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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDC73
(K16R)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+2 more
GUncertain significance
CDC73
(G100S)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
+1 more
GUncertain significance
CDC73
(I116M)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
+2 more
GUncertain significance
CDC73
(E130K)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
GUncertain significance
CDC73
(P138T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CDC73
Single nucleotide variant
(intron variant)
Parathyroid carcinoma
+1 more
GConflicting classifications of pathogenicity
CDC73
(S174fs)
Deletion
(frameshift variant)
Hyperparathyroidism 1
GPathogenic
CDC73
(K209fs)
Deletion
(frameshift variant)
Parathyroid carcinoma
+1 more
GPathogenic
CDC73
(R227K)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+3 more
GConflicting classifications of pathogenicity
CDC73
(R229*)
Single nucleotide variant
(nonsense)
Hyperparathyroidism 1
+1 more
GPathogenic
CDC73
(I237T)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
GUncertain significance
CDC73
(N244S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CDC73
(F250L)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
GUncertain significance
CDC73
(I252V)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
+2 more
GUncertain significance
CDC73
(Q254H)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
GUncertain significance
CDC73
(R263C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDC73
(R268*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CDC73
(R268Q)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+3 more
GUncertain significance
CDC73
(A273V)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+1 more
GUncertain significance
CDC73
(R281H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CDC73
(T282A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CDC73
(K283E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
B3GALT2, CDC73
(R419C)
Single nucleotide variant
(missense variant +1 more)
Hyperparathyroidism 1
GUncertain significance
CDC73
(R330Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CDC73
(P335S)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+1 more
GUncertain significance
CDC73
(A337T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CDC73
(V340I)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
+3 more
GUncertain significance
CDC73
(T368I)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+1 more
GUncertain significance
CDC73
(D379N)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
+2 more
GUncertain significance
CDC73
(D379E)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CDC73
(D383E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CDC73
(Q398K)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
+1 more
GUncertain significance
CDC73
(E400D)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+1 more
GUncertain significance
CDC73
(M412I)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 2 with jaw tumors
+4 more
GConflicting classifications of pathogenicity
CDC73
(T417A)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+2 more
GUncertain significance
CDC73
(I419V)
Single nucleotide variant
(missense variant)
Parathyroid carcinoma
+2 more
GUncertain significance
CDC73
(M435T)
Single nucleotide variant
(missense variant)
Ovarian cancer
+5 more
GConflicting classifications of pathogenicity
CDC73
(V445I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
CDC73
(P462S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDC73
(V496I)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 1
+1 more
GUncertain significance
CDC73
(R513W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CDC73
(R513Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CDC73
(H525Q)
Single nucleotide variant
(missense variant)
Hyperparathyroidism 2 with jaw tumors
+3 more
GUncertain significance
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