ClinVar for MedGen (Select 98011) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792071.	GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0 GRCh38: Chr19:35811865-35846292	NPHS1, PRODH2		Finnish congenital nephrotic syndrome	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25046452.	NM_004646.4(NPHS1):c.1001T>C (p.Leu334Pro) GRCh37: Chr19:36339889 GRCh38: Chr19:35848987	NPHS1	L334P	Finnish congenital nephrotic syndrome	Likely pathogenic (Jun 13, 2023)	criteria provided, single submitter
Select item 25034183.	NM_004646.4(NPHS1):c.466dup (p.Tyr156fs) GRCh37: Chr19:36341922-36341923 GRCh38: Chr19:35851020-35851021	NPHS1	Y156fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 25011594.	NC_000019.9:g.(36337097_36338942)_(36340266_36340451)del GRCh37: Chr19:36337097-36340451	NPHS1		Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 27, 2023)	criteria provided, single submitter
Select item 25011585.	NC_000019.9:g.(36322665_36326606)_(36326664_36330138)del GRCh37: Chr19:36322665-36330138	NPHS1		Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 17, 2023)	criteria provided, single submitter
Select item 24459066.	NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter) GRCh37: Chr19:36335353 GRCh38: Chr19:35844451	NPHS1	E647*	Finnish congenital nephrotic syndrome	Likely pathogenic (Feb 19, 2023)	criteria provided, single submitter
Select item 24344197.	NM_004646.4(NPHS1):c.1744A>G (p.Lys582Glu) GRCh37: Chr19:36336584 GRCh38: Chr19:35845682	NPHS1	K582E	Finnish congenital nephrotic syndrome	Uncertain significance (Nov 11, 2020)	criteria provided, single submitter
Select item 24292078.	NM_004646.4(NPHS1):c.1315+1G>A GRCh37: Chr19:36339154 GRCh38: Chr19:35848252	NPHS1		Finnish congenital nephrotic syndrome	Likely pathogenic (Jan 11, 2023)	criteria provided, single submitter
Select item 18783139.	NC_000019.9:g.(36337097_36338942)_(36340556_36341265)del GRCh37: Chr19:36337097-36341265	NPHS1		Finnish congenital nephrotic syndrome	Likely pathogenic (Dec 15, 2022)	criteria provided, single submitter
Select item 180620210.	NM_004646.4(NPHS1):c.3058G>A (p.Gly1020Arg) GRCh37: Chr19:36330190 GRCh38: Chr19:35839288	NPHS1	G1020R	Finnish congenital nephrotic syndrome	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 180619611.	NM_004646.4(NPHS1):c.162_176del (p.Val55_Gly59del) GRCh37: Chr19:36342457-36342471 GRCh38: Chr19:35851555-35851569	KIRREL2, NPHS1		Finnish congenital nephrotic syndrome	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 180506412.	NM_004646.4(NPHS1):c.542_543del (p.Ile180_Ser181insTer) GRCh37: Chr19:36341331-36341332 GRCh38: Chr19:35850429-35850430	NPHS1		Finnish congenital nephrotic syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172687513.	NM_004646.4(NPHS1):c.2624_2625del (p.Trp875fs) GRCh37: Chr19:36333064-36333065 GRCh38: Chr19:35842162-35842163	NPHS1	W875fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172678214.	NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter) GRCh37: Chr19:36342446 GRCh38: Chr19:35851544	KIRREL2, NPHS1	Q63*	Finnish congenital nephrotic syndrome	Likely pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 172670015.	NM_004646.4(NPHS1):c.3329_3330del (p.Val1110fs) GRCh37: Chr19:36322255-36322256 GRCh38: Chr19:35831353-35831354	NPHS1	V1110fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172642616.	NM_004646.4(NPHS1):c.1946del (p.Leu649fs) GRCh37: Chr19:36335346 GRCh38: Chr19:35844444	NPHS1	L649fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172631917.	NM_004646.4(NPHS1):c.1921_1922delinsT (p.Asn641fs) GRCh37: Chr19:36336278-36336279 GRCh38: Chr19:35845376-35845377	NPHS1	N641fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172619818.	NM_004646.4(NPHS1):c.71T>A (p.Leu24Ter) GRCh37: Chr19:36342562 GRCh38: Chr19:35851660	KIRREL2, NPHS1	L24*	Finnish congenital nephrotic syndrome	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172614019.	NM_004646.4(NPHS1):c.233dup (p.Gly79fs) GRCh37: Chr19:36342399-36342400 GRCh38: Chr19:35851497-35851498	KIRREL2, NPHS1	G79fs	Finnish congenital nephrotic syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172612220.	NM_004646.4(NPHS1):c.3177dup (p.Leu1060fs) GRCh37: Chr19:36322653-36322654 GRCh38: Chr19:35831751-35831752	NPHS1	L1060fs	Finnish congenital nephrotic syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172605821.	NM_004646.4(NPHS1):c.163del (p.Val55fs) GRCh37: Chr19:36342470 GRCh38: Chr19:35851568	KIRREL2, NPHS1	V55fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 172602122.	NM_004646.4(NPHS1):c.295G>T (p.Glu99Ter) GRCh37: Chr19:36342266 GRCh38: Chr19:35851364	NPHS1	E99*	Finnish congenital nephrotic syndrome, not provided	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172601323.	NM_004646.4(NPHS1):c.1188_1189del (p.Ile397fs) GRCh37: Chr19:36339281-36339282 GRCh38: Chr19:35848379-35848380	NPHS1	I397fs	Finnish congenital nephrotic syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 172587224.	NM_004646.4(NPHS1):c.1454_1455del (p.Val485fs) GRCh37: Chr19:36337082-36337083 GRCh38: Chr19:35846180-35846181	NPHS1	V485fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 172575725.	NM_004646.4(NPHS1):c.333C>A (p.Cys111Ter) GRCh37: Chr19:36342228 GRCh38: Chr19:35851326	NPHS1	C111*	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172574726.	NM_004646.4(NPHS1):c.508del (p.Asp170fs) GRCh37: Chr19:36341881 GRCh38: Chr19:35850979	NPHS1	D170fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172572927.	NM_004646.4(NPHS1):c.33_34delinsTACACATCTG (p.Leu12fs) GRCh37: Chr19:36342706-36342707 GRCh38: Chr19:35851804-35851805	KIRREL2, NPHS1	L12fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172565128.	NM_004646.4(NPHS1):c.2504_2505del (p.Arg835fs) GRCh37: Chr19:36333282-36333283 GRCh38: Chr19:35842380-35842381	NPHS1	R835fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172559229.	NM_004646.4(NPHS1):c.547_548insC (p.Ile183fs) GRCh37: Chr19:36341326-36341327 GRCh38: Chr19:35850424-35850425	NPHS1	I183fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172557830.	NM_004646.4(NPHS1):c.1414_1415delinsA (p.Pro472fs) GRCh37: Chr19:36338968-36338969 GRCh38: Chr19:35848066-35848067	NPHS1	P472fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 172550131.	NM_004646.4(NPHS1):c.483_484del (p.Ser162fs) GRCh37: Chr19:36341905-36341906 GRCh38: Chr19:35851003-35851004	NPHS1	S162fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172537232.	NM_004646.4(NPHS1):c.181_182insTCTT (p.Ala61fs) GRCh37: Chr19:36342451-36342452 GRCh38: Chr19:35851549-35851550	KIRREL2, NPHS1	A61fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172522733.	NM_004646.4(NPHS1):c.641T>A (p.Leu214Ter) GRCh37: Chr19:36340523 GRCh38: Chr19:35849621	NPHS1	L214*	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172507334.	NM_004646.4(NPHS1):c.94del (p.Arg32fs) GRCh37: Chr19:36342539 GRCh38: Chr19:35851637	KIRREL2, NPHS1	R32fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 172473335.	NM_004646.4(NPHS1):c.2354_2355insTCGTCGTGCTGCT (p.Gln785fs) GRCh37: Chr19:36333432-36333433 GRCh38: Chr19:35842530-35842531	NPHS1	Q785fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172458936.	NM_004646.4(NPHS1):c.3352del (p.Gln1118fs) GRCh37: Chr19:36322233 GRCh38: Chr19:35831331	NPHS1	Q1118fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 172446537.	NM_004646.4(NPHS1):c.424_425del (p.Pro142fs) GRCh37: Chr19:36341964-36341965 GRCh38: Chr19:35851062-35851063	NPHS1	P142fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172440838.	NM_004646.4(NPHS1):c.349_357delinsTATA (p.Glu117fs) GRCh37: Chr19:36342204-36342212 GRCh38: Chr19:35851302-35851310	NPHS1	E117fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172440639.	NM_004646.4(NPHS1):c.2114dup (p.His705fs) GRCh37: Chr19:36335102-36335103 GRCh38: Chr19:35844200-35844201	NPHS1	H705fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Nov 11, 2021)	criteria provided, single submitter
Select item 172423040.	NM_004646.4(NPHS1):c.2010_2011del (p.Ser671fs) GRCh37: Chr19:36335281-36335282 GRCh38: Chr19:35844379-35844380	NPHS1	S671fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Nov 8, 2021)	criteria provided, single submitter
Select item 172421341.	NM_004646.4(NPHS1):c.181_182insTT (p.Ala61fs) GRCh37: Chr19:36342451-36342452 GRCh38: Chr19:35851549-35851550	KIRREL2, NPHS1	A61fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172414842.	NM_004646.4(NPHS1):c.3357G>A (p.Trp1119Ter) GRCh37: Chr19:36322228 GRCh38: Chr19:35831326	NPHS1	W1119*	Finnish congenital nephrotic syndrome	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 172413643.	NM_004646.4(NPHS1):c.3224_3228del (p.Leu1075fs) GRCh37: Chr19:36322603-36322607 GRCh38: Chr19:35831701-35831705	NPHS1	L1075fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 172411944.	NM_004646.4(NPHS1):c.2256_2257insAG (p.Val753fs) GRCh37: Chr19:36334451-36334452 GRCh38: Chr19:35843549-35843550	NPHS1	V753fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172240645.	NM_004646.4(NPHS1):c.2587T>C (p.Cys863Arg) GRCh37: Chr19:36333102 GRCh38: Chr19:35842200	NPHS1	C863R	Finnish congenital nephrotic syndrome	Pathogenic (Sep 4, 2022)	criteria provided, single submitter
Select item 170550846.	NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln) GRCh37: Chr19:36339016 GRCh38: Chr19:35848114	NPHS1	R456Q	not provided, Finnish congenital nephrotic syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 164257247.	NM_004646.4(NPHS1):c.2001C>T (p.Pro667=) GRCh37: Chr19:36335291 GRCh38: Chr19:35844389	NPHS1		Finnish congenital nephrotic syndrome, not provided	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161294148.	NM_004646.4(NPHS1):c.3228C>T (p.Ser1076=) GRCh37: Chr19:36322603 GRCh38: Chr19:35831701	NPHS1		Finnish congenital nephrotic syndrome, not provided	Likely benign (Oct 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 161223449.	NM_004646.4(NPHS1):c.1935T>C (p.Arg645=) GRCh37: Chr19:36335357 GRCh38: Chr19:35844455	NPHS1		Finnish congenital nephrotic syndrome, not provided	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159196850.	NM_004646.4(NPHS1):c.429G>A (p.Glu143=) GRCh37: Chr19:36341960 GRCh38: Chr19:35851058	NPHS1		not provided, Finnish congenital nephrotic syndrome	Likely benign (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158776051.	NM_004646.4(NPHS1):c.1012+17G>C GRCh37: Chr19:36339861 GRCh38: Chr19:35848959	NPHS1		not provided, Finnish congenital nephrotic syndrome	Likely benign (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158682752.	NM_004646.4(NPHS1):c.2394G>A (p.Thr798=) GRCh37: Chr19:36333393 GRCh38: Chr19:35842491	NPHS1		not provided, Finnish congenital nephrotic syndrome	Likely benign (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158575153.	