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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A4
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
COL4A4
(S969*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
+3 more
GPathogenic
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
+3 more
GConflicting classifications of pathogenicity
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