Project HERA
EZHIP variants
Every EZHIP variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
EZHIP variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
EZHIP
NM_203407.3:c.1379C>G
NP_981952.1:p.(S460C)
VUS
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EZHIP
NM_203407.3:c.741A>T
NP_981952.1:p.(P247=)
Likely Benign
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EZHIP
NM_203407.3:c.551A>G
NP_981952.1:p.(Y184C)
VUS
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EZHIP
NM_203407.3:c.1308C>G
NP_981952.1:p.(N436K)
Benign
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EZHIP
NM_203407.3:c.1272G>A
NP_981952.1:p.(Q424=)
Likely Benign
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EZHIP
NM_203407.3:c.860_892del
NP_981952.1:p.(G287_P297del)
VUS
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EZHIP
NM_203407.3:c.162C>T
NP_981952.1:p.(P54=)
VUS
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EZHIP
NM_203407.3:c.1504G>A
NP_981952.1:p.(E502K)
VUS
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EZHIP
NM_203407.3:c.616G>A
NP_981952.1:p.(A206T)
VUS
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