ClinVar for MedGen (Select 334023) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24247231.	NC_000001.10:g.(?_33246629)_(33248160_?)del GRCh37: Chr1:33246629-33248160	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 24247222.	NC_000001.10:g.(?_33256743)_(33272232_?)del GRCh37: Chr1:33256743-33272232	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 24247213.	NC_000001.10:g.(?_33247985)_(33248160_?)del GRCh37: Chr1:33247985-33248160	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 24209694.	NM_003680.4(YARS1):c.973C>T (p.Arg325Trp) GRCh37: Chr1:33248074 GRCh38: Chr1:32782473	YARS1	R325W	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 24187435.	NM_003680.4(YARS1):c.511-3C>G GRCh37: Chr1:33263447 GRCh38: Chr1:32797846	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 24180486.	NM_003680.4(YARS1):c.462G>A (p.Lys154=) GRCh37: Chr1:33272131 GRCh38: Chr1:32806530	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 22995217.	NM_003680.4(YARS1):c.564G>C (p.Gln188His) GRCh37: Chr1:33263391 GRCh38: Chr1:32797790	YARS1	Q188H	Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21868358.	NM_003680.4(YARS1):c.1141-16C>T GRCh37: Chr1:33245895 GRCh38: Chr1:32780294	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Benign (Apr 3, 2022)	criteria provided, single submitter
Select item 21841369.	NM_003680.4(YARS1):c.1476+20C>T GRCh37: Chr1:33244963 GRCh38: Chr1:32779362	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 218413510.	NM_003680.4(YARS1):c.271G>C (p.Glu91Gln) GRCh37: Chr1:33276301 GRCh38: Chr1:32810700	YARS1	E91Q	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 218172211.	NM_003680.4(YARS1):c.591+17C>T GRCh37: Chr1:33263347 GRCh38: Chr1:32797746	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 218086512.	NM_003680.4(YARS1):c.101G>A (p.Arg34Gln) GRCh37: Chr1:33276615 GRCh38: Chr1:32811014	YARS1	R34Q	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 216678813.	NM_003680.4(YARS1):c.1477-22CT[2] GRCh37: Chr1:33241709-33241710 GRCh38: Chr1:32776108-32776109	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 216481414.	NM_003680.4(YARS1):c.1579A>G (p.Ile527Val) GRCh37: Chr1:33241590 GRCh38: Chr1:32775989	YARS1	I527V	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 216296815.	NM_003680.4(YARS1):c.205-11C>T GRCh37: Chr1:33276378 GRCh38: Chr1:32810777	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 216237516.	NM_003680.4(YARS1):c.836G>A (p.Arg279Gln) GRCh37: Chr1:33252033 GRCh38: Chr1:32786432	LOC126805688, YARS1	R279Q	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 216237317.	NM_003680.4(YARS1):c.1563G>A (p.Ser521=) GRCh37: Chr1:33241606 GRCh38: Chr1:32776005	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 215823718.	NM_003680.4(YARS1):c.907-7T>G GRCh37: Chr1:33248147 GRCh38: Chr1:32782546	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 215629719.	NM_003680.4(YARS1):c.1349G>T (p.Arg450Leu) GRCh37: Chr1:33245110 GRCh38: Chr1:32779509	YARS1	R450L	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 215392320.	NM_003680.4(YARS1):c.1042+20G>A GRCh37: Chr1:33247985 GRCh38: Chr1:32782384	YARS1		Charcot-Marie-Tooth disease dominant intermediate C, not provided	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214970321.	NM_003680.4(YARS1):c.205-17C>T GRCh37: Chr1:33276384 GRCh38: Chr1:32810783	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 214805922.	NM_003680.4(YARS1):c.670A>G (p.Ser224Gly) GRCh37: Chr1:33256777 GRCh38: Chr1:32791176	YARS1	S224G	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 214760723.	NM_003680.4(YARS1):c.715G>A (p.Glu239Lys) GRCh37: Chr1:33252646 GRCh38: Chr1:32787045	LOC126805688, YARS1	E239K	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 214680924.	NM_003680.4(YARS1):c.1043-19G>A GRCh37: Chr1:33246765 GRCh38: Chr1:32781164	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 213918925.	NM_003680.4(YARS1):c.1078C>G (p.Pro360Ala) GRCh37: Chr1:33246711 GRCh38: Chr1:32781110	YARS1	P360A	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 213644026.	NM_003680.4(YARS1):c.591+20T>C GRCh37: Chr1:33263344 GRCh38: Chr1:32797743	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 213412627.	