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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
ADAMTS3, AFM
+166 more
Copy number gain
See cases
GPathogenic
ALB
(V78fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ALB
(R138*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ALB
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ALB
(R242H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
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