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Items: 78

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:219135154
GRCh38:
Chr2:218270431
PNKDParoxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr2:219135180
GRCh38:
Chr2:218270457
PNKDParoxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr2:219135194
GRCh38:
Chr2:218270471
PNKDParoxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr2:219135260
GRCh38:
Chr2:218270537
PNKDParoxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr2:219135278
GRCh38:
Chr2:218270555
PNKDParoxysmal choreoathetosisPathogenic
(Apr 1, 2005)
no assertion criteria provided
6.
GRCh37:
Chr2:219135284
GRCh38:
Chr2:218270561
PNKDParoxysmal choreoathetosis, Paroxysmal dystonia, Paroxysmal dyskinesia,
Episodic hemiplegia
Pathogenic
(Jan 12, 2016)
no assertion criteria provided
7.
GRCh37:
Chr2:219135295
GRCh38:
Chr2:218270572
PNKDParoxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:219135323
GRCh38:
Chr2:218270600
PNKDParoxysmal choreoathetosisUncertain significance
(Jan 9, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr2:219136133
GRCh38:
Chr2:218271410
PNKDParoxysmal choreoathetosisPathogenic
(Mar 15, 2009)
no assertion criteria provided
10.
GRCh37:
Chr2:219136201
GRCh38:
Chr2:218271478
PNKDParoxysmal choreoathetosisLikely benign
(Aug 24, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:219146737
GRCh38:
Chr2:218282014
PNKD, TMBIM1not providedLikely benign
(Jun 2, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr2:219204475
GRCh38:
Chr2:218339752
PNKD, CATIP-AS2not specifiedBenigncriteria provided, single submitter
13.
GRCh37:
Chr2:219204497
GRCh38:
Chr2:218339774
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jan 16, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr2:219204523
GRCh38:
Chr2:218339800
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr2:219204534
GRCh38:
Chr2:218339811
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr2:219204562
GRCh38:
Chr2:218339839
PNKD, CATIP-AS2not providedLikely pathogenic
(May 9, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr2:219204568
GRCh38:
Chr2:218339845
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:219204571
GRCh38:
Chr2:218339848
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr2:219204592
GRCh38:
Chr2:218339869
PNKD, CATIP-AS2not providedUncertain significance
(Sep 22, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr2:219204600
GRCh38:
Chr2:218339877
PNKD, CATIP-AS2Paroxysmal choreoathetosisConflicting interpretations of pathogenicity
(Aug 9, 2016)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr2:219204633
GRCh38:
Chr2:218339910
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr2:219204726
GRCh38:
Chr2:218340003
PNKD, CATIP-AS2not specifiedLikely benigncriteria provided, single submitter
23.
GRCh37:
Chr2:219204728
GRCh38:
Chr2:218340005
PNKD, CATIP-AS2not specifiedBenigncriteria provided, single submitter
24.
GRCh37:
Chr2:219204854
GRCh38:
Chr2:218340131
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:219205440
GRCh38:
Chr2:218340717
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr2:219205448
GRCh38:
Chr2:218340725
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr2:219205461
GRCh38:
Chr2:218340738
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr2:219205471
GRCh38:
Chr2:218340748
PNKD, CATIP-AS2Paroxysmal choreoathetosis, not specifiedBenign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:219205484
GRCh38:
Chr2:218340761
PNKD, CATIP-AS2not specifiedUncertain significance
(Jun 9, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr2:219205522
GRCh38:
Chr2:218340799
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr2:219206292
GRCh38:
Chr2:218341569
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr2:219206329
GRCh38:
Chr2:218341606
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr2:219206714
GRCh38:
Chr2:218341991
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr2:219206738
GRCh38:
Chr2:218342015
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:219206739
GRCh38:
Chr2:218342016
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr2:219206879
GRCh38:
Chr2:218342156
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr2:219206879
GRCh38:
Chr2:218342156
PNKD, CATIP-AS2Paroxysmal choreoathetosis, not specifiedLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:219208226
GRCh38:
Chr2:218343503
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr2:219209224
GRCh38:
Chr2:218344501
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Aug 7, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr2:219209248
GRCh38:
Chr2:218344525
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Dec 13, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:219209268
GRCh38:
Chr2:218344545
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr2:219209282
GRCh38:
Chr2:218344559
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jan 10, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr2:219209500
GRCh38:
Chr2:218344777
PNKD, CATIP-AS2not specifiedLikely benigncriteria provided, single submitter
44.
GRCh37:
Chr2:219209556
GRCh38:
Chr2:218344833
PNKD, CATIP-AS2not specifiedUncertain significance
(May 29, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr2:219209686-219209691
GRCh38:
Chr2:218344963-218344968
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr2:219209737
GRCh38:
Chr2:218345014
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr2:219209742
GRCh38:
Chr2:218345019
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr2:219209796
GRCh38:
Chr2:218345073
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr2:219209885
GRCh38:
Chr2:218345162
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr2:219209910
GRCh38:
Chr2:218345187
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr2:219210015
GRCh38:
Chr2:218345292
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr2:219210155
GRCh38:
Chr2:218345432
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr2:219210211
GRCh38:
Chr2:218345488
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr2:219210311
GRCh38:
Chr2:218345588
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr2:219210384-219210385
GRCh38:
Chr2:218345661-218345662
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr2:219210530
GRCh38:
Chr2:218345807
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr2:219210542
GRCh38:
Chr2:218345819
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr2:219210606
GRCh38:
Chr2:218345883
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr2:219210686
GRCh38:
Chr2:218345963
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr2:219210696
GRCh38:
Chr2:218345973
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr2:219210781
GRCh38:
Chr2:218346058
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr2:219210822
GRCh38:
Chr2:218346099
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr2:219210843
GRCh38:
Chr2:218346120
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr2:219210845
GRCh38:
Chr2:218346122
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr2:219210897
GRCh38:
Chr2:218346174
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr2:219211180
GRCh38:
Chr2:218346457
PNKD, CATIP-AS2Paroxysmal choreoathetosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr2:219211427
GRCh38:
Chr2:218346704
PNKD, CATIP-AS2Paroxysmal choreoathetosisBenign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr2:219211525
GRCh38:
Chr2:218346802
PNKD, CATIP-AS2Paroxysmal choreoathetosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr2:12771-242783384
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPPL2, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5G3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, SSFA2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCH4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCH7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, C2orf54, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, C2orf40, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, ALS2CR12, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, PQLC3, TMEM182, AHSA2, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPT10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, FAM84A, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, PLGLA, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, C2orf70, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, C2orf71, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, C2orf82, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, POTEKP, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, HCG2040054, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
70.
GRCh37:
Chr2:12771-242783384
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPPL2, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5G3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, SSFA2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCH4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCH7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, C2orf54, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, C2orf40, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, ALS2CR12, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, PQLC3, TMEM182, AHSA2, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPT10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, FAM84A, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, PLGLA, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, C2orf70, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, C2orf71, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, C2orf82, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, POTEKP, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, HCG2040054, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
71.
GRCh37:
Chr2:213518431-242783384
AAMP, AGXT, ALPI, ALPP, ALPPL2, ATIC, KIF1A, BARD1, BCS1L, BOK, CHRND, CHRNG, COL4A3, COL4A4, COL6A3, CRYBA2, CYP27A1, DES, DTYMK, EPHA4, ACSL3, FN1, GBX2, GPC1, GPR35, HDLBP, AGFG1, DNAJB2, HTR2B, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, IRS1, KCNJ13, NCL, NDUFA10, SEPT2, NEU2, NPPC, PAX3, PDE6D, SERPINE2, PPP1R7, PSMD1, PTMA, PTPRN, SNORD20, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, TNP1, TNS1, TUBA4A, VIL1, WNT6, XRCC5, ZNF142, SCG2, CUL3, DGKD, STK16, PER2, CDK5R2, CNOT9, LRRFIP1, GPR55, TRIP12, ECEL1, EIF4E2, TTLL4, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, RAMP1, SPEG, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, PASK, ATG4B, OBSL1, DNPEP, SH3BP4, KCNE4, NGEF, SNORD82, PNKD, SNED1, GIGYF2, TRAF3IP1, ABCA12, CNPPD1, STK36, GMPPA, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, ASB1, CAB39, PRKAG3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, PID1, ATG16L1, ANKZF1, USP40, HJURP, HES6, ASIC4, DOCK10, MREG, PECR, C2orf83, MFF, ACKR3, RNPEPL1, MARCH4, WDFY1, NYAP2, USP37, CTDSP1, GAL3ST2, TMBIM1, RAB17, RNF25, COPS7B, MRPL44, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, SPAG16, CHPF, IQCA1, NHEJ1, FAM124B, TM4SF20, C2orf54, ARMC9, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, PLCD4, TMEM169, DNER, B3GNT7, SP140L, STK11IP, MOGAT1, AGAP1, TWIST2, DIS3L2, NEU4, AP1S3, SGPP2, SPATA3, TMEM198, ZFAND2B, FBXO36, MTERF4, UBE2F, OTOS, COPS9, OR6B3, ERFE, CCDC140, SLC23A3, GPBAR1, SLC16A14, DAW1, TEX44, TIGD1, CFAP65, C2orf72, RUFY4, DUSP28, MROH2A, ESPNL, CATIP, RBM44, AQP12A, KLHL30, RESP18, C2orf82, OR6B2, ASB18, VWC2L, MIR149, MIR26B, DNAJB3, MIR375, PRR21, PRSS56, AQP12B, D2HGDH, DIRC3, LOC100128563
See casesPathogenic
(Oct 22, 2014)
no assertion criteria provided
72.
