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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCBD1
(E97K +1 more)
Single nucleotide variant
(missense variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely pathogenic
PCBD1
(N71del +1 more)
Microsatellite
(inframe_deletion)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Gnot provided
PCBD1
(L16fs)
Deletion
(frameshift variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GPathogenic
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