Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)	SNV Germline	Chr16:88836222	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter	CA251563	rs_118204435	3 SubmittersRCV000000733
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	SNV Germline	Chr16:88824853	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Condition: not provided Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA221040	rs_118204437	14 SubmittersRCV000000735 RCV000079019 RCV000781397
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)	SNV Germline	Chr16:88818029	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA251565	rs_118204440	3 SubmittersRCV000000736
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)	SNV Germline	Chr16:88841077	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339830	rs_118204438	8 SubmittersRCV000000738 RCV000295527 RCV000723431
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)	SNV Germline	Chr16:88818072	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA251566	rs_118204439	3 SubmittersRCV000000739
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)	SNV Germline	Chr16:88841936	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter	CA251568	rs_118204441	2 SubmittersRCV000000740
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)	SNV Germline	Chr16:88835335	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA251569	rs_118204442	5 SubmittersRCV000000741
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)	SNV Germline	Chr16:88835240	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA251570	rs_118204448	7 SubmittersRCV000000742 RCV003234884
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)	SNV Germline	Chr16:88832099	Pathogenic	Mucopolysaccharidosis, MPS-IV-A Condition: not provided Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA221063	rs_118204443	9 SubmittersRCV000000743 RCV000790840 RCV000781400
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)	SNV Germline	Chr16:88837703	Pathogenic	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251571	rs_118204444	5 SubmittersRCV000000744 RCV000723452
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)	SNV Germline	Chr16:88835794	Pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA251573	rs_118204449	4 SubmittersRCV000000746 RCV001193132
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)	SNV Germline	Chr16:88832065	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA339831	rs_118204446	6 SubmittersRCV000000748 RCV001193737
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)	SNV Germline	Chr16:88842772	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA251575	rs_118204447	4 SubmittersRCV000000749
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	SNV Germline	Chr16:88826822	Pathogenic/Likely pathogenic	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA251576	rs_267606838	7 SubmittersRCV003155036 RCV000000750
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)	SNV Germline	Chr16:88824838	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA221041	rs_398123429	5 SubmittersRCV000174006 RCV001389836 RCV001201184
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)	SNV Germline	Chr16:88824834	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA221042	rs_398123430	8 SubmittersRCV000174007 RCV001578422
NM_000512.5(GALNS):c.1176G>A (p.Ala392=)	SNV Germline	Chr16:88824833	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA221043	rs_398123431	2 SubmittersRCV000079022 RCV002515757
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)	SNV Germline	Chr16:88822599	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA221045	rs_398123432	4 SubmittersRCV000079024 RCV001578612
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)	SNV Germline	Chr16:88814450	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA221047	rs_398123434	4 SubmittersRCV000079028 RCV001578461
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)	SNV Germline	Chr16:88814449	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA221049	rs_372893383	5 SubmittersRCV000174686 RCV001578462 RCV002509202
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)	SNV Germline	Chr16:88842732	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA221051	rs_398123435	4 SubmittersRCV000079031 RCV001578486
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)	SNV Germline	Chr16:88841971	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications	CA221053	rs_371429653	7 SubmittersRCV000079033 RCV001352891 RCV002271402
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)	SNV Germline	Chr16:88837725	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Skeletal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA221057	rs_398123438	8 SubmittersRCV000178783 RCV001578563 RCV002272058
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)	SNV Germline	Chr16:88837711	Pathogenic	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA221058	rs_398123439	6 SubmittersRCV000178782 RCV000790674
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)	SNV Germline	Chr16:88835779	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA221060	rs_398123440	4 SubmittersRCV000179764 RCV001578303
NM_000512.5(GALNS):c.707A>G (p.His236Arg)	SNV Germline	Chr16:88835776	Conflicting classifications of pathogenicity	Condition: not provided not specified Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA221061	rs_398123441	4 SubmittersRCV000079043 RCV001731366 RCV001578306
NM_000512.5(GALNS):c.281G>A (p.Arg94His)	SNV Germline	Chr16:88841935	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications	CA234076	rs_727503946	5 SubmittersRCV000153304 RCV001294423 RCV003155092
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)	SNV Germline	Chr16:88837646	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA274846	rs_786205899	3 SubmittersRCV000172874
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)	SNV Germline	Chr16:88826714	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A not specified	Criteria Provided Conflicting Classifications	CA239140	rs_150734270	7 SubmittersRCV000173702 RCV000697370 RCV001844067
NM_000512.5(GALNS):c.319+15G>T	SNV Germline	Chr16:88841882	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA243181	rs_777179922	2 SubmittersRCV000177076 RCV002054086
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)	SNV Germline	Chr16:88840993	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA275246	rs_794727625	4 SubmittersRCV000178107 RCV000282371
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)	SNV Germline	Chr16:88835743	Conflicting classifications of pathogenicity	Condition: not provided Morquio syndrome Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA247067	rs_761385192	6 SubmittersRCV000298139 RCV000826109 RCV001544508
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)	SNV Germline	Chr16:88835818	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA247068	rs_140162658	4 SubmittersRCV000179765 RCV000310050
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)	SNV Germline	Chr16:88832047	Pathogenic	Condition: not provided Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA275446	rs_746756997	6 SubmittersRCV000180514 RCV000624404 RCV001389837 RCV001193735
NM_000512.5(GALNS):c.898+1G>C	SNV Germline	Chr16:88835212	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA357205	rs_761850746	3 SubmittersRCV000210353
NM_000512.5(GALNS):c.858G>A (p.Thr286=)	SNV Germline	Chr16:88835253	Conflicting classifications of pathogenicity	not specified Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8234956	rs_140299014	4 SubmittersRCV000249866 RCV000973824
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)	SNV Germline	Chr16:88814523	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA10588631	rs_886039377	4 SubmittersRCV000254830 RCV001578441
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)	SNV Germline	Chr16:88835251	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8234955	rs_770053354	12 SubmittersRCV000255770 RCV000701162 RCV004017572
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)	SNV Germline	Chr16:88840999	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8235170	rs_146093755	8 SubmittersRCV000254865 RCV000691262 RCV003230469
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys)	SNV Germline	Chr16:88836265	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA10603754	rs_886042058	2 SubmittersRCV000286677 RCV003883147
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)	SNV Germline	Chr16:88842811	Pathogenic/Likely pathogenic	Condition: not provided Morquio syndrome Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA8235279	rs_199638097	7 SubmittersRCV000274769 RCV001193130 RCV000818831
NM_000512.5(GALNS):c.1113C>T (p.Thr371=)	SNV Germline	Chr16:88826728	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA10604338	rs_375098009	2 SubmittersRCV000389919 RCV003765598
NM_000512.5(GALNS):c.899-6T>C	SNV Germline	Chr16:88832107	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8234914	rs_374850312	2 SubmittersRCV000307021 RCV002059155
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)	SNV Germline	Chr16:88837737	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8235133	rs_781439830	4 SubmittersRCV000374370 RCV003323515
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)	SNV Germline	Chr16:88822706	Conflicting classifications of pathogenicity	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8234741	rs_142822371	6 SubmittersRCV000331371 RCV000894656 RCV003480600 RCV003235192
NM_000512.5(GALNS):c.921G>T (p.Leu307=)	SNV Germline	Chr16:88832079	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A GALNS-related disorder	Criteria Provided Conflicting Classifications	CA8234901	rs_201986622	4 SubmittersRCV000960515 RCV003940262
NM_000512.5(GALNS):c.121-4G>A	SNV Germline	Chr16:88842833	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A GALNS-related disorder	Criteria Provided Conflicting Classifications	CA8235281	rs_200008960	4 SubmittersRCV000294355 RCV003950092
NM_000512.5(GALNS):c.*3C>G	SNV Germline	Chr16:88814436	Conflicting classifications of pathogenicity	Morquio syndrome Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8234632	rs_77826920	6 SubmittersRCV000401004 RCV000675525 RCV001117490
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)	SNV Germline	Chr16:88826770	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8234832	rs_374619390	3 SubmittersRCV000974782
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)	SNV Germline	Chr16:88831999	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Conflicting Classifications	CA8234879	rs_138555898	3 SubmittersRCV000280847 RCV000675534
NM_000512.5(GALNS):c.633+13G>C	SNV Germline	Chr16:88836188	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8235072	rs_200292757	2 SubmittersRCV000362450
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)	SNV Germline	Chr16:88837689	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8235120	rs_148565559	6 SubmittersRCV000322011 RCV002254293 RCV003987507
NM_000512.5(GALNS):c.*236C>T	SNV Germline	Chr16:88814203	Conflicting classifications of pathogenicity	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Conflicting Classifications	CA10649279	rs_189375208	3 SubmittersRCV000290934 RCV001116032 RCV002254921
NM_000512.5(GALNS):c.1242+3A>G	SNV Germline	Chr16:88824764	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A not specified	Criteria Provided Conflicting Classifications	CA8234771	rs_377067312	3 SubmittersRCV000272920 RCV003155160
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)	SNV Germline	Chr16:88824823	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Conflicting Classifications	CA8234779	rs_371459975	4 SubmittersRCV000326460 RCV000490121
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)	SNV Germline	Chr16:88826833	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA10649288	rs_886052456	2 SubmittersRCV000320594
NM_000512.5(GALNS):c.1003-10T>C	SNV Germline	Chr16:88826848	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8234844	rs_753249472	2 SubmittersRCV000377728
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)	SNV Germline	Chr16:88835261	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications	CA8234959	rs_144067930	6 SubmittersRCV000614681 RCV000844697
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)	SNV Germline	Chr16:88832089	Conflicting classifications of pathogenicity	not specified Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8234906	rs_758439379	4 SubmittersRCV000413811 RCV001578589
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)	SNV Germline	Chr16:88835240	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications	CA16607530	rs_118204448	5 SubmittersRCV000420010 RCV001578578 RCV004526672
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)	SNV Germline	Chr16:88836223	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Skeletal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA8235078	rs_569725936	5 SubmittersRCV000431100 RCV001861541 RCV002272233
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)	SNV Germline	Chr16:88842769	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8235266	rs_145798311	9 SubmittersRCV000420201 RCV000633462 RCV002230025
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)	SNV Germline	Chr16:88841055	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8235187	rs_112454391	3 SubmittersRCV000534418
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)	SNV Germline	Chr16:88835227	Pathogenic/Likely pathogenic	Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA8234948	rs_149239881	4 SubmittersRCV000623443 RCV001235768
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)	SNV Germline	Chr16:88841948	Pathogenic	Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA286406375	rs_1028668536	7 SubmittersRCV000624508 RCV000763388 RCV003128664
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)	SNV Germline	Chr16:88842711	Pathogenic/Likely pathogenic	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A GALNS-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397091149	rs_1209154325	7 SubmittersRCV001193736 RCV001578493 RCV003420080 RCV000622775
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)	SNV Germline	Chr16:88842828	Conflicting classifications of pathogenicity	Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA397092190	rs_1555523411	3 SubmittersRCV000624617 RCV001578482
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)	SNV Unknown	Chr16:88814506	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter	CA286432122	rs_948490589	1 SubmittersRCV000625916
NM_000512.5(GALNS):c.952A>G (p.Met318Val)	SNV Germline	Chr16:88832048	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter	CA397101204	rs_537013895	1 SubmittersRCV000626204
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)	SNV Germline	Chr16:88824845	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications	CA8234784	rs_752339162	3 SubmittersRCV000633460
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	SNV Germline	Chr16:88856771	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA8235396	rs_755832705	4 SubmittersRCV000633458
NM_000512.5(GALNS):c.898+1G>A	SNV Germline	Chr16:88835212	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA8234943	rs_761850746	3 SubmittersRCV000633461
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)	SNV Germline	Chr16:88837686	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts	CA8235119	rs_775732598	4 SubmittersRCV000633457
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)	SNV Germline	Chr16:88837722	Pathogenic/Likely pathogenic	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397083329	rs_1308500116	5 SubmittersRCV002222567 RCV000633459 RCV003151799
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)	SNV Germline	Chr16:88835842	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_771810111	3 SubmittersRCV000690528
NM_000512.5(GALNS):c.121-2A>G	SNV Germline	Chr16:88842831	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1567538216	3 SubmittersRCV000693803
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)	SNV Germline	Chr16:88841083	Pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_200374326	4 SubmittersRCV000690516 RCV001193733
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)	SNV Germline	Chr16:88832000	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1567526805	3 SubmittersRCV000760156
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)	SNV Germline	Chr16:88837721	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1301146300	4 SubmittersRCV000761302
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)	SNV Germline	Chr16:88835254	Conflicting classifications of pathogenicity	not specified Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_137927658	4 SubmittersRCV000781396 RCV000890160
NM_000512.5(GALNS):c.899-2A>G	SNV Germline	Chr16:88832103	Likely pathogenic	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1165218506	2 SubmittersRCV000781398 RCV001578586
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)	SNV Germline	Chr16:88824790	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Conflicting Classifications		rs_749578474	5 SubmittersRCV000784908 RCV001759478
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)	SNV Germline	Chr16:88841936	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_118204441	5 SubmittersRCV000806517
NM_000512.5(GALNS):c.1364+1G>A	SNV Germline	Chr16:88822588	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_773746427	3 SubmittersRCV000799902
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)	SNV Germline	Chr16:88841090	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A GALNS-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_150582627	5 SubmittersRCV000954755 RCV003935838 RCV003334031
NM_000512.5(GALNS):c.303C>T (p.Asn101=)	SNV Germline	Chr16:88841913	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_79146426	3 SubmittersRCV000895224
NM_000512.5(GALNS):c.771C>T (p.Ala257=)	SNV Germline	Chr16:88835340	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_370586494	4 SubmittersRCV000917491 RCV001119182
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	SNV Germline	Chr16:88818015	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications		rs_760300454	7 SubmittersRCV000985198 RCV004017767
NM_000512.5(GALNS):c.423-862C>T	SNV Germline	Chr16:88838627	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1597575641	2 SubmittersRCV000985199
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)	SNV Germline	Chr16:88814515	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1597515555	3 SubmittersRCV000989651
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)	SNV Germline	Chr16:88837697	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_761725425	5 SubmittersRCV000989653
NM_000512.5(GALNS):c.425A>T (p.His142Leu)	SNV Germline	Chr16:88837763	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1288895691	2 SubmittersRCV001037304
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)	SNV Germline	Chr16:88842720	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1422505598	7 SubmittersRCV001062057 RCV003235459
NM_000512.5(GALNS):c.118G>C (p.Asp40His)	SNV Germline	Chr16:88856760	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1967935603	1 SubmittersRCV001051437
NM_000512.5(GALNS):c.120+1G>C	SNV Germline	Chr16:88856757	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_911877265	4 SubmittersRCV001051438
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)	SNV Germline	Chr16:88856762	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1967935882	2 SubmittersRCV001090039
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)	SNV Germline	Chr16:88826792	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1910973930	2 SubmittersRCV001093709
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	SNV Germline	Chr16:88837736	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_559063128	6 SubmittersRCV001093710
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)	SNV Germline	Chr16:88835347	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1912009292	1 SubmittersRCV001093711
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)	SNV Germline	Chr16:88842715	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1478665723	5 SubmittersRCV001093713
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)	SNV Germline	Chr16:88841040	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_746949976	4 SubmittersRCV001095388
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)	SNV Germline	Chr16:88818079	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_763263800	2 SubmittersRCV001119087
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)	SNV Germline	Chr16:88822684	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_148709901	2 SubmittersRCV001121050
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)	SNV Germline	Chr16:88826733	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_749891007	4 SubmittersRCV001116143
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)	SNV Germline	Chr16:88826782	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_768334388	2 SubmittersRCV001116147
NM_000512.5(GALNS):c.993T>C (p.Thr331=)	SNV Germline	Chr16:88832007	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_762154863	2 SubmittersRCV001117579
NM_000512.5(GALNS):c.256C>T (p.Leu86=)	SNV Germline	Chr16:88841960	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_190707335	2 SubmittersRCV001121176
NM_000512.5(GALNS):c.1140-15C>T	SNV Germline	Chr16:88824884	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1910644710	2 SubmittersRCV001121051
NM_000512.5(GALNS):c.121-7C>G	SNV Germline	Chr16:88842836	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1004936255	2 SubmittersRCV001172401
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)	SNV Germline	Chr16:88841068	Pathogenic	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A GALNS-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1444754604	5 SubmittersRCV001193131 RCV001578373 RCV003908434
NM_000512.5(GALNS):c.1139+1G>A	SNV Germline	Chr16:88826701	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_765608680	3 SubmittersRCV001207376
NM_000512.5(GALNS):c.899-2A>C	SNV Germline	Chr16:88832103	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1165218506	2 SubmittersRCV001214626
NM_000512.5(GALNS):c.498C>G (p.His166Gln)	SNV Germline	Chr16:88837690	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications		rs_1301198698	4 SubmittersRCV001250221 RCV003387984
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)	SNV Germline	Chr16:88835726	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_775300515	3 SubmittersRCV001298369
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)	SNV Germline	Chr16:88835783	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_368603508	3 SubmittersRCV001319632
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)	SNV Germline	Chr16:88836232	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Hereditary factor VIII deficiency disease Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_772413313	4 SubmittersRCV001321220 RCV004545202 RCV004526837 RCV004579572
NM_000512.5(GALNS):c.1365-1G>C	SNV Germline	Chr16:88818125	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1909832718	2 SubmittersRCV001332505
NM_000512.5(GALNS):c.320-1G>C	SNV Germline	Chr16:88841095	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1245504167	2 SubmittersRCV001783343
NM_000512.5(GALNS):c.986A>C (p.His329Pro)	SNV Germline	Chr16:88832014	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications		rs_760892654	6 SubmittersRCV001349762 RCV003490214
NM_000512.5(GALNS):c.425A>G (p.His142Arg)	SNV Germline	Chr16:88837763	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Conflicting Classifications		rs_1288895691	4 SubmittersRCV001349763 RCV001531861
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp)	SNV Germline	Chr16:88814440	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2142966615	2 SubmittersRCV001578466
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)	SNV Germline	Chr16:88814441	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1348149236	2 SubmittersRCV001578464
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)	SNV Germline	Chr16:88814489	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1567509070	3 SubmittersRCV001543345
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)	SNV Germline	Chr16:88814506	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_948490589	4 SubmittersRCV001578446
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)	SNV Germline	Chr16:88814510	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1303492021	2 SubmittersRCV001578444
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)	SNV Germline	Chr16:88814525	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1404888504	4 SubmittersRCV001562127 RCV001578440
NM_000512.5(GALNS):c.1483-1G>C	SNV Germline	Chr16:88814526	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1223848239	1 SubmittersRCV001578438
NM_000512.5(GALNS):c.1483-1G>A	SNV Germline	Chr16:88814526	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1223848239	1 SubmittersRCV001578439
NM_000512.5(GALNS):c.1483-2A>G	SNV Germline	Chr16:88814527	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142967340	1 SubmittersRCV001578437
NM_000512.5(GALNS):c.1483-15A>G	SNV Germline	Chr16:88814540	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1461992033	3 SubmittersRCV001578436
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)	SNV Germline	Chr16:88818009	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1401175486	3 SubmittersRCV001384759
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)	SNV Germline	Chr16:88818039	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1204485789	2 SubmittersRCV001578343
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)	SNV Germline	Chr16:88818042	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142982313	1 SubmittersRCV001578342
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter)	SNV Germline	Chr16:88818069	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1330564240	1 SubmittersRCV001578339
NM_000512.5(GALNS):c.1365-1G>A	SNV Germline	Chr16:88818125	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1909832718	1 SubmittersRCV001578617
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)	SNV Germline	Chr16:88822599	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications		rs_398123432	2 SubmittersRCV001578613 RCV004526842
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)	SNV Germline	Chr16:88822689	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1295162107	3 SubmittersRCV001578605
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	SNV Germline	Chr16:88822694	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_752937387	5 SubmittersRCV001578458
NM_000512.5(GALNS):c.1243-1G>C	SNV Germline	Chr16:88822711	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1597535277	1 SubmittersRCV001578454
NM_000512.5(GALNS):c.1243-1G>A	SNV Germline	Chr16:88822711	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1597535277	1 SubmittersRCV001578453
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)	SNV Germline	Chr16:88824769	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_757870208	6 SubmittersRCV001358674
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)	SNV Germline	Chr16:88824794	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142993793	1 SubmittersRCV001578449
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter)	SNV Germline	Chr16:88824795	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142993795	1 SubmittersRCV001578448
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)	SNV Germline	Chr16:88824813	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1267791852	3 SubmittersRCV001578431
