, TLR5, GPR137B, TNFRSF1B, TNNI1, TNNT2, TNR, TP53BP2, TP73, TPM3, TPR, TRAF5, TRE-TTC3-1, TRNAG1, CCT3, TRN-GTT2-1, TSHB, TSNAX, TTC4, TUFT1, TNFSF4, TNFRSF4, UCK2, UQCRH, UROD, USF1, USP1, USH2A, VCAM1, VDAC1P4, WNT2B, WNT9A, ZSCAN20, ZNF124, ZBTB17, SLC30A1, SLC30A2, LUZP1, PRDM2, DNALI1, LRP8, LAPTM5, BSND, CSDE1, EVI5, DAP3, NPHS2, BTG2, PTP4A2, ARID1A, HIST3H3, CDC7, HIST2H2AA3, HIST2H2AC, HIST2H2BE, HIST2H4A, PIP5K1A, TAGLN2, BCAR3, ANXA9, SNHG3, NR0B2, RAD54L, GNPAT, DYRK3, TTF2, CDC42BPA, RGS5, PPFIA4, PIK3R3, MMP23B, MMP23A, KCNAB2, ITGA10, LMO4, FCN3, BLZF1, CDC14A, DEGS1, KMO, YARS, MKNK1, AKR7A2, PLPP3, RTCA, PTCH2, ALDH4A1, EIF3I, EIF4G3, VAMP4, PEA15, B4GALT3, B4GALT2, B3GALT2, TNFRSF25, ADAM15, PABPC4, TNFRSF14, TNFRSF18, FPGT, PEX11B, CREG1, CD84, PER3, FUBP1, EIF2B3, BCL10, RAB29, SELENBP1, TNFSF18, TAF1A, MPZL1, SH2D2A, ARTN, MAP3K6, ANGPTL1, DIRAS3, TBX19, FCGR2C, SLC16A4, PRPF3, KCNQ4, EXO1, ARHGEF2, DEDD, ZMYM4, ZMYM6, XPR1, FCMR, DHRS3, MAPKAPK2, GPR37L1, GPR52, SRSF11, VAMP3, ZFYVE9, CD101, SELENOF, ZRANB2, SNRNP40, ARHGAP29, AIM2, GGPS1, RASAL2, THEMIS2, ADAMTS4, TMEM59, CHD1L, H6PD, SOX13, PRDX6, CLCA3P, CLCA2, ISG15, IKBKE, PLCH2, HS2ST1, PDE4DIP, IPO13, SDC3, SLC25A44, KIAA0040, KDM4A, CROCC, PUM1, NOS1AP, TMEM63A, CEP104, RIMS3, TOMM20, EFCAB14, URB2, ARHGEF11, DNAJC6, CEP350, CEP170, LRIG2, SETDB1, ZC3H11A, SMG7, PLPPR4, UBAP2L, SV2A, KLHL21, SLC35E2, DENND4B, RABGAP1L, TMCC2, FAM20B, ZBTB40, LPGAT1, MFN2, KIF14, RBM8A, THRAP3, NR1I3, AKT3, INSL5, PIGK, SCAMP3, PTPRU, ARPC5, TSPAN2, TSPAN1, CELA3A, PDZK1IP1, WASF2, PATJ, PRG4, ANGPTL7, GPA33, STX6, HNRNPR, SRRM1, CNKSR1, SF3B4, ZMPSTE24, UBE4B, BCAS2, AKR1A1, WARS2, BPNT1, CEPT1, PIAS3, TESK2, TIMM17A, LRRN2, PPIE, VAV3, HAX1, MAD2L2, PPIH, ZBTB18, C1orf61, CAP1, LRRC41, SEMA6C, LAMTOR5, SLC19A2, IFI44, POLR3C, IVNS1ABP, TXNIP, PDPN, LEFTY1, SPHAR, PMVK, KHDRBS1, GMEB1, FAM189B, AP4B1, NUDC, PHTF1, MASP2, CAPN9, NES, KDM5B, AHCYL1, SRSF10, SDCCAG8, CFHR4, CFHR3, WDR3, OCLM, JTB, MTMR11, MAN1A2, UTS2, SF3A3, MLLT11, IFI44L, EBNA1BP2, SLC27A3, KIF2C, IL24, TDRKH, RER1, DNAJB4, ADAM30, RCAN3, FAF1, CD160, GLMN, HHLA3, CELF3, DDX20, DUSP10, MST1L, PADI2, PMF1, DUSP12, VPS45, LYPLA2, PARK7, CTRC, ACOT7, COG2, CLCA4, MTF2, DNAJC8, NTNG1, PLEKHA6, CLSTN1, FOXJ3, KHDC4, WDR47, KIFAP3, ATF6, SCMH1, AKR7A3, TTC39A, SPEN, KDM1A, RBM34, USP33, WDTC1, KIF21B, NMNAT2, EMC1, KIF1B, NFASC, POGZ, COLGALT2, MAST2, NCDN, CLCC1, SLC35D1, RGL1, PLEKHM2, SYT11, PRRC2C, FBXO28, RPRD2, OTUD3, KAZN, CAMTA1, ADGRL2, CAMSAP2, KIAA1107, ZCCHC11, SZT2, DNAJC16, UBR4, USP24, SRGAP2, SMG5, NCSTN, ATP13A2, CRB1, ITGB3BP, GPR161, TARDBP, CELA3B, SLC35A3, ABCB10, ICMT, MACF1, LRRC8B, ZNF281, SNAPIN, LPAR3, PADI4, DDAH1, TMEM50A, OPN3, PHLDA3, RUSC1, CA14, KPNA6, SSBP3, STX12, DSTYK, RAB3GAP2, CFAP45, LMOD1, MPC2, TRIM58, INTS7, OLFML2B, AHCTF1, C1orf43, CLIC4, NSL1, SYF2, RWDD3, PARS2, MMACHC, ZZZ3, ACOT11, CHD5, DNM3, TOR1AIP1, CHTOP, SZRD1, LDLRAP1, SERBP1, NOC2L, OR1C1, PTPN22, PHGDH, FBXO2, LCE2B, OR2M4, OR2L2, OPTC, FBXO6, PLA2G2D, AK5, MYCBP, OR10J1, HEYL, AGO1, OR2T1, RPS6KC1, RNF11, USP21, FOXD3, DIEXF, TRAPPC3, TAF5L, CACYBP, HSPB7, CHIA, SLC39A1, DISC2, DISC1, ARHGEF16, AHDC1, RNF115, KLHL20, TEKT2, SMPDL3B, ANGPTL3, LAMTOR2, FLVCR1, UBE2T, CNIH4, SSU72, TMOD4, GNL2, GPSM2, UBIAD1, PYCR2, NME7, ALG6, NENF, PADI1, IL19, CERS2, SLC25A24, PLA2G2E, DNTTIP2, WRAP73, CRNN, G0S2, IL20, SLC45A1, DCAF8, HP1BP3, F11R, TMED5, RRP15, GLRX2, BOLA1, DESI2, CELA2B, ZNF593, ZBTB7B, ZNF691, TXNDC12, TNNI3K, RRNAD1, ADIPOR1, SCCPDH, SH3GLB1, MECR, APH1A, UTP11, TRIM17, KCTD3, SDF4, MRTO4, PLEKHO1, HAO2, ACP6, TMEM69, MRPL37, IER5, HOOK1, SNX7, UCHL5, SUCO, HPCAL4, YTHDF2, GPR89B, HSD17B7, UFC1, DTL, ZCCHC17, TRIM33, METTL13, DPH5, HSPB11, OAZ3, PADI3, CYB5R1, CMPK1, ARID4B, CD244, GPR88, ERRFI1, DPM3, WNT4, YIPF1, FBXO42, MRPS21, TRMT13, TMCO1, ADAMTSL4, CRCT1, RNF186, SPATA6, EGLN1, MXRA8, L1TD1, HES2, MAP10, RSBN1, ZNHIT6, GPN2, LEPROT, FBLIM1, MED18, TRIT1, GIPC2, SWT1, GDAP2, FAM46C, GON4L, GPATCH4, PALMD, FNBP1L, ST7L, PQLC2, CASZ1, LAX1, RHBDL2, DUSP23, ADPRHL2, TRNAU1AP, ODR4, C1orf109, C1orf56, INTS11, C1orf123, C1orf159, MARC2, AURKAIP1, TTC22, MRPL20, CRYBG2, SUSD4, KIF26B, TMEM51, RALGPS2, GPATCH2, BSDC1, XKR8, TMEM39B, PRPF38B, HEATR1, CDCA8, LRRC8D, MSTO1, DARS2, ARHGEF10L, PRMT6, RNF220, VPS13D, EVA1B, GOLPH3L, ATAD3A, TMEM57, KLHDC8A, TRIM62, ETNK2, RAVER2, PANK4, KIRREL1, TMEM206, YY1AP1, ECHDC2, FGGY, MCOLN3, SLC22A15, YOD1, CAMK2N1, BATF3, SLC30A10, UBE2Q1, RNPC3, ITLN1, ASAP3, POMGNT1, PNRC2, LRRC40, DEPDC1, PIGV, ZNF692, NBPF1, IARS2, MAP7D1, IPO9, NDC1, NECAP2, IQCC, C1orf112, HHAT, DNAJC11, ENAH, NUP133, RCOR3, C1orf106, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, FAM212B, DMAP1, AJAP1, GNG12, SLC50A1, TMEM234, MTFR1L, SERTAD4, KYAT3, ERO1B, FMN2, SLAMF8, CDC42SE1, UBQLN4, TMEM167B, OLFML3, SMYD2, LHX9, OTUD7B, COQ8A, CTNNBIP1, RSRP1, AGTRAP, PITHD1, RAB25, PGLYRP4, ZNF695, RHBG, MAN1C1, SCYL3, GJC2, CAMK1G, NIPAL3, SELENON, ATP8B2, VANGL2, PBXIP1, S100A14, PLEKHG5, GATAD2B, AMIGO1, LRRC47, ODF2L, CGN, KIAA1324, DISP3, IGSF9, LRRC7, SIPA1L2, KIF17, ZNF687, ZSWIM5, POGK, KIAA1522, HCN3, CACHD1, MIER1, KIAA1614, BRINP2, HES4, CCDC181, GRHL3, SLAMF7, ZP4, CADM3, PTBP2, RHOU, PRUNE1, DNASE2B, DLGAP3, IL22RA1, HIVEP3, KLHL12, LGR6, GPBP1L1, HAPLN2, MIIP, GAS5, PAPPA2, CELA2A, BCAN, GPATCH3, TNN, MRPS14, DMRTB1, DMRTA2, CLSPN, PRDM16, OXCT2, RRAGC, ADGRL4, TINAGL1, P3H1, TFB2M, SEMA4A, TOR3A, RFWD2, GREM2, RGS18, PLA2G2F, MFSD14A, NUCKS1, SMAP2, ACBD3, SMYD3, ATPAF1, MARC1, S100PBP, MEAF6, RBM15, EXO5, CEP85, ARV1, NMNAT1, ELOVL1, AIDA, VWA1, DCLRE1B, MRPS15, MRPL9, PINK1, JMJD4, MARCKSL1, PRAMEF1, PRAMEF2, INTS3, NADK, ZFP69B, COA7, PHACTR4, AUNIP, SCNM1, ERI3, C1orf50, WDR77, C1orf116, CCDC28B, C1orf35, EFHD2, MMEL1, RSG1, FCRL2, NKAIN1, TTC13, EPS8L3, CDC73, MRPL24, MUL1, PGBD5, TNFAIP8L2, C1orf54, TMEM53, AKIRIN1, HECTD3, BEND5, VTCN1, YRDC, ZYG11B, NOL9, PPCS, LIN28A, SH3D21, TTLL7, SNIP1, C1orf115, HHIPL2, VASH2, AGMAT, WDR78, ZMYM1, ZNF669, RPAP2, ZNF672, MORN1, FAM110D, KIAA0319L, DHDDS, PAQR6, DENND2D, WLS, PCNX2, GPR157, TRIM46, MROH9, RPF1, SIKE1, ZC3H12A, SPSB1, TARS2, WDR26, TRIM45, EDEM3, FLAD1, TRAF3IP3, CPTP, ZNF436, TAS1R2, TAS1R1, SH3BP5L, NPL, GJA9, OR6N2, OR6K2, OR2L5, OR2G3, OR2G2, OR2C3, SYNC, CFHR5, TRIM11, C1orf21, ACTL8, ANKRD13C, NECTIN4, SNX27, ANP32E, SHCBP1L, TRMT1L, TSSK3, CCNL2, NUAK2, VANGL1, ST6GALNAC5, ISG20L2, HYI, FCRL5, FCRL4, SH3BGRL3, DDX59, NUF2, RASSF5, SESN2, ESPN, TAS1R3, ATAD3B, HMCN1, GPR61, MIXL1, STK40, SPRTN, TM2D1, FCAMR, REG4, OBSCN, TMEM222, TEX35, PLEKHN1, HORMAD1, TOMM40L, SYDE2, ZNF644, USP48, ZMYND12, NBPF3, LRRC8C, ZDHHC18, SGIP1, POLR3GL, SLC25A33, TMEM79, NTPCR, EFCAB2, DDI2, ACBD6, LZIC, PROK1, MAP3K21, EFCAB7, ZBTB37, NT5C1A, LCE3D, TRIM63, PSRC1, FAM167B, FCRLA, ZNF496, HPDL, AGBL4, MFSD2A, C1orf198, PPP1R15B, ATG4C, MAEL, PRPF38A, SYTL1, IGSF21, LSM10, C1orf94, DISP1, STRIP1, RGS8, SLC45A3, DOCK7, CFAP74, WNT3A, NAV1, SEC16B, AQP10, LHX4, SLAMF9, KIAA2013, THAP3, STPG1, PYGO2, ANGEL2, SPOCD1, ZNF697, IGFN1, NUP210L, BTF3L4, UBXN11, NEXN, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, TMEM183A, HIST3H2A, PIGM, IGSF8, C1orf158, LEMD1, ZNF670, FBXO44, ATPIF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, GNRHR2, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, FAM46B, COX20, RBP7, TSEN15, FAM129A, SNAP47, ACAP3, TADA1, THEM4, SH2D1B, SSX2IP, UBE2J2, OLFM3, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KDF1, CCSAP, LRRC38, AADACL3, PUSL1, B3GALT6, WDR63, KLHDC9, AXDND1, MAB21L3, IFFO2, HIST2H3C, SLC44A3, ATXN7L2, C1orf194, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, ATP6V1G3, ASB17, TYW3, ERICH3, LRRIQ3, TPRG1L, FAM213B, MYOM3, DMBX1, OR10J5, TMCO2, ZNF684, TCEANC2, PODN, LRRC39, GJB4, HMGB4, RNF19B, A3GALT2, DCST2, DNAH14, OR2B11, ZNF648, TEDDM1, C1orf122, OSCP1, C1orf216, KLHDC7A, VWA5B1, UBXN10, C1orf87, ARL8A, SYT2, GOLT1A, UHMK1, FCRLB, WDR64, C1orf131, LIX1L, SPATA17, EDARADD, KLF17, TMEM125, TSACC, IQGAP3, NAXE, ARHGEF19, MRPL55, HIST3H2BB, DRAM2, PIFO, C1orf162, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, TATDN3, S100A16, NEK7, ACTRT2, MIB2, ITLN2, SYT6, C1orf74, CREB3L4, C1orf127, BROX, SAMD11, SAMD13, C1orf52, PHF13, CIART, TMEM56, NBPF4, UBE2U, SLC35F3, HFE2, ANKRD35, FAM163A, B3GALNT2, MFSD4A, PM20D1, GCSAML, SLC30A7, CCDC27, KNCN, MOB3C, GLIS1, NBPF12, LELP1, RC3H1, DCDC2B, ZNF362, DCST1, CNIH3, MANEAL, IL23R, METTL11B, FAM78B, SHISA4, EXOC8, PDIK1L, BNIPL, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CCDC17, LRRC71, SRARP, RNF187, PYHIN1, SPATA45, FAM71A, SLC2A7, DENND2C, GBP6, FNDC7, DENND1B, TDRD5, TOR1AIP2, CALML6, IFNLR1, CITED4, LEXM, SPRR4, KANK4, SASS6, SDE2, CNST, FAM43B, HFM1, PAQR7, TTC24, CCDC185, UBL4B, AGO3, AGO4, LCE4A, ALG14, FAM76A, FYB2, TMEM201, TMEM61, CYP4Z1, FAAP20, CDCP2, SLC5A9, CC2D1B, NBPF11, NUDT17, TXLNA, TCTEX1D1, PLD5, C1orf100, SPAG17, SLFNL1, KRTCAP2, CRTC2, IBA57, HIPK1, SLC44A5, ATAD3C, AKR7L, TMEM9, FNDC5, EPHX4, TTLL10, AKNAD1, SLC41A1, OR2T6, LCE5A, TMCO4, MCOLN2, COL24A1, PCSK9, SYT14, ST6GALNAC3, CATSPERE, ZNF683, ARHGAP30, CFAP126, NEGR1, ASPM, MDS2, CYP4X1, MAGI3, TIPRL, NPHP4, BEST4, PGBD2, FAM19A3, RIIAD1, THEM5, C1orf167, OR2L13, SLC9C2, OR14A16, CYP4A22, C1orf185, NBPF15, FAM102B, SYPL2, CYB561D1, ANKRD34A, RUSC1-AS1, RSPO1, EPHA10, SNHG28, SPATA46, ZNF326, BTBD8, RIMKLA, SLC25A34, LIN9, VN1R5, HIST2H2AB, PPM1J, HIST2H3A, FAM151A, S100A7A, LINGO4, RXFP4, ANKRD45, C1orf174, KLHL17, TMEM240, TMEM52, BRINP3, ZBTB8OS, TFAP2E, ZNF678, PRSS38, CCDC190, C1orf228, ZFP69, RD3, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, CCDC18, OR6F1, OR2W3, OR2T8, OR2T3, MYBPHL, OR10R2, FCRL6, KCNT2