GRCh37:
Chr2:218966482-243059659
GRCh38:
Chr2:218101759-242126245
AAMP, AGXT, ALPI, ALPP, ALPPL2, KIF1A, BCS1L, BOK, CHRND, CHRNG, COL4A3, COL4A4, COL6A3, CRYBA2, CYP27A1, DES, DTYMK, EPHA4, ACSL3, GBX2, GPC1, GPR35, HDLBP, AGFG1, DNAJB2, HTR2B, SP110, IHH, CXCR1, CXCR2, INHA, INPP5D, IRS1, KCNJ13, NCL, NDUFA10, SEPT2, NEU2, NPPC, PAX3, PDCD1, PDE6D, SERPINE2, PPP1R7, PSMD1, PTMA, PTPRN, SNORD20, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, TUBA4A, UGT1A, VIL1, WNT6, ZNF142, SCG2, CUL3, DGKD, STK16, PER2, CDK5R2, CNOT9, LRRFIP1, GPR55, TRIP12, ECEL1, EIF4E2, TTLL4, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, RAMP1, SPEG, NMUR1, STK25, COPS8, CAPN10, SP140, PASK, ATG4B, OBSL1, DNPEP, SH3BP4, KCNE4, NGEF, SNORD82, PNKD, SNED1, GIGYF2, TRAF3IP1, CNPPD1, STK36, GMPPA, ANO7, PRLH, THAP4, ANKMY1, SCLY, ASB1, CAB39, PRKAG3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, PID1, ATG16L1, ANKZF1, USP40, HJURP, HES6, ASIC4, DOCK10, C2orf83, MFF, ACKR3, RNPEPL1, WDFY1, NYAP2, USP37, CTDSP1, GAL3ST2, TMBIM1, RAB17, RNF25, COPS7B, MRPL44, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, CHPF, IQCA1, NHEJ1, FAM124B, TM4SF20, C2orf54, TUBA4B, ARMC9, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, PLCD4, MGC16025, DNER, B3GNT7, SP140L, LOC93463, STK11IP, MOGAT1, AGAP1, TWIST2, DIS3L2, NEU4, AP1S3, SGPP2, SPATA3, TMEM198, ZFAND2B, FBXO36, MTERF4, UBE2F, OTOS, COPS9, OR6B3, LOC150935, LINC01107, LOC151174, ERFE, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, TIGD1, LOC200772, CFAP65, C2orf72, RTP5, LOC285095, LOC285097, LOC285191, DUSP28, MROH2A, ESPNL, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, RESP18, C2orf82, OR6B2, ASB18, LINC01940, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, PRR21, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, MIR562, D2HGDH, LINC01881, CROCC2, LOC729968, LOC100128563, LOC100129175, PP14571, TRY-ATA1-1, MIR1471, MIR1244-1, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3132, MIR4269, AGAP1-IT1, UBE2F-SCLY, MIR4439, MIR4777, MIR2467, MIR4440, MIR4786, MIR4441, MIR5001, MIR5702, MIR5703, LOC100996693, CAPN10-AS1, LINC01237, LOC101928111, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6811, MIR6810, LINC01238, MIR9500, CATIP-AS2, LINC01803, LINC01891, LINC01937, LINC01880, LINC01173
See casesPathogenic
(Feb 4, 2013)
no assertion criteria provided
73.
