Related gene-specific medical variations for Gene (Select 4868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300807	NM_004646.4(NPHS1):c.259G>T (p.Gly87Trp)	KIRREL2, NPHS1 (G87W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300804	NM_004646.4(NPHS1):c.184G>T (p.Val62Leu)	KIRREL2, NPHS1 (V62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242681	NC_000019.9:g.(?_36322270)_(36328573_?)del	NPHS1	Deletion	not provided	GLikely pathogenic
Select item 3242680	NC_000019.9:g.(?_36335021)_(36344332_?)del	NPHS1	Deletion	not provided	GPathogenic
Select item 3242678	NC_000019.9:g.(?_36330119)_(36337116_?)del	NPHS1	Deletion	not provided	GPathogenic
Select item 3242677	NC_000019.9:g.(?_36332597)_(36337116_?)del	NPHS1	Deletion	not provided	GPathogenic
Select item 3242676	NC_000019.9:g.(?_36332607)_(36342749_?)del	NPHS1	Deletion	not provided	GPathogenic
Select item 3242675	NC_000019.9:g.(?_36317416)_(36317567_?)del	NPHS1	Deletion	not provided	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 3201671	NM_004646.4(NPHS1):c.269C>A (p.Ala90Asp)	KIRREL2, NPHS1 (A90D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201670	NM_004646.4(NPHS1):c.265C>T (p.Pro89Ser)	KIRREL2, NPHS1 (P89S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3014774	NM_004646.4(NPHS1):c.59-18A>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014485	NM_004646.4(NPHS1):c.141C>T (p.Ala47=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008688	NM_004646.4(NPHS1):c.33C>A (p.Leu11=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985394	NM_004646.4(NPHS1):c.274+9T>C	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982953	NM_004646.4(NPHS1):c.138G>A (p.Gly46=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920279	NM_004646.4(NPHS1):c.156T>C (p.Arg52=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917065	NM_004646.4(NPHS1):c.59-14C>T	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912145	NM_004646.4(NPHS1):c.59-16C>T	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895127	NM_004646.4(NPHS1):c.264C>A (p.Asp88Glu)	KIRREL2, NPHS1 (D88E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880836	NM_004646.4(NPHS1):c.27T>G (p.Ala9=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875906	NM_004646.4(NPHS1):c.103del (p.Trp35fs)	NPHS1, KIRREL2 (W35fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2864723	NM_004646.4(NPHS1):c.274+11A>C	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857648	NM_004646.4(NPHS1):c.63G>A (p.Leu21=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855755	NM_004646.4(NPHS1):c.135G>A (p.Glu45=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854892	NM_004646.4(NPHS1):c.48G>C (p.Leu16=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789059	NM_004646.4(NPHS1):c.216C>T (p.Gly72=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779659	NM_004646.4(NPHS1):c.104G>A (p.Trp35Ter)	KIRREL2, NPHS1 (W35*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2772361	NM_004646.4(NPHS1):c.59-16del	KIRREL2, NPHS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2763016	NM_004646.4(NPHS1):c.81T>G (p.Pro27=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761840	NM_004646.4(NPHS1):c.58+15A>C	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760285	NM_004646.4(NPHS1):c.163_164insA (p.Val55fs)	KIRREL2, NPHS1 (V55fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2758209	NM_004646.4(NPHS1):c.58+13C>T	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735857	NM_004646.4(NPHS1):c.275-15C>T	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734615	NM_004646.4(NPHS1):c.12del (p.Thr5fs)	KIRREL2, NPHS1 (T5fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2733238	NM_004646.4(NPHS1):c.74C>T (p.Ala25Val)	KIRREL2, NPHS1 (A25V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2732110	NM_004646.4(NPHS1):c.94C>T (p.Arg32Trp)	KIRREL2, NPHS1 (R32W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2712922	NM_004646.4(NPHS1):c.234A>C (p.Pro78=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702250	NM_004646.4(NPHS1):c.134_135del (p.Glu45fs)	KIRREL2, NPHS1 (E45fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 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 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 2677288	NM_004646.4(NPHS1):c.1930+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic

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