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Items: 1 to 100 of 197

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
B3GALT6Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasiaLikely pathogenic
(Jan 25, 2018)
criteria provided, single submitterVCV000666963
2.
GRCh37:
Chr1:554375-9779842
Neurodevelopmental disorderPathogenic
(Apr 9, 2019)
no assertion criteria providedVCV000635907
3.
GRCh37:
Chr1:852863-4203509
Distal trisomy 1p36Pathogenic
(Mar 25, 2016)
no assertion criteria providedVCV000427642
4.
GRCh37:
Chr1:909238-16736132
RERE, CA6, CASP9, TNFRSF8, CDK11B, CLCN6, CLCNKA, CLCNKB, CORT, DFFA, DFFB, DVL1, MEGF6, EPHA2, ENO1, MTOR, GABRD, GNB1, ZBTB48, TNFRSF9, MTHFR, NPPA, NPPB, PEX10, PEX14, PGD, PIK3CD, PLOD1, EXOSC10, PRKCZ, RPL22, RSC1A1, SCNN1D, SKI, SLC2A5, SRM, TNFRSF1B, TP73, TNFRSF4, ZBTB17, PRDM2, MMP23B, KCNAB2, TNFRSF25, TNFRSF14, TNFRSF18, PER3, DHRS3, VAMP3, H6PD, ISG15, PLCH2, CEP104, KLHL21, SLC35E2A, MFN2, ANGPTL7, UBE4B, MAD2L2, PDPN, MASP2, UTS2, RER1, PARK7, CTRC, ACOT7, CLSTN1, SPEN, KIF1B, PLEKHM2, KAZN, CAMTA1, DNAJC16, TARDBP, ICMT, CHD5, SZRD1, FBXO2, FBXO6, HSPB7, ARHGEF16, SSU72, UBIAD1, WRAP73, SLC45A1, CELA2B, SDF4, ERRFI1, FBXO42, MXRA8, HES2, FBLIM1, CASZ1, INTS11, C1orf159, AURKAIP1, MRPL20, TMEM51, VPS13D, ATAD3A, PANK4, DNAJC11, AJAP1, CTNNBIP1, AGTRAP, PLEKHG5, LRRC47, DISP3, HES4, MIIP, CELA2A, PRDM16, NMNAT1, VWA1, PRAMEF1, PRAMEF2, NADK, EFHD2, MMEL1, CPLANE2, NOL9, AGMAT, MORN1, GPR157, SPSB1, CPTP, TAS1R1, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, SLC25A33, DDI2, LZIC, CFAP74, KIAA2013, THAP3, C1orf158, FBXO44, FHAD1, RBP7, ACAP3, UBE2J2, LRRC38, AADACL3, PUSL1, B3GALT6, TPRG1L, PRXL2B, ARHGEF19, ACTRT2, MIB2, C1orf127, PHF13, CCDC27, SRARP, SLC2A7, CALML6, TMEM201, FAAP20, ATAD3C, TTLL10, NPHP4, C1orf167, SLC25A34, C1orf174, TMEM240, TMEM52, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, DRAXIN, SPATA21, AGRN, CENPS, GPR153, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PRAMEF4, PRAMEF13, RNF223, MIR200A, MIR200B, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, ANKRD65, PRAMEF7, MIR429, TMEM88B, FNDC10, PRAMEF19, PRAMEF20, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, CDK11A, SLC35E2B, TTC34, ENO1-AS1, CENPS-CORT
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria providedVCV000221357
5.
GRCh37:
Chr1:909238-24706269
ALPL, RERE, C1QA, C1QB, C1QC, CA6, CAPZB, CASP9, TNFRSF8, CDA, CDK11B, CDC42, CLCN6, CLCNKA, CLCNKB, CNR2, CORT, DDOST, DFFA, DFFB, DVL1, E2F2, ECE1, MEGF6, EPHA2, ENO1, EPHA8, EPHB2, MTOR, FUCA1, GABRD, GALE, GNB1, ZBTB48, HMGCL, HSPG2, HTR1D, HTR6, ID3, TNFRSF9, MFAP2, MTHFR, NBL1, NPPA, NPPB, PAX7, PEX10, PEX14, PGD, PIK3CD, PLA2G2A, PLA2G5, PLOD1, EXOSC10, PRKCZ, RAP1GAP, RNU1-4, RPL11, RPL22, RSC1A1, SCNN1D, SDHB, SKI, SLC2A5, SRM, TCEA3, ELOA, TNFRSF1B, TP73, TRE-TTC3-1, TRNAG1, TNFRSF4, ZBTB17, LUZP1, PRDM2, MMP23B, KCNAB2, AKR7A2, ALDH4A1, EIF4G3, TNFRSF25, TNFRSF14, TNFRSF18, PER3, DHRS3, VAMP3, H6PD, ISG15, PLCH2, CROCC, CEP104, KLHL21, SLC35E2A, ZBTB40, MFN2, CELA3A, ANGPTL7, HNRNPR, UBE4B, MAD2L2, PDPN, MASP2, SRSF10, UTS2, RER1, MST1L, PADI2, LYPLA2, PARK7, CTRC, ACOT7, CLSTN1, AKR7A3, SPEN, KDM1A, EMC1, KIF1B, PLEKHM2, OTUD3, KAZN, CAMTA1, DNAJC16, UBR4, ATP13A2, TARDBP, CELA3B, ICMT, PADI4, CHD5, SZRD1, FBXO2, FBXO6, PLA2G2D, HSPB7, ARHGEF16, SSU72, UBIAD1, PADI1, PLA2G2E, WRAP73, SLC45A1, HP1BP3, CELA2B, SDF4, MRTO4, PADI3, ERRFI1, WNT4, FBXO42, RNF186, MXRA8, HES2, FBLIM1, SLC66A1, CASZ1, INTS11, C1orf159, AURKAIP1, MRPL20, TMEM51, ARHGEF10L, VPS13D, ATAD3A, PANK4, CAMK2N1, ASAP3, PNRC2, NBPF1, NECAP2, DNAJC11, RCC2, AJAP1, CTNNBIP1, AGTRAP, PITHD1, PLEKHG5, LRRC47, DISP3, KIF17, HES4, GRHL3, IL22RA1, MIIP, CELA2A, PRDM16, PLA2G2F, NMNAT1, VWA1, PINK1, PRAMEF1, PRAMEF2, NADK, EFHD2, MMEL1, CPLANE2, MUL1, NOL9, AGMAT, MORN1, GPR157, SPSB1, CPTP, ZNF436, TAS1R2, TAS1R1, ACTL8, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, USP48, NBPF3, SLC25A33, DDI2, LZIC, IGSF21, CFAP74, KIAA2013, THAP3, STPG1, C1orf158, FBXO44, FHAD1, RBP7, ACAP3, UBE2J2, LRRC38, AADACL3, PUSL1, B3GALT6, IFFO2, TPRG1L, PRXL2B, MYOM3, KLHDC7A, VWA5B1, UBXN10, ARHGEF19, ACTRT2, MIB2, C1orf127, PHF13, CCDC27, SRARP, SLC2A7, CALML6, IFNLR1, FAM43B, TMEM201, FAAP20, ATAD3C, AKR7L, TTLL10, TMCO4, MDS2, NPHP4, C1orf167, SLC25A34, C1orf174, TMEM240, TMEM52, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, AGRN, CENPS, GPR153, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, PRAMEF4, PRAMEF13, SH2D5, RNF223, LDLRAD2, MIR200A, MIR200B, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, MICOS10, ANKRD65, PRAMEF7, MIR429, TMEM88B, FNDC10, PRAMEF19, PRAMEF20, LACTBL1, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, CDK11A, SLC35E2B, TEX46, LINC01783, TRQ-CTG14-1, TTC34, ENO1-AS1, CENPS-CORT, MICOS10-NBL1
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria providedVCV000221334
6.
