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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(M622I +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
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
(L571I +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
PMS2
(N570D +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
PMS2
(R563L +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
PMS2
(R563* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GPathogenic
PMS2
(K541E +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GBenign
PMS2
(S523T +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
PMS2
(T511M +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(T511A +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(G497D +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
PMS2
(T485K +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(H479Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
PMS2
(P470S +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(L319S +7 more)
Indel
(missense variant +1 more)
not provided
+5 more
GUncertain significance
PMS2
(A423T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
GUncertain significance
PMS2
(R421* +7 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
(K412E +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(N335S +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(D286G +4 more)
Single nucleotide variant
(missense variant +2 more)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
PMS2
(I273V +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(G218D +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(V200I +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PMS2
(A127T +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(L56V)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GBenign/Likely benign
PMS2
(G29A)
Single nucleotide variant
(missense variant +3 more)
not specified
+7 more
GConflicting classifications of pathogenicity
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
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