"Athena Diagnostics"[submitter] AND "AXDND1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 988125	NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro)	AXDND1, NPHS2 (R254P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 447884	NM_014625.4(NPHS2):c.951del (p.Ala318fs)	AXDND1, NPHS2 (A250fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 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
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