ClinVar (all) for Orgtrack (Select 509339) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637934	NM_024426.6(WT1):c.1321G>T (p.Asp441Tyr)	WT1 (D187Y +10 more)	Single nucleotide variant (missense variant +2 more)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2637933	NM_024426.6(WT1):c.1406A>C (p.Asp469Ala)	WT1 (D215A +11 more)	Single nucleotide variant (missense variant +2 more)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2637932	NM_004646.4(NPHS1):c.3481+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2637931	NM_004646.4(NPHS1):c.2928-3del	NPHS1	Deletion (intron variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 2637930	NM_004646.4(NPHS1):c.67del (p.Gln23fs)	KIRREL2, NPHS1 (Q23fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2637929	NM_004646.4(NPHS1):c.2899G>A (p.Gly967Arg)	NPHS1 (G967R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2637928	NM_004646.4(NPHS1):c.2608_2609dup (p.Asn870fs)	NPHS1 (N870fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2637927	NM_004646.4(NPHS1):c.2021C>T (p.Pro674Leu)	NPHS1 (P674L)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 1389608	NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs)	KIRREL2, NPHS1 (L16fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 1066214	NM_004646.4(NPHS1):c.527-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 554227	NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)	NPHS1 (A1188T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 429811	NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392906	NM_004646.4(NPHS1):c.3481+4A>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 370925	NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)	NPHS1 (W289*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188734	NM_004646.4(NPHS1):c.2335-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188730	NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	NPHS2 (R168H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56495	NM_004646.4(NPHS1):c.320C>T (p.Ala107Val)	NPHS1 (A107V)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 56473	NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	NPHS1 (A806D)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56460	NM_004646.4(NPHS1):c.2071+2T>C	NPHS1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56453	NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	NPHS1 (C623F)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56445	NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	NPHS1 (C567*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56440	NM_004646.4(NPHS1):c.139del (p.Ala47fs)	KIRREL2, NPHS1 (A47fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 56438	NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	NPHS1 (R460Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56437	NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)	NPHS1 (I446N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 56430	NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	NPHS1 (R407W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6867	NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)	NPHS1 (R1109*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 5365	NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)	NPHS2 (P20L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

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Items: 27