, BARHL2, NBPF7, TCTEX1D4, OR2T29, SERINC2, SHISAL2A, FAM131C, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PADI6, RGSL1, BMP8A, IRF2BP2, ZBTB41, DRAXIN, SPATA21, SVBP, TEX38, MROH7, MIGA1, PEAR1, SFT2D2, MIA3, STUM, FAM89A, AGRN, CENPS, CATSPER4, NSUN4, GPR153, ILDR2, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, TRNP1, CD164L2, TRABD2B, LDLRAD1, GBP7, C1orf146, FAM69A, SLC6A17, NOTCH2NL, LYSMD1, HRNR, FLG2, C1orf189, C1orf53, TMEM81, CAPN8, COA6, C1orf229, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, UOX, FRRS1, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, TMEM200B, PRAMEF4, PRAMEF13, SH2D5, NCMAP, C1orf141, C1orf226, NBPF9, FAM177B, RNF223, LDLRAD2, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, APOBEC4, MIR101-1, MIR137, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR181A1, MIR214, MIR215, MIR29C, MIR30C1, MIR34A, MIR9-1, RGS21, LHX8, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, FAM183A, ZYG11A, BCL2L15, HIST2H2BF, ETV3L, LRRC52, RHEX, TRIM67, MAP1LC3C, ANKRD65, PRAMEF7, OR10J3, OR2W5, OR13G1, KPRP, LCE6A, RBMXL1, LURAP1, PEF1, MIR429, FAM72C, HIST2H4B, PRR9, C1orf147, CYB5RL, MIR205HG, FLVCR1-AS1, CYMP, KIAA0754, TMEM88B, FNDC10, PPIAL4G, PPIAL4D, PRAMEF19, PRAMEF20, MT1HL1, S100A7L2, LACTBL1, LYPD8, SRGAP2B, ASCL5, ZBTB8A, NBPF6, SRGAP2C, PPIAL4A, GPR89A, PPIAL4C, HIST2H3D, PRAMEF22, PRAMEF15, FAM72B, PRAMEF16, PCP4L1, MIR551A, HIST2H2AA4, ZBTB8B, CCDC30, CDK11A, SLC35E2B, FAM72D, NBPF8, PPIAL4F, TEX46, FAM72A, PPIAL4E, PFN1P2, FAM229A, C1orf132, BTNL10, C1orf68, TSTD1, FOXO6, LINC01783, NBPF10, FCGR1CP, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, HYDIN2, ZBED6, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, NBPF5P, CENPS-CORT, FPGT-TNNI3K, PMF1-BGLAP, MINOS1-NBL1, DNM3OS, NEGR1-IT1, ZRANB2-AS2, LINC00538, FALEC, LINC00853, LOC100996263, LOC101927434, LOC101927851, LOC101928034, LINC01649, LOC101929516
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
92.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
ABL2, ADAR, ALDH9A1, APCS, APOA2, FASLG, ARNT, ASTN1, SERPINC1, ATP1A2, ATP1A4, ATP1B1, BGLAP, CASQ1, CD1A, CD1B, CD1C, CD1D, CD1E, CD247, CD5L, CD48, CHRNB2, CKS1B, CLK2, COPA, CRABP2, CRP, CTSK, CTSS, DPT, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ETV3, F5, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FLG, FMO1, FMO2, FMO3, FMO4, ACKR1, GBA, HDGF, HSPA6, HSPA7, IFI16, IL6R, ILF2, INSRR, IVL, KCNJ9, KCNJ10, KCNN3, LMNA, LMX1A, LOR, LY9, MCL1, SMCP, MEF2D, MGST3, MNDA, MPZ, MTX1, MUC1, MYOC, NDUFS2, NHLH1, NIT1, NPR1, NTRK1, DDR2, PBX1, PFDN2, PIGC, PI4KB, PKLR, PRRX1, POU2F1, PPOX, PRCC, PSMB4, PSMD4, QSOX1, PEX19, RAB13, RFX5, RGS4, RIT1, RORC, RPS27, RXRG, S100A1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, XCL1, SDHC, SELE, SELL, SELP, SHC1, SLAMF1, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SSR2, XCL2, VPS72, THBS3, TCHH, TNR, TPM3, CCT3, TUFT1, TNFSF4, UCK2, USF1, DAP3, NPHS2, HIST2H2AC, HIST2H2BE, PIP5K1A, TAGLN2, ANXA9, RGS5, BLZF1, VAMP4, PEA15, B4GALT3, ADAM15, CREG1, CD84, SELENBP1, TNFSF18, MPZL1, SH2D2A, ANGPTL1, TBX19, FCGR2C, PRPF3, ARHGEF2, DEDD, GPR52, AIM2, RASAL2, ADAMTS4, PRDX6, SLC25A44, KIAA0040, NOS1AP, ARHGEF11, CEP350, SETDB1, UBAP2L, SV2A, DENND4B, RABGAP1L, FAM20B, NR1I3, SCAMP3, GPA33, SF3B4, HAX1, C1orf61, SEMA6C, SLC19A2, PMVK, FAM189B, NES, JTB, MTMR11, MLLT11, SLC27A3, TDRKH, CELF3, PMF1, DUSP12, VPS45, KHDC4, KIFAP3, ATF6, POGZ, SYT11, PRRC2C, RPRD2, SMG5, NCSTN, GPR161, SNAPIN, RUSC1, CA14, CFAP45, MPC2, OLFML2B, C1orf43, DNM3, TOR1AIP1, CHTOP, LCE2B, OR10J1, SNORD81, SNORD79, SNORD80, SNORD47, SNORD44, USP21, CACYBP, SLC39A1, KLHL20, LAMTOR2, TMOD4, NME7, CERS2, CRNN, DCAF8, F11R, BOLA1, ZBTB7B, RRNAD1, APH1A, PLEKHO1, SUCO, HSD17B7, UFC1, METTL13, OAZ3, CD244, DPM3, MRPS21, TMCO1, ADAMTSL4, CRCT1, GON4L, GPATCH4, DUSP23, C1orf56, RALGPS2, MSTO1, DARS2, GOLPH3L, KIRREL1, YY1AP1, UBE2Q1, ITLN1, C1orf112, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, SLC50A1, SLAMF8, CDC42SE1, UBQLN4, OTUD7B, RAB25, PGLYRP4, RHBG, SCYL3, ATP8B2, VANGL2, PBXIP1, S100A14, GATAD2B, CGN, IGSF9, ZNF687, POGK, HCN3, BRINP2, CCDC181, SLAMF7, CADM3, PRUNE1, HAPLN2, GAS5, PAPPA2, BCAN, TNN, MRPS14, SEMA4A, TOR3A, RFWD2, MRPL9, INTS3, SCNM1, LINC00626, FCRL2, MRPL24, TNFAIP8L2, C1orf54, PAQR6, TRIM46, MROH9, TARS2, FLAD1, OR6N2, OR6K2, NECTIN4, SNX27, ANP32E, ISG20L2, FCRL5, FCRL4, NUF2, TEX35, HORMAD1, TOMM40L, TMEM79, ZBTB37, LCE3D, FCRLA, MAEL, SEC16B, AQP10, LHX4, SLAMF9, PYGO2, NUP210L, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, PIGM, IGSF8, GLMP, PGLYRP3, SLAMF6, FCRL1, FCRL3, TADA1, THEM4, SH2D1B, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KLHDC9, AXDND1, OR10J5, DCST2, UHMK1, FCRLB, TSACC, IQGAP3, NAXE, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, S100A16, ITLN2, CREB3L4, CIART, FAM163A, LELP1, RC3H1, DCST1, METTL11B, FAM78B, BNIPL, LRRC71, PYHIN1, TDRD5, TOR1AIP2, SPRR4, TTC24, LCE4A, FLJ23867, KRTCAP2, CRTC2, LCE5A, ARHGAP30, CFAP126, TIPRL, RIIAD1, THEM5, SLC9C2, RUSC1-AS1, SNHG28, SPATA46, LINC01142, HIST2H2AB, S100A7A, LINGO4, FLG-AS1, RXFP4, ANKRD45, CCDC190, OR10R2, FCRL6, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PEAR1, SFT2D2, ILDR2, LYSMD1, HRNR, FLG2, LINC00302, C1orf189, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, OR10J4, VSIG8, C1orf226, LOC400794, CLEC20A, C1orf220, MIR199A2, MIR214, MIR9-1, ETV3L, LRRC52, OR10J3, KPRP, LCE6A, HIST2H4B, ADAMTSL4-AS1, PRR9, MIR488, SNORD74, ASH1L-AS1, S100A7L2, LINC01704, PCP4L1, SCARNA3, SCARNA4, SNORA80E, SNORD75, SNORD76, SNORD77, SNORD78, MIR554, MIR555, MIR556, MIR557, MIR92B, LOC729867, TEX50, MIR765, MIR190B, MIR921, C1orf68, LOC100131107, TSTD1, CADM3-AS1, LOC100132111, LOC100147773, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-2, TRG-TCC2-6, TRX-CAT1-1, TRE-CTC1-5, TRL-CAG1-6, TRP-AGG2-1, TRG-TCC2-5, TRE-CTC1-2, TRD-GTC2-5, TRN-GTT1-1, TRD-GTC2-4, TRL-CAG1-5, TRG-TCC2-3, TRG-GCC1-4, TRR-TCT4-1, TRG-TCC2-4, TRP-CGG1-1, TRG-GCC1-3, TRD-GTC2-2, TRG-GCC1-2, TRE-CTC1-4, TRG-TCC2-2, TRG-GCC4-1, TRD-GTC2-3, TRL-CAG1-3, TRL-CAG1-4, TRG-GCC1-1, TRV-CAC1-1, TRG-GCC2-1, TRE-CTC1-3, TRL-CAG1-1, TRN-GTT2-2, TRE-TTC4-2, TRD-GTC2-1, C2CD4D, LOC100287049, MIR1295A, RASAL2-AS1, MIR1255B2, MIR3119-1, MIR4259, MIR3120, MIR4257, MIR3119-2, MIR4258, MIR3658, LINC01133, DCST1-AS1, KIRREL1-IT1, LOC100505795, LOC100505918, LOC100506023, GAS5-AS1, LOC100507670, PMF1-BGLAP, TNFAIP8L2-SCNM1, MIR4424, MIR4654, DNM3OS, MIR1295B, MIR5698, MIR5187, FALEC, UBE2Q1-AS1, DNM3-IT1, CTXND2, GBAT2, LINC01527, LOC101928009, LOC101928034, LOC101928101, LOC101928120, LOC101928177, LOC101928372, LOC101928404, LINC01363, LOC101928565, LOC101928596, LOC101928650, LOC101928673, LOC101928696, LINC01657, LINC01741, LINC00970, MIR6737, MIR6738, MIR6878, MIR8083, LOC102724601, LINC01645, LOC105371433, LOC105371458, LINC01675, LINC01681, SCARNA26A, SCARNA26B, SNORA103, POP3
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
93.
GRCh37:
Chr1:154538977-157593874
GRCh38:
Chr1:154566501-157624084
See casesPathogenic
(Mar 19, 2013)
no assertion criteria provided
94.
GRCh37:
Chr1:154548165-155262692
GRCh38:
Chr1:154575689-155292901
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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