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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MLH1
(T82I)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GPathogenic
MLH1
(Q197* +2 more)
Single nucleotide variant
(nonsense +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+3 more
GPathogenic
MLH1
(I219V +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
Microsatellite
(intron variant)
Lynch syndrome
GLikely benign
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome 1
GBenign
MLH1
(A441T +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MLH1
(K461* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(I501del +5 more)
Deletion
(inframe_deletion)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MLH1
(T187fs +5 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
MLH1
(Q562P +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
MLH1
(K618A +5 more)
Indel
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(I655V +6 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
MLH1
(Q689R +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(I450fs +7 more)
Insertion
(frameshift variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic/Likely pathogenic
MLH1
(H718Y +8 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
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