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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, MFF-DT
(P574L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
COL4A3, MFF-DT
(G631V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MFF-DT, COL4A3
(R1661C)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+5 more
GConflicting classifications of pathogenicity
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