NM_003680.4(YARS1):c.57+1G>T GRCh37: Chr1:33282788 GRCh38: Chr1:32817187	S100PBP, YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 213053328.	NM_003680.4(YARS1):c.808C>G (p.Pro270Ala) GRCh37: Chr1:33252553 GRCh38: Chr1:32786952	YARS1, LOC126805688	P270A	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212948129.	NM_003680.4(YARS1):c.1439A>G (p.Glu480Gly) GRCh37: Chr1:33245020 GRCh38: Chr1:32779419	YARS1	E480G	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 212380330.	NM_003680.4(YARS1):c.248T>C (p.Met83Thr) GRCh37: Chr1:33276324 GRCh38: Chr1:32810723	YARS1	M83T	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 212343731.	NM_003680.4(YARS1):c.416T>C (p.Val139Ala) GRCh37: Chr1:33272177 GRCh38: Chr1:32806576	YARS1	V139A	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 212090332.	NM_003680.4(YARS1):c.294G>A (p.Glu98=) GRCh37: Chr1:33276278 GRCh38: Chr1:32810677	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 210659733.	NM_003680.4(YARS1):c.1328C>A (p.Ala443Asp) GRCh37: Chr1:33245692 GRCh38: Chr1:32780091	YARS1	A443D	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 210136734.	NM_003680.4(YARS1):c.1353G>C (p.Gln451His) GRCh37: Chr1:33245106 GRCh38: Chr1:32779505	YARS1	Q451H	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209911235.	NM_003680.4(YARS1):c.54G>T (p.Leu18=) GRCh37: Chr1:33282792 GRCh38: Chr1:32817191	S100PBP, YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 209595836.	NM_003680.4(YARS1):c.1396C>G (p.His466Asp) GRCh37: Chr1:33245063 GRCh38: Chr1:32779462	YARS1	H466D	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 209583737.	NM_003680.4(YARS1):c.331C>T (p.Pro111Ser) GRCh37: Chr1:33276241 GRCh38: Chr1:32810640	YARS1	P111S	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 209175138.	NM_003680.4(YARS1):c.330G>A (p.Val110=) GRCh37: Chr1:33276242 GRCh38: Chr1:32810641	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 208234339.	NM_003680.4(YARS1):c.737A>G (p.Lys246Arg) GRCh37: Chr1:33252624 GRCh38: Chr1:32787023	LOC126805688, YARS1	K246R	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 207615840.	NM_003680.4(YARS1):c.1435GAG[1] (p.Glu480del) GRCh37: Chr1:33245019-33245021 GRCh38: Chr1:32779418-32779420	YARS1	E480del	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 206332241.	NM_003680.4(YARS1):c.833T>C (p.Leu278Pro) GRCh37: Chr1:33252036 GRCh38: Chr1:32786435	LOC126805688, YARS1	L278P	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 206258142.	NM_003680.4(YARS1):c.718_726del (p.Asp240_Lys242del) GRCh37: Chr1:33252635-33252643 GRCh38: Chr1:32787034-32787042	LOC126805688, YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 203612943.	NM_003680.4(YARS1):c.1385C>G (p.Ala462Gly) GRCh37: Chr1:33245074 GRCh38: Chr1:32779473	YARS1	A462G	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 203450044.	NM_003680.4(YARS1):c.386A>G (p.Tyr129Cys) GRCh37: Chr1:33272207 GRCh38: Chr1:32806606	YARS1	Y129C	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 203313245.	NM_003680.4(YARS1):c.1337A>T (p.Glu446Val) GRCh37: Chr1:33245122 GRCh38: Chr1:32779521	YARS1	E446V	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 203188546.	NM_003680.4(YARS1):c.1195C>T (p.Pro399Ser) GRCh37: Chr1:33245825 GRCh38: Chr1:32780224	YARS1	P399S	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 202070747.	NM_003680.4(YARS1):c.622G>A (p.Val208Ile) GRCh37: Chr1:33256825 GRCh38: Chr1:32791224	YARS1	V208I	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 200832648.	NM_003680.4(YARS1):c.1140+13C>G GRCh37: Chr1:33246636 GRCh38: Chr1:32781035	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200540549.	NM_003680.4(YARS1):c.727A>G (p.Lys243Glu) GRCh37: Chr1:33252634 GRCh38: Chr1:32787033	LOC126805688, YARS1	K243E	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200203550.	NM_003680.4(YARS1):c.511-16G>A GRCh37: Chr1:33263460 GRCh38: Chr1:32797859	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 200106951.	NM_003680.4(YARS1):c.466G>A (p.Val156Met) GRCh37: Chr1:33272127 GRCh38: Chr1:32806526	YARS1	V156M	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 199730052.	