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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
(R813L +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(E763G +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
(D756N +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(I755T +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+3 more
GUncertain significance
PMS2
(R747T +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
PMS2
(L718P +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(E705K +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+6 more
GPathogenic/Likely pathogenic
PMS2
(T671M +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
PMS2
(E661K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(L585I +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
(T569A +7 more)
Single nucleotide variant
(missense variant +1 more)
PMS2-related condition
+4 more
GUncertain significance
PMS2
(R563L +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
PMS2
(A520V +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 5
+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
(G497D +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PMS2
(S455P +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(M453T +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(S358T +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(V321I +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
PMS2
(L305V +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+3 more
GUncertain significance
PMS2
Deletion
(intron variant)
not provided
+6 more
GBenign/Likely benign
PMS2
(V168M +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
PMS2
(H126D +2 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+3 more
GUncertain significance
PMS2
(G72A +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
PMS2
(S46I)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GLikely pathogenic
PMS2
(G29A)
Single nucleotide variant
(missense variant +3 more)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
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