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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MLH1
Single nucleotide variant
Lynch syndrome
GBenign
MLH1
Single nucleotide variant
(genic upstream transcript variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
MLH1
(R18H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MLH1
(G22A)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(A31T)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GUncertain significance
MLH1
(A31C)
Indel
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
MLH1
(Q62R)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GLikely pathogenic
MLH1
(V76I)
Single nucleotide variant
(missense variant +2 more)
not specified
+8 more
GUncertain significance
MLH1
(C77G)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GUncertain significance
MLH1
(T81S)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MLH1
(R100Q +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+7 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GLikely benign
MLH1
(T116K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GLikely benign
MLH1
(V152I +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome 1
GBenign
MLH1
Single nucleotide variant
(splice acceptor variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GPathogenic/Likely pathogenic
MLH1
Single nucleotide variant
(splice acceptor variant)
Lynch syndrome
GLikely pathogenic
MLH1
(R217H +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MLH1
(M242I +3 more)
Single nucleotide variant
(missense variant +3 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GUncertain significance
MLH1
(R240fs +3 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
MLH1
(K274R +3 more)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 1
+6 more
GUncertain significance
MLH1
(A282T +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MLH1
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic/Likely pathogenic
MLH1
(E319K +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+8 more
GConflicting classifications of pathogenicity
MLH1
(N338S +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+9 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MLH1
(G351R +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MLH1
(G373R +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
MLH1
(G373E +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
MLH1
(V384D +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MLH1
(R385C +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+10 more
GConflicting classifications of pathogenicity
MLH1
(R385H +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+7 more
GConflicting classifications of pathogenicity
MLH1
(R389Q +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+6 more
GConflicting classifications of pathogenicity
MLH1
(S406N +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MLH1
(D415N +5 more)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+6 more
GUncertain significance
MLH1
(E448D +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+6 more
GConflicting classifications of pathogenicity
MLH1
(G454R +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+8 more
GConflicting classifications of pathogenicity
MLH1
(K461* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(R487* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(P496R +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+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
(M524I +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
MLH1
(S577L +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+7 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(synonymous variant)
Lynch syndrome
GPathogenic
MLH1
(S592N +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GUncertain significance
MLH1
(L607H +5 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
MLH1
(K618del +5 more)
Microsatellite
(inframe_indel +2 more)
Lynch syndrome
GPathogenic
MLH1
(K618A +5 more)
Indel
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(K618T +5 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GUncertain significance
MLH1
Single nucleotide variant
(splice acceptor variant +1 more)
Lynch syndrome
GLikely pathogenic
MLH1
(I655V +6 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
MLH1
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GLikely benign
MLH1
(A681T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(A681V +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GPathogenic/Likely pathogenic
MLH1
(R687W +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(Y332* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
MLH1
(Q701K +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
MLH1
(Y721C +8 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
MLH1
(R725H +8 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+7 more
GConflicting classifications of pathogenicity
MLH1
(K751R +8 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
MLH1
(V411L +8 more)
Single nucleotide variant
(missense variant)
Muir-Torré syndrome
+4 more
GUncertain significance
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