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Items: 10

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:5021220
GRCh38:
Chr12:4912054
KCNA1Episodic ataxia type 1Pathogenic
(Aug 16, 2012)
no assertion criteria provided
2.
GRCh37:
Chr12:5021221
GRCh38:
Chr12:4912055
KCNA1Episodic ataxia type 1Pathogenic
(Aug 16, 2012)
no assertion criteria provided
3.
GRCh37:
Chr12:5021221
GRCh38:
Chr12:4912055
KCNA1Episodic ataxia type 1Pathogenic
(Aug 16, 2012)
no assertion criteria provided
4.
GRCh37:
Chr12:5021228
GRCh38:
Chr12:4912062
KCNA1Episodic ataxia type 1, Episodic ataxia, not specified,
Myokymia
Benign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr12:5021292-5021294
GRCh38:
Chr12:4912126-4912128
KCNA1Episodic ataxia type 1Pathogenic
(Aug 16, 2012)
no assertion criteria provided
6.
GRCh37:
Chr12:5021348
GRCh38:
Chr12:4912182
KCNA1Episodic ataxia type 1, Episodic ataxia, not specified,
Myokymia
Benign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr12:5021766
GRCh38:
Chr12:4912600
KCNA1Episodic ataxia type 1Pathogenic
(Aug 16, 2012)
no assertion criteria provided
8.
GRCh37:
Chr12:5021767
GRCh38:
Chr12:4912601
KCNA1Episodic ataxia type 1Pathogenic
(Jun 25, 2015)
no assertion criteria provided
9.
GRCh37:
Chr12:5021785
GRCh38:
Chr12:4912619
KCNA1Episodic ataxia type 1Pathogenic
(Aug 16, 2012)
no assertion criteria provided
10.
GRCh37:
Chr12:5021793
GRCh38:
Chr12:4912627
KCNA1Episodic ataxia type 1Pathogenic
(Aug 16, 2012)
no assertion criteria provided
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