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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
Deletion
(splice acceptor variant +1 more)
not provided
GPathogenic
PMS2
(G857A +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
PMS2
Single nucleotide variant
(splice donor variant)
not provided
+7 more
GPathogenic/Likely pathogenic
PMS2
(R802* +9 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GBenign
PMS2
(N775S +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(E763G +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GBenign
PMS2
(G750D +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
PMS2
(V717M +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+8 more
GConflicting classifications of pathogenicity
PMS2
(E705K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
PMS2
(D699H +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic/Likely pathogenic
PMS2
(T671M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
PMS2
(E667K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
Deletion
(nonsense +1 more)
not provided
+5 more
GPathogenic
PMS2
(M622I +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(M622V +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PMS2
(I476fs +7 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(T597S +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
GBenign
PMS2
(R563L +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
PMS2
(C551* +7 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
PMS2
(K541E +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GLikely benign
PMS2
(S517R +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
PMS2
(T511A +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GBenign
PMS2
(T485K +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(T174fs +19 more)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
PMS2
(P470S +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(S455F +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PMS2
(R427H +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
PMS2
(R421* +7 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
(R313fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
PMS2
(D103fs +7 more)
Duplication
(frameshift variant +1 more)
Hereditary nonpolyposis colon cancer
+5 more
GPathogenic
PMS2
(N335S +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(R152fs +4 more)
Microsatellite
(frameshift variant +2 more)
Lynch syndrome
GPathogenic
PMS2
(T277K +4 more)
Single nucleotide variant
(missense variant +2 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome
GBenign
PMS2
Indel
(nonsense +2 more)
Lynch syndrome
GPathogenic
PMS2
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
PMS2
(S128L +2 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+6 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
not specified
+6 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +3 more)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Mismatch repair cancer syndrome 1
+7 more
GPathogenic/Likely pathogenic
PMS2
(D70E)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(D48N)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(S46N)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic/Likely pathogenic
PMS2
(S46I)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GLikely pathogenic
PMS2
(R20Q)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GBenign
PMS2
(I18V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely benign
PMS2
Deletion
(intron variant)
not specified
GLikely benign
PMS2
(A4G)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 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 specified
GLikely benign
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