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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAD50
(R224H)
Single nucleotide variant
(missense variant)
RAD50-related condition
+4 more
GConflicting classifications of pathogenicity
RAD50
(A512S)
Single nucleotide variant
(missense variant)
RAD50-related condition
+4 more
GConflicting classifications of pathogenicity
RAD50
Single nucleotide variant
(synonymous variant)
RAD50-related condition
+4 more
GBenign/Likely benign
TH2LCRR, RAD50
+1 more
(R1185*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
RAD50, TH2LCRR
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
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