"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NPHS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556423	NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)	NPHS1 (D1208fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 1557256	NM_004646.4(NPHS1):c.3594+13G>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1094160	NM_004646.4(NPHS1):c.3594+9C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 554827	NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)	NPHS1 (Y1183*)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552390	NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)	NPHS1 (Y1183*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 763822	NM_004646.4(NPHS1):c.3546G>A (p.Thr1182=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 496272	NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala)	NPHS1 (T1182A)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 551939	NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del)	NPHS1 (D1177del)	Microsatellite (inframe_deletion)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 1451874	NM_004646.4(NPHS1):c.3482-7A>C	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 259499	NM_004646.4(NPHS1):c.3482-7A>T	NPHS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 928578	NM_004646.4(NPHS1):c.3481+1G>T	NPHS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 6873	NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	NPHS1 (R1160*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 392914	NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met)	NPHS1 (T1152M)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 189074	NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)	NPHS1 (Q1148*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1106001	NM_004646.4(NPHS1):c.3438C>T (p.Ser1146=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 259498	NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)	NPHS1 (R1140S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 56500	NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys)	NPHS1 (R1140C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1538902	NM_004646.4(NPHS1):c.3387+9G>A	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 890746	NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys)	NPHS1 (E1113K)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1507099	NM_004646.4(NPHS1):c.3287-2A>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 890747	NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His)	NPHS1 (R1092H)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 56497	NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	NPHS1 (V1084fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 798427	NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 990518	NM_004646.4(NPHS1):c.3247G>A (p.Gly1083Arg)	NPHS1 (G1083R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 709497	NM_004646.4(NPHS1):c.3243C>T (p.Val1081=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1612941	NM_004646.4(NPHS1):c.3228C>T (p.Ser1076=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 1131830	NM_004646.4(NPHS1):c.3114C>T (p.Leu1038=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 429811	NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1509053	NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met)	NPHS1 (T999M)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 1413819	NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs)	NPHS1 (F998fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1179047	NM_004646.4(NPHS1):c.2927+2T>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 328860	NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser)	NPHS1 (R972S)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +2 more	GUncertain significance
Select item 1104745	NM_004646.4(NPHS1):c.2874G>T (p.Gly958=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 180465	NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu)	NPHS1 (G958E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1065992	NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	NPHS1 (S910P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1150079	NM_004646.4(NPHS1):c.2724C>T (p.Asn908=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1016099	NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile)	NPHS1 (V899I)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 1421742	NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met)	NPHS1 (T890M)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 1101545	NM_004646.4(NPHS1):c.2664-7T>C	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 496271	NM_004646.4(NPHS1):c.2663+2T>G	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1137019	NM_004646.4(NPHS1):c.2634C>T (p.Asn878=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 56482	NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	NPHS1 (N870fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1524828	NM_004646.4(NPHS1):c.2591G>A (p.Arg864His)	NPHS1 (R864H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1333306	NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)	NPHS1 (R864C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1422383	NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr)	NPHS1 (P845T)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +2 more	GUncertain significance
Select item 1004356	NM_004646.4(NPHS1):c.2525A>C (p.His842Pro)	NPHS1 (H842P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 796023	NM_004646.4(NPHS1):c.2523G>A (p.Glu841=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 56476	NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	NPHS1 (R831C)	Single nucleotide variant (missense variant)	NPHS1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 727452	NM_004646.4(NPHS1):c.2482C>A (p.Arg828=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1586827	NM_004646.4(NPHS1):c.2394G>A (p.Thr798=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 930197	NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys)	NPHS1 (E782K)	Single nucleotide variant (missense variant)	Glomerulonephritis +2 more	GUncertain significance
Select item 188734	NM_004646.4(NPHS1):c.2335-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1359980	NM_004646.4(NPHS1):c.2335-11T>A	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1158082	NM_004646.4(NPHS1):c.2259C>T (p.Val753=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 56469	NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	NPHS1 (R743C)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 994656	NM_004646.4(NPHS1):c.2159A>C (p.His720Pro)	NPHS1 (H720P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1143736	NM_004646.4(NPHS1):c.2072-5C>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1642572	NM_004646.4(NPHS1):c.2001C>T (p.Pro667=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1154389	NM_004646.4(NPHS1):c.1998G>T (p.Leu666=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1612234	NM_004646.4(NPHS1):c.1935T>C (p.Arg645=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1526200	NM_004646.4(NPHS1):c.1931-16G>A	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 56453	NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	NPHS1 (C623F)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 328866	NM_004646.4(NPHS1):c.1861G>A (p.Val621Met)	NPHS1 (V621M)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +1 more	GUncertain significance
Select item 554182	NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)	NPHS1 (E583K)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 371117	NM_004646.4(NPHS1):c.1745del (p.Lys582fs)	NPHS1 (K582fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56447	NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)	NPHS1 (S572N)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550087	NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)	NPHS1 (S572G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 56445	NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	NPHS1 (C567*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 723813	NM_004646.4(NPHS1):c.1647G>C (p.Thr549=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 450011	NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro)	NPHS1 (S536P)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 1415681	NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)	NPHS1 (R496S)	Single nucleotide variant (missense variant)	Microscopic hematuria +2 more	GConflicting classifications of pathogenicity
Select item 1169319	NM_004646.4(NPHS1):c.1440+19C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GBenign
Select item 56438	NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	NPHS1 (R460Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 370800	NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)	NPHS1 (W445*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1093375	NM_004646.4(NPHS1):c.1316-6C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 1422677	NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile)	NPHS1 (V437I)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 1136268	NM_004646.4(NPHS1):c.1296G>A (p.Ser432=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 1301353	NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser)	NPHS1 (G412S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 56430	NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	NPHS1 (R407W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 723062	NM_004646.4(NPHS1):c.1185T>C (p.Gly395=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 551740	NM_004646.4(NPHS1):c.1170+7C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 1118694	NM_004646.4(NPHS1):c.1155G>A (p.Glu385=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 1557044	NM_004646.4(NPHS1):c.1131C>T (p.Gly377=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1073364	NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter)	NPHS1 (R373*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 747664	NM_004646.4(NPHS1):c.1113G>C (p.Leu371=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 730356	NM_004646.4(NPHS1):c.1104G>A (p.Pro368=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 56421	NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)	NPHS1 (R367C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56420	NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)	NPHS1 (S366R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 56419	NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	NPHS1 (S350P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 496269	NM_004646.4(NPHS1):c.1020del (p.Ser341fs)	NPHS1 (S341fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1587760	NM_004646.4(NPHS1):c.1012+17G>C	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 1129230	NM_004646.4(NPHS1):c.939G>A (p.Ala313=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 1089501	NM_004646.4(NPHS1):c.915C>T (p.Thr305=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 990525	NM_004646.4(NPHS1):c.896G>A (p.Arg299His)	NPHS1 (R299H)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 1585751	NM_004646.4(NPHS1):c.841-12C>G	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 556186	NM_004646.4(NPHS1):c.822_840+6dup	NPHS1	Duplication (splice donor variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 56522	NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)	NPHS1 (R256W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 805091	NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)	NPHS1 (P243fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1518364	NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln)	NPHS1 (L237Q)	Single nucleotide variant (missense variant)	Microscopic hematuria +2 more	GUncertain significance
Select item 1039235	NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)	NPHS1 (L237P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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