"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 875708	NM_172351.3(CD46):c.38C>T (p.Ser13Phe)	CD46, LOC129932405 (S13F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1712459	NM_172351.3(CD46):c.83del (p.Leu28fs)	CD46, LOC129932405 (L28fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 1698741	NM_172351.3(CD46):c.191G>T (p.Cys64Phe)	CD46 (C64F)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +2 more	GUncertain significance
Select item 875710	NM_172351.3(CD46):c.285T>C (p.Tyr95=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +2 more	GConflicting classifications of pathogenicity
Select item 522216	NM_172351.3(CD46):c.417A>G (p.Leu139=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +3 more	GBenign/Likely benign
Select item 876703	NM_172351.3(CD46):c.453C>T (p.Ser151=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GBenign
Select item 294969	NM_172351.3(CD46):c.574G>C (p.Asp192His)	CD46 (D192H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 791827	NM_172351.3(CD46):c.796G>A (p.Asp266Asn)	CD46 (D266N)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 791828	NM_172351.3(CD46):c.861G>A (p.Ser287=)	CD46	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +3 more	GBenign/Likely benign
Select item 294975	NM_172351.3(CD46):c.1013C>T (p.Ala338Val)	CD46 (A353V +4 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GBenign/Likely benign
Select item 294976	NM_172351.3(CD46):c.1083-10C>T	CD46	Single nucleotide variant (intron variant)	not provided +2 more	GBenign