ClinVar for MedGen (Select 124378) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24282551.	NM_030973.4(MED25):c.650C>T (p.Pro217Leu) GRCh37: Chr19:50333167 GRCh38: Chr19:49829910	MED25	P217L	Charcot-Marie-Tooth disease type 2	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 24281072.	NM_170707.4(LMNA):c.711_716del (p.Glu238_Ser239del) GRCh37: Chr1:156104667-156104672 GRCh38: Chr1:156134876-156134881	LMNA		Charcot-Marie-Tooth disease type 2	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 24280093.	NM_170707.4(LMNA):c.294_295delinsAA (p.Arg99Ser) GRCh37: Chr1:156085003-156085004 GRCh38: Chr1:156115212-156115213	LMNA	R99S	Charcot-Marie-Tooth disease type 2	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 24279974.	NM_001605.3(AARS1):c.215C>A (p.Thr72Asn) GRCh37: Chr16:70310987 GRCh38: Chr16:70277084	AARS1	T72N	Charcot-Marie-Tooth disease type 2	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 24277965.	NM_001365951.3(KIF1B):c.2170G>T (p.Ala724Ser) GRCh37: Chr1:10380155 GRCh38: Chr1:10320097	KIF1B	A678S, A724S	Charcot-Marie-Tooth disease type 2	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 24274676.	NC_000001.10:g.(?_156104184)_(156105922_?)dup GRCh37: Chr1:156104184-156105922	LMNA		Charcot-Marie-Tooth disease type 2	Pathogenic (Dec 5, 2021)	criteria provided, single submitter
Select item 24274667.	NC_000001.10:g.(?_156100388)_(156107554_?)dup GRCh37: Chr1:156100388-156107554	LMNA		Charcot-Marie-Tooth disease type 2	Likely pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 24274658.	NC_000001.10:g.(?_156100388)_(156100584_?)dup GRCh37: Chr1:156100388-156100584	LMNA		Charcot-Marie-Tooth disease type 2	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 24274649.	NC_000001.10:g.(?_156084710)_(156085085_?)dup GRCh37: Chr1:156084710-156085085	LMNA		Charcot-Marie-Tooth disease type 2	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 242746310.	NC_000001.10:g.(?_156106692)_(156107554_?)del GRCh37: Chr1:156106692-156107554	LMNA		Charcot-Marie-Tooth disease type 2	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 242746211.	NC_000001.10:g.(?_156105672)_(156108897_?)del GRCh37: Chr1:156105672-156108897	LMNA		Charcot-Marie-Tooth disease type 2	Pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 242746112.	NC_000001.10:g.(?_156100388)_(156108568_?)del GRCh37: Chr1:156100388-156108568	LMNA		Charcot-Marie-Tooth disease type 2	Pathogenic (Nov 6, 2021)	criteria provided, single submitter
Select item 242705713.	NC_000011.9:g.(?_62457839)_(62462203_?)del GRCh37: Chr11:62457839-62462203	BSCL2		Charcot-Marie-Tooth disease type 2	Pathogenic (Mar 19, 2022)	criteria provided, single submitter
Select item 242606214.	NC_000001.10:g.(?_10428505)_(10428616_?)dup GRCh37: Chr1:10428505-10428616	KIF1B		Charcot-Marie-Tooth disease type 2	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 242606115.	NC_000001.10:g.(?_9304994)_(12569078_?)dup GRCh37: Chr1:9304994-12569078	VPS13D, AGTRAP, ANGPTL7, C1orf127, C1orf167, CASZ1, CENPS, CENPS-CORT, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, H6PD, KIAA2013, KIF1B, LZIC, MAD2L2, MASP2, MFN2, MIIP, MTHFR, MTOR, NMNAT1, NPPA, NPPB, PEX14, PGD, PIK3CD, PLOD1, RBP7, SLC25A33, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, UBE4B, UBIAD1		Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 242599816.	NC_000001.10:g.(?_12058807)_(12059172_?)del GRCh37: Chr1:12058807-12059172	MFN2		Charcot-Marie-Tooth disease type 2	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 242599717.	NC_000001.10:g.(?_11906066)_(12066770_?)dup GRCh37: Chr1:11906066-12066770	KIAA2013, MFN2, NPPA, NPPB, PLOD1		Charcot-Marie-Tooth disease type 2	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 242599618.	NC_000001.10:g.(?_12049226)_(12065004_?)del GRCh37: Chr1:12049226-12065004	MFN2		Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 242434619.	