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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A1
(G832R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
COL4A1
(G805fs)
Duplication
(frameshift variant)
COL4A1-related disorder
GLikely pathogenic