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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAD50
(M1I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50
(T44S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
RAD50
Single nucleotide variant
(splice donor variant)
Nijmegen breakage syndrome-like disorder
+1 more
GPathogenic/Likely pathogenic
RAD50
(R87H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
RAD50
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
RAD50
(Q392fs)
Deletion
(frameshift variant)
Nijmegen breakage syndrome-like disorder
+1 more
GPathogenic/Likely pathogenic
RAD50
(L424fs)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50
(Q465*)
Single nucleotide variant
(nonsense)
Nijmegen breakage syndrome-like disorder
+1 more
GPathogenic
RAD50
(L541fs)
Insertion
(frameshift variant)
Nijmegen breakage syndrome-like disorder
+1 more
GPathogenic/Likely pathogenic
RAD50
Deletion
(splice donor variant)
Nijmegen breakage syndrome-like disorder
+1 more
GConflicting classifications of pathogenicity
RAD50
(Q575fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
RAD50
(Y625*)
Single nucleotide variant
(nonsense)
Nijmegen breakage syndrome-like disorder
+2 more
GPathogenic
RAD50
(S653*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
RAD50
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50
(E723fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
RAD50
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RAD50
(Q799*)
Single nucleotide variant
(nonsense)
Nijmegen breakage syndrome-like disorder
+1 more
GPathogenic
RAD50
(G818R)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
GUncertain significance
RAD50
(R823*)
Single nucleotide variant
(nonsense)
Nijmegen breakage syndrome-like disorder
+1 more
GPathogenic/Likely pathogenic
RAD50
(R823Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
RAD50
(K874*)
Single nucleotide variant
(nonsense)
Nijmegen breakage syndrome-like disorder
+1 more
GPathogenic
RAD50
(Q924*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
RAD50
(I930fs)
Deletion
(frameshift variant)
Nijmegen breakage syndrome-like disorder
+2 more
GPathogenic/Likely pathogenic
RAD50
(E962*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50
(Q1019E)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
GUncertain significance
RAD50
(I1085V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
RAD50
(R1093*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
RAD50, TH2-LCR
+1 more
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD50, TH2-LCR
+1 more
(R1200*)
Single nucleotide variant
(nonsense +1 more)
Nijmegen breakage syndrome-like disorder
+1 more
GPathogenic/Likely pathogenic
RAD50, TH2-LCR
+1 more
(R1239Q)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
+1 more
GUncertain significance
RAD50, TH2-LCR
+1 more
(S1255fs)
Deletion
(frameshift variant)
Nijmegen breakage syndrome-like disorder
+1 more
GConflicting classifications of pathogenicity
RAD50, TH2LCRR
(K1301R)
Single nucleotide variant
(missense variant)
Ovarian cancer
+3 more
GConflicting classifications of pathogenicity
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