ClinVar for MedGen (Select 4904) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 280

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17124071.	NM_002909.5(REG1A):c.80C>G (p.Thr27Arg) GRCh37: Chr2:79348703 GRCh38: Chr2:79121577	REG1A	T27R	Focal segmental glomerulosclerosis	Uncertain significance (Nov 1, 2017)	criteria provided, single submitter
Select item 17124062.	NM_000186.4(CFH):c.773C>T (p.Pro258Leu) GRCh37: Chr1:196648906 GRCh38: Chr1:196679776	CFH	P258L	Focal segmental glomerulosclerosis, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17124053.	NM_016341.4(PLCE1):c.-10T>G GRCh37: Chr10:95790794 GRCh38: Chr10:94031037	PLCE1		Focal segmental glomerulosclerosis	Uncertain significance (Oct 1, 2018)	criteria provided, single submitter
Select item 17124044.	NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly) GRCh37: Chr2:217279780 GRCh38: Chr2:216415057	SMARCAL1	A118G	Focal segmental glomerulosclerosis, Schimke immuno-osseous dysplasia	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 17124035.	NM_020381.4(PDSS2):c.31C>T (p.Pro11Ser) GRCh37: Chr6:107780459 GRCh38: Chr6:107459255	PDSS2	P11S	Focal segmental glomerulosclerosis	Uncertain significance (Nov 1, 2019)	criteria provided, single submitter
Select item 17124026.	NM_012120.3(CD2AP):c.429A>C (p.Glu143Asp) GRCh37: Chr6:47522390 GRCh38: Chr6:47554654	CD2AP	E143D	Focal segmental glomerulosclerosis	Uncertain significance (Mar 1, 2020)	criteria provided, single submitter
Select item 17124017.	NM_012120.3(CD2AP):c.428A>G (p.Glu143Gly) GRCh37: Chr6:47522389 GRCh38: Chr6:47554653	CD2AP	E143G	Focal segmental glomerulosclerosis	Uncertain significance (Mar 1, 2020)	criteria provided, single submitter
Select item 17124008.	NM_006642.5(SDCCAG8):c.495dup (p.Ser166fs) GRCh37: Chr1:243449644-243449645 GRCh38: Chr1:243286342-243286343	SDCCAG8	S166fs, S68fs	Focal segmental glomerulosclerosis	Likely pathogenic (Apr 1, 2020)	criteria provided, single submitter
Select item 17123999.	NM_014625.4(NPHS2):c.947C>G (p.Pro316Arg) GRCh37: Chr1:179520513 GRCh38: Chr1:179551378	AXDND1, NPHS2	P248R, P316R	Focal segmental glomerulosclerosis	Uncertain significance (Mar 1, 2020)	criteria provided, single submitter
Select item 171239810.	NM_012120.3(CD2AP):c.1471G>A (p.Ala491Thr) GRCh37: Chr6:47573954 GRCh38: Chr6:47606218	CD2AP	A491T	Focal segmental glomerulosclerosis	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 171239711.	NM_004646.4(NPHS1):c.59-9T>G GRCh37: Chr19:36342583 GRCh38: Chr19:35851681	KIRREL2, NPHS1		Focal segmental glomerulosclerosis	Uncertain significance (Dec 1, 2019)	criteria provided, single submitter
Select item 171239612.	NM_004924.6(ACTN4):c.1443-7C>T GRCh37: Chr19:39214247 GRCh38: Chr19:38723607	ACTN4		Focal segmental glomerulosclerosis	Uncertain significance (Mar 1, 2020)	criteria provided, single submitter
Select item 171239513.	NM_004646.4(NPHS1):c.3181C>T (p.Pro1061Ser) GRCh37: Chr19:36322650 GRCh38: Chr19:35831748	NPHS1	P1061S	Focal segmental glomerulosclerosis	Uncertain significance (Jul 27, 2020)	criteria provided, single submitter
Select item 171239414.	NM_004621.6(TRPC6):c.2668G>C (p.Asp890His) GRCh37: Chr11:101323814 GRCh38: Chr11:101453083	TRPC6	D890H	Focal segmental glomerulosclerosis	Uncertain significance (Jul 1, 2020)	criteria provided, single submitter
Select item 171239315.	NM_004924.6(ACTN4):c.459C>A (p.Phe153Leu) GRCh37: Chr19:39195635 GRCh38: Chr19:38704995	ACTN4	F153L	Focal segmental glomerulosclerosis	Uncertain significance (Dec 15, 2020)	criteria provided, single submitter
Select item 171239216.	NM_004646.4(NPHS1):c.2517G>A (p.Gln839=) GRCh37: Chr19:36333172 GRCh38: Chr19:35842270	NPHS1		Focal segmental glomerulosclerosis, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 171239117.	NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr) GRCh37: Chr19:36333146 GRCh38: Chr19:35842244	NPHS1	K848T	Focal segmental glomerulosclerosis, not provided	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171238918.	NM_004924.6(ACTN4):c.2338-3C>T GRCh37: Chr19:39218583 GRCh38: Chr19:38727943	ACTN4		Focal segmental glomerulosclerosis	Uncertain significance (Jul 23, 2020)	criteria provided, single submitter
Select item 171238819.	NM_012120.3(CD2AP):c.297A>G (p.Pro99=) GRCh37: Chr6:47501469 GRCh38: Chr6:47533733	CD2AP		Focal segmental glomerulosclerosis	Likely benign (May 26, 2021)	criteria provided, single submitter
Select item 171238720.	NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His) GRCh37: Chr2:217285124 GRCh38: Chr2:216420401	SMARCAL1	L322H	Schimke immuno-osseous dysplasia, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 171238621.	NM_002292.4(LAMB2):c.4759C>T (p.Leu1587=) GRCh37: Chr3:49159618 GRCh38: Chr3:49122185	LAMB2		Focal segmental glomerulosclerosis	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 171238522.	NM_004924.6(ACTN4):c.1229G>A (p.Arg410Gln) GRCh37: Chr19:39208652 GRCh38: Chr19:38718012	ACTN4	R410Q	Focal segmental glomerulosclerosis	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 171238423.	NM_004646.4(NPHS1):c.17C>G (p.Thr6Arg) GRCh37: Chr19:36342723 GRCh38: Chr19:35851821	KIRREL2, NPHS1	T6R	Focal segmental glomerulosclerosis	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 171238324.	NM_004646.4(NPHS1):c.2512C>T (p.Pro838Ser) GRCh37: Chr19:36333177 GRCh38: Chr19:35842275	NPHS1	P838S	Focal segmental glomerulosclerosis	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 171238225.	NM_004621.6(TRPC6):c.376G>T (p.Val126Phe) GRCh37: Chr11:101375324 GRCh38: Chr11:101504593	TRPC6	V126F	Focal segmental glomerulosclerosis	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 171238126.	NM_002292.4(LAMB2):c.815A>G (p.Tyr272Cys) GRCh37: Chr3:49168483 GRCh38: Chr3:49131050	LAMB2	Y272C	Focal segmental glomerulosclerosis	Uncertain significance (Mar 25, 2021)	criteria provided, single submitter
Select item 171238027.	NM_002292.4(LAMB2):c.1156T>C (p.Cys386Arg) GRCh37: Chr3:49167733 GRCh38: Chr3:49130300	LAMB2	C386R	Focal segmental glomerulosclerosis	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 171237928.	NM_004924.6(ACTN4):c.2315C>T (p.Ala772Val) GRCh37: Chr19:39217721 GRCh38: Chr19:38727081	ACTN4	A772V	Focal segmental glomerulosclerosis	Uncertain significance (Jan 27, 2021)	criteria provided, single submitter
Select item 171237829.	NM_004621.6(TRPC6):c.1156C>T (p.Gln386Ter) GRCh37: Chr11:101359805 GRCh38: Chr11:101489074	TRPC6	Q386*	Focal segmental glomerulosclerosis	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 171237730.	NM_004646.4(NPHS1):c.888G>T (p.Ala296=) GRCh37: Chr19:36340002 GRCh38: Chr19:35849100	NPHS1		Focal segmental glomerulosclerosis	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 171237531.	NM_016341.4(PLCE1):c.3815-8T>C GRCh37: Chr10:96022243 GRCh38: Chr10:94262486	PLCE1		not provided, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 171237232.	NM_004621.6(TRPC6):c.1196G>A (p.Arg399Gln) GRCh37: Chr11:101359765 GRCh38: Chr11:101489034	TRPC6	R399Q	Focal segmental glomerulosclerosis	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 171237133.	NM_004621.6(TRPC6):c.2408A>G (p.Lys803Arg) GRCh37: Chr11:101341915 GRCh38: Chr11:101471184	TRPC6	K803R	Focal segmental glomerulosclerosis	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 171236934.	NM_004621.6(TRPC6):c.2346dup (p.Trp783fs) GRCh37: Chr11:101341976-101341977 GRCh38: Chr11:101471245-101471246	TRPC6	W783fs	Focal segmental glomerulosclerosis	Likely pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 171236835.	NM_004646.4(NPHS1):c.3238T>A (p.Cys1080Ser) GRCh37: Chr19:36322593 GRCh38: Chr19:35831691	NPHS1	C1080S	Inborn genetic diseases, Focal segmental glomerulosclerosis	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169896136.	NM_022489.4(INF2):c.607G>A (p.Ala203Thr) GRCh37: Chr14:105169731 GRCh38: Chr14:104703394	INF2	A203T	Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167370137.	NM_004621.6(TRPC6):c.996C>T (p.Leu332=) GRCh37: Chr11:101362419 GRCh38: Chr11:101491688	TRPC6		Focal segmental glomerulosclerosis 2, not provided, Focal segmental glomerulosclerosis	Benign/Likely benign (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165729138.	NM_004646.4(NPHS1):c.1734G>A (p.Leu578=) GRCh37: Chr19:36336594 GRCh38: Chr19:35845692	NPHS1		Focal segmental glomerulosclerosis, not provided	Conflicting interpretations of pathogenicity (Jan 3, 2022)	criteria provided, conflicting interpretations
