ClinVar for MedGen (Select 98011) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378405	NM_004646.4(NPHS1):c.397+3A>G	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3377291	NM_004646.4(NPHS1):c.136G>T (p.Gly46Trp)	KIRREL2, NPHS1 (G46W)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 3366727	NM_004646.4(NPHS1):c.651_652del (p.Cys217_Glu218delinsTer)	NPHS1	Microsatellite (nonsense)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3254688	NM_004646.4(NPHS1):c.3524del (p.Leu1175fs)	NPHS1 (L1175fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3254584	NM_004646.4(NPHS1):c.1707C>A (p.Ser569Arg)	NPHS1 (S569R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3239970	NM_004646.4(NPHS1):c.1627+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239969	NM_004646.4(NPHS1):c.2815+2_2815+5del	NPHS1	Deletion (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239968	NM_004646.4(NPHS1):c.3387+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239967	NM_004646.4(NPHS1):c.3696_3700del (p.Pro1233fs)	NPHS1 (P1233fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239966	NM_004646.4(NPHS1):c.111delinsTT (p.Pro38fs)	KIRREL2, NPHS1 (P38fs)	Indel (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239965	NM_004646.4(NPHS1):c.2737C>T (p.Gln913Ter)	NPHS1 (Q913*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239964	NM_004646.4(NPHS1):c.2334+2T>C	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239963	NM_004646.4(NPHS1):c.360del (p.Glu121fs)	NPHS1 (E121fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3239962	NM_004646.4(NPHS1):c.2840_2842del (p.Leu947_Lys948delinsTer)	NPHS1	Deletion (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239961	NM_004646.4(NPHS1):c.2760T>A (p.Cys920Ter)	NPHS1 (C920*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239959	NM_004646.4(NPHS1):c.3005del (p.Gly1002fs)	NPHS1 (G1002fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239958	NM_004646.4(NPHS1):c.3061_3062delinsT (p.Asp1021fs)	NPHS1 (D1021fs)	Indel (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239957	NM_004646.4(NPHS1):c.2515C>T (p.Gln839Ter)	NPHS1 (Q839*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239956	NM_004646.4(NPHS1):c.2386G>C (p.Gly796Arg)	NPHS1 (G796R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239955	NM_004646.4(NPHS1):c.2521G>T (p.Glu841Ter)	NPHS1 (E841*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239954	NM_004646.4(NPHS1):c.3312-2A>T	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3076006	NM_016341.4(PLCE1):c.1845dup (p.Gly616fs)	PLCE1 (G308fs +1 more)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3065434	NM_004646.4(NPHS1):c.95G>A (p.Arg32Gln)	KIRREL2, NPHS1 (R32Q)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2978206	NM_004646.4(NPHS1):c.2686del (p.Gln896fs)	NPHS1 (Q896fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2875906	NM_004646.4(NPHS1):c.103del (p.Trp35fs)	KIRREL2, NPHS1 (W35fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2736164	NM_004646.4(NPHS1):c.1531dup (p.Arg511fs)	NPHS1 (R511fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2690656	NM_004646.4(NPHS1):c.1836_1837dup (p.Ser613fs)	NPHS1 (S613fs)	Microsatellite (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2687898	NM_004646.4(NPHS1):c.2758T>G (p.Cys920Gly)	NPHS1 (C920G)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2677339	NM_004646.4(NPHS1):c.3119_3122dup (p.Ser1042fs)	NPHS1 (S1042fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677338	NM_004646.4(NPHS1):c.1749del (p.Glu585fs)	NPHS1 (E585fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677337	NM_004646.4(NPHS1):c.1930+5G>A	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677336	NM_004646.4(NPHS1):c.2629_2630delinsT (p.Thr876_Lys877insTer)	NPHS1	Indel (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677335	NM_004646.4(NPHS1):c.2063_2069dup (p.Ala691fs)	NPHS1 (A691fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677334	NM_004646.4(NPHS1):c.902_909del (p.Val301fs)	NPHS1 (V301fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677333	NM_004646.4(NPHS1):c.1378del (p.Arg460fs)	NPHS1 (R460fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677332	NM_004646.4(NPHS1):c.3554del (p.Pro1185fs)	NPHS1 (P1185fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677330	NM_004646.4(NPHS1):c.841-2A>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677329	NM_004646.4(NPHS1):c.59-1G>T	KIRREL2, NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677328	NM_004646.4(NPHS1):c.397+1G>C	NPHS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2677327	NM_004646.4(NPHS1):c.2751_2754del (p.Phe918fs)	NPHS1 (F918fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677326	NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)	NPHS1 (Q1040*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2677325	NM_004646.4(NPHS1):c.1228del (p.Asp410fs)	NPHS1 (D410fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677324	NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)	NPHS1 (V736A)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677323	NM_004646.4(NPHS1):c.3311+1_3311+2delinsTC	NPHS1	Indel (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677322	NM_004646.4(NPHS1):c.739del (p.Trp247fs)	NPHS1 (W247fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677321	NM_004646.4(NPHS1):c.2816-3T>G	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677320	NM_004646.4(NPHS1):c.2850dup (p.Ser951fs)	NPHS1 (S951fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677319	NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)	NPHS1 (L947*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677318	NM_004646.4(NPHS1):c.1409del (p.Gly470fs)	NPHS1 (G470fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2677317	NM_004646.4(NPHS1):c.398-1G>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677315	NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)	NPHS1 (W961*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677314	NM_004646.4(NPHS1):c.1013-1G>T	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677313	NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)	NPHS1 (Q934*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2677312	NM_004646.4(NPHS1):c.3061del (p.Asp1021fs)	NPHS1 (D1021fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677311	NM_004646.4(NPHS1):c.444_454delinsACAC (p.Thr149fs)	NPHS1 (T149fs)	Indel (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677310	NM_004646.4(NPHS1):c.173del (p.Pro58fs)	NPHS1, KIRREL2 (P58fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677308	NM_004646.4(NPHS1):c.3311+1_3311+11del	NPHS1	Deletion (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677307	NM_004646.4(NPHS1):c.490del (p.Asp164fs)	NPHS1 (D164fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677306	NM_004646.4(NPHS1):c.3600_3607del	NPHS1	Deletion	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677305	NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter)	NPHS1 (S613*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677304	NM_004646.4(NPHS1):c.109dup (p.Leu37fs)	KIRREL2, NPHS1 (L37fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677303	NM_004646.4(NPHS1):c.527-2A>G	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2677302	NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)	NPHS1 (A1078D)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677301	NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)	NPHS1 (Q1004*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677300	NM_004646.4(NPHS1):c.3699del (p.Phe1234fs)	NPHS1 (F1234fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677299	NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)	NPHS1 (Q1118*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677298	NM_004646.4(NPHS1):c.712delT (p.Phe238fs)	NPHS1 (F238fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677297	NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)	NPHS1 (H804fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2677296	NM_004646.4(NPHS1):c.2083dup (p.Arg695fs)	NPHS1 (R695fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677295	NM_004646.4(NPHS1):c.133dup (p.Glu45fs)	KIRREL2, NPHS1 (E45fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677294	NM_004646.4(NPHS1):c.49del (p.Leu16_Leu17insTer)	KIRREL2, NPHS1	Deletion (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677293	NM_004646.4(NPHS1):c.2083del (p.Arg695fs)	NPHS1 (R695fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677292	NM_004646.4(NPHS1):c.2179_2212+6del	NPHS1	Deletion (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677290	NM_004646.4(NPHS1):c.1875_1878dup (p.Ser627fs)	NPHS1 (S627fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677289	NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)	NPHS1 (P206T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2677288	NM_004646.4(NPHS1):c.1930+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677287	NM_004646.4(NPHS1):c.840+1G>T	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2677286	NM_004646.4(NPHS1):c.3482-2A>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2637934	NM_024426.6(WT1):c.1321G>T (p.Asp441Tyr)	WT1 (D187Y +10 more)	Single nucleotide variant (missense variant +2 more)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2637933	NM_024426.6(WT1):c.1406A>C (p.Asp469Ala)	WT1 (D215A +11 more)	Single nucleotide variant (missense variant +2 more)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2637932	NM_004646.4(NPHS1):c.3481+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2637931	NM_004646.4(NPHS1):c.2928-3del	NPHS1	Deletion (intron variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 2637930	NM_004646.4(NPHS1):c.67del (p.Gln23fs)	KIRREL2, NPHS1 (Q23fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2637929	NM_004646.4(NPHS1):c.2899G>A (p.Gly967Arg)	NPHS1 (G967R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2637928	NM_004646.4(NPHS1):c.2608_2609dup (p.Asn870fs)	NPHS1 (N870fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2637927	NM_004646.4(NPHS1):c.2021C>T (p.Pro674Leu)	NPHS1 (P674L)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2585297	NM_004646.4(NPHS1):c.3108A>C (p.Pro1036=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2582747	NM_004646.4(NPHS1):c.[2552C>T;2618_2620delinsCC]	NPHS1 (F873fs +1 more)	Indel (frameshift variant +1 more)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2581211	NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)	NPHS1 (R711H)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2579207	GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0	NPHS1, PRODH2	Copy number loss	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2504645	NM_004646.4(NPHS1):c.1001T>C (p.Leu334Pro)	NPHS1 (L334P)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2503418	NM_004646.4(NPHS1):c.466dup (p.Tyr156fs)	NPHS1 (Y156fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2501159	NC_000019.9:g.(36337097_36338942)_(36340266_36340451)del	NPHS1	Deletion	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2501158	NC_000019.9:g.(36322665_36326606)_(36326664_36330138)del	NPHS1	Deletion	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2445906	NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)	NPHS1 (E647*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2434419	NM_004646.4(NPHS1):c.1744A>G (p.Lys582Glu)	NPHS1 (K582E)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2429207	NM_004646.4(NPHS1):c.1315+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2145832	NM_004646.4(NPHS1):c.3312-1G>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2115119	NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter)	NPHS1 (Q283*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2114681	NM_004646.4(NPHS1):c.1012+2T>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome +1 more	GLikely pathogenic

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