GRCh37:
Chr2:190300875-242783384
GRCh38:
Chr2:189436149-241841232
AAMP, ACADL, AGXT, ALPI, ALPP, ALPPL2, AOX1, ATIC, KIF1A, BARD1, BCS1L, BMPR2, BOK, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL4A3, COL4A4, COL6A3, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, DTYMK, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, MSTN, GLS, GPC1, GPR1, GPR35, HDLBP, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP1, INPP5D, IRS1, KCNJ13, MAP2, MYO1B, MYL1, NAB1, NCL, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NPPC, ORC2, PAX3, PDE6D, SERPINE2, PLCL1, PMS1, PPP1R7, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, STAT1, STAT4, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CAVIN2, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, PER2, CDK5R2, CNOT9, LRRFIP1, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, ABI2, RAMP1, SPEG, LANCL1, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, FASTKD2, PASK, ATG4B, SATB2, OBSL1, SF3B1, DNPEP, TMEFF2, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SNED1, SPATS2L, GIGYF2, TRAF3IP1, ABCA12, HIBCH, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SLC40A1, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, NOP58, ASB1, CAB39, PRKAG3, PPIL3, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, MFSD6, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, HES6, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, ACKR3, RNPEPL1, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, PCGEM1, GAL3ST2, TMBIM1, OSGEPL1, RAB17, RNF25, COPS7B, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, C2orf54, PGAP1, TUBA4B, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, WDR75, RHBDD1, C2orf88, ING5, PLCD4, MGC16025, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, LOC93463, ORMDL1, STK11IP, MOGAT1, AGAP1, TWIST2, PARD3B, TYW5, DIS3L2, NEU4, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, SPATA3, TMEM198, ZFAND2B, CPO, MDH1B, FBXO36, MTERF4, UBE2F, SATB2-AS1, OTOS, COPS9, OR6B3, ANKAR, FAM117B, LOC150935, LINC01963, KANSL1L, LINC01107, LOC151174, ERFE, METTL21A, CCNYL1, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, PIKFYVE, FAM237A, TIGD1, LOC200772, C2orf69, CFAP65, C2orf72, CCDC150, FAM126B, UNC80, RUFY4, LOC285191, DUSP28, MROH2A, ESPNL, FTCDNL1, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, PLEKHM3, C2orf80, RESP18, C2orf82, OR6B2, DYTN, C2orf66, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, SNORA41, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, SNORD11, SNORD70, MIR562, D2HGDH, CROCC2, LOC729224, DIRC3, LOC729968, SNORD11B, LOC100128563, LOC100129175, PP14571, LOC100130451, LOC100130452, NEMP2, TRY-ATA1-1, MIR1471, MIR1302-4, MIR1244-1, MIR548F2, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR4269, AGAP1-IT1, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR2467, MIR4775, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, KIAA2012, MIR5001, MIR5702, MIR5703, RNU6-31P, VWC2L-IT1, LOC100996693, OSGEPL1-AS1, GPR1-AS, CAPN10-AS1, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR7845, MIR6810, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LOC105373805, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LOC105747689, LINC01173, SNORA105B
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
74.
GRCh37:
Chr2:181378520-225167565
GRCh38:
Chr2:180513793-224302848
AAMP, ACADL, AOX1, ATIC, BARD1, BCS1L, BMPR2, CASP8, CASP10, CD28, CLK1, COL3A1, COL5A2, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, FRZB, MSTN, GLS, GPR1, DNAJB2, HSPD1, HSPE1, IDH1, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP1, ITGA4, ITGAV, MAP2, MYO1B, MYL1, NAB1, NDUFB3, NDUFS1, NEUROD1, ORC2, PAX3, PDE1A, SERPINE2, PLCL1, PMS1, PTH2R, PTPRN, RPE, RPL37A, SLC4A3, SLC11A1, SSFA2, STAT1, STAT4, TFPI, TNP1, TNS1, TUBA4A, SUMO1, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CAVIN2, STK16, KLF7, ADAM23, NRP2, CFLAR, CDK5R2, CNOT9, STK17B, GTF3C3, TTLL4, BZW1, FARSB, ABCB6, ARPC2, ABI2, CALCRL, SPEG, LANCL1, UBE2E3, NCKAP1, IKZF2, FASTKD2, SATB2, OBSL1, SF3B1, DNPEP, TMEFF2, KCNE4, MOB4, PNKD, SPATS2L, ABCA12, HIBCH, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SLC40A1, SMARCAL1, GULP1, NOP58, PRKAG3, PPIL3, DNAJC10, ASNSD1, FEV, MFSD6, INO80D, ANKZF1, STRADB, ASIC4, MREG, WDR12, PECR, ZC3H15, DNAH7, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, PCGEM1, TMBIM1, OSGEPL1, RNF25, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, ATG9A, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, CARF, NHEJ1, PGAP1, TUBA4B, COQ10B, WNT10A, WDR75, C2orf88, PLCD4, ANKRD44, ZNF804A, TMEM169, MARS2, ORMDL1, STK11IP, DIRC1, MOGAT1, PARD3B, NUP35, TYW5, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, TMEM198, ZFAND2B, CPO, MDH1B, DUSP19, SATB2-AS1, ANKAR, FAM117B, LINC01963, KANSL1L, ZSWIM2, METTL21A, CCNYL1, PPP1R1C, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, FAM171B, PIKFYVE, FAM237A, C2orf69, CFAP65, CCDC150, FAM126B, UNC80, RUFY4, FTCDNL1, CERKL, CATIP, PLEKHM3, C2orf80, RESP18, DYTN, FSIP2, C2orf66, VWC2L, MIR153-1, MIR26B, LOC440934, MIR375, SNORA41, LINC00607, SNORD11, SNORD70, MIR561, LOC729224, DIRC3, SNORD11B, LOC100129175, LOC100130451, LOC100130452, NEMP2, TRY-ATA1-1, MIR1302-4, MIR1245A, MIR548F2, MIR3129, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR3606, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, MIR4437, MIR4776-1, MIR548AE1, MIR1245B, MIR4775, MIR4438, MIR4776-2, KIAA2012, RNU6-31P, VWC2L-IT1, LOC100996693, OSGEPL1-AS1, GPR1-AS, SCHLAP1, LINC01934, LOC101927196, LINC01473, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LINC01280, LINC01921, CATIP-AS1, LINC01494, MIR6513, MIR6809, MIR7845, MIR6810, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LINC01090, LOC105373782, LOC105373805, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LOC105747689, SNORA105B, FSIP2-AS1
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
75.
GRCh37:
Chr2:211444400-243059659
GRCh38:
Chr2:210579676-242126245
AAMP, AGXT, ALPI, ALPP, ALPPL2, ATIC, KIF1A, BARD1, BCS1L, BOK, CHRND, CHRNG, COL4A3, COL4A4, COL6A3, CPS1, CRYBA2, CYP27A1, DES, DTYMK, EPHA4, ERBB4, ACSL3, FN1, GBX2, GPC1, GPR35, HDLBP, AGFG1, DNAJB2, HTR2B, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP5D, IRS1, KCNJ13, NCL, NDUFA10, SEPT2, NEU2, NPPC, PAX3, PDCD1, PDE6D, SERPINE2, PPP1R7, PSMD1, PTMA, PTPRN, SNORD20, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, TNP1, TNS1, TUBA4A, UGT1A, VIL1, WNT6, XRCC5, ZNF142, SCG2, CUL3, DGKD, STK16, PER2, CDK5R2, CNOT9, LRRFIP1, GPR55, TRIP12, ECEL1, EIF4E2, TTLL4, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, RAMP1, SPEG, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, PASK, ATG4B, OBSL1, DNPEP, SH3BP4, KCNE4, NGEF, SNORD82, PNKD, SNED1, GIGYF2, TRAF3IP1, ABCA12, CNPPD1, STK36, CPS1-IT1, GMPPA, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, ASB1, CAB39, PRKAG3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, PID1, ATG16L1, ANKZF1, USP40, HJURP, HES6, ASIC4, DOCK10, MREG, PECR, C2orf83, MFF, ACKR3, RNPEPL1, MARCH4, WDFY1, NYAP2, USP37, CTDSP1, GAL3ST2, TMBIM1, RAB17, RNF25, COPS7B, MRPL44, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, SPAG16, CHPF, IQCA1, NHEJ1, FAM124B, TM4SF20, C2orf54, TUBA4B, ARMC9, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, PLCD4, MGC16025, TMEM169, DNER, B3GNT7, SP140L, LOC93463, STK11IP, MOGAT1, AGAP1, TWIST2, DIS3L2, NEU4, AP1S3, SGPP2, SPATA3, TMEM198, ZFAND2