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ClinVar for Gene (Select 70)

Items: 92

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:35085712
GRCh38:
Chr15:34793511
ACTC1, LOC101928174not providedUncertain significance
(Feb 19, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr15:35083319
GRCh38:
Chr15:34791118
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Jan 23, 2012)
criteria provided, single submitter
3.
GRCh37:
Chr15:35084323
GRCh38:
Chr15:34792122
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Jul 14, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr15:35084725
GRCh38:
Chr15:34792524
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(Dec 9, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr15:35087000
GRCh38:
Chr15:34794799
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(Nov 2, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr15:35082635
GRCh38:
Chr15:34790434
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(Jul 25, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr15:35082749
GRCh38:
Chr15:34790548
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(Sep 4, 2012)
criteria provided, single submitter
8.
GRCh37:
Chr15:35082756
GRCh38:
Chr15:34790555
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Nov 27, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr15:35083337
GRCh38:
Chr15:34791136
ACTC1, LOC101928174CardiomyopathyPathogenic
(Jan 26, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr15:35083353
GRCh38:
Chr15:34791152
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(Oct 8, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr15:35083419
GRCh38:
Chr15:34791218
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(Nov 20, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr15:35083419
GRCh38:
Chr15:34791218
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(Feb 19, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr15:35083493
GRCh38:
Chr15:34791292
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(Feb 20, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr15:35084290
GRCh38:
Chr15:34792089
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Aug 2, 2012)
criteria provided, single submitter
15.
GRCh37:
Chr15:35084330
GRCh38:
Chr15:34792129
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Jul 23, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr15:35084344
GRCh38:
Chr15:34792143
ACTC1, LOC101928174CardiomyopathyPathogenic
(Aug 1, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr15:35084399
GRCh38:
Chr15:34792198
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Mar 15, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr15:35084404
GRCh38:
Chr15:34792203
ACTC1, LOC101928174CardiomyopathyPathogenic
(Sep 12, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr15:35084646
GRCh38:
Chr15:34792445
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Oct 4, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr15:35084662
GRCh38:
Chr15:34792461
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Jul 16, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr15:35084684
GRCh38:
Chr15:34792483
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Oct 25, 2012)
criteria provided, single submitter
22.
GRCh37:
Chr15:35084696
GRCh38:
Chr15:34792495
ACTC1, LOC101928174CardiomyopathyLikely pathogenic
(May 9, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr15:35085739
GRCh38:
Chr15:34793538
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Nov 1, 2012)
criteria provided, single submitter
24.
GRCh37:
Chr15:35086988
GRCh38:
Chr15:34794787
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Mar 12, 2012)
criteria provided, single submitter
25.
GRCh37:
Chr15:35084702
GRCh38:
Chr15:34792501
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Aug 6, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr15:35085623-35085625
GRCh38:
Chr15:34793422-34793424
ACTC1, LOC101928174CardiomyopathyPathogenic
(Jul 26, 2013)
criteria provided, single submitter
27.
GRCh37:
Chr15:35086953-35086954
GRCh38:
Chr15:34794752-34794753
ACTC1, LOC101928174CardiomyopathyUncertain significance
(Mar 31, 2014)
criteria provided, single submitter
28.
ACTC1CardiomyopathyBenign
(Jul 24, 2013)
criteria provided, single submitter
29.
ACTC1CardiomyopathyBenign
(Feb 24, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr15:35086864
GRCh38:
Chr15:34794663
ACTC1, LOC101928174CardiomyopathyBenign
(Dec 27, 2012)
criteria provided, single submitter
31.
GRCh37:
Chr15:35084348
GRCh38:
Chr15:34792147
ACTC1, LOC101928174Primary familial hypertrophic cardiomyopathyUncertain significance
(Oct 6, 2014)
no assertion criteria provided
32.
GRCh37:
Chr15:35084623
GRCh38:
Chr15:34792422
ACTC1, LOC101928174Primary dilated cardiomyopathyUncertain significance
(Jul 16, 2014)
no assertion criteria provided
33.
GRCh37:
Chr15:35085628
GRCh38:
Chr15:34793427
ACTC1, LOC101928174Primary familial hypertrophic cardiomyopathyLikely benign
(Sep 17, 2014)
no assertion criteria provided
34.
