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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPINK1
(N34S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity; association; risk factor
SPINK1
Single nucleotide variant
(5 prime UTR variant +1 more)
Tropical pancreatitis
+2 more
GUncertain significance
CFTR
(R117L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CFTR, CFTR-AS1
Deletion
(intron variant)
Congenital bilateral aplasia of vas deferens from CFTR mutation
+6 more
GConflicting classifications of pathogenicity
CFTR
(W1282*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
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