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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XK
(R222*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic