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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(D91V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+4 more
GUncertain significance
MSH2
(Q130* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
MSH2
(L109fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome 1
GLikely pathogenic
MSH2
(L270V +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MSH2
Single nucleotide variant
(splice acceptor variant)
Lynch syndrome
GLikely pathogenic
MSH2
(G322V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+4 more
GConflicting classifications of pathogenicity
MSH2
(Q339* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
MSH2
(N288S +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+2 more
GUncertain significance
MSH2
(P319fs +1 more)
Duplication
(frameshift variant)
Lynch syndrome 1
GPathogenic
MSH2
(A354fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome 1
GPathogenic
MSH2
(S448C +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MSH2
(F539L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MSH2
(R711* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
Deletion
(inframe_deletion)
Lynch syndrome 1
GUncertain significance
MSH2
(Q793H +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
MSH2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
MSH2
(F887L +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
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