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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD46, LOC129932405
(S13F)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+2 more
GBenign
CD46, LOC129932405
(L28fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
CD46
(C64F)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+2 more
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+2 more
GConflicting classifications of pathogenicity
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+3 more
GBenign/Likely benign
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
+2 more
GBenign
CD46
(D192H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CD46
(D266N)
Single nucleotide variant
(missense variant)
Kidney disorder
+3 more
GConflicting classifications of pathogenicity
CD46
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+3 more
GBenign/Likely benign
CD46
(A353V +4 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+3 more
GBenign/Likely benign
CD46
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
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