ClinVar for MedGen (Select 905419) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24275821.	NC_000019.9:g.(?_40899873)_(40904743_?)dup GRCh37: Chr19:40899873-40904743	PRX		Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 24272822.	NC_000012.11:g.(?_32729292)_(32793467_?)dup GRCh37: Chr12:32729292-32793467	FGD4		Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 24269593.	NC_000011.9:g.(?_9809161)_(9812250_?)del GRCh37: Chr11:9809161-9812250	SBF2		Charcot-Marie-Tooth disease type 4	Pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 24268334.	NC_000005.9:g.(?_148426859)_(148427552_?)del GRCh37: Chr5:148426859-148427552	SH3TC2		Charcot-Marie-Tooth disease type 4	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 24262745.	NC_000011.9:g.(?_95568444)_(95568625_?)dup GRCh37: Chr11:95568444-95568625	MTMR2		Charcot-Marie-Tooth disease type 4	Uncertain significance (Feb 7, 2020)	criteria provided, single submitter
Select item 24259916.	NC_000006.11:g.(?_110106153)_(110146468_?)dup GRCh37: Chr6:110106153-110146468	FIG4		Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 24259907.	NC_000006.11:g.(?_110081433)_(110088118_?)dup GRCh37: Chr6:110081433-110088118	FIG4		Charcot-Marie-Tooth disease type 4	Likely pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 24259898.	NC_000006.11:g.(?_110012639)_(110098283_?)dup GRCh37: Chr6:110012639-110098283	FIG4		Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 24259889.	NC_000006.11:g.(?_109765394)_(110064995_?)dup GRCh37: Chr6:109765394-110064995	AK9, FIG4, MICAL1, ZBTB24		Charcot-Marie-Tooth disease type 4	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 242598710.	NC_000006.11:g.(?_110117948)_(110118074_?)dup GRCh37: Chr6:110117948-110118074	FIG4		Charcot-Marie-Tooth disease type 4	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 242598611.	NC_000006.11:g.(?_109690054)_(110266416_?)dup GRCh37: Chr6:109690054-110266416	SMPD2, PPIL6, MICAL1, CD164, AK9, ZBTB24, FIG4		Charcot-Marie-Tooth disease type 4	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 242598512.	NC_000006.11:g.(?_110106153)_(110113887_?)del GRCh37: Chr6:110106153-110113887	FIG4		Charcot-Marie-Tooth disease type 4	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 242598413.	NC_000006.11:g.(?_107019871)_(110266416_?)del GRCh37: Chr6:107019871-110266416	AFG1L, AK9, ARMC2, BEND3, CD164, CEP57L1, FIG4, FOXO3, MICAL1, MTRES1, NR2E1, OSTM1, PDSS2, PPIL6, QRSL1, RTN4IP1, SCML4, SEC63, SESN1, SMPD2, SNX3, SOBP, ZBTB24		not provided	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 242551214.	NC_000008.10:g.(?_134251121)_(134296554_?)dup GRCh37: Chr8:134251121-134296554	NDRG1		Charcot-Marie-Tooth disease type 4	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 242551115.	NC_000008.10:g.(?_134107268)_(134296554_?)del GRCh37: Chr8:134107268-134296554	CCN4, NDRG1, SLA, TG		Charcot-Marie-Tooth disease type 4	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 242184716.	NM_014845.6(FIG4):c.447-16_447-14del GRCh37: Chr6:110053822-110053824 GRCh38: Chr6:109732619-109732621	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 242139117.	NM_014845.6(FIG4):c.2205T>C (p.Ala735=) GRCh37: Chr6:110112603 GRCh38: Chr6:109791400	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 242130418.	NM_030962.4(SBF2):c.1440A>G (p.Pro480=) GRCh37: Chr11:9990048 GRCh38: Chr11:9968501	SBF2		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 242025119.	NM_014845.6(FIG4):c.741T>C (p.Leu247=) GRCh37: Chr6:110059622 GRCh38: Chr6:109738419	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 242020520.	NM_181882.3(PRX):c.4028T>C (p.Met1343Thr) GRCh37: Chr19:40900231 GRCh38: Chr19:40394324	PRX	M1343T, M1438T	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 242011721.	