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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCC, AOPEP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
AOPEP, FANCC
(D195V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
AOPEP, FANCC
(R179*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+3 more
GPathogenic/Likely pathogenic
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