NC_000007.13:g.(?_30642630)_(30649366_?)del GRCh37: Chr7:30642630-30649366	GARS1		Charcot-Marie-Tooth disease type 2	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 242420720.	NC_000016.9:g.(?_70286624)_(70305895_?)del GRCh37: Chr16:70286624-70305895	AARS1		Charcot-Marie-Tooth disease type 2	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 242420621.	NC_000016.9:g.(?_70310369)_(70311077_?)del GRCh37: Chr16:70310369-70311077	AARS1		Charcot-Marie-Tooth disease type 2	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 242420522.	NC_000016.9:g.(?_70294927)_(70311077_?)del GRCh37: Chr16:70294927-70311077	AARS1		Charcot-Marie-Tooth disease type 2	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 242241023.	NM_002047.4(GARS1):c.101G>T (p.Arg34Leu) GRCh37: Chr7:30634638 GRCh38: Chr7:30595022	GARS1	R34L	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 242191924.	NM_001365951.3(KIF1B):c.3655T>A (p.Phe1219Ile) GRCh37: Chr1:10403312 GRCh38: Chr1:10343254	KIF1B	F1173I, F1219I	Charcot-Marie-Tooth disease type 2	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 242188725.	NM_030973.4(MED25):c.1391del (p.Leu464fs) GRCh37: Chr19:50335579 GRCh38: Chr19:49832322	MED25	L464fs	Charcot-Marie-Tooth disease type 2	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 242174926.	NM_014874.4(MFN2):c.1036G>T (p.Glu346Ter) GRCh37: Chr1:12061891 GRCh38: Chr1:12001834	MFN2	E346*	Charcot-Marie-Tooth disease type 2	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 242096227.	NM_030973.4(MED25):c.1767_1768delinsAT (p.Pro590Ser) GRCh37: Chr19:50339004-50339005 GRCh38: Chr19:49835747-49835748	MED25	P590S	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 242046728.	NM_002047.4(GARS1):c.222+17C>A GRCh37: Chr7:30634776 GRCh38: Chr7:30595160	GARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 242032529.	NM_014874.4(MFN2):c.1332G>A (p.Leu444=) GRCh37: Chr1:12064610 GRCh38: Chr1:12004553	MFN2		Charcot-Marie-Tooth disease type 2	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 241985130.	NM_001605.3(AARS1):c.1728T>G (p.Ile576Met) GRCh37: Chr16:70295004 GRCh38: Chr16:70261101	AARS1	I576M	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jan 29, 2022)	criteria provided, single submitter
Select item 241965031.	NM_001605.3(AARS1):c.1360G>A (p.Gly454Ser) GRCh37: Chr16:70298993 GRCh38: Chr16:70265090	AARS1	G454S	Charcot-Marie-Tooth disease type 2	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 241929732.	NM_002047.4(GARS1):c.801T>G (p.Ile267Met) GRCh37: Chr7:30649266 GRCh38: Chr7:30609650	GARS1	I213M, I267M	Charcot-Marie-Tooth disease type 2	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 241885133.	NM_170707.4(LMNA):c.887G>T (p.Arg296Leu) GRCh37: Chr1:156105054 GRCh38: Chr1:156135263	LMNA	A75S, R110L, R184L, R197L, R215L, R296L	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 241868534.	NM_170707.4(LMNA):c.1274A>G (p.Glu425Gly) GRCh37: Chr1:156106121 GRCh38: Chr1:156136330	LMNA	E217G, E239G, E313G, E326G, E344G, E425G	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 241779435.	NM_002047.4(GARS1):c.48G>A (p.Leu16=) GRCh37: Chr7:30634585 GRCh38: Chr7:30594969	GARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 241773836.	NM_001605.3(AARS1):c.1072-10C>T GRCh37: Chr16:70301722 GRCh38: Chr16:70267819	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 241685437.	NM_001365951.3(KIF1B):c.3259+20T>C GRCh37: Chr1:10397281 GRCh38: Chr1:10337223	KIF1B		Charcot-Marie-Tooth disease type 2	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 241675538.	NM_001605.3(AARS1):c.2010T>C (p.Asp670=) GRCh37: Chr16:70292103 GRCh38: Chr16:70258200	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 241646039.	NM_014874.4(MFN2):c.168C>T (p.Phe56=) GRCh37: Chr1:12049393 GRCh38: Chr1:11989336	MFN2		Charcot-Marie-Tooth disease type 2	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 241623140.	