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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(P5L)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+4 more
GConflicting classifications of pathogenicity
MSH2
(S87Y +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+4 more
GConflicting classifications of pathogenicity
MSH2
(L135V +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH2
(Q239E +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+4 more
GConflicting classifications of pathogenicity
MSH2
(L279V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+5 more
GConflicting classifications of pathogenicity
MSH2
(Q298H +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+4 more
GUncertain significance
MSH2
(E357A +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+5 more
GConflicting classifications of pathogenicity
MSH2
(R382C +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MSH2
(D386N +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MSH2
(I454V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MSH2
Indel
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MSH2
(Q510H +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH2
(L533V +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MSH2
(E569G +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MSH2
(N583I +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MSH2
(N596S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
MSH2
(D597A +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
MSH2
(G683V +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MSH2
(C707Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MSH2
(I774T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MSH2
(E852D +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MSH2
(L911R +1 more)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
MSH6
(S63C)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MSH6
(N112S)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 5
+5 more
GConflicting classifications of pathogenicity
MSH6
(I120T)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 5
+5 more
GConflicting classifications of pathogenicity
MSH6
(V215I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH6
(R243H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MSH6
(V250A +1 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
MSH6
(G159E +1 more)
Indel
(missense variant +1 more)
Lynch syndrome
+8 more
GConflicting classifications of pathogenicity
MSH6
(R302T +7 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MSH6
(S314R +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 5
+5 more
GConflicting classifications of pathogenicity
MSH6
(G354V +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MSH6
(N534K +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+4 more
GUncertain significance
MSH6
(L540del +2 more)
Microsatellite
(inframe_deletion)
Lynch syndrome
GPathogenic
MSH6
(T553P +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MSH6
(R577H +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
MSH6
(S616C +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 5
+5 more
GConflicting classifications of pathogenicity
MSH6
(T719I +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 5
+5 more
GConflicting classifications of pathogenicity
MSH6
(C783S +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+6 more
GConflicting classifications of pathogenicity
MSH6
(V800L +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GLikely benign
MSH6
(R766Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MSH6
(F1088fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(R1321G +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MLH1
(F3L)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome 1
GUncertain significance
MLH1
(N209S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MLH1
(P309S +3 more)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GConflicting classifications of pathogenicity
MLH1
(R385H +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+7 more
GConflicting classifications of pathogenicity
MLH1
(R389W +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GUncertain significance
MLH1
(K461* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(T545A +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
+4 more
GConflicting classifications of pathogenicity
MLH1
(K618A +5 more)
Indel
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(R687W +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(R687Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MLH1
(T696I +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MLH1
(D748H +8 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(A725V +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GUncertain significance
PMS2
(T671M +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
PMS2
(I476fs +7 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
Duplication
(inframe_insertion +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(G512D +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+2 more
GUncertain significance
PMS2
(S477Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(A474S +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
PMS2
(T458P +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(P404R +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
PMS2
(Q317* +5 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
(M312I +5 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(Y255* +4 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
PMS2
Indel
(nonsense +2 more)
Lynch syndrome
GPathogenic
PMS2
(S238R +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+4 more
GUncertain significance
PMS2
(R199C +3 more)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 4
+6 more
GConflicting classifications of pathogenicity
PMS2
(I66T)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
PMS2
(S46I)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GLikely pathogenic
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