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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Nijmegen breakage syndrome-like disorder
+2 more
GUncertain significance
RAD50, TH2LCRR
(N1310S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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