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Items: 7

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:22257752
GRCh38:
Chr11:22236206
ANO5Limb-girdle muscular dystrophy, type 2L, Miyoshi muscular dystrophy 3, not provided,
ANO5-Related Disorders
Pathogenic
(Jun 29, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr11:22272339
GRCh38:
Chr11:22250793
ANO5Gnathodiaphyseal dysplasia, not providedPathogenic
(Nov 29, 2012)
no assertion criteria provided
3.
GRCh37:
Chr11:22272339
GRCh38:
Chr11:22250793
ANO5Gnathodiaphyseal dysplasia, not providedPathogenic
(Nov 29, 2012)
no assertion criteria provided
4.
GRCh37:
Chr11:22277031
GRCh38:
Chr11:22255485
ANO5Limb-girdle muscular dystrophy, type 2L, Miyoshi muscular dystrophy 3, not provided
Pathogenic
(May 19, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr11:22279305
GRCh38:
Chr11:22257759
ANO5Limb-girdle muscular dystrophy, type 2LPathogenic
(Nov 29, 2012)
no assertion criteria provided
6.
GRCh37:
Chr11:22296151
GRCh38:
Chr11:22274605
ANO5Limb-girdle muscular dystrophy, type 2L, Miyoshi muscular dystrophy 3, not provided
Pathogenic
(Jun 17, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:22296190-22296191
GRCh38:
Chr11:22274644-22274645
ANO5Limb-girdle muscular dystrophy, type 2L, not providedPathogenic
(Nov 29, 2012)
no assertion criteria provided
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