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)	SNV Germline	Chr16:88824840	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2142993863	2 SubmittersRCV001578337
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)	SNV Germline	Chr16:88824847	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_373739301	3 SubmittersRCV001578336
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)	SNV Germline	Chr16:88824852	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications		rs_1221167717	3 SubmittersRCV001578334 RCV002469379
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)	SNV Germline	Chr16:88824854	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1426905479	2 SubmittersRCV001578332
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)	SNV Germline	Chr16:88824867	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2142993896	2 SubmittersRCV001578331
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly)	SNV Germline	Chr16:88826703	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_770908172	2 SubmittersRCV001578327
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter)	SNV Germline	Chr16:88826721	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_761455237	1 SubmittersRCV001578602
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)	SNV Germline	Chr16:88826818	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142995871	1 SubmittersRCV001578537
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)	SNV Germline	Chr16:88826829	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_767131589	3 SubmittersRCV001358675
NM_000512.5(GALNS):c.1003-2A>C	SNV Germline	Chr16:88826840	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1344555845	1 SubmittersRCV001578535
NM_000512.5(GALNS):c.1003-3C>G	SNV Germline	Chr16:88826841	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications		rs_760239741	4 SubmittersRCV001578534 RCV003331132
NM_000512.5(GALNS):c.1002+307G>C	SNV Germline	Chr16:88831691	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_866140272	2 SubmittersRCV001572328 RCV001578533
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter)	SNV Germline	Chr16:88832022	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1911558912	1 SubmittersRCV001578420
NM_000512.5(GALNS):c.974G>A (p.Trp325Ter)	SNV Germline	Chr16:88832026	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142999142	1 SubmittersRCV001578416
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)	SNV Germline	Chr16:88832051	Conflicting classifications of pathogenicity	Abnormality of metabolism/homeostasis Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_556060696	3 SubmittersRCV001814310 RCV001578410
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg)	SNV Germline	Chr16:88832051	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_556060696	3 SubmittersRCV001555291 RCV001578409
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)	SNV Germline	Chr16:88832062	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Conflicting Classifications		rs_894525161	7 SubmittersRCV001578324 RCV003331131
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser)	SNV Germline	Chr16:88832066	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2142999186	2 SubmittersRCV001578322
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala)	SNV Germline	Chr16:88832066	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142999186	1 SubmittersRCV001578321
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)	SNV Germline	Chr16:88832080	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2142999202	3 SubmittersRCV001368742
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys)	SNV Germline	Chr16:88832083	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_759590432	2 SubmittersRCV001578317
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)	SNV Germline	Chr16:88832084	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Condition: not provided Morquio syndrome	Criteria Provided Conflicting Classifications		rs_2142999207	4 SubmittersRCV001578315 RCV001531860 RCV002242515
NM_000512.5(GALNS):c.899-1G>C	SNV Germline	Chr16:88832102	Pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_745523154	3 SubmittersRCV001578585 RCV002509670
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter)	SNV Germline	Chr16:88835216	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143001103	1 SubmittersRCV001578582
NM_000512.5(GALNS):c.887C>T (p.Ala296Val)	SNV Germline	Chr16:88835224	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_200371805	2 SubmittersRCV001578581
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)	SNV Germline	Chr16:88835243	Pathogenic/Likely pathogenic	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_975409254	3 SubmittersRCV002271645 RCV001578530
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)	SNV Germline	Chr16:88835245	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A not specified	Criteria Provided Conflicting Classifications		rs_1465096387	3 SubmittersRCV001578528 RCV003987849
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)	SNV Germline	Chr16:88835287	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A not specified	Criteria Provided Conflicting Classifications		rs_2143001162	3 SubmittersRCV001578522 RCV003399148
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter)	SNV Germline	Chr16:88835349	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_770815269	1 SubmittersRCV001578400
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys)	SNV Germline	Chr16:88835350	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143001210	2 SubmittersRCV001578399
NM_000512.5(GALNS):c.759-2A>G	SNV Germline	Chr16:88835354	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143001213	1 SubmittersRCV001578398
NM_000512.5(GALNS):c.759-67G>A	SNV Germline	Chr16:88835419	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_565875595	2 SubmittersRCV001513402
NM_000512.5(GALNS):c.758+1G>C	SNV Germline	Chr16:88835724	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1363382746	1 SubmittersRCV001578395
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)	SNV Germline	Chr16:88835731	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1199639828	3 SubmittersRCV001578313
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)	SNV Germline	Chr16:88835732	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1275386976	4 SubmittersRCV001389838
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)	SNV Germline	Chr16:88835758	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143001380	2 SubmittersRCV001578312
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)	SNV Germline	Chr16:88835764	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_752039956	4 SubmittersRCV001578310
NM_000512.5(GALNS):c.715G>T (p.Val239Phe)	SNV Germline	Chr16:88835768	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_145131011	2 SubmittersRCV001578309
NM_000512.5(GALNS):c.707A>C (p.His236Pro)	SNV Germline	Chr16:88835776	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_398123441	1 SubmittersRCV001578307
NM_000512.5(GALNS):c.706C>T (p.His236Tyr)	SNV Germline	Chr16:88835777	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1228027865	1 SubmittersRCV001578305
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)	SNV Germline	Chr16:88835786	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_753051547	5 SubmittersRCV001578302 RCV004017823
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter)	SNV Germline	Chr16:88835825	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1456807949	1 SubmittersRCV001578573
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	SNV Germline	Chr16:88835836	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_747805226	4 SubmittersRCV001578571
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)	SNV Germline	Chr16:88835845	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_770239604	2 SubmittersRCV001578570
NM_000512.5(GALNS):c.634-1G>T	SNV Germline	Chr16:88835850	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143001463	1 SubmittersRCV001578569
NM_000512.5(GALNS):c.634-1G>A	SNV Germline	Chr16:88835850	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143001463	1 SubmittersRCV001578568
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter)	SNV Germline	Chr16:88836203	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1912124497	2 SubmittersRCV001578567
NM_000512.5(GALNS):c.627C>G (p.Tyr209Ter)	SNV Germline	Chr16:88836207	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143001706	1 SubmittersRCV001578566
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr)	SNV Germline	Chr16:88836223	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_569725936	1 SubmittersRCV001578520
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)	SNV Germline	Chr16:88836256	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1427663367	2 SubmittersRCV001578518
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)	SNV Germline	Chr16:88836263	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143001744	2 SubmittersRCV001578516
NM_000512.5(GALNS):c.567-1G>T	SNV Germline	Chr16:88836268	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_143428106	1 SubmittersRCV001578515
NM_000512.5(GALNS):c.567-3C>T	SNV Germline	Chr16:88836270	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_549597016	3 SubmittersRCV001521417
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)	SNV Germline	Chr16:88837626	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143002317	3 SubmittersRCV001578511
NM_000512.5(GALNS):c.551G>A (p.Trp184Ter)	SNV Germline	Chr16:88837637	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_779545826	1 SubmittersRCV001578392
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)	SNV Germline	Chr16:88837641	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143002331	2 SubmittersRCV001578391
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter)	SNV Germline	Chr16:88837686	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_775732598	1 SubmittersRCV001578381
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr)	SNV Germline	Chr16:88837694	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_768757999	1 SubmittersRCV001578298
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser)	SNV Germline	Chr16:88837697	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_761725425	2 SubmittersRCV001578297
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)	SNV Germline	Chr16:88837724	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143002437	2 SubmittersRCV001578564
NM_000512.5(GALNS):c.448C>T (p.His150Tyr)	SNV Germline	Chr16:88837740	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1168278189	2 SubmittersRCV001578560
NM_000512.5(GALNS):c.442C>T (p.Gln148Ter)	SNV Germline	Chr16:88837746	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143002464	1 SubmittersRCV001578559
NM_000512.5(GALNS):c.433C>T (p.His145Tyr)	SNV Germline	Chr16:88837755	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_577334837	1 SubmittersRCV001578558
NM_000512.5(GALNS):c.426T>A (p.His142Gln)	SNV Germline	Chr16:88837762	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_754616917	2 SubmittersRCV001578557
NM_000512.5(GALNS):c.425A>C (p.His142Pro)	SNV Germline	Chr16:88837763	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1288895691	2 SubmittersRCV001578556
NM_000512.5(GALNS):c.423-1G>A	SNV Germline	Chr16:88837766	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_2143002474	3 SubmittersRCV001578507
NM_000512.5(GALNS):c.422+1G>A	SNV Germline	Chr16:88840991	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1966940003	1 SubmittersRCV001578504
NM_000512.5(GALNS):c.422G>A (p.Trp141Ter)	SNV Germline	Chr16:88840992	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_746862066	1 SubmittersRCV001578503
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter)	SNV Germline	Chr16:88841029	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143004624	1 SubmittersRCV001578377
NM_000512.5(GALNS):c.376G>T (p.Glu126Ter)	SNV Germline	Chr16:88841038	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1177468816	1 SubmittersRCV001578376
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)	SNV Germline	Chr16:88841067	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1966945369	2 SubmittersRCV001578374
NM_000512.5(GALNS):c.320-1G>T	SNV Germline	Chr16:88841095	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1245504167	4 SubmittersRCV001377627
NM_000512.5(GALNS):c.319+2T>C	SNV Germline	Chr16:88841895	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_2143005067	3 SubmittersRCV001578291
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)	SNV Germline	Chr16:88841897	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_763184657	3 SubmittersRCV001578288 RCV003331129
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)	SNV Germline	Chr16:88841903	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143005072	2 SubmittersRCV001578286
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)	SNV Germline	Chr16:88841927	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143005083	2 SubmittersRCV001578283
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)	SNV Germline	Chr16:88841930	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143005086	2 SubmittersRCV001578281
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)	SNV Germline	Chr16:88841935	Pathogenic/Likely pathogenic	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_727503946	3 SubmittersRCV003323865 RCV001578280
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)	SNV Germline	Chr16:88841951	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1160480473	1 SubmittersRCV001578549
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)	SNV Germline	Chr16:88841965	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_141340188	2 SubmittersRCV001578544
NM_000512.5(GALNS):c.245-2A>G	SNV Germline	Chr16:88841973	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1352162269	3 SubmittersRCV001578543
NM_000512.5(GALNS):c.244+1G>T	SNV Germline	Chr16:88842705	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143005452	1 SubmittersRCV001578497
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu)	SNV Germline	Chr16:88842708	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143005457	1 SubmittersRCV001578495
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr)	SNV Germline	Chr16:88842714	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1263679818	1 SubmittersRCV001578492
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)	SNV Germline	Chr16:88842795	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_2143005523	3 SubmittersRCV001382244
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys)	SNV Germline	Chr16:88842799	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1296755011	1 SubmittersRCV001578364
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)	SNV Germline	Chr16:88842807	Pathogenic/Likely pathogenic	Morquio syndrome Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_191519947	4 SubmittersRCV001732134 RCV001578362
NM_000512.5(GALNS):c.121A>T (p.Met41Leu)	SNV Germline	Chr16:88842829	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1283377907	2 SubmittersRCV001578481
NM_000512.5(GALNS):c.121-1G>C	SNV Germline	Chr16:88842830	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1312522259	1 SubmittersRCV001578479
NM_000512.5(GALNS):c.121-1G>A	SNV Germline	Chr16:88842830	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1312522259	2 SubmittersRCV001578478
NM_000512.5(GALNS):c.121-210C>T	SNV Germline	Chr16:88843039	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_75552025	4 SubmittersRCV001557286 RCV001578475
NM_000512.5(GALNS):c.120+1G>A	SNV Germline	Chr16:88856757	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_911877265	3 SubmittersRCV001578473
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)	SNV Germline	Chr16:88856760	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_1967935603	2 SubmittersRCV001578359
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)	SNV Germline	Chr16:88856783	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_773933657	3 SubmittersRCV001578355
NM_000512.5(GALNS):c.85C>T (p.Gln29Ter)	SNV Germline	Chr16:88856793	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1287332192	1 SubmittersRCV001578353
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)	SNV Germline	Chr16:88856844	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_911452920	1 SubmittersRCV001578349
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)	SNV Germline	Chr16:88856849	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_1967945316	3 SubmittersRCV001543344
NM_000512.5(GALNS):c.1A>G (p.Met1Val)	SNV Germline	Chr16:88856877	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_771531650	1 SubmittersRCV001578347
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)	SNV Germline	Chr16:88818114	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_750739641	2 SubmittersRCV001372022 RCV002550143
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)	SNV Germline	Chr16:88832090	Conflicting classifications of pathogenicity	not specified Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_764070268	2 SubmittersRCV003317487 RCV001366215
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	SNV Germline	Chr4:1004314	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_200448421	4 SubmittersRCV001374701 RCV001780270 RCV001865868 RCV003229620
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)	SNV Germline	Chr16:88835804	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143001417	1 SubmittersRCV001379250
NM_000512.5(GALNS):c.422+2T>G	SNV Germline	Chr16:88840990	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143004585	1 SubmittersRCV001376895
NM_000512.5(GALNS):c.422+1G>T	SNV Germline	Chr16:88840991	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1966940003	1 SubmittersRCV001377054
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)	SNV Germline	Chr16:88842722	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_147599478	1 SubmittersRCV001386760
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)	SNV Germline	Chr16:88818080	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Conflicting Classifications		rs_760260706	2 SubmittersRCV001501342 RCV003227978
NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter)	SNV Germline	Chr16:88824800	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142993804	1 SubmittersRCV001783342
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)	SNV Germline	Chr16:88842807	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A not specified	Criteria Provided Conflicting Classifications		rs_191519947	3 SubmittersRCV001807887 RCV001844415
NM_000512.5(GALNS):c.1003-1570G>T	SNV Germline	Chr16:88828408	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142996885	1 SubmittersRCV001844799
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)	SNV Germline	Chr16:88841947	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A not specified	Criteria Provided Conflicting Classifications		rs_754731091	2 SubmittersRCV002036783 RCV003323974
NM_000512.5(GALNS):c.184A>T (p.Met62Leu)	SNV Germline	Chr16:88842766	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1367462378	1 SubmittersRCV001999101
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)	SNV Germline	Chr16:88835835	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143001453	1 SubmittersRCV001973323
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly)	SNV Germline	Chr16:88842769	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_145798311	1 SubmittersRCV001934677
NM_000512.5(GALNS):c.758+1G>A	SNV Germline	Chr16:88835724	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1363382746	1 SubmittersRCV001958921
NM_000512.5(GALNS):c.892G>T (p.Glu298Ter)	SNV Germline	Chr16:88835219	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_767319971	1 SubmittersRCV002000222
NM_000512.5(GALNS):c.1A>T (p.Met1Leu)	SNV Germline	Chr16:88856877	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_771531650	1 SubmittersRCV002002426
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr)	SNV Germline	Chr16:88824813	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1267791852	1 SubmittersRCV002004157
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter)	SNV Germline	Chr16:88835294	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A GALNS-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2143001165	2 SubmittersRCV001894189 RCV003407849
NM_000512.5(GALNS):c.1242+1G>T	SNV Germline	Chr16:88824766	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142993764	1 SubmittersRCV002003611
NM_000512.5(GALNS):c.121-1G>T	SNV Germline	Chr16:88842830	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1312522259	1 SubmittersRCV001963270
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp)	SNV Germline	Chr16:88832098	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_776715466	1 SubmittersRCV002023736
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr)	SNV Germline	Chr16:88841076	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_979373729	1 SubmittersRCV002021121
NM_000512.5(GALNS):c.833C>T (p.Ala278Val)	SNV Germline	Chr16:88835278	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A Condition: not provided	Criteria Provided Conflicting Classifications		rs_141544939	2 SubmittersRCV002112411 RCV002261451
NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)	SNV Germline	Chr16:88835320	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143001182	1 SubmittersRCV002227893
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val)	SNV Germline	Chr16:88818044	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_1909820489	1 SubmittersRCV002227905
NM_000512.5(GALNS):c.1243-2A>C	SNV Germline	Chr16:88822712	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2142992422	1 SubmittersRCV002249051
NM_000512.5(GALNS):c.472G>T (p.Glu158Ter)	SNV Germline	Chr16:88837716	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter		rs_2143002428	1 SubmittersRCV002251196
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)	SNV Germline	Chr16:88841040	Conflicting classifications of pathogenicity	not specified Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications		rs_746949976	3 SubmittersRCV002271793 RCV003445156
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)	SNV Germline	Chr16:88818016	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV002843728
NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)	SNV Germline	Chr16:88826818	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV002903566
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)	SNV Germline	Chr16:88814521	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003022304
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)	SNV Germline	Chr16:88837703	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003030563
NM_000512.5(GALNS):c.1242+1G>C	SNV Germline	Chr16:88824766	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003046821
NM_000512.5(GALNS):c.177G>A (p.Leu59=)	SNV Germline	Chr16:88842773	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Conflicting Classifications			2 SubmittersRCV003135318
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)	SNV Germline	Chr16:88826820	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003145782
NM_000512.5(GALNS):c.1483-2A>C	SNV Germline	Chr16:88814527	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003222545
NM_000512.5(GALNS):c.1365-2A>G	SNV Germline	Chr16:88818126	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			2 SubmittersRCV003313762
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)	SNV Germline	Chr16:88842763	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003318423
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)	SNV Germline	Chr16:88818102	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003388659
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)	SNV Germline	Chr16:88842765	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003496146
NM_000512.5(GALNS):c.1482+2T>C	SNV Germline	Chr16:88818005	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003495403
NM_000512.5(GALNS):c.364C>T (p.Gln122Ter)	SNV Germline	Chr16:88841050	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003497028
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)	SNV Germline	Chr16:88841077	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003497052
NM_000512.5(GALNS):c.570T>G (p.Tyr190Ter)	SNV Germline	Chr16:88836264	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003497273
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)	SNV Germline	Chr16:88835842	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003494644
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)	SNV Germline	Chr16:88835767	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003495045
NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)	SNV Germline	Chr16:88835349	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003495861
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)	SNV Germline	Chr16:88842720	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003495065
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)	SNV Germline	Chr16:88841041	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003495774
NM_000512.5(GALNS):c.2T>C (p.Met1Thr)	SNV Germline	Chr16:88856876	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003496794
NM_000512.5(GALNS):c.552G>A (p.Trp184Ter)	SNV Germline	Chr16:88837636	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003599097
NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)	SNV Germline	Chr16:88822614	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003599212
NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)	SNV Germline	Chr16:88837678	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003599539
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)	SNV Germline	Chr16:88835260	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003599563
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)	SNV Germline	Chr16:88835798	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003599704
NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)	SNV Germline	Chr16:88841922	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003597598
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)	SNV Germline	Chr16:88826823	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003597555
NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)	SNV Germline	Chr16:88822620	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003597585
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)	SNV Germline	Chr16:88835783	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003598651
NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)	SNV Germline	Chr16:88814520	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003842319
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)	SNV Germline	Chr16:88836233	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003849725
NM_000512.5(GALNS):c.566+1G>A	SNV Germline	Chr16:88837621	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003870117
NM_000512.5(GALNS):c.898+2T>A	SNV Germline	Chr16:88835211	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003883387
NM_000512.5(GALNS):c.1139+2T>C	SNV Germline	Chr16:88826700	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV003883388
NM_000512.5(GALNS):c.283A>G (p.Asn95Asp)	SNV Germline	Chr16:88841933	Pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV004527541
NM_000512.5(GALNS):c.301A>G (p.Asn101Asp)	SNV Germline	Chr16:88841915	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV004577257
NM_000512.5(GALNS):c.290T>C (p.Phe97Ser)	SNV Germline	Chr16:88841926	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Single Submitter			1 SubmittersRCV004577258

NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)

SNV
Germline

Chr16:88836222

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

CA251563

rs_118204435

3 SubmittersRCV000000733

NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)

SNV
Germline

Chr16:88824853

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA221040

rs_118204437

14 SubmittersRCV000000735 RCV000079019 RCV000781397

NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)

SNV
Germline

Chr16:88818029

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA251565

rs_118204440

3 SubmittersRCV000000736

NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)

SNV
Germline

Chr16:88841077

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339830

rs_118204438

8 SubmittersRCV000000738 RCV000295527 RCV000723431

NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr16:88818072

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA251566

rs_118204439

3 SubmittersRCV000000739

NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)

SNV
Germline

Chr16:88841936

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

CA251568

rs_118204441

2 SubmittersRCV000000740

NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)

SNV
Germline

Chr16:88835335

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA251569

rs_118204442

5 SubmittersRCV000000741

NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)

SNV
Germline

Chr16:88835240

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA251570

rs_118204448

7 SubmittersRCV000000742 RCV003234884

NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)

SNV
Germline

Chr16:88832099

Pathogenic

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA221063

rs_118204443

9 SubmittersRCV000000743 RCV000790840 RCV000781400

NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)

SNV
Germline

Chr16:88837703

Pathogenic

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251571

rs_118204444

5 SubmittersRCV000000744 RCV000723452

NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)

SNV
Germline

Chr16:88835794

Pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA251573

rs_118204449

4 SubmittersRCV000000746 RCV001193132

NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)

SNV
Germline

Chr16:88832065

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA339831

rs_118204446

6 SubmittersRCV000000748 RCV001193737

NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)

SNV
Germline

Chr16:88842772

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA251575

rs_118204447

4 SubmittersRCV000000749

NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)

SNV
Germline

Chr16:88826822

Pathogenic/Likely pathogenic

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA251576

rs_267606838

7 SubmittersRCV003155036 RCV000000750

NM_000512.5(GALNS):c.1171A>G (p.Met391Val)

SNV
Germline

Chr16:88824838

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA221041

rs_398123429

5 SubmittersRCV000174006 RCV001389836 RCV001201184

NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)

SNV
Germline

Chr16:88824834

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA221042

rs_398123430

8 SubmittersRCV000174007 RCV001578422

NM_000512.5(GALNS):c.1176G>A (p.Ala392=)

SNV
Germline

Chr16:88824833

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA221043

rs_398123431

2 SubmittersRCV000079022 RCV002515757

NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)

SNV
Germline

Chr16:88822599

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA221045

rs_398123432

4 SubmittersRCV000079024 RCV001578612

NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)

SNV
Germline

Chr16:88814450

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA221047

rs_398123434

4 SubmittersRCV000079028 RCV001578461

NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)

SNV
Germline

Chr16:88814449

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA221049

rs_372893383

5 SubmittersRCV000174686 RCV001578462 RCV002509202

NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)

SNV
Germline

Chr16:88842732

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA221051

rs_398123435

4 SubmittersRCV000079031 RCV001578486

NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)

SNV
Germline

Chr16:88841971

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

CA221053

rs_371429653

7 SubmittersRCV000079033 RCV001352891 RCV002271402

NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)

SNV
Germline

Chr16:88837725

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Skeletal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA221057

rs_398123438

8 SubmittersRCV000178783 RCV001578563 RCV002272058

NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)

SNV
Germline

Chr16:88837711

Pathogenic

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA221058

rs_398123439

6 SubmittersRCV000178782 RCV000790674

NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)

SNV
Germline

Chr16:88835779

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA221060

rs_398123440

4 SubmittersRCV000179764 RCV001578303

NM_000512.5(GALNS):c.707A>G (p.His236Arg)

SNV
Germline

Chr16:88835776

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA221061

rs_398123441

4 SubmittersRCV000079043 RCV001731366 RCV001578306

NM_000512.5(GALNS):c.281G>A (p.Arg94His)

SNV
Germline

Chr16:88841935

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

CA234076

rs_727503946

5 SubmittersRCV000153304 RCV001294423 RCV003155092

NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)

SNV
Germline

Chr16:88837646

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA274846

rs_786205899

3 SubmittersRCV000172874

NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)

SNV
Germline

Chr16:88826714

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
not specified

Criteria Provided
Conflicting Classifications

CA239140

rs_150734270

7 SubmittersRCV000173702 RCV000697370 RCV001844067

NM_000512.5(GALNS):c.319+15G>T

SNV
Germline

Chr16:88841882

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA243181

rs_777179922

2 SubmittersRCV000177076 RCV002054086

NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)

SNV
Germline

Chr16:88840993

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA275246

rs_794727625

4 SubmittersRCV000178107 RCV000282371

NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)

SNV
Germline

Chr16:88835743

Conflicting classifications of pathogenicity

Condition: not provided
Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA247067

rs_761385192

6 SubmittersRCV000298139 RCV000826109 RCV001544508

NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)

SNV
Germline

Chr16:88835818

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA247068

rs_140162658

4 SubmittersRCV000179765 RCV000310050

NM_000512.5(GALNS):c.953T>G (p.Met318Arg)

SNV
Germline

Chr16:88832047

Pathogenic

Condition: not provided
Inborn genetic diseases
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA275446

rs_746756997

6 SubmittersRCV000180514 RCV000624404 RCV001389837 RCV001193735

NM_000512.5(GALNS):c.898+1G>C

SNV
Germline

Chr16:88835212

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA357205

rs_761850746

3 SubmittersRCV000210353

NM_000512.5(GALNS):c.858G>A (p.Thr286=)

SNV
Germline

Chr16:88835253

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8234956

rs_140299014

4 SubmittersRCV000249866 RCV000973824

NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)

SNV
Germline

Chr16:88814523

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA10588631

rs_886039377

4 SubmittersRCV000254830 RCV001578441

NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)

SNV
Germline

Chr16:88835251

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8234955

rs_770053354

12 SubmittersRCV000255770 RCV000701162 RCV004017572

NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)

