"Genome-Nilou Lab"[submitter] AND "AXDND1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224485	NM_014625.4(NPHS2):c.*258A>G	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 224484	NM_014625.4(NPHS2):c.*200G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 224483	NM_014625.4(NPHS2):c.*157G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 293845	NM_014625.4(NPHS2):c.*54G>C	NPHS2, AXDND1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign
Select item 586184	NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)	AXDND1, NPHS2 (N355S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 260425	NM_014625.4(NPHS2):c.1038A>G (p.Leu346=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign/Likely benign
Select item 1068472	NM_014625.4(NPHS2):c.1032del (p.Phe344fs)	AXDND1, NPHS2 (F276fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1303204	NM_014625.4(NPHS2):c.983A>G (p.Gln328Arg)	AXDND1, NPHS2 (Q260R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
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 260432	NM_014625.4(NPHS2):c.954C>T (p.Ala318=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign
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 716056	NM_014625.4(NPHS2):c.891G>A (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
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 752488	NM_014625.4(NPHS2):c.885A>G (p.Ala295=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 260430	NM_014625.4(NPHS2):c.873+7A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 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 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 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 586186	NM_014625.4(NPHS2):c.852G>A (p.Ala284=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +1 more	GLikely benign
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

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Items: 26