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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAD51
(Q114E)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group R
GUncertain significance
RAD51
(T197I +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group R
GLikely pathogenic
RAD51
(I292del +1 more)
Microsatellite
(inframe_deletion +1 more)
Fanconi anemia complementation group R
GLikely pathogenic
RAD51
(T131P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RAD51
(E258K +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group R
GLikely pathogenic
RAD51
(A293T +1 more)
Single nucleotide variant
(missense variant +1 more)
RAD51-related disorder
+1 more
GPathogenic/Likely pathogenic
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