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Items: 80

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:32073462
GRCh38:
Chr18:34493498
DTNAnot specifiedLikely benign
(Feb 12, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr18:32073490
GRCh38:
Chr18:34493526
DTNAnot specifiedLikely benign
(Dec 3, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr18:32259537
GRCh38:
Chr18:34679573
DTNAnot specifiedLikely benign
(Jul 6, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr18:32290370
GRCh38:
Chr18:34710406
DTNAnot specifiedBenign
(Apr 17, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr18:32290415
GRCh38:
Chr18:34710451
DTNAnot specifiedLikely benign
(Sep 2, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr18:32335915
GRCh38:
Chr18:34755951
DTNAnot specifiedBenign
(Jan 8, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr18:32335991
GRCh38:
Chr18:34756027
DTNALeft ventricular noncompaction 1, not specifiedLikely benign
(Mar 9, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr18:32374034
GRCh38:
Chr18:34794070
DTNAnot specifiedUncertain significance
(Jul 11, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr18:32374062
GRCh38:
Chr18:34794098
DTNALeft ventricular noncompaction 1, Cardiomyopathy, not specified,
Left ventricular noncompaction cardiomyopathy
Benign/Likely benign
(Jul 10, 2017)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr18:32374083
GRCh38:
Chr18:34794119
DTNALeft ventricular noncompaction 1, not specifiedBenign
(May 7, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr18:32374095
GRCh38:
Chr18:34794131
DTNALeft ventricular noncompaction 1, not specified, Left ventricular noncompaction cardiomyopathy
Benign/Likely benign
(Jul 22, 2017)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr18:32374183
GRCh38:
Chr18:34794219
DTNAnot specifiedUncertain significance
(Aug 8, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr18:32386191
GRCh38:
Chr18:34806227
DTNALeft ventricular noncompaction 1, not specifiedUncertain significance
(Oct 30, 2017)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr18:32386243
GRCh38:
Chr18:34806279
DTNAnot specifiedLikely benign
(Sep 2, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr18:32386285
GRCh38:
Chr18:34806321
DTNAnot specifiedLikely benign
(Jun 30, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr18:32391911
GRCh38:
Chr18:34811947
DTNAnot specifiedLikely benign
(Nov 17, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr18:32391950
GRCh38:
Chr18:34811986
DTNAnot specified, Left ventricular noncompaction cardiomyopathyConflicting interpretations of pathogenicity
(Jun 19, 2017)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr18:32392011
GRCh38:
Chr18:34812047
DTNAnot specifiedLikely benign
(Jun 16, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr18:32392011
GRCh38:
Chr18:34812047
DTNALeft ventricular noncompaction 1, not specifiedBenign
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr18:32395883
GRCh38:
Chr18:34815919
DTNAnot specified, Left ventricular noncompaction cardiomyopathyUncertain significance
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr18:32395915
GRCh38:
Chr18:34815951
DTNAnot specifiedUncertain significance
(Oct 2, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr18:32395926
GRCh38:
Chr18:34815962
DTNAnot specifiedLikely benign
(Oct 23, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr18:32395944
GRCh38:
Chr18:34815980
DTNAnot specifiedLikely benign
(May 20, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr18:32398202
GRCh38:
Chr18:34818238
DTNAnot specifiedUncertain significance
(Apr 7, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr18:32398287
GRCh38:
Chr18:34818323
DTNAnot specifiedUncertain significance
(Apr 5, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr18:32400747
GRCh38:
Chr18:34820783
DTNAnot specifiedLikely benign
(Apr 7, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr18:32400811
GRCh38:
Chr18:34820847
DTNALeft ventricular noncompaction 1, not specifiedBenign
(Jun 27, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr18:32400822
GRCh38:
Chr18:34820858
DTNAnot specifiedUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr18:32400877
GRCh38:
Chr18:34820913
DTNALeft ventricular noncompaction 1, not specifiedBenign
(Jun 27, 2017)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr18:32407551
GRCh38:
Chr18:34827587
DTNALeft ventricular noncompaction 1, not specifiedBenign/Likely benign
(Jul 6, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr18:32407585
GRCh38:
Chr18:34827621
DTNAnot specifiedUncertain significance
(Jun 9, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr18:32409043
GRCh38:
Chr18:34829079
DTNAnot specifiedConflicting interpretations of pathogenicity
