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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT6B
(Y1117* +7 more)
Single nucleotide variant
(nonsense)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+4 more
GPathogenic
COL4A1
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GPathogenic/Likely pathogenic