ClinVar for MedGen (Select 413754) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25847431.	NM_001605.3(AARS1):c.479+1G>T GRCh37: Chr16:70310388 GRCh38: Chr16:70276485	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Likely pathogenic	criteria provided, single submitter
Select item 25040642.	NM_001605.3(AARS1):c.1815C>G (p.His605Gln) GRCh37: Chr16:70293060 GRCh38: Chr16:70259157	AARS1	H605Q	Charcot-Marie-Tooth disease axonal type 2N	Likely pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 17094753.	NM_001605.3(AARS1):c.1087G>C (p.Glu363Gln) GRCh37: Chr16:70301697 GRCh38: Chr16:70267794	AARS1	E363Q	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 16854824.	NM_001605.3(AARS1):c.977G>C (p.Arg326Pro) GRCh37: Chr16:70302268 GRCh38: Chr16:70268365	AARS1	R326P	Charcot-Marie-Tooth disease axonal type 2N	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16854815.	NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp) GRCh37: Chr16:70289725 GRCh38: Chr16:70255822	AARS1	S731W	Charcot-Marie-Tooth disease axonal type 2N	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16823206.	NM_001605.3(AARS1):c.312G>A (p.Trp104Ter) GRCh37: Chr16:70310890 GRCh38: Chr16:70276987	AARS1	W104*	Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 16822547.	NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu) GRCh37: Chr16:70301691 GRCh38: Chr16:70267788	AARS1	K365E	Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 16822488.	NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr) GRCh37: Chr16:70301604 GRCh38: Chr16:70267701	AARS1	D394Y	Charcot-Marie-Tooth disease type 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 16821919.	NM_001605.3(AARS1):c.1878C>T (p.Gly626=) GRCh37: Chr16:70292997 GRCh38: Chr16:70259094	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 133387310.	NM_001605.3(AARS1):c.1514C>T (p.Thr505Met) GRCh37: Chr16:70296406 GRCh38: Chr16:70262503	AARS1	T505M	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132379711.	NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys) GRCh37: Chr16:70302236 GRCh38: Chr16:70268333	AARS1	E337K	Charcot-Marie-Tooth disease type 2	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 106177712.	NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) GRCh37: Chr16:70292906 GRCh38: Chr16:70259003	AARS1	N657D	Charcot-Marie-Tooth disease type 2, Trichothiodystrophy 8, nonphotosensitive, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, Leukoencephalopathy, hereditary diffuse, with spheroids 2	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103275513.	NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr) GRCh37: Chr16:70298909 GRCh38: Chr16:70265006	AARS1	D482Y	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jun 28, 2018)	criteria provided, single submitter
Select item 95583514.	NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys) GRCh37: Chr16:70301613 GRCh38: Chr16:70267710	AARS1	R391C	Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 94745315.	NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg) GRCh37: Chr16:70289632 GRCh38: Chr16:70255729	AARS1	K762R	Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88855816.	NM_001605.3(AARS1):c.828C>G (p.Ala276=) GRCh37: Chr16:70303655 GRCh38: Chr16:70269752	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88855717.	NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr) GRCh37: Chr16:70303537 GRCh38: Chr16:70269634	AARS1	D316Y	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 88850018.	NM_001605.3(AARS1):c.2019G>C (p.Leu673=) GRCh37: Chr16:70292094 GRCh38: Chr16:70258191	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88849919.	NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys) GRCh37: Chr16:70292000 GRCh38: Chr16:70258097	AARS1	E705K	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 88730720.	NM_001605.3(AARS1):c.1059C>T (p.Val353=) GRCh37: Chr16:70302186 GRCh38: Chr16:70268283	AARS1		Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 88730621.	NM_001605.3(AARS1):c.1110G>C (p.Met370Ile) GRCh37: Chr16:70301674 GRCh38: Chr16:70267771	AARS1	M370I	Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88631122.	NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg) GRCh37: Chr16:70298978 GRCh38: Chr16:70265075	AARS1	G459R	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88533823.	NM_001605.3(AARS1):c.*32T>C GRCh37: Chr16:70286592 GRCh38: Chr16:70252689	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88533724.	NM_001605.3(AARS1):c.*131G>A GRCh37: Chr16:70286493 GRCh38: Chr16:70252590	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88533625.	NM_001605.3(AARS1):c.*141A>G GRCh37: Chr16:70286483 GRCh38: Chr16:70252580	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88434626.	NM_001605.3(AARS1):c.501C>T (p.Leu167=) GRCh37: Chr16:70305854 GRCh38: Chr16:70271951	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88428127.	NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys) GRCh37: Chr16:70296287 GRCh38: Chr16:70262384	AARS1	E545K	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88428028.	