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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN5
Deletion
(frameshift variant)
Hyperkalemia
+2 more
GLikely pathogenic
COL4A4
(E1019Q)
Single nucleotide variant
(missense variant)
Hypertensive disorder
+3 more
GUncertain significance
COL4A4
Single nucleotide variant
(intron variant)
Alport syndrome
+6 more
GConflicting classifications of pathogenicity
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