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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
(P844H +9 more)
Single nucleotide variant
(missense variant +1 more)
PMS2-related disorder
+4 more
GPathogenic/Likely pathogenic
PMS2
(Q805R +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(R802* +9 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
(D784N +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(A568V +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
PMS2
(G750D +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GConflicting classifications of pathogenicity
PMS2
(L538fs +7 more)
Microsatellite
(frameshift variant +1 more)
Lynch syndrome
GUncertain significance
PMS2
(I688V +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
PMS2
(Q546* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GPathogenic
PMS2
(T573S +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+7 more
GConflicting classifications of pathogenicity
PMS2
(T569A +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
PMS2
(S523T +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(V467I +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
PMS2
(L319S +7 more)
Indel
(missense variant +1 more)
not provided
+5 more
GUncertain significance
PMS2
(Q449E +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PMS2
(R427C +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
PMS2
(P404R +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
PMS2
(Q400P +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
PMS2
(V397I +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
PMS2
(A390V +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(Q184del +5 more)
Microsatellite
(inframe_deletion +2 more)
not specified
+4 more
GUncertain significance
PMS2
(I360M +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely 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
(synonymous variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
PMS2
Duplication
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
PMS2-related disorder
+1 more
GLikely benign
PMS2
(D328G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
PMS2
(N324K +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(Y318C +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
(R315Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+8 more
GConflicting classifications of pathogenicity
PMS2
(M312I +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
Lynch syndrome
+4 more
GBenign/Likely benign
PMS2
(R294W +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
(N293D +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+7 more
GUncertain significance
PMS2
(R152fs +4 more)
Microsatellite
(frameshift variant +2 more)
Lynch syndrome
GPathogenic
PMS2
(Q288fs +4 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome
GPathogenic
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
PMS2
(I273V +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(S125F +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+2 more
GUncertain significance
PMS2
(Y255* +4 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
PMS2
(V251M +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
Indel
(nonsense +2 more)
Lynch syndrome
GPathogenic
PMS2
Deletion
(intron variant)
Lynch syndrome
+6 more
GBenign/Likely benign
PMS2
(N226S +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GLikely benign
PMS2
(G207E +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(N204S +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+6 more
GUncertain significance
PMS2
(T203S +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(R199C +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(M184I +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PMS2
(R169H +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(V159M +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(R151C +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GUncertain significance
PMS2
(L135V +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome
GLikely benign
PMS2
(A127T +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(D119N +2 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+6 more
GUncertain significance
PMS2
(S13C)
Single nucleotide variant
(missense variant +1 more)
PMS2-related disorder
+1 more
GUncertain significance
PMS2
(S4*)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
PMS2
(Q93R)
Single nucleotide variant
(missense variant +3 more)
PMS2-related disorder
+1 more
GUncertain significance
PMS2
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PMS2
(R9*)
Single nucleotide variant
(synonymous variant +3 more)
not provided
+5 more
GBenign/Likely benign
PMS2
(C73Y +1 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(S46I)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GLikely pathogenic
PMS2
(V31L)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(G29A)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
+7 more
GConflicting classifications of pathogenicity
PMS2
(R20W)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(I18T)
Single nucleotide variant
(missense variant +3 more)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
PMS2
(A14S)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PMS2
Duplication
(5 prime UTR variant +1 more)
PMS2-related disorder
GLikely benign
PMS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
PMS2
(M1K)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(M1V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely pathogenic
PMS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
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