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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, LOC111674477
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LOC111674477, CFTR
(R1453W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFTR, LOC111674477
(S1455*)
Single nucleotide variant
(nonsense)
Congenital bilateral aplasia of vas deferens from CFTR mutation
+3 more
GConflicting classifications of pathogenicity
CFTR, LOC111674477
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
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