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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A4
(P1572L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(splice acceptor variant)
COL4A4-related disorder
+3 more
GLikely pathogenic