Select item 161344739.	NM_022489.4(INF2):c.3435C>T (p.Ala1145=) GRCh37: Chr14:105180934 GRCh38: Chr14:104714597	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis	Likely benign (Feb 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 161138140.	NM_002292.4(LAMB2):c.1575C>T (p.Asp525=) GRCh37: Chr3:49166701 GRCh38: Chr3:49129268	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 155133041.	NM_004924.6(ACTN4):c.2520C>T (p.Thr840=) GRCh37: Chr19:39219737 GRCh38: Chr19:38729097	ACTN4		Focal segmental glomerulosclerosis 1, not provided, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Jun 5, 2022)	criteria provided, conflicting interpretations
Select item 152482842.	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 152081143.	NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met) GRCh37: Chr9:129458674 GRCh38: Chr9:126696395	LMX1B	V389M, V378M, V385M	not provided, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Nov 23, 2021)	criteria provided, conflicting interpretations
Select item 134483044.	NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter) GRCh37: Chr10:104416916 GRCh38: Chr10:102657159	TRIM8	Y455, Y487	Seizure, Neurodevelopmental delay, Focal segmental glomerulosclerosis	Likely pathogenic (Jan 27, 2021)	no assertion criteria provided
Select item 134482945.	NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter) GRCh37: Chr10:104416695 GRCh38: Chr10:102656938	TRIM8	Q382, Q414	Seizure, Neurodevelopmental delay, Focal segmental glomerulosclerosis	Likely pathogenic (Jan 27, 2021)	no assertion criteria provided
Select item 134482746.	NM_006901.4(MYO9A):c.1166C>T (p.Thr389Met) GRCh37: Chr15:72302778 GRCh38: Chr15:72010437	MYO9A	T389M	Focal segmental glomerulosclerosis	Uncertain significance (Jan 4, 2021)	no assertion criteria provided
Select item 134482647.	NM_006901.4(MYO9A):c.2295G>C (p.Glu765Asp) GRCh37: Chr15:72244125 GRCh38: Chr15:71951784	MYO9A	E765D	Focal segmental glomerulosclerosis	Uncertain significance (Jan 4, 2021)	no assertion criteria provided
Select item 134482548.	NM_006901.4(MYO9A):c.467A>G (p.Asp156Gly) GRCh37: Chr15:72338438 GRCh38: Chr15:72046097	MYO9A	D156G	Focal segmental glomerulosclerosis	Uncertain significance (Jan 4, 2021)	no assertion criteria provided
Select item 134467449.	NM_000278.5(PAX2):c.275C>T (p.Thr92Met) GRCh37: Chr10:102510513 GRCh38: Chr10:100750756	PAX2	T123M, T92M	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis	Likely pathogenic (Apr 17, 2019)	no assertion criteria provided
Select item 134467350.	NM_000278.5(PAX2):c.254G>T (p.Gly85Val) GRCh37: Chr10:102510492 GRCh38: Chr10:100750735	PAX2	G116V, G85V	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis	Likely pathogenic (Apr 17, 2019)	no assertion criteria provided
Select item 134464151.	NM_022489.4(INF2):c.542T>G (p.Val181Gly) GRCh37: Chr14:105169666 GRCh38: Chr14:104703329	INF2	V181G	Focal segmental glomerulosclerosis	Pathogenic (Jan 17, 2019)	no assertion criteria provided
Select item 134286552.	NM_000092.5(COL4A4):c.412dup (p.Met138fs) GRCh37: Chr2:227983437-227983438 GRCh38: Chr2:227118721-227118722	COL4A4	M138fs	Focal segmental glomerulosclerosis	Likely pathogenic (Dec 1, 2021)	no assertion criteria provided
Select item 133920553.	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 133026254.	NM_001025616.3(ARHGAP24):c.509A>C (p.Glu170Ala) GRCh37: Chr4:86863336 GRCh38: Chr4:85942183	ARHGAP24	E170A, E75A, E77A, E85A	Focal segmental glomerulosclerosis	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 121022555.	NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser) GRCh37: Chr10:96018597 GRCh38: Chr10:94258840	PLCE1	G1183S, G1199S, G891S	Proteinuria, Focal segmental glomerulosclerosis, Kidney disorder, not provided	Conflicting interpretations of pathogenicity (Apr 11, 2022)	criteria provided, conflicting interpretations
