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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
Single nucleotide variant
(splice donor variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GPathogenic/Likely pathogenic
MSH2
(N472fs +1 more)
Duplication
(frameshift variant)
Lynch syndrome 1
+1 more
GPathogenic/Likely pathogenic
MSH2
(S224* +8 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
MSH2
(Y749* +1 more)
Single nucleotide variant
(nonsense)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GPathogenic
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