ClinVar for MedGen (Select 44514) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26267831.	NM_000046.5(ARSB):c.[215T>A;219_230delinsG] GRCh37: Chr5:78280857 Chr5:78280842-78280853 GRCh38: Chr5:78985034 Chr5:78985019-78985030	ARSB, LOC129994126, ARSB, LOC129994126	L72Q, D73fs	Mucopolysaccharidosis, type vi, severe	Pathogenic (Jan 1, 1996)	no assertion criteria provided
Select item 25852742.	NM_000046.5(ARSB):c.191del (p.Gly64fs) GRCh37: Chr5:78280881 GRCh38: Chr5:78985058	LOC129994126, ARSB	G64fs	Mucopolysaccharidosis type 6	Likely pathogenic	criteria provided, single submitter
Select item 25823003.	NM_000046.5(ARSB):c.352_365dup (p.Pro123fs) GRCh37: Chr5:78264962-78264963 GRCh38: Chr5:78969139-78969140	ARSB	P123fs	Mucopolysaccharidosis type 6	Pathogenic (Aug 10, 2023)	criteria provided, single submitter
Select item 25791294.	NM_000046.5(ARSB):c.905G>A (p.Gly302Glu) GRCh37: Chr5:78181644 GRCh38: Chr5:78885821	ARSB	G302E	Mucopolysaccharidosis type 6	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 25039055.	NM_000046.5(ARSB):c.312+2T>G GRCh37: Chr5:78280758 GRCh38: Chr5:78984935	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely pathogenic (Apr 6, 2023)	criteria provided, single submitter
Select item 24460556.	NM_000046.5(ARSB):c.438del (p.Trp146fs) GRCh37: Chr5:78264890 GRCh38: Chr5:78969067	ARSB	W146fs	Mucopolysaccharidosis type 6	Pathogenic (Mar 18, 2023)	criteria provided, single submitter
Select item 24392107.	NM_000046.5(ARSB):c.1143-22011C>A GRCh37: Chr5:78157260 GRCh38: Chr5:78861437	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 24392098.	NM_000046.5(ARSB):c.76CTG[7] (p.Leu32_Ala33insLeuLeu) GRCh37: Chr5:78280981-78280982 GRCh38: Chr5:78985158-78985159	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 24221939.	NC_000005.9:g.(?_78135159)_(78281071_?)dup GRCh37: Chr5:78135159-78281071	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 242219210.	NC_000005.9:g.(?_78135159)_(78135269_?)dup GRCh37: Chr5:78135159-78135269	ARSB		Mucopolysaccharidosis type 6	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 242219111.	NC_000005.9:g.(?_78251108)_(78251335_?)del GRCh37: Chr5:78251108-78251335	ARSB		Mucopolysaccharidosis type 6	Pathogenic (Nov 9, 2021)	criteria provided, single submitter
Select item 241812012.	NM_000046.5(ARSB):c.683C>T (p.Pro228Leu) GRCh37: Chr5:78260246 GRCh38: Chr5:78964423	ARSB	P228L	Mucopolysaccharidosis type 6	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 241407613.	NM_000046.5(ARSB):c.538C>T (p.Arg180Cys) GRCh37: Chr5:78260391 GRCh38: Chr5:78964568	ARSB	R180C	Mucopolysaccharidosis type 6	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220366114.	NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg) GRCh37: Chr5:78077686 GRCh38: Chr5:78781863	ARSB	T442R	Mucopolysaccharidosis type 6	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 220204415.	NM_000046.5(ARSB):c.44C>T (p.Pro15Leu) GRCh37: Chr5:78281028 GRCh38: Chr5:78985205	ARSB, LOC129994126	P15L	Mucopolysaccharidosis type 6	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 219969116.	NM_000046.5(ARSB):c.499+5T>C GRCh37: Chr5:78264824 GRCh38: Chr5:78969001	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219918517.	NM_000046.5(ARSB):c.312+15del GRCh37: Chr5:78280745 GRCh38: Chr5:78984922	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Benign (Aug 27, 2022)	criteria provided, single submitter
Select item 219776318.	NM_000046.5(ARSB):c.917T>C (p.Leu306Ser) GRCh37: Chr5:78181632 GRCh38: Chr5:78885809	ARSB	L306S	Mucopolysaccharidosis type 6	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 219177619.	NM_000046.5(ARSB):c.17_21dup (p.Ser8fs) GRCh37: Chr5:78281050-78281051 GRCh38: Chr5:78985227-78985228	ARSB, LOC129994126	S8fs	Mucopolysaccharidosis type 6	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 218806720.	NM_000046.5(ARSB):c.291G>C (p.Gln97His) GRCh37: Chr5:78280781 GRCh38: Chr5:78984958	ARSB, LOC129994126	Q97H	Mucopolysaccharidosis type 6	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 218450321.	NM_000046.5(ARSB):c.838G>A (p.Val280Ile) GRCh37: Chr5:78251178 GRCh38: Chr5:78955355	ARSB	V280I	Mucopolysaccharidosis type 6	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 218180422.	NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys) GRCh37: Chr5:78251219 GRCh38: Chr5:78955396	ARSB	Y266C	Mucopolysaccharidosis type 6	Likely pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 218038523.	NM_000046.5(ARSB):c.1142+10C>T GRCh37: Chr5:78181397 GRCh38: Chr5:78885574	ARSB		Mucopolysaccharidosis type 6	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 217630824.	NM_000046.5(ARSB):c.925G>A (p.Gly309Ser) GRCh37: Chr5:78181624 GRCh38: Chr5:78885801	ARSB	G309S	Mucopolysaccharidosis type 6, Inborn genetic diseases	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217395025.	NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr) GRCh37: Chr5:78076371 GRCh38: Chr5:78780548	ARSB	R484T	Mucopolysaccharidosis type 6	Likely pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 217302626.	NM_000046.5(ARSB):c.846A>G (p.Ala282=) GRCh37: Chr5:78251170 GRCh38: Chr5:78955347	ARSB		Mucopolysaccharidosis type 6	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 217156727.	NM_000046.5(ARSB):c.680C>A (p.Pro227Gln) GRCh37: Chr5:78260249 GRCh38: Chr5:78964426	ARSB	P227Q	Mucopolysaccharidosis type 6	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 216951328.	NM_000046.5(ARSB):c.245T>C (p.Leu82Pro) GRCh37: Chr5:78280827 GRCh38: Chr5:78985004	ARSB, LOC129994126	L82P	Mucopolysaccharidosis type 6	Likely pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 216288829.	NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys) GRCh37: Chr5:78076264 GRCh38: Chr5:78780441	ARSB	R520C	Mucopolysaccharidosis type 6	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 216286730.	NM_000046.5(ARSB):c.189C>T (p.His63=) GRCh37: Chr5:78280883 GRCh38: Chr5:78985060	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 216273931.	NM_000046.5(ARSB):c.976G>A (p.Val326Ile) GRCh37: Chr5:78181573 GRCh38: Chr5:78885750	ARSB	V326I	Mucopolysaccharidosis type 6	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 216180832.	NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter) GRCh37: Chr5:78076283 GRCh38: Chr5:78780460	ARSB	Y513*	Mucopolysaccharidosis type 6	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 215983033.	NM_000046.5(ARSB):c.210G>A (p.Pro70=) GRCh37: Chr5:78280862 GRCh38: Chr5:78985039	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 215962234.	NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu) GRCh37: Chr5:78135184 GRCh38: Chr5:78839361	ARSB	S403L	Mucopolysaccharidosis type 6	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 215690835.	NM_000046.5(ARSB):c.1046A>T (p.His349Leu) GRCh37: Chr5:78181503 GRCh38: Chr5:78885680	ARSB	H349L	Mucopolysaccharidosis type 6	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 215632336.	NM_000046.5(ARSB):c.5G>A (p.Gly2Asp) GRCh37: Chr5:78281067 GRCh38: Chr5:78985244	ARSB, LOC129994126	G2D	Mucopolysaccharidosis type 6	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 215464237.	NM_000046.5(ARSB):c.499+6G>A GRCh37: Chr5:78264823 GRCh38: Chr5:78969000	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 215323238.	NM_000046.5(ARSB):c.556G>A (p.Ala186Thr) GRCh37: Chr5:78260373 GRCh38: Chr5:78964550	ARSB	A186T	Mucopolysaccharidosis type 6, Inborn genetic diseases	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215006939.	NM_000046.5(ARSB):c.1181A>G (p.Asn394Ser) GRCh37: Chr5:78135211 GRCh38: Chr5:78839388	ARSB	N394S	Mucopolysaccharidosis type 6	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 214789740.	NM_000046.5(ARSB):c.46C>G (p.Arg16Gly) GRCh37: Chr5:78281026 GRCh38: Chr5:78985203	ARSB, LOC129994126	R16G	Mucopolysaccharidosis type 6	Uncertain significance (Apr 11, 2021)	criteria provided, single submitter