NM_001605.3(AARS1):c.1656T>C (p.Asp552=) GRCh37: Chr16:70296264 GRCh38: Chr16:70262361	AARS1		Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81083129.	NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) GRCh37: Chr16:70302202 GRCh38: Chr16:70268299	AARS1	T348M	Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70450230.	NM_001605.3(AARS1):c.2730C>T (p.Ala910=) GRCh37: Chr16:70286801 GRCh38: Chr16:70252898	AARS1		Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Likely benign (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70015631.	NM_001605.3(AARS1):c.2592C>T (p.Ser864=) GRCh37: Chr16:70287632 GRCh38: Chr16:70253729	AARS1		Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69863132.	NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) GRCh37: Chr16:70310438 GRCh38: Chr16:70276535	AARS1	A144T	Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Oct 11, 2023)	criteria provided, conflicting interpretations
Select item 68962533.	NM_001605.3(AARS1):c.618G>T (p.Gln206His) GRCh37: Chr16:70305737 GRCh38: Chr16:70271834	AARS1	Q206H	Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 68141234.	NM_001605.3(AARS1):c.342A>C (p.Ala114=) GRCh37: Chr16:70310526 GRCh38: Chr16:70276623	AARS1		not provided, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 65613635.	NM_015459.5(ATL3):c.1392A>G (p.Ile464Met) GRCh37: Chr11:63398659 GRCh38: Chr11:63631187	ATL3	I446M, I464M	Neuropathy, hereditary sensory, type 1F	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 63751136.	NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) GRCh37: Chr16:70293052 GRCh38: Chr16:70259149	AARS1	T608M	Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 63226337.	NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter) GRCh37: Chr16:70294970 GRCh38: Chr16:70261067	AARS1	Q588*	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Nov 30, 2018)	criteria provided, single submitter
Select item 62388938.	NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) GRCh37: Chr16:70302269 GRCh38: Chr16:70268366	AARS1	R326W	Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, not provided, Peripheral neuropathy	Conflicting interpretations of pathogenicity (Nov 17, 2022)	criteria provided, conflicting interpretations
Select item 57937039.	NM_001605.3(AARS1):c.212A>G (p.Asn71Ser) GRCh37: Chr16:70310990 GRCh38: Chr16:70277087	AARS1	N71S	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54967340.	NM_001605.3(AARS1):c.328T>C (p.Phe110Leu) GRCh37: Chr16:70310874 GRCh38: Chr16:70276971	AARS1	F110L	Charcot-Marie-Tooth disease axonal type 2N	Likely pathogenic (Apr 25, 2018)	no assertion criteria provided
Select item 54328641.	NM_001605.3(AARS1):c.1509G>A (p.Val503=) GRCh37: Chr16:70296411 GRCh38: Chr16:70262508	AARS1		Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51478542.	NM_001605.3(AARS1):c.2401-11A>G GRCh37: Chr16:70287952 GRCh38: Chr16:70254049	AARS1		not specified, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 47674643.	NM_001605.3(AARS1):c.959G>A (p.Arg320His) GRCh37: Chr16:70303524 GRCh38: Chr16:70269621	AARS1	R320H	Charcot-Marie-Tooth disease axonal type 2N, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47674244.	NM_001605.3(AARS1):c.63C>T (p.Asn21=) GRCh37: Chr16:70316604 GRCh38: Chr16:70282701	AARS1		Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Oct 20, 2021)	criteria provided, conflicting interpretations
Select item 44987345.	NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) GRCh37: Chr16:70310943 GRCh38: Chr16:70277040	AARS1	D87N	not provided, Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41875246.	NM_001605.3(AARS1):c.-21-11dup GRCh37: Chr16:70316697-70316698 GRCh38: Chr16:70282794-70282795	AARS1		not specified, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, Trichothiodystrophy 8, nonphotosensitive, Leukoencephalopathy, hereditary diffuse, with spheroids 2	Likely benign (Oct 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 41228847.	NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) GRCh37: Chr16:70302226 GRCh38: Chr16:70268323	AARS1	N340S	not provided, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 39040548.	NM_001605.3(AARS1):c.1671+10C>T GRCh37: Chr16:70296239 GRCh38: Chr16:70262336	AARS1		Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N	Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38236049.	NM_001605.3(AARS1):c.1428G>C (p.Arg476=) GRCh37: Chr16:70298925 GRCh38: Chr16:70265022	AARS1		Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Benign/Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37739950.	NM_001605.3(AARS1):c.2178-14G>A GRCh37: Chr16:70289753 GRCh38: Chr16:70255850	AARS1		Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, not specified	Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32035751.	NM_001605.2(AARS1):c.-108T>C GRCh37: Chr16:70323410 GRCh38: Chr16:70289507	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32035652.	NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) GRCh37: Chr16:70316603 GRCh38: Chr16:70282700	AARS1	E22K	Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32035553.	NM_001605.3(AARS1):c.91A>G (p.Thr31Ala) GRCh37: Chr16:70316576 GRCh38: Chr16:70282673	AARS1	T31A	Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Uncertain significance (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32035454.	NM_001605.3(AARS1):c.333+3A>C GRCh37: Chr16:70310866 GRCh38: Chr16:70276963	AARS1		Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 32035355.	NM_001605.3(AARS1):c.480-8T>G GRCh37: Chr16:70305883 GRCh38: Chr16:70271980	AARS1		not provided, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Nov 1, 2019)	criteria provided, conflicting interpretations
