ClinVar for MedGen (Select 6071) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25739961.	NM_000487.6(ARSA):c.374A>C (p.Lys125Thr) GRCh37: Chr22:51065685 GRCh38: Chr22:50627257	ARSA	K125T, K39T	Metachromatic leukodystrophy	Pathogenic (Jul 27, 2023)	criteria provided, single submitter
Select item 25016732.	NM_000487.6(ARSA):c.937dup (p.Arg313fs) GRCh37: Chr22:51064623-51064624 GRCh38: Chr22:50626195-50626196	ARSA	R227fs, R313fs	Metachromatic leukodystrophy	Likely pathogenic	criteria provided, single submitter
Select item 24454663.	NM_000487.6(ARSA):c.620C>A (p.Ala207Asp) GRCh37: Chr22:51065326 GRCh38: Chr22:50626898	ARSA	A121D, A207D	Metachromatic leukodystrophy	Likely pathogenic	criteria provided, single submitter
Select item 24442194.	NM_000487.6(ARSA):c.107G>A (p.Gly36Glu) GRCh37: Chr22:51066101 GRCh38: Chr22:50627673	ARSA	G36E	Metachromatic leukodystrophy	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24392085.	NM_000487.6(ARSA):c.1059C>T (p.Val353=) GRCh37: Chr22:51064412 GRCh38: Chr22:50625984	ARSA		Metachromatic leukodystrophy	Uncertain significance (Aug 11, 2021)	criteria provided, single submitter
Select item 24392076.	NM_000487.6(ARSA):c.1400A>C (p.Gln467Pro) GRCh37: Chr22:51063703 GRCh38: Chr22:50625275	ARSA	Q381P, Q467P	Metachromatic leukodystrophy	Uncertain significance (Sep 2, 2020)	criteria provided, single submitter
Select item 24291117.	NM_000487.6(ARSA):c.938G>T (p.Arg313Leu) GRCh37: Chr22:51064623 GRCh38: Chr22:50626195	ARSA	R227L, R313L	Metachromatic leukodystrophy	Uncertain significance	criteria provided, single submitter
Select item 24281788.	NM_000487.6(ARSA):c.454T>A (p.Ser152Thr) GRCh37: Chr22:51065605 GRCh38: Chr22:50627177	ARSA	S152T, S66T	Metachromatic leukodystrophy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 24278309.	NM_000487.6(ARSA):c.198G>C (p.Val66=) GRCh37: Chr22:51066010 GRCh38: Chr22:50627582	ARSA		Metachromatic leukodystrophy	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 242314910.	NC_000022.10:g.(?_50167881)_(51066207_?)del GRCh37: Chr22:50167881-51066207	MAPK12, MAPK8IP2, PANX2, PIM3, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, ADM2, ALG12, ARSA, BRD1, CHKB, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4		Metachromatic leukodystrophy, not provided	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 242314811.	NC_000022.10:g.(?_51063573)_(51064511_?)del GRCh37: Chr22:51063573-51064511	ARSA		Metachromatic leukodystrophy	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 241865312.	NM_000487.6(ARSA):c.1005C>A (p.Ser335=) GRCh37: Chr22:51064466 GRCh38: Chr22:50626038	ARSA		Metachromatic leukodystrophy	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 241533413.	NM_000487.6(ARSA):c.1429A>T (p.Ser477Cys) GRCh37: Chr22:51063674 GRCh38: Chr22:50625246	ARSA	S391C, S477C	Metachromatic leukodystrophy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 241441514.	NM_000487.6(ARSA):c.189C>T (p.Asp63=) GRCh37: Chr22:51066019 GRCh38: Chr22:50627591	ARSA		Metachromatic leukodystrophy	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 241437515.	NM_000487.6(ARSA):c.619G>A (p.Ala207Thr) GRCh37: Chr22:51065327 GRCh38: Chr22:50626899	ARSA	A121T, A207T	Metachromatic leukodystrophy	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 221297516.	NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro) GRCh37: Chr22:51064099 GRCh38: Chr22:50625671	ARSA	Q287P, Q373P	Metachromatic leukodystrophy, Inborn genetic diseases	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220182517.	NM_000487.6(ARSA):c.1252G>A (p.Ala418Thr) GRCh37: Chr22:51063851 GRCh38: Chr22:50625423	ARSA	A332T, A418T	Metachromatic leukodystrophy	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 219954918.	NM_000487.6(ARSA):c.25C>A (p.Leu9Ile) GRCh37: Chr22:51066183 GRCh38: Chr22:50627755	ARSA	L9I	Metachromatic leukodystrophy	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 219786619.	NM_000487.6(ARSA):c.466-19C>A GRCh37: Chr22:51065499 GRCh38: Chr22:50627071	ARSA		Metachromatic leukodystrophy	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 219773420.	NM_000487.6(ARSA):c.568G>C (p.Glu190Gln) GRCh37: Chr22:51065378 GRCh38: Chr22:50626950	ARSA	E104Q, E190Q	Metachromatic leukodystrophy	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 219745621.	NM_000487.6(ARSA):c.1435G>A (p.Val479Met) GRCh37: Chr22:51063668 GRCh38: Chr22:50625240	ARSA	V393M, V479M	Metachromatic leukodystrophy	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 219382422.	NM_000487.6(ARSA):c.1108-16C>T GRCh37: Chr22:51064125 GRCh38: Chr22:50625697	ARSA		Metachromatic leukodystrophy	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 219210523.	NM_000487.6(ARSA):c.446T>C (p.Ile149Thr) GRCh37: Chr22:51065613 GRCh38: Chr22:50627185	ARSA	I149T, I63T	Metachromatic leukodystrophy	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 219176024.	NM_000487.6(ARSA):c.301G>T (p.Gly101Cys) GRCh37: Chr22:51065758 GRCh38: Chr22:50627330	ARSA	G101C, G15C	Metachromatic leukodystrophy	Likely pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 219109525.	NM_000487.6(ARSA):c.685-6C>T GRCh37: Chr22:51065194 GRCh38: Chr22:50626766	ARSA		Metachromatic leukodystrophy	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 218702326.	NM_000487.6(ARSA):c.800T>C (p.Ile267Thr) GRCh37: Chr22:51065073 GRCh38: Chr22:50626645	ARSA	I267T, I181T	Metachromatic leukodystrophy	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 218642127.	NM_000487.6(ARSA):c.1052C>T (p.Pro351Leu) GRCh37: Chr22:51064419 GRCh38: Chr22:50625991	ARSA	P265L, P351L	Metachromatic leukodystrophy	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 218532228.	NM_000487.6(ARSA):c.10G>A (p.Gly4Arg) GRCh37: Chr22:51066198 GRCh38: Chr22:50627770	ARSA	G4R	Metachromatic leukodystrophy	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 218256729.	NM_000487.6(ARSA):c.820G>A (p.Glu274Lys) GRCh37: Chr22:51065053 GRCh38: Chr22:50626625	ARSA	E188K, E274K	Metachromatic leukodystrophy	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 218249430.	NM_000487.6(ARSA):c.465+12C>T GRCh37: Chr22:51065582 GRCh38: Chr22:50627154	ARSA		Metachromatic leukodystrophy	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 217339031.	NM_000487.6(ARSA):c.1492C>T (p.Arg498Cys) GRCh37: Chr22:51063611 GRCh38: Chr22:50625183	ARSA	R412C, R498C	Metachromatic leukodystrophy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 217266532.	NM_000487.6(ARSA):c.789G>C (p.Leu263=) GRCh37: Chr22:51065084 GRCh38: Chr22:50626656	ARSA		Metachromatic leukodystrophy	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 217166633.	NM_000487.6(ARSA):c.978C>T (p.Pro326=) GRCh37: Chr22:51064583 GRCh38: Chr22:50626155	ARSA		Metachromatic leukodystrophy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 217070634.	