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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AVPR2
(C112F)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
GLikely pathogenic
ABCD1, ADGRG4
+160 more
Copy number gain
not provided
GPathogenic