ClinVar for MedGen (Select 358380) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3236220	NM_014625.4(NPHS2):c.31dup (p.Glu11fs)	NPHS2 (E11fs)	Duplication (frameshift variant)	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 3061852	NM_014625.4(NPHS2):c.566T>G (p.Ile189Arg)	NPHS2 (I189R)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 2734050	NM_014625.4(NPHS2):c.451+3A>T	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2687477	NM_014625.4(NPHS2):c.336CAT[2] (p.Ile114del)	NPHS2 (I114del)	Microsatellite (inframe_deletion)	Nephrotic syndrome, type 2	GUncertain significance
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 2677345	NM_014625.4(NPHS2):c.293_294del (p.Leu98fs)	NPHS2 (L98fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 2627450	NM_014625.4(NPHS2):c.191_192del (p.Val64fs)	NPHS2 (V64fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2585077	NM_014625.4(NPHS2):c.258_270del (p.Ser86fs)	NPHS2 (S86fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2504588	NM_014625.4(NPHS2):c.122_135dup (p.Ser46fs)	NPHS2 (S46fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
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 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 2183604	NM_014625.4(NPHS2):c.483del (p.Tyr162fs)	NPHS2 (Y162fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2019724	NM_014625.4(NPHS2):c.62_63insG (p.His21fs)	NPHS2 (H21fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1939980	NM_014625.4(NPHS2):c.370T>C (p.Cys124Arg)	NPHS2 (C124R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726960	NM_014625.4(NPHS2):c.410_413del (p.Phe137fs)	NPHS2 (F137fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1726730	NM_014625.4(NPHS2):c.525_527delinsA (p.Phe176fs)	NPHS2 (F176fs)	Indel (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1726015	NM_014625.4(NPHS2):c.244del (p.Ala82fs)	NPHS2 (A82fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1725480	NM_014625.4(NPHS2):c.635_636del (p.Lys212fs)	NPHS2 (K212fs)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	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 1724711	NM_014625.4(NPHS2):c.393T>G (p.Tyr131Ter)	NPHS2 (Y131*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1724688	NM_014625.4(NPHS2):c.528_529del (p.Phe176fs)	NPHS2 (F176fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1687452	NM_014625.4(NPHS2):c.352C>T (p.Pro118Ser)	NPHS2 (P118S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	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 1626132	NM_014625.4(NPHS2):c.534+13A>T	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +1 more	GLikely benign
Select item 1497611	NM_014625.4(NPHS2):c.371G>A (p.Cys124Tyr)	NPHS2 (C124Y)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely 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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1457049	NM_014625.4(NPHS2):c.378+1_378+2delinsTG	NPHS2	Indel (splice donor variant)	not provided +1 more	GPathogenic
Select item 1439693	NM_014625.4(NPHS2):c.506T>C (p.Leu169Pro)	NPHS2 (L169P)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +2 more	GPathogenic
Select item 1428492	NM_014625.4(NPHS2):c.534+5G>A	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +1 more	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 1344816	NM_014625.4(NPHS2):c.397del (p.Arg133fs)	NPHS2 (R133fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1344814	NM_014625.4(NPHS2):c.1A>T (p.Met1Leu)	NPHS2 (M1L)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
Select item 1304552	NM_014625.4(NPHS2):c.419G>A (p.Gly140Glu)	NPHS2 (G140E)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
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 1180467	NM_014625.4(NPHS2):c.452-46C>T	NPHS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1180466	NM_014625.4(NPHS2):c.452-21C>T	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +2 more	GBenign
Select item 1165811	NM_014625.4(NPHS2):c.-116C>T	NPHS2	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign
Select item 1160867	NM_014625.4(NPHS2):c.276T>C (p.Gly92=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1117301	NM_014625.4(NPHS2):c.138G>T (p.Ser46=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1086502	NM_014625.4(NPHS2):c.138G>A (p.Ser46=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1077039	NM_014625.4(NPHS2):c.547G>T (p.Asp183Tyr)	NPHS2 (D183Y)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 1075584	NM_014625.4(NPHS2):c.768G>A (p.Trp256Ter)	AXDND1, NPHS2 (W188* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1073625	NM_014625.4(NPHS2):c.486C>A (p.Tyr162Ter)	NPHS2 (Y162*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 996286	NM_014625.4(NPHS2):c.452del	NPHS2	Deletion (splice acceptor variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 989252	NM_014625.4(NPHS2):c.561G>A (p.Met187Ile)	NPHS2 (M187I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 988166	NM_014625.4(NPHS2):c.923C>T (p.Ala308Val)	AXDND1, NPHS2 (A240V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 974486	NM_014625.4(NPHS2):c.953_955del (p.Ala318del)	AXDND1, NPHS2 (A250del +1 more)	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 972638	NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser)	NPHS2 (R238S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 942020	NM_014625.4(NPHS2):c.436del (p.Arg146fs)	NPHS2 (R146fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 941972	NM_014625.4(NPHS2):c.738+1G>A	NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 928542	NM_014625.4(NPHS2):c.419del (p.Gly140fs)	NPHS2 (G140fs)	Deletion (frameshift variant)	NPHS2-related disorder +2 more	GPathogenic
Select item 917730	NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter)	NPHS2 (E87*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 876652	NM_014625.4(NPHS2):c.765T>C (p.Ile255=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 875654	NM_014625.4(NPHS2):c.875T>C (p.Met292Thr)	AXDND1, NPHS2 (M224T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 874769	NM_014625.4(NPHS2):c.17G>A (p.Arg6Gln)	NPHS2 (R6Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 874716	NM_014625.4(NPHS2):c.*126C>T	NPHS2, AXDND1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 874715	NM_014625.4(NPHS2):c.*127G>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 874714	NM_014625.4(NPHS2):c.*199C>T	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 873812	NM_014625.4(NPHS2):c.120G>A (p.Glu40=)	NPHS2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 873811	NM_014625.4(NPHS2):c.220G>A (p.Gly74Ser)	NPHS2 (G74S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +2 more	GUncertain significance
Select item 873810	NM_014625.4(NPHS2):c.451+15T>C	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 873761	NM_014625.4(NPHS2):c.*422T>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 807639	NM_014625.4(NPHS2):c.379G>A (p.Val127Ile)	NPHS2 (V127I)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 807638	NM_014625.4(NPHS2):c.576_577del (p.Ile192fs)	NPHS2 (I192fs)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
Select item 801581	NM_014625.4(NPHS2):c.981del (p.Gln328fs)	AXDND1, NPHS2 (Q260fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
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 749728	NM_014625.4(NPHS2):c.610C>T (p.Leu204=)	NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 716375	NM_014625.4(NPHS2):c.144C>T (p.Ser48=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 710192	NM_014625.4(NPHS2):c.723C>T (p.Ile241=)	NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +1 more	GLikely benign
Select item 635511	NM_014625.4(NPHS2):c.929A>T (p.Glu310Val)	AXDND1, NPHS2 (E310V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
Select item 635471	NM_014625.4(NPHS2):c.823dup (p.Gln275fs)	AXDND1, NPHS2 (Q275fs +1 more)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
Select item 599119	NM_014625.4(NPHS2):c.167del (p.Glu56fs)	NPHS2 (E56fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 599118	NM_014625.4(NPHS2):c.479A>T (p.Asp160Val)	NPHS2 (D160V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 596903	NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)	NPHS2 (E237Q)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis +3 more	GConflicting classifications of pathogenicity
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 586185	NM_014625.4(NPHS2):c.447C>T (p.Gly149=)	NPHS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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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