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Items: 1 to 100 of 105

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:14180777
GRCh38:
Chr3:14139277
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Mar 27, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr3:14176378
GRCh38:
Chr3:14134878
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Jan 31, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr3:14174082
GRCh38:
Chr3:14132582
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5GMAF:0.00020(A)Likely benign
(Mar 11, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr3:14171035
GRCh38:
Chr3:14129535
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 24, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr3:14183153
GRCh38:
Chr3:14141653
TMEM43not specifiedUncertain significance
(Dec 11, 2012)
no assertion criteria provided
6.
GRCh37:
Chr3:14175312
GRCh38:
Chr3:14133812
TMEM43not specifiedUncertain significance
(Mar 21, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr3:14174055
GRCh38:
Chr3:14132555
TMEM43not specifiedLikely benign
(Mar 19, 2012)
criteria provided, single submitter
8.
GRCh37:
Chr3:14174052
GRCh38:
Chr3:14132552
TMEM43not specifiedLikely benign
(Apr 7, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr3:14180718
GRCh38:
Chr3:14139218
TMEM43not specifiedBenign
(May 7, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr3:14177329
GRCh38:
Chr3:14135829
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, Primary dilated cardiomyopathyUncertain significance
(Jan 17, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:14183113
GRCh38:
Chr3:14141613
TMEM43CardiomyopathyLikely pathogeniccriteria provided, single submitter
12.
GRCh37:
Chr3:14170961
GRCh38:
Chr3:14129461
TMEM43not specifiedUncertain significance
(Oct 7, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr3:14170982-14170986
GRCh38:
Chr3:14129482-14129486
TMEM43not providedUncertain significance
(Apr 10, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr3:14174432
GRCh38:
Chr3:14132932
TMEM43not specifiedUncertain significance
(Apr 15, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr3:14174077
GRCh38:
Chr3:14132577
TMEM43not specifiedGMAF:0.00080(A)Uncertain significance
(Jun 1, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr3:14174065
GRCh38:
Chr3:14132565
TMEM43not providedUncertain significance
(Jul 22, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr3:14174063
GRCh38:
Chr3:14132563
TMEM43not specifiedUncertain significance
(Nov 25, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr3:14173126
GRCh38:
Chr3:14131626
TMEM43not specifiedUncertain significance
(Apr 19, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr3:14173119
GRCh38:
Chr3:14131619
TMEM43not specifiedUncertain significance
(Nov 25, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr3:14172445
GRCh38:
Chr3:14130945
TMEM43not specifiedUncertain significance
(Apr 25, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr3:14172403
GRCh38:
Chr3:14130903
TMEM43not specifiedUncertain significance
(Jun 6, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr3:14172457
GRCh38:
Chr3:14130957
TMEM43not providedPathogenic
(Jun 5, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr3:14172373
GRCh38:
Chr3:14130873
TMEM43not specifiedUncertain significance
(May 18, 2012)
criteria provided, single submitter
24.
GRCh37:
Chr3:14183207
GRCh38:
Chr3:14141707
TMEM43not specifiedUncertain significance
(Oct 11, 2013)
criteria provided, single submitter
25.
GRCh37:
Chr3:14183192
GRCh38:
Chr3:14141692
TMEM43not providedLikely pathogenic
(Apr 27, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr3:14177385
GRCh38:
Chr3:14135885
TMEM43not specifiedUncertain significance
(May 6, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr3:14176703
GRCh38:
Chr3:14135203
TMEM43not specifiedUncertain significance
(Sep 22, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr3:14176670
GRCh38:
Chr3:14135170
TMEM43not specifiedUncertain significance
(Nov 11, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr3:14176347
GRCh38:
Chr3:14134847
TMEM43not specifiedGMAF:0.00060(T)Uncertain significance
(Sep 24, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr3:14176345
GRCh38:
Chr3:14134845
TMEM43not specifiedGMAF:0.00020(T)Uncertain significance
(Feb 19, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr3:14176287
GRCh38:
Chr3:14134787
TMEM43not providedGMAF:0.00060(A)Uncertain significance
(May 21, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr3:14170997
GRCh38:
Chr3:14129497
TMEM43not specifiedGMAF:0.00020(T)Likely benign
(Apr 10, 2013)
criteria provided, single submitter
33.
