C0403399[trait identifier] AND "Juha Muilu Group; Institute for Molecu - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 56502	NM_004646.4(NPHS1):c.3595-2A>G	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 56501	NM_004646.4(NPHS1):c.3482G>T (p.Gly1161Val)	NPHS1 (G1161V)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56500	NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys)	NPHS1 (R1140C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 56499	NM_004646.4(NPHS1):c.3388-2A>G	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56498	NM_004646.4(NPHS1):c.3356_3357dup (p.Thr1120fs)	NPHS1 (T1120fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 56492	NM_004646.4(NPHS1):c.2944dup (p.Thr982fs)	NPHS1 (T982fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 56491	NM_004646.4(NPHS1):c.2927+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 56489	NM_004646.4(NPHS1):c.2816-4_2822del	NPHS1	Deletion (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56488	NM_004646.4(NPHS1):c.2815+5G>A	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56487	NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)	NPHS1 (S928*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56486	NM_004646.4(NPHS1):c.2770_2776del (p.Asn924fs)	NPHS1 (N924fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56485	NM_004646.4(NPHS1):c.2664-4_2670del	NPHS1	Deletion (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56484	NM_004646.4(NPHS1):c.2625G>A (p.Trp875Ter)	NPHS1 (W875*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56483	NM_004646.4(NPHS1):c.2618_2620delinsCC (p.Phe873fs)	NPHS1 (F873fs)	Indel (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56482	NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	NPHS1 (N870fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 56481	NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	NPHS1 (R866*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56480	NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs)	NPHS1 (A850fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 56479	NM_004646.4(NPHS1):c.2515del (p.Gln839fs)	NPHS1 (Q839fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 56478	NM_004646.4(NPHS1):c.2500G>T (p.Val834Phe)	NPHS1 (V834F)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56477	NM_004646.4(NPHS1):c.2495T>C (p.Leu832Pro)	NPHS1 (L832P)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56476	NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	NPHS1 (R831C)	Single nucleotide variant (missense variant)	NPHS1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 56474	NM_004646.4(NPHS1):c.2442C>G (p.Tyr814Ter)	NPHS1 (Y814*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56473	NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	NPHS1 (A806D)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56472	NM_004646.4(NPHS1):c.2405G>C (p.Arg802Pro)	NPHS1 (R802P)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56471	NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	NPHS1 (R802W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 56470	NM_004646.4(NPHS1):c.2227del (p.Arg743fs)	NPHS1 (R743fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56469	NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	NPHS1 (R743C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56468	NM_004646.4(NPHS1):c.2225T>C (p.Ile742Thr)	NPHS1 (I742T)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56467	NM_004646.4(NPHS1):c.2216C>T (p.Ala739Val)	NPHS1 (A739V)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56466	NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)	NPHS1 (E725fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 56465	NM_004646.4(NPHS1):c.2171C>G (p.Ser724Cys)	NPHS1 (S724C)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56463	NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)	NPHS1 (L719fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56464	NM_004646.4(NPHS1):c.2160dup (p.Cys721fs)	NPHS1 (C721fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 56462	NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly)	NPHS1 (V709G)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56461	NM_004646.4(NPHS1):c.2072-6C>G	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 56460	NM_004646.4(NPHS1):c.2071+2T>C	NPHS1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56459	NM_004646.4(NPHS1):c.2043G>T (p.Trp681Cys)	NPHS1 (W681C)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56458	NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys)	NPHS1 (N673K)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56457	NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)	NPHS1 (Q652*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 56456	NM_004646.4(NPHS1):c.1928T>C (p.Leu643Pro)	NPHS1 (L643P)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56454	NM_004646.4(NPHS1):c.1905C>T (p.Ser635=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 56452	NM_004646.4(NPHS1):c.1829T>A (p.Leu610Gln)	NPHS1 (L610Q)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56451	NM_004646.4(NPHS1):c.1801G>C (p.Gly601Arg)	NPHS1 (G601R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56449	NM_004646.3(NPHS1):c.1758-8_1785del	NPHS1	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 56450	NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)	NPHS1 (L587R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 56448	NM_004646.4(NPHS1):c.1724C>A (p.Pro575Gln)	NPHS1 (P575Q)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely 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 56446	NM_004646.4(NPHS1):c.1707C>G (p.Ser569Arg)	NPHS1 (S569R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 56444	NM_004646.4(NPHS1):c.1672C>T (p.Arg558Cys)	NPHS1 (R558C)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56443	NM_004646.4(NPHS1):c.1583G>T (p.Cys528Phe)	NPHS1 (C528F)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56442	NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)	NPHS1 (P519S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 56441	NM_004646.4(NPHS1):c.1481del (p.Ser494fs)	NPHS1 (S494fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 56439	NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)	NPHS1 (C465Y)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 56438	NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	NPHS1 (R460Q)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GPathogenic/Likely pathogenic
Select item 56437	NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)	NPHS1 (I446N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 56436	NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)	NPHS1 (V437fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56435	NM_004646.4(NPHS1):c.1292dup (p.Ser432fs)	NPHS1 (S432fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 56434	NM_004646.4(NPHS1):c.1275del (p.Lys426fs)	NPHS1 (K426fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56433	NM_004646.4(NPHS1):c.1250G>T (p.Cys417Phe)	NPHS1 (C417F)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56432	NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)	NPHS1 (G412C)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic/Likely pathogenic
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 56429	NM_004646.4(NPHS1):c.1138C>T (p.Gln380Ter)	NPHS1 (Q380*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56428	NM_004646.4(NPHS1):c.1135_1136del (p.Arg379fs)	NPHS1 (R379fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56427	NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp)	NPHS1 (R379W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 56426	NM_004646.4(NPHS1):c.1134G>A (p.Trp378Ter)	NPHS1 (W378*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56425	NM_004646.4(NPHS1):c.1126C>G (p.Leu376Val)	NPHS1 (L376V)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56424	NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)	NPHS1 (P368L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 56423	NM_004646.4(NPHS1):c.1102C>T (p.Pro368Ser)	NPHS1 (P368S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 56422	NM_004646.4(NPHS1):c.1100G>A (p.Arg367His)	NPHS1 (R367H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 56421	NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)	NPHS1 (R367C)	Single nucleotide variant (missense variant)	NPHS1-related condition +3 more	GPathogenic/Likely pathogenic
Select item 56420	NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)	NPHS1 (S366R)	Single nucleotide variant (missense variant)	not provided +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 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 56417	NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)	NPHS1 (P340H)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 56524	NM_004646.4(NPHS1):c.886G>A (p.Ala296Thr)	NPHS1 (A296T)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 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 56521	NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)	NPHS1 (E246*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 56520	NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter)	NPHS1 (S231*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 56519	NM_004646.4(NPHS1):c.661_662del (p.Ser221fs)	NPHS1 (S221fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56518	NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)	NPHS1	Indel (inframe_indel)	not provided +1 more	GPathogenic
Select item 56517	NM_004646.4(NPHS1):c.609-2A>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56515	NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter)	NPHS1 (Q192*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 56514	NM_004646.4(NPHS1):c.534del (p.Thr179fs)	NPHS1 (T179fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56513	NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)	NPHS1 (Q178*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 56512	NM_004646.4(NPHS1):c.526+5G>C	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56511	NM_004646.4(NPHS1):c.518T>A (p.Ile173Asn)	NPHS1 (I173N)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56509	NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	NPHS1 (T172del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 56510	NM_004646.4(NPHS1):c.516del (p.Ile173fs)	NPHS1 (I173fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 56508	NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)	NPHS1 (I171N)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56507	NM_004646.4(NPHS1):c.500C>T (p.Pro167Leu)	NPHS1 (P167L)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +3 more	GLikely pathogenic
Select item 56506	NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)	NPHS1 (C160S)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 56505	NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)	NPHS1 (Y156*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 56504	NM_004646.4(NPHS1):c.398-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GPathogenic/Likely pathogenic
Select item 56495	NM_004646.4(NPHS1):c.320C>T (p.Ala107Val)	NPHS1 (A107V)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance

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