GRCh37:
Chr15:35084360
GRCh38:
Chr15:34792159
ACTC1, LOC101928174not specifiedUncertain significance
(Oct 22, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr15:35082708
GRCh38:
Chr15:34790507
ACTC1, LOC101928174not specifiedUncertain significance
(Jul 14, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr15:35084477
GRCh38:
Chr15:34792276
ACTC1, LOC101928174not specifiedUncertain significance
(Aug 11, 2014)
criteria provided, single submitter
37.
GRCh37:
Chr15:35082610
GRCh38:
Chr15:34790409
ACTC1, LOC101928174not specifiedUncertain significance
(Dec 17, 2010)
criteria provided, single submitter
38.
GRCh37:
Chr15:35086934
GRCh38:
Chr15:34794733
ACTC1, LOC101928174not specified, CardiomyopathyUncertain significance
(Sep 27, 2012)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:35083439
GRCh38:
Chr15:34791238
ACTC1, LOC101928174Dilated cardiomyopathy 1R, CardiomyopathyLikely pathogenic
(Sep 22, 2011)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr15:35084306
GRCh38:
Chr15:34792105
ACTC1, LOC101928174not specified, CardiomyopathyConflicting interpretations of pathogenicity
(Nov 7, 2014)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr15:35085517
GRCh38:
Chr15:34793316
ACTC1, LOC101928174not specifiedUncertain significance
(Mar 9, 2009)
no assertion criteria provided
42.
GRCh37:
Chr15:35085735
GRCh38:
Chr15:34793534
ACTC1, LOC101928174not specifiedLikely benign
(Mar 19, 2012)
criteria provided, single submitter
43.
GRCh37:
Chr15:35084343
GRCh38:
Chr15:34792142
ACTC1, LOC101928174not specified, CardiomyopathyConflicting interpretations of pathogenicity
(Aug 8, 2012)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr15:25279016-37496505
GRCh38:
Chr15:25033869-37204304
ACTC1, APBA2, CHRM5, CHRNA7, GABRA5, GABRB3, GABRG3, IPW, MEIS2, TRPM1, OCA2, RYR3, SCG5, TJP1, UBE3A, HERC2, AQR, ARHGAP11A, SLC12A6, FAN1, GOLGA8A, FAM189A1, DKFZP434L187, GREM1, EMC4, KLF13, MTMR10, ZNF770, NOP10, NDNL2, EMC7, AVEN, ATP10A, GJD2, KATNBL1, C15orf41, CHRFAM7A, ARHGAP11B, DPH6, PWAR1, LOC145845, OTUD7A, PGBD4, LPCAT4, NUTM1, LOC283710, SNORD109A, SNORD109B, SNORD115-1, FMN1, PWAR4, MIR211, GOLGA8B, LINC00929, GOLGA8N, LOC645202, GOLGA8J, GOLGA8K, GOLGA8M, SNORD115@, SNORD116@, SNORD116-19, GOLGA8O, GOLGA8H, SNORD116-1, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD115-2, SNORD116-26, SNORD116-27, SNORD115-3, SNORD115-4, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD116-28, SNORD116-29, SNORD115-48, SNORD115-24, SNORD115-27, SNORD115-28, SNORD115-45, SNORD115-47, LOC100128714, LOC100131315, TRE-TTC2-2, MIR1233-1, MIR1233-2, MIR3942, PWAR6, DPH6-AS1, MIR4509-2, MIR4510, MIR4509-3, MIR4715, SNORD116-30, SNORD115-46, LOC100996255, GOLGA8R, LOC101928134, LOC101928174, GABRG3-AS1, MIR8063
See casesPathogenic
(Jan 28, 2013)
no assertion criteria provided
45.