Select item 121022456.	NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) GRCh37: Chr14:105179631 GRCh38: Chr14:104713294	INF2	E955Q	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis	Uncertain significance (Feb 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121022157.	NM_016341.4(PLCE1):c.6640G>A (p.Asp2214Asn) GRCh37: Chr10:96084244 GRCh38: Chr10:94324487	NOC3L, PLCE1	D1906N, D2198N, D2214N	Focal segmental glomerulosclerosis	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 119163958.	NM_022489.4(INF2):c.1377G>C (p.Pro459=) GRCh37: Chr14:105173981 GRCh38: Chr14:104707644	INF2		not provided, Focal segmental glomerulosclerosis	Likely benign (Mar 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118905459.	NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter) GRCh37: Chr10:104416788 GRCh38: Chr10:102657031	TRIM8	Q413*	Seizure, Focal segmental glomerulosclerosis, Neurodevelopmental delay, Focal segmental glomerulosclerosis and neurodevelopmental syndrome	Pathogenic/Likely pathogenic (Aug 4, 2021)	no assertion criteria provided
Select item 118905260.	NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter) GRCh37: Chr10:104416686 GRCh38: Chr10:102656929	TRIM8	Q379*	Seizure, Focal segmental glomerulosclerosis, Neurodevelopmental delay, Focal segmental glomerulosclerosis and neurodevelopmental syndrome	Pathogenic/Likely pathogenic (Aug 4, 2021)	no assertion criteria provided
Select item 118905061.	NM_030912.3(TRIM8):c.1163del (p.Phe388fs) GRCh37: Chr10:104416616 GRCh38: Chr10:102656859	TRIM8	F356fs, F388fs	Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Seizure, Focal segmental glomerulosclerosis, Neurodevelopmental delay	Pathogenic/Likely pathogenic (Aug 4, 2021)	no assertion criteria provided
Select item 118904862.	NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter) GRCh37: Chr10:104416835 GRCh38: Chr10:102657078	TRIM8	Y428*	Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Seizure, Focal segmental glomerulosclerosis, Neurodevelopmental delay	Pathogenic/Likely pathogenic (Aug 4, 2021)	no assertion criteria provided
Select item 117906863.	NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) GRCh37: Chr1:243433438-243433439 GRCh38: Chr1:243270136-243270137	SDCCAG8	A35fs	Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Focal segmental glomerulosclerosis	Pathogenic/Likely pathogenic (Jun 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117093364.	NM_004924.6(ACTN4):c.2010+9C>T GRCh37: Chr19:39215214 GRCh38: Chr19:38724574	ACTN4		Focal segmental glomerulosclerosis, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117055565.	NM_004924.6(ACTN4):c.2191-5C>T GRCh37: Chr19:39217592 GRCh38: Chr19:38726952	ACTN4		Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis, not provided	Benign/Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116951866.	NM_022489.4(INF2):c.1929C>T (p.Ile643=) GRCh37: Chr14:105175049 GRCh38: Chr14:104708712	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis	Benign/Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112390467.	NM_004924.6(ACTN4):c.1174C>G (p.Gln392Glu) GRCh37: Chr19:39208597 GRCh38: Chr19:38717957	ACTN4	Q392E	Focal segmental glomerulosclerosis, not provided	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 112017568.	NM_003661.3:c.[1024A>G;1152T>G];[1164_1169delTTATAA] GRCh37: Chr22:36662034 Chr22:36661906 GRCh38: Chr22:36265988 Chr22:36265860	APOL1, APOL1	I400M, I384M, I366M, S358G, S342G, S324G	Hyalinosis, Segmental Glomerular	risk factor (Mar 4, 2020)	criteria provided, single submitter