NM_000487.6(ARSA):c.942G>A (p.Glu314=) GRCh37: Chr22:51064619 GRCh38: Chr22:50626191	ARSA		Metachromatic leukodystrophy	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 216800235.	NM_000487.6(ARSA):c.565G>A (p.Val189Met) GRCh37: Chr22:51065381 GRCh38: Chr22:50626953	ARSA	V103M, V189M	Inborn genetic diseases, Metachromatic leukodystrophy	Uncertain significance (May 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216681736.	NM_000487.6(ARSA):c.855-20dup GRCh37: Chr22:51064725-51064726 GRCh38: Chr22:50626297-50626298	ARSA		Metachromatic leukodystrophy	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 215800637.	NM_000487.6(ARSA):c.498G>A (p.Pro166=) GRCh37: Chr22:51065448 GRCh38: Chr22:50627020	ARSA		Metachromatic leukodystrophy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 215740738.	NM_000487.6(ARSA):c.465+17C>T GRCh37: Chr22:51065577 GRCh38: Chr22:50627149	ARSA		Metachromatic leukodystrophy	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 215740639.	NM_000487.6(ARSA):c.465+17_465+18insT GRCh37: Chr22:51065576-51065577 GRCh38: Chr22:50627148-50627149	ARSA		Metachromatic leukodystrophy	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 215682440.	NM_000487.6(ARSA):c.323C>T (p.Thr108Ile) GRCh37: Chr22:51065736 GRCh38: Chr22:50627308	ARSA	T108I, T22I	Metachromatic leukodystrophy	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 215233341.	NM_000487.6(ARSA):c.427T>C (p.Phe143Leu) GRCh37: Chr22:51065632 GRCh38: Chr22:50627204	ARSA	F57L, F143L	Metachromatic leukodystrophy	Pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 215187342.	NM_000487.6(ARSA):c.116G>A (p.Gly39Asp) GRCh37: Chr22:51066092 GRCh38: Chr22:50627664	ARSA	G39D	Metachromatic leukodystrophy	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 214859143.	NM_000487.6(ARSA):c.979+18C>T GRCh37: Chr22:51064564 GRCh38: Chr22:50626136	ARSA		Metachromatic leukodystrophy	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 214798944.	NM_000487.6(ARSA):c.979+10C>T GRCh37: Chr22:51064572 GRCh38: Chr22:50626144	ARSA		Metachromatic leukodystrophy	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 214670545.	NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr) GRCh37: Chr22:51063880 GRCh38: Chr22:50625452	ARSA	S322T, S408T	Metachromatic leukodystrophy	Likely pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 214594646.	NM_000487.6(ARSA):c.1211-3C>T GRCh37: Chr22:51063895 GRCh38: Chr22:50625467	ARSA		Metachromatic leukodystrophy	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 214450647.	NM_000487.6(ARSA):c.854+17G>C GRCh37: Chr22:51065002 GRCh38: Chr22:50626574	ARSA		Metachromatic leukodystrophy	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 214302048.	NM_000487.6(ARSA):c.1149C>A (p.Asp383Glu) GRCh37: Chr22:51064068 GRCh38: Chr22:50625640	ARSA	D297E, D383E	Metachromatic leukodystrophy	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 214171049.	NM_000487.6(ARSA):c.1453C>T (p.Pro485Ser) GRCh37: Chr22:51063650 GRCh38: Chr22:50625222	ARSA	P399S, P485S	Metachromatic leukodystrophy	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 214143350.	NM_000487.6(ARSA):c.870T>C (p.Arg290=) GRCh37: Chr22:51064691 GRCh38: Chr22:50626263	ARSA		Metachromatic leukodystrophy	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 214129351.	