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Links from MedGen

Items: 1 to 100 of 156

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(I551fs +8 more)
Deletion
(frameshift variant +1 more)
Muir-Torré syndrome
GLikely pathogenic
MSH2
(S134* +8 more)
Single nucleotide variant
(nonsense)
Lynch syndrome 1
+2 more
GPathogenic
MLH1
(L300fs +6 more)
Deletion
(frameshift variant +1 more)
Muir-Torré syndrome
GPathogenic
MSH2
(G249C +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+3 more
GUncertain significance
MLH1
(R240fs +3 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GPathogenic/Likely pathogenic
MSH2
(A570fs +1 more)
Deletion
(frameshift variant)
Muir-Torré syndrome
GPathogenic
MSH2
(C807* +1 more)
Single nucleotide variant
(nonsense)
Muir-Torré syndrome
+1 more
GPathogenic/Likely pathogenic
MLH1
(E53*)
Single nucleotide variant
(nonsense +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(V152I +2 more)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 1
+4 more
GConflicting classifications of pathogenicity
MLH1
(Q62R)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MSH2
(Q158R +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MLH1
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
MSH2
(Y497C +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MLH1
(V411L +8 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MSH2
(A623T +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MLH1
(Y332* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GPathogenic/Likely pathogenic
MLH1
(C77G)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MLH1
(A248G +3 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GUncertain significance
LRRFIP2, MLH1
Copy number loss
Muir-Torré syndrome
GPathogenic
MLH1
(M242I +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MLH1
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic/Likely pathogenic
MSH2
(S585F +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MLH1
(G351R +4 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+6 more
GConflicting classifications of pathogenicity
MSH2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GLikely benign
MSH2
(M485T +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MSH2
(V155A +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MSH2
(S554N +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
MLH1
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
MSH2
(N331S +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MLH1
(R18H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MSH2
(R631K +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH2
(E452K +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MLH1
(A282T +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MLH1
(V224I +2 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GUncertain significance
MLH1
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GUncertain significance
MLH1
(A31T)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MLH1
(K274R +3 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+6 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GLikely benign
MLH1
(V76I)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+8 more
GUncertain significance
MSH2
(D91V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+4 more
GUncertain significance
MLH1
(T81S)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GUncertain significance
MSH2
(S494P +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
MLH1
(R10Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MSH2
(A609S +1 more)
Single nucleotide variant
(missense variant)
MSH2-related disorder
+7 more
GConflicting classifications of pathogenicity
MSH2
(T754S +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+7 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
MSH2
(Q170E +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+7 more
GConflicting classifications of pathogenicity
MLH1
(S592N +5 more)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 1
+7 more
GUncertain significance
MLH1
(G373E +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+6 more
GUncertain significance
MSH2
(Q601R +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+6 more
GConflicting classifications of pathogenicity
MSH2
(T754A +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH2
(I418M +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+8 more
GConflicting classifications of pathogenicity
MLH1
(M524I +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
MSH2
(L135V +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH2
(G126S +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+5 more
GUncertain significance
MLH1
(G373R +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+7 more
GConflicting classifications of pathogenicity
MSH2
(G25C)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
+5 more
GUncertain significance
MLH1
(V180del +2 more)
Microsatellite
(inframe_deletion +2 more)
Muir-Torré syndrome
+1 more
GConflicting classifications of pathogenicity
MSH2
Single nucleotide variant
Lynch syndrome 1
+6 more
GUncertain significance
MLH1
(V152M +2 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+4 more
GUncertain significance
MSH2
(A189G +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+7 more
GConflicting classifications of pathogenicity
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)
Colorectal cancer, hereditary nonpolyposis, type 2
+6 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH2
(E643K +1 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
MLH1
(R385H +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
MSH2
(E56K)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
MSH2
(N74H +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+7 more
GConflicting classifications of pathogenicity
MSH2
(G204R +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+6 more
GConflicting classifications of pathogenicity
MSH2
(Q413P +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MLH1
(S577L +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(intron variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+8 more
GConflicting classifications of pathogenicity
MLH1
(E448D +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
MSH2
(N331D +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GUncertain significance
MSH2
(T33P)
Single nucleotide variant
(missense variant +1 more)
Muir-Torré syndrome
+7 more
GConflicting classifications of pathogenicity
MSH2
(E290* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(I169V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
MSH2
(G162R +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GPathogenic
MSH2
(I145M +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+9 more
GConflicting classifications of pathogenicity
MSH2
(Q64fs)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH2
(L94del +1 more)
Microsatellite
(inframe_deletion)
Lynch syndrome
GBenign
MSH2
(H839R +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+8 more
GConflicting classifications of pathogenicity
MSH2
(T8M)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MSH2
(R711* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(P670L +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
MSH2
(M1L)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GUncertain significance
MSH2
(Q629R +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MSH2
(R621* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(T564A +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MSH2
Single nucleotide variant
(synonymous variant)
Lynch syndrome
GLikely benign
MSH2
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GLikely pathogenic
MSH2
(H46Q)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
MSH2
(Y43C)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
+8 more
GConflicting classifications of pathogenicity
MSH2
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GLikely pathogenic
MSH2
(Q419K +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
MSH2
(R406Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
MSH2
(R383* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GPathogenic
MSH2
(P349A +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+7 more
GConflicting classifications of pathogenicity
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