C0017668[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5370	NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	NPHS2 (R229Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 222684	NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln)	LAMB2 (R561Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GUncertain significance
Select item 156297	NM_000278.5(PAX2):c.76dup (p.Val26fs)	PAX2 (V26fs +1 more)	Duplication (frameshift variant)	Renal coloboma syndrome +2 more	GPathogenic
Select item 180464	NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)	NPHS1 (G601A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180462	NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)	NPHS1 (T537M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180461	NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)	NPHS1 (E447K)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 222760	NM_004646.4(NPHS1):c.528T>C (p.Ser176=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar