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Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNT12
(D409V)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(E248Q)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(V209M)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(L449P)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(T5M)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(V140A)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(N122S)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(W2C)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(A316T)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(P439fs)
Deletion
(frameshift variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(R297P)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
Single nucleotide variant
(intron variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(L153F)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12, LOC130002222
(R18W)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(M518T)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(L238R)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(R4fs)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
GALNT12
(G207C)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
Single nucleotide variant
(intron variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(M388I)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
Deletion
(splice donor variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(A45fs)
Deletion
(frameshift variant)
Colorectal cancer, susceptibility to, 1
GUncertain significance
GALNT12
(R110C)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+1 more
GUncertain significance
GALNT12
(E542*)
Single nucleotide variant
(nonsense)
Colorectal cancer, susceptibility to, 1
+1 more
GUncertain significance
GALNT12, LOC130002222
(R18G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R8P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(C358G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(T355I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
GALNT12
(D514N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(P50L)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(R345S)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+1 more
GUncertain significance
GALNT12
(Q473*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(P463A)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+1 more
GUncertain significance
GALNT12
(P443L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
GALNT12
(H437Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12, LOC130002222
(L33P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
GALNT12
(V317L)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+1 more
GUncertain significance
GALNT12
(G221A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
GALNT12
(R210Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
GALNT12
(R201C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(T162I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(V159I)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(E522*)
Single nucleotide variant
(nonsense)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(N270S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALNT12
(P164L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(Y498C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(I260M)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(C358Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R417W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(D514V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALNT12
(V253A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12, LOC130002222
(L22F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(V259G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R154Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(S250L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(P301S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(Y328C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(C229S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(G277S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(W262R)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+1 more
GUncertain significance
GALNT12
(P255L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(A211T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R201H)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+1 more
GUncertain significance
GALNT12
(R201G)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(E170del)
Microsatellite
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(S158G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(A148S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R116del)
Microsatellite
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
GALNT12
(P11L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(S300F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(Q299*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R295G)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(V284M)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(R373H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(P370S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(E341K)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(R8W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R67W)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(M580I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
GALNT12
(N528S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(P52L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R497C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(E489K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(Y461C)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
GALNT12
(C422F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(R4H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALNT12
(G350R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12, LOC130002222
(S35L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(A47T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R110L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(P71L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(P406T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(R382H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(N203K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(E239Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
(G447R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
GALNT12
(R110H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
GALNT12
(V290F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
GALNT12
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
GALNT12
(M482I)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 1
+2 more
GUncertain significance
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