Select item 214676541.	NM_000046.5(ARSB):c.1337-14G>C GRCh37: Chr5:78076499 GRCh38: Chr5:78780676	ARSB		Mucopolysaccharidosis type 6	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 214632242.	NM_000046.5(ARSB):c.15C>T (p.Gly5=) GRCh37: Chr5:78281057 GRCh38: Chr5:78985234	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 214568043.	NM_000046.5(ARSB):c.25T>C (p.Leu9=) GRCh37: Chr5:78281047 GRCh38: Chr5:78985224	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 214215444.	NM_000046.5(ARSB):c.1250C>T (p.Ser417Phe) GRCh37: Chr5:78077761 GRCh38: Chr5:78781938	ARSB	S417F	Mucopolysaccharidosis type 6	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214211645.	NM_000046.5(ARSB):c.309C>T (p.Tyr103=) GRCh37: Chr5:78280763 GRCh38: Chr5:78984940	LOC129994126, ARSB		Mucopolysaccharidosis type 6	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 214210146.	NM_000046.5(ARSB):c.1342G>A (p.Gly448Ser) GRCh37: Chr5:78076480 GRCh38: Chr5:78780657	ARSB	G448S	Mucopolysaccharidosis type 6	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 214148247.	NM_000046.5(ARSB):c.1336+4G>T GRCh37: Chr5:78077671 GRCh38: Chr5:78781848	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 214142248.	NM_000046.5(ARSB):c.39C>T (p.Pro13=) GRCh37: Chr5:78281033 GRCh38: Chr5:78985210	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 214072849.	NM_000046.5(ARSB):c.755T>G (p.Leu252Trp) GRCh37: Chr5:78251261 GRCh38: Chr5:78955438	ARSB	L252W	Mucopolysaccharidosis type 6	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 213888950.	NM_000046.5(ARSB):c.1247A>T (p.Asp416Val) GRCh37: Chr5:78077764 GRCh38: Chr5:78781941	ARSB	D416V	Mucopolysaccharidosis type 6	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 213588351.	NM_000046.5(ARSB):c.945A>G (p.Arg315=) GRCh37: Chr5:78181604 GRCh38: Chr5:78885781	ARSB		Mucopolysaccharidosis type 6	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 213480052.	NM_000046.5(ARSB):c.625A>T (p.Met209Leu) GRCh37: Chr5:78260304 GRCh38: Chr5:78964481	ARSB	M209L	Mucopolysaccharidosis type 6	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 213345653.	NM_000046.5(ARSB):c.1143-1G>T GRCh37: Chr5:78135250 GRCh38: Chr5:78839427	ARSB		Mucopolysaccharidosis type 6	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 212196954.	NM_000046.5(ARSB):c.92T>C (p.Leu31Ser) GRCh37: Chr5:78280980 GRCh38: Chr5:78985157	ARSB, LOC129994126	L31S	Mucopolysaccharidosis type 6	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 211597155.	NM_000046.5(ARSB):c.924G>C (p.Gly308=) GRCh37: Chr5:78181625 GRCh38: Chr5:78885802	ARSB		Mucopolysaccharidosis type 6	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 210736356.	NM_000046.5(ARSB):c.354G>A (p.Gln118=) GRCh37: Chr5:78264974 GRCh38: Chr5:78969151	ARSB		Mucopolysaccharidosis type 6	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 210635657.	NM_000046.5(ARSB):c.228G>A (p.Ala76=) GRCh37: Chr5:78280844 GRCh38: Chr5:78985021	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 210372858.	NM_000046.5(ARSB):c.1089A>G (p.Gly363=) GRCh37: Chr5:78181460 GRCh38: Chr5:78885637	ARSB		Mucopolysaccharidosis type 6	Likely benign (Sep 11, 2022)	criteria provided, single submitter
