S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 78

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GNPATRhizomelic chondrodysplasia punctata type 2Pathogenic
(Jan 1, 2012)
no assertion criteria provided
2.
GNPATRhizomelic chondrodysplasia punctata type 2Pathogenic
(Jan 1, 2012)
no assertion criteria provided
3.
GNPATRhizomelic chondrodysplasia punctata type 2Pathogenic
(Jan 1, 2012)
no assertion criteria provided
4.
GNPATRhizomelic chondrodysplasia punctata type 2Pathogenic
(May 1, 1998)
no assertion criteria provided
5.
GNPATRhizomelic chondrodysplasia punctata type 2Pathogenic
(May 1, 1998)
no assertion criteria provided
6.
GNPATRhizomelic chondrodysplasia punctata type 2Pathogenic
(May 1, 1998)
no assertion criteria provided
7.
GRCh37:
Chr1:231376978
GRCh38:
Chr1:231241232
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:231376980
GRCh38:
Chr1:231241234
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:231377004
GRCh38:
Chr1:231241258
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:231377041
GRCh38:
Chr1:231241295
GNPATRhizomelic chondrodysplasia punctataLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:231377071
GRCh38:
Chr1:231241325
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr1:231377078
GRCh38:
Chr1:231241332
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:231377081
GRCh38:
Chr1:231241335
GNPATRhizomelic chondrodysplasia punctata, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:231377119
GRCh38:
Chr1:231241373
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:231377150
GRCh38:
Chr1:231241404
GNPATRhizomelic chondrodysplasia punctata, not specifiedBenign/Likely benign
(Jun 24, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:231377181
GRCh38:
Chr1:231241435
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr1:231396269
GRCh38:
Chr1:231260523
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:231396277
GRCh38:
Chr1:231260531
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:231396396
GRCh38:
Chr1:231260650
GNPATnot specifiedLikely benign
(Jul 15, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:231398506
GRCh38:
Chr1:231262760
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:231398555
GRCh38:
Chr1:231262809
GNPATRhizomelic chondrodysplasia punctata, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:231398585
GRCh38:
Chr1:231262839
GNPATRhizomelic chondrodysplasia punctata, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:231401028
GRCh38:
Chr1:231265282
GNPATnot specifiedUncertain significance
(Oct 21, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr1:231401075
GRCh38:
Chr1:231265329
GNPATnot specifiedUncertain significance
(Dec 24, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr1:231401078
GRCh38:
Chr1:231265332
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr1:231401101
GRCh38:
Chr1:231265355
GNPATRhizomelic chondrodysplasia punctata type 2Pathogenic
(May 1, 1998)
no assertion criteria provided
27.
GRCh37:
Chr1:231401102
GRCh38:
Chr1:231265356
GNPATRhizomelic chondrodysplasia punctata type 2Pathogenic
(Jan 15, 2001)
no assertion criteria provided
28.
GRCh37:
Chr1:231401467
GRCh38:
Chr1:231265721
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr1:231401785
GRCh38:
Chr1:231266039
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr1:231401902
GRCh38:
Chr1:231266156
GNPATRhizomelic chondrodysplasia punctata, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:231402105
GRCh38:
Chr1:231266359
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:231402128
GRCh38:
Chr1:231266382
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr1:231402129
GRCh38:
Chr1:231266383
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr1:231402141
GRCh38:
Chr1:231266395
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr1:231402142
GRCh38:
Chr1:231266396
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:231403442
GRCh38:
Chr1:231267696
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr1:231403582
GRCh38:
Chr1:231267836
GNPATRhizomelic chondrodysplasia punctata, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr1:231406496
GRCh38:
Chr1:231270750
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr1:231406531
GRCh38:
Chr1:231270785
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr1:231406532
GRCh38:
Chr1:231270786
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:231406648
GRCh38:
Chr1:231270902
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr1:231406677
GRCh38:
Chr1:231270931
GNPATRhizomelic chondrodysplasia punctata, not specifiedConflicting interpretations of pathogenicity
(Aug 4, 2016)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr1:231406703
GRCh38:
Chr1:231270957
GNPATRhizomelic chondrodysplasia punctata, not specifiedBenign/Likely benign
(Aug 1, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:231406707
GRCh38:
Chr1:231270961
GNPATRhizomelic chondrodysplasia punctataLikely benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr1:231406712
GRCh38:
Chr1:231270966
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr1:231406761
GRCh38:
Chr1:231271015
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr1:231408091
GRCh38:
Chr1:231272345
GNPATRhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata, not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr1:231409713
GRCh38:
Chr1:231273967
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr1:231409745
GRCh38:
Chr1:231273999
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr1:231410954
GRCh38:
Chr1:231275208
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr1:231411197
GRCh38:
Chr1:231275451
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:231411199
GRCh38:
Chr1:231275453
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:231411242
GRCh38:
Chr1:231275496
GNPATMalignant tumor of prostateUncertain significanceno assertion criteria provided
54.
GRCh37:
Chr1:231413268
GRCh38:
Chr1:231277522
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr1:231413290
GRCh38:
Chr1:231277544
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr1:231413411
GRCh38:
Chr1:231277665
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr1:231413483
GRCh38:
Chr1:231277737
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr1:231413677
GRCh38:
Chr1:231277931
GNPATRhizomelic chondrodysplasia punctataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr1:214697099-249224684
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CAPN2, CENPF, CHML, LYST, CHRM3, EPHX1, EPRS, ESRRG, FH, GALNT2, GNG4, GUK1, H3F3A, HLX, HNRNPU, ITPKB, KCNK1, KCNK2, LBR, LGALS8, MARK1, MTR, NID1, NVL, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TSNAX, USH2A, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, ARID4B, EGLN1, MAP10, MARC2, SUSD4, KIF26B, GPATCH2, HEATR1, SLC30A10, ZNF692, IARS2, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, DISP1, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, HIST3H2BB, BROX, SLC35F3, B3GALNT2, GCSAML, CNIH3, EXOC8, RNF187, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, CATSPERE, PGBD2, OR2L13, OR14A16, LIN9, VN1R5, ZNF678, PRSS38, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, TRIM67, MAP1LC3C, OR2W5, OR13G1, MT1HL1, LYPD8, BTNL10, LOC101927851
See casesPathogenicno assertion criteria provided
60.
GRCh37:
Chr1:231413309-231487406
GNPAT, SPRTN, EXOC8See casesLikely benignno assertion criteria provided
61.
GRCh37:
Chr1:195483439-249213000
ACTA1, ACTN2, ADORA1, PARP1, ADSS, AGT, ARF1, ATF3, ATP2B4, AVPR1B, C4BPA, C4BPB, CACNA1S, CAPN2, CD34, CENPF, CHI3L1, CHIT1, CHML, LYST, CHRM3, CR1, CR1L, CR2, CSRP1, CTSE, CD55, EIF2D, ELF3, ELK4, EPHX1, EPRS, ESRRG, F13B, FH, FMOD, NR5A2, GALNT2, GNG4, GPR25, GUK1, H3F3A, CFH, CFHR1, CFHR2, HLX, HNRNPU, HSD11B1, IL10, IRF6, ITPKB, KCNH1, KCNK1, KCNK2, KISS1, LAD1, LAMB3, LBR, LGALS8, MARK1, CD46, MDM4, MTR, MYBPH, MYOG, PPP1R12B, NEK2, NID1, NVL, CDK18, PFKFB2, PIGR, PIK3C2B, PKP1, PLXNA2, PPP2R5A, PRELP, PROX1, PSEN2, PTPN7, PTPN14, PTPRC, RAB4A, RABIF, RBBP5, REN, RGS7, RNPEP, RYR2, SNRPE, SRP9, TARBP1, CNTN2, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TNNI1, TNNT2, TP53BP2, TRAF5, TSNAX, USH2A, WNT9A, ZNF124, SLC30A1, BTG2, HIST3H3, GNPAT, DYRK3, CDC42BPA, PPFIA4, DEGS1, KMO, RAB29, TAF1A, EXO1, FCMR, MAPKAPK2, GPR37L1, GGPS1, SOX13, IKBKE, TMEM63A, TOMM20, URB2, CEP170, ZC3H11A, TMCC2, LPGAT1, KIF14, AKT3, BPNT1, TIMM17A, LRRN2, ZBTB18, LEFTY1, SPHAR, CAPN9, KDM5B, SDCCAG8, CFHR4, CFHR3, IL24, DUSP10, COG2, PLEKHA6, RBM34, KIF21B, NFASC, FBXO28, CAMSAP2, SRGAP2, CRB1, ABCB10, ZNF281, OPN3, PHLDA3, DSTYK, RAB3GAP2, LMOD1, TRIM58, INTS7, AHCTF1, NSL1, OR1C1, OR2M4, OR2L2, OPTC, OR2T1, RPS6KC1, DIEXF, TAF5L, DISC2, DISC1, FLVCR1, UBE2T, CNIH4, PYCR2, NENF, IL19, G0S2, IL20, RRP15, DESI2, ADIPOR1, SCCPDH, TRIM17, KCTD3, DTL, CYB5R1, ARID4B, EGLN1, MAP10, LAX1, MARC2, SUSD4, KIF26B, GPATCH2, HEATR1, KLHDC8A, ETNK2, TMEM206, YOD1, BATF3, SLC30A10, ZNF692, IARS2, IPO9, HHAT, ENAH, NUP133, RCOR3, C1orf106, SERTAD4, ERO1B, FMN2, SMYD2, LHX9, COQ8A, ZNF695, GJC2, CAMK1G, SIPA1L2, ZP4, RHOU, KLHL12, LGR6, TFB2M, GREM2, NUCKS1, ACBD3, SMYD3, MARC1, ARV1, AIDA, JMJD4, C1orf116, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, VASH2, ZNF669, ZNF672, PCNX2, WDR26, TRAF3IP3, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, CFHR5, TRIM11, NUAK2, DDX59, RASSF5, MIXL1, SPRTN, FCAMR, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, PPP1R15B, DISP1, SLC45A3, WNT3A, NAV1, ANGEL2, IGFN1, TMEM183A, HIST3H2A, LEMD1, ZNF670, NLRP3, SLC26A9, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, ATP6V1G3, DNAH14, OR2B11, ARL8A, SYT2, GOLT1A, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, HIST3H2BB, TATDN3, NEK7, C1orf74, BROX, SLC35F3, B3GALNT2, MFSD4A, PM20D1, GCSAML, CNIH3, SHISA4, EXOC8, RNF187, SPATA45, FAM71A, DENND1B, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, TMEM9, SLC41A1, OR2T6, SYT14, CATSPERE, ASPM, PGBD2, OR2L13, OR14A16, LIN9, VN1R5, ZNF678, PRSS38, RD3, OR6F1, OR2W3, OR2T8, OR2T3, KCNT2, OR2T29, IRF2BP2, ZBTB41, MIA3, STUM, FAM89A, C1orf53, TMEM81, CAPN8, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR181B1, MIR194-1, MIR205, MIR181A1, MIR215, MIR29C, C1orf186, TRIM67, MAP1LC3C, OR2W5, OR13G1, C1orf147, MIR205HG, FLVCR1-AS1, MT1HL1, LYPD8, ASCL5, FAM72A, C1orf132, BTNL10, ZBED6, PCAT6, LINC00538, LOC101927851
See casesPathogenicno assertion criteria provided
62.
GRCh37:
Chr1:207519987-249224684
GRCh38:
Chr1:207346642-248930485
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, ATF3, CAPN2, CD34, CENPF, CHML, LYST, CHRM3, CR1, CR1L, CR2, CD55, EPHX1, EPRS, ESRRG, FH, GALNT2, GNG4, GUK1, H3F3A, HLX, HNRNPU, HSD11B1, IRF6, ITPKB, KCNH1, KCNK1, KCNK2, LAMB3, LBR, LGALS8, MARK1, CD46, MTR, NEK2, NID1, NVL, PLXNA2, PPP2R5A, PROX1, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TRAF5, TSNAX, USH2A, WNT9A, ZNF124, SLC30A1, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, LPGAT1, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, INTS7, AHCTF1, NSL1, OR1C1, OR2M4, OR2L2, OR2T1, RPS6KC1, DIEXF, TAF5L, DISC2, DISC1, FLVCR1, CNIH4, PYCR2, NENF, G0S2, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, DTL, ARID4B, EGLN1, MAP10, MARC2, SUSD4, KIF26B, GPATCH2, HEATR1, TMEM206, BATF3, SLC30A10, ZNF692, IARS2, HHAT, ENAH, NUP133, RCOR3, SERTAD4, ERO1B, FMN2, SMYD2, COQ8A, ZNF695, GJC2, CAMK1G, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, VASH2, ZNF669, ZNF672, PCNX2, WDR26, TRAF3IP3, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, LOC91548, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, HIST3H2BB, TATDN3, C1orf74, BROX, SLC35F3, LOC148696, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SPATA45, FAM71A, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, SYT14, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, RD3, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, C1orf140, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR205, MIR215, MIR29B2, MIR29C, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, SERTAD4-AS1, OBSCN-AS1, IBA57-AS1, MIR205HG, FLVCR1-AS1, ZC3H11B, LYPLAL1-AS1, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, C1orf132, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, MIR664A, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR4260, MIR3122, MIR3620, MIR3916, PROX1-AS1, TAF1A-AS1, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, LINC00538, HLX-AS1, CHRM3-AS1, KCNH1-IT1, LINC00210, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, LINC01698, LOC101929541, LINC01740, LINC01653, LINC01352, LINC01655, LOC101930114, MIR6742, MIR6741, LOC102723727, LOC102723833, LOC102723886, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LINC01717, LINC01774, LINC01696, LINC01710, LINC02257, LINC01703, LOC105373159, LINC01745, LINC01693, SNORA100, ACBD3-AS1
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
63.
