ClinVar for MedGen (Select 373113) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24227071.	NC_000022.10:g.(?_42456283)_(42463314_?)del GRCh37: Chr22:42456283-42463314	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 24227062.	NC_000022.10:g.(?_42461722)_(42464598_?)del GRCh37: Chr22:42461722-42464598	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 21942313.	NM_000262.3(NAGA):c.153-9C>T GRCh37: Chr22:42463949 GRCh38: Chr22:42067945	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 21930024.	NM_000262.3(NAGA):c.541C>T (p.Arg181Cys) GRCh37: Chr22:42462770 GRCh38: Chr22:42066766	LOC126863160, NAGA	R181C	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 21828795.	NM_000262.3(NAGA):c.819G>T (p.Trp273Cys) GRCh37: Chr22:42458969 GRCh38: Chr22:42062965	NAGA	W273C	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 21728056.	NM_000262.3(NAGA):c.1008C>T (p.Ser336=) GRCh37: Chr22:42457021 GRCh38: Chr22:42061017	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 21630397.	NM_000262.3(NAGA):c.702G>A (p.Glu234=) GRCh37: Chr22:42461799 GRCh38: Chr22:42065795	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 21629068.	NM_000262.3(NAGA):c.925C>T (p.Pro309Ser) GRCh37: Chr22:42458863 GRCh38: Chr22:42062859	NAGA	P309S	Alpha-N-acetylgalactosaminidase deficiency type 1, Inborn genetic diseases	Uncertain significance (Mar 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21625749.	NM_000262.3(NAGA):c.438C>T (p.Ala146=) GRCh37: Chr22:42463181 GRCh38: Chr22:42067177	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 215478810.	NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr) GRCh37: Chr22:42456311 GRCh38: Chr22:42060307	NAGA	I403T	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 214741411.	NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter) GRCh37: Chr22:42456378 GRCh38: Chr22:42060374	NAGA	R381*	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 214583712.	NM_000262.3(NAGA):c.730G>A (p.Gly244Ser) GRCh37: Chr22:42461771 GRCh38: Chr22:42065767	NAGA	G244S	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 211160713.	NM_000262.3(NAGA):c.759+17G>T GRCh37: Chr22:42461725 GRCh38: Chr22:42065721	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 210004114.	NM_000262.3(NAGA):c.498C>T (p.Ala166=) GRCh37: Chr22:42463121 GRCh38: Chr22:42067117	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 209715815.	NM_000262.3(NAGA):c.1197C>T (p.Tyr399=) GRCh37: Chr22:42456322 GRCh38: Chr22:42060318	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 208394616.	NM_000262.3(NAGA):c.256G>A (p.Asp86Asn) GRCh37: Chr22:42463837 GRCh38: Chr22:42067833	LOC126863160, NAGA	D86N	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 208117117.	NM_000262.3(NAGA):c.958-20T>G GRCh37: Chr22:42457091 GRCh38: Chr22:42061087	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 208014918.	NM_000262.3(NAGA):c.255C>T (p.Arg85=) GRCh37: Chr22:42463838 GRCh38: Chr22:42067834	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 207869519.	NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr) GRCh37: Chr22:42457020 GRCh38: Chr22:42061016	NAGA	A337T	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 207765620.	NM_000262.3(NAGA):c.760-17_760-15del GRCh37: Chr22:42459043-42459045 GRCh38: Chr22:42063039-42063041	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 205710821.	NM_000262.3(NAGA):c.563G>C (p.Ser188Thr) GRCh37: Chr22:42462748 GRCh38: Chr22:42066744	LOC126863160, NAGA	S188T	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 204461722.	NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser) GRCh37: Chr22:42456347 GRCh38: Chr22:42060343	NAGA	N391S	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 201597323.	NM_000262.3(NAGA):c.123C>G (p.Asn41Lys) GRCh37: Chr22:42464472 GRCh38: Chr22:42068468	LOC126863160, NAGA	N41K	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 199243124.	NM_000262.3(NAGA):c.91C>G (p.Leu31Val) GRCh37: Chr22:42464504 GRCh38: Chr22:42068500	LOC126863160, NAGA	L31V	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 199227525.	NM_000262.3(NAGA):c.295C>G (p.Pro99Ala) GRCh37: Chr22:42463798 GRCh38: Chr22:42067794	LOC126863160, NAGA	P99A	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 197072726.	NM_000262.3(NAGA):c.838C>G (p.Leu280Val) GRCh37: Chr22:42458950 GRCh38: Chr22:42062946	NAGA	L280V	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 197048527.	NM_000262.3(NAGA):c.760-5C>A GRCh37: Chr22:42459033 GRCh38: Chr22:42063029	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 194858728.	NM_000262.3(NAGA):c.17-5C>T GRCh37: Chr22:42464583 GRCh38: Chr22:42068579	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 194542829.	NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn) GRCh37: Chr22:42456993 GRCh38: Chr22:42060989	NAGA	D346N	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 194275830.	NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser) GRCh37: Chr22:42456963 GRCh38: Chr22:42060959	NAGA	G356S	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 192976531.	NM_000262.3(NAGA):c.17-4C>T GRCh37: Chr22:42464582 GRCh38: Chr22:42068578	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 191535032.	NM_000262.3(NAGA):c.491A>C (p.Glu164Ala) GRCh37: Chr22:42463128 GRCh38: Chr22:42067124	LOC126863160, NAGA	E164A	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 191149833.	NM_000262.3(NAGA):c.843G>A (p.Leu281=) GRCh37: Chr22:42458945 GRCh38: Chr22:42062941	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 171437134.	NM_000262.3(NAGA):c.337G>T (p.Gly113Cys) GRCh37: Chr22:42463282 GRCh38: Chr22:42067278	NAGA, LOC126863160	G113C	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 169377735.	NM_000262.3(NAGA):c.592C>T (p.Pro198Ser) GRCh37: Chr22:42462719 GRCh38: Chr22:42066715	LOC126863160, NAGA	P198S	not provided, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166509336.	NM_000262.3(NAGA):c.291C>T (p.Arg97=) GRCh37: Chr22:42463802 GRCh38: Chr22:42067798	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Dec 23, 2020)	criteria provided, single submitter
Select item 166120037.	NM_000262.3(NAGA):c.1102-14C>A GRCh37: Chr22:42456431 GRCh38: Chr22:42060427	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 165482138.	NM_000262.3(NAGA):c.483C>A (p.Thr161=) GRCh37: Chr22:42463136 GRCh38: Chr22:42067132	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Feb 14, 2021)	criteria provided, single submitter
Select item 163684139.	NM_000262.3(NAGA):c.438C>G (p.Ala146=) GRCh37: Chr22:42463181 GRCh38: Chr22:42067177	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 163395240.	NM_000262.3(NAGA):c.324+7C>T GRCh37: Chr22:42463762 GRCh38: Chr22:42067758	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 162900541.	NM_000262.3(NAGA):c.837C>G (p.Pro279=) GRCh37: Chr22:42458951 GRCh38: Chr22:42062947	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 162484042.	NM_000262.3(NAGA):c.1110C>T (p.Asp370=) GRCh37: Chr22:42456409 GRCh38: Chr22:42060405	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Jul 31, 2021)	criteria provided, single submitter
Select item 161819643.	NM_000262.3(NAGA):c.486C>T (p.Pro162=) GRCh37: Chr22:42463133 GRCh38: Chr22:42067129	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 157539344.	NM_000262.3(NAGA):c.573C>T (p.Ala191=) GRCh37: Chr22:42462738 GRCh38: Chr22:42066734	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 156033845.	NM_000262.3(NAGA):c.17-13C>T GRCh37: Chr22:42464591 GRCh38: Chr22:42068587	NAGA, LOC126863160		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 153586446.	NM_000262.3(NAGA):c.597+18dup GRCh37: Chr22:42462695-42462696 GRCh38: Chr22:42066691-42066692	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Benign (Oct 10, 2022)	criteria provided, single submitter
Select item 150423347.	NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr) GRCh37: Chr22:42456347 GRCh38: Chr22:42060343	NAGA	N391T	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 148005348.	NM_000262.3(NAGA):c.542G>A (p.Arg181His) GRCh37: Chr22:42462769 GRCh38: Chr22:42066765	LOC126863160, NAGA	R181H	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 144796649.	NM_000262.3(NAGA):c.802G>A (p.Ala268Thr) GRCh37: Chr22:42458986 GRCh38: Chr22:42062982	NAGA	A268T	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 141327250.	NM_000262.3(NAGA):c.289C>G (p.Arg97Gly) GRCh37: Chr22:42463804 GRCh38: Chr22:42067800	LOC126863160, NAGA	R97G	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 139424251.	NM_000262.3(NAGA):c.871G>A (p.Ala291Thr) GRCh37: Chr22:42458917 GRCh38: Chr22:42062913	NAGA	A291T	Alpha-N-acetylgalactosaminidase deficiency type 1, Inborn genetic diseases	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138964052.	