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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:40555167
GRCh38:
Chr1:40089495
PPT1Ceroid lipofuscinosis neuronal 1, not provided, Neuronal Ceroid-Lipofuscinosis, Recessive
GO-ESP:0.00031(A)
GO-ESP:0.00017(A)
Pathogenic
(Sep 13, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr1:40557070
GRCh38:
Chr1:40091398
PPT1Ceroid lipofuscinosis neuronal 1, not providedGMAF:0.00060(A)
GO-ESP:0.00068(A)
Pathogenic
(Sep 13, 2016)
criteria provided, single submitter
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