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Links from MedGen

Items: 1 to 100 of 230

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
(S523T +23 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSH2
(R340G +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
MLH1
(R240fs +3 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
MSH6
Copy number gain
Mismatch repair cancer syndrome 1
GLikely pathogenic
MSH6
(N1099fs +2 more)
Insertion
(frameshift variant)
Mismatch repair cancer syndrome 1
GLikely pathogenic
MLH1
(S234G +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MLH1
(V152I +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MLH1
(Q62R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MSH6
(V178fs +2 more)
Duplication
(frameshift variant)
Mismatch repair cancer syndrome 1
GPathogenic
PMS2
Deletion
Mismatch repair cancer syndrome 1
GPathogenic
PMS2
Single nucleotide variant
(intron variant +1 more)
Mismatch repair cancer syndrome 1
GPathogenic
MLH1
Single nucleotide variant
(splice acceptor variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GPathogenic/Likely pathogenic
PMS2
Single nucleotide variant
(intron variant)
Mismatch repair cancer syndrome 1
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GConflicting classifications of pathogenicity
PMS2
(V11F +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MSH6
(C108R)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MLH1
(V411L +8 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
Deletion
(intron variant)
Mismatch repair cancer syndrome 1
GUncertain significance
MLH1
(Y332* +7 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
MLH1
(C77G)
Single nucleotide variant
(missense variant +2 more)
Mismatch repair cancer syndrome 1
+4 more
GUncertain significance
MLH1
(A248G +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MLH1
(M242I +3 more)
Single nucleotide variant
(missense variant +3 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GUncertain significance
MLH1
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
MSH2
(R153fs +1 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
MSH6
(E1348A +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MLH1
(G351R +4 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+6 more
GConflicting classifications of pathogenicity
MLH1
(R217S +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+2 more
GUncertain significance
PMS2
(L239F +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PMS2
(Q25H)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 4
+3 more
GUncertain significance
PMS2
(K224N +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MSH2
(V155A +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
PMS2
(H201fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GPathogenic
MSH6
(K728R +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+6 more
GConflicting classifications of pathogenicity
MLH1
(R18H)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GUncertain significance
MLH1
(A282T +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MSH6
(D839H +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
MSH6
(R62C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MLH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MLH1
(A31T)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
MSH6
(T767S +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(Q317K +5 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GUncertain significance
MSH6
(K545E +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 5
+6 more
GConflicting classifications of pathogenicity
MLH1
(K274R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
PMS2
(Q643R +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH6
(V424I +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+5 more
GUncertain significance
MSH6
(A35V)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
MLH1
(V384I +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+4 more
GUncertain significance
PMS2
(S459* +7 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
MLH1
Single nucleotide variant
(intron variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GLikely benign
MSH2
Deletion
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
PMS2
(W530fs +9 more)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
PMS2
(P221L +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MLH1
(V76I)
Single nucleotide variant
(missense variant +2 more)
not specified
+8 more
GUncertain significance
PMS2
(A110S)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(E225D +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+6 more
GUncertain significance
MSH6
(L1150F +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+4 more
GUncertain significance
MSH6
Single nucleotide variant
(splice donor variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GLikely pathogenic
PMS2
(P338A +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MLH1
(T81S)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
PMS2
(D526N +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary nonpolyposis colon cancer
+6 more
GPathogenic/Likely pathogenic
PMS2
(A854T +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MLH1
(T270A +3 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GConflicting classifications of pathogenicity
MSH2
(A609S +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+7 more
GConflicting classifications of pathogenicity
MSH6
(F1104L +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH6
(S63P)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+7 more
GConflicting classifications of pathogenicity
PMS2
(P794S +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MLH1
(R217H +2 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GLikely benign
MLH1
(S592N +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GUncertain significance
MLH1
(G373E +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
PMS2
(E518K +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GConflicting classifications of pathogenicity
MSH2
(Q601R +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH6
(G46R)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 5
+6 more
GUncertain significance
MSH2
(Q793H +1 more)
Single nucleotide variant
(missense variant)
Mismatch repair cancer syndrome 1
+6 more
GConflicting classifications of pathogenicity
MSH2
(I418M +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+8 more
GConflicting classifications of pathogenicity
MSH6
(R302K +7 more)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
+3 more
GConflicting classifications of pathogenicity
MSH6
(G46R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MLH1
(M524I +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+7 more
GConflicting classifications of pathogenicity
MSH2
(L135V +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH6
(T987A +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MSH2
(G126S +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+5 more
GUncertain significance
MLH1
(G373R +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+7 more
GConflicting classifications of pathogenicity
PMS2
(A520V +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
MLH1
(Y97C +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome
+7 more
GPathogenic/Likely pathogenic
MSH6
(E442fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
+7 more
GPathogenic/Likely pathogenic
MSH6
(Q4*)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
+8 more
GPathogenic/Likely pathogenic
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome 1
+5 more
GConflicting classifications of pathogenicity
PMS2
(R169H +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PMS2
(M1K)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
MSH6
(N1307H +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+6 more
GUncertain significance
MSH2
(L128R +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
MLH1
(D415N +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MSH2
(E643K +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
MLH1
(R497W +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+3 more
GConflicting classifications of pathogenicity
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