ClinVar for MedGen (Select 88601) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24227101.	NC_000017.10:g.(?_40690337)_(40690793_?)del GRCh37: Chr17:40690337-40690793	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 24227092.	NC_000017.10:g.(?_40688291)_(40729741_?)dup GRCh37: Chr17:40688291-40729741	MLX, COASY, HSD17B1, NAGLU, PSMC3IP		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 24227083.	NC_000017.10:g.(?_40689396)_(40690793_?)del GRCh37: Chr17:40689396-40690793	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Pathogenic (Jun 2, 2022)	criteria provided, single submitter
Select item 24197784.	NM_000263.4(NAGLU):c.418T>C (p.Tyr140His) GRCh37: Chr17:40689450 GRCh38: Chr17:42537432	NAGLU	Y140H	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 24196615.	NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg) GRCh37: Chr17:40695297 GRCh38: Chr17:42543279	NAGLU	G425R	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 22019626.	NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val) GRCh37: Chr17:40695463 GRCh38: Chr17:42543445	NAGLU	A480V	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 22015547.	NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu) GRCh37: Chr17:40690728 GRCh38: Chr17:42538710	NAGLU	P240L	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 22002238.	NM_000263.4(NAGLU):c.1021+9C>T GRCh37: Chr17:40693233 GRCh38: Chr17:42541215	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 21995999.	NM_000263.4(NAGLU):c.384-19C>T GRCh37: Chr17:40689397 GRCh38: Chr17:42537379	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 219937610.	NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln) GRCh37: Chr17:40695415 GRCh38: Chr17:42543397	NAGLU	R464Q	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 219871511.	NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr) GRCh37: Chr17:40688507 GRCh38: Chr17:42536489	NAGLU	A73T	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 219776612.	NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr) GRCh37: Chr17:40695114 GRCh38: Chr17:42543096	NAGLU	A364T	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 219682613.	NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr) GRCh37: Chr17:40693102 GRCh38: Chr17:42541084	NAGLU	I300T	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219679414.	NM_000263.4(NAGLU):c.612G>T (p.Met204Ile) GRCh37: Chr17:40690437 GRCh38: Chr17:42538419	NAGLU	M204I	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 219524115.	NM_000263.4(NAGLU):c.383+5C>T GRCh37: Chr17:40688678 GRCh38: Chr17:42536660	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 219171816.	NM_000263.4(NAGLU):c.54C>A (p.Ala18=) GRCh37: Chr17:40688344 GRCh38: Chr17:42536326	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 219169217.	NM_000263.4(NAGLU):c.384-4G>T GRCh37: Chr17:40689412 GRCh38: Chr17:42537394	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 219073318.	NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln) GRCh37: Chr17:40695646 GRCh38: Chr17:42543628	NAGLU	R541Q	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 218971119.	NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys) GRCh37: Chr17:40695147 GRCh38: Chr17:42543129	NAGLU	R375C	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 218959420.	NM_000263.4(NAGLU):c.148G>C (p.Val50Leu) GRCh37: Chr17:40688438 GRCh38: Chr17:42536420	NAGLU	V50L	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 218930421.	NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys) GRCh37: Chr17:40695201 GRCh38: Chr17:42543183	NAGLU	R393C	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 218894522.	NM_000263.4(NAGLU):c.647C>A (p.Pro216His) GRCh37: Chr17:40690472 GRCh38: Chr17:42538454	NAGLU	P216H	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 218848923.	NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu) GRCh37: Chr17:40693159 GRCh38: Chr17:42541141	NAGLU	P319L	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 218798324.	NM_000263.4(NAGLU):c.1022-18C>A GRCh37: Chr17:40695028 GRCh38: Chr17:42543010	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 218731925.	NM_000263.4(NAGLU):c.1140T>A (p.Val380=) GRCh37: Chr17:40695164 GRCh38: Chr17:42543146	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 218703226.	NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln) GRCh37: Chr17:40695846 GRCh38: Chr17:42543828	NAGLU	E608Q	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 218612127.	NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser) GRCh37: Chr17:40688670 GRCh38: Chr17:42536652	NAGLU	N127S	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 218501228.	NM_000263.4(NAGLU):c.684G>A (p.Arg228=) GRCh37: Chr17:40690693 GRCh38: Chr17:42538675	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 218361829.	NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys) GRCh37: Chr17:40695329 GRCh38: Chr17:42543311	NAGLU	N435K	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 218347130.	NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val) GRCh37: Chr17:40695433 GRCh38: Chr17:42543415	NAGLU	D470V	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 217985231.	NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln) GRCh37: Chr17:40695520 GRCh38: Chr17:42543502	NAGLU	R499Q	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 217833732.	NM_000263.4(NAGLU):c.39T>G (p.Leu13=) GRCh37: Chr17:40688329 GRCh38: Chr17:42536311	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 217784733.	NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe) GRCh37: Chr17:40688327 GRCh38: Chr17:42536309	NAGLU	L13F	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Nov 18, 2021)	criteria provided, single submitter