NM_000262.3(NAGA):c.822G>A (p.Thr274=) GRCh37: Chr22:42458966 GRCh38: Chr22:42062962	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 138956053.	NM_000262.3(NAGA):c.646G>A (p.Asp216Asn) GRCh37: Chr22:42461855 GRCh38: Chr22:42065851	NAGA	D216N	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 138204754.	NM_000262.3(NAGA):c.1085G>A (p.Gly362Glu) GRCh37: Chr22:42456944 GRCh38: Chr22:42060940	NAGA	G362E	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 136929955.	NM_000262.3(NAGA):c.1111G>A (p.Val371Ile) GRCh37: Chr22:42456408 GRCh38: Chr22:42060404	NAGA	V371I	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 135001656.	NM_000262.3(NAGA):c.365T>C (p.Met122Thr) GRCh37: Chr22:42463254 GRCh38: Chr22:42067250	LOC126863160, NAGA	M122T	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 116545657.	NM_000262.3(NAGA):c.838C>A (p.Leu280Ile) GRCh37: Chr22:42458950 GRCh38: Chr22:42062946	NAGA	L280I	Alpha-N-acetylgalactosaminidase deficiency type 1	Benign (Apr 26, 2022)	criteria provided, single submitter
Select item 116116258.	NM_000262.3(NAGA):c.759+10T>G GRCh37: Chr22:42461732 GRCh38: Chr22:42065728	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Sep 24, 2020)	criteria provided, single submitter
Select item 110855659.	NM_000262.3(NAGA):c.598-9G>A GRCh37: Chr22:42461912 GRCh38: Chr22:42065908	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 104324760.	NM_000262.3(NAGA):c.230T>C (p.Ile77Thr) GRCh37: Chr22:42463863 GRCh38: Chr22:42067859	LOC126863160, NAGA	I77T	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 101671461.	NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs) GRCh37: Chr22:42456294-42456295 GRCh38: Chr22:42060290-42060291	NAGA	S409fs	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 100098762.	NM_000262.3(NAGA):c.104G>A (p.Arg35His) GRCh37: Chr22:42464491 GRCh38: Chr22:42068487	LOC126863160, NAGA	R35H	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 94718763.	NM_000262.3(NAGA):c.443G>A (p.Trp148Ter) GRCh37: Chr22:42463176 GRCh38: Chr22:42067172	NAGA, LOC126863160	W148*	Alpha-N-acetylgalactosaminidase deficiency type 1	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 93212264.	NM_000262.3(NAGA):c.759+1_759+8del GRCh37: Chr22:42461734-42461741 GRCh38: Chr22:42065730-42065737	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2	Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90316765.	NM_000262.3(NAGA):c.12G>A (p.Lys4=) GRCh37: Chr22:42466290 GRCh38: Chr22:42070286	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90299966.	NM_000262.3(NAGA):c.697G>A (p.Val233Met) GRCh37: Chr22:42461804 GRCh38: Chr22:42065800	NAGA	V233M	Alpha-N-acetylgalactosaminidase deficiency type 2, Inborn genetic diseases, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90287667.	NM_000262.3(NAGA):c.*1724C>G GRCh37: Chr22:42454559 GRCh38: Chr22:42058555	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90205468.	NM_000262.3(NAGA):c.*572G>A GRCh37: Chr22:42455711 GRCh38: Chr22:42059707	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90205369.	NM_000262.3(NAGA):c.*730T>C GRCh37: Chr22:42455553 GRCh38: Chr22:42059549	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90197570.	NM_000262.3(NAGA):c.*1862C>A GRCh37: Chr22:42454421 GRCh38: Chr22:42058417	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90197471.	NM_000262.3(NAGA):c.*1930G>A GRCh37: Chr22:42454353 GRCh38: Chr22:42058349	NAGA, WBP2NL		Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90148372.	NM_000262.3(NAGA):c.*1103T>C GRCh37: Chr22:42455180 GRCh38: Chr22:42059176	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90050473.	NM_000262.3(NAGA):c.324C>T (p.Tyr108=) GRCh37: Chr22:42463769 GRCh38: Chr22:42067765	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90044674.	NM_000262.3(NAGA):c.*55C>T GRCh37: Chr22:42456228 GRCh38: Chr22:42060224	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90038675.	NM_000262.3(NAGA):c.*107G>A GRCh37: Chr22:42456176 GRCh38: Chr22:42060172	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90038576.	NM_000262.3(NAGA):c.*170G>A GRCh37: Chr22:42456113 GRCh38: Chr22:42060109	NAGA		not provided, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Benign/Likely benign (Feb 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90032777.	