Project HERA
MSH6 variants
Every MSH6 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
MSH6 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
MSH6
NM_000179.3:c.3674C>T
NP_000170.1:p.(T1225M)
VUS
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MSH6
NM_000179.3:c.2463A>C
NP_000170.1:p.(L821=)
Likely Benign
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MSH6
NM_000179.3:c.4002-16_4002-10del
NP_000170.1:p.?
VUS
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MSH6
NM_000179.2:c.3926C>A
NP_000170.1:p.(P1309Q)
VUS
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MSH6
NM_000179.2:c.2975A>G
NP_000170.1:p.(E992G)
VUS
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MSH6
NM_000179.3:c.2731C>T
NP_000170.1:p.(R911*)
Pathogenic
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MSH6
NM_000179.3:c.1403G>A
NP_000170.1:p.(R468H)
Likely Benign
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MSH6
NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
VUS
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MSH6
NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
VUS
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MSH6
NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
VUS
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MSH6
NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
VUS
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MSH6
NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
Likely Benign
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MSH6
NM_000179.3:c.1822A>G
NP_000170.1:p.(I608V)
VUS
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MSH6
NM_000179.2:c.1796G>A
NP_000170.1:p.(G599E)
—
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MSH6
NM_000179.2:c.1483C>T
NP_000170.1:p.(R495*)
Pathogenic
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MSH6
NM_000179.2:c.4068_4071dup
NP_000170.1:p.(K1358Dfs*2)
Benign
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MSH6
NM_000179.3:c.3602_3606delinsAA
NP_000170.1:p.(L1201_M1202delinsQ)
VUS
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MSH6
NM_000179.3:c.3162C>T
NP_000170.1:p.(I1054=)
Likely Benign
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MSH6
NM_000179.3:c.2526T>G
NP_000170.1:p.(A842=)
Likely Benign
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MSH6
NM_000179.3:c.3603C>A
NP_000170.1:p.(L1201=)
Likely Benign
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MSH6
NM_000179.3:c.533G>T
NP_000170.1:p.(R178L)
VUS
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MSH6
NM_000179.2:c.440T>G
NP_000170.1:p.(L147R)
VUS
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MSH6
NM_000179.3:c.643G>C
NP_000170.1:p.(V215L)
VUS
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MSH6
NM_000179.3:c.1054G>A
NP_000170.1:p.(V352I)
VUS
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MSH6
NM_000179.2:c.188C>T
NP_000170.1:p.(S63F)
VUS
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MSH6
NM_000179.2:c.3412G>A
NP_000170.1:p.(G1138R)
VUS
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MSH6
NM_000179.3:c.4002-26_4002-25insCT
NP_000170.1:p.?
Benign
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MSH6
NM_000179.3:c.4002-28_4002-26dup
NP_000170.1:p.?
Benign
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MSH6
NM_000179.3:c.260+21T>G
NP_000170.1:p.?
Likely Benign
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MSH6
NM_000179.3:c.1135_1139del
NP_000170.1:p.(R379*)
Pathogenic
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MSH6
NM_000179.3:c.3312del
NP_000170.1:p.(F1104Lfs*11)
Pathogenic
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MSH6
NM_000179.3:c.836G>A
NP_000170.1:p.(S279N)
VUS
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MSH6
NM_000179.3:c.4002-28_4002-26dup
NP_000170.1:p.?
Benign
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MSH6
NM_000179.3:c.3334G>A
NP_000170.1:p.(D1112N)
VUS
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MSH6
NM_000179.3:c.4002-17T>C
NP_000170.1:p.?
VUS
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MSH6
NM_000179.3:c.3261del
NP_000170.1:p.(F1088Sfs*2)
Pathogenic
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MSH6
NM_000179.3:c.-2G>T
NP_000170.1:p.?
VUS
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MSH6
NM_000179.3:c.3483T>C
NP_000170.1:p.(P1161=)
Likely Benign
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MSH6
NM_000179.3:c.866G>A
NP_000170.1:p.(G289D)
Likely Benign
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MSH6
NM_000179.3:c.2091T>C
NP_000170.1:p.(D697=)
Likely Benign
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MSH6
NM_000179.3:c.4T>A
NP_000170.1:p.(S2T)
VUS
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MSH6
NM_000179.3:c.3556+1G>C
NP_000170.1:p.?
VUS
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MSH6
NM_000179.3:c.199C>A
NP_000170.1:p.(P67T)
VUS
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MSH6
NM_000179.3:c.942C>G
NP_000170.1:p.(S314R)
VUS
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