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Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
Single nucleotide variant
(stop lost +1 more)
Lynch syndrome 4
+3 more
GUncertain significance
PMS2
(A854T +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(splice donor variant)
not provided
+7 more
GPathogenic/Likely pathogenic
PMS2
(S815L +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely pathogenic
PMS2
(A617T +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(R799W +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
(P794S +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
PMS2
(D784N +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
PMS2
(N775S +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(K561fs +7 more)
Microsatellite
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(R747T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+6 more
GUncertain significance
PMS2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PMS2
(V717M +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+8 more
GConflicting classifications of pathogenicity
PMS2
(H715Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 4
+3 more
GUncertain significance
PMS2
(T703M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome 4
+3 more
GLikely benign
PMS2
(T671M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(K670E +7 more)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 4
+4 more
GUncertain significance
PMS2
(Q643R +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
PMS2
(H442R +7 more)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 4
+3 more
GUncertain significance
PMS2
(K402fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GPathogenic/Likely pathogenic
PMS2
Indel
(missense variant +1 more)
Lynch syndrome 4
+4 more
GConflicting classifications of pathogenicity
PMS2
(R563* +7 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
+6 more
GPathogenic
PMS2
(F562L +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(D526N +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(D526Y +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
PMS2
(A520V +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
PMS2
(Y519C +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+6 more
GConflicting classifications of pathogenicity
PMS2
(E518K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+7 more
GBenign/Likely benign
PMS2
(G480R +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GUncertain significance
PMS2
(R427H +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
PMS2
(K412E +7 more)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 4
+4 more
GUncertain significance
PMS2
(A198T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GUncertain significance
PMS2
(V321A +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(Q317K +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
PMS2
(R315Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
PMS2
(R315* +5 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
(Y310C +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+4 more
GUncertain significance
PMS2
(V302F +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+4 more
GUncertain significance
PMS2
Single nucleotide variant
(splice acceptor variant +1 more)
Lynch syndrome 4
+4 more
GPathogenic/Likely pathogenic
PMS2
(N293D +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+6 more
GUncertain significance
PMS2
(R152fs +4 more)
Microsatellite
(frameshift variant +2 more)
Lynch syndrome
GPathogenic
PMS2
(D286G +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary nonpolyposis colon cancer
+6 more
GPathogenic/Likely pathogenic
PMS2
(Q275* +4 more)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome 4
+6 more
GPathogenic
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome
GBenign
PMS2
(G256S +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
Indel
(nonsense +2 more)
Lynch syndrome
GPathogenic
PMS2
(L239F +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(Q237L +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+4 more
GUncertain significance
PMS2
Indel
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(E225D +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
+6 more
GUncertain significance
PMS2
(K224N +3 more)
Single nucleotide variant
(missense variant +3 more)
Mismatch repair cancer syndrome 1
+3 more
GUncertain significance
PMS2
(G218D +3 more)
Single nucleotide variant
(missense variant +3 more)
Mismatch repair cancer syndrome 4
+5 more
GUncertain significance
PMS2
(Y56* +3 more)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome 4
+2 more
GPathogenic
PMS2
Single nucleotide variant
(splice acceptor variant +1 more)
Mismatch repair cancer syndrome 4
+2 more
GLikely pathogenic
PMS2
Deletion
(splice donor variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
PMS2
Single nucleotide variant
(splice donor variant +1 more)
Lynch syndrome 4
+4 more
GLikely pathogenic
PMS2
(R169H +3 more)
Single nucleotide variant
(missense variant +2 more)
Mismatch repair cancer syndrome 1
+6 more
GConflicting classifications of pathogenicity
PMS2
(V168M +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(T165I +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+5 more
GUncertain significance
PMS2
(F163L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GUncertain significance
PMS2
(V159M +3 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+7 more
GConflicting classifications of pathogenicity
PMS2
(A129V +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
PMS2
(A110S)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Mismatch repair cancer syndrome 1
+7 more
GPathogenic/Likely pathogenic
PMS2
(S46I)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GLikely pathogenic
PMS2
(A38V)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(Q25H)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(I18T)
Single nucleotide variant
(missense variant +3 more)
not specified
+6 more
GConflicting classifications of pathogenicity
PMS2
(R3Q)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(M1K)
Single nucleotide variant
(missense variant +3 more)
PMS2-related disorder
+6 more
GPathogenic/Likely pathogenic
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