Related gene-specific medical variations for Gene (Select 7827) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349861	NM_014625.4(NPHS2):c.824dup (p.His276fs)	AXDND1, NPHS2 (H208fs +1 more)	Duplication (frameshift variant +1 more)	NPHS2-related disorder	GPathogenic
Select item 3346051	NM_014625.4(NPHS2):c.965G>T (p.Arg322Leu)	AXDND1, NPHS2 (R254L +1 more)	Single nucleotide variant (missense variant +1 more)	NPHS2-related disorder	GUncertain significance
Select item 3339868	NM_014625.4(NPHS2):c.799G>T (p.Asp267Tyr)	AXDND1, NPHS2 (D199Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247989	NC_000001.10:g.(?_179530415)_(179537345_?)del	NPHS2	Deletion	not provided	GPathogenic
Select item 3247988	NC_000001.10:g.(?_179533805)_(179533948_?)del	NPHS2	Deletion	not provided	GPathogenic
Select item 3239976	NM_014625.4(NPHS2):c.50del (p.Gly17fs)	NPHS2 (G17fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely 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 3239974	NM_014625.4(NPHS2):c.298del (p.Ala100fs)	NPHS2 (A100fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 3239973	NM_014625.4(NPHS2):c.358T>C (p.Ser120Pro)	NPHS2 (S120P)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 3239972	NM_014625.4(NPHS2):c.104_126dup (p.Pro43fs)	NPHS2 (P43fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GPathogenic
Select item 3239971	NM_014625.4(NPHS2):c.579C>A (p.Cys193Ter)	NPHS2 (C193*)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 3064145	NM_014625.4(NPHS2):c.413G>C (p.Arg138Pro)	NPHS2 (R138P)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2994526	NM_014625.4(NPHS2):c.794+18T>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 2976647	NM_014625.4(NPHS2):c.794+20G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955449	NM_014625.4(NPHS2):c.873+10C>A	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 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 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 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 2883744	NM_014625.4(NPHS2):c.865A>G (p.Lys289Glu)	AXDND1, NPHS2 (K289E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 2872994	NM_014625.4(NPHS2):c.739-20C>T	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +2 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 2852356	NM_014625.4(NPHS2):c.873+8C>T	NPHS2, AXDND1	Single nucleotide variant (intron variant)	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 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 2830307	NM_014625.4(NPHS2):c.739-7T>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +2 more)	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 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 2803339	NM_014625.4(NPHS2):c.739-9T>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2794168	NM_014625.4(NPHS2):c.874-16G>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	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 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 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 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 2733808	NM_014625.4(NPHS2):c.794+19A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2677354	NM_014625.4(NPHS2):c.468dup (p.Pro157fs)	NPHS2 (P157fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677353	NM_014625.4(NPHS2):c.379del	NPHS2	Deletion	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677352	NM_014625.4(NPHS2):c.459_463del (p.Phe155fs)	NPHS2 (F155fs)	Microsatellite (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677351	NM_014625.4(NPHS2):c.535-1G>C	NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677350	NM_014625.4(NPHS2):c.63dup (p.Lys22fs)	NPHS2 (K22fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
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 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 2677347	NM_014625.4(NPHS2):c.31del (p.Glu11fs)	NPHS2 (E11fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677346	NM_014625.4(NPHS2):c.274+1G>T	NPHS2	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677344	NM_014625.4(NPHS2):c.451+1G>C	NPHS2	Single nucleotide variant (splice donor variant)	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 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 2677341	NM_014625.4(NPHS2):c.593A>C (p.Glu198Ala)	NPHS2 (E198A)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2577104	NM_014625.4(NPHS2):c.802G>A (p.Val268Met)	AXDND1, NPHS2 (V200M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2434420	NM_014625.4(NPHS2):c.807G>T (p.Arg269Ser)	AXDND1, NPHS2 (R201S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 2269175	NM_014625.4(NPHS2):c.975C>A (p.His325Gln)	AXDND1, NPHS2 (H325Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2199406	NM_014625.4(NPHS2):c.874-16G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	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 2095231	NM_014625.4(NPHS2):c.873+9T>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	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 2074333	NM_014625.4(NPHS2):c.794+9G>C	AXDND1, NPHS2	Single nucleotide variant (intron variant)	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)	not provided	GUncertain significance
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 2029540	NM_014625.4(NPHS2):c.783G>A (p.Glu261=)	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 2018485	NM_014625.4(NPHS2):c.739-1G>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
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 2013930	NM_014625.4(NPHS2):c.874-4C>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	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 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 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 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 1806993	NM_014625.4(NPHS2):c.264del (p.Glu90fs)	NPHS2 (E90fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1724745	NM_014625.4(NPHS2):c.784A>T (p.Arg262Ter)	AXDND1, NPHS2 (R194* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1712399	NM_014625.4(NPHS2):c.947C>G (p.Pro316Arg)	AXDND1, NPHS2 (P248R +1 more)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1684962	NM_014625.4(NPHS2):c.938C>T (p.Ser313Leu)	AXDND1, NPHS2 (S245L +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 1665260	NM_014625.4(NPHS2):c.794+7A>G	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 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 1626683	NM_014625.4(NPHS2):c.794+9G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	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 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 1600263	NM_014625.4(NPHS2):c.874-5del	AXDND1, NPHS2	Deletion (intron variant)	not provided	GBenign
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 1582498	NM_014625.4(NPHS2):c.756G>T (p.Val252=)	AXDND1, NPHS2 (H1012N)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1567650	NM_014625.4(NPHS2):c.771A>C (p.Gly257=)	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 1550659	NM_014625.4(NPHS2):c.873+20A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 1344843	NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs)	AXDND1, NPHS2 (S286fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome	GLikely pathogenic
Select item 1344840	NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome	GLikely pathogenic
Select item 1344835	NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr)	AXDND1, NPHS2 (N306Y +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome	GLikely pathogenic
Select item 1344831	NM_014625.4(NPHS2):c.742G>A (p.Ala248Thr)	AXDND1, NPHS2 (A180T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Nephrotic syndrome	GLikely 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 1294554	NM_014625.4(NPHS2):c.874-205C>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GBenign

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