C0027726[trait identifier] AND "Precision Medicine Center, Zhengzhou U - ClinVar - NCBI

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Items: 14

	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 988133	NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln)	TRPC6 (R215Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 222850	NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)	TRPC6 (R175W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 224964	NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)	NUP93 (G591V +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12 +1 more	GPathogenic/Likely pathogenic
Select item 6873	NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	NPHS1 (R1160*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 974478	NM_024876.4(COQ8B):c.748G>C (p.Asp250His)	COQ8B (D209H +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GConflicting classifications of pathogenicity
Select item 1077028	NM_005560.6(LAMA5):c.9700_9728del (p.Leu3234fs)	LAMA5 (L3234fs)	Deletion (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1077031	NM_005560.6(LAMA5):c.8674C>T (p.Arg2892Cys)	LAMA5 (R2892C)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 1077029	NM_005560.6(LAMA5):c.8488G>A (p.Ala2830Thr)	LAMA5 (A2830T)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1077034	NM_005560.6(LAMA5):c.7051C>T (p.Arg2351Trp)	LAMA5 (R2351W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1077033	NM_005560.6(LAMA5):c.6859C>T (p.Arg2287Cys)	LAMA5 (R2287C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1077030	NM_005560.6(LAMA5):c.5315C>T (p.Thr1772Met)	LAMA5 (T1772M)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1077035	NM_005560.6(LAMA5):c.4315G>A (p.Gly1439Ser)	LAMA5 (G1439S)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1077032	NM_005560.6(LAMA5):c.1538G>A (p.Gly513Glu)	LAMA5 (G513E)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic