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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MLH1
(F3L)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome 1
GUncertain significance
MLH1
(N209S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MLH1
(P309S +3 more)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GConflicting classifications of pathogenicity
MLH1
(K19E +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MLH1
(R385H +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+7 more
GConflicting classifications of pathogenicity
MLH1
(R389W +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+4 more
GUncertain significance
MLH1
(R389Q +5 more)
Single nucleotide variant
(missense variant)
Mismatch repair cancer syndrome 1
+7 more
GConflicting classifications of pathogenicity
MLH1
(K461* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(R474G +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MLH1
(T545A +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
+4 more
GConflicting classifications of pathogenicity
MLH1
(K618A +5 more)
Indel
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(R687W +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(R687Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MLH1
(T696I +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MLH1
(D748H +8 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
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