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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(T33P)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
MSH2
(Y43C)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
+8 more
GConflicting classifications of pathogenicity
MSH2
(E56K)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+7 more
GConflicting classifications of pathogenicity
MSH2
(D91V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MSH2
(Q64fs)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH2
(L135V +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH2
(V155A +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH2
(Q158R +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MSH2
(Q170E +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
MSH2
(G204R +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH2
(E290* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GPathogenic
MSH2
(Q413P +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH2
(I418M +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+8 more
GConflicting classifications of pathogenicity
MSH2
(S494P +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH2
(S585F +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MSH2
(Q601* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(R621* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(A636P +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GPathogenic
MSH2
(R711* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(genic upstream transcript variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
MLH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MLH1
(N64S)
Single nucleotide variant
(missense variant +2 more)
Muir-Torré syndrome
+9 more
GConflicting classifications of pathogenicity
MLH1
(V76I)
Single nucleotide variant
(missense variant +2 more)
not specified
+8 more
GUncertain significance
MLH1
(R100Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+7 more
GUncertain significance
MLH1
(E102D)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GUncertain significance
MLH1
Single nucleotide variant
(splice acceptor variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GPathogenic/Likely pathogenic
MLH1
(R217H +2 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GConflicting classifications of pathogenicity
MLH1
(V224I +2 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GUncertain significance
MLH1
(R226* +2 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MLH1
(G351R +4 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+6 more
GConflicting classifications of pathogenicity
MLH1
(G373R +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+7 more
GConflicting classifications of pathogenicity
MLH1
(R385H +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
MLH1
(R389Q +5 more)
Single nucleotide variant
(missense variant)
Mismatch repair cancer syndrome 1
+7 more
GConflicting classifications of pathogenicity
MLH1
(D415N +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
MLH1
(E448D +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MLH1
(K461* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(R487* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(S577L +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+7 more
GConflicting classifications of pathogenicity
MLH1
(K618del +5 more)
Microsatellite
(inframe_deletion +1 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(splice acceptor variant +1 more)
Lynch syndrome
GLikely pathogenic
MLH1
(A681T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(R687W +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(Y721C +8 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+8 more
GConflicting classifications of pathogenicity
LRRFIP2, MLH1
Copy number loss
Muir-Torré syndrome
GPathogenic
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