B, FBXO36, MTERF4, UBE2F, OTOS, COPS9, OR6B3, LOC150935, LINC01963, LINC01107, LOC151174, ERFE, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, TIGD1, LOC200772, CFAP65, C2orf72, RTP5, LOC285095, LOC285097, RUFY4, LOC285191, DUSP28, MROH2A, ESPNL, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, RESP18, C2orf82, OR6B2, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, MIR562, D2HGDH, LINC01881, CROCC2, DIRC3, LOC729968, LOC100128563, LOC100129175, PP14571, LOC100130451, TRY-ATA1-1, MIR1471, MIR1244-1, MIR548F2, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3132, MIR4269, AGAP1-IT1, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR2467, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, MIR5001, MIR5702, MIR5703, VWC2L-IT1, LOC100996693, CAPN10-AS1, LINC01237, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR6810, LINC01238, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LINC01880, LINC01173
See casesPathogenic
(Aug 5, 2011)
no assertion criteria provided
76.
GRCh37:
Chr2:191175462-242834921
GRCh38:
Chr2:190310736-241892770
AAMP, ACADL, AGXT, ALPI, ALPP, ALPPL2, AOX1, ATIC, KIF1A, BARD1, BCS1L, BMPR2, BOK, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL4A3, COL4A4, COL6A3, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, DTYMK, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, GLS, GPC1, GPR1, GPR35, HDLBP, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP1, INPP5D, IRS1, KCNJ13, MAP2, MYO1B, MYL1, NAB1, NCL, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NPPC, ORC2, PAX3, PDCD1, PDE6D, SERPINE2, PLCL1, PPP1R7, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, STAT1, STAT4, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CAVIN2, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, PER2, CDK5R2, CNOT9, LRRFIP1, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, ABI2, RAMP1, SPEG, LANCL1, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, FASTKD2, PASK, ATG4B, SATB2, OBSL1, SF3B1, DNPEP, TMEFF2, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SNED1, SPATS2L, GIGYF2, TRAF3IP1, ABCA12, HIBCH, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, NOP58, ASB1, CAB39, PRKAG3, PPIL3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, MFSD6, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, HES6, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, ACKR3, RNPEPL1, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, PCGEM1, GAL3ST2, TMBIM1, RAB17, RNF25, COPS7B, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, C2orf54, PGAP1, TUBA4B, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, PLCD4, MGC16025, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, LOC93463, STK11IP, MOGAT1, AGAP1, TWIST2, PARD3B, TYW5, DIS3L2, NEU4, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, SPATA3, TMEM198, ZFAND2B, CPO, MDH1B, FBXO36, MTERF4, UBE2F, SATB2-AS1, OTOS, COPS9, OR6B3, FAM117B, LOC150935, LINC01963, KANSL1L, LINC01107, LOC151174, ERFE, METTL21A, CCNYL1, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, PIKFYVE, FAM237A, TIGD1, LOC200772, C2orf69, CFAP65, C2orf72, CCDC150, RTP5, FAM126B, UNC80, RUFY4, LOC285191, DUSP28, MROH2A, ESPNL, FTCDNL1, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, DYTN, C2orf66, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, SNORA41, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, SNORD11, SNORD70, MIR562, D2HGDH, CROCC2, LOC729224, DIRC3, LOC729968, SNORD11B, LOC100128563, LOC100129175, PP14571, LOC100130451, LOC100130452, NEMP2, TRY-ATA1-1, MIR1471, MIR1302-4, MIR1244-1, MIR548F2, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR4269, AGAP1-IT1, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR2467, MIR4775, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, KIAA2012, MIR5001, MIR5702, MIR5703, RNU6-31P, VWC2L-IT1, LOC100996693, GPR1-AS, CAPN10-AS1, LINC01237, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR7845, MIR6810, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LOC105373805, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LOC105747689, LINC01173, SNORA105B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
77.
