"GeneDx"[submitter] AND "NPHS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 259501	NM_004646.4(NPHS1):c.3595-9G>T	NPHS1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely 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 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
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 709098	NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr)	NPHS1 (H1174Y)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
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 1172960	NM_004646.4(NPHS1):c.3481+45C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +2 more	GBenign
Select item 1196172	NM_004646.4(NPHS1):c.3481+22A>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392906	NM_004646.4(NPHS1):c.3481+4A>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
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 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 259497	NM_004646.4(NPHS1):c.3315G>A (p.Ser1105=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1301032	NM_004646.4(NPHS1):c.3311+48G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1172962	NM_004646.4(NPHS1):c.3287-54C>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172963	NM_004646.4(NPHS1):c.3286+36C>T	NPHS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 56496	NM_004646.4(NPHS1):c.3250del (p.Val1084fs)	NPHS1 (V1084fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 259496	NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser)	NPHS1 (N1077S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1706878	NM_004646.4(NPHS1):c.3110-190C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 553429	NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)	NPHS1 (Y1009*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
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 259493	NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu)	NPHS1 (V991L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 188761	NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	NPHS1 (R976S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +4 more	GPathogenic/Likely pathogenic
Select item 1193232	NM_004646.4(NPHS1):c.2927+24G>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194256	NM_004646.4(NPHS1):c.2816-187T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270162	NM_004646.4(NPHS1):c.2816-223del	NPHS1	Deletion (intron variant)	not provided	GBenign
Select item 1260115	NM_004646.4(NPHS1):c.2815+290C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199876	NM_004646.4(NPHS1):c.2815+95C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3373208	NM_004646.4(NPHS1):c.2617T>G (p.Phe873Val)	NPHS1 (F873V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 56482	NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	NPHS1 (N870fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1703464	NM_004646.4(NPHS1):c.2437G>A (p.Ala813Thr)	NPHS1 (A813T)	Single nucleotide variant (missense variant)	not provided	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 1277452	NM_004646.4(NPHS1):c.2334+192C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259489	NM_004646.4(NPHS1):c.2289C>T (p.Val763=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +3 more	GBenign
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 259488	NM_004646.4(NPHS1):c.2223C>T (p.Thr741=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1280262	NM_004646.4(NPHS1):c.2213-99=	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283665	NM_004646.4(NPHS1):c.2213-107C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197174	NM_004646.4(NPHS1):c.2212+76C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326195	NM_004646.4(NPHS1):c.2212+10_2212+27dup	NPHS1	Duplication (intron variant)	not provided	GLikely benign
Select item 988266	NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	NPHS1 (R711S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 727269	NM_004646.4(NPHS1):c.2072-6C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1303253	NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr)	NPHS1 (P674T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227570	NM_004646.4(NPHS1):c.1931-33_1931-31del	NPHS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1207594	NM_004646.4(NPHS1):c.1931-92A>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183351	NM_004646.4(NPHS1):c.1931-236T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200583	NM_004646.4(NPHS1):c.1930+140A>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259486	NM_004646.4(NPHS1):c.1930+12G>A	NPHS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 259485	NM_004646.4(NPHS1):c.1930+10C>T	NPHS1	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 328865	NM_004646.4(NPHS1):c.1926A>G (p.Val642=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 720782	NM_004646.4(NPHS1):c.1908C>T (p.Ser636=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 716477	NM_004646.4(NPHS1):c.1758-8T>G	NPHS1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 328869	NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1181264	NM_004646.4(NPHS1):c.1627+89A>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721129	NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 56441	NM_004646.4(NPHS1):c.1481del (p.Ser494fs)	NPHS1 (S494fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1189692	NM_004646.4(NPHS1):c.1441-310G>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 180461	NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)	NPHS1 (E447K)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 259484	NM_004646.4(NPHS1):c.1320C>T (p.Pro440=)	NPHS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259482	NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)	NPHS1 (R408Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 721875	NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser)	NPHS1 (G395S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259481	NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro)	NPHS1 (L392P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 1172964	NM_004646.4(NPHS1):c.1171-86C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GBenign
Select item 259480	NM_004646.4(NPHS1):c.1170+8G>A	NPHS1	Single nucleotide variant (intron variant)	Congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 730355	NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)	NPHS1 (M384T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 328872	NM_004646.4(NPHS1):c.1110T>C (p.Val370=)	NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 56418	NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)	NPHS1 (G347E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1193601	NM_004646.4(NPHS1):c.1012+72A>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222822	NM_004646.4(NPHS1):c.1012+68A>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259508	NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)	NPHS1 (T294I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1278943	NM_004646.4(NPHS1):c.840+26A>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716478	NM_004646.4(NPHS1):c.840+6G>A	NPHS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 56523	NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)	NPHS1 (G270C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 496273	NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter)	NPHS1 (R268*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 198518	NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)	NPHS1 (P264R)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
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
Select item 259506	NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)	NPHS1 (T233A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1804556	NM_004646.4(NPHS1):c.673G>C (p.Glu225Gln)	NPHS1 (E225Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447875	NM_004646.4(NPHS1):c.644T>A (p.Leu215Gln)	NPHS1 (L215Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 796575	NM_004646.4(NPHS1):c.609-10C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1203654	NM_004646.4(NPHS1):c.609-61C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242975	NM_004646.4(NPHS1):c.609-302T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217662	NM_004646.4(NPHS1):c.608+124C>T	NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231185	NM_004646.4(NPHS1):c.527-254C>G	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256868	NM_004646.4(NPHS1):c.398-62G>A	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281784	NM_004646.4(NPHS1):c.398-66T>C	NPHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1172965	NM_004646.4(NPHS1):c.397+61A>G	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GBenign
Select item 328881	NM_004646.4(NPHS1):c.397+15C>T	NPHS1	Single nucleotide variant (intron variant)	Congenital nephrotic syndrome +1 more	GBenign/Likely benign
Select item 259500	NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys)	NPHS1 (E117K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign

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