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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A5
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
COL4A5
(G295D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A5
(G624D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
+4 more
GPathogenic/Likely pathogenic
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