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Items: 56

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:219990803-220091941
GRCh38:
Chr1:219817461-219918599
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
2.
GRCh37:
Chr1:220087663
GRCh38:
Chr1:219914321
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisBenign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:220087703
GRCh38:
Chr1:219914361
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:220087846
GRCh38:
Chr1:219914504
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:220088047
GRCh38:
Chr1:219914705
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisBenign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:220088394
GRCh38:
Chr1:219915052
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:220088515
GRCh38:
Chr1:219915173
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:220088552
GRCh38:
Chr1:219915210
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:220088800
GRCh38:
Chr1:219915458
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:220088977
GRCh38:
Chr1:219915635
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:220089000
GRCh38:
Chr1:219915658
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr1:220089014
GRCh38:
Chr1:219915672
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
13.
GRCh37:
Chr1:220089131
GRCh38:
Chr1:219915789
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr1:220089181
GRCh38:
Chr1:219915839
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:220089203
GRCh38:
Chr1:219915861
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
16.
GRCh37:
Chr1:220089243
GRCh38:
Chr1:219915901
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Feb 9, 2017)
no assertion criteria provided
17.
GRCh37:
Chr1:220091633
GRCh38:
Chr1:219918291
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
18.
GRCh37:
Chr1:220091648
GRCh38:
Chr1:219918306
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:220091788-220091790
GRCh38:
Chr1:219918446-219918448
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
20.
GRCh37:
Chr1:220091842
GRCh38:
Chr1:219918500
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:220100412
GRCh38:
Chr1:219927070
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:220101133
GRCh38:
Chr1:219927791
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:220101198
GRCh38:
Chr1:219927856
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 9, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr1:220101230-220101287
GRCh38:
Chr1:219927888-219927945
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Feb 9, 2017)
no assertion criteria provided
25.
GRCh37:
Chr1:220101267
GRCh38:
Chr1:219927925
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr1:220101276
GRCh38:
Chr1:219927934
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
27.
GRCh37:
Chr1:220101283
GRCh38:
Chr1:219927941
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
28.
GRCh37:
Chr1:220101291
GRCh38:
Chr1:219927949
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Feb 9, 2017)
no assertion criteria provided
29.
GRCh37:
Chr1:220101323
GRCh38:
Chr1:219927981
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Feb 9, 2017)
no assertion criteria provided
30.
GRCh37:
Chr1:220101343
GRCh38:
Chr1:219928001
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr1:220101381-220101491
GRCh38:
Chr1:219928039-219928149
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
32.
GRCh37:
Chr1:220101461-220101469
GRCh38:
Chr1:219928119-219928127
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
33.
GRCh37:
Chr1:220101499
GRCh38:
Chr1:219928157
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr1:220101517
GRCh38:
Chr1:219928175
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisPathogenic
(Aug 30, 2012)
no assertion criteria provided
35.
GRCh37:
Chr1:220101707
GRCh38:
Chr1:219928365
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:220101801
GRCh38:
Chr1:219928459
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr1:220101802
GRCh38:
Chr1:219928460
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr1:220101836
GRCh38:
Chr1:219928494
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr1:220101850
GRCh38:
Chr1:219928508
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr1:220101852
GRCh38:
Chr1:219928510
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:220101869
GRCh38:
Chr1:219928527
SLC30A10Hypermanganesemia with dystonia, polycythemia and cirrhosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
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
43.
GRCh37:
Chr1:220089258-220100436
SLC30A10See casesLikely benignno assertion criteria provided
44.
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
45.
GRCh37:
Chr1:197811907-228997888
ADORA1, PARP1, ARF1, ATF3, ATP2B4, AVPR1B, C4BPA, C4BPB, CACNA1S, CAPN2, CD34, CENPF, CHI3L1, CHIT1, CR1, CR1L, CR2, CSRP1, CTSE, CD55, EIF2D, ELF3, ELK4, EPHX1, EPRS, ESRRG, FMOD, NR5A2, GPR25, GUK1, H3F3A, HLX, HSD11B1, IL10, IRF6, ITPKB, KCNH1, KCNK2, KISS1, LAD1, LAMB3, LBR, MARK1, CD46, MDM4, MYBPH, MYOG, PPP1R12B, NEK2, NVL, CDK18, PFKFB2, PIGR, PIK3C2B, PKP1, PLXNA2, PPP2R5A, PRELP, PROX1, PSEN2, PTPN7, PTPN14, PTPRC, RABIF, RBBP5, REN, RNPEP, SNRPE, SRP9, CNTN2, TGFB2, LEFTY2, TLR5, TNNI1, TNNT2, TP53BP2, TRAF5, USH2A, WNT9A, SLC30A1, BTG2, HIST3H3, DYRK3, CDC42BPA, PPFIA4, DEGS1, RAB29, TAF1A, FCMR, MAPKAPK2, GPR37L1, SOX13, IKBKE, TMEM63A, ZC3H11A, TMCC2, LPGAT1, KIF14, BPNT1, TIMM17A, LRRN2, LEFTY1, KDM5B, IL24, DUSP10, PLEKHA6, KIF21B, NFASC, FBXO28, CAMSAP2, SRGAP2, ZNF281, PHLDA3, DSTYK, RAB3GAP2, LMOD1, INTS7, NSL1, OPTC, RPS6KC1, DIEXF, FLVCR1, UBE2T, CNIH4, PYCR2, NENF, IL19, G0S2, IL20, RRP15, ADIPOR1, TRIM17, KCTD3, DTL, CYB5R1, LAX1, MARC2, SUSD4, GPATCH2, KLHDC8A, ETNK2, TMEM206, YOD1, BATF3, SLC30A10, IARS2, IPO9, HHAT, ENAH, RCOR3, C1orf106, SERTAD4, SMYD2, LHX9, COQ8A, GJC2, CAMK1G, RHOU, KLHL12, LGR6, NUCKS1, ACBD3, MARC1, AIDA, JMJD4, C1orf116, C1orf35, C1orf115, HHIPL2, VASH2, WDR26, TRAF3IP3, TRIM11, NUAK2, DDX59, RASSF5, MIXL1, FCAMR, OBSCN, PPP1R15B, DISP1, SLC45A3, WNT3A, NAV1, ANGEL2, IGFN1, TMEM183A, HIST3H2A, LEMD1, SLC26A9, SNAP47, LYPLAL1, ATP6V1G3, DNAH14, ARL8A, SYT2, GOLT1A, SPATA17, MRPL55, HIST3H2BB, TATDN3, NEK7, C1orf74, BROX, MFSD4A, PM20D1, CNIH3, SHISA4, RNF187, SPATA45, FAM71A, SDE2, CCDC185, IBA57, TMEM9, SLC41A1, SYT14, LIN9, ZNF678, PRSS38, RD3, MIA3, STUM, C1orf53, TMEM81, CAPN8, FAM177B, MIR181B1, MIR194-1, MIR205, MIR181A1, MIR215, MIR29C, C1orf186, C1orf147, MIR205HG, FLVCR1-AS1, ASCL5, FAM72A, C1orf132, BTNL10, ZBED6, PCAT6, LINC00538
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr1:216672181-220202575
EPRS, ESRRG, TGFB2, RRP15, GPATCH2, SLC30A10, LYPLAL1, SPATA17Loeys-Dietz syndrome 4Pathogeniccriteria provided, single submitter
47.
GRCh37:
Chr1:215588712-222145072
Loeys-Dietz syndrome 4Pathogeniccriteria provided, single submitter
48.
GRCh37:
Chr1:215380103-222177410
GRCh38:
Chr1:215206760-222004068
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
49.
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, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, 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, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, C1orf140, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR205, MIR215, MIR29B2, MIR29C, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, SERTAD4-AS1, C1orf145, IBA57-AS1, MIR205HG, FLVCR1-AS1, LYPLAL1-AS1, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, C1orf132, BTNL10, LOC100130093, KIF28P, 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, LINC01703, LINC01745, LINC01693, SNORA100, ACBD3-AS1
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
50.
