Project HERA
MBD4 variants
Every MBD4 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
MBD4 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
MBD4
NM_001276270.2:c.1073T>C
NP_001263199.1:p.(I358T)
Benign
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MBD4
NM_003925.3:c.1231_1234del
NP_003916.1:p.(R411Gfs*79)
VUS
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MBD4
NM_001276270.2:c.106A>G
NP_001263199.1:p.(K36E)
VUS
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MBD4
NM_001276270.2:c.1382A>G
NP_001263199.1:p.(N461S)
VUS
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MBD4
NM_001276270.2:c.1024T>C
NP_001263199.1:p.(S342P)
Benign
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MBD4
NM_001276270.2:c.335+27T>C
NP_001263199.1:p.?
Benign
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MBD4
NM_001276270.2:c.817G>A
NP_001263199.1:p.(A273T)
Benign
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MBD4
NM_001276270.2:c.1395C>T
NP_001263199.1:p.(G465=)
Benign
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MBD4
NM_001276270.2:c.1543+14C>T
NP_001263199.1:p.?
Benign
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MBD4
NM_003925.3:c.682G>C
NP_003916.1:p.(V228L)
VUS
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MBD4
NM_003925.3:c.1177T>G
NP_003916.1:p.(F393V)
Likely Benign
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MBD4
NM_003925.3:c.89C>T
NP_003916.1:p.(P30L)
VUS
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MBD4
NM_003925.3:c.89C>T
NP_003916.1:p.(P30L)
Likely Benign
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MBD4
NM_003925.3:c.1015G>A
NP_003916.1:p.(A339T)
VUS
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