ClinVar for MedGen (Select 928336) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25741451.	NM_022489.4(INF2):c.286del (p.Leu96fs) GRCh37: Chr14:105167986 GRCh38: Chr14:104701649	INF2	L96fs	Charcot-Marie-Tooth disease dominant intermediate E	Likely pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 24267662.	NC_000014.8:g.(?_105172352)_(105181676_?)dup GRCh37: Chr14:105172352-105181676	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 24267653.	NC_000014.8:g.(?_105167703)_(105861009_?)del GRCh37: Chr14:105167703-105861009	INF2, CDCA4, PLD4, NUDT14, ZBTB42, AHNAK2, JAG2, AKT1, CEP170B, ADSS1, GPR132, BTBD6, PACS2, SIVA1, CLBA1, BRF1		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 24206244.	NM_022489.4(INF2):c.2397G>A (p.Thr799=) GRCh37: Chr14:105177502 GRCh38: Chr14:104711165	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 24153465.	NM_022489.4(INF2):c.954C>T (p.Leu318=) GRCh37: Chr14:105173357 GRCh38: Chr14:104707020	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 22003876.	NM_022489.4(INF2):c.1888-10G>T GRCh37: Chr14:105174998 GRCh38: Chr14:104708661	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 21989317.	NM_022489.4(INF2):c.630C>T (p.Asp210=) GRCh37: Chr14:105169754 GRCh38: Chr14:104703417	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Benign (Aug 21, 2022)	criteria provided, single submitter
Select item 21964718.	NM_022489.4(INF2):c.1225T>A (p.Ser409Thr) GRCh37: Chr14:105173829 GRCh38: Chr14:104707492	INF2	S409T	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 21956219.	NM_022489.4(INF2):c.270A>T (p.Ala90=) GRCh37: Chr14:105167972 GRCh38: Chr14:104701635	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 219536710.	NM_022489.4(INF2):c.623C>A (p.Pro208His) GRCh37: Chr14:105169747 GRCh38: Chr14:104703410	INF2	P208H	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 219179011.	NM_022489.4(INF2):c.2418+7C>T GRCh37: Chr14:105177530 GRCh38: Chr14:104711193	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 218607012.	NM_022489.4(INF2):c.1698G>A (p.Lys566=) GRCh37: Chr14:105174302 GRCh38: Chr14:104707965	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 218519013.	NM_022489.4(INF2):c.1020G>T (p.Arg340=) GRCh37: Chr14:105173624 GRCh38: Chr14:104707287	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 218494714.	NM_022489.4(INF2):c.3228T>C (p.Ser1076=) GRCh37: Chr14:105180727 GRCh38: Chr14:104714390	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 218349215.	NM_022489.4(INF2):c.1341C>T (p.Pro447=) GRCh37: Chr14:105173945 GRCh38: Chr14:104707608	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 218310516.	NM_022489.4(INF2):c.3261C>A (p.Thr1087=) GRCh37: Chr14:105180760 GRCh38: Chr14:104714423	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 217964217.	NM_022489.4(INF2):c.2240-16C>T GRCh37: Chr14:105177258 GRCh38: Chr14:104710921	INF2		not specified, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Conflicting interpretations of pathogenicity (Mar 27, 2023)	criteria provided, conflicting interpretations
Select item 217941618.	NM_022489.4(INF2):c.923G>A (p.Ser308Asn) GRCh37: Chr14:105173326 GRCh38: Chr14:104706989	INF2	S308N	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 217405619.	NM_022489.4(INF2):c.490G>A (p.Ala164Thr) GRCh37: Chr14:105169540 GRCh38: Chr14:104703203	INF2	A164T	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 217362020.	NM_022489.4(INF2):c.3249C>T (p.Ser1083=) GRCh37: Chr14:105180748 GRCh38: Chr14:104714411	INF2		not provided, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Conflicting interpretations of pathogenicity (Nov 15, 2022)	criteria provided, conflicting interpretations
Select item 217266721.	NM_022489.4(INF2):c.1852A>T (p.Met618Leu) GRCh37: Chr14:105174889 GRCh38: Chr14:104708552	INF2	M618L	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 217044022.	NM_022489.4(INF2):c.3040+18_3040+23dup GRCh37: Chr14:105179959-105179960 GRCh38: Chr14:104713622-104713623	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 216708023.	NM_022489.4(INF2):c.1257C>T (p.Ser419=) GRCh37: Chr14:105173861 GRCh38: Chr14:104707524	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 216699024.	NM_022489.4(INF2):c.1217_1228del (p.Leu406_Ser409del) GRCh37: Chr14:105173820-105173831 GRCh38: Chr14:104707483-104707494	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 216512125.	NM_022489.4(INF2):c.3731A>G (p.Lys1244Arg) GRCh37: Chr14:105181657 GRCh38: Chr14:104715320	INF2	K1244R	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 216502026.	NM_022489.4(INF2):c.2418+16G>C GRCh37: Chr14:105177539 GRCh38: Chr14:104711202	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 216453127.	NM_022489.4(INF2):c.2419-12G>A GRCh37: Chr14:105177954 GRCh38: Chr14:104711617	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 216386728.	NM_022489.4(INF2):c.2625C>T (p.Ala875=) GRCh37: Chr14:105179179 GRCh38: Chr14:104712842	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Feb 15, 2022)	criteria provided, single submitter
Select item 216155329.	NM_022489.4(INF2):c.702-11C>T GRCh37: Chr14:105172361 GRCh38: Chr14:104706024	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 216096130.	NM_022489.4(INF2):c.1664G>A (p.Arg555Gln) GRCh37: Chr14:105174268 GRCh38: Chr14:104707931	INF2	R555Q	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 215922031.	NM_022489.4(INF2):c.644C>T (p.Thr215Ile) GRCh37: Chr14:105169768 GRCh38: Chr14:104703431	INF2	T215I	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 215918832.	NM_022489.4(INF2):c.1325C>T (p.Pro442Leu) GRCh37: Chr14:105173929 GRCh38: Chr14:104707592	INF2	P442L	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 215911533.	NM_022489.4(INF2):c.308G>C (p.Ser103Thr) GRCh37: Chr14:105168010 GRCh38: Chr14:104701673	INF2	S103T	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 215689834.	NM_022489.4(INF2):c.93G>A (p.Glu31=) GRCh37: Chr14:105167795 GRCh38: Chr14:104701458	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 215573335.	NM_022489.4(INF2):c.99G>C (p.Ala33=) GRCh37: Chr14:105167801 GRCh38: Chr14:104701464	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 214762036.	NM_022489.4(INF2):c.1888-9G>A GRCh37: Chr14:105174999 GRCh38: Chr14:104708662	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 214605137.	NM_022489.4(INF2):c.2052+16C>T GRCh37: Chr14:105175736 GRCh38: Chr14:104709399	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 214275738.	NM_022489.4(INF2):c.2906A>T (p.Glu969Val) GRCh37: Chr14:105179809 GRCh38: Chr14:104713472	INF2	E969V	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 214274439.	NM_022489.4(INF2):c.2764C>T (p.Arg922Cys) GRCh37: Chr14:105179318 GRCh38: Chr14:104712981	INF2	R922C	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Dec 13, 2022)	criteria provided, conflicting interpretations
Select item 214184340.	NM_022489.4(INF2):c.2776-6G>A GRCh37: Chr14:105179538 GRCh38: Chr14:104713201	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 213732041.	NM_022489.4(INF2):c.1900G>A (p.Asp634Asn) GRCh37: Chr14:105175020 GRCh38: Chr14:104708683	INF2	D634N	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, not provided	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213345042.	NM_022489.4(INF2):c.3269A>C (p.Asp1090Ala) GRCh37: Chr14:105180768 GRCh38: Chr14:104714431	INF2	D1090A	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 212987543.	NM_022489.4(INF2):c.2530C>T (p.Leu844=) GRCh37: Chr14:105178810 GRCh38: Chr14:104712473	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212888544.	NM_022489.4(INF2):c.111G>A (p.Leu37=) GRCh37: Chr14:105167813 GRCh38: Chr14:104701476	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 212638245.	NM_022489.4(INF2):c.2855C>T (p.Pro952Leu) GRCh37: Chr14:105179623 GRCh38: Chr14:104713286	INF2	P952L	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212127046.	NM_022489.4(INF2):c.304G>C (p.Val102Leu) GRCh37: Chr14:105168006 GRCh38: Chr14:104701669	INF2	V102L	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 212016247.	NM_022489.4(INF2):c.1557T>C (p.Pro519=) GRCh37: Chr14:105174161 GRCh38: Chr14:104707824	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211679248.	NM_022489.4(INF2):c.3271C>T (p.Pro1091Ser) GRCh37: Chr14:105180770 GRCh38: Chr14:104714433	INF2	P1091S	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211653849.	