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Items: 11

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:77566090
GRCh38:
Chr13:76991955
CLN5not specified, Neuronal Ceroid-Lipofuscinosis, Dominant/RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr13:77566158
GRCh38:
Chr13:76992023
CLN5not specified, Neuronal Ceroid-Lipofuscinosis, Dominant/RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr13:77566320
GRCh38:
Chr13:76992185
CLN5Neuronal ceroid lipofuscinosis, not specified, Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Benign/Likely benign
(Aug 16, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr13:77566414
GRCh38:
Chr13:76992279
CLN5not specified, Neuronal Ceroid-Lipofuscinosis, Dominant/RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr13:77570078
GRCh38:
Chr13:76995943
CLN5, FBXL3Neuronal ceroid lipofuscinosis, not specified, Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Benign/Likely benign
(Aug 14, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr13:77570163
GRCh38:
Chr13:76996028
CLN5, FBXL3Ceroid lipofuscinosis neuronal 5Likely pathogenic
(Aug 10, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr13:77570207-77570211
GRCh38:
Chr13:76996072-76996076
CLN5, FBXL3Ceroid lipofuscinosis neuronal 5Pathogenic
(Jan 6, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr13:77570222
GRCh38:
Chr13:76996087
CLN5, FBXL3Ceroid lipofuscinosis neuronal 5Pathogenic/Likely pathogenic
(Nov 20, 2014)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr13:77574983
GRCh38:
Chr13:77000848
CLN5, FBXL3Ceroid lipofuscinosis neuronal 5, not specified, Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr13:77575068
GRCh38:
Chr13:77000933
CLN5, FBXL3Neuronal ceroid lipofuscinosis, not specified, Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Benign/Likely benign
(Jul 19, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr13:77575072
GRCh38:
Chr13:77000937
CLN5, FBXL3Neuronal ceroid lipofuscinosis, not specified, not provided,
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Uncertain significance
(Oct 19, 2017)
criteria provided, multiple submitters, no conflicts
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