"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "AXDND1" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1648585	NM_014625.4(NPHS2):c.1140T>C (p.Ser380=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065715	NM_014625.4(NPHS2):c.1130A>G (p.Lys377Arg)	AXDND1, NPHS2 (K309R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 1446062	NM_014625.4(NPHS2):c.1127A>G (p.Lys376Arg)	AXDND1, NPHS2 (K308R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 734422	NM_014625.4(NPHS2):c.1113G>A (p.Glu371=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813075	NM_014625.4(NPHS2):c.1110T>C (p.Val370=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2882849	NM_014625.4(NPHS2):c.1104A>G (p.Lys368=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1610077	NM_014625.4(NPHS2):c.1086C>T (p.Pro362=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887742	NM_014625.4(NPHS2):c.1083C>G (p.Leu361=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919904	NM_014625.4(NPHS2):c.1083C>T (p.Leu361=)	NPHS2, AXDND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1088176	NM_014625.4(NPHS2):c.1080C>T (p.Ser360=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890387	NM_014625.4(NPHS2):c.1059C>A (p.Pro353=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 765829	NM_014625.4(NPHS2):c.1059C>T (p.Pro353=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2015074	NM_014625.4(NPHS2):c.1047C>T (p.Cys349=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 260425	NM_014625.4(NPHS2):c.1038A>G (p.Leu346=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2032557	NM_014625.4(NPHS2):c.1035C>T (p.Asp345=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 1087885	NM_014625.4(NPHS2):c.1023T>G (p.Pro341=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1565150	NM_014625.4(NPHS2):c.1018T>C (p.Leu340=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1100906	NM_014625.4(NPHS2):c.1008C>T (p.Ser336=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1121091	NM_014625.4(NPHS2):c.990G>A (p.Leu330=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1097703	NM_014625.4(NPHS2):c.990G>T (p.Leu330=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855023	NM_014625.4(NPHS2):c.987T>G (p.Ser329=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1303204	NM_014625.4(NPHS2):c.983A>G (p.Gln328Arg)	AXDND1, NPHS2 (Q260R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2734048	NM_014625.4(NPHS2):c.973C>T (p.His325Tyr)	AXDND1, NPHS2 (H325Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2751297	NM_014625.4(NPHS2):c.966A>G (p.Arg322=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1146580	NM_014625.4(NPHS2):c.966A>T (p.Arg322=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 371673	NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)	NPHS2, AXDND1 (R322* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1572715	NM_014625.4(NPHS2):c.960G>A (p.Gln320=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2098712	NM_014625.4(NPHS2):c.948T>C (p.Pro316=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022762	NM_014625.4(NPHS2):c.948T>A (p.Pro316=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 188990	NM_014625.4(NPHS2):c.948del (p.Ala317fs)	NPHS2, AXDND1 (A317fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2715751	NM_014625.4(NPHS2):c.942C>T (p.Gly314=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2013868	NM_014625.4(NPHS2):c.942C>A (p.Gly314=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1986310	NM_014625.4(NPHS2):c.939A>G (p.Ser313=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2838466	NM_014625.4(NPHS2):c.936G>A (p.Leu312=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1120868	NM_014625.4(NPHS2):c.936G>T (p.Leu312=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1346981	NM_014625.4(NPHS2):c.929A>G (p.Glu310Gly)	AXDND1, NPHS2 (E242G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1491797	NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)	AXDND1, NPHS2 (E242K +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 863810	NM_014625.4(NPHS2):c.928G>T (p.Glu310Ter)	AXDND1, NPHS2 (E242* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1099887	NM_014625.4(NPHS2):c.927T>A (p.Ala309=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1146247	NM_014625.4(NPHS2):c.918G>A (p.Arg306=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2093494	NM_014625.4(NPHS2):c.915G>A (p.Leu305=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776632	NM_014625.4(NPHS2):c.900T>C (p.Ala300=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1085602	NM_014625.4(NPHS2):c.897G>A (p.Lys299=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2708162	NM_014625.4(NPHS2):c.891G>T (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2011314	NM_014625.4(NPHS2):c.891G>C (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716056	NM_014625.4(NPHS2):c.891G>A (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +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 1154180	NM_014625.4(NPHS2):c.885A>C (p.Ala295=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 752488	NM_014625.4(NPHS2):c.885A>G (p.Ala295=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +1 more	GLikely benign
