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Items: 4

  • Did you mean: g nie (8 items)
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(F311L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(V754M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+4 more
GConflicting classifications of pathogenicity
CFTR
Deletion
Cystic fibrosis
GPathogenic
CHST6
(L152P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
  • Did you mean: g nie (8 items)
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