NM_000487.6(ARSA):c.1408G>A (p.Ala470Thr) GRCh37: Chr22:51063695 GRCh38: Chr22:50625267	ARSA	A384T, A470T	Metachromatic leukodystrophy	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 214052852.	NM_000487.6(ARSA):c.1210+18A>C GRCh37: Chr22:51063989 GRCh38: Chr22:50625561	ARSA		Metachromatic leukodystrophy	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 213960153.	NM_000487.6(ARSA):c.765G>C (p.Glu255Asp) GRCh37: Chr22:51065108 GRCh38: Chr22:50626680	ARSA	E169D, E255D	Metachromatic leukodystrophy	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 213934154.	NM_000487.6(ARSA):c.973G>A (p.Ala325Thr) GRCh37: Chr22:51064588 GRCh38: Chr22:50626160	ARSA	A239T, A325T	Metachromatic leukodystrophy	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 213846755.	NM_000487.6(ARSA):c.38T>A (p.Leu13Gln) GRCh37: Chr22:51066170 GRCh38: Chr22:50627742	ARSA	L13Q	Metachromatic leukodystrophy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 213846656.	NM_000487.6(ARSA):c.412C>A (p.Pro138Thr) GRCh37: Chr22:51065647 GRCh38: Chr22:50627219	ARSA	P52T, P138T	Metachromatic leukodystrophy	Pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 213846557.	NM_000487.6(ARSA):c.436T>C (p.Phe146Leu) GRCh37: Chr22:51065623 GRCh38: Chr22:50627195	ARSA	F60L, F146L	Metachromatic leukodystrophy	Likely pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 213846458.	NM_000487.6(ARSA):c.907G>A (p.Gly303Arg) GRCh37: Chr22:51064654 GRCh38: Chr22:50626226	ARSA	G217R, G303R	Metachromatic leukodystrophy	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 213846359.	NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser) GRCh37: Chr22:51063824 GRCh38: Chr22:50625396	ARSA	P341S, P427S	not specified, Metachromatic leukodystrophy	Conflicting interpretations of pathogenicity (May 19, 2023)	criteria provided, conflicting interpretations
Select item 213696160.	NM_000487.6(ARSA):c.225-12C>T GRCh37: Chr22:51065846 GRCh38: Chr22:50627418	ARSA		Metachromatic leukodystrophy	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 213540461.	NM_000487.6(ARSA):c.1294G>A (p.Asp432Asn) GRCh37: Chr22:51063809 GRCh38: Chr22:50625381	ARSA	D432N, D346N	Metachromatic leukodystrophy	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213440162.	NM_000487.6(ARSA):c.1488C>G (p.Thr496=) GRCh37: Chr22:51063615 GRCh38: Chr22:50625187	ARSA		Metachromatic leukodystrophy	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213245563.	NM_000487.6(ARSA):c.837C>T (p.Ile279=) GRCh37: Chr22:51065036 GRCh38: Chr22:50626608	ARSA		Metachromatic leukodystrophy	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 213239564.	NM_000487.6(ARSA):c.231C>G (p.Ala77=) GRCh37: Chr22:51065828 GRCh38: Chr22:50627400	ARSA		Metachromatic leukodystrophy	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 212850865.	NM_000487.6(ARSA):c.1297C>T (p.Leu433=) GRCh37: Chr22:51063806 GRCh38: Chr22:50625378	ARSA		Metachromatic leukodystrophy	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212786566.	NM_000487.6(ARSA):c.645_660dup (p.Phe221fs) GRCh37: Chr22:51065285-51065286 GRCh38: Chr22:50626857-50626858	ARSA	F135fs, F221fs	Metachromatic leukodystrophy	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 212714767.	NM_000487.6(ARSA):c.570G>A (p.Glu190=) GRCh37: Chr22:51065376 GRCh38: Chr22:50626948	ARSA		Metachromatic leukodystrophy	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 212700168.	NM_000487.6(ARSA):c.394C>T (p.Pro132Ser) GRCh37: Chr22:51065665 GRCh38: Chr22:50627237	ARSA	P46S, P132S	Metachromatic leukodystrophy	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 212542269.	NM_000487.6(ARSA):c.477G>A (p.Gln159=) GRCh37: Chr22:51065469 GRCh38: Chr22:50627041	ARSA		Metachromatic leukodystrophy	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212320970.	NM_000487.6(ARSA):c.386G>A (p.Gly129Glu) GRCh37: Chr22:51065673 GRCh38: Chr22:50627245	ARSA	G129E, G43E	Metachromatic leukodystrophy	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212291671.	NM_000487.6(ARSA):c.770A>T (p.Asp257Val) GRCh37: Chr22:51065103 GRCh38: Chr22:50626675	ARSA	D257V, D171V	Metachromatic leukodystrophy	Likely pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 212090672.	NM_000487.6(ARSA):c.104A>T (p.Tyr35Phe) GRCh37: Chr22:51066104 GRCh38: Chr22:50627676	ARSA	Y35F	Metachromatic leukodystrophy	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 210957373.	NM_000487.6(ARSA):c.176T>C (p.Leu59Pro) GRCh37: Chr22:51066032 GRCh38: Chr22:50627604	ARSA	L59P	Metachromatic leukodystrophy	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210953974.	NM_000487.6(ARSA):c.264C>T (p.Gly88=) GRCh37: Chr22:51065795 GRCh38: Chr22:50627367	ARSA		Metachromatic leukodystrophy	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 210759475.	NM_000487.6(ARSA):c.951G>A (p.Leu317=) GRCh37: Chr22:51064610 GRCh38: Chr22:50626182	ARSA		Metachromatic leukodystrophy	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 210440276.	NM_000487.6(ARSA):c.693C>T (p.His231=) GRCh37: Chr22:51065180 GRCh38: Chr22:50626752	ARSA		Metachromatic leukodystrophy	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 210156677.	NM_000487.6(ARSA):c.466-4_482del GRCh37: Chr22:51065464-51065484 GRCh38: Chr22:50627036-50627056	ARSA		Metachromatic leukodystrophy	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 210156578.	NM_000487.6(ARSA):c.484A>G (p.Thr162Ala) GRCh37: Chr22:51065462 GRCh38: Chr22:50627034	ARSA	T162A, T76A	Metachromatic leukodystrophy	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209358779.	NM_000487.6(ARSA):c.574C>T (p.Gln192Ter) GRCh37: Chr22:51065372 GRCh38: Chr22:50626944	ARSA	Q106, Q192	Metachromatic leukodystrophy	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 208989180.	NM_000487.6(ARSA):c.465+10A>C GRCh37: Chr22:51065584 GRCh38: Chr22:50627156	ARSA		Metachromatic leukodystrophy	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 208656881.	NM_000487.6(ARSA):c.422del (p.Gln141fs) GRCh37: Chr22:51065637 GRCh38: Chr22:50627209	ARSA	Q55fs, Q141fs	Metachromatic leukodystrophy	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 208494582.	NM_000487.6(ARSA):c.388G>A (p.Val130Met) GRCh37: Chr22:51065671 GRCh38: Chr22:50627243	ARSA	V130M, V44M	Metachromatic leukodystrophy	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 208400983.	NM_000487.6(ARSA):c.980-21_980-20delinsCT GRCh37: Chr22:51064511-51064512 GRCh38: Chr22:50626083-50626084	ARSA		Metachromatic leukodystrophy	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 208139384.	NM_000487.6(ARSA):c.658C>A (p.Pro220Thr) GRCh37: Chr22:51065288 GRCh38: Chr22:50626860	ARSA	P134T, P220T	Metachromatic leukodystrophy	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 208090185.	