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Links from MedGen

Items: 1 to 100 of 1821

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
Copy number loss
Lynch syndrome 1
GPathogenic
MSH2
Deletion
(5 prime UTR variant)
Lynch syndrome 1
GUncertain significance
MSH2
Deletion
(splice donor variant +1 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
(M211fs +8 more)
Indel
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(D163G +5 more)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
+1 more
GUncertain significance
MSH2
(R168fs +5 more)
Deletion
(frameshift variant +3 more)
Lynch syndrome 1
GPathogenic
MSH2
(L381fs +8 more)
Microsatellite
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(D71N +2 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
Deletion
(inframe_deletion +1 more)
Lynch syndrome 1
GUncertain significance
MSH2
(S174* +8 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome 1
GUncertain significance
MSH2
(L125P +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MSH2
Deletion
Lynch syndrome 1
GPathogenic
MSH2
(Q211fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome 1
GUncertain significance
MSH2
(A53V)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MSH2
(I295fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
(G406A +8 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
GUncertain significance
MSH2
(N120T +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 1
GUncertain significance
MSH2
(A319E +8 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
GUncertain significance
MSH2
(N114H +8 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 1
GUncertain significance
MSH2
(H14D +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Lynch syndrome 1
GUncertain significance
MSH2
(Q152K +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 1
GUncertain significance
MSH2
(P177R +8 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
+2 more
GUncertain significance
MSH2
(V378F +8 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
GUncertain significance
MSH2
(G301V +8 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
+1 more
GUncertain significance
MSH2
Deletion
(splice acceptor variant)
Lynch syndrome 1
GLikely pathogenic
MSH2
(L130R +3 more)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
(E297G +8 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
(T280P +8 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
(P244R +8 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
(L190R +6 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
Deletion
(splice donor variant)
Lynch syndrome 1
GLikely pathogenic
MSH2
Single nucleotide variant
(splice acceptor variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GLikely pathogenic
MSH2
(A103* +2 more)
Duplication
(nonsense +2 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic
MSH2
(M211fs +6 more)
Duplication
(5 prime UTR variant +2 more)
Lynch syndrome 1
+1 more
GPathogenic
MSH2
(G428fs +4 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GLikely pathogenic
MSH2
(S15fs +1 more)
Duplication
(frameshift variant +3 more)
Lynch syndrome 1
GPathogenic
MSH2
(F402* +8 more)
Duplication
(nonsense +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(A54fs)
Duplication
(frameshift variant +3 more)
Lynch syndrome 1
GPathogenic
MSH2
(N117fs +6 more)
Indel
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(L150fs +8 more)
Duplication
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(R169fs +8 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(G111fs +6 more)
Indel
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(R168fs +5 more)
Duplication
(non-coding transcript variant +3 more)
Lynch syndrome 1
GPathogenic
MSH2
(S303fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(V270fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(S303fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(R200* +6 more)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome 1
GPathogenic
MSH2
Indel
(nonsense +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(Q193fs +8 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(T157fs +7 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(L210fs +6 more)
Microsatellite
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(L140* +4 more)
Single nucleotide variant
(nonsense +3 more)
Lynch syndrome 1
GPathogenic
MSH2
(A135fs +6 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(K289fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(S146fs +6 more)
Duplication
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(V143fs +3 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(L236* +6 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Lynch syndrome 1
+1 more
GPathogenic
MSH2
(L170fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(L348fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(T139fs +6 more)
Duplication
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(L107* +8 more)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(Y109fs +6 more)
Duplication
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
Duplication
(nonsense +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(I252fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(D176fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(T60fs)
Insertion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(V10fs +3 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
+1 more
GPathogenic
MSH2
(L118* +3 more)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(S185fs +8 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(D123fs +8 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(E356fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(I342fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(G25fs)
Deletion
(frameshift variant +3 more)
Lynch syndrome 1
GPathogenic
MSH2
(L150fs +8 more)
Insertion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(N108fs +8 more)
Insertion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(Y305* +8 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(Q173fs +3 more)
Duplication
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(G301* +8 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(K213fs +8 more)
Indel
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
Deletion
(nonsense +3 more)
Lynch syndrome 1
GPathogenic
MSH2
Single nucleotide variant
(splice donor variant)
Lynch syndrome 1
GPathogenic
MSH2
(Q15fs +5 more)
Duplication
(frameshift variant +3 more)
Lynch syndrome 1
GPathogenic
MSH2
(T195fs +6 more)
Duplication
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(M361fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(S265fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(V12fs +1 more)
Microsatellite
(frameshift variant +3 more)
Lynch syndrome 1
GPathogenic
MSH2
(M12fs +3 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
Microsatellite
(nonsense +2 more)
Lynch syndrome 1
GPathogenic/Likely pathogenic
MSH2
(Y145fs +3 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(L278fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(A337fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(K366fs +8 more)
Insertion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(R33* +2 more)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(P30fs)
Deletion
(frameshift variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic
MSH2
(A100fs +6 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
Deletion
(frameshift variant +2 more)
Lynch syndrome 1
GPathogenic
MSH2
(N340fs +8 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome 1
GPathogenic
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