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Items: 23

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:134379683
GRCh38:
Chr9:131504296
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.00992(A)
GMAF:0.01140(A)
GO-ESP:0.00316(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr9:134381495-134381496
GRCh38:
Chr9:131506108-131506109
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr9:134381507
GRCh38:
Chr9:131506120
POMT1not specifiedGMAF:0.00020(T)
GO-ESP:0.00024(T)
Conflicting interpretations of pathogenicity
(Mar 9, 2016)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr9:134385435
GRCh38:
Chr9:131510048
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.09734(T)
GMAF:0.07870(T)
GO-ESP:0.10348(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:134386759
GRCh38:
Chr9:131511372
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.00100(A)
GMAF:0.01320(A)
GO-ESP:0.01038(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr9:134386781
GRCh38:
Chr9:131511394
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.03775(A)
GMAF:0.05250(A)
GO-ESP:0.05330(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr9:134386804
GRCh38:
Chr9:131511417
POMT1not specifiedUncertain significance
(Nov 13, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr9:134386863
GRCh38:
Chr9:131511476
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGMAF:0.00020(G)
GO-ESP:0.00082(G)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr9:134388668
GRCh38:
Chr9:131513281
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.01099(T)
GMAF:0.01220(T)
GO-ESP:0.00336(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr9:134390870
GRCh38:
Chr9:131515483
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.03637(A)
GMAF:0.01260(A)
GO-ESP:0.03416(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr9:134393834
GRCh38:
Chr9:131518447
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.02176(G)
GMAF:0.02220(G)
GO-ESP:0.00627(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr9:134394337
GRCh38:
Chr9:131518950
POMT1not specifiedGO-ESP:0.01123(T)
GMAF:0.01220(T)
GO-ESP:0.00361(T)
Benign/Likely benign
(Jul 29, 2014)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr9:134394788
GRCh38:
Chr9:131519401
POMT1not specified, not providedGO-ESP:0.00103(A)
GMAF:0.00120(A)
GO-ESP:0.00125(A)
Conflicting interpretations of pathogenicity
(Aug 19, 2016)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr9:134394834
GRCh38:
Chr9:131519447
POMT1not specified, not providedGMAF:0.00060(G)
GO-ESP:0.00161(G)
Conflicting interpretations of pathogenicity
(Jun 24, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr9:134395574
GRCh38:
Chr9:131520187
POMT1not specifiedGO-ESP:0.02384(A)
GMAF:0.01000(A)
GO-ESP:0.02229(A)
Benign
(Jan 13, 2015)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr9:134397427
GRCh38:
Chr9:131522040
POMT1not specifiedGO-ESP:0.01053(A)
GMAF:0.00280(A)
GO-ESP:0.00699(A)
Benign
(Mar 15, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr9:134397428
GRCh38:
Chr9:131522041
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.01061(A)
GMAF:0.00280(A)
GO-ESP:0.00699(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr9:134397464
GRCh38:
Chr9:131522077
POMT1not specified, Limb-Girdle Muscular Dystrophy, RecessiveGO-ESP:0.01569(T)
GMAF:0.02100(T)
GO-ESP:0.00758(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr9:134398374
GRCh38:
Chr9:131522987
POMT1not specifiedGMAF:0.00020(A)
GO-ESP:0.00010(A)
Uncertain significance
(Jul 8, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr9:134398452
GRCh38:
Chr9:131523065
POMT1not specifiedGO-ESP:0.01007(T)
GMAF:0.00460(T)
GO-ESP:0.00892(T)
Benign/Likely benign
(Mar 12, 2015)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr9:134398482
GRCh38:
Chr9:131523095
POMT1not specifiedGMAF:0.00020(T)
GO-ESP:0.00005(T)
Uncertain significance
(Feb 12, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr9:134398483
GRCh38:
Chr9:131523096
POMT1not specified, not providedGO-ESP:0.00154(A)
GMAF:0.00320(A)
GO-ESP:0.00054(A)
Conflicting interpretations of pathogenicity
(Nov 20, 2014)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr9:134398493
GRCh38:
Chr9:131523106
POMT1not specifiedGMAF:0.00040(A)
GO-ESP:0.00095(A)
Conflicting interpretations of pathogenicity
(Aug 4, 2015)
criteria provided, conflicting interpretations
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