NM_022489.4(INF2):c.985+5G>C GRCh37: Chr14:105173393 GRCh38: Chr14:104707056	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211603850.	NM_022489.4(INF2):c.3591G>C (p.Ala1197=) GRCh37: Chr14:105181090 GRCh38: Chr14:104714753	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211289051.	NM_022489.4(INF2):c.1794_1801dup (p.Ser601fs) GRCh37: Chr14:105174829-105174830 GRCh38: Chr14:104708492-104708493	INF2	S601fs	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 210924752.	NM_022489.4(INF2):c.83C>T (p.Ala28Val) GRCh37: Chr14:105167785 GRCh38: Chr14:104701448	INF2	A28V	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 210074853.	NM_022489.4(INF2):c.3145C>A (p.Leu1049Ile) GRCh37: Chr14:105180644 GRCh38: Chr14:104714307	INF2	L1049I	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209959054.	NM_022489.4(INF2):c.2226G>A (p.Leu742=) GRCh37: Chr14:105176512 GRCh38: Chr14:104710175	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209823855.	NM_022489.4(INF2):c.3414G>T (p.Leu1138=) GRCh37: Chr14:105180913 GRCh38: Chr14:104714576	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 209066956.	NM_022489.4(INF2):c.3001A>G (p.Lys1001Glu) GRCh37: Chr14:105179904 GRCh38: Chr14:104713567	INF2	K1001E	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 208286857.	NM_022489.4(INF2):c.3156C>T (p.Ala1052=) GRCh37: Chr14:105180655 GRCh38: Chr14:104714318	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 208010058.	NM_022489.4(INF2):c.701+18C>T GRCh37: Chr14:105170304 GRCh38: Chr14:104703967	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 207962059.	NM_022489.4(INF2):c.985+16A>G GRCh37: Chr14:105173404 GRCh38: Chr14:104707067	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 207403260.	NM_022489.4(INF2):c.1332C>G (p.Pro444=) GRCh37: Chr14:105173936 GRCh38: Chr14:104707599	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207183161.	NM_022489.4(INF2):c.595A>C (p.Ser199Arg) GRCh37: Chr14:105169719 GRCh38: Chr14:104703382	INF2	S199R	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 207075862.	NM_022489.4(INF2):c.2355G>A (p.Leu785=) GRCh37: Chr14:105177460 GRCh38: Chr14:104711123	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 207070163.	NM_022489.4(INF2):c.621C>T (p.Gly207=) GRCh37: Chr14:105169745 GRCh38: Chr14:104703408	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 206636464.	NM_022489.4(INF2):c.1253C>T (p.Ala418Val) GRCh37: Chr14:105173857 GRCh38: Chr14:104707520	INF2	A418V	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 206594765.	NM_022489.4(INF2):c.3488C>A (p.Pro1163His) GRCh37: Chr14:105180987 GRCh38: Chr14:104714650	INF2	P1163H	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 206573866.	NM_022489.4(INF2):c.2490-13C>G GRCh37: Chr14:105178757 GRCh38: Chr14:104712420	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 206226167.	NM_022489.4(INF2):c.1735+16C>T GRCh37: Chr14:105174355 GRCh38: Chr14:104708018	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 206159068.	NM_022489.4(INF2):c.2888G>A (p.Gly963Glu) GRCh37: Chr14:105179791 GRCh38: Chr14:104713454	INF2	G963E	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 206024069.	NM_022489.4(INF2):c.391+8G>A GRCh37: Chr14:105168101 GRCh38: Chr14:104701764	INF2		Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 205927170.	NM_022489.4(INF2):c.2053-17C>T GRCh37: Chr14:105175940 GRCh38: Chr14:104709603	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 205815771.	NM_022489.4(INF2):c.465C>T (p.Pro155=) GRCh37: Chr14:105169515 GRCh38: Chr14:104703178	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 205736572.	NM_022489.4(INF2):c.2788C>T (p.Arg930Trp) GRCh37: Chr14:105179556 GRCh38: Chr14:104713219	INF2	R930W	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 205471273.	NM_022489.4(INF2):c.2776-15C>T GRCh37: Chr14:105179529 GRCh38: Chr14:104713192	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 205413574.	NM_022489.4(INF2):c.1942T>G (p.Phe648Val) GRCh37: Chr14:105175062 GRCh38: Chr14:104708725	INF2	F648V	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 205246675.	NM_022489.4(INF2):c.1542T>G (p.Pro514=) GRCh37: Chr14:105174146 GRCh38: Chr14:104707809	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 205195876.	