NM_014845.6(FIG4):c.1584-14T>G GRCh37: Chr6:110087918 GRCh38: Chr6:109766715	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 241969422.	NM_014845.6(FIG4):c.803A>G (p.Tyr268Cys) GRCh37: Chr6:110062674 GRCh38: Chr6:109741471	FIG4	Y268C	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 241874123.	NM_014845.6(FIG4):c.1410T>C (p.Cys470=) GRCh37: Chr6:110085161 GRCh38: Chr6:109763958	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 241867724.	NM_006096.4(NDRG1):c.327-13G>C GRCh37: Chr8:134271486 GRCh38: Chr8:133259243	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 241846525.	NM_016156.6(MTMR2):c.1826A>G (p.Lys609Arg) GRCh37: Chr11:95568560 GRCh38: Chr11:95835396	MTMR2	K537R, K609R	Charcot-Marie-Tooth disease type 4	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 241840026.	NM_014845.6(FIG4):c.756T>G (p.His252Gln) GRCh37: Chr6:110059637 GRCh38: Chr6:109738434	FIG4	H252Q	Charcot-Marie-Tooth disease type 4	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 241835827.	NM_024577.4(SH3TC2):c.3060C>T (p.Leu1020=) GRCh37: Chr5:148392291 GRCh38: Chr5:149012728	SH3TC2		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 241734428.	NM_016156.6(MTMR2):c.88A>G (p.Thr30Ala) GRCh37: Chr11:95621418 GRCh38: Chr11:95888254	MTMR2	T30A	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 241715929.	NM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp) GRCh37: Chr12:32755191 GRCh38: Chr12:32602257	FGD4	E127D, E218D, E311D, E396D, E448D, E63D	Charcot-Marie-Tooth disease type 4	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 241622830.	NM_001370298.3(FGD4):c.1012-19A>G GRCh37: Chr12:32751412 GRCh38: Chr12:32598478	FGD4		Charcot-Marie-Tooth disease type 4	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 241590831.	NM_014845.6(FIG4):c.646+20C>G GRCh37: Chr6:110056521 GRCh38: Chr6:109735318	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 241578732.	NM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr) GRCh37: Chr12:32755217 GRCh38: Chr12:32602283	FGD4	I136T, I227T, I320T, I405T, I457T, I72T	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 241578633.	NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu) GRCh37: Chr6:110086329 GRCh38: Chr6:109765126	FIG4	D516E	Charcot-Marie-Tooth disease type 4	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 241567534.	NM_181882.3(PRX):c.3482G>A (p.Gly1161Glu) GRCh37: Chr19:40900777 GRCh38: Chr19:40394870	PRX	G1161E, G1256E	Charcot-Marie-Tooth disease type 4	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 241521735.	NM_030962.4(SBF2):c.3522C>T (p.Cys1174=) GRCh37: Chr11:9853901 GRCh38: Chr11:9832354	SBF2		Charcot-Marie-Tooth disease type 4	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 241515536.	NM_006096.4(NDRG1):c.52G>A (p.Glu18Lys) GRCh37: Chr8:134296503 GRCh38: Chr8:133284260	NDRG1	E18K	Charcot-Marie-Tooth disease type 4	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 241507837.	NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter) GRCh37: Chr5:148407745 GRCh38: Chr5:149028182	SH3TC2	W517*	Charcot-Marie-Tooth disease type 4	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 241476138.	NM_181882.3(PRX):c.4251A>G (p.Leu1417=) GRCh37: Chr19:40900008 GRCh38: Chr19:40394101	PRX		Charcot-Marie-Tooth disease type 4	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 241465739.	NM_006096.4(NDRG1):c.183C>T (p.Thr61=) GRCh37: Chr8:134276812 GRCh38: Chr8:133264569	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 241453740.	NM_006096.4(NDRG1):c.892-15C>G GRCh37: Chr8:134254332 GRCh38: Chr8:133242089	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 241418941.	