Select item 32035256.	NM_001605.3(AARS1):c.561C>T (p.Cys187=) GRCh37: Chr16:70305794 GRCh38: Chr16:70271891	AARS1		Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided, not specified, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32035157.	NM_001605.3(AARS1):c.671+3A>G GRCh37: Chr16:70305681 GRCh38: Chr16:70271778	AARS1		Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32035058.	NM_001605.3(AARS1):c.741G>A (p.Leu247=) GRCh37: Chr16:70304174 GRCh38: Chr16:70270271	AARS1		Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32034959.	NM_001605.3(AARS1):c.806C>G (p.Ala269Gly) GRCh37: Chr16:70304109 GRCh38: Chr16:70270206	AARS1	A269G	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32034860.	NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) GRCh37: Chr16:70303659 GRCh38: Chr16:70269756	AARS1	G275D	Charcot-Marie-Tooth disease axonal type 2N, not provided, Charcot-Marie-Tooth disease type 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32034761.	NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) GRCh37: Chr16:70303579 GRCh38: Chr16:70269676	AARS1	A302T	not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 32034662.	NM_001605.3(AARS1):c.962+15C>T GRCh37: Chr16:70303506 GRCh38: Chr16:70269603	AARS1		Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Jun 8, 2022)	criteria provided, conflicting interpretations
Select item 32034563.	NM_001605.3(AARS1):c.1120A>G (p.Ile374Val) GRCh37: Chr16:70301664 GRCh38: Chr16:70267761	AARS1	I374V	Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32034464.	NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) GRCh37: Chr16:70299535 GRCh38: Chr16:70265632	AARS1	Y418C	Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 32034365.	NM_001605.3(AARS1):c.1332G>A (p.Glu444=) GRCh37: Chr16:70299456 GRCh38: Chr16:70265553	AARS1		Charcot-Marie-Tooth disease type 2, not specified, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32034266.	NM_001605.3(AARS1):c.1410C>T (p.Ile470=) GRCh37: Chr16:70298943 GRCh38: Chr16:70265040	AARS1		not provided, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases	Benign/Likely benign (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32034167.	NM_001605.3(AARS1):c.1493-7T>C GRCh37: Chr16:70296434 GRCh38: Chr16:70262531	AARS1		Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 32034068.	NM_001605.3(AARS1):c.1587G>A (p.Leu529=) GRCh37: Chr16:70296333 GRCh38: Chr16:70262430	AARS1		Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 11, 2019)	criteria provided, conflicting interpretations
Select item 32033969.	NM_001605.3(AARS1):c.1596C>A (p.Thr532=) GRCh37: Chr16:70296324 GRCh38: Chr16:70262421	AARS1		Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 11, 2019)	criteria provided, conflicting interpretations
Select item 32033870.	NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp) GRCh37: Chr16:70296309 GRCh38: Chr16:70262406	AARS1	E537D	Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases	Uncertain significance (Mar 20, 2020)	criteria provided, multiple submitters, no conflicts
Select item 32033771.	NM_001605.3(AARS1):c.1737C>T (p.Ile579=) GRCh37: Chr16:70294995 GRCh38: Chr16:70261092	AARS1		not specified, not provided, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32033672.	NM_001605.3(AARS1):c.1824G>A (p.Thr608=) GRCh37: Chr16:70293051 GRCh38: Chr16:70259148	AARS1		not specified, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases	Likely benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32033573.	NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) GRCh37: Chr16:70293029 GRCh38: Chr16:70259126	AARS1	R616C	not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32033474.	NM_001605.3(AARS1):c.2109G>C (p.Val703=) GRCh37: Chr16:70292004 GRCh38: Chr16:70258101	AARS1		Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 4, 2022)	criteria provided, conflicting interpretations
Select item 32033375.	NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu) GRCh37: Chr16:70291984 GRCh38: Chr16:70258081	AARS1	P710L	not provided, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32033276.	NM_001605.3(AARS1):c.2217C>T (p.Ile739=) GRCh37: Chr16:70289700 GRCh38: Chr16:70255797	AARS1		Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2N	Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32033177.	NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg) GRCh37: Chr16:70289677 GRCh38: Chr16:70255774	AARS1	K747R	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32033078.	NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr) GRCh37: Chr16:70288546 GRCh38: Chr16:70254643	AARS1	R793T	Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32032979.	NM_001605.3(AARS1):c.2421C>A (p.Ile807=) GRCh37: Chr16:70287921 GRCh38: Chr16:70254018	AARS1		Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 11, 2019)	criteria provided, conflicting interpretations