GRCh37:
Chr1:1168046
GRCh38:
Chr1:1232666
B3GALT6E130KSpondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2Uncertain significance
(Apr 23, 2018)
criteria provided, single submitterVCV000582960
7.
GRCh37:
Chr1:1167621
GRCh38:
Chr1:1232241
B3GALT6not specifiedLikely benign
(Feb 12, 2018)
criteria provided, single submitterVCV000515496
8.
GRCh37:
Chr1:1167636
GRCh38:
Chr1:1232256
B3GALT6not specifiedLikely benign
(Oct 20, 2016)
criteria provided, single submitterVCV000390144
9.
GRCh37:
Chr1:1167659
GRCh38:
Chr1:1232279
B3GALT6M1VSpondyloepimetaphyseal dysplasia with joint laxityPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060484
10.
GRCh37:
Chr1:1167670
GRCh38:
Chr1:1232290
B3GALT6not specifiedLikely benign
(Jun 19, 2017)
criteria provided, single submitterVCV000518030
11.
GRCh37:
Chr1:1167674
GRCh38:
Chr1:1232294
B3GALT6R6WEhlers-Danlos syndrome, progeroid type, 2Pathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060493
12.
GRCh37:
Chr1:1167675
GRCh38:
Chr1:1232295
B3GALT6R6QSpondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2, not provided
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000429685
13.
GRCh37:
Chr1:1167677-1167688
GRCh38:
Chr1:1232297-1232308
B3GALT6not providedUncertain significance
(Apr 13, 2017)
criteria provided, single submitterVCV000426491
14.
GRCh37:
Chr1:1167680-1167694
GRCh38:
Chr1:1232300-1232314
B3GALT6not specified, Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2
Benign/Likely benign
(Dec 7, 2017)
criteria provided, multiple submitters, no conflictsVCV000450224
15.
GRCh37:
Chr1:1167680
GRCh38:
Chr1:1232300
B3GALT6W8Gnot providedUncertain significance
(Feb 5, 2015)
criteria provided, single submitterVCV000193479
16.
GRCh37:
Chr1:1167689
GRCh38:
Chr1:1232309
B3GALT6R11Wnot providedUncertain significance
(May 17, 2016)
criteria provided, single submitterVCV000386485
17.
GRCh37:
Chr1:1167693
GRCh38:
Chr1:1232313
B3GALT6A12GSpondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2, not provided
Uncertain significance
(Jul 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000450501
18.
GRCh37:
Chr1:1167704
GRCh38:
Chr1:1232324
B3GALT6not specifiedLikely benign
(Dec 9, 2016)
criteria provided, single submitterVCV000391547
19.
GRCh37:
Chr1:1167712
GRCh38:
Chr1:1232332
B3GALT6not specifiedLikely benign
(Jul 10, 2017)
criteria provided, single submitterVCV000510548
20.
GRCh37:
Chr1:1167735
GRCh38:
Chr1:1232355
B3GALT6L26Pnot providedUncertain significance
(Jan 18, 2017)
criteria provided, single submitterVCV000498895
21.
GRCh37:
Chr1:1167765
GRCh38:
Chr1:1232385
B3GALT6P36Lnot specifiedUncertain significance
(Jul 27, 2017)
criteria provided, single submitterVCV000392324
22.
GRCh37:
Chr1:1167796
GRCh38:
Chr1:1232416
B3GALT6Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2, not specified
Benign/Likely benign
(Dec 6, 2017)
criteria provided, multiple submitters, no conflictsVCV000193478
23.
GRCh37:
Chr1:1167823
GRCh38:
Chr1:1232443
B3GALT6not specifiedLikely benign
(Sep 26, 2017)
criteria provided, single submitterVCV000512327
24.
GRCh37:
Chr1:1167838
GRCh38:
Chr1:1232458
B3GALT6not providedUncertain significance
(Jun 21, 2016)
criteria provided, single submitterVCV000288791
25.
GRCh37:
Chr1:1167851
GRCh38:
Chr1:1232471
B3GALT6S65GSpondyloepimetaphyseal dysplasia with joint laxityPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060488
26.
GRCh37:
Chr1:1167858
GRCh38:
Chr1:1232478
B3GALT6P67LSpondyloepimetaphyseal dysplasia with joint laxityPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060489
27.
GRCh37:
Chr1:1167894
GRCh38:
Chr1:1232514
B3GALT6T79RSpondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2Uncertain significance
(Dec 20, 2017)
criteria provided, single submitterVCV000568475
28.
GRCh37:
Chr1:1167897
GRCh38:
Chr1:1232517
B3GALT6W80*not providedLikely pathogenic
(Oct 16, 2017)
criteria provided, single submitterVCV000452846
29.
GRCh37:
Chr1:1167971
GRCh38:
Chr1:1232591
B3GALT6E105Qnot providedUncertain significance
(Sep 30, 2018)
criteria provided, single submitterVCV000623665
30.
GRCh37:
Chr1:1167981-1168002
GRCh38:
Chr1:1232601-1232622
B3GALT6A108fsSpondyloepimetaphyseal dysplasia with joint laxity, type 1, with fracturesPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060497
31.
GRCh37:
Chr1:1167996
GRCh38:
Chr1:1232616
B3GALT6Q113Rnot providedUncertain significance
(Mar 31, 2017)
criteria provided, single submitterVCV000424885
32.
GRCh37:
Chr1:1167999
GRCh38:
Chr1:1232619
B3GALT6A114ESpondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2Uncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000661179
33.
GRCh37:
Chr1:1168011
GRCh38:
Chr1:1232631
B3GALT6D118fsEhlers-Danlos syndrome, progeroid type, 2Pathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060490
34.
GRCh37:
Chr1:1168023-1168025
GRCh38:
Chr1:1232643-1232645
B3GALT6not providedUncertain significance
(Aug 4, 2016)
criteria provided, single submitterVCV000421834
35.
