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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Variant: NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del)
CA16042098
371858 (ClinVar)
Gene: APC
Condition: familial adenomatous polyposis 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 9f5fe105-afaf-4f42-b388-af9edfd2a4ee
Approved on: 2023-02-26
Published on: 2023-03-14
HGVS expressions
NM_000038.6:c.6796_6810del
NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del)
NC_000005.10:g.112842390_112842404del
CM000667.2:g.112842390_112842404del
NC_000005.9:g.112178087_112178101del
CM000667.1:g.112178087_112178101del
NC_000005.8:g.112205986_112206000del
NG_008481.4:g.154870_154884del
ENST00000257430.9:c.6796_6810del
ENST00000257430.8:c.6796_6810del
ENST00000508376.6:c.6796_6810del
ENST00000508624.5:c.*6118_*6132del
ENST00000520401.1:n.230+13418_230+13432del
NM_000038.5:c.6796_6810del
NM_001127510.2:c.6796_6810del
NM_001127511.2:c.6742_6756del
NM_001354895.1:c.6796_6810del
NM_001354896.1:c.6850_6864del
NM_001354897.1:c.6826_6840del
NM_001354898.1:c.6721_6735del
NM_001354899.1:c.6712_6726del
NM_001354900.1:c.6673_6687del
NM_001354901.1:c.6619_6633del
NM_001354902.1:c.6523_6537del
NM_001354903.1:c.6493_6507del
NM_001354904.1:c.6418_6432del
NM_001354905.1:c.6316_6330del
NM_001354906.1:c.5947_5961del
NM_001127510.3:c.6796_6810del
NM_001127511.3:c.6742_6756del
NM_001354895.2:c.6796_6810del
NM_001354896.2:c.6850_6864del
NM_001354897.2:c.6826_6840del
NM_001354898.2:c.6721_6735del
NM_001354899.2:c.6712_6726del
NM_001354900.2:c.6673_6687del
NM_001354901.2:c.6619_6633del
NM_001354902.2:c.6523_6537del
NM_001354903.2:c.6493_6507del
NM_001354904.2:c.6418_6432del
NM_001354905.2:c.6316_6330del
NM_001354906.2:c.5947_5961del
Evidence submitted by expert panel
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