GRCh37:
Chr3:14183233
GRCh38:
Chr3:14141733
TMEM43not specifiedLikely benign
(Aug 17, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr3:14180693
GRCh38:
Chr3:14139193
TMEM43not providedGMAF:0.00120(C)Likely benign
(Oct 31, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr3:14177433
GRCh38:
Chr3:14135933
TMEM43not providedGMAF:0.00060(A)Likely benign
(Jun 24, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr3:14183182
GRCh38:
Chr3:14141682
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
37.
GRCh37:
Chr3:14172455
GRCh38:
Chr3:14130955
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
38.
GRCh37:
Chr3:14172377
GRCh38:
Chr3:14130877
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
39.
GRCh37:
Chr3:14172365
GRCh38:
Chr3:14130865
TMEM43not providedGMAF:0.00040(T)Uncertain significance
(Jun 24, 2013)
criteria provided, single submitter
40.
GRCh37:
Chr3:14172323
GRCh38:
Chr3:14130823
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr3:14171020
GRCh38:
Chr3:14129520
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
42.
GRCh37:
Chr3:14183311
GRCh38:
Chr3:14141811
TMEM43not specifiedGMAF:0.00620(T)Likely benignno assertion criteria provided
43.
GRCh37:
Chr3:14183151
GRCh38:
Chr3:14141651
TMEM43CardiomyopathyUncertain significance
(Feb 25, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr3:14177391
GRCh38:
Chr3:14135891
TMEM43CardiomyopathyUncertain significance
(May 26, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr3:14177322
GRCh38:
Chr3:14135822
TMEM43CardiomyopathyGMAF:0.00020(T)Uncertain significance
(Oct 28, 2014)
no assertion criteria provided
46.
GRCh37:
Chr3:14176344
GRCh38:
Chr3:14134844
TMEM43Primary familial hypertrophic cardiomyopathyLikely benign
(Sep 17, 2014)
no assertion criteria provided
47.
GRCh37:
Chr3:14176330
GRCh38:
Chr3:14134830
TMEM43Long QT syndromeUncertain significance
(Oct 6, 2014)
no assertion criteria provided
48.
GRCh37:
Chr3:14170912
GRCh38:
Chr3:14129412
TMEM43not specifiedUncertain significance
(Aug 21, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr3:14180665
GRCh38:
Chr3:14139165
TMEM43not specifiedUncertain significance
(Mar 12, 2014)
criteria provided, single submitter
50.
GRCh37:
Chr3:14174081
GRCh38:
Chr3:14132581
TMEM43not specifiedGMAF:0.00040(T)Uncertain significance
(Sep 30, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr3:14177376
GRCh38:
Chr3:14135876
TMEM43not specifiedUncertain significance
(Sep 27, 2013)
criteria provided, single submitter
52.
GRCh37:
Chr3:14171046
GRCh38:
Chr3:14129546
TMEM43not specifiedLikely benign
(Jul 17, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr3:14172319
GRCh38:
Chr3:14130819
TMEM43not specifiedBenign
(Jun 23, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr3:14174407
GRCh38:
Chr3:14132907
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedUncertain significance
(Nov 25, 2015)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr3:14174102
GRCh38:
Chr3:14132602
TMEM43not specifiedLikely benign
(Apr 26, 2013)
criteria provided, single submitter
56.
GRCh37:
Chr3:14172439
GRCh38:
Chr3:14130939
TMEM43not specifiedUncertain significance
(May 16, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr3:14170944
GRCh38:
Chr3:14129444
TMEM43not specifiedGMAF:0.00060(A)Benign/Likely benign
(Jul 10, 2014)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr3:14176384
GRCh38:
Chr3:14134884
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedGMAF:0.00520(G)Benign
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:14183187
GRCh38:
Chr3:14141687
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedLikely benign
(Mar 1, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr3:14177355
GRCh38:
Chr3:14135855
TMEM43not specifiedGMAF:0.00180(T)Conflicting interpretations of pathogenicity
(Feb 16, 2015)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr3:14173105
GRCh38:
Chr3:14131605
TMEM43not specified, not providedGMAF:0.00020(C)Uncertain significance
(Jul 1, 2015)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:7397797-14401942
GRCh38:
Chr3:7356110-14360442
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
63.