SNV
Germline

Chr16:88840999

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8235170

rs_146093755

8 SubmittersRCV000254865 RCV000691262 RCV003230469

NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys)

SNV
Germline

Chr16:88836265

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA10603754

rs_886042058

2 SubmittersRCV000286677 RCV003883147

NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)

SNV
Germline

Chr16:88842811

Pathogenic/Likely pathogenic

Condition: not provided
Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA8235279

rs_199638097

7 SubmittersRCV000274769 RCV001193130 RCV000818831

NM_000512.5(GALNS):c.1113C>T (p.Thr371=)

SNV
Germline

Chr16:88826728

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA10604338

rs_375098009

2 SubmittersRCV000389919 RCV003765598

NM_000512.5(GALNS):c.899-6T>C

SNV
Germline

Chr16:88832107

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8234914

rs_374850312

2 SubmittersRCV000307021 RCV002059155

NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)

SNV
Germline

Chr16:88837737

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8235133

rs_781439830

4 SubmittersRCV000374370 RCV003323515

NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)

SNV
Germline

Chr16:88822706

Conflicting classifications of pathogenicity

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8234741

rs_142822371

6 SubmittersRCV000331371 RCV000894656 RCV003480600 RCV003235192

NM_000512.5(GALNS):c.921G>T (p.Leu307=)

SNV
Germline

Chr16:88832079

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
GALNS-related disorder

Criteria Provided
Conflicting Classifications

CA8234901

rs_201986622

4 SubmittersRCV000960515 RCV003940262

NM_000512.5(GALNS):c.121-4G>A

SNV
Germline

Chr16:88842833

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
GALNS-related disorder

Criteria Provided
Conflicting Classifications

CA8235281

rs_200008960

4 SubmittersRCV000294355 RCV003950092

NM_000512.5(GALNS):c.*3C>G

SNV
Germline

Chr16:88814436

Conflicting classifications of pathogenicity

Morquio syndrome
Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8234632

rs_77826920

6 SubmittersRCV000401004 RCV000675525 RCV001117490

NM_000512.5(GALNS):c.1071G>A (p.Pro357=)

SNV
Germline

Chr16:88826770

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8234832

rs_374619390

3 SubmittersRCV000974782

NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)

SNV
Germline

Chr16:88831999

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8234879

rs_138555898

3 SubmittersRCV000280847 RCV000675534

NM_000512.5(GALNS):c.633+13G>C

SNV
Germline

Chr16:88836188

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8235072

rs_200292757

2 SubmittersRCV000362450

NM_000512.5(GALNS):c.499T>G (p.Phe167Val)

SNV
Germline

Chr16:88837689

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8235120

rs_148565559

6 SubmittersRCV000322011 RCV002254293 RCV003987507

NM_000512.5(GALNS):c.*236C>T

SNV
Germline

Chr16:88814203

Conflicting classifications of pathogenicity

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649279

rs_189375208

3 SubmittersRCV000290934 RCV001116032 RCV002254921

NM_000512.5(GALNS):c.1242+3A>G

SNV
Germline

Chr16:88824764

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
not specified

Criteria Provided
Conflicting Classifications

CA8234771

rs_377067312

3 SubmittersRCV000272920 RCV003155160

NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)

SNV
Germline

Chr16:88824823

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8234779

rs_371459975

4 SubmittersRCV000326460 RCV000490121

NM_000512.5(GALNS):c.1008C>T (p.Ser336=)

SNV
Germline

Chr16:88826833

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA10649288

rs_886052456

2 SubmittersRCV000320594

NM_000512.5(GALNS):c.1003-10T>C

SNV
Germline

Chr16:88826848

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8234844

rs_753249472

2 SubmittersRCV000377728

NM_000512.5(GALNS):c.850T>G (p.Phe284Val)

SNV
Germline

Chr16:88835261

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

CA8234959

rs_144067930

6 SubmittersRCV000614681 RCV000844697

NM_000512.5(GALNS):c.911G>T (p.Gly304Val)

SNV
Germline

Chr16:88832089

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8234906

rs_758439379

4 SubmittersRCV000413811 RCV001578589

NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)

SNV
Germline

Chr16:88835240

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

CA16607530

rs_118204448

5 SubmittersRCV000420010 RCV001578578 RCV004526672

NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)

SNV
Germline

Chr16:88836223

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Skeletal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA8235078

rs_569725936

5 SubmittersRCV000431100 RCV001861541 RCV002272233

NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)

SNV
Germline

Chr16:88842769

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8235266

rs_145798311

9 SubmittersRCV000420201 RCV000633462 RCV002230025

NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)

SNV
Germline

Chr16:88841055

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8235187

rs_112454391

3 SubmittersRCV000534418

NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)

SNV
Germline

Chr16:88835227

Pathogenic/Likely pathogenic

Inborn genetic diseases
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA8234948

rs_149239881

4 SubmittersRCV000623443 RCV001235768

NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)

SNV
Germline

Chr16:88841948

Pathogenic

Inborn genetic diseases
Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286406375

rs_1028668536

7 SubmittersRCV000624508 RCV000763388 RCV003128664

NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)

SNV
Germline

Chr16:88842711

Pathogenic/Likely pathogenic

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A
GALNS-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397091149

rs_1209154325

7 SubmittersRCV001193736 RCV001578493 RCV003420080 RCV000622775

NM_000512.5(GALNS):c.122T>A (p.Met41Lys)

SNV
Germline

Chr16:88842828

Conflicting classifications of pathogenicity

Inborn genetic diseases
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA397092190

rs_1555523411

3 SubmittersRCV000624617 RCV001578482

NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)

SNV
Unknown

Chr16:88814506

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

CA286432122

rs_948490589

1 SubmittersRCV000625916

NM_000512.5(GALNS):c.952A>G (p.Met318Val)

SNV
Germline

Chr16:88832048

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

CA397101204

rs_537013895

1 SubmittersRCV000626204

NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)

SNV
Germline

Chr16:88824845

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

CA8234784

rs_752339162

3 SubmittersRCV000633460

NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)

SNV
Germline

Chr16:88856771

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA8235396

rs_755832705

4 SubmittersRCV000633458

NM_000512.5(GALNS):c.898+1G>A

SNV
Germline

Chr16:88835212

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA8234943

rs_761850746

3 SubmittersRCV000633461

NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)

SNV
Germline

Chr16:88837686

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

CA8235119

rs_775732598

4 SubmittersRCV000633457

NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)

SNV
Germline

Chr16:88837722

Pathogenic/Likely pathogenic

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397083329

rs_1308500116

5 SubmittersRCV002222567 RCV000633459 RCV003151799

NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)

SNV
Germline

Chr16:88835842

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_771810111

3 SubmittersRCV000690528

NM_000512.5(GALNS):c.121-2A>G

SNV
Germline

Chr16:88842831

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567538216

3 SubmittersRCV000693803

NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)

SNV
Germline

Chr16:88841083

Pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_200374326

4 SubmittersRCV000690516 RCV001193733

NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)

SNV
Germline

Chr16:88832000

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567526805

3 SubmittersRCV000760156

NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)

SNV
Germline

Chr16:88837721

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1301146300

4 SubmittersRCV000761302

NM_000512.5(GALNS):c.857C>T (p.Thr286Met)

SNV
Germline

Chr16:88835254

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_137927658

4 SubmittersRCV000781396 RCV000890160

NM_000512.5(GALNS):c.899-2A>G

SNV
Germline

Chr16:88832103

Likely pathogenic

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1165218506

2 SubmittersRCV000781398 RCV001578586

NM_000512.5(GALNS):c.1219A>C (p.Asn407His)

SNV
Germline

Chr16:88824790

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749578474

5 SubmittersRCV000784908 RCV001759478

NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)

SNV
Germline

Chr16:88841936

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_118204441

5 SubmittersRCV000806517

NM_000512.5(GALNS):c.1364+1G>A

SNV
Germline

Chr16:88822588

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_773746427

3 SubmittersRCV000799902

NM_000512.5(GALNS):c.324C>T (p.Tyr108=)

SNV
Germline

Chr16:88841090

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
GALNS-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150582627

5 SubmittersRCV000954755 RCV003935838 RCV003334031

NM_000512.5(GALNS):c.303C>T (p.Asn101=)

SNV
Germline

Chr16:88841913

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_79146426

3 SubmittersRCV000895224

NM_000512.5(GALNS):c.771C>T (p.Ala257=)

SNV
Germline

Chr16:88835340

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_370586494

4 SubmittersRCV000917491 RCV001119182

NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)

SNV
Germline

Chr16:88818015

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

rs_760300454

7 SubmittersRCV000985198 RCV004017767

NM_000512.5(GALNS):c.423-862C>T

SNV
Germline

Chr16:88838627

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1597575641

2 SubmittersRCV000985199

NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)

SNV
Germline

Chr16:88814515

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1597515555

3 SubmittersRCV000989651

NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)

SNV
Germline

Chr16:88837697

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_761725425

5 SubmittersRCV000989653

NM_000512.5(GALNS):c.425A>T (p.His142Leu)

SNV
Germline

Chr16:88837763

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1288895691

2 SubmittersRCV001037304

NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)

SNV
Germline

Chr16:88842720

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1422505598

7 SubmittersRCV001062057 RCV003235459

NM_000512.5(GALNS):c.118G>C (p.Asp40His)

