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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MLH1
(G67R)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GPathogenic
MLH1
(Q86*)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome
GPathogenic
MLH1
(S93G)
Single nucleotide variant
(missense variant +2 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
MLH1
(R100*)
Single nucleotide variant
(nonsense +3 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(synonymous variant +3 more)
Lynch syndrome
GLikely benign
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GLikely pathogenic
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
MLH1
(R217C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
MLH1
(I219V +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(R226* +2 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MLH1
(N248S +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MLH1
(E319K +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+9 more
GConflicting classifications of pathogenicity
MLH1
Insertion
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
GBenign
MLH1
Insertion
(intron variant)
Breast carcinoma
+4 more
GBenign/Likely benign
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome 1
GBenign
MLH1
(T347N +4 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
Single nucleotide variant
(synonymous variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GConflicting classifications of pathogenicity
MLH1
(P403S +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MLH1
(E460A +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MLH1
(R487* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(P496L +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MLH1
(T545A +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+7 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MLH1
(K618del +5 more)
Microsatellite
(inframe_deletion +1 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GBenign
MLH1
(R659* +6 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MLH1
(V618M +7 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
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