NM_004646.4(NPHS1):c.841-12C>G GRCh37: Chr19:36340061 GRCh38: Chr19:35849159	NPHS1		Finnish congenital nephrotic syndrome, not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155725654.	NM_004646.4(NPHS1):c.3594+13G>T GRCh37: Chr19:36321733 GRCh38: Chr19:35830831	NPHS1		not provided, Finnish congenital nephrotic syndrome	Likely benign (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 155704455.	NM_004646.4(NPHS1):c.1131C>T (p.Gly377=) GRCh37: Chr19:36339578 GRCh38: Chr19:35848676	NPHS1		not provided, Finnish congenital nephrotic syndrome	Likely benign (Nov 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 153890256.	NM_004646.4(NPHS1):c.3387+9G>A GRCh37: Chr19:36322189 GRCh38: Chr19:35831287	NPHS1		Finnish congenital nephrotic syndrome, not provided	Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152624657.	NM_004646.4(NPHS1):c.1758-10G>A GRCh37: Chr19:36336452 GRCh38: Chr19:35845550	NPHS1		Finnish congenital nephrotic syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 152622458.	NM_004646.4(NPHS1):c.2765C>A (p.Ala922Asp) GRCh37: Chr19:36332667 GRCh38: Chr19:35841765	NPHS1	A922D	Finnish congenital nephrotic syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 152620059.	NM_004646.4(NPHS1):c.1931-16G>A GRCh37: Chr19:36335377 GRCh38: Chr19:35844475	NPHS1		Finnish congenital nephrotic syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152616360.	NM_004646.4(NPHS1):c.869del (p.Gly290fs) GRCh37: Chr19:36340021 GRCh38: Chr19:35849119	NPHS1	G290fs	Finnish congenital nephrotic syndrome	Pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 152482861.	NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) GRCh37: Chr19:36333098 GRCh38: Chr19:35842196	NPHS1	R864H	Finnish congenital nephrotic syndrome, not provided, not specified, Focal segmental glomerulosclerosis	Uncertain significance (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151836462.	NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln) GRCh37: Chr19:36340454 GRCh38: Chr19:35849552	NPHS1	L237Q	Microscopic hematuria, Finnish congenital nephrotic syndrome, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150905363.	NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met) GRCh37: Chr19:36330252 GRCh38: Chr19:35839350	NPHS1	T999M	not provided, Finnish congenital nephrotic syndrome	Uncertain significance (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150709964.	NM_004646.4(NPHS1):c.3287-2A>C GRCh37: Chr19:36322404 GRCh38: Chr19:35831502	NPHS1		Finnish congenital nephrotic syndrome, not provided	Likely pathogenic (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145187465.	NM_004646.4(NPHS1):c.3482-7A>C GRCh37: Chr19:36321865 GRCh38: Chr19:35830963	NPHS1		not provided, Finnish congenital nephrotic syndrome	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144784366.	NM_004646.4(NPHS1):c.1289A>G (p.Lys430Arg) GRCh37: Chr19:36339181 GRCh38: Chr19:35848279	NPHS1	K430R	not provided, Finnish congenital nephrotic syndrome	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 144476767.	NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe) GRCh37: Chr19:36342547 GRCh38: Chr19:35851645	KIRREL2, NPHS1	S29F	not provided, Finnish congenital nephrotic syndrome	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142267768.	NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) GRCh37: Chr19:36339161 GRCh38: Chr19:35848259	NPHS1	V437I	Finnish congenital nephrotic syndrome, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142238369.	NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr) GRCh37: Chr19:36333156 GRCh38: Chr19:35842254	NPHS1	P845T	Finnish congenital nephrotic syndrome, not provided, Inborn genetic diseases	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142174270.	NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) GRCh37: Chr19:36332763 GRCh38: Chr19:35841861	NPHS1	T890M	Finnish congenital nephrotic syndrome, not provided	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141568171.	NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser) GRCh37: Chr19:36337051 GRCh38: Chr19:35846149	NPHS1	R496S	Finnish congenital nephrotic syndrome, not provided, Microscopic hematuria	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 141381972.	NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs) GRCh37: Chr19:36330257-36330258 GRCh38: Chr19:35839355-35839356	NPHS1	F998fs	Finnish congenital nephrotic syndrome, not provided	Pathogenic/Likely pathogenic (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135998073.	NM_004646.4(NPHS1):c.2335-11T>A GRCh37: Chr19:36333463 GRCh38: Chr19:35842561	NPHS1		not provided, Finnish congenital nephrotic syndrome	Uncertain significance (Nov 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134464674.	NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu) GRCh37: Chr19:36340250 GRCh38: Chr19:35849348	NPHS1	P243L	Finnish congenital nephrotic syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 133920675.	NM_004646.4(NPHS1):c.2459A>G (p.Asn820Ser) GRCh37: Chr19:36333328 GRCh38: Chr19:35842426	NPHS1	N820S	Finnish congenital nephrotic syndrome	Uncertain significance	criteria provided, single submitter
Select item 133920576.	NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) GRCh37: Chr19:36333089 GRCh38: Chr19:35842187	NPHS1	G867D	not provided, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis	Pathogenic/Likely pathogenic (Mar 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133911077.	NM_004646.4(NPHS1):c.3286G>A (p.Gly1096Ser) GRCh37: Chr19:36322545 GRCh38: Chr19:35831643	NPHS1	G1096S	Finnish congenital nephrotic syndrome	Uncertain significance	criteria provided, single submitter
Select item 133908578.	NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser) GRCh37: Chr19:36340184 GRCh38: Chr19:35849282	NPHS1	C265S	not provided, Finnish congenital nephrotic syndrome	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 133416379.	NM_004646.4(NPHS1):c.146T>G (p.Val49Gly) GRCh37: Chr19:36342487 GRCh38: Chr19:35851585	KIRREL2, NPHS1	V49G	Finnish congenital nephrotic syndrome	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 133359580.	NM_004646.4(NPHS1):c.2402T>A (p.Leu801Gln) GRCh37: Chr19:36333385 GRCh38: Chr19:35842483	NPHS1	L801Q	Finnish congenital nephrotic syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 133330681.	NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) GRCh37: Chr19:36333099 GRCh38: Chr19:35842197	NPHS1	R864C	not provided, Finnish congenital nephrotic syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132815782.	NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys) GRCh37: Chr19:36330318 GRCh38: Chr19:35839416	NPHS1	Y977C	Finnish congenital nephrotic syndrome	Likely pathogenic (May 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132481883.	NM_004646.4(NPHS1):c.1434G>A (p.Trp478Ter) GRCh37: Chr19:36338949 GRCh38: Chr19:35848047	NPHS1	W478*	Finnish congenital nephrotic syndrome	Likely pathogenic (May 27, 2021)	criteria provided, single submitter
