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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ6, ENTPD5
(R190W +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GUncertain significance
COQ6, ENTPD5
(P261L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic