C0403399[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281169	NM_001171.6(ABCC6):c.3507-3C>T	ABCC6	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 2 +5 more	GBenign/Likely benign
Select item 6873	NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	NPHS1 (R1160*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 6867	NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)	NPHS1 (R1109*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 259496	NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser)	NPHS1 (N1077S)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +4 more	GBenign
Select item 259489	NM_004646.4(NPHS1):c.2289C>T (p.Val763=)	NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +3 more	GBenign
Select item 259482	NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)	NPHS1 (R408Q)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +4 more	GBenign/Likely benign
Select item 198518	NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)	NPHS1 (P264R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 259500	NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys)	NPHS1 (E117K)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +3 more	GBenign

ClinVar