C0403397[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188823	NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	AXDND1, NPHS2 (R286fs +1 more)	Deletion (frameshift variant +1 more)	Focal segmental glomerulosclerosis +3 more	GPathogenic/Likely pathogenic
Select item 5360	NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	NPHS2 (R138Q)	Single nucleotide variant (missense variant)	Chronic kidney disease +3 more	GPathogenic/Likely pathogenic
Select item 180700	NM_173689.7(CRB2):c.1882C>T (p.Arg628Cys)	CRB2 (R628C)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9 +1 more	GPathogenic/Likely pathogenic
Select item 180701	NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)	CRB2 (G1036fs)	Duplication (frameshift variant +1 more)	CRB2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 3487	NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	WT1 (R250W +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 56507	NM_004646.4(NPHS1):c.500C>T (p.Pro167Leu)	NPHS1 (P167L)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +3 more	GLikely pathogenic
Select item 277678	NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	APOL1 (S358G +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 127198	NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)	APOL1 (I400M +2 more)	Single nucleotide variant (missense variant)	APOL1-associated kidney disease +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 812906	NM_033380.3(COL4A5):c.674C>T (p.Pro225Leu)	COL4A5 (P225L)	Single nucleotide variant (missense variant)	Steroid-resistant nephrotic syndrome	GLikely pathogenic