Select item 210345959.	NM_000046.5(ARSB):c.99G>A (p.Ala33=) GRCh37: Chr5:78280973 GRCh38: Chr5:78985150	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210250460.	NM_000046.5(ARSB):c.680del (p.Pro227fs) GRCh37: Chr5:78260249 GRCh38: Chr5:78964426	ARSB	P227fs	Mucopolysaccharidosis type 6	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 209351461.	NM_000046.5(ARSB):c.244C>G (p.Leu82Val) GRCh37: Chr5:78280828 GRCh38: Chr5:78985005	ARSB, LOC129994126	L82V	Mucopolysaccharidosis type 6	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 209112262.	NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs) GRCh37: Chr5:78181488-78181489 GRCh38: Chr5:78885665-78885666	ARSB	L354fs	Mucopolysaccharidosis type 6	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 208950263.	NM_000046.5(ARSB):c.956G>A (p.Trp319Ter) GRCh37: Chr5:78181593 GRCh38: Chr5:78885770	ARSB	W319*	Mucopolysaccharidosis type 6	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 208682864.	NM_000046.5(ARSB):c.1336+8C>A GRCh37: Chr5:78077667 GRCh38: Chr5:78781844	ARSB		Mucopolysaccharidosis type 6	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 208145565.	NM_000046.5(ARSB):c.312+19_312+41del GRCh37: Chr5:78280719-78280741 GRCh38: Chr5:78984896-78984918	LOC129994126, ARSB		Mucopolysaccharidosis type 6	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208072466.	NM_000046.5(ARSB):c.410G>A (p.Gly137Asp) GRCh37: Chr5:78264918 GRCh38: Chr5:78969095	ARSB	G137D	Mucopolysaccharidosis type 6	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 208012867.	NM_000046.5(ARSB):c.1024G>A (p.Val342Met) GRCh37: Chr5:78181525 GRCh38: Chr5:78885702	ARSB	V342M	Mucopolysaccharidosis type 6	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207979568.	NM_000046.5(ARSB):c.1211C>T (p.Pro404Leu) GRCh37: Chr5:78135181 GRCh38: Chr5:78839358	ARSB	P404L	Mucopolysaccharidosis type 6	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 207946069.	NM_000046.5(ARSB):c.1047C>T (p.His349=) GRCh37: Chr5:78181502 GRCh38: Chr5:78885679	ARSB		Mucopolysaccharidosis type 6	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 207116270.	NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn) GRCh37: Chr5:78076331 GRCh38: Chr5:78780508	ARSB	K497N	Mucopolysaccharidosis type 6	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 206975171.	NM_000046.5(ARSB):c.690+16A>G GRCh37: Chr5:78260223 GRCh38: Chr5:78964400	ARSB		Mucopolysaccharidosis type 6	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 206929072.	NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter) GRCh37: Chr5:78280817 GRCh38: Chr5:78984994	ARSB, LOC129994126	Y85*	Mucopolysaccharidosis type 6	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 205831573.	NM_000046.5(ARSB):c.76CTG[6] (p.Leu32_Ala33insLeu) GRCh37: Chr5:78280981-78280982 GRCh38: Chr5:78985158-78985159	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 205694874.	NM_000046.5(ARSB):c.34G>C (p.Gly12Arg) GRCh37: Chr5:78281038 GRCh38: Chr5:78985215	ARSB, LOC129994126	G12R	Mucopolysaccharidosis type 6	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 205411875.	NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp) GRCh37: Chr5:78181516 GRCh38: Chr5:78885693	ARSB	R345W	Mucopolysaccharidosis type 6	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 204988176.	NM_000046.5(ARSB):c.523T>C (p.Tyr175His) GRCh37: Chr5:78260406 GRCh38: Chr5:78964583	ARSB	Y175H	Mucopolysaccharidosis type 6, Inborn genetic diseases	Uncertain significance (Jun 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204979577.	NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser) GRCh37: Chr5:78181468 GRCh38: Chr5:78885645	ARSB	A361S	Mucopolysaccharidosis type 6	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 204913378.	NM_000046.5(ARSB):c.283C>A (p.Arg95=) GRCh37: Chr5:78280789 GRCh38: Chr5:78984966	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 203983679.	NM_000046.5(ARSB):c.500-10A>T GRCh37: Chr5:78260439 GRCh38: Chr5:78964616	ARSB		Mucopolysaccharidosis type 6	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 203869280.	