GRCh37:
Chr3:94991-41423012
GRCh38:
Chr3:53308-41381521
ACAA1, ACVR2B, ATP2B2, BTD, CAV3, ENTPD3, CCR4, CCR8, CTNNB1, CX3CR1, DAZL, FANCD2, FBLN2, GLB1, GOLGA4, GRM7, HRH1, IL5RA, IRAK2, ITGA9, ITPR1, RPSA, MLH1, MOBP, MYD88, OGG1, OXTR, PLCD1, PPARG, RAB5A, RAF1, RARB, SNORA62, RPL15, RPL32, SATB1, SCN5A, SCN10A, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, STAC, SYN2, TGFBR2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, UBP1, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, RPL14, LRRFIP2, SLC22A14, SLC22A13, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, EPM2AIP1, TRANK1, SRGAP3, IQSEC1, DLEC1, EXOG, XYLB, OXSR1, NR1D2, PDCD6IP, ARPC4, CTDSPL, EIF1B, TADA3, CRTAP, ATG7, CHL1, ARPP21, SCN11A, CAND2, CLASP2, GPD1L, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, FBXL2, CNOT10, THUMPD3, MYRIP, SUSD5, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, VILL, SSUH2, TRNT1, DYNC1LI1, CRBN, CCDC174, GHRL, CMTM6, SLC25A38, ULK4, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, WDR48, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CSRNP1, GORASP1, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, DCLK3, OXNAD1, CMTM7, OSBPL10, FANCD2OS, LRRC3B, GALNT15, KCNH8, TRIM71, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, ZCWPW2, CMC1, NEK10, CMTM8, FGD5, LOC152274, CNTN4, XIRP1, TTC21A, STT3B, ZNF620, ENTPD3-AS1, ZNF619, ZNF621, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, C3orf35, GADL1, ZNF860, COL6A4P1, TPRXL, LHFPL4, LOC401052, MIR128-2, MIR26A1, THUMPD3-AS1, EIF1B-AS1, EMC3-AS1, SNORA6, SNORA7A, TMPPE, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, ACVR2B-AS1, MKRN2OS, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR466, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, OSBPL10-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-AS1, LINC00690, LOC100996624, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, LOC101927416, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, LOC101928135, ITGA9-AS1, MIR548AY, MIR6822, GRM7-AS2, LOC105376955, LOC105376975, LOC105376997, SNORA93
See casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
64.
GRCh37:
Chr3:73914-30105699
GRCh38:
Chr3:32241-30064208
ATP2B2, BTD, CAV3, DAZL, FANCD2, FBLN2, GRM7, HRH1, IL5RA, IRAK2, ITPR1, OGG1, OXTR, PPARG, RAB5A, RAF1, RARB, RPL15, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, SYN2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, SRGAP3, IQSEC1, NR1D2, ARPC4, TADA3, ATG7, CHL1, CAND2, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, THUMPD3, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, SSUH2, TRNT1, CRBN, CCDC174, GHRL, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, OXNAD1, FANCD2OS, LRRC3B, GALNT15, KCNH8, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, ZCWPW2, CMC1, NEK10, FGD5, LOC152274, CNTN4, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, COL6A4P1, TPRXL, LHFPL4, LOC401052, THUMPD3-AS1, EMC3-AS1, SNORA7A, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-AS1, LINC00690, LOC100996624, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, LOC101927416, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, GRM7-AS2, LOC105376955, LOC105376975, LOC105376997, SNORA93
See casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
65.
GRCh37:
Chr3:73914-20375879
GRCh38:
Chr3:32241-20334387
See casesPathogenic
(Nov 11, 2011)
no assertion criteria provided
66.
GRCh37:
Chr3:14174357
GRCh38:
Chr3:14132857
TMEM43not specifiedBenign
(Mar 22, 2014)
criteria provided, single submitter
67.