GRCh37:
Chr1:225626182-249060210
GRCh38:
Chr1:225438480-248787200
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3F3A, HNRNPU, ITPKB, KCNK1, LGALS8, MTR, NID1, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, PCNX2, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR3123, MIR3620, MIR3916, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR5008, CHRM3-AS1, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
64.
GRCh37:
Chr1:224210564-249212668
GRCh38:
Chr1:224022862-248918469
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3F3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Sep 16, 2011)
no assertion criteria provided
65.
GRCh37:
Chr1:229158656-249212668
GRCh38:
Chr1:229022909-248918469
ACTA1, ACTN2, ADSS, AGT, CHML, LYST, CHRM3, FH, GALNT2, GNG4, HNRNPU, KCNK1, LGALS8, MTR, NID1, RAB4A, RGS7, RYR2, TARBP1, TBCE, GPR137B, TSNAX, ZNF124, GNPAT, KMO, EXO1, GGPS1, TOMM20, URB2, CEP170, AKT3, ZBTB18, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, DESI2, SCCPDH, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, NUP133, ERO1B, FMN2, ZNF695, SIPA1L2, ZP4, TFB2M, GREM2, SMYD3, ARV1, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, SPRTN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, ZNF670, NLRP3, COX20, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, LINC01341, EXOC8, LOC149373, CNST, PLD5, C1orf100, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, VN1R5, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, FAM89A, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, KIF28P, PP2672, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR3123, MIR3124, MIR3916, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4677, MIR4671, MIR4427, CHRM3-AS1, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, DISC1-IT1, LOC105373159, LINC01745, SNORA100
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
66.
GRCh37:
Chr1:224002849-249212668
GRCh38:
Chr1:223815147-248918469
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3F3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TP53BP2, TSNAX, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
67.
GRCh37:
Chr1:226372825-233008234
GRCh38:
Chr1:226185124-232872488
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
68.
GRCh37:
Chr1:210136970-249212668
GRCh38:
Chr1:209963625-248918469
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, ATF3, CAPN2, CENPF, CHML, LYST, CHRM3, EPHX1, EPRS, ESRRG, FH, GALNT2, GNG4, GUK1, H3F3A, HLX, HNRNPU, ITPKB, KCNH1, KCNK1, KCNK2, LBR, LGALS8, MARK1, MTR, NEK2, NID1, NVL, PPP2R5A, PROX1, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TRAF5, TSNAX, USH2A, WNT9A, ZNF124, SLC30A1, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, LPGAT1, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, INTS7, AHCTF1, NSL1, OR1C1, OR2M4, OR2L2, OR2T1, RPS6KC1, TAF5L, DISC2, DISC1, FLVCR1, CNIH4, PYCR2, NENF, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, DTL, ARID4B, EGLN1, MAP10, MARC2, SUSD4, KIF26B, GPATCH2, HEATR1, TMEM206, BATF3, SLC30A10, ZNF692, IARS2, HHAT, ENAH, NUP133, RCOR3, SERTAD4, ERO1B, FMN2, SMYD2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, VASH2, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, LOC91548, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, HIST3H2BB, TATDN3, BROX, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SPATA45, FAM71A, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, SYT14, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, RD3, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, C1orf140, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, SERTAD4-AS1, OBSCN-AS1, IBA57-AS1, FLVCR1-AS1, ZC3H11B, LYPLAL1-AS1, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, MIR664A, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3122, MIR3620, MIR3916, PROX1-AS1, TAF1A-AS1, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, LINC00538, HLX-AS1, CHRM3-AS1, KCNH1-IT1, LINC00210, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, LOC101929541, LINC01740, LINC01653, LINC01352, LINC01655, MIR6742, MIR6741, LOC102723727, LOC102723833, LOC102723886, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LINC01710, LINC02257, LINC01703, LOC105373159, LINC01745, LINC01693, SNORA100, ACBD3-AS1
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
69.
GRCh37:
Chr1:224284190-249212668
GRCh38:
Chr1:224096488-248918469
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3F3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
70.
GRCh37:
Chr1:224075482-249185508
GRCh38:
Chr1:223887780-248891309
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3F3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
71.
GRCh37:
Chr1:224016202-249185508
GRCh38:
Chr1:223828500-248891309
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3F3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TP53BP2, TSNAX, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
72.
GRCh37:
Chr1:222075881-249212668
GRCh38:
Chr1:221902539-248918469
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CAPN2, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3F3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, TLR5, GPR137B, TP53BP2, TSNAX, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, SUSD4, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, HHIPL2, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, DISP1, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, BROX, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, TAF1A-AS1, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, LINC02257, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
73.
GRCh37:
Chr1:209819552-249225312
GRCh38:
Chr1:209646207-248931113
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, ATF3, CAPN2, CENPF, CHML, LYST, CHRM3, EPHX1, EPRS, ESRRG, FH, GALNT2, GNG4, GUK1, H3F3A, HLX, HNRNPU, HSD11B1, IRF6, ITPKB, KCNH1, KCNK1, KCNK2, LAMB3, LBR, LGALS8, MARK1, MTR, NEK2, NID1, NVL, PPP2R5A, PROX1, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TRAF5, TSNAX, USH2A, WNT9A, ZNF124, SLC30A1, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, LPGAT1, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, INTS7, AHCTF1, NSL1, OR1C1, OR2M4, OR2L2, OR2T1, RPS6KC1, DIEXF, TAF5L, DISC2, DISC1, FLVCR1, CNIH4, PYCR2, NENF, G0S2, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, DTL, ARID4B, EGLN1, MAP10, MARC2, SUSD4, KIF26B, GPATCH2, HEATR1, TMEM206, BATF3, SLC30A10, ZNF692, IARS2, HHAT, ENAH, NUP133, RCOR3, SERTAD4, ERO1B, FMN2, SMYD2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, VASH2, ZNF669, ZNF672, PCNX2, WDR26, TRAF3IP3, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, LOC91548, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, HIST3H2BB, TATDN3, C1orf74, BROX, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SPATA45, FAM71A, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, SYT14, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, RD3, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, C1orf140, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, SERTAD4-AS1, OBSCN-AS1, IBA57-AS1, FLVCR1-AS1, ZC3H11B, LYPLAL1-AS1, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, MIR664A, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3122, MIR3620, MIR3916, PROX1-AS1, TAF1A-AS1, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, LINC00538, HLX-AS1, CHRM3-AS1, KCNH1-IT1, LINC00210, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, LOC101929541, LINC01740, LINC01653, LINC01352, LINC01655, LOC101930114, MIR6742, MIR6741, LOC102723727, LOC102723833, LOC102723886, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LINC01710, LINC02257, LINC01703, LOC105373159, LINC01745, LINC01693, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
74.
GRCh37:
Chr1:230625403-231378949
GRCh38:
Chr1:230489657-231243203
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
75.
GRCh37:
Chr1:230019552-231653299
GRCh38:
Chr1:229883805-231517553
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
76.
GRCh37:
Chr1:230242018-243840585
GRCh38:
Chr1:230106271-243677283
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
77.
GRCh37:
Chr1:214197155-249212668
GRCh38:
Chr1:214023812-248918469
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CAPN2, CENPF, CHML, LYST, CHRM3, EPHX1, EPRS, ESRRG, FH, GALNT2, GNG4, GUK1, H3F3A, HLX, HNRNPU, ITPKB, KCNK1, KCNK2, LBR, LGALS8, MARK1, MTR, NID1, NVL, PROX1, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TSNAX, USH2A, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, ARID4B, EGLN1, MAP10, MARC2, SUSD4, KIF26B, GPATCH2, HEATR1, SLC30A10, ZNF692, IARS2, ENAH, NUP133, ERO1B, FMN2, SMYD2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, DISP1, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, HIST3H2BB, BROX, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, C1orf140, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, ZC3H11B, LYPLAL1-AS1, MT1HL1, LYPD8, SNORA14B, SNORA36B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, MIR664A, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, TAF1A-AS1, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, HLX-AS1, CHRM3-AS1, LINC00210, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, LINC01653, LINC01352, LINC01655, MIR6742, MIR6741, LOC102723833, LOC102723886, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LINC01710, LINC02257, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
78.
GRCh37:
Chr1:223521035-249212668
GRCh38:
Chr1:223347693-248918469
ACTA1, ACTN2, PARP1, ADSS, AGT, ARF1, CAPN2, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3F3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TP53BP2, TSNAX, WNT9A, ZNF124, HIST3H3, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, SUSD4, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, CAPN8, COA6, C1orf229, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, OBSCN-AS1, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, LINC01703, LOC105373159, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center