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Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
(G857A +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(W841* +9 more)
Single nucleotide variant
(nonsense +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PMS2
(M834I +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
PMS2
(R813W +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
PMS2
(R802Q +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(R799W +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GConflicting classifications of pathogenicity
PMS2
(D784N +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
PMS2
(V783I +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PMS2
(I755T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+3 more
GUncertain significance
PMS2
(L420fs +7 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(L538fs +7 more)
Microsatellite
(frameshift variant +1 more)
Lynch syndrome
GUncertain significance
PMS2
(L723V +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GUncertain significance
PMS2
(V717M +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+8 more
GConflicting classifications of pathogenicity
PMS2
(I688V +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PMS2
(T671M +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+6 more
GConflicting classifications of pathogenicity
PMS2
(I476fs +7 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(S396R +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+1 more
GUncertain significance
PMS2
(P383fs +7 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 4
+1 more
GPathogenic/Likely pathogenic
PMS2
(Q567R +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PMS2
(R563L +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
PMS2
(S354P +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
GUncertain significance
PMS2
(K541E +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GBenign
PMS2
Duplication
(inframe_insertion +1 more)
Lynch syndrome
+3 more
GUncertain significance
PMS2
(S335G +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
GUncertain significance
PMS2
(Y519H +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+4 more
GConflicting classifications of pathogenicity
PMS2
(G512S +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(E504G +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+3 more
GUncertain significance
PMS2
(V501M +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PMS2
(G497D +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+4 more
GConflicting classifications of pathogenicity
PMS2
(E491D +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+1 more
GUncertain significance
PMS2
(H479Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+7 more
GConflicting classifications of pathogenicity
PMS2
(S478G +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+5 more
GConflicting classifications of pathogenicity
PMS2
(G452R +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+3 more
GConflicting classifications of pathogenicity
PMS2
(R451K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
PMS2
(R427H +7 more)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 4
+4 more
GConflicting classifications of pathogenicity
PMS2
(F424S +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
PMS2
(V415M +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
PMS2
(R407G +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
(P404R +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(K203E +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+2 more
GUncertain significance
PMS2
(D391H +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome 4
+1 more
GLikely benign
PMS2
(N335S +5 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+7 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(D328G +5 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(Y318C +5 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GConflicting classifications of pathogenicity
PMS2
(H210Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+2 more
GUncertain significance
PMS2
(M312I +5 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(V306A +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+5 more
GUncertain significance
PMS2
(R294Q +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PMS2
(R152fs +4 more)
Microsatellite
(frameshift variant +2 more)
Lynch syndrome
GPathogenic
PMS2
(Q288* +4 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GPathogenic
PMS2
(D286G +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
PMS2
(Q275H +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+3 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome 4
+3 more
GLikely benign
PMS2
(S238R +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(S238N +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
(L236F +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+4 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
Deletion
(intron variant)
not specified
+7 more
GBenign/Likely benign
PMS2
(G207E +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
PMS2
(N204S +3 more)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 4
+6 more
GUncertain significance
PMS2
(Y191C +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(M184I +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(intron variant)
Lynch syndrome 4
+2 more
GLikely benign
PMS2
(L166P +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PMS2
(V159M +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+7 more
GConflicting classifications of pathogenicity
PMS2
(R151C +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GUncertain significance
PMS2
(Y149S +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(T44P +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome
GLikely benign
PMS2
(S128L +2 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GLikely benign
PMS2
Single nucleotide variant
(synonymous variant +3 more)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
PMS2
(L65R)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(D60E)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GLikely benign
PMS2
(S46I)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GLikely pathogenic
PMS2
(N45S)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(A38V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
+6 more
GUncertain significance
PMS2
(Q30R)
Single nucleotide variant
(missense variant +3 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
(G29A)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
+7 more
GConflicting classifications of pathogenicity
PMS2
(I18T)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 4
+7 more
GConflicting classifications of pathogenicity
PMS2
(I18V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely benign
PMS2
Single nucleotide variant
(non-coding transcript variant)
Lynch syndrome 4
GLikely benign
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