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 1121879	NM_014625.4(NPHS2):c.879T>C (p.Ile293=)	NPHS2, AXDND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 552959	NM_014625.4(NPHS2):c.874-1G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2202888	NM_014625.4(NPHS2):c.874-2A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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 2013930	NM_014625.4(NPHS2):c.874-4C>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600263	NM_014625.4(NPHS2):c.874-5del	AXDND1, NPHS2	Deletion (intron variant)	not provided	GBenign
Select item 1138661	NM_014625.4(NPHS2):c.874-9G>A	NPHS2, AXDND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1117907	NM_014625.4(NPHS2):c.874-10T>C	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293846	NM_014625.4(NPHS2):c.874-11_874-10del	AXDND1, NPHS2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293847	NM_014625.4(NPHS2):c.874-13A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2794168	NM_014625.4(NPHS2):c.874-16G>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2199406	NM_014625.4(NPHS2):c.874-16G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1101754	NM_014625.4(NPHS2):c.874-17C>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550659	NM_014625.4(NPHS2):c.873+20A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 875655	NM_014625.4(NPHS2):c.873+11C>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2955449	NM_014625.4(NPHS2):c.873+10C>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 751059	NM_014625.4(NPHS2):c.873+10C>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2095231	NM_014625.4(NPHS2):c.873+9T>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852356	NM_014625.4(NPHS2):c.873+8C>T	NPHS2, AXDND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260430	NM_014625.4(NPHS2):c.873+7A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +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 1409729	NM_014625.4(NPHS2):c.873+1G>T	NPHS2, AXDND1	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)	not provided +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)	Nephrotic syndrome, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 2883744	NM_014625.4(NPHS2):c.865A>G (p.Lys289Glu)	AXDND1, NPHS2 (K289E +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GLikely 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 759322	NM_014625.4(NPHS2):c.860A>G (p.Gln287Arg)	NPHS2, AXDND1 (Q287R +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)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1112305	NM_014625.4(NPHS2):c.856A>C (p.Arg286=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 188823	NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	AXDND1, NPHS2 (R286fs +1 more)	Deletion (frameshift variant +1 more)	not provided +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)	Idiopathic nephrotic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1158912	NM_014625.4(NPHS2):c.837T>C (p.Ala279=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830810	NM_014625.4(NPHS2):c.834G>A (p.Leu278=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1586470	NM_014625.4(NPHS2):c.822T>A (p.Leu274=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1113555	NM_014625.4(NPHS2):c.807G>A (p.Arg269=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892410	NM_014625.4(NPHS2):c.804G>A (p.Val268=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2749814	NM_014625.4(NPHS2):c.801T>C (p.Asp267=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1625754	NM_014625.4(NPHS2):c.795-9_795-6del	AXDND1, NPHS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1126736	NM_014625.4(NPHS2):c.795-9C>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654701	NM_014625.4(NPHS2):c.795-10T>C	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983779	NM_014625.4(NPHS2):c.795-18G>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825732	NM_014625.4(NPHS2):c.795-19T>G	NPHS2, AXDND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976647	NM_014625.4(NPHS2):c.794+20G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733808	NM_014625.4(NPHS2):c.794+19A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994526	NM_014625.4(NPHS2):c.794+18T>C	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911296	NM_014625.4(NPHS2):c.794+13T>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2074333	NM_014625.4(NPHS2):c.794+9G>C	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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