Select item 217739834.	NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg) GRCh37: Chr17:40689559 GRCh38: Chr17:42537541	NAGLU	Q176R	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 217705235.	NM_000263.4(NAGLU):c.258C>T (p.Ala86=) GRCh37: Chr17:40688548 GRCh38: Chr17:42536530	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 217365136.	NM_000263.4(NAGLU):c.721G>T (p.Val241Leu) GRCh37: Chr17:40690730 GRCh38: Chr17:42538712	NAGLU	V241L	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 216968537.	NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro) GRCh37: Chr17:40688652 GRCh38: Chr17:42536634	NAGLU	L121P	Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216966538.	NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr) GRCh37: Chr17:40688453 GRCh38: Chr17:42536435	NAGLU	A55T	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 216959639.	NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter) GRCh37: Chr17:40695942 GRCh38: Chr17:42543924	NAGLU	Q640*	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Pathogenic (Nov 28, 2021)	criteria provided, single submitter
Select item 216959540.	NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe) GRCh37: Chr17:40693182 GRCh38: Chr17:42541164	NAGLU	L327F	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 216959441.	NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser) GRCh37: Chr17:40689504 GRCh38: Chr17:42537486	NAGLU	A158S	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 216810342.	NM_000263.4(NAGLU):c.383+3A>G GRCh37: Chr17:40688676 GRCh38: Chr17:42536658	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 216581843.	NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro) GRCh37: Chr17:40688462 GRCh38: Chr17:42536444	NAGLU	A58P	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 216524844.	NM_000263.4(NAGLU):c.34dup (p.Val12fs) GRCh37: Chr17:40688319-40688320 GRCh38: Chr17:42536301-42536302	NAGLU	V12fs	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 216406045.	NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly) GRCh37: Chr17:40695741 GRCh38: Chr17:42543723	NAGLU	S573G	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V, Inborn genetic diseases	Uncertain significance (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216396846.	NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln) GRCh37: Chr17:40695622 GRCh38: Chr17:42543604	NAGLU	R533Q	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 216278247.	NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys) GRCh37: Chr17:40695564 GRCh38: Chr17:42543546	NAGLU	R514C	Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216247048.	NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser) GRCh37: Chr17:40692985 GRCh38: Chr17:42540967	NAGLU	N261S	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 216140249.	NM_000263.4(NAGLU):c.410C>T (p.Thr137Met) GRCh37: Chr17:40689442 GRCh38: Chr17:42537424	NAGLU	T137M	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 216116150.	NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu) GRCh37: Chr17:40689478 GRCh38: Chr17:42537460	NAGLU	R149L	not provided, Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216087651.	NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile) GRCh37: Chr17:40690770 GRCh38: Chr17:42538752	NAGLU	T254I	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 216074652.	NM_000263.4(NAGLU):c.26C>T (p.Ala9Val) GRCh37: Chr17:40688316 GRCh38: Chr17:42536298	NAGLU	A9V	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 215766753.	NM_000263.4(NAGLU):c.349G>C (p.Val117Leu) GRCh37: Chr17:40688639 GRCh38: Chr17:42536621	NAGLU	V117L	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 215708254.	NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu) GRCh37: Chr17:40695372 GRCh38: Chr17:42543354	NAGLU	Q450E	Inborn genetic diseases, Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215688155.	NM_000263.4(NAGLU):c.1254A>T (p.Gly418=) GRCh37: Chr17:40695278 GRCh38: Chr17:42543260	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 215567456.	NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr) GRCh37: Chr17:40693188 GRCh38: Chr17:42541170	NAGLU	A329T	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 215503257.	NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala) GRCh37: Chr17:40693197 GRCh38: Chr17:42541179	NAGLU	T332A	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 215454058.	NM_000263.4(NAGLU):c.192C>T (p.Thr64=) GRCh37: Chr17:40688482 GRCh38: Chr17:42536464	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 215453459.	NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val) GRCh37: Chr17:40695688 GRCh38: Chr17:42543670	NAGLU	A555V	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 215407260.	NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser) GRCh37: Chr17:40688525 GRCh38: Chr17:42536507	NAGLU	G79S	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 215198261.	NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly) GRCh37: Chr17:40695913 GRCh38: Chr17:42543895	NAGLU	V630G	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 215164562.	NM_000263.4(NAGLU):c.738G>C (p.Ala246=) GRCh37: Chr17:40690747 GRCh38: Chr17:42538729	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 215020663.	NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser) GRCh37: Chr17:40695532 GRCh38: Chr17:42543514	NAGLU	N503S	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 215008864.	NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe) GRCh37: Chr17:40693165 GRCh38: Chr17:42541147	NAGLU	S321F	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 214983865.	NM_000263.4(NAGLU):c.1670G>A (p.Arg557His) GRCh37: Chr17:40695694 GRCh38: Chr17:42543676	NAGLU	R557H	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214815666.	NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr) GRCh37: Chr17:40696078 GRCh38: Chr17:42544060	NAGLU	S685T	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 214701867.	NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser) GRCh37: Chr17:40690468 GRCh38: Chr17:42538450	NAGLU	P215S	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 214689168.	NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile) GRCh37: Chr17:40695912 GRCh38: Chr17:42543894	NAGLU	V630I	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 214492069.	NM_000263.4(NAGLU):c.759C>T (p.Val253=) GRCh37: Chr17:40690768 GRCh38: Chr17:42538750	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 214477270.	NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp) GRCh37: Chr17:40689485 GRCh38: Chr17:42537467	NAGLU	E151D	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 214457671.	NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln) GRCh37: Chr17:40695939 GRCh38: Chr17:42543921	NAGLU	E639Q	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 214440372.	NM_000263.4(NAGLU):c.764+16C>T GRCh37: Chr17:40690789 GRCh38: Chr17:42538771	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 214393273.	NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr) GRCh37: Chr17:40695687 GRCh38: Chr17:42543669	NAGLU	A555T	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 214379474.	NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu) GRCh37: Chr17:40690746 GRCh38: Chr17:42538728	NAGLU	A246E	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 214337775.	NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly) GRCh37: Chr17:40688295 GRCh38: Chr17:42536277	NAGLU	E2G	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 214336076.	NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile) GRCh37: Chr17:40696149 GRCh38: Chr17:42544131	NAGLU	V709I	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 214324677.	NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro) GRCh37: Chr17:40688334 GRCh38: Chr17:42536316	NAGLU	L15P	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 214248478.	NM_000263.4(NAGLU):c.1704G>A (p.Val568=) GRCh37: Chr17:40695728 GRCh38: Chr17:42543710	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 214097479.	NM_000263.4(NAGLU):c.2215G>A (p.Val739Met) GRCh37: Chr17:40696239 GRCh38: Chr17:42544221	NAGLU	V739M	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 214086180.	NM_000263.4(NAGLU):c.1488A>C (p.Leu496=) GRCh37: Chr17:40695512 GRCh38: Chr17:42543494	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 213987681.	NM_000263.4(NAGLU):c.1541G>A (p.Arg514His) GRCh37: Chr17:40695565 GRCh38: Chr17:42543547	NAGLU	R514H	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 213934682.	NM_000263.4(NAGLU):c.849G>A (p.Pro283=) GRCh37: Chr17:40693052 GRCh38: Chr17:42541034	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 213802783.	NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter) GRCh37: Chr17:40695506 GRCh38: Chr17:42543488	NAGLU	W494*	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 213802684.	NM_000263.4(NAGLU):c.1022-2A>G GRCh37: Chr17:40695044 GRCh38: Chr17:42543026	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 213802485.	NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro) GRCh37: Chr17:40690734 GRCh38: Chr17:42538716	NAGLU	L242P	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 213802386.	NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter) GRCh37: Chr17:40689489 GRCh38: Chr17:42537471	NAGLU	E153*	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Pathogenic (Jan 21, 2022)	criteria provided, single submitter
Select item 213802287.	NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys) GRCh37: Chr17:40688525 GRCh38: Chr17:42536507	NAGLU	G79C	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 213802188.	NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu) GRCh37: Chr17:40688434 GRCh38: Chr17:42536416	NAGLU	F48L	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 213802089.	NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp) GRCh37: Chr17:40688402 GRCh38: Chr17:42536384	NAGLU	R38W	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V, Inborn genetic diseases, not provided	Pathogenic/Likely pathogenic (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213438590.	NM_000263.4(NAGLU):c.120G>A (p.Leu40=) GRCh37: Chr17:40688410 GRCh38: Chr17:42536392	NAGLU		Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 213201991.	NM_000263.4(NAGLU):c.663G>A (p.Lys221=) GRCh37: Chr17:40690488 GRCh38: Chr17:42538470	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 213150292.	NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del) GRCh37: Chr17:40695761-40695763 GRCh38: Chr17:42543743-42543745	NAGLU	R580del	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 212999993.	NM_000263.4(NAGLU):c.465C>T (p.Asp155=) GRCh37: Chr17:40689497 GRCh38: Chr17:42537479	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212920294.	NM_000263.4(NAGLU):c.780C>A (p.Val260=) GRCh37: Chr17:40692983 GRCh38: Chr17:42540965	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212830995.	NM_000263.4(NAGLU):c.588T>G (p.Pro196=) GRCh37: Chr17:40690413 GRCh38: Chr17:42538395	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 212777696.	NM_000263.4(NAGLU):c.1221G>T (p.Leu407=) GRCh37: Chr17:40695245 GRCh38: Chr17:42543227	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 212768397.	NM_000263.4(NAGLU):c.886C>A (p.Leu296Met) GRCh37: Chr17:40693089 GRCh38: Chr17:42541071	NAGLU	L296M	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 212604898.	NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter) GRCh37: Chr17:40689481 GRCh38: Chr17:42537463	NAGLU	W150*	Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 212514399.	NM_000263.4(NAGLU):c.1335C>G (p.Pro445=) GRCh37: Chr17:40695359 GRCh38: Chr17:42543341	NAGLU		Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 2125049100.	NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu) GRCh37: Chr17:40688346 GRCh38: Chr17:42536328	NAGLU	G19E	Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter

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