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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
PIK3CG
(R359H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIK3CG
(F832L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CFTR
(R153K)
Single nucleotide variant
(missense variant)
CFTR-related condition
+6 more
GConflicting classifications of pathogenicity
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(N1303K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
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