NM_003680.4(YARS1):c.1122A>G (p.Lys374=) GRCh37: Chr1:33246667 GRCh38: Chr1:32781066	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199192253.	NM_003680.4(YARS1):c.945C>T (p.Val315=) GRCh37: Chr1:33248102 GRCh38: Chr1:32782501	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 198379154.	NM_003680.4(YARS1):c.381-11T>A GRCh37: Chr1:33272223 GRCh38: Chr1:32806622	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 198257855.	NM_003680.4(YARS1):c.58-4A>G GRCh37: Chr1:33276662 GRCh38: Chr1:32811061	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 198007756.	NM_003680.4(YARS1):c.1400T>G (p.Val467Gly) GRCh37: Chr1:33245059 GRCh38: Chr1:32779458	YARS1	V467G	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 197947457.	NM_003680.4(YARS1):c.1443C>G (p.Leu481=) GRCh37: Chr1:33245016 GRCh38: Chr1:32779415	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 197940558.	NM_003680.4(YARS1):c.839A>G (p.Asp280Gly) GRCh37: Chr1:33252030 GRCh38: Chr1:32786429	LOC126805688, YARS1	D280G	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 197791859.	NM_003680.4(YARS1):c.815A>G (p.Lys272Arg) GRCh37: Chr1:33252546 GRCh38: Chr1:32786945	LOC126805688, YARS1	K272R	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 196939960.	NM_003680.4(YARS1):c.978A>G (p.Glu326=) GRCh37: Chr1:33248069 GRCh38: Chr1:32782468	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 195652461.	NM_003680.4(YARS1):c.205-16C>T GRCh37: Chr1:33276383 GRCh38: Chr1:32810782	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 195450462.	NM_003680.4(YARS1):c.990C>A (p.Thr330=) GRCh37: Chr1:33248057 GRCh38: Chr1:32782456	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 194971963.	NM_003680.4(YARS1):c.1033T>G (p.Ser345Ala) GRCh37: Chr1:33248014 GRCh38: Chr1:32782413	YARS1	S345A	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 194740164.	NM_003680.4(YARS1):c.1165G>A (p.Val389Ile) GRCh37: Chr1:33245855 GRCh38: Chr1:32780254	YARS1	V389I	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 194706565.	NM_003680.4(YARS1):c.204+16A>C GRCh37: Chr1:33276496 GRCh38: Chr1:32810895	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 194299266.	NM_003680.4(YARS1):c.1224G>A (p.Gln408=) GRCh37: Chr1:33245796 GRCh38: Chr1:32780195	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 194188067.	NM_003680.4(YARS1):c.64C>T (p.Leu22=) GRCh37: Chr1:33276652 GRCh38: Chr1:32811051	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 193960868.	NM_003680.4(YARS1):c.205-18C>T GRCh37: Chr1:33276385 GRCh38: Chr1:32810784	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 190461869.	NM_003680.4(YARS1):c.1222C>T (p.Gln408Ter) GRCh37: Chr1:33245798 GRCh38: Chr1:32780197	YARS1	Q408*	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 190441970.	NM_003680.4(YARS1):c.986A>G (p.Asn329Ser) GRCh37: Chr1:33248061 GRCh38: Chr1:32782460	YARS1	N329S	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 190350271.	NM_003680.4(YARS1):c.1471T>C (p.Leu491=) GRCh37: Chr1:33244988 GRCh38: Chr1:32779387	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 180007472.	NM_003680.4(YARS1):c.125C>T (p.Thr42Met) GRCh37: Chr1:33276591 GRCh38: Chr1:32810990	YARS1	T42M	Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170018873.	NM_003680.4(YARS1):c.290A>G (p.Tyr97Cys) GRCh37: Chr1:33276282 GRCh38: Chr1:32810681	YARS1	Y97C	Charcot-Marie-Tooth disease dominant intermediate C, Neurodevelopmental delay	Conflicting interpretations of pathogenicity (Jun 28, 2022)	criteria provided, conflicting interpretations
Select item 169870574.	NM_003680.4(YARS1):c.978A>C (p.Glu326Asp) GRCh37: Chr1:33248069 GRCh38: Chr1:32782468	YARS1	E326D	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 168154375.	NM_003680.4(YARS1):c.42C>T (p.Ile14=) GRCh37: Chr1:33282804 GRCh38: Chr1:32817203	S100PBP, YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 168154276.	NM_003680.4(YARS1):c.44C>A (p.Thr15Asn) GRCh37: Chr1:33282802 GRCh38: Chr1:32817201	S100PBP, YARS1	T15N	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 168154177.	NM_003680.4(YARS1):c.57+1G>A GRCh37: Chr1:33282788 GRCh38: Chr1:32817187	S100PBP, YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 3, 2021)	criteria provided, single submitter