GRCh37:
Chr3:14173190
GRCh38:
Chr3:14131690
TMEM43not specifiedGMAF:0.00120(A)Benign
(Mar 13, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr3:14176748
GRCh38:
Chr3:14135248
TMEM43not specifiedGMAF:0.00100(G)Benign
(Apr 27, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr3:14177379
GRCh38:
Chr3:14135879
TMEM43not providedGMAF:0.00020(A)Uncertain significance
(Oct 23, 2013)
criteria provided, single submitter
70.
GRCh37:
Chr3:14172328
GRCh38:
Chr3:14130828
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not providedGO-ESP:0.00008(A)Conflicting interpretations of pathogenicity
(Nov 23, 2015)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr3:14095269-15053193
GRCh38:
Chr3:14053769-15011686
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
72.
GRCh37:
Chr3:11504802-38961034
GRCh38:
Chr3:11463328-38919543
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
73.
GRCh37:
Chr3:105526-19552092
GRCh38:
Chr3:63843-19510600
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
74.
GRCh37:
Chr3:93949-29290273
GRCh38:
Chr3:52266-29248782
ATP2B2, BTD, CAV3, DAZL, FANCD2, FBLN2, GRM7, HRH1, IL5RA, IRAK2, ITPR1, OGG1, OXTR, PPARG, RAB5A, RAF1, RARB, RPL15, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, SYN2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, SRGAP3, IQSEC1, NR1D2, ARPC4, TADA3, ATG7, CHL1, CAND2, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, THUMPD3, HACL1, TTLL3, CNTN6, LSM3, NKIRAS1, LINC00312, LMCD1, SSUH2, TRNT1, CRBN, CCDC174, GHRL, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, OXNAD1, FANCD2OS, LRRC3B, GALNT15, KCNH8, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, ZCWPW2, CMC1, NEK10, FGD5, LOC152274, CNTN4, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, COL6A4P1, TPRXL, LHFPL4, LOC401052, THUMPD3-AS1, EMC3-AS1, SNORA7A, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-AS1, LINC00690, LOC100996624, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, LOC101927416, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, GRM7-AS2, LOC105376955, LOC105376975, LOC105376997, SNORA93
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
75.
GRCh37:
Chr3:93749-20321619
GRCh38:
Chr3:52066-20280127
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
76.
GRCh37:
Chr3:93949-37189567
GRCh38:
Chr3:52266-37148076
ATP2B2, BTD, CAV3, CCR4, DAZL, FANCD2, FBLN2, GLB1, GRM7, HRH1, IL5RA, IRAK2, ITPR1, MLH1, OGG1, OXTR, PPARG, RAB5A, RAF1, RARB, RPL15, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, STAC, SYN2, TGFBR2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, UBP1, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, LRRFIP2, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, EPM2AIP1, TRANK1, SRGAP3, IQSEC1, NR1D2, PDCD6IP, ARPC4, TADA3, CRTAP, ATG7, CHL1, ARPP21, CAND2, CLASP2, GPD1L, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, FBXL2, CNOT10, THUMPD3, SUSD5, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, SSUH2, TRNT1, DYNC1LI1, CRBN, CCDC174, GHRL, CMTM6, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, DCLK3, OXNAD1, CMTM7, OSBPL10, FANCD2OS, LRRC3B, GALNT15, KCNH8, TRIM71, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, ZCWPW2, CMC1, NEK10, CMTM8, FGD5, LOC152274, CNTN4, STT3B, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, GADL1, ZNF860, COL6A4P1, TPRXL, LHFPL4, LOC401052, MIR128-2, THUMPD3-AS1, EMC3-AS1, SNORA7A, TMPPE, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR466, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, OSBPL10-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-AS1, LINC00690, LOC100996624, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, LOC101927416, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, LOC101928135, MIR548AY, GRM7-AS2, LOC105376955, LOC105376975, LOC105376997, SNORA93
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
77.
GRCh37:
Chr3:14180758
GRCh38:
Chr3:14139258
TMEM43not specifiedUncertain significance
(Dec 20, 2011)
criteria provided, single submitter
78.
GRCh37:
Chr3:14180750
GRCh38:
Chr3:14139250
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedGO-ESP:0.00800(T)
GMAF:0.00420(T)
Benign
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr3:14180744
GRCh38:
Chr3:14139244
TMEM43not specifiedGO-ESP:0.00015(C)Uncertain significance
(Oct 23, 2015)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr3:14180706
GRCh38:
Chr3:14139206
TMEM43not specifiedGO-ESP:0.02130(T)
GMAF:0.02140(T)
Benign
(Aug 15, 2013)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:14170981
GRCh38:
Chr3:14129481
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedGO-ESP:0.00669(T)
GMAF:0.00840(T)
Benign
(Jan 23, 2016)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr3:14176398
GRCh38:
Chr3:14134898
TMEM43not specifiedGO-ESP:0.00069(A)
GMAF:0.00040(A)
Likely benign
(Jun 5, 2015)
criteria provided, single submitter
83.
GRCh37:
Chr3:14176311
GRCh38:
Chr3:14134811
TMEM43not specifiedUncertain significance
(Nov 23, 2011)
criteria provided, single submitter
84.
GRCh37:
Chr3:14175262
GRCh38:
Chr3:14133762
TMEM43not specifiedGO-ESP:0.33277(C)
GMAF:0.46330(C)
Benign
(Aug 15, 2013)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr3:14175246
GRCh38:
Chr3:14133746
TMEM43not specifiedUncertain significance
(Sep 9, 2014)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:14174427
GRCh38:
Chr3:14132927
TMEM43not specifiedGO-ESP:0.28756(T)
GMAF:0.35260(T)
Benign
(Aug 15, 2013)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr3:14174077
GRCh38:
Chr3:14132577
TMEM43not specified, not providedGO-ESP:0.00131(A)
GMAF:0.00080(A)
Conflicting interpretations of pathogenicity
(Oct 6, 2015)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr3:14174066
GRCh38:
Chr3:14132566
TMEM43not specifiedUncertain significance
(Sep 25, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr3:14170950
GRCh38:
Chr3:14129450
TMEM43not specifiedLikely benign
(May 10, 2012)
criteria provided, single submitter
90.
GRCh37:
Chr3:14173178
GRCh38:
Chr3:14131678
TMEM43not specifiedUncertain significance
(Jul 31, 2012)
criteria provided, single submitter
91.
GRCh37:
Chr3:14173143
GRCh38:
Chr3:14131643
TMEM43not specifiedGO-ESP:0.00015(G)Uncertain significance
(Jan 22, 2009)
no assertion criteria provided
92.
GRCh37:
Chr3:14172469
GRCh38:
Chr3:14130969
TMEM43not specifiedLikely benign
(Jul 18, 2012)
criteria provided, single submitter
93.
GRCh37:
Chr3:14172381
GRCh38:
Chr3:14130881
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedGO-ESP:0.00900(T)
GMAF:0.00400(T)
Benign
(Mar 7, 2016)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:14183203
GRCh38:
Chr3:14141703
TMEM43not specified, not providedGMAF:0.00180(C)Conflicting interpretations of pathogenicity
(Oct 21, 2015)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr3:14183197
GRCh38:
Chr3:14141697
TMEM43not specified, not providedGO-ESP:0.00062(T)
GMAF:0.00020(T)
Conflicting interpretations of pathogenicity
(Apr 7, 2016)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr3:14183188
GRCh38:
Chr3:14141688
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedGO-ESP:0.00646(A)
GMAF:0.00560(A)
Benign
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr3:14180802
GRCh38:
Chr3:14139302
TMEM43not specified, not providedGO-ESP:0.00008(T)Conflicting interpretations of pathogenicity
(Jun 17, 2014)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr3:14183303
GRCh38:
Chr3:14141803
TMEM43not specifiedGO-ESP:0.00161(T)
GMAF:0.00280(T)
Benign/Likely benign
(Jan 23, 2014)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr3:14172430
GRCh38:
Chr3:14130930
TMEM43not specified, Emery-Dreifuss muscular dystrophy 7, autosomal dominantGO-ESP:0.00015(G)
GMAF:0.00020(G)
Conflicting interpretations of pathogenicity
(Feb 28, 2015)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr3:14172412
GRCh38:
Chr3:14130912
TMEM43Emery-Dreifuss muscular dystrophy 7, autosomal dominantPathogenic
(Jun 1, 2011)
no assertion criteria provided
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