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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712414	NM_007366.5(PLA2R1):c.3857_3861del (p.Asn1286fs)	PLA2R1 (N1286fs)	Deletion (frameshift variant)	Kidney disorder	GUncertain significance
Select item 1712479	NM_007366.5(PLA2R1):c.3570C>T (p.Gly1190=)	PLA2R1	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712437	NM_007366.5(PLA2R1):c.3316G>A (p.Gly1106Ser)	PLA2R1 (G1106S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712476	NM_007366.5(PLA2R1):c.2096G>A (p.Cys699Tyr)	PLA2R1 (C699Y)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712458	NM_007366.5(PLA2R1):c.1957del (p.Ala653fs)	PLA2R1 (A653fs)	Deletion (frameshift variant)	Kidney disorder	GBenign
Select item 1712390	NM_007366.5(PLA2R1):c.1956A>C (p.Lys652Asn)	PLA2R1 (K652N)	Single nucleotide variant (missense variant)	Kidney disorder	GBenign
Select item 1712438	NM_007366.5(PLA2R1):c.898C>G (p.His300Asp)	PLA2R1 (H300D)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712439	NM_007366.5(PLA2R1):c.874A>G (p.Met292Val)	PLA2R1 (M292V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712356	NM_007366.5(PLA2R1):c.816T>C (p.Asp272=)	PLA2R1	Single nucleotide variant (synonymous variant)	Kidney disorder	GLikely benign
Select item 1712357	NM_007366.5(PLA2R1):c.425G>A (p.Arg142Gln)	PLA2R1 (R142Q)	Single nucleotide variant (missense variant)	Kidney disorder	GLikely benign
Select item 1712351	NM_007366.5(PLA2R1):c.86C>G (p.Pro29Arg)	PLA2R1 (P29R)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GUncertain significance
Select item 1712473	NM_007366.5(PLA2R1):c.-127del	PLA2R1	Deletion (5 prime UTR variant)	Kidney disorder	GLikely benign