NM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu) GRCh37: Chr12:32791698 GRCh38: Chr12:32638764	FGD4	P327L, P423L, P487L, P578L, P671L, P756L, P808L	Charcot-Marie-Tooth disease type 4	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 241375242.	NM_006096.4(NDRG1):c.721C>T (p.Arg241Ter) GRCh37: Chr8:134260992 GRCh38: Chr8:133248749	LOC126860531, NDRG1	R160, R175, R241, R258	Charcot-Marie-Tooth disease type 4	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 241341343.	NM_006096.4(NDRG1):c.567C>T (p.Asp189=) GRCh37: Chr8:134266809 GRCh38: Chr8:133254566	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 227722844.	NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln) GRCh37: Chr5:148406436 GRCh38: Chr5:149026873	SH3TC2	H953Q	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220309145.	NM_014845.6(FIG4):c.1917G>A (p.Val639=) GRCh37: Chr6:110106200 GRCh38: Chr6:109784997	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 220263546.	NM_014845.6(FIG4):c.2071dup (p.Cys691fs) GRCh37: Chr6:110107623-110107624 GRCh38: Chr6:109786420-109786421	FIG4	C691fs	Charcot-Marie-Tooth disease type 4	Pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 220235347.	NM_001370298.3(FGD4):c.900_902del (p.Val301del) GRCh37: Chr12:32735290-32735292 GRCh38: Chr12:32582356-32582358	FGD4	V71del, V164del, V249del, V301del	Charcot-Marie-Tooth disease type 4	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 220227448.	NM_181882.3(PRX):c.4343C>T (p.Pro1448Leu) GRCh37: Chr19:40899916 GRCh38: Chr19:40394009	PRX	P1543L, P1448L	Charcot-Marie-Tooth disease type 4	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 220226449.	NM_030962.4(SBF2):c.595G>A (p.Val199Met) GRCh37: Chr11:10050023 GRCh38: Chr11:10028476	SBF2	V199M	Charcot-Marie-Tooth disease type 4	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 220206850.	NM_001370298.3(FGD4):c.1077C>T (p.Val359=) GRCh37: Chr12:32751496 GRCh38: Chr12:32598562	FGD4		Charcot-Marie-Tooth disease type 4	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 220074951.	NM_016156.6(MTMR2):c.1386+17G>A GRCh37: Chr11:95578100 GRCh38: Chr11:95844936	MTMR2		Charcot-Marie-Tooth disease type 4	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 220068752.	NM_014845.6(FIG4):c.446+18T>C GRCh37: Chr6:110048486 GRCh38: Chr6:109727283	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 219971553.	NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly) GRCh37: Chr5:148406744 GRCh38: Chr5:149027181	SH3TC2	R851G	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 219964154.	NM_030962.4(SBF2):c.402+11_402+21del GRCh37: Chr11:10052574-10052584 GRCh38: Chr11:10031027-10031037	SBF2		Charcot-Marie-Tooth disease type 4	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 219955655.	NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr) GRCh37: Chr5:148386512 GRCh38: Chr5:149006949	SH3TC2	P1203T	Charcot-Marie-Tooth disease type 4	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 219926856.	NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn) GRCh37: Chr12:32735033 GRCh38: Chr12:32582099	FGD4	D163N, D215N, D78N	Charcot-Marie-Tooth disease type 4	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 219924857.	NM_014845.6(FIG4):c.1137+12T>G GRCh37: Chr6:110064987 GRCh38: Chr6:109743784	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 219872558.	NM_014845.6(FIG4):c.1388+7A>G GRCh37: Chr6:110083417 GRCh38: Chr6:109762214	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 219857159.	NM_016156.6(MTMR2):c.871G>A (p.Val291Met) GRCh37: Chr11:95582960 GRCh38: Chr11:95849796	MTMR2	V219M, V291M	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 219836560.	NM_014845.6(FIG4):c.299G>T (p.Arg100Met) GRCh37: Chr6:110048321 GRCh38: Chr6:109727118	FIG4	R100M	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 219785661.	