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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(Y43F)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MSH2
(Q61*)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MSH2
(L128V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+6 more
GConflicting classifications of pathogenicity
MSH2
(K248R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome 1
GPathogenic
MSH2
(I633T +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+5 more
GConflicting classifications of pathogenicity
MSH2
(V722I +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MSH2
(E809K +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MSH2
(H839D +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MSH6
(R302K +7 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MSH6
(Y366C +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GConflicting classifications of pathogenicity
MSH6
(A494S +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MSH6
(K692R +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MSH6
(V890F +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 5
+7 more
GConflicting classifications of pathogenicity
MSH6
(T986A +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MSH6
(F958fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(R1242H +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+6 more
GPathogenic/Likely pathogenic
MLH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer
+6 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MLH1
(F156L +2 more)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+3 more
GUncertain significance
MLH1
(E319K +3 more)
Single nucleotide variant
(missense variant +2 more)
Mismatch repair cancer syndrome 1
+8 more
GConflicting classifications of pathogenicity
MLH1
(A608V +5 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GUncertain significance
PMS2
(K519fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary nonpolyposis colon cancer
+6 more
GPathogenic
PMS2
(I476fs +7 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(A572V +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+4 more
GUncertain significance
PMS2
(P338A +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
PMS2
(E308D +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 4
+6 more
GConflicting classifications of pathogenicity
PMS2
Indel
(nonsense +2 more)
Lynch syndrome
GPathogenic
PMS2
(T203S +3 more)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 4
+5 more
GUncertain significance
PMS2
Single nucleotide variant
(splice acceptor variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
PMS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PMS2
(I18V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely benign
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