SNV
Germline

Chr16:88856760

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1967935603

1 SubmittersRCV001051437

NM_000512.5(GALNS):c.120+1G>C

SNV
Germline

Chr16:88856757

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_911877265

4 SubmittersRCV001051438

NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)

SNV
Germline

Chr16:88856762

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1967935882

2 SubmittersRCV001090039

NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)

SNV
Germline

Chr16:88826792

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1910973930

2 SubmittersRCV001093709

NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)

SNV
Germline

Chr16:88837736

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_559063128

6 SubmittersRCV001093710

NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)

SNV
Germline

Chr16:88835347

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1912009292

1 SubmittersRCV001093711

NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)

SNV
Germline

Chr16:88842715

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1478665723

5 SubmittersRCV001093713

NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)

SNV
Germline

Chr16:88841040

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_746949976

4 SubmittersRCV001095388

NM_000512.5(GALNS):c.1410G>A (p.Ser470=)

SNV
Germline

Chr16:88818079

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_763263800

2 SubmittersRCV001119087

NM_000512.5(GALNS):c.1269C>T (p.Asn423=)

SNV
Germline

Chr16:88822684

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_148709901

2 SubmittersRCV001121050

NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)

SNV
Germline

Chr16:88826733

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_749891007

4 SubmittersRCV001116143

NM_000512.5(GALNS):c.1059G>A (p.Ala353=)

SNV
Germline

Chr16:88826782

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_768334388

2 SubmittersRCV001116147

NM_000512.5(GALNS):c.993T>C (p.Thr331=)

SNV
Germline

Chr16:88832007

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_762154863

2 SubmittersRCV001117579

NM_000512.5(GALNS):c.256C>T (p.Leu86=)

SNV
Germline

Chr16:88841960

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_190707335

2 SubmittersRCV001121176

NM_000512.5(GALNS):c.1140-15C>T

SNV
Germline

Chr16:88824884

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1910644710

2 SubmittersRCV001121051

NM_000512.5(GALNS):c.121-7C>G

SNV
Germline

Chr16:88842836

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1004936255

2 SubmittersRCV001172401

NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)

SNV
Germline

Chr16:88841068

Pathogenic

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A
GALNS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1444754604

5 SubmittersRCV001193131 RCV001578373 RCV003908434

NM_000512.5(GALNS):c.1139+1G>A

SNV
Germline

Chr16:88826701

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_765608680

3 SubmittersRCV001207376

NM_000512.5(GALNS):c.899-2A>C

SNV
Germline

Chr16:88832103

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1165218506

2 SubmittersRCV001214626

NM_000512.5(GALNS):c.498C>G (p.His166Gln)

SNV
Germline

Chr16:88837690

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

rs_1301198698

4 SubmittersRCV001250221 RCV003387984

NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)

SNV
Germline

Chr16:88835726

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_775300515

3 SubmittersRCV001298369

NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)

SNV
Germline

Chr16:88835783

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_368603508

3 SubmittersRCV001319632

NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)

SNV
Germline

Chr16:88836232

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Hereditary factor VIII deficiency disease
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_772413313

4 SubmittersRCV001321220 RCV004545202 RCV004526837 RCV004579572

NM_000512.5(GALNS):c.1365-1G>C

SNV
Germline

Chr16:88818125

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1909832718

2 SubmittersRCV001332505

NM_000512.5(GALNS):c.320-1G>C

SNV
Germline

Chr16:88841095

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1245504167

2 SubmittersRCV001783343

NM_000512.5(GALNS):c.986A>C (p.His329Pro)

SNV
Germline

Chr16:88832014

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

rs_760892654

6 SubmittersRCV001349762 RCV003490214

NM_000512.5(GALNS):c.425A>G (p.His142Arg)

SNV
Germline

Chr16:88837763

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1288895691

4 SubmittersRCV001349763 RCV001531861

NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp)

SNV
Germline

Chr16:88814440

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2142966615

2 SubmittersRCV001578466

NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)

SNV
Germline

Chr16:88814441

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1348149236

2 SubmittersRCV001578464

NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)

SNV
Germline

Chr16:88814489

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1567509070

3 SubmittersRCV001543345

NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)

SNV
Germline

Chr16:88814506

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_948490589

4 SubmittersRCV001578446

NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)

SNV
Germline

Chr16:88814510

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1303492021

2 SubmittersRCV001578444

NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)

SNV
Germline

Chr16:88814525

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1404888504

4 SubmittersRCV001562127 RCV001578440

NM_000512.5(GALNS):c.1483-1G>C

SNV
Germline

Chr16:88814526

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1223848239

1 SubmittersRCV001578438

NM_000512.5(GALNS):c.1483-1G>A

SNV
Germline

Chr16:88814526

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1223848239

1 SubmittersRCV001578439

NM_000512.5(GALNS):c.1483-2A>G

SNV
Germline

Chr16:88814527

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142967340

1 SubmittersRCV001578437

NM_000512.5(GALNS):c.1483-15A>G

SNV
Germline

Chr16:88814540

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1461992033

3 SubmittersRCV001578436

NM_000512.5(GALNS):c.1480A>G (p.Met494Val)

SNV
Germline

Chr16:88818009

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1401175486

3 SubmittersRCV001384759

NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)

SNV
Germline

Chr16:88818039

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1204485789

2 SubmittersRCV001578343

NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)

SNV
Germline

Chr16:88818042

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142982313

1 SubmittersRCV001578342

NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter)

SNV
Germline

Chr16:88818069

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1330564240

1 SubmittersRCV001578339

NM_000512.5(GALNS):c.1365-1G>A

SNV
Germline

Chr16:88818125

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1909832718

1 SubmittersRCV001578617

NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)

SNV
Germline

Chr16:88822599

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

rs_398123432

2 SubmittersRCV001578613 RCV004526842

NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)

SNV
Germline

Chr16:88822689

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1295162107

3 SubmittersRCV001578605

NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)

SNV
Germline

Chr16:88822694

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_752937387

5 SubmittersRCV001578458

NM_000512.5(GALNS):c.1243-1G>C

SNV
Germline

Chr16:88822711

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1597535277

1 SubmittersRCV001578454

NM_000512.5(GALNS):c.1243-1G>A

SNV
Germline

Chr16:88822711

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1597535277

1 SubmittersRCV001578453

NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr16:88824769

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_757870208

6 SubmittersRCV001358674

NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)

SNV
Germline

Chr16:88824794

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142993793

1 SubmittersRCV001578449

NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter)

SNV
Germline

Chr16:88824795

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142993795

1 SubmittersRCV001578448

NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)

SNV
Germline

Chr16:88824813

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1267791852

3 SubmittersRCV001578431

NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)

SNV
Germline

Chr16:88824840

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2142993863

2 SubmittersRCV001578337

NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)

SNV
Germline

Chr16:88824847

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_373739301

3 SubmittersRCV001578336

NM_000512.5(GALNS):c.1157G>A (p.Arg386His)

SNV
Germline

Chr16:88824852

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

rs_1221167717

3 SubmittersRCV001578334 RCV002469379

NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)

SNV
Germline

Chr16:88824854

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1426905479

2 SubmittersRCV001578332

NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)

SNV
Germline

Chr16:88824867

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2142993896

2 SubmittersRCV001578331

NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly)

SNV
Germline

Chr16:88826703

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_770908172

2 SubmittersRCV001578327

NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr16:88826721

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_761455237

1 SubmittersRCV001578602

NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)

SNV
Germline

Chr16:88826818

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142995871

1 SubmittersRCV001578537

NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)

SNV
Germline

Chr16:88826829

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_767131589

3 SubmittersRCV001358675

NM_000512.5(GALNS):c.1003-2A>C

SNV
Germline

Chr16:88826840

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1344555845

1 SubmittersRCV001578535

NM_000512.5(GALNS):c.1003-3C>G

SNV
Germline

Chr16:88826841

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

rs_760239741

4 SubmittersRCV001578534 RCV003331132

NM_000512.5(GALNS):c.1002+307G>C

SNV
Germline

Chr16:88831691

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_866140272

2 SubmittersRCV001572328 RCV001578533

NM_000512.5(GALNS):c.978G>A (p.Trp326Ter)

SNV
Germline

Chr16:88832022

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1911558912

1 SubmittersRCV001578420

NM_000512.5(GALNS):c.974G>A (p.Trp325Ter)

SNV
Germline

Chr16:88832026

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142999142

1 SubmittersRCV001578416

NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)

SNV
Germline

Chr16:88832051

Conflicting classifications of pathogenicity

Abnormality of metabolism/homeostasis
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_556060696

3 SubmittersRCV001814310 RCV001578410

NM_000512.5(GALNS):c.949G>A (p.Gly317Arg)

SNV
Germline

Chr16:88832051

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_556060696

3 SubmittersRCV001555291 RCV001578409

NM_000512.5(GALNS):c.938C>T (p.Thr313Met)

SNV
Germline

Chr16:88832062

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Conflicting Classifications

rs_894525161

7 SubmittersRCV001578324 RCV003331131

NM_000512.5(GALNS):c.934A>T (p.Thr312Ser)

SNV
Germline

Chr16:88832066

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2142999186

2 SubmittersRCV001578322

NM_000512.5(GALNS):c.934A>G (p.Thr312Ala)

SNV
Germline

Chr16:88832066

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142999186

1 SubmittersRCV001578321

NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)

