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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A1
(G829C)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
GLikely pathogenic
COL4A1
(G212S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity