Project HERA
CDKN2A variants
Every CDKN2A variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
CDKN2A variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
CDKN2A
NM_000077.5:c.170C>G
NP_000068.1:p.(A57G)
VUS
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CDKN2A
NM_000077.5:c.253G>T
NP_000068.1:p.(A85S)
VUS
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CDKN2A
NM_001195132.1:c.341C>T
NP_001182061.1:p.(P114L)
Pathogenic
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CDKN2A
NM_000077.4:c.76G>C
NP_000068.1:p.(E26Q)
VUS
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CDKN2A
NM_000077.4:c.221A>T
NP_000068.1:p.(D74V)
VUS
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CDKN2A
NM_000077.4:c.307_308insT
NP_000068.1:p.(R103Lfs*17)
Likely Pathogenic
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CDKN2A
NM_001195132.1:c.44_46dup
NP_001182061.1:p.(W15_L16insR)
VUS
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CDKN2A
NM_000077.4:c.52_83del
NP_000068.1:p.(T18Afs*15)
—
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CDKN2A
NM_001195132.1:c.322G>A
NP_001182061.1:p.(D108N)
VUS
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CDKN2A
NM_001195132.1:c.226del
NP_001182061.1:p.(A76Pfs*70)
Likely Pathogenic
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CDKN2A
NM_000077.5:c.306G>T
NP_000068.1:p.(A102=)
Likely Benign
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CDKN2A
NM_001195132.1:c.124A>C
NP_001182061.1:p.(N42H)
VUS
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CDKN2A
NM_000077.4:c.9_32del
NP_000068.1:p.(A4_P11del)
—
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CDKN2A
NM_000077.4:c.151G>T
NP_000068.1:p.(V51F)
VUS
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CDKN2A
NM_000077.5:c.183G>A
NP_000068.1:p.(E61=)
VUS
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