"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 260189	NM_012120.3(CD2AP):c.219A>G (p.Glu73=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +3 more	GBenign/Likely benign
Select item 1712388	NM_012120.3(CD2AP):c.297A>G (p.Pro99=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 1712401	NM_012120.3(CD2AP):c.428A>G (p.Glu143Gly)	CD2AP (E143G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712402	NM_012120.3(CD2AP):c.429A>C (p.Glu143Asp)	CD2AP (E143D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 260191	NM_012120.3(CD2AP):c.696C>T (p.Ser232=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +3 more	GBenign/Likely benign
Select item 260180	NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala)	CD2AP (T374A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1712398	NM_012120.3(CD2AP):c.1471G>A (p.Ala491Thr)	CD2AP (A491T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357176	NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del)	CD2AP (E525del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 260186	NM_012120.3(CD2AP):c.1632+8G>T	CD2AP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 260187	NM_012120.3(CD2AP):c.1743T>A (p.Asn581Lys)	CD2AP (N581K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 260188	NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg)	CD2AP (K633R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign