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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P4HB
(S427L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
P4HB
(C400Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
P4HB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
P4HB
(H25Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFMID, ALYREF
+146 more
Copy number gain
not provided
GPathogenic
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