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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs)
Likely Pathogenic
creatine transporter deficiency2022-10-08
1.0
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1SLC6A8
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