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Items: 29

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:26136244
GRCh38:
Chr1:25809753
SEPN1Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion, not provided
GO-ESP:0.00047(A)Pathogenic
(Mar 4, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr1:154140414
GRCh38:
Chr1:154167938
TPM3Nemaline myopathy 1, not providedPathogenic
(Apr 11, 2013)
no assertion criteria provided
3.
GRCh37:
Chr1:154142918
GRCh38:
Chr1:154170442
TPM3Congenital myopathy with fiber type disproportion, not providedPathogenic
(Apr 11, 2013)
no assertion criteria provided
4.
GRCh37:
Chr1:154142930
GRCh38:
Chr1:154170454
TPM3Congenital myopathy with fiber type disproportion, not providedPathogenic
(Apr 11, 2013)
no assertion criteria provided
5.
GRCh37:
Chr1:154145445
GRCh38:
Chr1:154172969
TPM3Congenital myopathy with fiber type disproportion, not providedPathogenic
(Apr 11, 2013)
no assertion criteria provided
6.
GRCh37:
Chr1:154145447
GRCh38:
Chr1:154172971
TPM3Nemaline myopathy 1, Congenital myopathy with fiber type disproportion, not provided,
Cap myopathy 1
Pathogenic
(Apr 11, 2013)
no assertion criteria provided
7.
GRCh37:
Chr1:154145448
GRCh38:
Chr1:154172972
TPM3Congenital myopathy with fiber type disproportion, not provided, Cap myopathy 1
Pathogenic
(Dec 1, 2013)
no assertion criteria provided
8.
GRCh37:
Chr1:154145448
GRCh38:
Chr1:154172972
TPM3Nemaline myopathy 1, Congenital myopathy with fiber type disproportion, not provided
Pathogenic/Likely pathogenic, not provided
(Dec 1, 2015)
no assertion criteria provided
9.
GRCh37:
Chr1:154148670
GRCh38:
Chr1:154176194
TPM3Congenital myopathy with fiber type disproportion, not providedPathogenic
(Apr 11, 2013)
no assertion criteria provided
10.
GRCh37:
Chr1:154148696
GRCh38:
Chr1:154176220
TPM3Congenital myopathy with fiber type disproportion, not providedPathogenic
(Apr 11, 2013)
no assertion criteria provided
11.
GRCh37:
Chr1:154164484
GRCh38:
Chr1:154192008
TPM3Congenital myopathy with fiber type disproportion, not providedPathogenic
(Apr 11, 2013)
no assertion criteria provided
12.
GRCh37:
Chr1:229567380
GRCh38:
Chr1:229431633
ACTA1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
13.
GRCh37:
Chr1:229567577
GRCh38:
Chr1:229431830
ACTA1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
14.
GRCh37:
Chr1:229567822
GRCh38:
Chr1:229432075
ACTA1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
15.
GRCh37:
Chr1:229567881
GRCh38:
Chr1:229432134
ACTA1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
16.
GRCh37:
Chr1:229567928
GRCh38:
Chr1:229432181
ACTA1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
17.
GRCh37:
Chr1:229568614
GRCh38:
Chr1:229432867
ACTA1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
18.
GRCh37:
Chr1:229568847
GRCh38:
Chr1:229433100
ACTA1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
19.
GRCh37:
Chr9:35685669
GRCh38:
Chr9:35685672
TPM2Nemaline myopathy 4, not providedPathogenic
(Apr 11, 2013)
no assertion criteria provided
20.
GRCh37:
Chr14:23882064
GRCh38:
Chr14:23412855
MYH7Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
21.
GRCh37:
Chr14:23884685-23884687
GRCh38:
Chr14:23415476-23415478
MYH7, MHRTCongenital myopathy with fiber type disproportion, Myopathy, distal, 1, Laing distal myopathy
Pathogenic
(Mar 12, 2015)
no assertion criteria provided
22.
GRCh37:
Chr19:38937346
GRCh38:
Chr19:38446706
RYR1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
23.
GRCh37:
Chr19:38942486
GRCh38:
Chr19:38451846
RYR1Central core disease, Congenital myopathy with fiber type disproportion, not provided
Pathogenic
(Apr 11, 2013)
no assertion criteria provided
24.
GRCh37:
Chr19:38976628
GRCh38:
Chr19:38485988
RYR1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
25.
GRCh37:
Chr19:38981349
GRCh38:
Chr19:38490709
RYR1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
26.
GRCh37:
Chr19:39001206
GRCh38:
Chr19:38510566
RYR1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
27.
GRCh37:
Chr19:39008291
GRCh38:
Chr19:38517651
RYR1Congenital myopathy with fiber type disproportion, not providedPathogenic
(May 21, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr19:39010039
GRCh38:
Chr19:38519399
RYR1Central core disease, Congenital myopathy with fiber type disproportion, not provided
Pathogenic/Likely pathogenic
(Dec 1, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr19:39057593
GRCh38:
Chr19:38566953
RYR1Congenital myopathy with fiber type disproportionPathogenic
(Apr 11, 2013)
no assertion criteria provided
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