NM_014874.4(MFN2):c.1909T>G (p.Ser637Ala) GRCh37: Chr1:12067146 GRCh38: Chr1:12007089	MFN2	S637A	Charcot-Marie-Tooth disease type 2	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 241587241.	NM_001365951.3(KIF1B):c.2115+10C>G GRCh37: Chr1:10357314 GRCh38: Chr1:10297256	KIF1B		Charcot-Marie-Tooth disease type 2	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 241552742.	NM_014874.4(MFN2):c.1496-18C>T GRCh37: Chr1:12065750 GRCh38: Chr1:12005693	MFN2		Charcot-Marie-Tooth disease type 2	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 241549043.	NM_001605.3(AARS1):c.2476A>C (p.Met826Leu) GRCh37: Chr16:70287866 GRCh38: Chr16:70253963	AARS1	M826L	Charcot-Marie-Tooth disease type 2	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 241519544.	NM_170707.4(LMNA):c.1257C>T (p.Arg419=) GRCh37: Chr1:156106104 GRCh38: Chr1:156136313	LMNA		Charcot-Marie-Tooth disease type 2	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 241446445.	NM_170707.4(LMNA):c.1666G>A (p.Glu556Lys) GRCh37: Chr1:156107502 GRCh38: Chr1:156137711	LMNA	E348K, E370K, E444K, E457K, E475K, E556K	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 241438346.	NM_001365951.3(KIF1B):c.3036C>A (p.Ala1012=) GRCh37: Chr1:10394689 GRCh38: Chr1:10334631	KIF1B		Charcot-Marie-Tooth disease type 2, Hereditary cancer-predisposing syndrome	Likely benign (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241422147.	NM_030973.4(MED25):c.1048G>A (p.Val350Met) GRCh37: Chr19:50334091 GRCh38: Chr19:49830834	MED25	V350M	Charcot-Marie-Tooth disease type 2	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 241354348.	NM_170707.4(LMNA):c.674G>C (p.Arg225Pro) GRCh37: Chr1:156104630 GRCh38: Chr1:156134839	LMNA	D4H, R113P, R126P, R144P, R225P, R39P	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 241344749.	NM_001605.3(AARS1):c.1041T>C (p.Ala347=) GRCh37: Chr16:70302204 GRCh38: Chr16:70268301	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 241344650.	NM_001605.3(AARS1):c.2664G>A (p.Met888Ile) GRCh37: Chr16:70287228 GRCh38: Chr16:70253325	AARS1	M888I	Charcot-Marie-Tooth disease type 2	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 241340551.	NM_030973.4(MED25):c.1102-4G>T GRCh37: Chr19:50334586 GRCh38: Chr19:49831329	MED25		Charcot-Marie-Tooth disease type 2	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 241335052.	NM_001365951.3(KIF1B):c.1308G>T (p.Met436Ile) GRCh37: Chr1:10342465 GRCh38: Chr1:10282407	KIF1B	M390I, M436I	Charcot-Marie-Tooth disease type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220324453.	NM_014874.4(MFN2):c.970+5T>G GRCh37: Chr1:12061616 GRCh38: Chr1:12001559	MFN2		Charcot-Marie-Tooth disease type 2	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 220286254.	NM_170707.4(LMNA):c.1608+14G>A GRCh37: Chr1:156107037 GRCh38: Chr1:156137246	LMNA		Charcot-Marie-Tooth disease type 2	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 220286155.	NM_170707.4(LMNA):c.1508G>A (p.Gly503Glu) GRCh37: Chr1:156106923 GRCh38: Chr1:156137132	LMNA	G391E, G422E, G295E, G317E, G404E, G503E	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 220285856.	NM_170707.4(LMNA):c.356+2T>G GRCh37: Chr1:156085067 GRCh38: Chr1:156115276	LMNA		Charcot-Marie-Tooth disease type 2	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 220285757.	NM_170707.4(LMNA):c.115A>G (p.Asn39Asp) GRCh37: Chr1:156084824 GRCh38: Chr1:156115033	LMNA	N39D	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 220270558.	NM_014874.4(MFN2):c.1100A>C (p.Gln367Pro) GRCh37: Chr1:12062100 GRCh38: Chr1:12002043	MFN2	Q367P	Charcot-Marie-Tooth disease type 2	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 220270459.	NC_000001.11:g.12001772del GRCh37: Chr1:12061825 GRCh38: Chr1:12001768	MFN2		Charcot-Marie-Tooth disease type 2	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 220248860.	