NM_022489.4(INF2):c.1268C>A (p.Pro423Gln) GRCh37: Chr14:105173872 GRCh38: Chr14:104707535	INF2	P423Q	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 205132577.	NM_022489.4(INF2):c.1347G>A (p.Val449=) GRCh37: Chr14:105173951 GRCh38: Chr14:104707614	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 205010678.	NM_022489.4(INF2):c.69G>A (p.Ser23=) GRCh37: Chr14:105167771 GRCh38: Chr14:104701434	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 204754779.	NM_022489.4(INF2):c.3306G>A (p.Pro1102=) GRCh37: Chr14:105180805 GRCh38: Chr14:104714468	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 204578080.	NM_022489.4(INF2):c.1735+5G>A GRCh37: Chr14:105174344 GRCh38: Chr14:104708007	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 204533581.	NM_022489.4(INF2):c.3091G>A (p.Ala1031Thr) GRCh37: Chr14:105180590 GRCh38: Chr14:104714253	INF2	A1031T	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 204462582.	NM_022489.4(INF2):c.2922T>C (p.Asp974=) GRCh37: Chr14:105179825 GRCh38: Chr14:104713488	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 204379883.	NM_022489.4(INF2):c.2197A>T (p.Met733Leu) GRCh37: Chr14:105176483 GRCh38: Chr14:104710146	INF2	M733L	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 204230884.	NM_022489.4(INF2):c.667+20C>A GRCh37: Chr14:105169811 GRCh38: Chr14:104703474	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 204133585.	NM_022489.4(INF2):c.3241G>T (p.Asp1081Tyr) GRCh37: Chr14:105180740 GRCh38: Chr14:104714403	INF2	D1081Y	Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 203183386.	NM_022489.4(INF2):c.369del (p.Tyr124fs) GRCh37: Chr14:105168071 GRCh38: Chr14:104701734	INF2	Y124fs	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 202825887.	NM_022489.4(INF2):c.1860C>T (p.Ala620=) GRCh37: Chr14:105174897 GRCh38: Chr14:104708560	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 202492888.	NM_022489.4(INF2):c.1953C>T (p.Ser651=) GRCh37: Chr14:105175621 GRCh38: Chr14:104709284	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 202413589.	NM_022489.4(INF2):c.2978G>A (p.Arg993His) GRCh37: Chr14:105179881 GRCh38: Chr14:104713544	INF2	R993H	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 201717390.	NM_022489.4(INF2):c.667+15T>G GRCh37: Chr14:105169806 GRCh38: Chr14:104703469	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201714091.	NM_022489.4(INF2):c.2391C>T (p.Arg797=) GRCh37: Chr14:105177496 GRCh38: Chr14:104711159	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201589592.	NM_022489.4(INF2):c.1133C>A (p.Thr378Asn) GRCh37: Chr14:105173737 GRCh38: Chr14:104707400	INF2	T378N	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 201566393.	NM_022489.4(INF2):c.1286del (p.Leu429fs) GRCh37: Chr14:105173890 GRCh38: Chr14:104707553	INF2	L429fs	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Jul 10, 2022)	criteria provided, single submitter
Select item 200420394.	NM_022489.4(INF2):c.1912A>T (p.Ser638Cys) GRCh37: Chr14:105175032 GRCh38: Chr14:104708695	INF2	S638C	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 199916495.	NM_022489.4(INF2):c.218G>A (p.Gly73Asp) GRCh37: Chr14:105167920 GRCh38: Chr14:104701583	INF2	G73D	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 199856096.	NM_022489.4(INF2):c.701+7C>A GRCh37: Chr14:105170293 GRCh38: Chr14:104703956	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 199810997.	NM_022489.4(INF2):c.1859C>T (p.Ala620Val) GRCh37: Chr14:105174896 GRCh38: Chr14:104708559	INF2	A620V	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 199296298.	NM_022489.4(INF2):c.200A>G (p.Gln67Arg) GRCh37: Chr14:105167902 GRCh38: Chr14:104701565	INF2	Q67R	Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 198830399.	NM_022489.4(INF2):c.1950-20C>G GRCh37: Chr14:105175598 GRCh38: Chr14:104709261	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 1987729100.	NM_022489.4(INF2):c.2349C>T (p.Ser783=) GRCh37: Chr14:105177454 GRCh38: Chr14:104711117	INF2		Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E	Likely benign (Mar 23, 2022)	criteria provided, single submitter

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