GRCh37:
Chr15:22765628-38837526
GRCh38:
Chr15:23319714-38545325
ACTC1, APBA2, CHRM5, CHRNA7, GABRA5, GABRB3, GABRG3, IPW, MEIS2, TRPM1, NDN, OCA2, RYR3, SCG5, SNRPN, TJP1, UBE3A, MKRN3, PWAR5, HERC2, SNURF, AQR, ARHGAP11A, SLC12A6, RASGRP1, FAN1, GOLGA8A, FAM189A1, NPAP1, DKFZP434L187, GREM1, EMC4, KLF13, MAGEL2, MTMR10, ZNF770, NOP10, NDNL2, EMC7, AVEN, ATP10A, GJD2, KATNBL1, C15orf41, CHRFAM7A, ARHGAP11B, DPH6, SNORD107, PWAR1, LOC145845, TMCO5A, OTUD7A, SPRED1, PGBD4, LPCAT4, NUTM1, GOLGA6L2, LOC283710, FAM98B, SNORD108, SNORD109A, SNORD109B, SNORD115-1, FMN1, SNORD64, PWAR4, PWARSN, MIR211, GOLGA8B, LINC00929, GOLGA8N, LOC645202, GOLGA8J, GOLGA8K, GOLGA8M, SNORD115@, SNORD116@, SNORD116-19, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD115-2, SNORD116-26, SNORD116-27, SNORD115-3, SNORD115-4, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD116-28, SNORD116-29, SNORD115-48, SNORD115-24, SNORD115-27, SNORD115-28, SNORD115-45, SNORD115-47, LOC100128714, LOC100131315, TRE-TTC2-2, MIR1233-1, MIR1233-2, MIR3942, PWAR6, DPH6-AS1, MIR4509-2, MIR4508, MIR4510, MIR4509-3, MIR4715, SNORD116-30, SNORD115-46, LOC100996255, GOLGA8R, LOC101928134, LOC101928174, LOC101928227, PWRN3, GABRG3-AS1, MIR8063
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
46.
GRCh37:
Chr15:22698522-38381783
GRCh38:
Chr15:23319714-38089582
ACTC1, APBA2, CHRM5, CHRNA7, GABRA5, GABRB3, GABRG3, IPW, MEIS2, TRPM1, NDN, OCA2, RYR3, SCG5, SNRPN, TJP1, UBE3A, MKRN3, PWAR5, HERC2, SNURF, AQR, ARHGAP11A, SLC12A6, FAN1, GOLGA8A, FAM189A1, NPAP1, DKFZP434L187, GREM1, EMC4, KLF13, MAGEL2, MTMR10, ZNF770, NOP10, NDNL2, EMC7, AVEN, ATP10A, GJD2, KATNBL1, C15orf41, CHRFAM7A, ARHGAP11B, DPH6, SNORD107, PWAR1, LOC145845, TMCO5A, OTUD7A, PGBD4, LPCAT4, NUTM1, GOLGA6L2, LOC283710, SNORD108, SNORD109A, SNORD109B, SNORD115-1, FMN1, SNORD64, PWAR4, PWARSN, MIR211, GOLGA8B, LINC00929, GOLGA8N, LOC645202, GOLGA8J, GOLGA8K, GOLGA8M, SNORD115@, SNORD116@, SNORD116-19, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD115-2, SNORD116-26, SNORD116-27, SNORD115-3, SNORD115-4, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD116-28, SNORD116-29, SNORD115-48, SNORD115-24, SNORD115-27, SNORD115-28, SNORD115-45, SNORD115-47, LOC100128714, LOC100131315, TRE-TTC2-2, MIR1233-1, MIR1233-2, MIR3942, PWAR6, DPH6-AS1, MIR4509-2, MIR4508, MIR4510, MIR4509-3, MIR4715, SNORD116-30, SNORD115-46, LOC100996255, GOLGA8R, LOC101928134, LOC101928174, LOC101928227, PWRN3, GABRG3-AS1, MIR8063
See casesPathogenic
(Nov 30, 2009)
no assertion criteria provided
47.
GRCh37:
Chr15:35083508
GRCh38:
Chr15:34791307
ACTC1, LOC101928174CardiomyopathyBenign
(Aug 29, 2013)
criteria provided, single submitter
48.
GRCh37:
Chr15:35085630
GRCh38:
Chr15:34793429
ACTC1, LOC101928174CardiomyopathyBenign
(Mar 16, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr15:34880216-39572605
GRCh38:
Chr15:34588015-39280404
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
50.
GRCh37:
Chr15:32928004-40526026
GRCh38:
Chr15:32635803-40233825
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
51.
GRCh37:
Chr15:32618337-39686269
GRCh38:
Chr15:32326136-39394068
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
52.