NM_001605.3(AARS1):c.2550C>T (p.Asp850=) GRCh37: Chr16:70287674 GRCh38: Chr16:70253771	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 220234861.	NM_001365951.3(KIF1B):c.183+12C>G GRCh37: Chr1:10316393 GRCh38: Chr1:10256335	KIF1B		Charcot-Marie-Tooth disease type 2	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 220225962.	NM_030973.4(MED25):c.1101+15G>A GRCh37: Chr19:50334159 GRCh38: Chr19:49830902	MED25		Charcot-Marie-Tooth disease type 2	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 220174563.	NM_001605.3(AARS1):c.1492+14C>T GRCh37: Chr16:70298847 GRCh38: Chr16:70264944	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 220171264.	NM_170707.4(LMNA):c.1239C>A (p.Gly413=) GRCh37: Chr1:156106086 GRCh38: Chr1:156136295	LMNA		Charcot-Marie-Tooth disease type 2	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 220160665.	NM_030973.4(MED25):c.1788A>G (p.Val596=) GRCh37: Chr19:50339025 GRCh38: Chr19:49835768	MED25		Charcot-Marie-Tooth disease type 2, not provided	Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220153266.	NM_001605.3(AARS1):c.913A>C (p.Ile305Leu) GRCh37: Chr16:70303570 GRCh38: Chr16:70269667	AARS1	I305L	Charcot-Marie-Tooth disease type 2	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 220022967.	NM_030973.4(MED25):c.112C>T (p.His38Tyr) GRCh37: Chr19:50321710 GRCh38: Chr19:49818453	MED25	H38Y	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 220006468.	NM_001365951.3(KIF1B):c.2619T>A (p.Thr873=) GRCh37: Chr1:10384897 GRCh38: Chr1:10324839	KIF1B		Charcot-Marie-Tooth disease type 2	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 219974769.	NM_001122955.4(BSCL2):c.404+16T>C GRCh37: Chr11:62472757 GRCh38: Chr11:62705285	BSCL2, HNRNPUL2-BSCL2		Charcot-Marie-Tooth disease type 2	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 219972770.	NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys) GRCh37: Chr11:62462159 GRCh38: Chr11:62694687	BSCL2, HNRNPUL2-BSCL2	R107C, R171C	Charcot-Marie-Tooth disease type 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 219961871.	NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=) GRCh37: Chr11:62458323 GRCh38: Chr11:62690851	BSCL2, HNRNPUL2-BSCL2	R252K	Charcot-Marie-Tooth disease type 2	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 219904672.	NM_170707.4(LMNA):c.1016C>T (p.Ala339Val) GRCh37: Chr1:156105771 GRCh38: Chr1:156135980	LMNA	A339V, A227V, A258V	Charcot-Marie-Tooth disease type 2	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 219894673.	NM_002047.4(GARS1):c.569+12C>T GRCh37: Chr7:30640828 GRCh38: Chr7:30601212	GARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 219875574.	NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=) GRCh37: Chr11:62458269 GRCh38: Chr11:62690797	BSCL2, HNRNPUL2-BSCL2	P270L	Charcot-Marie-Tooth disease type 2	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 219861275.	NM_001605.3(AARS1):c.2000A>C (p.Tyr667Ser) GRCh37: Chr16:70292113 GRCh38: Chr16:70258210	AARS1	Y667S	Charcot-Marie-Tooth disease type 2	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 219848176.	NM_001365951.3(KIF1B):c.4512+16del GRCh37: Chr1:10425317 GRCh38: Chr1:10365259	KIF1B		Charcot-Marie-Tooth disease type 2	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 219827777.	NM_001605.3(AARS1):c.1479C>T (p.Ser493=) GRCh37: Chr16:70298874 GRCh38: Chr16:70264971	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 219735378.	NM_001605.3(AARS1):c.145-18G>T GRCh37: Chr16:70311075 GRCh38: Chr16:70277172	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 219734779.	NM_014874.4(MFN2):c.599+9G>A GRCh37: Chr1:12057487 GRCh38: Chr1:11997430	MFN2		Charcot-Marie-Tooth disease type 2	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 219659680.	