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Items: 3

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr21:45196108
GRCh38:
Chr21:43776227
CSTBE15*not providedLikely pathogenic
(Aug 1, 2019)
criteria provided, single submitterVCV000809294
2.
GRCh37:
Chr21:45196138
GRCh38:
Chr21:43776257
CSTBA5fsnot providedLikely pathogenic
(Oct 31, 2017)
criteria provided, single submitterVCV000493324
3.
CSTBUnverricht-Lundborg syndromePathogenic
(Feb 1, 2005)
no assertion criteria providedVCV000008399
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