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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PORCN
(L84fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PORCN
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PORCN
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
PORCN
(A333T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PORCN
(R360W +4 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PORCN
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
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