NM_001605.3(AARS1):c.1072-3C>G GRCh37: Chr16:70301715 GRCh38: Chr16:70267812	AARS1		Charcot-Marie-Tooth disease type 2	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 219657181.	NM_030973.4(MED25):c.1296C>T (p.Tyr432=) GRCh37: Chr19:50335258 GRCh38: Chr19:49832001	MED25		Charcot-Marie-Tooth disease type 2	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 219647582.	NM_014874.4(MFN2):c.1858G>C (p.Val620Leu) GRCh37: Chr1:12066736 GRCh38: Chr1:12006679	MFN2	V620L	Charcot-Marie-Tooth disease type 2	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 219640283.	NM_030973.4(MED25):c.520G>A (p.Gly174Arg) GRCh37: Chr19:50332342 GRCh38: Chr19:49829085	MED25	G174R	Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 219631384.	NM_002047.4(GARS1):c.750A>C (p.Gly250=) GRCh37: Chr7:30649215 GRCh38: Chr7:30609599	GARS1		Charcot-Marie-Tooth disease type 2	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 219599685.	NM_002047.4(GARS1):c.1614-17_1614-16del GRCh37: Chr7:30665830-30665831 GRCh38: Chr7:30626214-30626215	GARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 219536286.	NM_001365951.3(KIF1B):c.1777+11C>G GRCh37: Chr1:10355835 GRCh38: Chr1:10295777	KIF1B		Charcot-Marie-Tooth disease type 2	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 219511487.	NM_001605.3(AARS1):c.63C>G (p.Asn21Lys) GRCh37: Chr16:70316604 GRCh38: Chr16:70282701	AARS1	N21K	Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 219452688.	NM_030973.4(MED25):c.405-8C>A GRCh37: Chr19:50332219 GRCh38: Chr19:49828962	MED25		Charcot-Marie-Tooth disease type 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 219445389.	NM_001365951.3(KIF1B):c.2042+19G>A GRCh37: Chr1:10357154 GRCh38: Chr1:10297096	KIF1B		Charcot-Marie-Tooth disease type 2	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 219424290.	NM_001365951.3(KIF1B):c.5185T>C (p.Tyr1729His) GRCh37: Chr1:10435000 GRCh38: Chr1:10374942	KIF1B	Y1729H, Y1683H	Charcot-Marie-Tooth disease type 2	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 219401191.	NM_030973.4(MED25):c.603G>A (p.Pro201=) GRCh37: Chr19:50333120 GRCh38: Chr19:49829863	MED25		Charcot-Marie-Tooth disease type 2	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 219370992.	NM_002047.4(GARS1):c.2073_2074del (p.Met692fs) GRCh37: Chr7:30672032-30672033 GRCh38: Chr7:30632416-30632417	GARS1	M638fs, M692fs	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 219363993.	NM_001365951.3(KIF1B):c.799-11A>G GRCh37: Chr1:10332288 GRCh38: Chr1:10272230	KIF1B		Charcot-Marie-Tooth disease type 2	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 219362994.	NM_030973.4(MED25):c.1967C>T (p.Pro656Leu) GRCh37: Chr19:50339484 GRCh38: Chr19:49836227	MED25	P656L	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 219357695.	NM_002047.4(GARS1):c.189G>C (p.Val63=) GRCh37: Chr7:30634726 GRCh38: Chr7:30595110	GARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 219352296.	NM_030973.4(MED25):c.1763C>T (p.Pro588Leu) GRCh37: Chr19:50339000 GRCh38: Chr19:49835743	MED25	P588L	Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 219335797.	NM_001122955.4(BSCL2):c.487-19T>C GRCh37: Chr11:62462202 GRCh38: Chr11:62694730	HNRNPUL2-BSCL2, BSCL2		Charcot-Marie-Tooth disease type 2	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 219304798.	NM_001605.3(AARS1):c.1215C>T (p.Thr405=) GRCh37: Chr16:70301569 GRCh38: Chr16:70267666	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 219302899.	NM_030973.4(MED25):c.689-5C>T GRCh37: Chr19:50333340 GRCh38: Chr19:49830083	MED25		Charcot-Marie-Tooth disease type 2	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 2192936100.	NM_001365951.3(KIF1B):c.2924+16G>C GRCh37: Chr1:10386433 GRCh38: Chr1:10326375	KIF1B, LOC126805614		Charcot-Marie-Tooth disease type 2	Likely benign (Jul 29, 2022)	criteria provided, single submitter

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