NM_000262.3(NAGA):c.*1311T>C GRCh37: Chr22:42454972 GRCh38: Chr22:42058968	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90032678.	NM_000262.3(NAGA):c.*1484A>G GRCh37: Chr22:42454799 GRCh38: Chr22:42058795	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90032579.	NM_000262.3(NAGA):c.*1555C>T GRCh37: Chr22:42454728 GRCh38: Chr22:42058724	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89954980.	NM_000262.3(NAGA):c.-394A>G GRCh37: Chr22:42466695 GRCh38: Chr22:42070691	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89938381.	NM_000262.3(NAGA):c.486C>G (p.Pro162=) GRCh37: Chr22:42463133 GRCh38: Chr22:42067129	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89938282.	NM_000262.3(NAGA):c.493C>T (p.Arg165Trp) GRCh37: Chr22:42463126 GRCh38: Chr22:42067122	LOC126863160, NAGA	R165W	Alpha-N-acetylgalactosaminidase deficiency type 1, not provided, Alpha-N-acetylgalactosaminidase deficiency type 2	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89938183.	NM_000262.3(NAGA):c.582C>T (p.Gly194=) GRCh37: Chr22:42462729 GRCh38: Chr22:42066725	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 84024984.	NM_000262.3(NAGA):c.833C>T (p.Ala278Val) GRCh37: Chr22:42458955 GRCh38: Chr22:42062951	NAGA	A278V	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 79861385.	NM_000262.3(NAGA):c.132G>A (p.Glu44=) GRCh37: Chr22:42464463 GRCh38: Chr22:42068459	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 78207286.	NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) GRCh37: Chr22:42463137 GRCh38: Chr22:42067133	LOC126863160, NAGA	T161I	Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, not provided	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 74129787.	NM_000262.3(NAGA):c.502+9C>T GRCh37: Chr22:42463108 GRCh38: Chr22:42067104	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 73882888.	NM_000262.3(NAGA):c.618G>A (p.Ala206=) GRCh37: Chr22:42461883 GRCh38: Chr22:42065879	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 73187189.	NM_000262.3(NAGA):c.598-10C>T GRCh37: Chr22:42461913 GRCh38: Chr22:42065909	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 72818790.	NM_000262.3(NAGA):c.837C>A (p.Pro279=) GRCh37: Chr22:42458951 GRCh38: Chr22:42062947	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 72565591.	NM_000262.3(NAGA):c.787T>A (p.Leu263Ile) GRCh37: Chr22:42459001 GRCh38: Chr22:42062997	NAGA	L263I	Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 72486192.	NM_000262.3(NAGA):c.360G>A (p.Ala120=) GRCh37: Chr22:42463259 GRCh38: Chr22:42067255	LOC126863160, NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 72446493.	NM_000262.3(NAGA):c.903C>T (p.Leu301=) GRCh37: Chr22:42458885 GRCh38: Chr22:42062881	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 72195994.	NM_000262.3(NAGA):c.957+7G>A GRCh37: Chr22:42458824 GRCh38: Chr22:42062820	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 71961095.	NM_000262.3(NAGA):c.1209C>T (p.Ile403=) GRCh37: Chr22:42456310 GRCh38: Chr22:42060306	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1	Conflicting interpretations of pathogenicity (Sep 10, 2018)	criteria provided, conflicting interpretations
Select item 71776196.	NM_000262.3(NAGA):c.1146T>C (p.Asp382=) GRCh37: Chr22:42456373 GRCh38: Chr22:42060369	NAGA		Alpha-N-acetylgalactosaminidase deficiency type 1	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 66031997.	NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) GRCh37: Chr22:42463132 GRCh38: Chr22:42067128	LOC126863160, NAGA	E163K	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 65801698.	NM_000262.3(NAGA):c.406G>C (p.Asp136His) GRCh37: Chr22:42463213 GRCh38: Chr22:42067209	LOC126863160, NAGA	D136H	Alpha-N-acetylgalactosaminidase deficiency type 1, Inborn genetic diseases	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64374799.	NM_000262.3(NAGA):c.16G>A (p.Val6Met) GRCh37: Chr22:42466286 GRCh38: Chr22:42070282	NAGA	V6M	Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 596276100.	NM_000262.3(NAGA):c.983T>C (p.Met328Thr) GRCh37: Chr22:42457046 GRCh38: Chr22:42061042	NAGA	M328T	Inborn genetic diseases, not provided, Alpha-N-acetylgalactosaminidase deficiency type 1	Uncertain significance (May 5, 2023)	criteria provided, multiple submitters, no conflicts

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