U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MLH1
(S234G +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MSH2
(R153fs +1 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
MLH1
(R217S +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PMS2
(H201fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GPathogenic
PMS2
(W530fs +9 more)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
PMS2
(P221L +3 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH6
(L1150F +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+4 more
GUncertain significance
PMS2
(P338A +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MLH1
(T270A +3 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+5 more
GConflicting classifications of pathogenicity
MSH6
(R302K +7 more)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
+3 more
GConflicting classifications of pathogenicity
MSH6
(E442fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
+7 more
GPathogenic/Likely pathogenic
MLH1
(R497W +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
(V415M +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GConflicting classifications of pathogenicity
PMS2
(L856R +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(L420fs +7 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
MSH2
(C333Y +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GPathogenic
MLH1
(R100Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+7 more
GUncertain significance
MSH6
(R468C +2 more)
Single nucleotide variant
(missense variant)
MSH6-related disorder
+6 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination