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Links from MedGen

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRRFIP2, MLH1
Deletion
Colorectal cancer, hereditary nonpolyposis, type 2
GLikely pathogenic
MLH1
(H112fs +2 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(T357fs +8 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GLikely pathogenic
MLH1
(W356R +5 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(K103fs +5 more)
Indel
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(D116N +2 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(A29V)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(D72V)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(R367fs +8 more)
Duplication
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GLikely pathogenic
MLH1
(M144R +3 more)
Single nucleotide variant
(missense variant +3 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(P223Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(F3L)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(S137C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
MLH1
(A87fs +2 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(T250fs +5 more)
Duplication
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Duplication
(splice donor variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GLikely pathogenic
MLH1
(K136R +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(E37*)
Duplication
(nonsense +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(D266fs +5 more)
Duplication
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(Q86fs)
Deletion
(frameshift variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(T106I +4 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GLikely pathogenic
MLH1
(L163fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic/Likely pathogenic
MLH1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MLH1
(M142R +5 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
Deletion
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(V216I +3 more)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(R129K +2 more)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(A125T +2 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(E255G +5 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(A104G +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MLH1
(N240D +3 more)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(R227G +3 more)
Single nucleotide variant
(missense variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(E274K +5 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GUncertain significance
MLH1
(P235fs +5 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(A265fs +5 more)
Insertion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(A110fs +2 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Duplication
(nonsense +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(L108fs +4 more)
Indel
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(L198fs +3 more)
Indel
(frameshift variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(T145fs +5 more)
Duplication
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(H153fs +2 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(E396* +8 more)
Duplication
(nonsense)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(I19fs)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(S129fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Single nucleotide variant
(splice donor variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(H160fs +5 more)
Duplication
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(E117* +5 more)
Single nucleotide variant
(nonsense)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(P106fs +2 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(R148fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(T194fs +5 more)
Duplication
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(S344fs +8 more)
Duplication
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(M229fs +5 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(F80fs)
Deletion
(frameshift variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Single nucleotide variant
(splice donor variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(H170fs +5 more)
Insertion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic/Likely pathogenic
MLH1
Deletion
(splice donor variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(Y140* +2 more)
Single nucleotide variant
(nonsense +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(A21fs)
Indel
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(K196fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(T176fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(I178fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic/Likely pathogenic
MLH1
(I121fs +2 more)
Duplication
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(H369fs +8 more)
Indel
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Deletion
(nonsense +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(I32fs)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(N193fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(S121fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(H375fs +8 more)
Duplication
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(E293* +6 more)
Single nucleotide variant
(nonsense +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(E262fs +5 more)
Duplication
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(E236fs +5 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
MLH1
(L40fs)
Indel
(frameshift variant +3 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Deletion
(nonsense +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(T195fs +5 more)
Duplication
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(F256fs +5 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic/Likely pathogenic
MLH1
(H112fs +2 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(K751* +8 more)
Single nucleotide variant
(nonsense)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(K107* +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(Y332* +7 more)
Duplication
(nonsense +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Single nucleotide variant
(splice donor variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+2 more
GPathogenic/Likely pathogenic
MLH1
(I148fs +3 more)
Deletion
(frameshift variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(N154fs +2 more)
Duplication
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(L230fs +5 more)
Duplication
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Deletion
(nonsense +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(A21fs)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(K258fs +5 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(R27fs)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(S234fs +3 more)
Deletion
(frameshift variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(Q229* +3 more)
Indel
(nonsense +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(E107fs +5 more)
Insertion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(K52fs)
Deletion
(frameshift variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(C175fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Deletion
(nonsense +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(G65fs)
Duplication
(frameshift variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(Y147* +3 more)
Duplication
(nonsense +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(I178fs +3 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(L388fs +8 more)
Insertion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(E188fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(E165fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(F172fs +5 more)
Deletion
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
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