Project HERA
MSH2 variants
Every MSH2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
MSH2 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
MSH2
NM_000251.3:c.712del
NP_000242.1:p.(Y238Ifs*8)
VUS
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MSH2
NM_000251.3:c.2005+1G>A
NP_000242.1:p.?
Likely Pathogenic
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MSH2
NM_000251.3:c.1255C>T
NP_000242.1:p.(Q419*)
Pathogenic
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MSH2
NM_000251.2:c.1511-1G>A
NP_000242.1:p.?
VUS
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MSH2
NM_000251.2:c.366+1G>A
NP_000242.1:p.?
VUS
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MSH2
NM_000251.3:c.2001_2002del
NP_000242.1:p.(T668Wfs*7)
VUS
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MSH2
NM_000251.3:c.630G>A
NP_000242.1:p.(M210I)
VUS
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MSH2
NM_000251.2:c.367-1G>A
NP_000242.1:p.?
Pathogenic
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MSH2
NM_000251.3:c.1132del
NP_000242.1:p.(E378Kfs*34)
VUS
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MSH2
NM_000251.2:c.1381G>A
NP_000242.1:p.(D461N)
VUS
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MSH2
NM_000251.3:c.1132del
NP_000242.1:p.(E378Kfs*34)
VUS
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MSH2
NM_000251.2:c.873_876del
NP_000242.1:p.(T292Lfs*8)
Pathogenic
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MSH2
NM_000251.3:c.211+9C>A
NP_000242.1:p.?
Likely Benign
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MSH2
NM_000251.3:c.1316_1318del
NP_000242.1:p.(P439del)
VUS
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MSH2
NM_000251.3:c.1619G>C
NP_000242.1:p.(S540T)
VUS
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MSH2
NM_000251.3:c.2197G>A
NP_000242.1:p.(A733T)
VUS
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MSH2
NM_000251.3:c.609del
NP_000242.1:p.(G204Efs*10)
VUS
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MSH2
NM_000251.3:c.198C>A
NP_000242.1:p.(Y66*)
VUS
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MSH2
NM_000251.3:c.2458+8C>G
NP_000242.1:p.?
Likely Benign
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MSH2
NM_000251.3:c.2034T>A
NP_000242.1:p.(Y678*)
VUS
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MSH2
NM_000251.3:c.1147C>T
NP_000242.1:p.(R383*)
Pathogenic
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MSH2
NM_000251.3:c.1661+1G>A
NP_000242.1:p.?
Pathogenic
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MSH2
NM_000251.3:c.182A>C
NP_000242.1:p.(Q61P)
VUS
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MSH2
NM_000251.3:c.802dup
NP_000242.1:p.(S268Ffs*16)
VUS
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MSH2
NM_000251.3:c.793-11_794dup
NP_000242.1:p.?
VUS
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MSH2
NM_000251.3:c.942+3A>G
NP_000242.1:p.?
VUS
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MSH2
NM_000251.3:c.67T>C
NP_000242.1:p.(F23L)
Benign
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