Select item 130189084.	NM_004646.4(NPHS1):c.621del (p.Ser208fs) GRCh37: Chr19:36340543 GRCh38: Chr19:35849641	NPHS1	S208fs	Finnish congenital nephrotic syndrome	Pathogenic/Likely pathogenic (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130167085.	NM_004646.4(NPHS1):c.2071+1G>T GRCh37: Chr19:36335220 GRCh38: Chr19:35844318	NPHS1		not provided, Finnish congenital nephrotic syndrome	Likely pathogenic (Dec 17, 2022)	criteria provided, single submitter
Select item 130135386.	NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser) GRCh37: Chr19:36339236 GRCh38: Chr19:35848334	NPHS1	G412S	not specified, Finnish congenital nephrotic syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126080987.	NM_004646.4(NPHS1):c.-489GA[10] GRCh37: Chr19:36343207-36343208 GRCh38: Chr19:35852305-35852306	KIRREL2, NPHS1		not provided	Benign (Aug 20, 2019)	criteria provided, single submitter
Select item 122282288.	NM_004646.4(NPHS1):c.1012+68A>G GRCh37: Chr19:36339810 GRCh38: Chr19:35848908	NPHS1		not provided	Benign (Nov 20, 2019)	criteria provided, single submitter
Select item 121044489.	NM_004646.4(NPHS1):c.2177del (p.Gly726fs) GRCh37: Chr19:36335040 GRCh38: Chr19:35844138	NPHS1	G726fs	Finnish congenital nephrotic syndrome	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 121044390.	NM_004646.4(NPHS1):c.610G>A (p.Val204Met) GRCh37: Chr19:36340554 GRCh38: Chr19:35849652	NPHS1	V204M	Finnish congenital nephrotic syndrome, not provided	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120963491.	NM_004646.4(NPHS1):c.10G>A (p.Gly4Arg) GRCh37: Chr19:36342730 GRCh38: Chr19:35851828	KIRREL2, NPHS1	G4R	Finnish congenital nephrotic syndrome	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120963392.	NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala) GRCh37: Chr19:36332671 GRCh38: Chr19:35841769	NPHS1	T921A	Inborn genetic diseases, Finnish congenital nephrotic syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 120963293.	NM_004646.4(NPHS1):c.2637G>T (p.Gly879=) GRCh37: Chr19:36333052 GRCh38: Chr19:35842150	NPHS1		Finnish congenital nephrotic syndrome, not provided	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120963194.	NM_004646.4(NPHS1):c.1168G>T (p.Asp390Tyr) GRCh37: Chr19:36339541 GRCh38: Chr19:35848639	NPHS1	D390Y	Finnish congenital nephrotic syndrome	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119323295.	NM_004646.4(NPHS1):c.2927+24G>C GRCh37: Chr19:36330374 GRCh38: Chr19:35839472	NPHS1		not provided	Likely benign (Nov 6, 2020)	criteria provided, single submitter
Select item 117904796.	NM_004646.4(NPHS1):c.2927+2T>A GRCh37: Chr19:36330396 GRCh38: Chr19:35839494	NPHS1		Finnish congenital nephrotic syndrome	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 117296597.	NM_004646.4(NPHS1):c.397+61A>G GRCh37: Chr19:36342103 GRCh38: Chr19:35851201	NPHS1		Finnish congenital nephrotic syndrome, not provided	Benign (Jun 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117296498.	NM_004646.4(NPHS1):c.1171-86C>T GRCh37: Chr19:36339385 GRCh38: Chr19:35848483	NPHS1		not provided, Finnish congenital nephrotic syndrome	Benign (Jun 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117296399.	NM_004646.4(NPHS1):c.3286+36C>T GRCh37: Chr19:36322509 GRCh38: Chr19:35831607	NPHS1		not provided, Finnish congenital nephrotic syndrome	Benign (Jun 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1172962100.	NM_004646.4(NPHS1):c.3287-54C>T GRCh37: Chr19:36322456 GRCh38: Chr19:35831554	NPHS1		not provided, Finnish congenital nephrotic syndrome	Benign (Jun 10, 2021)	criteria provided, multiple submitters, no conflicts

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