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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, MFF-DT
(E69*)
Single nucleotide variant
(nonsense)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G392E)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G470E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G994D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(E1407*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
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