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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ6, ENTPD5
(R190L +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GUncertain significance
ABCD4, ACOT2
+38 more
Copy number loss
not provided
GLikely pathogenic