(Jun 13, 2016)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr18:32409366
GRCh38:
Chr18:34829402
DTNAnot specifiedUncertain significance
(May 26, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr18:32409427
GRCh38:
Chr18:34829463
DTNAnot specifiedLikely benign
(Oct 29, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr18:32418050
GRCh38:
Chr18:34838086
DTNALeft ventricular noncompaction 1, not specified, Left ventricular noncompaction cardiomyopathy
Benign/Likely benign
(Jul 25, 2017)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr18:32418697
GRCh38:
Chr18:34838733
DTNAnot specifiedLikely benign
(Nov 1, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr18:32418752
GRCh38:
Chr18:34838788
DTNALeft ventricular noncompaction 1, not specified, not provided,
Left ventricular noncompaction cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 3, 2017)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr18:32418763
GRCh38:
Chr18:34838799
DTNAnot specifiedLikely benign
(Feb 10, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr18:32418780
GRCh38:
Chr18:34838816
DTNAnot specifiedUncertain significance
(Dec 29, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr18:32418785
GRCh38:
Chr18:34838821
DTNAPrimary dilated cardiomyopathy, not specified, Left ventricular noncompaction cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 3, 2017)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr18:32428317
GRCh38:
Chr18:34848353
DTNALeft ventricular noncompaction 1, not specifiedLikely benign
(May 8, 2017)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr18:32428339
GRCh38:
Chr18:34848375
DTNAnot specifiedUncertain significance
(Nov 17, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr18:32431776
GRCh38:
Chr18:34851812
DTNAnot specifiedBenign
(Jun 24, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr18:32431798
GRCh38:
Chr18:34851834
DTNALeft ventricular noncompaction 1, not specifiedBenign
(Jul 26, 2017)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr18:32431814
GRCh38:
Chr18:34851850
DTNALeft ventricular noncompaction 1, not specifiedBenign/Likely benign
(Jun 13, 2017)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr18:32431840
GRCh38:
Chr18:34851876
DTNALeft ventricular noncompaction 1, not specified, not provided
Conflicting interpretations of pathogenicity
(Jun 10, 2017)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr18:32431845
GRCh38:
Chr18:34851881
DTNALeft ventricular noncompaction 1, not specifiedLikely benign
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr18:32431910
GRCh38:
Chr18:34851946
DTNAnot specifiedBenign
(Jan 23, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr18:32438261
GRCh38:
Chr18:34858297
DTNAnot specifiedLikely benign
(Dec 1, 2015)
criteria provided, single submitter
50.
GRCh37:
Chr18:32438329
GRCh38:
Chr18:34858365
DTNAnot specifiedUncertain significance
(Apr 13, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr18:32443935
GRCh38:
Chr18:34863971
DTNAnot specified, not providedUncertain significance
(Sep 25, 2017)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr18:32444040
GRCh38:
Chr18:34864076
DTNAnot specified, Left ventricular noncompaction cardiomyopathyBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr18:32446119
GRCh38:
Chr18:34866155
DTNAnot specifiedLikely benign
(Jul 6, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr18:32455193
GRCh38:
Chr18:34875229
DTNAnot specifiedBenign/Likely benign
(Jul 21, 2015)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr18:32455193
GRCh38:
Chr18:34875229
DTNAnot specifiedBenign/Likely benign
(Mar 20, 2015)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr18:32455217
GRCh38:
Chr18:34875253
DTNAnot specifiedLikely benign
(Feb 16, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr18:32455223
GRCh38:
Chr18:34875259
DTNAnot specifiedLikely benign
(Nov 3, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr18:32455280
GRCh38:
Chr18:34875316
DTNAnot specifiedBenign
(Jun 3, 2014)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr18:32455370
GRCh38:
Chr18:34875406
DTNACardiomyopathy, not specifiedBenign
(Sep 2, 2014)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr18:32455379
GRCh38:
Chr18:34875415
DTNAnot specifiedBenign
(Jan 8, 2014)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr18:32457744
GRCh38:
Chr18:34877780
DTNAPrimary familial hypertrophic cardiomyopathy, not specifiedUncertain significance
(Nov 17, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr18:32457779
GRCh38:
Chr18:34877815
DTNAnot specifiedBenign
(Mar 14, 2014)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr18:32459622
GRCh38:
Chr18:34879658
DTNAnot specifiedUncertain significance
(May 28, 2014)
criteria provided, single submitter
64.
GRCh37:
Chr18:32459674
GRCh38:
Chr18:34879710
DTNAnot specifiedLikely benign
(Dec 16, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr18:32459678
GRCh38:
Chr18:34879714
DTNAnot specifiedLikely benign
(Apr 26, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr18:32459697
GRCh38:
Chr18:34879733
DTNACardiomyopathy, not specifiedBenign
(Jun 4, 2015)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr18:32462093
GRCh38:
Chr18:34882129
DTNAnot specifiedLikely benign
(Dec 27, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr18:32462097
GRCh38:
Chr18:34882133
DTNAnot specifiedUncertain significance
(Apr 18, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr18:32462098
GRCh38:
Chr18:34882134
DTNAnot specifiedUncertain significance
(Feb 27, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr18:32464705
GRCh38:
Chr18:34884741
DTNAnot specifiedUncertain significance
(Nov 23, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr18:32470277
GRCh38:
Chr18:34890313
DTNAnot specifiedUncertain significance
(Apr 30, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr18:32470291
GRCh38:
Chr18:34890327
DTNAnot specifiedBenign
(Nov 22, 2013)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr18:32470298
GRCh38:
Chr18:34890334
DTNAnot specifiedLikely benign
(May 9, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr18:32470325
GRCh38:
Chr18:34890361
DTNAnot specifiedLikely benign
(Apr 14, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr18:32470344
GRCh38:
Chr18:34890380
DTNAnot specifiedLikely benign
(Sep 8, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr18:32470388
GRCh38:
Chr18:34890424
DTNAnot specifiedUncertain significance
(Sep 19, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr18:18548019-77954165
AQP4, ATP5F1A, BCL2, CDH2, CDH7, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC4R, ME2, MEP1B, MYO5B, NARS, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TTR, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, CTDP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, CTIF, TSHZ1, ACAA2, CD226, MALT1, TXNL4A, MAPRE2, POLI, ADNP2, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, KIAA1468, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, RBFA, GREB1L, PQLC1, FHOD3, CCDC68, ASXL3, NETO1, KATNAL2, CHST9, C18orf21, MRO, HDHD2, ZNF397, PARD6G, CNDP1, TMEM241, SERPINB12, SERPINB11, SEC11C, CABLES1, DSEL, ESCO1, OSBPL1A, HAUS1, ALPK2, LOXHD1, INO80C, TTC39C, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, C18orf54, ELOA3, ABHD3, FBXO15, ZBTB7C, SKA1, CFAP53, DOK6, RNF152, ZNF396, KCTD1, DYNAP, BOD1L2, SIGLEC15, ZADH2, SMIM21, HMSD, CPLX4, CCDC178, ATP9B, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, C18orf32, C18orf63, SKOR2, ELOA3B, ZSCAN30, LINC01415, ELOA3D, RPL17-C18orf32, LINC-ROR
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr18:163323-78005236
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, APCDD1, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, ZBTB7C, SKA1, CFAP53, DOK6, RNF152, ZNF396, LAMA1, KCTD1, DYNAP, BOD1L2, SIGLEC15, ZADH2, SMIM21, HMSD, LRRC30, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf32, AKAIN1, C18orf63, TMEM200C, SLC35G4, SKOR2, ELOA3B, ZSCAN30, LINC01415, ELOA3D, RPL17-C18orf32, LINC-ROR
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr18:31627082-38974318
GRCh38:
Chr18:34047118-41394354
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
80.
GRCh37:
Chr18:29691493-41650184
GRCh38:
Chr18:32111530-44070219
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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