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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MLH1
(M1T)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 1
GPathogenic
MLH1
(D12E)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+3 more
GUncertain significance
MLH1
Deletion
(splice acceptor variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(N64S)
Single nucleotide variant
(missense variant +2 more)
not provided
+9 more
GConflicting classifications of pathogenicity
MLH1
(R226* +2 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MLH1
(Q391* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(R472fs +5 more)
Microsatellite
(frameshift variant)
Lynch syndrome
GPathogenic
MLH1
(M481V +5 more)
Single nucleotide variant
(missense variant)
Ovarian cancer
+4 more
GConflicting classifications of pathogenicity
MLH1
(R487* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Single nucleotide variant
(splice donor variant +1 more)
Lynch syndrome
GLikely pathogenic
MLH1
(F298V +6 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(A681T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(Q701H +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(V720G +8 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+3 more
GConflicting classifications of pathogenicity
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