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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAD50
(V12L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
RAD50
(I94T)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
+3 more
GUncertain significance
RAD50
(T109fs)
Deletion
(frameshift variant)
Nijmegen breakage syndrome-like disorder
+2 more
GConflicting classifications of pathogenicity
RAD50
(R193Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
RAD50
(R196H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
RAD50
(A232D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RAD50
(L262R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RAD50
(R327H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RAD50
(R365Q)
Single nucleotide variant
(missense variant)
RAD50-related disorder
+7 more
GConflicting classifications of pathogenicity
RAD50
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50
(Q426R)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
+3 more
GConflicting classifications of pathogenicity
RAD50
(L477M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
RAD50
(R535H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
RAD50
(I555V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RAD50
(S560R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
RAD50
(Y625*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
RAD50
(E723fs)
Duplication
(frameshift variant)
Nijmegen breakage syndrome-like disorder
+2 more
GPathogenic
RAD50
(R726H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
RAD50
(L754fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RAD50
(R763H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
RAD50
(E831G)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
+2 more
GUncertain significance
RAD50
(N868K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
RAD50
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RAD50
(E1035*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RAD50, TH2-LCR
+1 more
(R1185Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
RAD50, TH2LCRR
Duplication
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50, TH2LCRR
(R1260H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
RAD50, TH2LCRR
(N1310S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
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