GRCh37:
Chr1:204734042-225596400
GRCh38:
Chr1:204764914-225408698
ATF3, AVPR1B, C4BPA, C4BPB, CAPN2, CD34, CENPF, CR1, CR1L, CR2, CTSE, CD55, EIF2D, ELK4, EPRS, ESRRG, HLX, HSD11B1, IL10, IRF6, KCNH1, KCNK2, LAMB3, LBR, MARK1, CD46, NEK2, NVL, CDK18, PFKFB2, PIGR, PLXNA2, PPP2R5A, PROX1, PTPN14, RBBP5, CNTN2, TGFB2, TLR5, TP53BP2, TRAF5, USH2A, SLC30A1, DYRK3, DEGS1, RAB29, TAF1A, FCMR, MAPKAPK2, IKBKE, TMCC2, LPGAT1, BPNT1, IL24, DUSP10, NFASC, FBXO28, SRGAP2, DSTYK, RAB3GAP2, INTS7, NSL1, RPS6KC1, DIEXF, FLVCR1, CNIH4, NENF, IL19, G0S2, IL20, RRP15, KCTD3, DTL, MARC2, SUSD4, GPATCH2, KLHDC8A, TMEM206, YOD1, BATF3, SLC30A10, IARS2, HHAT, RCOR3, SERTAD4, SMYD2, CAMK1G, NUCKS1, MARC1, AIDA, C1orf116, C1orf115, HHIPL2, VASH2, WDR26, TRAF3IP3, NUAK2, RASSF5, FCAMR, LINC00467, DISP1, SLC45A3, ANGEL2, LEMD1, SLC26A9, LYPLAL1, DNAH14, SPATA17, TATDN3, C1orf74, BROX, LOC148696, MFSD4A, PM20D1, CNIH3, SPATA45, FAM71A, CCDC185, SLC41A1, SYT14, LEMD1-AS1, LOC284578, LOC284581, RAB7B, RD3, MIA3, TMEM81, CAPN8, C1orf140, FAM177B, MIR194-1, MIR205, MIR215, MIR29B2, MIR29C, C1orf186, MIR135B, SERTAD4-AS1, C1orf147, MIR205HG, FLVCR1-AS1, LYPLAL1-AS1, SNORA36B, SNORA16B, TGFB2-AS1, FAM72A, C1orf132, TRK-TTT8-1, TRT-TGT2-1, MIR664A, MIR320B2, MIR4260, MIR3122, PROX1-AS1, TAF1A-AS1, MIR4742, LINC00538, HLX-AS1, KCNH1-IT1, LINC00210, BLACAT1, LOC101927143, LOC101927164, LINC01698, LOC101929541, LINC01740, LINC01653, LINC01352, LINC01655, LOC101930114, MIR6769B, LOC102723727, LOC102723833, LOC102723886, LOC103021295, LOC103021296, TGFB2-OT1, SPATA17-AS1, LINC01717, LINC01774, LINC01696, LINC01710, LINC01693
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
51.
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, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, 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, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, C1orf140, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, SERTAD4-AS1, C1orf145, IBA57-AS1, FLVCR1-AS1, LYPLAL1-AS1, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, 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, LINC01703, LINC01745, LINC01693, SNORA100, ACBD3-AS1
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
52.
GRCh37:
Chr1:215620690-222145174
GRCh38:
Chr1:215447347-221971832
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
53.
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, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, 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, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, C1orf140, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, SERTAD4-AS1, OBSCN-AS1, IBA57-AS1, FLVCR1-AS1, LYPLAL1-AS1, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, 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, LINC01703, LINC01745, LINC01693, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
54.
GRCh37:
Chr1:187113113-224487119
GRCh38:
Chr1:187143981-224299417
ADORA1, ATF3, ATP2B4, AVPR1B, C4BPA, C4BPB, CACNA1S, CAPN2, CD34, CENPF, CHI3L1, CHIT1, CR1, CR1L, CR2, CSRP1, CTSE, CD55, EIF2D, ELF3, ELK4, EPRS, ESRRG, F13B, FMOD, NR5A2, GPR25, CFH, CFHR1, CFHR2, HLX, HSD11B1, IL10, IRF6, KCNH1, KCNK2, KISS1, LAD1, LAMB3, MARK1, CD46, MDM4, MYBPH, MYOG, PPP1R12B, NEK2, NVL, CDK18, PFKFB2, PIGR, PIK3C2B, PKP1, PLXNA2, PPP2R5A, PRELP, PROX1, PTPN7, PTPN14, PTPRC, RABIF, RBBP5, REN, RGS1, RGS2, RGS13, RNPEP, SNRPE, TROVE2, CNTN2, TGFB2, TLR5, TNNI1, TNNT2, TP53BP2, TRAF5, USH2A, SLC30A1, BTG2, DYRK3, PPFIA4, DEGS1, B3GALT2, RAB29, TAF1A, FCMR, MAPKAPK2, GPR37L1, SOX13, IKBKE, ZC3H11A, TMCC2, LPGAT1, KIF14, BPNT1, TIMM17A, LRRN2, KDM5B, CFHR4, CFHR3, IL24, DUSP10, PLEKHA6, KIF21B, NFASC, FBXO28, CAMSAP2, SRGAP2, CRB1, ZNF281, PHLDA3, DSTYK, RAB3GAP2, LMOD1, INTS7, NSL1, OPTC, RPS6KC1, DIEXF, FLVCR1, UBE2T, NENF, IL19, G0S2, IL20, RRP15, GLRX2, ADIPOR1, KCTD3, UCHL5, DTL, CYB5R1, LAX1, MARC2, SUSD4, GPATCH2, KLHDC8A, ETNK2, TMEM206, YOD1, BATF3, SLC30A10, IARS2, IPO9, HHAT, RCOR3, C1orf106, SERTAD4, SMYD2, LHX9, CAMK1G, KLHL12, LGR6, RGS18, NUCKS1, MARC1, AIDA, C1orf116, CDC73, C1orf115, HHIPL2, VASH2, TRAF3IP3, CFHR5, NUAK2, DDX59, RASSF5, FCAMR, LINC00260, LINC00467, PPP1R15B, DISP1, SLC45A3, NAV1, ANGEL2, IGFN1, TMEM183A, LEMD1, SLC26A9, LYPLAL1, ATP6V1G3, ARL8A, SYT2, LINC00628, GOLT1A, SPATA17, TATDN3, NEK7, C1orf74, BROX, LOC148696, MFSD4A, PM20D1, SHISA4, SPATA45, FAM71A, DENND1B, CCDC185, TMEM9, SLC41A1, SYT14, ASPM, LINC00303, LEMD1-AS1, LOC284578, LOC284581, RAB7B, BRINP3, RD3, KCNT2, ZBTB41, MIA3, C1orf53, TMEM81, CAPN8, C1orf140, FAM177B, MIR181B1, MIR194-1, MIR205, MIR181A1, MIR215, MIR29B2, MIR29C, RGS21, LINC01720, C1orf186, MIR135B, LINC00862, SERTAD4-AS1, C1orf147, MIR205HG, FLVCR1-AS1, LYPLAL1-AS1, MROH3P, ASCL5, SNORA36B, SNORA77, SNORA16B, TGFB2-AS1, FAM72A, LINC01136, C1orf132, MIR181A1HG, TRK-TTT8-1, TRK-TTT3-1, TRT-TGT2-1, TRK-TTT3-2, MIR1231, MIR1278, MIR664A, MIR320B2, ZBED6, MIR4260, MIR3122, PROX1-AS1, TAF1A-AS1, PCAT6, LINC01353, MIR4426, MIR4735, MIR5191, LINC00538, HLX-AS1, IPO9-AS1, KCNH1-IT1, LINC00210, BLACAT1, LOC101927143, LOC101927164, LINC01351, LINC01031, LOC101929224, LOC101929441, LINC01698, LOC101929541, LINC01740, LINC01653, LINC01352, LINC01655, LOC101930114, MIR6740, MIR6769B, MIR6739, ELF3-AS1, LOC102723727, LOC102723833, LOC102723886, LINC01032, LINC01222, LOC103021295, LOC103021296, TGFB2-OT1, SPATA17-AS1, LINC01036, LINC01221, LINC01680, LINC01724, LINC01717, LINC01774, LINC01696, LINC01710, LINC01693, LINC01037, SCARNA18B, LOC107985246
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
55.
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, 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, 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, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, C1orf140, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, LYPLAL1-AS1, MT1HL1, LYPD8, SNORA14B, SNORA36B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, 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, LINC01703, LINC01745, SNORA100, ACBD3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr1:215380103-222177410
GRCh38:
Chr1:215206760-222004068
See casesPathogenic
(May 27, 2010)
no assertion criteria provided
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