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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290, RLIG1
(S2472R)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+3 more
GUncertain significance
CEP290, RLIG1
(K2437del)
Microsatellite
(inframe_deletion +1 more)
Nephronophthisis
+8 more
GUncertain significance