GRCh37:
Chr15:32899499-35492630
GRCh38:
Chr15:32607298-35200429
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
53.
GRCh37:
Chr15:35086927
GRCh38:
Chr15:34794726
ACTC1, LOC101928174not specifiedUncertain significance
(Nov 23, 2012)
criteria provided, single submitter
54.
GRCh37:
Chr15:35086982
GRCh38:
Chr15:34794781
ACTC1, LOC101928174not specified, CardiomyopathyUncertain significance
(Mar 26, 2013)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr15:35083378
GRCh38:
Chr15:34791177
ACTC1, LOC101928174not specifiedGO-ESP:0.02593(G)
GMAF:0.02860(G)
Benign
(Jun 9, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr15:35083387
GRCh38:
Chr15:34791186
ACTC1, LOC101928174not specifiedLikely benign
(Oct 7, 2008)
criteria provided, single submitter
57.
GRCh37:
Chr15:35083402
GRCh38:
Chr15:34791201
ACTC1, LOC101928174not specifiedGO-ESP:0.00008(C)Likely benign
(Mar 1, 2008)
criteria provided, single submitter
58.
GRCh37:
Chr15:35083455
GRCh38:
Chr15:34791254
ACTC1, LOC101928174not specifiedUncertain significance
(May 15, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr15:35084293
GRCh38:
Chr15:34792092
ACTC1, LOC101928174not specified, CardiomyopathyConflicting interpretations of pathogenicity
(Feb 11, 2014)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr15:35084288
GRCh38:
Chr15:34792087
ACTC1, LOC101928174not specifiedUncertain significance
(Jan 27, 2011)
criteria provided, single submitter
61.
GRCh37:
Chr15:35087003
GRCh38:
Chr15:34794802
ACTC1, LOC101928174not specifiedUncertain significance
(Apr 18, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr15:35084301
GRCh38:
Chr15:34792100
ACTC1, LOC101928174not specifiedLikely benign
(Mar 1, 2008)
criteria provided, single submitter
63.
GRCh37:
Chr15:35084464
GRCh38:
Chr15:34792263
ACTC1, LOC101928174not specifiedUncertain significance
(Aug 13, 2010)
criteria provided, single submitter
64.
GRCh37:
Chr15:35084601
GRCh38:
Chr15:34792400
ACTC1, LOC101928174not specifiedLikely benign
(Sep 17, 2010)
criteria provided, single submitter
65.
GRCh37:
Chr15:35084608
GRCh38:
Chr15:34792407
ACTC1, LOC101928174not specifiedUncertain significance
(Nov 3, 2010)
criteria provided, single submitter
66.
GRCh37:
Chr15:35084672
GRCh38:
Chr15:34792471
ACTC1, LOC101928174Dilated cardiomyopathy 1RLikely pathogenic
(May 20, 2010)
criteria provided, single submitter
67.
GRCh37:
Chr15:35084709
GRCh38:
Chr15:34792508
ACTC1, LOC101928174not specifiedLikely benign
(Apr 16, 2010)
criteria provided, single submitter
68.
GRCh37:
Chr15:35084712
GRCh38:
Chr15:34792511
ACTC1, LOC101928174not specified, CardiomyopathyGO-ESP:0.00062(A)Benign/Likely benign
(Aug 22, 2013)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:35084750
GRCh38:
Chr15:34792549
ACTC1, LOC101928174not specified, CardiomyopathyConflicting interpretations of pathogenicity
(Jul 9, 2014)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr15:35084760
GRCh38:
Chr15:34792559
ACTC1, LOC101928174not specifiedLikely benign
(Sep 2, 2010)
criteria provided, single submitter
71.
GRCh37:
Chr15:35085437
GRCh38:
Chr15:34793236
ACTC1, LOC101928174not specifiedGO-ESP:0.00231(T)
GMAF:0.00400(T)
Benign
(Mar 1, 2012)
criteria provided, single submitter
72.
GRCh37:
Chr15:35085528
GRCh38:
Chr15:34793327
ACTC1, LOC101928174not specifiedUncertain significance
(Jan 22, 2013)
criteria provided, single submitter
73.
GRCh37:
Chr15:35085545
GRCh38:
Chr15:34793344
ACTC1, LOC101928174not specifiedUncertain significance
(Mar 1, 2008)
no assertion criteria provided
74.
GRCh37:
Chr15:35085590
GRCh38:
Chr15:34793389
ACTC1, LOC101928174not specifiedUncertain significance
(Mar 1, 2008)
no assertion criteria provided
75.
GRCh37:
Chr15:35085606
GRCh38:
Chr15:34793405
ACTC1, LOC101928174not specifiedLikely benign
(Sep 18, 2009)
criteria provided, single submitter
76.
GRCh37:
Chr15:35085671
GRCh38:
Chr15:34793470
ACTC1, LOC101928174not specifiedUncertain significance
(Dec 27, 2011)
criteria provided, single submitter
77.
GRCh37:
Chr15:35085681
GRCh38:
Chr15:34793480
ACTC1, LOC101928174not specifiedGO-ESP:0.00008(A)
GMAF:0.00020(A)
Likely benign
(Jun 3, 2009)
criteria provided, single submitter
78.
GRCh37:
Chr15:35082655
GRCh38:
Chr15:34790454
ACTC1, LOC101928174not specifiedGO-ESP:0.00008(A)Likely benign
(Mar 1, 2008)
criteria provided, single submitter
79.
GRCh37:
Chr15:35082694
GRCh38:
Chr15:34790493
ACTC1, LOC101928174not specifiedGMAF:0.00020(G)Likely benign
(Apr 30, 2009)
criteria provided, single submitter
80.
GRCh37:
Chr15:35087046
GRCh38:
Chr15:34794845
ACTC1, LOC101928174not specified, CardiomyopathyGO-ESP:0.00038(C)
GMAF:0.00020(C)
Benign/Likely benign
(Sep 22, 2014)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr15:35086943
GRCh38:
Chr15:34794742
ACTC1, LOC101928174Primary familial hypertrophic cardiomyopathyLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
82.
GRCh37:
Chr15:35086858
GRCh38:
Chr15:34794657
ACTC1, LOC101928174Primary familial hypertrophic cardiomyopathyGMAF:0.02980(GGGGG)Uncertain significance
(Aug 18, 2011)
criteria provided, single submitter
83.
GRCh37:
Chr15:35086861-35086862
GRCh38:
Chr15:34794660-34794661
ACTC1, LOC101928174Primary familial hypertrophic cardiomyopathyUncertain significance
(Aug 18, 2011)
criteria provided, single submitter
84.
GRCh37:
Chr15:35085599
GRCh38:
Chr15:34793398
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11, Primary familial hypertrophic cardiomyopathy, Left ventricular noncompaction 4,
Cardiomyopathy
Pathogenic
(Jul 28, 2014)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr15:35084729
GRCh38:
Chr15:34792528
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11Pathogenic
(Jun 7, 2010)
no assertion criteria provided
86.
GRCh37:
Chr15:35082750
GRCh38:
Chr15:34790549
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11Pathogenic
(Jun 7, 2010)
no assertion criteria provided
87.
GRCh37:
Chr15:35085670-35085686
GRCh38:
Chr15:34793469-34793485
ACTC1, LOC101928174Atrial septal defect 5Pathogenic
(Jun 7, 2010)
no assertion criteria provided
88.
GRCh37:
Chr15:35085527
GRCh38:
Chr15:34793326
ACTC1, LOC101928174Atrial septal defect 5Pathogenic
(Jun 7, 2010)
no assertion criteria provided
89.
GRCh37:
Chr15:35085632
GRCh38:
Chr15:34793431
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11, not specified, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 6, 2014)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr15:35083416
GRCh38:
Chr15:34791215
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11, CardiomyopathyPathogenic
(Aug 20, 2013)
criteria provided, single submitter
91.
GRCh37:
Chr15:35082659
GRCh38:
Chr15:34790458
ACTC1, LOC101928174Dilated cardiomyopathy 1RPathogenic
(Jun 7, 2010)
no assertion criteria provided
92.
GRCh37:
Chr15:35083364
GRCh38:
Chr15:34791163
ACTC1, LOC101928174Dilated cardiomyopathy 1RPathogenic
(Jun 7, 2010)
no assertion criteria provided
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