GRCh37:
Chr1:1168024
GRCh38:
Chr1:1232644
B3GALT6not specifiedLikely benign
(Feb 23, 2018)
criteria provided, single submitterVCV000508639
36.
GRCh37:
Chr1:1168025
GRCh38:
Chr1:1232645
B3GALT6P123Snot providedUncertain significance
(Jul 5, 2016)
criteria provided, single submitterVCV000387709
37.
GRCh37:
Chr1:1168073-1168081
GRCh38:
Chr1:1232693-1232701
B3GALT6Ehlers-Danlos syndrome, progeroid type, 2Pathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060494
38.
GRCh37:
Chr1:1168104
GRCh38:
Chr1:1232724
B3GALT6F149fsSpondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2Uncertain significance
(Oct 30, 2017)
criteria provided, single submitterVCV000541338
39.
GRCh37:
Chr1:1168115
GRCh38:
Chr1:1232735
B3GALT6L153Inot specifiedUncertain significance
(Nov 9, 2016)
criteria provided, single submitterVCV000390636
40.
GRCh37:
Chr1:1168124
GRCh38:
Chr1:1232744
B3GALT6D156NSpondyloepimetaphyseal dysplasia with joint laxityPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060486
41.
GRCh37:
Chr1:1168133
GRCh38:
Chr1:1232753
B3GALT6S159Pnot providedUncertain significance
(Dec 21, 2016)
criteria provided, single submitterVCV000498732
42.
GRCh37:
Chr1:1168135
GRCh38:
Chr1:1232755
B3GALT6not specifiedLikely benign
(Nov 28, 2017)
criteria provided, single submitterVCV000508739
43.
GRCh37:
Chr1:1168141
GRCh38:
Chr1:1232761
B3GALT6not providedLikely benign
(Apr 25, 2018)
criteria provided, single submitterVCV000679473
44.
GRCh37:
Chr1:1168173
GRCh38:
Chr1:1232793
B3GALT6A172Vnot specifiedUncertain significance
(Nov 25, 2016)
criteria provided, single submitterVCV000373234
45.
GRCh37:
Chr1:1168180
GRCh38:
Chr1:1232800
B3GALT6E174Dnot specifiedBenign
(Oct 18, 2016)
criteria provided, multiple submitters, no conflictsVCV000281204
46.
GRCh37:
Chr1:1168203
GRCh38:
Chr1:1232823
B3GALT6Y182CEhlers-Danlos syndrome, progeroid type, 2Pathogenic
(Mar 29, 2019)
no assertion criteria providedVCV000624636
47.
GRCh37:
Chr1:1168214
GRCh38:
Chr1:1232834
B3GALT6F186LSpondyloepimetaphyseal dysplasia with joint laxityPathogenic
(Sep 18, 2017)
no assertion criteria providedVCV000522415
48.
GRCh37:
Chr1:1168240
GRCh38:
Chr1:1232860
B3GALT6not specifiedLikely benign
(Sep 5, 2017)
criteria provided, single submitterVCV000511844
49.
GRCh37:
Chr1:1168241
GRCh38:
Chr1:1232861
B3GALT6G195Rnot specified, not providedUncertain significance
(Sep 30, 2018)
criteria provided, multiple submitters, no conflictsVCV000390607
50.
GRCh37:
Chr1:1168243
GRCh38:
Chr1:1232863
B3GALT6not providedUncertain significance
(May 25, 2018)
criteria provided, single submitterVCV000597117
51.
GRCh37:
Chr1:1168245
GRCh38:
Chr1:1232865
B3GALT6G196Vnot providedUncertain significance
(Nov 10, 2016)
criteria provided, multiple submitters, no conflictsVCV000281706
52.
GRCh37:
Chr1:1168246
GRCh38:
Chr1:1232866
B3GALT6not providedPathogenic
(May 22, 2015)
criteria provided, single submitterVCV000427130
53.
GRCh37:
Chr1:1168246
GRCh38:
Chr1:1232866
B3GALT6R197fsEhlers-Danlos syndrome, progeroid type, 2Pathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060492
54.
GRCh37:
Chr1:1168262
GRCh38:
Chr1:1232882
B3GALT6A202Tnot providedUncertain significance
(Jan 30, 2017)
criteria provided, single submitterVCV000423210
55.
GRCh37:
Chr1:1168277
GRCh38:
Chr1:1232897
B3GALT6D207HSpondyloepimetaphyseal dysplasia with joint laxity, type 1, with fracturesPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060495
56.
GRCh37:
Chr1:1168288
GRCh38:
Chr1:1232908
B3GALT6not specifiedLikely benign
(Aug 29, 2017)
criteria provided, single submitterVCV000511742
57.
GRCh37:
Chr1:1168307
GRCh38:
Chr1:1232927
B3GALT6G217SSpondyloepimetaphyseal dysplasia with joint laxity, type 1, with fracturesPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060496
58.
GRCh37:
Chr1:1168313
GRCh38:
Chr1:1232933
B3GALT6V219MSpondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2Uncertain significance
(Dec 20, 2017)
criteria provided, single submitterVCV000568476
59.
GRCh37:
Chr1:1168352
GRCh38:
Chr1:1232972
B3GALT6R232CSpondyloepimetaphyseal dysplasia with joint laxityPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060485
60.
GRCh37:
Chr1:1168357
GRCh38:
Chr1:1232977
B3GALT6not providedUncertain significance
(Sep 5, 2016)
criteria provided, single submitterVCV000290128
61.
GRCh37:
Chr1:1168411
GRCh38:
Chr1:1233031
B3GALT6not specified, not providedConflicting interpretations of pathogenicity
(Jan 24, 2018)
criteria provided, conflicting interpretationsVCV000283369
62.
GRCh37:
Chr1:1168476
GRCh38:
Chr1:1233096
B3GALT6N273Snot providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitterVCV000453100
63.
GRCh37:
Chr1:1168483
GRCh38:
Chr1:1233103
B3GALT6not specifiedLikely benign
(Mar 13, 2018)
criteria provided, single submitterVCV000516035
64.
GRCh37:
Chr1:1168492
GRCh38:
Chr1:1233112
B3GALT6not providedUncertain significance
(Oct 8, 2015)
criteria provided, single submitterVCV000283589
65.
GRCh37:
Chr1:1168511
GRCh38:
Chr1:1233131
B3GALT6D285Nnot providedUncertain significance
(Oct 8, 2015)
criteria provided, single submitterVCV000283597
66.
GRCh37:
Chr1:1168557
GRCh38:
Chr1:1233177
B3GALT6C300SSpondyloepimetaphyseal dysplasia with joint laxityPathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060487
67.
GRCh37:
Chr1:1168567
GRCh38:
Chr1:1233187
B3GALT6not specifiedLikely benign
(Aug 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000193477
68.
GRCh37:
Chr1:1168583
GRCh38:
Chr1:1233203
B3GALT6S309TEhlers-Danlos syndrome, progeroid type, 2Pathogenic
(Jun 6, 2013)
no assertion criteria providedVCV000060491
69.
GRCh37:
Chr1:958859-1211292
not providedUncertain significance
(Oct 2, 2017)
no assertion criteria providedVCV000687066
70.
GRCh37:
Chr1:727731-2107858
not providedUncertain significance
(Dec 28, 2017)
no assertion criteria providedVCV000685974
71.
GRCh37:
Chr1:955543-2957600
Shprintzen-Goldberg syndromeUncertain significance
(Sep 20, 2018)
criteria provided, single submitterVCV000659614
72.
GRCh37:
Chr1:1146915-1168668
GRCh38:
Chr1:1211535-1233288
SDF4, TNFRSF4, B3GALT6Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, progeroid type, 2Uncertain significance
(Aug 20, 2018)
criteria provided, single submitterVCV000656827
73.
GRCh37:
Chr1:82154-11784118
See casesPathogenic
(Oct 22, 2018)
criteria provided, single submitterVCV000638124
74.
GRCh37:
Chr1:82154-7637060
See casesPathogenic
(Sep 19, 2018)
criteria provided, single submitterVCV000638116
75.
GRCh37:
Chr1:568708-1283779
not providedLikely pathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625817
76.
GRCh37:
Chr1:568708-2567832
Chromosome 1p36 deletion syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625768
77.
GRCh37:
Chr1:568708-3662949
Chromosome 1p36 deletion syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625767
78.
GRCh37:
Chr1:823964-6828363
Chromosome 1p36 deletion syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625766
79.
GRCh37:
Chr1:1138913-1289863
not providedBenign
(Mar 13, 2013)
no assertion criteria providedVCV000612188
80.
GRCh37:
Chr1:1138913-1226512
SCNN1D, TNFRSF4, TNFRSF18, SDF4, UBE2J2, B3GALT6, C1QTNF12not providedBenign
(Mar 6, 2013)
no assertion criteria providedVCV000612187
81.
GRCh37:
Chr1:1130727-1289863
not providedBenign
(Feb 15, 2013)
no assertion criteria providedVCV000612186
82.
GRCh37:
Chr1:1130727-1179762
TNFRSF4, TNFRSF18, SDF4, B3GALT6, TTLL10, C1QTNF12not providedBenign
(Mar 13, 2013)
no assertion criteria providedVCV000612185
83.
GRCh37:
Chr1:1121794-1346905
not providedBenign
(Mar 13, 2013)
no assertion criteria providedVCV000612183
84.
GRCh37:
Chr1:1060174-1196471
TNFRSF4, TNFRSF18, SDF4, UBE2J2, B3GALT6, TTLL10, C1QTNF12, MIR200A, MIR200B, MIR429not providedBenign
(Apr 24, 2015)
no assertion criteria providedVCV000612182
85.
GRCh37:
Chr1:977062-5179574
not providedPathogenic
(May 10, 2012)
no assertion criteria providedVCV000612178
86.
GRCh37:
Chr1:727037-1366830
not providedLikely benign
(Feb 23, 2013)
no assertion criteria providedVCV000612164
87.
GRCh37:
Chr1:82154-249218992
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, UTP25, 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, EEF1AKNMT, 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, TENT5C, GON4L, GPATCH4, PALMD, FNBP1L, ST7L, SLC66A1, CASZ1, LAX1, RHBDL2, DUSP23, ADPRHL2, TRNAU1AP, ODR4, C1orf109, C1orf56, INTS11, CZIB, C1orf159, MTARC2, 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, MACO1, KLHDC8A, TRIM62, ETNK2, RAVER2, PANK4, KIRREL1, PACC1, 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, INAVA, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, INKA2, 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, COP1, GREM2, RGS18, PLA2G2F, MFSD14A, NUCKS1, SMAP2, ACBD3, SMYD3, ATPAF1, MTARC1, 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, CPLANE2, 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, OR4F16, 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, H2AW, PIGM, IGSF8, C1orf158, LEMD1, ZNF670, FBXO44, ATP5IF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, TENT5B, COX20, RBP7, TSEN15, NIBAN1, SNAP47, ACAP3, TADA1, THEM4, SH2D1B, SSX2IP, UBE2J2, OLFM3, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KDF1, CCSAP, LRRC38, ABCA4, ABL2, AADACL3, PUSL1, B3GALT6, WDR63, KLHDC9, AXDND1, ACADM, ACTA1, ACTN2, ADAR, ADORA1, ADORA3, MAB21L3, IFFO2, H3C14, SLC44A3, ATXN7L2, C1orf194, PARP1, ADSS2, AGL, AGT, AK2, AK4, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, ALDH9A1, ALPL, ALX3, AMPD1, AMPD2, AMY1A, OR2T10, OR2T4, OR2T11, ATP6V1G3, ASB17, TYW3, AMY1B, AMY1C, AMY2A, AMY2B, APCS, APOA2, ERICH3, LRRIQ3, TPRG1L, PRXL2B, MYOM3, DMBX1, FASLG, ARF1, RHOC, ARNT, ASTN1, SERPINC1, OR10J5, TMCO2, ZNF684, TCEANC2, PODN, LRRC39, ATF3, RERE, ATP1A1, ATP1A2, ATP1A4, ATP1B1, GJB4, HMGB4, RNF19B, A3GALT2, DCST2, DNAH14, ATP2B4, ATP5PB, ATP6V0B, AVPR1B, ADGRB2, BCL9, OR2B11, ZNF648, TEDDM1, C1orf122, OSCP1, C1orf216, BGLAP, BMP8B, BRDT, C1QA, C1QB, C1QC, KLHDC7A, VWA5B1, UBXN10, C1orf87, ARL8A, SYT2, C4BPA, C4BPB, C8A, C8B, CA6, CACNA1E, GOLT1A, UHMK1, FCRLB, WDR64, C1orf131, LIX1L, CACNA1S, CAPN2, CAPZA1, CAPZB, CASP9, CASQ1, SPATA17, EDARADD, KLF17, TMEM125, TSACC, IQGAP3, CASQ2, RUNX3, CD1A, CD1B, CD1C, CD1D, NAXE, ARHGEF19, MRPL55, H2BU1, DRAM2, PIFO, CD1E, CD2, CD247, CD5L, TNFRSF8, CD34, C1orf162, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, CD48, CD53, CD58, CDA, CDK11B, CDC20, OR6N1, TATDN3, S100A16, NEK7, ACTRT2, MIB2, CDC42, CDKN2C, CD52, CENPF, RCC1, CHI3L1, ITLN2, SYT6, C1orf74, CREB3L4, C1orf127, BROX, CHI3L2, CHIT1, CHML, LYST, CHRM3, CHRNB2, SAMD11, SAMD13, C1orf52, PHF13, CIART, TLCD4, CKS1B, CLCA1, CLCN6, CLCNKA, CLCNKB, CLK2, NBPF4, UBE2U, SLC35F3, HJV, ANKRD35, FAM163A, PLK3, CNN3, CNR2, COL8A2, COL9A2, CR1L, B3GALNT2, MFSD4A, PM20D1, GCSAML, SLC30A7, CCDC27, COL11A1, COL16A1, COPA, CORT, CPT2, CR1, KNCN, MOB3C, GLIS1, NBPF12, LELP1, RC3H1, CR2, CRABP2, CRP, CRYZ, CSF1, CSF3R, DCDC2B, ZNF362, DCST1, CNIH3, MANEAL, IL23R, CSRP1, CTBS, CTH, CTPS1, CTSE, CTSK, METTL11B, FAM78B, SHISA4, EXOC8, PDIK1L, BNIPL, CTSS, CYP2J2, CYP4A11, CYP4B1, DAB1, CD55, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CCDC17, DBT, GADD45A, DDOST, DHX9, DFFA, DFFB, LRRC71, SRARP, RNF187, PYHIN1, SPATA45, FAM71A, DHCR24, DIO1, DPH2, DPT, DPYD, DR1, SLC2A7, DENND2C, GBP6, FNDC7, DENND1B, TDRD5, DVL1, E2F2, ECE1, ECM1, S1PR1, EDN2, TOR1AIP2, CALML6, IFNLR1, CITED4, LEXM, SPRR4, PHC2, EIF2D, EFNA1, EFNA3, EFNA4, CELSR2, KANK4, SASS6, SDE2, CNST, FAM43B, HFM1, MEGF6, EPHA2, ELAVL4, ELF3, ELK4, ENO1, PAQR7, TTC24, CCDC185, UBL4B, AGO3, AGO4, ENSA, EPB41, EPHA8, EPHB2, EPHX1, EPRS1, LCE4A, ALG14, FAM76A, FYB2, TMEM201, TMEM61, EPS15, ESRRG, ETV3, EXTL1, EXTL2, EYA3, CYP4Z1, FAAP20, CDCP2, SLC5A9, CC2D1B, NBPF11, F3, F5, F13B, FAAH, FABP3, FCER1A, NUDT17, TXLNA, TCTEX1D1, PLD5, C1orf100, SPAG17, FCER1G, FCGR1A, FCGR1B, FCGR2A, FCGR2B, FCGR3A, SLFNL1, KRTCAP2, CRTC2, IBA57, HIPK1, SLC44A5, FCGR3B, FDPS, FGR, FH, FHL3, FOXE3, ATAD3C, AKR7L, TMEM9, FNDC5, EPHX4, TTLL10, FOXD2, FLG, FMO1, FMO2, FMO3, FMO4, AKNAD1, SLC41A1, OR2T6, LCE5A, TMCO4, MCOLN2, FMO5, FMOD, MTOR, NR5A2, FUCA1, ACKR1, COL24A1, PCSK9, SYT14, ST6GALNAC3, CATSPERE, ZNF683, IFI6, GABRD, GALE, GALNT2, GBA, GBP1, ARHGAP30, CFAP126, NEGR1, ASPM, MDS2, CYP4X1, GBP2, GBP3, GFI1, GJA4, GJA5, MAGI3, TIPRL, NPHP4, BEST4, PGBD2, TAFA3, GJA8, GJB3, GJB5, GCLM, GLUL, RIIAD1, THEM5, C1orf167, OR2L13, SLC9C2, OR14A16, GNAI3, GNAT2, GNB1, GNG4, GNG5, CYP4A22, C1orf185, NBPF15, FAM102B, SYPL2, CYB561D1, SFN, GPR3, GPR25, GPX7, GRIK3, GSTM1, ANKRD34A, RUSC1-AS1, RSPO1, EPHA10, SNHG28, SPATA46, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, ZNF326, BTBD8, RIMKLA, SLC25A34, LIN9, VN1R5, GUCA2B, GUK1, H3-3A, HCRTR1, HDAC1, HDGF, H2AC21, PPM1J, H3C15, FAM151A, S100A7A, LINGO4, CFH, CFHR1, CFHR2, ZBTB48, MR1, HLX, RXFP4, ANKRD45, C1orf174, KLHL17, TMEM240, TMEM52, HMGN2, HMGCL, HMGCS2, HNRNPU, HPCA, HSD3B1, BRINP3, ZBTB8OS, TFAP2E, ZNF678, PRSS38, CCDC190, HSD3B2, HSD11B1, HSPA6, IGSF3, HSPG2, HTR1D, ARMH1, ZFP69, RD3, AADACL4, PRAMEF5, HNRNPCL1, HTR6, ID3, IFI16, CCN1, IL6R, IL10, PRAMEF9, PRAMEF10, CCDC18, OR6F1, OR2W3, OR2T8, IL12RB2, TNFRSF9, ILF2, INPP5B, INSRR, IPP, OR2T3, MYBPHL, OR10R2, FCRL6, KCNT2, BARHL2, IRF6, ITPKB, IVL, JAK1, JUN, KCNA2, NBPF7, TCTEX1D4, OR2T29, SERINC2, SHISAL2A, FAM131C, KCNA3, KCNA10, KCNC4, KCND3, KCNH1, KCNJ9, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, KCNJ10, KCNK1, KCNK2, KCNN3, KISS1, LAD1, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LAMB3, LAMC1, LAMC2, STMN1, LBR, LCK, LCE3E, PADI6, RGSL1, BMP8A, IRF2BP2, ZBTB41, LEPR, LGALS8, LMNA, LMX1A, LORICRIN, LY9, DRAXIN, SPATA21, SVBP, TEX38, MROH7, MIGA1, TACSTD2, MAGOH, MARK1, MATN1, MCL1, CD46, PEAR1, SFT2D2, MIA3, STUM, FAM89A, AGRN, SMCP, MDM4, MEF2D, MFAP2, MGST3, MNDA, CENPS, CATSPER4, NSUN4, GPR153, ILDR2, C1QTNF12, MOV10, MPL, MPZ, MSH4, MTF1, MTHFR, HES5, SMIM1, RNF207, TMEM82, TRNP1, CD164L2, MTR, MTX1, MUC1, MUTYH, MYBPH, MYCL, TRABD2B, LDLRAD1, GBP7, C1orf146, DIPK1A, SLC6A17, MYOC, MYOG, PPP1R12B, NASP, NBL1, NCF2, NOTCH2NLA, LYSMD1, HRNR, FLG2, C1orf189, C1orf53, NDUFS2, NDUFS5, NEK2, NFIA, NFYC, NGF, TMEM81, CAPN8, COA6, C1orf229, HES3, PRAMEF12, NHLH1, NHLH2, NID1, NIT1, NOTCH2, NPPA, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, FRRS1, VHLL, NPPB, NPR1, NRAS, NRDC, YBX1, NTRK1, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, OR11L1, ROR1, DDR2, NVL, OPRD1, ORC1, OVGP1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, PAFAH2, PRDX1, PAX7, PBX1, CDK18, PDC, OR2G6, TMEM200B, PRAMEF4, PRAMEF13, SH2D5, NCMAP, PDE4B, PDZK1, PEX10, PEX14, PFDN2, PFKFB2, C1orf141, C1orf226, NBPF9, FAM177B, RNF223, LDLRAD2, PGD, PGM1, PIGC, PIGR, PIK3C2B, PIK3CD, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, APOBEC4, PI4KB, PKLR, PKP1, PLA2G2A, PLA2G4A, PLA2G5, MIR101-1, MIR137, MIR181B1, MIR194-1, MIR197, MIR199A2, PLOD1, PLXNA2, EXOSC10, PRRX1, POU2F1, POU3F1, MIR200A, MIR200B, MIR205, MIR181A1, MIR214, MIR215, PPOX, PPP1R8, PPP2R5A, PPT1, PRCC, PRELP, MIR29C, MIR30C1, MIR34A, MIR9-1, RGS21, LHX8, PRKAA2, PRKAB2, PRKACB, PKN2, PRKCZ, PROX1, PRAMEF11, PRAMEF6, HNRNPCL2, MICOS10, FAM183A, ZYG11A, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PTAFR, BCL2L15, H2BC18, ETV3L, LRRC52, RHEX, TRIM67, PTGER3, PTGFR, PTGFRN, PTGS2, QSOX1, PTPN7, MAP1LC3C, ANKRD65, PRAMEF7, OR10J3, OR2W5, OR13G1, PTPN14, PTPRC, PTPRF, PEX19, ABCD3, RAB3B, KPRP, LCE6A, RBMXL1, LURAP1, PEF1, MIR429, RAB4A, RAB13, RABGGTB, RABIF, RAP1A, RAP1GAP, FAM72C, H4C15, PRR9, C1orf147, CYB5RL, MIR205HG, RBBP4, RBBP5, REN, RFX5, RGS1, RGS2, FLVCR1-DT, KIAA0754, TMEM88B, FNDC10, PPIAL4G, PPIAL4D, RGS4, RGS7, RGS13, RGS16, RHCE, RHD, PRAMEF19, PRAMEF20, MT1HL1, LACTBL1, LYPD8, SRGAP2B, RIT1, RLF, RNASEL, RNF2, RNPEP, RNU1-4, ASCL5, ZBTB8A, NBPF6, SRGAP2C, PPIAL4A, GPR89A, SNORA73A, SNORD21, RORC, RPA2, RPE65, RPL5, PPIAL4C, H3C13, PRAMEF22, PRAMEF15, FAM72B, PRAMEF16, RPL11, RPL22, RPS6KA1, RPS8, RPS27, RSC1A1, PCP4L1, MIR551A, H2AC19, ZBTB8B, CCDC30, CDK11A, RXRG, RYR2, S100A1, SORT1, S100A2, S100A3, SLC35E2B, FAM72D, NBPF8, PPIAL4F, TEX46, FAM72A, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, OR4F29, PPIAL4E, FAM229A, MIR29B2CHG, BTNL10, C1orf68, S100A10, S100A11, S100A12, S100A13, SARS1, SCNN1D, TSTD1, FOXO6, LINC01783, NBPF10, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, SCP2, XCL1, SDHB, SDHC, SELE, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, ZBED6, SELL, SELP, SFPQ, SRSF4, SHC1, ST3GAL3, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, STIL, SKI, SLAMF1, SLC1A7, SLC2A1, CENPS-CORT, FPGT-TNNI3K, PMF1-BGLAP, MICOS10-NBL1, DNM3OS, NEGR1-IT1, SLC2A5, SLC6A9, SLC9A1, SLC16A1, SNRPE, SOAT1, ZRANB2-AS2, LINC00538, FALEC, LINC00853, LOC100996263, LOC101927434, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, LOC101927851, LOC101928034, LINC01649, PABPC4-AS1, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SRM, SRP9, RO60, 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, WNT2B, WNT9A, ZSCAN20, ZNF124, ZBTB17, SLC30A1, SLC30A2, LUZP1, PRDM2, DNALI1, LRP8, LAPTM5, BSND, CSDE1, EVI5, DAP3, NPHS2, BTG2, PTP4A2, ARID1A, H3-4, CDC7, H2AC18, H2AC20, H2BC21, H4C14, PIP5K1A, TAGLN2, BCAR3, ANXA9, SNHG3, NR0B2, RAD54L, GNPAT, DYRK3, TTF2, CDC42BPA, RGS5, PPFIA4, PIK3R3, MMP23B, KCNAB2, ITGA10, LMO4, FCN3, BLZF1, CDC14A, DEGS1, KMO, YARS1, 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, 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, SLC35E2A, 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, TUT4, SZT2, DNAJC16, UBR4, USP24, SRGAP2, SMG5, NCSTN, ATP13A2, CRB1, ITGB3BP, GPR161, TARDBP, CELA3B, SLC35A3, ABCB10, ICMT, MACF1, LRRC8B, ZNF281, SNAPIN, LPAR3, PADI4, DDAH1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000599669
88.
GRCh37:
Chr1:82154-7936272
not providedPathogenic
(Jul 13, 2015)
no assertion criteria providedVCV000599668
89.
GRCh37:
Chr1:82154-3340855
not providedPathogenic
(Mar 10, 2016)
no assertion criteria providedVCV000599667
90.
GRCh37:
Chr1:82154-1289863
not providedBenign
(Mar 5, 2012)
no assertion criteria providedVCV000599666
91.
GRCh37:
Chr1:82154-1289835
not providedBenign
(Mar 8, 2013)
no assertion criteria providedVCV000599665
92.
GRCh37:
Chr1:82154-1226512
not providedBenign
(Mar 15, 2013)
no assertion criteria providedVCV000599664
93.
GRCh37:
Chr1:47851-249228449
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, H2AW, PIGM, IGSF8, C1orf158, LEMD1, ZNF670, FBXO44, ATP5IF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, TENT5B, COX20, RBP7, TSEN15, NIBAN1, SNAP47, ACAP3, TADA1, THEM4, SH2D1B, SSX2IP, UBE2J2, OLFM3, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KDF1, CCSAP, LRRC38, AADACL3, PUSL1, B3GALT6, WDR63, KLHDC9, ABCA4, ABL2, ACADM, ACTA1, AXDND1, MAB21L3, IFFO2, H3C14, SLC44A3, ATXN7L2, ACTN2, ADAR, ADORA1, ADORA3, PARP1, ADSS2, C1orf194, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, AGL, AGT, AK2, AK4, ALDH9A1, ALPL, OR2T34, OR2T10, OR2T4, OR2T11, ATP6V1G3, ASB17, ALX3, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, TYW3, ERICH3, LRRIQ3, TPRG1L, PRXL2B, MYOM3, AMY2A, AMY2B, APCS, APOA2, FASLG, ARF1, DMBX1, OR10J5, TMCO2, ZNF684, TCEANC2, PODN, RHOC, ARNT, ASTN1, SERPINC1, ATF3, RERE, LRRC39, GJB4, HMGB4, RNF19B, A3GALT2, DCST2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5PB, DNAH14, OR2B11, ZNF648, TEDDM1, C1orf122, OSCP1, ATP6V0B, AVPR1B, ADGRB2, BCL9, BGLAP, BMP8B, C1orf216, KLHDC7A, VWA5B1, UBXN10, C1orf87, ARL8A, BRDT, C1QA, C1QB, C1QC, C4BPA, C4BPB, SYT2, GOLT1A, UHMK1, FCRLB, WDR64, C1orf131, C8A, C8B, CA6, CACNA1E, CACNA1S, CAPN2, LIX1L, SPATA17, EDARADD, KLF17, TMEM125, TSACC, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, RUNX3, IQGAP3, NAXE, ARHGEF19, MRPL55, H2BU1, DRAM2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, PIFO, C1orf162, OR10T2, OR6P1, OR10X1, OR10Z1, CD247, CD5L, TNFRSF8, CD34, CD48, CD53, OR6K6, OR6N1, TATDN3, S100A16, NEK7, ACTRT2, CD58, CDA, CDK11B, CDC20, CDC42, CDKN2C, MIB2, ITLN2, SYT6, C1orf74, CREB3L4, C1orf127, CD52, CENPF, RCC1, CHI3L1, CHI3L2, CHIT1, BROX, SAMD11, SAMD13, C1orf52, PHF13, CIART, CHML, LYST, CHRM3, CHRNB2, CKS1B, CLCA1, TLCD4, NBPF4, UBE2U, SLC35F3, HJV, ANKRD35, CLCN6, CLCNKA, CLCNKB, CLK2, PLK3, CNN3, FAM163A, B3GALNT2, MFSD4A, PM20D1, GCSAML, SLC30A7, CNR2, COL8A2, COL9A2, COL11A1, COL16A1, CCDC27, KNCN, MOB3C, GLIS1, NBPF12, LELP1, COPA, CORT, CPT2, CR1, CR1L, CR2, RC3H1, DCDC2B, ZNF362, DCST1, CNIH3, MANEAL, CRABP2, CRP, CRYZ, CSF1, CSF3R, CSRP1, IL23R, METTL11B, FAM78B, SHISA4, EXOC8, PDIK1L, CTBS, CTH, CTPS1, CTSE, CTSK, CTSS, BNIPL, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CYP2J2, CYP4A11, CYP4B1, DAB1, CD55, DBT, CCDC17, LRRC71, SRARP, RNF187, PYHIN1, SPATA45, GADD45A, DDOST, DHX9, DFFA, DFFB, DHCR24, FAM71A, SLC2A7, DENND2C, GBP6, FNDC7, DENND1B, DIO1, DPH2, DPT, DPYD, DR1, DVL1, TDRD5, TOR1AIP2, CALML6, IFNLR1, CITED4, LEXM, E2F2, ECE1, ECM1, S1PR1, EDN2, PHC2, SPRR4, KANK4, SASS6, SDE2, CNST, FAM43B, EIF2D, EFNA1, EFNA3, EFNA4, CELSR2, MEGF6, HFM1, PAQR7, TTC24, CCDC185, UBL4B, AGO3, EPHA2, ELAVL4, ELF3, ELK4, ENO1, ENSA, AGO4, LCE4A, ALG14, FAM76A, FYB2, TMEM201, EPB41, EPHA8, EPHB2, EPHX1, EPRS1, EPS15, TMEM61, CYP4Z1, FAAP20, CDCP2, SLC5A9, CC2D1B, ESRRG, ETV3, EXTL1, EXTL2, EYA3, F3, NBPF11, NUDT17, TXLNA, TCTEX1D1, PLD5, C1orf100, F5, F13B, FAAH, FABP3, FCER1A, FCER1G, SPAG17, SLFNL1, KRTCAP2, CRTC2, IBA57, HIPK1, FCGR1A, FCGR1B, FCGR2A, FCGR2B, FCGR3A, FCGR3B, SLC44A5, ATAD3C, AKR7L, TMEM9, FNDC5, EPHX4, FDPS, FGR, FH, FHL3, FOXE3, FOXD2, TTLL10, AKNAD1, SLC41A1, OR2T6, LCE5A, TMCO4, FLG, FMO1, FMO2, FMO3, FMO4, FMO5, MCOLN2, COL24A1, PCSK9, SYT14, ST6GALNAC3, CATSPERE, FMOD, MTOR, NR5A2, FUCA1, ACKR1, IFI6, ZNF683, ARHGAP30, CFAP126, NEGR1, ASPM, MDS2, GABRD, GALE, GALNT2, GBA, GBP1, GBP2, CYP4X1, MAGI3, TIPRL, NPHP4, BEST4, PGBD2, GBP3, GFI1, GJA4, GJA5, GJA8, TAFA3, RIIAD1, THEM5, C1orf167, OR2L13, SLC9C2, GJB3, GJB5, GCLM, GLUL, GNAI3, GNAT2, OR14A16, CYP4A22, C1orf185, NBPF15, FAM102B, SYPL2, GNB1, GNG4, GNG5, SFN, GPR3, GPR25, CYB561D1, ANKRD34A, RUSC1-AS1, RSPO1, EPHA10, SNHG28, GPX7, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, SPATA46, ZNF326, BTBD8, RIMKLA, SLC25A34, LIN9, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H3-3A, VN1R5, H2AC21, PPM1J, H3C15, FAM151A, S100A7A, HCRTR1, HDAC1, HDGF, CFH, CFHR1, CFHR2, LINGO4, RXFP4, ANKRD45, C1orf174, KLHL17, TMEM240, ZBTB48, MR1, HLX, HMGN2, HMGCL, HMGCS2, TMEM52, BRINP3, ZBTB8OS, TFAP2E, ZNF678, PRSS38, HNRNPU, HPCA, HSD3B1, HSD3B2, HSD11B1, HSPA6, CCDC190, ARMH1, ZFP69, RD3, AADACL4, PRAMEF5, IGSF3, HSPG2, HTR1D, HTR6, ID3, IFI16, HNRNPCL1, PRAMEF9, PRAMEF10, CCDC18, OR6F1, OR2W3, CCN1, IL6R, IL10, IL12RB