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_002880.3(RAF1):c.1108+9_1108+21delGGGGCCCTCCCTT
CA182757
178666 (ClinVar)
Gene: RAF1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: e3caac03-d88a-45f8-bcde-e41975fe8745
Approved on: 2017-04-03
Published on: 2018-12-10
HGVS expressions
NM_002880.3:c.1108+9_1108+21del
NM_002880.3:c.1108+9_1108+21delGGGGCCCTCCCTT
NM_002880.3(RAF1):c.1108+9_1108+21delGGGGCCCTCCCTT
NC_000003.12:g.12599673_12599685del
CM000665.2:g.12599673_12599685del
NC_000003.11:g.12641172_12641184del
CM000665.1:g.12641172_12641184del
NC_000003.10:g.12616172_12616184del
NG_007467.1:g.69498_69510del
NM_001354689.1:c.1168+9_1168+21del
NM_001354690.1:c.1108+9_1108+21del
NM_001354691.1:c.865+9_865+21del
NM_001354692.1:c.865+9_865+21del
NM_001354693.1:c.1009+9_1009+21del
NM_001354694.1:c.925+9_925+21del
NM_001354695.1:c.766+9_766+21del
NR_148940.1:n.1523+9_1523+21del
NR_148941.1:n.1523+9_1523+21del
NR_148942.1:n.1521+9_1521+21del
ENST00000251849.8:c.1108+9_1108+21del
ENST00000423275.5:c.*785+9_*785+21del
ENST00000432427.2:n.745+9_745+21del
ENST00000442415.6:c.1168+9_1168+21del
ENST00000460610.1:n.65+9_65+21del
ENST00000465826.5:n.352+9_352+21del
More
Evidence submitted by expert panel
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