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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
(L786M +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
PMS2
(F778I +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 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
(T703M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
(A702T +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PMS2
(Q681H +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PMS2
(T671M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(E667K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(T573S +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
PMS2
(S523T +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GLikely benign
PMS2
(G497D +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
PMS2
(K472* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic/Likely pathogenic
PMS2
(K433* +7 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome 4
+3 more
GPathogenic
PMS2
(R421* +7 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
(D103fs +7 more)
Duplication
(frameshift variant +1 more)
Hereditary nonpolyposis colon cancer
+5 more
GPathogenic
PMS2
(D391Y +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PMS2
(M312L +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PMS2
(G207E +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+6 more
GConflicting classifications of pathogenicity
PMS2
(Y181F +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PMS2
(I143T +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(I18V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely benign
PMS2
(K16E)
Single nucleotide variant
(missense variant +3 more)
not specified
+4 more
GUncertain significance
PMS2
Deletion
Hereditary cancer-predisposing syndrome
GPathogenic
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