NM_000487.6(ARSA):c.558C>A (p.Asn186Lys) GRCh37: Chr22:51065388 GRCh38: Chr22:50626960	ARSA	N100K, N186K	Metachromatic leukodystrophy	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 208084486.	NM_000487.6(ARSA):c.823G>A (p.Glu275Lys) GRCh37: Chr22:51065050 GRCh38: Chr22:50626622	ARSA	E275K, E189K	Metachromatic leukodystrophy	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 207891887.	NM_000487.6(ARSA):c.680C>T (p.Ser227Phe) GRCh37: Chr22:51065266 GRCh38: Chr22:50626838	ARSA	S141F, S227F	Metachromatic leukodystrophy	Likely pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 207060088.	NM_000487.6(ARSA):c.276C>A (p.Gly92=) GRCh37: Chr22:51065783 GRCh38: Chr22:50627355	ARSA		Metachromatic leukodystrophy	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 206919289.	NM_000487.6(ARSA):c.531C>A (p.Gly177=) GRCh37: Chr22:51065415 GRCh38: Chr22:50626987	ARSA		Metachromatic leukodystrophy	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 206852890.	NM_000487.6(ARSA):c.1492del (p.Arg498fs) GRCh37: Chr22:51063611 GRCh38: Chr22:50625183	ARSA	R412fs, R498fs	Metachromatic leukodystrophy	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 206191191.	NM_000487.6(ARSA):c.1370C>T (p.Ala457Val) GRCh37: Chr22:51063733 GRCh38: Chr22:50625305	ARSA	A371V, A457V	Metachromatic leukodystrophy	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 206043092.	NM_000487.6(ARSA):c.646C>T (p.Arg216Cys) GRCh37: Chr22:51065300 GRCh38: Chr22:50626872	ARSA	R130C, R216C	Inborn genetic diseases, Metachromatic leukodystrophy	Uncertain significance (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206030293.	NM_000487.6(ARSA):c.110_111insACTGGGCTGCTATGGGCA (p.Asp37delinsGluLeuGlyCysTyrGlyHis) GRCh37: Chr22:51066097-51066098 GRCh38: Chr22:50627669-50627670	ARSA		Metachromatic leukodystrophy	Pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 206025394.	NM_000487.6(ARSA):c.308C>G (p.Pro103Arg) GRCh37: Chr22:51065751 GRCh38: Chr22:50627323	ARSA	P103R, P17R	Metachromatic leukodystrophy	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 205508495.	NM_000487.6(ARSA):c.485C>G (p.Thr162Ser) GRCh37: Chr22:51065461 GRCh38: Chr22:50627033	ARSA	T162S, T76S	Metachromatic leukodystrophy	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 205260596.	NM_000487.6(ARSA):c.264C>G (p.Gly88=) GRCh37: Chr22:51065795 GRCh38: Chr22:50627367	ARSA		Metachromatic leukodystrophy	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 205036897.	NM_000487.6(ARSA):c.169G>A (p.Gly57Arg) GRCh37: Chr22:51066039 GRCh38: Chr22:50627611	ARSA	G57R	Metachromatic leukodystrophy	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 204900098.	NM_000487.6(ARSA):c.1330dup (p.Leu444fs) GRCh37: Chr22:51063772-51063773 GRCh38: Chr22:50625344-50625345	ARSA	L444fs, L358fs	Metachromatic leukodystrophy	Pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 204568599.	NM_000487.6(ARSA):c.823G>C (p.Glu275Gln) GRCh37: Chr22:51065050 GRCh38: Chr22:50626622	ARSA	E275Q, E189Q	Metachromatic leukodystrophy	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 2044918100.	NM_000487.6(ARSA):c.1030G>C (p.Ala344Pro) GRCh37: Chr22:51064441 GRCh38: Chr22:50626013	ARSA	A344P, A258P	Metachromatic leukodystrophy	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter

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