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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- See Evidence submitted by expert panel for details.
CA10576608
229175 (ClinVar)
Gene: RAF1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 919f50ca-3d8b-43ff-8ea0-a44b985bc2e3
HGVS expressions
NM_002880.3:c.124_125delGCinsAT
NM_002880.3:c.124_125delinsAT
NM_001354689.1:c.124_125delinsAT
NM_001354690.1:c.124_125delinsAT
NM_001354691.1:c.-7_-6delinsAT
NM_001354692.1:c.-7_-6delinsAT
NM_001354693.1:c.124_125delinsAT
NM_001354694.1:c.-7_-6delinsAT
NM_001354695.1:c.-7_-6delinsAT
NR_148940.1:n.539_540delinsAT
NR_148941.1:n.539_540delinsAT
NR_148942.1:n.539_540delinsAT
ENST00000251849.8:c.124_125delinsAT
ENST00000416093.1:c.124_125delinsAT
ENST00000423275.5:c.124_125delinsAT
ENST00000442415.6:c.124_125delinsAT
NC_000003.12:g.12618597_12618598delinsAT
CM000665.2:g.12618597_12618598delinsAT
NC_000003.11:g.12660096_12660097delinsAT
CM000665.1:g.12660096_12660097delinsAT
NC_000003.10:g.12635096_12635097delinsAT
NG_007467.1:g.50582_50583delinsAT
Evidence submitted by expert panel
Approved on: 2019-09-24
Published on: 2019-12-03
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