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Links from MedGen

Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:5098255
GRCh38:
Chr20:5117609
PCNAC148SAtaxia-telangiectasia-like disorder 2Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
2.
GRCh37:
Chr20:5096118
GRCh38:
Chr20:5115472
PCNAS228IAtaxia-telangiectasia-like disorder 2Uncertain significance
(Apr 3, 2018)
criteria provided, single submitter