Select item 168154078.	NM_003680.4(YARS1):c.57+4A>T GRCh37: Chr1:33282785 GRCh38: Chr1:32817184	S100PBP, YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (May 16, 2021)	criteria provided, single submitter
Select item 168153979.	NM_003680.4(YARS1):c.57+10G>A GRCh37: Chr1:33282779 GRCh38: Chr1:32817178	S100PBP, YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Feb 2, 2021)	criteria provided, single submitter
Select item 168153880.	NM_003680.4(YARS1):c.58-5A>C GRCh37: Chr1:33276663 GRCh38: Chr1:32811062	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Apr 5, 2021)	criteria provided, single submitter
Select item 168153781.	NM_003680.4(YARS1):c.92T>C (p.Leu31Pro) GRCh37: Chr1:33276624 GRCh38: Chr1:32811023	YARS1	L31P	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 168153682.	NM_003680.4(YARS1):c.126G>A (p.Thr42=) GRCh37: Chr1:33276590 GRCh38: Chr1:32810989	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 168153583.	NM_003680.4(YARS1):c.194_202del (p.Ala65_Cys67del) GRCh37: Chr1:33276514-33276522 GRCh38: Chr1:32810913-32810921	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 168153484.	NM_003680.4(YARS1):c.204+16A>G GRCh37: Chr1:33276496 GRCh38: Chr1:32810895	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 168153385.	NM_003680.4(YARS1):c.240G>A (p.Leu80=) GRCh37: Chr1:33276332 GRCh38: Chr1:32810731	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 168153286.	NM_003680.4(YARS1):c.265C>T (p.Leu89Phe) GRCh37: Chr1:33276307 GRCh38: Chr1:32810706	YARS1	L89F	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 168153187.	NM_003680.4(YARS1):c.326G>A (p.Gly109Asp) GRCh37: Chr1:33276246 GRCh38: Chr1:32810645	YARS1	G109D	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 168153088.	NM_003680.4(YARS1):c.380+13T>C GRCh37: Chr1:33276179 GRCh38: Chr1:32810578	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 168152989.	NM_003680.4(YARS1):c.395A>T (p.Asp132Val) GRCh37: Chr1:33272198 GRCh38: Chr1:32806597	YARS1	D132V	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 168152890.	NM_003680.4(YARS1):c.451G>A (p.Glu151Lys) GRCh37: Chr1:33272142 GRCh38: Chr1:32806541	YARS1	E151K	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Sep 8, 2021)	criteria provided, single submitter
Select item 168152791.	NM_003680.4(YARS1):c.492C>T (p.Leu164=) GRCh37: Chr1:33272101 GRCh38: Chr1:32806500	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 168152692.	NM_003680.4(YARS1):c.501C>G (p.Pro167=) GRCh37: Chr1:33272092 GRCh38: Chr1:32806491	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 168152593.	NM_003680.4(YARS1):c.501C>T (p.Pro167=) GRCh37: Chr1:33272092 GRCh38: Chr1:32806491	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Jul 16, 2021)	criteria provided, single submitter
Select item 168152494.	NM_003680.4(YARS1):c.511-18A>G GRCh37: Chr1:33263462 GRCh38: Chr1:32797861	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 168152395.	NM_003680.4(YARS1):c.587A>G (p.Glu196Gly) GRCh37: Chr1:33263368 GRCh38: Chr1:32797767	YARS1	E196G	Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases	Uncertain significance (Dec 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168152296.	NM_003680.4(YARS1):c.591+3G>C GRCh37: Chr1:33263361 GRCh38: Chr1:32797760	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 168152197.	NM_003680.4(YARS1):c.592-6T>A GRCh37: Chr1:33256861 GRCh38: Chr1:32791260	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 168152098.	NM_003680.4(YARS1):c.620G>A (p.Arg207Gln) GRCh37: Chr1:33256827 GRCh38: Chr1:32791226	YARS1	R207Q	Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C	Conflicting interpretations of pathogenicity (Aug 7, 2022)	criteria provided, conflicting interpretations
Select item 168151999.	NM_003680.4(YARS1):c.621G>C (p.Arg207=) GRCh37: Chr1:33256826 GRCh38: Chr1:32791225	YARS1		Charcot-Marie-Tooth disease dominant intermediate C	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 1681518100.	NM_003680.4(YARS1):c.642G>A (p.Met214Ile) GRCh37: Chr1:33256805 GRCh38: Chr1:32791204	YARS1	M214I	Charcot-Marie-Tooth disease dominant intermediate C	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter

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