"Baylor Genetics"[submitter] AND "AXDND1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677349	NM_014625.4(NPHS2):c.1049del (p.Leu350fs)	AXDND1, NPHS2 (L282fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677343	NM_014625.4(NPHS2):c.969C>A (p.Tyr323Ter)	NPHS2, AXDND1 (Y255* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 555850	NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)	AXDND1, NPHS2 (R322Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GConflicting classifications of pathogenicity
Select item 371673	NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)	NPHS2, AXDND1 (R322* +1 more)	Single nucleotide variant (nonsense +1 more)	Idiopathic nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 188990	NM_014625.4(NPHS2):c.948del (p.Ala317fs)	AXDND1, NPHS2 (A317fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1491797	NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)	AXDND1, NPHS2 (E242K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2677348	NM_014625.4(NPHS2):c.896del (p.Lys299fs)	AXDND1, NPHS2 (K231fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2202887	NM_014625.4(NPHS2):c.883G>A (p.Ala295Thr)	AXDND1, NPHS2 (A295T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 552789	NM_014625.4(NPHS2):c.874-2A>C	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1409729	NM_014625.4(NPHS2):c.873+1G>T	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5369	NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	AXDND1, NPHS2 (R291W +1 more)	Single nucleotide variant (missense variant +1 more)	Steroid-resistant nephrotic syndrome +3 more	GPathogenic/Likely pathogenic
Select item 126418	NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	AXDND1, NPHS2 (V290M +1 more)	Single nucleotide variant (missense variant +1 more)	NPHS2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 556281	NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)	AXDND1, NPHS2 (A288T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 3239975	NM_014625.4(NPHS2):c.853C>T (p.Gln285Ter)	AXDND1, NPHS2 (Q217* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 562398	NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	AXDND1, NPHS2 (A284V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 370486	NM_014625.4(NPHS2):c.795-1G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677342	NM_014625.4(NPHS2):c.795-2A>C	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 447883	NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	AXDND1, NPHS2 (E264Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 447882	NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)	AXDND1, NPHS2 (V260E +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 1075584	NM_014625.4(NPHS2):c.768G>A (p.Trp256Ter)	AXDND1, NPHS2 (W188* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic

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Items: 22