Gene2Phenotype
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G2P VEP Plugin
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Terminology
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ALL
Cancer
DD
Eye
Skin
for:
For example:
CRYBA1
,
ZEB2
,
TBX1
,
CHANARIN-DORFMAN SYNDROME
or
Severe Neurodevelopmental Syndrome
Search results for MSH2
Genes:
MSH2
Panel:
Cancer
Gene:
MSH2
Genotype:
monoallelic
Mechanism:
loss of function
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
Panel:
Cancer
Gene:
MSH2
Genotype:
biallelic
Mechanism:
loss of function
Disease:
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME
Panel:
Skin
Gene:
MSH2
Genotype:
biallelic
Mechanism:
loss of function
Disease:
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME (CCMRD)
Panel:
Skin
Gene:
MSH2
Genotype:
monoallelic
Mechanism:
loss of function
Disease:
MUIR-TORRE SYNDROME