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Items: 1 to 100 of 435

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
(A854P +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(H852Y +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PMS2
(M449T +28 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
GUncertain significance
PMS2
(P848L +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PMS2
(W530fs +9 more)
Deletion
(frameshift variant +1 more)
Mismatch repair cancer syndrome 1
+4 more
GPathogenic/Likely pathogenic
PMS2
(H438fs +28 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 4
GPathogenic
PMS2
(M436V +28 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+1 more
GUncertain significance
PMS2
(E525fs +9 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
PMS2
(E645K +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(H833Y +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PMS2
(E826K +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
PMS2
Single nucleotide variant
(splice donor variant)
not provided
+7 more
GPathogenic/Likely pathogenic
PMS2
(S815L +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely pathogenic
PMS2
(R412P +28 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
GUncertain significance
PMS2
(R813L +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PMS2
(R813W +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
(C812F +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(R619G +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(S757F +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PMS2
(Q805R +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+4 more
GUncertain significance
PMS2
(K804N +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
PMS2
(K493* +9 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome 4
GLikely pathogenic
PMS2
(R802Q +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(R802* +9 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
(S610fs +9 more)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
PMS2
(R799Q +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(V796I +9 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GUncertain significance
PMS2
(G795E +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(P794R +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PMS2
(M478L +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
PMS2
(M686V +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(F601fs +9 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(I596T +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(I787F +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(D591G +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+2 more
GUncertain significance
PMS2
(P469L +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+1 more
GUncertain significance
PMS2
(G779R +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(N775I +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PMS2
(T461I +9 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 4
+2 more
GUncertain significance
PMS2
(T515A +26 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PMS2
(L643P +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(E763G +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
(E763K +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(V761I +9 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
PMS2
(D756Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(D756N +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+4 more
GConflicting classifications of pathogenicity
PMS2
(G750D +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
PMS2
(N749K +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
PMS2
(R747T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+6 more
GUncertain significance
PMS2
(V337fs +21 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 4
GLikely pathogenic
PMS2
(E736A +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(L420fs +7 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(T732A +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(L729V +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
PMS2
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GLikely pathogenic
PMS2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(splice donor variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(L723P +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+3 more
GUncertain significance
PMS2
(R411G +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(L718F +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(T716A +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(Q713* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GPathogenic/Likely pathogenic
PMS2
(L401P +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(E710K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(K519fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary nonpolyposis colon cancer
+6 more
GPathogenic
PMS2
(E705K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
PMS2
(T703M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
(H701Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
PMS2
(D699H +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic/Likely pathogenic
PMS2
(I697M +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(K690R +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(K690Q +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
(G374R +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+2 more
GUncertain significance
PMS2
(Q494H +20 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+1 more
GUncertain significance
PMS2
(Q424K +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PMS2
(I679T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
PMS2
(I679V +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+3 more
GConflicting classifications of pathogenicity
PMS2
(I678T +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
(E364D +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(T671M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(T671A +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
PMS2
Single nucleotide variant
(splice acceptor variant +1 more)
Lynch syndrome 4
+2 more
GPathogenic/Likely pathogenic
PMS2
(E667K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(K355N +19 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
GUncertain significance
PMS2
(D351V +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(E661K +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
PMS2
(E661* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GPathogenic
PMS2
(A659T +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(N470fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
PMS2
(P548A +19 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
GUncertain significance
PMS2
(I652F +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(K651R +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(K647* +7 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
PMS2
(K336fs +7 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 4
+2 more
GPathogenic/Likely pathogenic
PMS2
(R646M +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GConflicting classifications of pathogenicity
PMS2
(R455G +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PMS2
(Y645C +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+3 more
GUncertain significance
PMS2
(Q643H +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
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