ClinVar for Gene (Select 4868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3233925	NM_004646.4(NPHS1):c.2223_2228delinsTATCCA (p.Arg743His)	NPHS1 (R743H)	Indel (missense variant)	not specified	GUncertain significance
Select item 3233492	NM_004646.4(NPHS1):c.1724C>T (p.Pro575Leu)	NPHS1 (P575L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201677	NM_004646.4(NPHS1):c.363G>C (p.Glu121Asp)	NPHS1 (E121D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201676	NM_004646.4(NPHS1):c.3571C>G (p.Pro1191Ala)	NPHS1 (P1191A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201675	NM_004646.4(NPHS1):c.3473A>T (p.Tyr1158Phe)	NPHS1 (Y1158F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201674	NM_004646.4(NPHS1):c.3263G>A (p.Arg1088Gln)	NPHS1 (R1088Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201673	NM_004646.4(NPHS1):c.283C>T (p.His95Tyr)	NPHS1 (H95Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201672	NM_004646.4(NPHS1):c.2708T>A (p.Leu903His)	NPHS1 (L903H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3201669	NM_004646.4(NPHS1):c.2300C>A (p.Pro767His)	NPHS1 (P767H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201668	NM_004646.4(NPHS1):c.1870C>T (p.Arg624Cys)	NPHS1 (R624C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201667	NM_004646.4(NPHS1):c.1523C>G (p.Thr508Ser)	NPHS1 (T508S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201666	NM_004646.4(NPHS1):c.1495C>G (p.Leu499Val)	NPHS1 (L499V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201665	NM_004646.4(NPHS1):c.1451C>T (p.Thr484Ile)	NPHS1 (T484I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201664	NM_004646.4(NPHS1):c.1166T>C (p.Met389Thr)	NPHS1 (M389T)	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 3063885	NM_004646.4(NPHS1):c.3274C>T (p.Arg1092Cys)	NPHS1 (R1092C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3051231	NM_004646.4(NPHS1):c.1206G>C (p.Leu402=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder	GLikely benign
Select item 3046857	NM_004646.4(NPHS1):c.1593A>T (p.Gly531=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder	GLikely benign
Select item 3040768	NM_004646.4(NPHS1):c.2816-3T>C	NPHS1	Single nucleotide variant (intron variant)	NPHS1-related disorder	GLikely benign
Select item 3030716	NM_004646.4(NPHS1):c.3531T>C (p.Asp1177=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder	GLikely benign
Select item 3022807	NM_004646.4(NPHS1):c.402T>A (p.Pro134=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022633	NM_004646.4(NPHS1):c.841-17C>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022194	NM_004646.4(NPHS1):c.1171-11C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021625	NM_004646.4(NPHS1):c.1890C>G (p.Leu630=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021016	NM_004646.4(NPHS1):c.2506+12C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019779	NM_004646.4(NPHS1):c.275-5del	NPHS1	Deletion (intron variant)	not provided	GLikely benign
Select item 3019687	NM_004646.4(NPHS1):c.1173A>G (p.Gly391=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017500	NM_004646.4(NPHS1):c.2663+16G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017060	NM_004646.4(NPHS1):c.3645A>G (p.Gly1215=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016856	NM_004646.4(NPHS1):c.1757+18C>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016095	NM_004646.4(NPHS1):c.1437C>G (p.Tyr479Ter)	NPHS1 (Y479*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3015174	NM_004646.4(NPHS1):c.1758-14C>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015035	NM_004646.4(NPHS1):c.2479C>A (p.Arg827=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014860	NM_004646.4(NPHS1):c.840+15G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014774	NM_004646.4(NPHS1):c.59-18A>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014630	NM_004646.4(NPHS1):c.3312-15C>T	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 3014361	NM_004646.4(NPHS1):c.2199dup (p.Leu734fs)	NPHS1 (L734fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3014059	NM_004646.4(NPHS1):c.2815+19G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012216	NM_004646.4(NPHS1):c.780C>T (p.Ser260=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009298	NM_004646.4(NPHS1):c.3611A>G (p.His1204Arg)	NPHS1 (H1204R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3009031	NM_004646.4(NPHS1):c.1315+11G>A	NPHS1	Single nucleotide variant (intron 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 3008607	NM_004646.4(NPHS1):c.3110-7C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007688	NM_004646.4(NPHS1):c.526+20G>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007250	NM_004646.4(NPHS1):c.3099C>T (p.Ile1033=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005545	NM_004646.4(NPHS1):c.3388-20_3388-17del	NPHS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3004862	NM_004646.4(NPHS1):c.1441-16C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004243	NM_004646.4(NPHS1):c.1368G>C (p.Arg456=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002879	NM_004646.4(NPHS1):c.3286+14C>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002794	NM_004646.4(NPHS1):c.2816-18C>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002468	NM_004646.4(NPHS1):c.2928-13C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001852	NM_004646.4(NPHS1):c.2664-16C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001456	NM_004646.4(NPHS1):c.2927+2T>C	NPHS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3000985	NM_004646.4(NPHS1):c.1315+15T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000706	NM_004646.4(NPHS1):c.398-20C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000418	NM_004646.4(NPHS1):c.1441-20_1441-19del	NPHS1	Deletion (intron variant)	not provided	GLikely benign
Select item 3000341	NM_004646.4(NPHS1):c.841-9T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999881	NM_004646.4(NPHS1):c.713-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2999671	NM_004646.4(NPHS1):c.2326del (p.Glu776fs)	NPHS1 (E776fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2999405	NM_004646.4(NPHS1):c.3110-7C>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997563	NM_004646.4(NPHS1):c.2212+18T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997150	NM_004646.4(NPHS1):c.1884C>T (p.Ala628=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996230	NM_004646.4(NPHS1):c.3594+13G>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995313	NM_004646.4(NPHS1):c.3167-17G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994948	NM_004646.4(NPHS1):c.3166+13T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994349	NM_004646.4(NPHS1):c.3366G>A (p.Glu1122=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994163	NM_004646.4(NPHS1):c.3387+19G>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993849	NM_004646.4(NPHS1):c.3150C>G (p.Pro1050=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992697	NM_004646.4(NPHS1):c.526+18G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991189	NM_004646.4(NPHS1):c.2928-11C>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990327	NM_004646.4(NPHS1):c.713-18G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990204	NM_004646.4(NPHS1):c.1931-20C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989459	NM_004646.4(NPHS1):c.3482-14C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989324	NM_004646.4(NPHS1):c.2664-18G>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989144	NM_004646.4(NPHS1):c.3166+19G>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988527	NM_004646.4(NPHS1):c.1930+13G>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988340	NM_004646.4(NPHS1):c.2072-4C>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988185	NM_004646.4(NPHS1):c.3420C>T (p.Arg1140=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987085	NM_004646.4(NPHS1):c.609-13C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986313	NM_004646.4(NPHS1):c.2071+18G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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