"Counsyl"[submitter] AND "AXDND1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558528	NM_014625.4(NPHS2):c.1129_1134del (p.Lys377_Lys378del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 370964	NM_014625.4(NPHS2):c.1062dup (p.Asn355fs)	AXDND1, NPHS2 (N287fs +1 more)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 558139	NM_014625.4(NPHS2):c.1012_1023del (p.Val338_Pro341del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 556375	NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)	AXDND1, NPHS2 (L327F +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
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 551821	NM_014625.4(NPHS2):c.934C>G (p.Leu312Val)	AXDND1, NPHS2 (L312V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 370718	NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	AXDND1, NPHS2 (A297V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 552959	NM_014625.4(NPHS2):c.874-1G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
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 552884	NM_014625.4(NPHS2):c.873+2T>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555445	NM_014625.4(NPHS2):c.873+1G>A	AXDND1, NPHS2	Single nucleotide variant (splice donor variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 555901	NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln)	AXDND1, NPHS2 (R291Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 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 371301	NM_014625.4(NPHS2):c.859C>T (p.Gln287Ter)	AXDND1, NPHS2 (Q287* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 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 550271	NM_014625.4(NPHS2):c.795-12T>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2	GUncertain significance
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 551436	NM_014625.4(NPHS2):c.770G>A (p.Gly257Glu)	AXDND1, NPHS2 (G257E +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance

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Items: 22