GRCh37:
Chr2:189682921-243007359
GRCh38:
Chr2:188818195-242065208
AAMP, ACADL, AGXT, ALPI, ALPP, ALPPL2, AOX1, ATIC, KIF1A, BARD1, BCS1L, BMPR2, BOK, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, DTYMK, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, MSTN, GLS, GPC1, GPR1, GPR35, HDLBP, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP1, INPP5D, IRS1, KCNJ13, MAP2, MYO1B, MYL1, NAB1, NCL, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NPPC, ORC2, PAX3, PDCD1, PDE6D, SERPINE2, PLCL1, PMS1, PPP1R7, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, STAT1, STAT4, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CAVIN2, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, PER2, CDK5R2, CNOT9, LRRFIP1, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, ABI2, RAMP1, SPEG, LANCL1, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, FASTKD2, PASK, ATG4B, SATB2, OBSL1, SF3B1, DNPEP, TMEFF2, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SNED1, SPATS2L, GIGYF2, TRAF3IP1, ABCA12, HIBCH, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SLC40A1, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, NOP58, ASB1, CAB39, PRKAG3, PPIL3, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, MFSD6, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, HES6, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, ACKR3, RNPEPL1, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, PCGEM1, GAL3ST2, TMBIM1, OSGEPL1, RAB17, RNF25, COPS7B, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, C2orf54, PGAP1, TUBA4B, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, WDR75, RHBDD1, C2orf88, ING5, PLCD4, MGC16025, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, LOC93463, ORMDL1, STK11IP, MOGAT1, AGAP1, TWIST2, PARD3B, TYW5, DIS3L2, NEU4, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, SPATA3, TMEM198, ZFAND2B, CPO, MDH1B, FBXO36, MTERF4, UBE2F, SATB2-AS1, OTOS, COPS9, OR6B3, ANKAR, FAM117B, LOC150935, LINC01963, KANSL1L, LINC01107, LOC151174, ERFE, METTL21A, CCNYL1, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, PIKFYVE, FAM237A, TIGD1, LOC200772, C2orf69, CFAP65, C2orf72, CCDC150, RTP5, LOC285095, LOC285097, FAM126B, UNC80, RUFY4, LOC285191, DUSP28, MROH2A, ESPNL, FTCDNL1, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, PLEKHM3, C2orf80, RESP18, C2orf82, OR6B2, DYTN, C2orf66, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, SNORA41, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, SNORD11, SNORD70, MIR562, D2HGDH, CROCC2, LOC729224, DIRC3, LOC729968, SNORD11B, LOC100128563, LOC100129175, PP14571, LOC100130451, LOC100130452, NEMP2, TRY-ATA1-1, MIR1471, MIR1302-4, MIR1245A, MIR1244-1, MIR548F2, BOK-AS1, MIR3129, MIR3133, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR4269, MIR3606, AGAP1-IT1, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR1245B, MIR2467, MIR4775, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, KIAA2012, MIR5001, MIR5702, MIR5703, RNU6-31P, VWC2L-IT1, LOC100996693, OSGEPL1-AS1, GPR1-AS, CAPN10-AS1, LINC01237, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR7845, MIR6810, LINC01238, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LOC105373805, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LINC01880, LOC105747689, LINC01173, SNORA105B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
78.
GRCh37:
Chr2:195763507-237382556
GRCh38:
Chr2:194898783-236473913
AAMP, ACADL, ALPI, ALPP, ALPPL2, AOX1, ATIC, BARD1, BCS1L, BMPR2, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL4A3, COL4A4, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, GPR1, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP5D, IRS1, KCNJ13, MAP2, MYL1, NCL, NDUFB3, NDUFS1, NEU2, NPPC, ORC2, PAX3, PDE6D, SERPINE2, PLCL1, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, CDK5R2, CNOT9, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, FARSB, ABCB6, ARPC2, ARL4C, ABI2, SPEG, LANCL1, NMUR1, SP140, IKZF2, FASTKD2, SATB2, OBSL1, SF3B1, DNPEP, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SPATS2L, GIGYF2, ABCA12, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SMARCAL1, NOP58, CAB39, PRKAG3, PPIL3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, TMBIM1, RNF25, COPS7B, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, PGAP1, TUBA4B, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ITM2C, RHBDD1, PLCD4, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, STK11IP,