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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(G249C +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
MSH2
(R148fs +1 more)
Insertion
(frameshift variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic/Likely pathogenic
MSH2
(Y497C +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MSH2
(A623T +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+4 more
GConflicting classifications of pathogenicity
MSH2
(S15N +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome 1
+5 more
GLikely benign
MSH2
(M485T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MSH2
(S554N +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
MSH2
(N331S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MSH2
(R631K +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MSH2
(E452K +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH2
Deletion
Lynch syndrome
GPathogenic
MSH2
(S494P +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH2
(T754S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MSH2
(Q170E +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
MSH2
(T754A +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+5 more
GConflicting classifications of pathogenicity
MSH2
(G25C)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MSH2
Single nucleotide variant
MSH2-related condition
+6 more
GUncertain significance
MSH2
(A189G +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH2
(E643K +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+7 more
GConflicting classifications of pathogenicity
MSH2
(E56K)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH2
(N74H +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
MSH2
(G204R +1 more)
Single nucleotide variant
(missense variant)
Muir-Torré syndrome
+5 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)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH2
(Q215* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(I169V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
MSH2
(L94del +1 more)
Microsatellite
(inframe_deletion)
Lynch syndrome
GBenign
MSH2
(T8M)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MSH2
Single nucleotide variant
(intron variant)
Mismatch repair cancer syndrome 2
GPathogenic
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
(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 acceptor variant +1 more)
Lynch syndrome
GPathogenic
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
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GLikely pathogenic
MSH2
(Q419K +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
MSH2
(R389* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(N127S +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MSH2
Single nucleotide variant
(synonymous variant)
Lynch syndrome
GBenign
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MSH2
(M86fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
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