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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCL, VRK2
(T372fs +3 more)
Duplication
(frameshift variant +1 more)
Fanconi anemia
+4 more
GConflicting classifications of pathogenicity
FANCL
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GPathogenic
FANCL
(Q355fs +3 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(M247fs +3 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(S144fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCL
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group L
+1 more
GConflicting classifications of pathogenicity
FANCL
(L90fs)
Deletion
(frameshift variant)
Fanconi anemia
GPathogenic
FANCL
(M1T)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group L
+2 more
GPathogenic/Likely pathogenic
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