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Items: 41

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:227069633
GRCh38:
Chr1:226881932
PSEN2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr1:227069657
GRCh38:
Chr1:226881956
PSEN2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr1:227071413
GRCh38:
Chr1:226883712
PSEN2Primary dilated cardiomyopathyUncertain significance
(Sep 29, 2014)
no assertion criteria provided
4.
GRCh37:
Chr1:227071430
GRCh38:
Chr1:226883729
PSEN2not providedGMAF:0.00060(A)Uncertain significance
(Jun 24, 2013)
criteria provided, single submitter
5.
GRCh37:
Chr1:227071449
GRCh38:
Chr1:226883748
PSEN2Alzheimer's disease, not providedGO-ESP:0.01438(A)
GMAF:0.01800(A)
Benign
(Jun 24, 2013)
criteria provided, single submitter
6.
GRCh37:
Chr1:227071469
GRCh38:
Chr1:226883768
PSEN2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
7.
GRCh37:
Chr1:227071472
GRCh38:
Chr1:226883771
PSEN2not providedLikely benign
(Jun 24, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr1:227071475
GRCh38:
Chr1:226883774
PSEN2not specifiedGMAF:0.00140(T)Likely benign
(Jun 24, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr1:227071518
GRCh38:
Chr1:226883817
PSEN2Alzheimer disease, type 4, not providedPathogenic
(Apr 22, 2008)
no assertion criteria provided
10.
GRCh37:
Chr1:227073246
GRCh38:
Chr1:226885545
PSEN2Alzheimer disease, type 4, not providedPathogenic
(Jan 1, 2000)
no assertion criteria provided
11.
GRCh37:
Chr1:227073247
GRCh38:
Chr1:226885546
PSEN2Alzheimer disease, type 4, not providedGMAF:0.00020(T)Pathogenic
(Dec 1, 2003)
no assertion criteria provided
12.
GRCh37:
Chr1:227073271
GRCh38:
Chr1:226885570
PSEN2Alzheimer's disease, Alzheimer disease, type 4, Dilated cardiomyopathy 1V,
not provided
GO-ESP:0.00069(T)
GMAF:0.00100(T)
Conflicting interpretations of pathogenicity, not provided
(Jun 24, 2013)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr1:227073304
GRCh38:
Chr1:226885603
PSEN2Alzheimer disease, type 4, not providedPathogenic
(Sep 1, 2011)
no assertion criteria provided
14.
GRCh37:
Chr1:227073324
GRCh38:
Chr1:226885623
PSEN2not providednot providedno assertion provided
15.
GRCh37:
Chr1:227076646
GRCh38:
Chr1:226888945
PSEN2not providednot providedno assertion provided
16.
GRCh37:
Chr1:227076673
GRCh38:
Chr1:226888972
PSEN2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
17.
GRCh37:
Chr1:227076678
GRCh38:
Chr1:226888977
PSEN2Alzheimer disease, type 4, not providedPathogenic
(Aug 31, 1995)
no assertion criteria provided
18.
GRCh37:
Chr1:227076680
GRCh38:
Chr1:226888979
PSEN2Alzheimer disease, type 4, not providedPathogenic
(Dec 23, 2010)
no assertion criteria provided
19.
GRCh37:
Chr1:227079474
GRCh38:
Chr1:226891773
PSEN2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr1:227081774
GRCh38:
Chr1:226894073
PSEN2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr1:227083222
GRCh38:
Chr1:226895521
PSEN2Alzheimer disease, type 4, not providedGO-ESP:0.00008(T)Pathogenic
(Aug 1, 2003)
no assertion criteria provided
22.
GRCh37:
Chr1:227083249
GRCh38:
Chr1:226895548
PSEN2Alzheimer's disease, Alzheimer disease, type 4, not provided
GO-ESP:0.00015(C)Conflicting interpretations of pathogenicity, not provided
(Jun 24, 2013)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr1:226871745-229906954
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
24.
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
25.
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, ADCK3, 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, KIAA1804, 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, LOC255654, SYT14, C1orf101, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, LOC101929541, LOC101929565, LOC101929631, LINC01352, LOC101929771, LOC101930114, MIR6742, MIR6741, LOC102723727, LOC102723833, LOC102723886, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LOC105372897, LOC105748977, SNORA100
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
26.
GRCh37:
Chr1:225569874-230554547
GRCh38:
Chr1:225382172-230418801
See casesPathogenic
(Mar 4, 2013)
no assertion criteria provided
27.
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, ADCK3, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, PCNX2, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, KIAA1804, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LOC255654, C1orf101, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, KIF28P, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, SNORA100
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
28.
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, ADCK3, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, KIAA1804, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LOC255654, C1orf101, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, 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, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, SNORA100
See casesPathogenic
(Sep 16, 2011)
no assertion criteria provided
29.
GRCh37:
Chr1:223521035-228744033
GRCh38:
Chr1:223347693-228556332
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
30.
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, ADCK3, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, KIAA1804, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LOC255654, C1orf101, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, 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, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, SNORA100
See casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
31.
GRCh37:
Chr1:226372825-233008234
GRCh38:
Chr1:226185124-232872488
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
32.
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, ADCK3, 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, KIAA1804, 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, LOC255654, SYT14, C1orf101, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, LOC101929541, LOC101929565, LOC101929631, LINC01352, LOC101929771, MIR6742, MIR6741, LOC102723727, LOC102723833, LOC102723886, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LOC105748977, SNORA100
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
33.
GRCh37:
Chr1:221692622-228997888
GRCh38:
Chr1:221519280-228862141
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr1:224283990-228047249
GRCh38:
Chr1:224096288-227859548
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
35.
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, ADCK3, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, KIAA1804, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LOC255654, C1orf101, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, 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, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, SNORA100
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
36.
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, ADCK3, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, KIAA1804, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LOC255654, C1orf101, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, 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, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, SNORA100
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
37.
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, ADCK3, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, KIAA1804, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LOC255654, C1orf101, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, 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, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, SNORA100
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
38.
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, ADCK3, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, HHIPL2, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, KIAA1804, ZNF496, C1orf198, DISP1, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, BROX, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LOC255654, C1orf101, 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, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, 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, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, SNORA100
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
39.
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, ADCK3, 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, KIAA1804, 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, LOC255654, SYT14, C1orf101, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, LOC101929541, LOC101929565, LOC101929631, LINC01352, LOC101929771, LOC101930114, MIR6742, MIR6741, LOC102723727, LOC102723833, LOC102723886, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LOC105748977, SNORA100
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
40.
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, ADCK3, 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, KIAA1804, 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, LOC255654, C1orf101, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, LOC101929631, LINC01352, LOC101929771, MIR6742, MIR6741, LOC102723833, LOC102723886, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, SNORA100
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
41.
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, ADCK3, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, KIAA1804, ZNF496, C1orf198, WNT3A, HIST3H2A, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, HIST3H2BB, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, LOC149373, RNF187, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LOC255654, C1orf101, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LOC339529, LINC01139, OR6F1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, CAPN8, COA6, C1orf229, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR2W5, OR13G1, C1orf145, IBA57-AS1, MT1HL1, LYPD8, SNORA14B, 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, 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, LOC101927532, LOC101927604, LOC101927683, LOC101927765, LOC101927787, LOC101927851, LOC101928068, LOC101928226, MIR6742, MIR6741, DISC1-IT1, SNORA100
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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