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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A4
(G1465D)
Single nucleotide variant
(missense variant)
Hypertensive disorder
+8 more
GConflicting classifications of pathogenicity
COL4A4
(G774R)
Single nucleotide variant
(missense variant)
Hematuria
+8 more
GConflicting classifications of pathogenicity
COL4A4
Duplication
(intron variant)
Benign familial hematuria
+1 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(R1450fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
COL4A3, MFF-DT
(R1516Q)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+1 more
GUncertain significance
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