Select item 103110269.	NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser) GRCh37: Chr15:72186052 GRCh38: Chr15:71893711	MYO9A	P1704S	Myasthenic syndrome, congenital, 24, presynaptic	Uncertain significance (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99476770.	NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) GRCh37: Chr19:39220016 GRCh38: Chr19:38729376	ACTN4	G889S, G894S	not provided, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Feb 9, 2023)	criteria provided, conflicting interpretations
Select item 98815971.	NM_024876.4(COQ8B):c.538C>T (p.Arg180Cys) GRCh37: Chr19:41211039 GRCh38: Chr19:40705134	COQ8B	R139C, R180C	Focal segmental glomerulosclerosis	Uncertain significance (Jun 14, 2019)	no assertion criteria provided
Select item 98685772.	NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter) GRCh37: Chr10:104416722 GRCh38: Chr10:102656965	TRIM8	Q391, Q423	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 96446573.	NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) GRCh37: Chr2:227896866 GRCh38: Chr2:227032150	COL4A4	P1235fs	Benign familial hematuria, Autosomal recessive Alport syndrome, not provided	Pathogenic (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93019574.	NM_002473.6(MYH9):c.4358A>G (p.Glu1453Gly) GRCh37: Chr22:36685330 GRCh38: Chr22:36289284	MYH9	E1453G	Focal segmental glomerulosclerosis, Nephrotic syndrome	Uncertain significance (Oct 7, 2021)	criteria provided, single submitter
Select item 84442275.	NM_033380.3(COL4A5):c.1815del (p.Asn607fs) GRCh37: ChrX:107841967 GRCh38: ChrX:108598737	COL4A5	N607fs	not provided	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 81290476.	NM_014669.5(NUP93):c.1909A>G (p.Lys637Glu) GRCh37: Chr16:56871529 GRCh38: Chr16:56837617	NUP93	K514E, K637E	Focal segmental glomerulosclerosis	Likely pathogenic	no assertion criteria provided
Select item 81290377.	NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn) GRCh37: Chr11:101323814 GRCh38: Chr11:101453083	TRPC6	D890N	Focal segmental glomerulosclerosis	Likely pathogenic	no assertion criteria provided
Select item 79101378.	NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) GRCh37: Chr2:217311806 GRCh38: Chr2:216447083	SMARCAL1		Schimke immuno-osseous dysplasia, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 76937179.	NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn) GRCh37: Chr10:96006281 GRCh38: Chr10:94246524	PLCE1	S1000N, S692N	Nephrotic syndrome, type 3, Polycystic kidney dysplasia, Focal segmental glomerulosclerosis, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 76030780.	NM_004646.4(NPHS1):c.3110-5C>T GRCh37: Chr19:36326668 GRCh38: Chr19:35835766	NPHS1		Focal segmental glomerulosclerosis, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 74167081.	NM_014625.4(NPHS2):c.372C>T (p.Cys124=) GRCh37: Chr1:179533831 GRCh38: Chr1:179564696	NPHS2		Focal segmental glomerulosclerosis, not provided	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 72532382.	NM_004621.6(TRPC6):c.837C>T (p.Gly279=) GRCh37: Chr11:101374863 GRCh38: Chr11:101504132	TRPC6		Focal segmental glomerulosclerosis, not provided	Benign/Likely benign (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 72417883.	NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) GRCh37: Chr19:36340175 GRCh38: Chr19:35849273	NPHS1	R268Q	not provided, Congenital nephrotic syndrome, Focal segmental glomerulosclerosis	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72078284.	NM_004646.4(NPHS1):c.1908C>T (p.Ser636=) GRCh37: Chr19:36336292 GRCh38: Chr19:35845390	NPHS1		not provided, Congenital nephrotic syndrome, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 72078185.	NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser) GRCh37: Chr19:36317544 GRCh38: Chr19:35826642	NPHS1	P1200S	not provided, Congenital nephrotic syndrome, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 71861586.	NM_020381.4(PDSS2):c.1146G>A (p.Ser382=) GRCh37: Chr6:107475877 GRCh38: Chr6:107154673	PDSS2		not provided, Focal segmental glomerulosclerosis	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 71670087.	NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) GRCh37: Chr19:36326643 GRCh38: Chr19:35835741	NPHS1	E1044K	Inborn genetic diseases, Congenital nephrotic syndrome, Focal segmental glomerulosclerosis, not provided	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 71647888.	NM_004646.4(NPHS1):c.840+6G>A GRCh37: Chr19:36340132 GRCh38: Chr19:35849230	NPHS1		Congenital nephrotic syndrome, Focal segmental glomerulosclerosis, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71647789.	NM_004646.4(NPHS1):c.1758-8T>G GRCh37: Chr19:36336450 GRCh38: Chr19:35845548	NPHS1		not specified, Congenital nephrotic syndrome, Focal segmental glomerulosclerosis, not provided	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 71014490.	NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) GRCh37: Chr19:39208641 GRCh38: Chr19:38718001	ACTN4		Focal segmental glomerulosclerosis 1, not provided, Focal segmental glomerulosclerosis	Benign/Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70545391.	NM_022489.4(INF2):c.354C>T (p.Ile118=) GRCh37: Chr14:105168056 GRCh38: Chr14:104701719	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis	Likely benign (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63508592.	NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) GRCh37: Chr10:96044661-96044664 GRCh38: Chr10:94284904-94284907	PLCE1, PLCE1-AS1	Q1660fs, Q1352fs, Q1644fs	not provided, Nephrotic syndrome, type 3	Pathogenic/Likely pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59912693.	NM_024426.6(WT1):c.1180C>T (p.Arg394Cys) GRCh37: Chr11:32417887 GRCh38: Chr11:32396341	WT1	R177C, R394C, R377C, R160C, R336C, R353C, R140C, R372C, R392C	Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome, Nephrotic syndrome, type 4, Focal segmental glomerulosclerosis	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 59912394.	NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr) GRCh37: Chr19:39208702 GRCh38: Chr19:38718062	ACTN4	A427T	not provided, Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis 1	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 59910095.	NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) GRCh37: Chr11:32413577 GRCh38: Chr11:32392031	WT1	R246Q, R463Q, R67Q, R446Q, R229Q, R405Q, R422Q, R209Q, R416Q, R461Q, R441Q	Wilms tumor 1, 11p partial monosomy syndrome, Aniridia 1, Nephrotic syndrome, type 4, Drash syndrome, Frasier syndrome, Mesothelioma, malignant, Meacham syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndromeFrasier syndrome, Nephrotic syndrome, type 4, Focal segmental glomerulosclerosis, ...see more	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 59690396.	NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln) GRCh37: Chr1:179526191 GRCh38: Chr1:179557056	NPHS2	E237Q	not provided, Nephrotic syndrome, type 2, Focal segmental glomerulosclerosis, not specified	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 58536197.	NM_004924.6(ACTN4):c.2400C>T (p.Asp800=) GRCh37: Chr19:39218648 GRCh38: Chr19:38728008	ACTN4		Focal segmental glomerulosclerosis, not provided, Focal segmental glomerulosclerosis 1	Benign/Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58444298.	NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) GRCh37: Chr10:104416830 GRCh38: Chr10:102657073	TRIM8	Q459, Q427	TRIM8-related epileptic encephalopathy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Dec 2, 2021)	criteria provided, conflicting interpretations
Select item 55896799.	NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) GRCh37: Chr6:74320205 GRCh38: Chr6:73610482	SLC17A5	V393I	not provided, Inborn genetic diseases, Sialic acid storage disease, severe infantile type, Focal segmental glomerulosclerosis, Salla disease	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 556556100.	NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) GRCh37: Chr1:179526186 GRCh38: Chr1:179557051	NPHS2	R238S	not provided, Focal segmental glomerulosclerosis, Nephrotic syndrome, type 2	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 3