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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AOPEP, FANCC
(L554P)
Single nucleotide variant
(missense variant)
FANCC-related condition
+4 more
GPathogenic/Likely pathogenic
AOPEP, FANCC
(R548*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
FANCC
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
FANCC
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
FANCC
(D23fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
FANCC
(Q13*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
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