The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- No ClinVar Id was directly found from the curated document
Variant: NM_001142805.2:c.1269_1279del
CA2582121421
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: b8bbf64c-58d4-4843-9f3e-0e01e3acb175
Approved on: 2024-03-25
Published on: 2024-03-25
HGVS expressions
NM_001142805.2:c.1269_1279del
NC_000023.11:g.153694174_153694184del
CM000685.2:g.153694174_153694184del
NC_000023.10:g.152959629_152959639del
CM000685.1:g.152959629_152959639del
NC_000023.9:g.152612823_152612833del
NG_012016.1:g.10878_10888del
NG_012016.2:g.10878_10888del
ENST00000253122.10:c.1299_1309del
ENST00000253122.9:c.1299_1309del
ENST00000413787.1:c.258-30_258-20del
ENST00000430077.6:c.954_964del
ENST00000442457.1:c.353_363del
ENST00000485324.1:n.1444_1454del
NM_001142805.1:c.1269_1279del
NM_001142806.1:c.954_964del
NM_005629.3:c.1299_1309del
NM_005629.4:c.1299_1309del
Evidence submitted by expert panel
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