NM_000046.5(ARSB):c.85C>T (p.Leu29=) GRCh37: Chr5:78280987 GRCh38: Chr5:78985164	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 203842081.	NM_000046.5(ARSB):c.54del (p.Leu19fs) GRCh37: Chr5:78281018 GRCh38: Chr5:78985195	ARSB, LOC129994126	L19fs	Mucopolysaccharidosis type 6	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 203632382.	NM_000046.5(ARSB):c.500-8T>A GRCh37: Chr5:78260437 GRCh38: Chr5:78964614	ARSB		Mucopolysaccharidosis type 6	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203628683.	NM_000046.5(ARSB):c.777A>G (p.Gln259=) GRCh37: Chr5:78251239 GRCh38: Chr5:78955416	ARSB		Mucopolysaccharidosis type 6	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203132384.	NM_000046.5(ARSB):c.327A>G (p.Leu109=) GRCh37: Chr5:78265001 GRCh38: Chr5:78969178	ARSB		Mucopolysaccharidosis type 6	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 202987785.	NM_000046.5(ARSB):c.691-8C>T GRCh37: Chr5:78251333 GRCh38: Chr5:78955510	ARSB		Mucopolysaccharidosis type 6	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 202871786.	NM_000046.5(ARSB):c.963G>T (p.Leu321=) GRCh37: Chr5:78181586 GRCh38: Chr5:78885763	ARSB		Mucopolysaccharidosis type 6	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 202813287.	NM_000046.5(ARSB):c.745G>T (p.Glu249Ter) GRCh37: Chr5:78251271 GRCh38: Chr5:78955448	ARSB	E249*	Mucopolysaccharidosis type 6	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 202636588.	NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu) GRCh37: Chr5:78076364 GRCh38: Chr5:78780541	ARSB	D486E	Mucopolysaccharidosis type 6	Likely pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 202579089.	NM_000046.5(ARSB):c.225G>T (p.Leu75=) GRCh37: Chr5:78280847 GRCh38: Chr5:78985024	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 202280790.	NM_000046.5(ARSB):c.15C>A (p.Gly5=) GRCh37: Chr5:78281057 GRCh38: Chr5:78985234	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202231091.	NM_000046.5(ARSB):c.339A>C (p.Ile113=) GRCh37: Chr5:78264989 GRCh38: Chr5:78969166	ARSB		Mucopolysaccharidosis type 6	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 201909892.	NM_000046.5(ARSB):c.1214-6T>G GRCh37: Chr5:78077803 GRCh38: Chr5:78781980	ARSB		Mucopolysaccharidosis type 6	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201755993.	NM_000046.5(ARSB):c.359dup (p.Ser120fs) GRCh37: Chr5:78264968-78264969 GRCh38: Chr5:78969145-78969146	ARSB	S120fs	Mucopolysaccharidosis type 6	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 201569494.	NM_000046.5(ARSB):c.1504C>T (p.Leu502=) GRCh37: Chr5:78076318 GRCh38: Chr5:78780495	ARSB		Mucopolysaccharidosis type 6	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 201391095.	NM_000046.5(ARSB):c.376G>T (p.Glu126Ter) GRCh37: Chr5:78264952 GRCh38: Chr5:78969129	ARSB	E126*	Mucopolysaccharidosis type 6	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 201223496.	NM_000046.5(ARSB):c.806T>C (p.Met269Thr) GRCh37: Chr5:78251210 GRCh38: Chr5:78955387	ARSB	M269T	Mucopolysaccharidosis type 6	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 200707897.	NM_000046.5(ARSB):c.899-10T>C GRCh37: Chr5:78181660 GRCh38: Chr5:78885837	ARSB		Mucopolysaccharidosis type 6	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 200503798.	NM_000046.5(ARSB):c.6T>A (p.Gly2=) GRCh37: Chr5:78281066 GRCh38: Chr5:78985243	ARSB, LOC129994126		Mucopolysaccharidosis type 6	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 199922799.	NM_000046.5(ARSB):c.1581G>C (p.Gly527=) GRCh37: Chr5:78076241 GRCh38: Chr5:78780418	ARSB		Mucopolysaccharidosis type 6	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 1999218100.	NM_000046.5(ARSB):c.387G>C (p.Leu129=) GRCh37: Chr5:78264941 GRCh38: Chr5:78969118	ARSB		Mucopolysaccharidosis type 6	Likely benign (Jun 10, 2022)	criteria provided, single submitter

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