NPHS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 221400	GRCh38/hg38 19q13.12(chr19:35778321-35862983)x1	ARHGAP33, KIRREL2 +4 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2579207	GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0	NPHS1, PRODH2	Copy number loss	Finnish congenital nephrotic syndrome	GPathogenic
Select item 328840	NM_004646.4(NPHS1):c.*1119A>C	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GBenign
Select item 890111	NM_004646.4(NPHS1):c.*1111G>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328841	NM_004646.4(NPHS1):c.*1040C>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328842	NM_004646.4(NPHS1):c.*1021G>A	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328843	NM_004646.4(NPHS1):c.*1020C>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 890112	NM_004646.4(NPHS1):c.*962G>A	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328844	NM_004646.4(NPHS1):c.*958G>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 890688	NM_004646.4(NPHS1):c.*888A>G	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 890689	NM_004646.4(NPHS1):c.*865T>C	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 890690	NM_004646.4(NPHS1):c.*765C>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 890691	NM_004646.4(NPHS1):c.*760T>C	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328845	NM_004646.4(NPHS1):c.*759A>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 890692	NM_004646.4(NPHS1):c.*757T>C	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 890693	NM_004646.4(NPHS1):c.*751C>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328846	NM_004646.4(NPHS1):c.*706A>G	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GLikely benign
Select item 328847	NM_004646.4(NPHS1):c.*609G>A	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328848	NM_004646.4(NPHS1):c.*538G>A	NPHS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 328849	NM_004646.4(NPHS1):c.*529C>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328850	NM_004646.4(NPHS1):c.*488T>C	NPHS1	Single nucleotide variant (3 prime UTR variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 891940	NM_004646.4(NPHS1):c.*483G>A	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 891941	NM_004646.4(NPHS1):c.*457A>G	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome +1 more	GBenign
Select item 891942	NM_004646.4(NPHS1):c.*419C>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 891943	NM_004646.4(NPHS1):c.*287C>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 889496	NM_004646.4(NPHS1):c.*272G>A	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 889495	NM_004646.4(NPHS1):c.*272G>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328851	NM_004646.4(NPHS1):c.*250G>A	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 889497	NM_004646.4(NPHS1):c.*146T>C	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome +1 more	GBenign
Select item 328852	NM_004646.4(NPHS1):c.*82G>T	NPHS1	Single nucleotide variant (3 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 56503	NM_004646.4(NPHS1):c.3720_*9del (p.Val1241fs)	NPHS1 (V1241fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1132897	NM_004646.4(NPHS1):c.3723G>A (p.Val1241=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139884	NM_004646.4(NPHS1):c.3722T>C (p.Val1241Ala)	NPHS1 (V1241A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2832108	NM_004646.4(NPHS1):c.3720G>A (p.Leu1240=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889498	NM_004646.4(NPHS1):c.3716A>T (p.His1239Leu)	NPHS1 (H1239L)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 2980564	NM_004646.4(NPHS1):c.3714A>C (p.Gly1238=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939554	NM_004646.4(NPHS1):c.3714A>G (p.Gly1238=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 557225	NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter)	NPHS1 (G1238*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 1897767	NM_004646.4(NPHS1):c.3708G>A (p.Leu1236=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541443	NM_004646.4(NPHS1):c.3703G>A (p.Glu1235Lys)	NPHS1 (E1235K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715324	NM_004646.4(NPHS1):c.3702C>T (p.Phe1234=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2627208	NM_004646.4(NPHS1):c.3701del (p.Phe1234fs)	NPHS1 (F1234fs)	Deletion (frameshift variant)	not specified	GUncertain significance
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 2677300	NM_004646.4(NPHS1):c.3699del (p.Phe1234fs)	NPHS1 (F1234fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1111365	NM_004646.4(NPHS1):c.3699C>T (p.Pro1233=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551796	NM_004646.4(NPHS1):c.3693T>C (p.Ser1231=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889499	NM_004646.4(NPHS1):c.3687C>T (p.Pro1229=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2193083	NM_004646.4(NPHS1):c.3679C>G (p.Leu1227Val)	NPHS1 (L1227V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955771	NM_004646.4(NPHS1):c.3678T>C (p.Thr1226=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820253	NM_004646.4(NPHS1):c.3670T>C (p.Leu1224=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889500	NM_004646.4(NPHS1):c.3667G>A (p.Asp1223Asn)	NPHS1 (D1223N)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 2243164	NM_004646.4(NPHS1):c.3665G>A (p.Gly1222Glu)	NPHS1 (G1222E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1109242	NM_004646.4(NPHS1):c.3663C>T (p.Ala1221=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796826	NM_004646.4(NPHS1):c.3663C>A (p.Ala1221=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674923	NM_004646.4(NPHS1):c.3660G>A (p.Val1220=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153991	NM_004646.4(NPHS1):c.3654C>T (p.Asp1218=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878910	NM_004646.4(NPHS1):c.3651T>C (p.Tyr1217=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762830	NM_004646.4(NPHS1):c.3649T>G (p.Tyr1217Asp)	NPHS1 (Y1217D)	Single nucleotide variant (missense 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 1423073	NM_004646.4(NPHS1):c.3643G>A (p.Gly1215Arg)	NPHS1 (G1215R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064736	NM_004646.4(NPHS1):c.3639A>T (p.Pro1213=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652181	NM_004646.4(NPHS1):c.3630T>C (p.Tyr1210=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794989	NM_004646.4(NPHS1):c.3627A>G (p.Thr1209=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 553466	NM_004646.4(NPHS1):c.3619del (p.Glu1207fs)	NPHS1 (E1207fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 553267	NM_004646.4(NPHS1):c.3613del (p.Trp1205fs)	NPHS1 (W1205fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 2677306	NM_004646.4(NPHS1):c.3600_3607del	NPHS1	Deletion	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 720781	NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser)	NPHS1 (P1200S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 56502	NM_004646.4(NPHS1):c.3595-2A>G	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 1140057	NM_004646.4(NPHS1):c.3595-4T>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1125715	NM_004646.4(NPHS1):c.3595-5G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016178	NM_004646.4(NPHS1):c.3595-7C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605843	NM_004646.4(NPHS1):c.3595-8C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259501	NM_004646.4(NPHS1):c.3595-9G>T	NPHS1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 2702417	NM_004646.4(NPHS1):c.3595-14T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265144	NM_004646.4(NPHS1):c.3595-36C>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237962	NM_004646.4(NPHS1):c.3594+221G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190511	NM_004646.4(NPHS1):c.3594+104C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884110	NM_004646.4(NPHS1):c.3594+15_3594+27del	NPHS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2859744	NM_004646.4(NPHS1):c.3594+17C>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886204	NM_004646.4(NPHS1):c.3594+15A>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734699	NM_004646.4(NPHS1):c.3594+14C>T	NPHS1	Single nucleotide variant (intron 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 1557256	NM_004646.4(NPHS1):c.3594+13G>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1121199	NM_004646.4(NPHS1):c.3594+9C>A	NPHS1	Single nucleotide variant (intron variant)	not provided	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 764676	NM_004646.4(NPHS1):c.3594+8G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723351	NM_004646.4(NPHS1):c.3594+2T>C	NPHS1	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 552983	NM_004646.4(NPHS1):c.3594+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1416381	NM_004646.4(NPHS1):c.3591G>C (p.Gln1197His)	NPHS1 (Q1197H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1089839	NM_004646.4(NPHS1):c.3582T>C (p.Asp1194=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626114	NM_004646.4(NPHS1):c.3579C>T (p.Tyr1193=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632309	NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs)	NPHS1 (S1186fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
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 2545511	NM_004646.4(NPHS1):c.3569G>A (p.Gly1190Glu)	NPHS1 (G1190E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 554227	NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)	NPHS1 (A1188T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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