NM_030962.4(SBF2):c.403-4G>C GRCh37: Chr11:10051426 GRCh38: Chr11:10029879	SBF2		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 219771062.	NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys) GRCh37: Chr5:148406719 GRCh38: Chr5:149027156	SH3TC2	Y859C	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 219752563.	NM_024577.4(SH3TC2):c.1406C>T (p.Pro469Leu) GRCh37: Chr5:148407889 GRCh38: Chr5:149028326	SH3TC2	P469L	Charcot-Marie-Tooth disease type 4	Benign (Oct 16, 2022)	criteria provided, single submitter
Select item 219748664.	NM_030962.4(SBF2):c.820A>G (p.Ile274Val) GRCh37: Chr11:10022502 GRCh38: Chr11:10000955	SBF2	I274V	Charcot-Marie-Tooth disease type 4	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 219740965.	NM_030962.4(SBF2):c.5452-16T>C GRCh37: Chr11:9802079 GRCh38: Chr11:9780532	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 219725666.	NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys) GRCh37: Chr5:148388474 GRCh38: Chr5:149008911	SH3TC2	E1140K	not provided, Charcot-Marie-Tooth disease type 4	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219694767.	NM_016156.6(MTMR2):c.45G>A (p.Ala15=) GRCh37: Chr11:95657074 GRCh38: Chr11:95923910	MTMR2		Charcot-Marie-Tooth disease type 4	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 219653968.	NM_024577.4(SH3TC2):c.3720A>T (p.Ala1240=) GRCh37: Chr5:148384421 GRCh38: Chr5:149004858	SH3TC2		Charcot-Marie-Tooth disease type 4	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 219610969.	NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr) GRCh37: Chr5:148407497 GRCh38: Chr5:149027934	SH3TC2	A600T	Charcot-Marie-Tooth disease type 4	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 219603070.	NM_024577.4(SH3TC2):c.3297C>T (p.Arg1099=) GRCh37: Chr5:148389863 GRCh38: Chr5:149010300	SH3TC2		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 219586871.	NM_030962.4(SBF2):c.280-17A>G GRCh37: Chr11:10052734 GRCh38: Chr11:10031187	SBF2		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 219578972.	NM_181882.3(PRX):c.3738G>A (p.Lys1246=) GRCh37: Chr19:40900521 GRCh38: Chr19:40394614	PRX		Charcot-Marie-Tooth disease type 4	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 219546573.	NM_014845.6(FIG4):c.2376+9dup GRCh37: Chr6:110112778-110112779 GRCh38: Chr6:109791575-109791576	FIG4		Charcot-Marie-Tooth disease type 4	Benign (Feb 8, 2022)	criteria provided, single submitter
Select item 219526074.	NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu) GRCh37: Chr5:148386452 GRCh38: Chr5:149006889	SH3TC2	Q1223E	Charcot-Marie-Tooth disease type 4	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 219510175.	NM_016156.6(MTMR2):c.358-8T>C GRCh37: Chr11:95595274 GRCh38: Chr11:95862110	MTMR2		Charcot-Marie-Tooth disease type 4	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 219508076.	NM_030962.4(SBF2):c.975+10A>G GRCh37: Chr11:10019803 GRCh38: Chr11:9998256	SBF2		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 219413077.	NM_016156.6(MTMR2):c.263-14T>C GRCh37: Chr11:95595544 GRCh38: Chr11:95862380	MTMR2		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 219398578.	NM_014845.6(FIG4):c.66+11C>A GRCh37: Chr6:110012715 GRCh38: Chr6:109691512	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 219367379.	NM_014845.6(FIG4):c.1751-17T>C GRCh37: Chr6:110098108 GRCh38: Chr6:109776905	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 219366180.	NM_006096.4(NDRG1):c.698+12T>C GRCh37: Chr8:134262671 GRCh38: Chr8:133250428	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 219364381.	NM_006096.4(NDRG1):c.601A>G (p.Met201Val) GRCh37: Chr8:134262780 GRCh38: Chr8:133250537	NDRG1	M135V, M120V, M201V, M218V	Charcot-Marie-Tooth disease type 4	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 219337182.	