2, TNFRSF9, ILF2, OR2T8, OR2T3, MYBPHL, OR10R2, FCRL6, KCNT2, INPP5B, INSRR, IPP, IRF6, ITPKB, IVL, BARHL2, NBPF7, TCTEX1D4, OR2T29, SERINC2, SHISAL2A, JAK1, JUN, KCNA2, KCNA3, KCNA10, KCNC4, FAM131C, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, KCND3, KCNH1, KCNJ9, KCNJ10, KCNK1, KCNK2, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, KCNN3, KISS1, LAD1, LAMB3, LAMC1, LAMC2, LCE3C, LCE3E, PADI6, RGSL1, BMP8A, IRF2BP2, STMN1, LBR, LCK, LEPR, LGALS8, LMNA, ZBTB41, DRAXIN, SPATA21, SVBP, TEX38, MROH7, LMX1A, LORICRIN, LY9, TACSTD2, MAGOH, MARK1, MIGA1, PEAR1, SFT2D2, MIA3, STUM, FAM89A, MATN1, MCL1, CD46, SMCP, MDM4, MEF2D, AGRN, CENPS, CATSPER4, NSUN4, GPR153, ILDR2, MFAP2, MGST3, MNDA, MOV10, MPL, MPZ, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, TRNP1, MSH4, MTF1, MTHFR, MTR, MTX1, MUC1, CD164L2, TRABD2B, LDLRAD1, GBP7, C1orf146, DIPK1A, MUTYH, MYBPH, MYCL, MYOC, MYOG, PPP1R12B, SLC6A17, NOTCH2NLA, LYSMD1, HRNR, FLG2, C1orf189, NASP, NBL1, NCF2, NDUFS2, NDUFS5, NEK2, C1orf53, TMEM81, CAPN8, COA6, C1orf229, HES3, NFIA, NFYC, NGF, NHLH1, NHLH2, NID1, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, FRRS1, NIT1, NOTCH2, NPPA, NPPB, NPR1, NRAS, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, NRDC, YBX1, NTRK1, ROR1, DDR2, NVL, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OPRD1, ORC1, OVGP1, PAFAH2, PRDX1, PAX7, OR2M7, OR2G6, TMEM200B, PRAMEF4, PRAMEF13, SH2D5, PBX1, CDK18, PDC, PDE4B, PDZK1, PEX10, NCMAP, C1orf141, C1orf226, NBPF9, FAM177B, RNF223, PEX14, PFDN2, PFKFB2, PGD, PGM1, PIGC, LDLRAD2, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, PIGR, PIK3C2B, PIK3CD, PI4KB, PKLR, PKP1, APOBEC4, MIR101-1, MIR137, MIR181B1, MIR194-1, MIR197, PLA2G2A, PLA2G4A, PLA2G5, PLOD1, PLXNA2, EXOSC10, MIR199A2, MIR200A, MIR200B, MIR205, MIR181A1, MIR214, PRRX1, POU2F1, POU3F1, PPOX, PPP1R8, PPP2R5A, MIR215, MIR29C, MIR30C1, MIR34A, MIR9-1, RGS21, PPT1, PRCC, PRELP, PRKAA2, PRKAB2, PRKACB, LHX8, PRAMEF11, PRAMEF6, HNRNPCL2, MICOS10, FAM183A, PKN2, PRKCZ, PROX1, PSEN2, PSMA5, PSMB2, ZYG11A, BCL2L15, H2BC18, ETV3L, LRRC52, RHEX, PSMB4, PSMD4, PTAFR, PTGER3, PTGFR, PTGFRN, TRIM67, MAP1LC3C, ANKRD65, PRAMEF7, OR10J3, OR2W5, PTGS2, QSOX1, PTPN7, PTPN14, PTPRC, PTPRF, OR13G1, KPRP, LCE6A, RBMXL1, LURAP1, PEF1, PEX19, ABCD3, RAB3B, RAB4A, RAB13, RABGGTB, MIR429, FAM72C, H4C15, PRR9, C1orf147, CYB5RL, RABIF, RAP1A, RAP1GAP, RBBP4, RBBP5, REN, MIR205HG, FLVCR1-DT, KIAA0754, TMEM88B, FNDC10, PPIAL4G, RFX5, RGS1, RGS2, RGS4, RGS7, RGS13, PPIAL4D, PRAMEF19, PRAMEF20, MT1HL1, LACTBL1, LYPD8, RGS16, RHCE, RHD, RIT1, RLF, RNASEL, SRGAP2B, ASCL5, ZBTB8A, NBPF6, SRGAP2C, PPIAL4A, RNF2, RNPEP, RNU1-4, SNORA73A, SNORD21, RORC, GPR89A, PPIAL4C, H3C13, PRAMEF22, PRAMEF15, FAM72B, RPA2, RPE65, RPL5, RPL11, RPL22, RPS6KA1, PRAMEF16, PCP4L1, MIR551A, H2AC19, ZBTB8B, CCDC30, CDK11A, RPS8, RPS27, RSC1A1, RXRG, RYR2, S100A1, SLC35E2B, FAM72D, NBPF8, PPIAL4F, TEX46, FAM72A, SORT1, S100A2, S100A3, S100A4, S100A5, S100A6, OR4F29, PPIAL4E, FAM229A, MIR29B2CHG, BTNL10, C1orf68, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, TSTD1, FOXO6, LINC01783, NBPF10, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, S100A13, SARS1, SCNN1D, SCP2, XCL1, SDHB, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, ZBED6, SDHC, SELE, SELL, SELP, SFPQ, SRSF4, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, SHC1, ST3GAL3, STIL, SKI, SLAMF1, SLC1A7, CENPS-CORT, FPGT-TNNI3K, PMF1-BGLAP, MICOS10-NBL1, DNM3OS, NEGR1-IT1, SLC2A1, SLC2A5, SLC6A9, SLC9A1, SLC16A1, SNRPE, ZRANB2-AS2, LINC00538, FALEC, LINC00853, LOC100996263, LOC101927434, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, LOC101927851, LOC101928034, LINC01649, PABPC4-AS1, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SRM, SRP9, RO60, 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, WNT2B, WNT9A, ZSCAN20, ZNF124, ZBTB17, SLC30A1, SLC30A2, LUZP1, PRDM2, DNALI1, LRP8, LAPTM5, BSND, CSDE1, EVI5, DAP3, NPHS2, BTG2, PTP4A2, ARID1A, H3-4, CDC7, H2AC18, H2AC20, H2BC21, H4C14, PIP5K1A, TAGLN2, BCAR3, ANXA9, SNHG3, NR0B2, RAD54L, GNPAT, DYRK3, TTF2, CDC42BPA, RGS5, PPFIA4, PIK3R3, MMP23B, KCNAB2, ITGA10, LMO4, FCN3, BLZF1, CDC14A, DEGS1, KMO, YARS1, 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, 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, SLC35E2A, 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,