Select item 32032880.	NM_001605.3(AARS1):c.2580G>A (p.Leu860=) GRCh37: Chr16:70287644 GRCh38: Chr16:70253741	AARS1		Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 32032781.	NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr) GRCh37: Chr16:70287628 GRCh38: Chr16:70253725	AARS1	A866T	Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32032682.	NM_001605.3(AARS1):c.2700G>A (p.Thr900=) GRCh37: Chr16:70287192 GRCh38: Chr16:70253289	AARS1		Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32032583.	NM_001605.3(AARS1):c.2715T>C (p.Val905=) GRCh37: Chr16:70287177 GRCh38: Chr16:70253274	AARS1		Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29, not provided, Charcot-Marie-Tooth disease axonal type 2N	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32032484.	NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser) GRCh37: Chr16:70286799 GRCh38: Chr16:70252896	AARS1	N911S	AARS1-related condition, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 32032385.	NM_001605.3(AARS1):c.*74A>T GRCh37: Chr16:70286550 GRCh38: Chr16:70252647	AARS1		Charcot-Marie-Tooth disease axonal type 2N, not provided	Benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32032286.	NM_001605.3(AARS1):c.*169C>G GRCh37: Chr16:70286455 GRCh38: Chr16:70252552	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32032187.	NM_001605.3(AARS1):c.*213C>T GRCh37: Chr16:70286411 GRCh38: Chr16:70252508	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32032088.	NM_001605.3(AARS1):c.*251A>C GRCh37: Chr16:70286373 GRCh38: Chr16:70252470	AARS1		Charcot-Marie-Tooth disease axonal type 2N, not provided	Benign/Likely benign (Dec 23, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32031989.	NM_001605.3(AARS1):c.*324G>A GRCh37: Chr16:70286300 GRCh38: Chr16:70252397	AARS1		Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28797390.	NM_001605.3(AARS1):c.903C>T (p.His301=) GRCh37: Chr16:70303580 GRCh38: Chr16:70269677	AARS1		not specified, not provided, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28299791.	NM_001605.3(AARS1):c.1044G>C (p.Thr348=) GRCh37: Chr16:70302201 GRCh38: Chr16:70268298	AARS1		Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, not specified, not provided, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease axonal type 2N, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24615892.	NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) GRCh37: Chr16:70298872 GRCh38: Chr16:70264969	AARS1	S494I	Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 24606393.	NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) GRCh37: Chr16:70289731 GRCh38: Chr16:70255828	AARS1	R729Q	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease axonal type 2N, not provided	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 24598394.	NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) GRCh37: Chr16:70305837 GRCh38: Chr16:70271934	AARS1	D173G	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N	Conflicting interpretations of pathogenicity (Jun 15, 2022)	criteria provided, conflicting interpretations
Select item 23903195.	NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys) GRCh37: Chr16:70292978 GRCh38: Chr16:70259075	AARS1	R633C	Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23903096.	NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) GRCh37: Chr16:70298949 GRCh38: Chr16:70265046	AARS1		Charcot-Marie-Tooth disease type 2, not provided, Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Developmental and epileptic encephalopathy, 29	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22093097.	NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) GRCh37: Chr16:70287883 GRCh38: Chr16:70253980	AARS1	K820R	not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, not specified, Charcot-Marie-Tooth disease axonal type 2N	Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22072398.	NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) GRCh37: Chr16:70286631 GRCh38: Chr16:70252728	AARS1	K967M	Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, not provided, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21654999.	NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) GRCh37: Chr16:70304215 GRCh38: Chr16:70270312	AARS1	P234S	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, not provided, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215498100.	NM_001605.3(AARS1):c.2608-6C>A GRCh37: Chr16:70287290 GRCh38: Chr16:70253387	AARS1		Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts

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