NM_001370298.3(FGD4):c.1788C>T (p.Ser596=) GRCh37: Chr12:32772670 GRCh38: Chr12:32619736	FGD4		Charcot-Marie-Tooth disease type 4	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219285283.	NM_024577.4(SH3TC2):c.3093G>A (p.Leu1031=) GRCh37: Chr5:148392258 GRCh38: Chr5:149012695	SH3TC2		Charcot-Marie-Tooth disease type 4	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 219179984.	NM_014845.6(FIG4):c.892G>C (p.Glu298Gln) GRCh37: Chr6:110064328 GRCh38: Chr6:109743125	FIG4	E298Q	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 219106985.	NM_030962.4(SBF2):c.626A>C (p.Gln209Pro) GRCh37: Chr11:10024230 GRCh38: Chr11:10002683	SBF2	Q209P	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 31, 2021)	criteria provided, single submitter
Select item 219046386.	NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter) GRCh37: Chr11:95591781 GRCh38: Chr11:95858617	MTMR2	R162, R90	Charcot-Marie-Tooth disease type 4	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 218993187.	NM_014845.6(FIG4):c.590G>A (p.Arg197His) GRCh37: Chr6:110056445 GRCh38: Chr6:109735242	FIG4	R197H	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 218924888.	NM_016156.6(MTMR2):c.1770+3A>T GRCh37: Chr11:95569309 GRCh38: Chr11:95836145	MTMR2		Charcot-Marie-Tooth disease type 4	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 218922189.	NM_016156.6(MTMR2):c.1756C>T (p.Arg586Trp) GRCh37: Chr11:95569326 GRCh38: Chr11:95836162	MTMR2	R514W, R586W	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 218900590.	NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly) GRCh37: Chr5:148408105 GRCh38: Chr5:149028542	SH3TC2	E397G	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 218898891.	NM_006096.4(NDRG1):c.1023_1052dup (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGly) GRCh37: Chr8:134251253-134251254 GRCh38: Chr8:133239010-133239011	NDRG1		Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 218882992.	NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro) GRCh37: Chr5:148407955 GRCh38: Chr5:149028392	SH3TC2	L447P	Charcot-Marie-Tooth disease type 4	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 218870793.	NM_030962.4(SBF2):c.4257+20T>C GRCh37: Chr11:9830428 GRCh38: Chr11:9808881	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 218849794.	NM_016156.6(MTMR2):c.131T>C (p.Val44Ala) GRCh37: Chr11:95621375 GRCh38: Chr11:95888211	MTMR2	V44A	Charcot-Marie-Tooth disease type 4	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 218785295.	NM_001370298.3(FGD4):c.831A>G (p.Ala277=) GRCh37: Chr12:32735221 GRCh38: Chr12:32582287	FGD4		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 218770096.	NM_024577.4(SH3TC2):c.3204+16A>T GRCh37: Chr5:148392131 GRCh38: Chr5:149012568	SH3TC2		Charcot-Marie-Tooth disease type 4	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 218755597.	NM_016156.6(MTMR2):c.263-20_263-19del GRCh37: Chr11:95595549-95595550 GRCh38: Chr11:95862385-95862386	MTMR2		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 218729098.	NM_024577.4(SH3TC2):c.1305C>A (p.Thr435=) GRCh37: Chr5:148407990 GRCh38: Chr5:149028427	SH3TC2		Charcot-Marie-Tooth disease type 4	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 218701199.	NM_014845.6(FIG4):c.1949-16G>T GRCh37: Chr6:110107489 GRCh38: Chr6:109786286	FIG4		Charcot-Marie-Tooth disease type 4	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 2186949100.	NM_181882.3(PRX):c.4101C>T (p.Ala1367=) GRCh37: Chr19:40900158 GRCh38: Chr19:40394251	PRX		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 3, 2022)	criteria provided, single submitter

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