SNV
Germline

Chr16:88832080

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2142999202

3 SubmittersRCV001368742

NM_000512.5(GALNS):c.917T>G (p.Phe306Cys)

SNV
Germline

Chr16:88832083

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_759590432

2 SubmittersRCV001578317

NM_000512.5(GALNS):c.916T>G (p.Phe306Val)

SNV
Germline

Chr16:88832084

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided
Morquio syndrome

Criteria Provided
Conflicting Classifications

rs_2142999207

4 SubmittersRCV001578315 RCV001531860 RCV002242515

NM_000512.5(GALNS):c.899-1G>C

SNV
Germline

Chr16:88832102

Pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_745523154

3 SubmittersRCV001578585 RCV002509670

NM_000512.5(GALNS):c.895C>T (p.Gln299Ter)

SNV
Germline

Chr16:88835216

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143001103

1 SubmittersRCV001578582

NM_000512.5(GALNS):c.887C>T (p.Ala296Val)

SNV
Germline

Chr16:88835224

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_200371805

2 SubmittersRCV001578581

NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)

SNV
Germline

Chr16:88835243

Pathogenic/Likely pathogenic

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_975409254

3 SubmittersRCV002271645 RCV001578530

NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)

SNV
Germline

Chr16:88835245

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
not specified

Criteria Provided
Conflicting Classifications

rs_1465096387

3 SubmittersRCV001578528 RCV003987849

NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)

SNV
Germline

Chr16:88835287

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
not specified

Criteria Provided
Conflicting Classifications

rs_2143001162

3 SubmittersRCV001578522 RCV003399148

NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter)

SNV
Germline

Chr16:88835349

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_770815269

1 SubmittersRCV001578400

NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys)

SNV
Germline

Chr16:88835350

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143001210

2 SubmittersRCV001578399

NM_000512.5(GALNS):c.759-2A>G

SNV
Germline

Chr16:88835354

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143001213

1 SubmittersRCV001578398

NM_000512.5(GALNS):c.759-67G>A

SNV
Germline

Chr16:88835419

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_565875595

2 SubmittersRCV001513402

NM_000512.5(GALNS):c.758+1G>C

SNV
Germline

Chr16:88835724

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1363382746

1 SubmittersRCV001578395

NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)

SNV
Germline

Chr16:88835731

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1199639828

3 SubmittersRCV001578313

NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)

SNV
Germline

Chr16:88835732

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1275386976

4 SubmittersRCV001389838

NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)

SNV
Germline

Chr16:88835758

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143001380

2 SubmittersRCV001578312

NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)

SNV
Germline

Chr16:88835764

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_752039956

4 SubmittersRCV001578310

NM_000512.5(GALNS):c.715G>T (p.Val239Phe)

SNV
Germline

Chr16:88835768

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_145131011

2 SubmittersRCV001578309

NM_000512.5(GALNS):c.707A>C (p.His236Pro)

SNV
Germline

Chr16:88835776

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_398123441

1 SubmittersRCV001578307

NM_000512.5(GALNS):c.706C>T (p.His236Tyr)

SNV
Germline

Chr16:88835777

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1228027865

1 SubmittersRCV001578305

NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)

SNV
Germline

Chr16:88835786

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_753051547

5 SubmittersRCV001578302 RCV004017823

NM_000512.5(GALNS):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr16:88835825

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1456807949

1 SubmittersRCV001578573

NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)

SNV
Germline

Chr16:88835836

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_747805226

4 SubmittersRCV001578571

NM_000512.5(GALNS):c.638C>T (p.Ala213Val)

SNV
Germline

Chr16:88835845

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_770239604

2 SubmittersRCV001578570

NM_000512.5(GALNS):c.634-1G>T

SNV
Germline

Chr16:88835850

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143001463

1 SubmittersRCV001578569

NM_000512.5(GALNS):c.634-1G>A

SNV
Germline

Chr16:88835850

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143001463

1 SubmittersRCV001578568

NM_000512.5(GALNS):c.631C>T (p.Gln211Ter)

SNV
Germline

Chr16:88836203

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1912124497

2 SubmittersRCV001578567

NM_000512.5(GALNS):c.627C>G (p.Tyr209Ter)

SNV
Germline

Chr16:88836207

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143001706

1 SubmittersRCV001578566

NM_000512.5(GALNS):c.611A>C (p.Asn204Thr)

SNV
Germline

Chr16:88836223

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_569725936

1 SubmittersRCV001578520

NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)

SNV
Germline

Chr16:88836256

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1427663367

2 SubmittersRCV001578518

NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)

SNV
Germline

Chr16:88836263

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143001744

2 SubmittersRCV001578516

NM_000512.5(GALNS):c.567-1G>T

SNV
Germline

Chr16:88836268

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_143428106

1 SubmittersRCV001578515

NM_000512.5(GALNS):c.567-3C>T

SNV
Germline

Chr16:88836270

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_549597016

3 SubmittersRCV001521417

NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)

SNV
Germline

Chr16:88837626

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143002317

3 SubmittersRCV001578511

NM_000512.5(GALNS):c.551G>A (p.Trp184Ter)

SNV
Germline

Chr16:88837637

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_779545826

1 SubmittersRCV001578392

NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)

SNV
Germline

Chr16:88837641

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143002331

2 SubmittersRCV001578391

NM_000512.5(GALNS):c.502G>T (p.Gly168Ter)

SNV
Germline

Chr16:88837686

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_775732598

1 SubmittersRCV001578381

NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr)

SNV
Germline

Chr16:88837694

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_768757999

1 SubmittersRCV001578298

NM_000512.5(GALNS):c.491A>G (p.Asn164Ser)

SNV
Germline

Chr16:88837697

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_761725425

2 SubmittersRCV001578297

NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)

SNV
Germline

Chr16:88837724

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143002437

2 SubmittersRCV001578564

NM_000512.5(GALNS):c.448C>T (p.His150Tyr)

SNV
Germline

Chr16:88837740

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1168278189

2 SubmittersRCV001578560

NM_000512.5(GALNS):c.442C>T (p.Gln148Ter)

SNV
Germline

Chr16:88837746

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143002464

1 SubmittersRCV001578559

NM_000512.5(GALNS):c.433C>T (p.His145Tyr)

SNV
Germline

Chr16:88837755

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_577334837

1 SubmittersRCV001578558

NM_000512.5(GALNS):c.426T>A (p.His142Gln)

SNV
Germline

Chr16:88837762

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_754616917

2 SubmittersRCV001578557

NM_000512.5(GALNS):c.425A>C (p.His142Pro)

SNV
Germline

Chr16:88837763

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1288895691

2 SubmittersRCV001578556

NM_000512.5(GALNS):c.423-1G>A

SNV
Germline

Chr16:88837766

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143002474

3 SubmittersRCV001578507

NM_000512.5(GALNS):c.422+1G>A

SNV
Germline

Chr16:88840991

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1966940003

1 SubmittersRCV001578504

NM_000512.5(GALNS):c.422G>A (p.Trp141Ter)

SNV
Germline

Chr16:88840992

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_746862066

1 SubmittersRCV001578503

NM_000512.5(GALNS):c.385A>T (p.Lys129Ter)

SNV
Germline

Chr16:88841029

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143004624

1 SubmittersRCV001578377

NM_000512.5(GALNS):c.376G>T (p.Glu126Ter)

SNV
Germline

Chr16:88841038

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1177468816

1 SubmittersRCV001578376

NM_000512.5(GALNS):c.347G>T (p.Gly116Val)

SNV
Germline

Chr16:88841067

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1966945369

2 SubmittersRCV001578374

NM_000512.5(GALNS):c.320-1G>T

SNV
Germline

Chr16:88841095

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1245504167

4 SubmittersRCV001377627

NM_000512.5(GALNS):c.319+2T>C

SNV
Germline

Chr16:88841895

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143005067

3 SubmittersRCV001578291

NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)

SNV
Germline

Chr16:88841897

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_763184657

3 SubmittersRCV001578288 RCV003331129

NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)

SNV
Germline

Chr16:88841903

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143005072

2 SubmittersRCV001578286

NM_000512.5(GALNS):c.289T>G (p.Phe97Val)

SNV
Germline

Chr16:88841927

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143005083

2 SubmittersRCV001578283

NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)

SNV
Germline

Chr16:88841930

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143005086

2 SubmittersRCV001578281

NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)

SNV
Germline

Chr16:88841935

Pathogenic/Likely pathogenic

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_727503946

3 SubmittersRCV003323865 RCV001578280

NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)

SNV
Germline

Chr16:88841951

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1160480473

1 SubmittersRCV001578549

NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)

SNV
Germline

Chr16:88841965

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_141340188

2 SubmittersRCV001578544

NM_000512.5(GALNS):c.245-2A>G

SNV
Germline

Chr16:88841973

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1352162269

3 SubmittersRCV001578543

NM_000512.5(GALNS):c.244+1G>T

SNV
Germline

Chr16:88842705

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143005452

1 SubmittersRCV001578497

NM_000512.5(GALNS):c.242C>T (p.Pro81Leu)

SNV
Germline

Chr16:88842708

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143005457

1 SubmittersRCV001578495

NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr)

SNV
Germline

Chr16:88842714

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1263679818

1 SubmittersRCV001578492

NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)

SNV
Germline

Chr16:88842795

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_2143005523

3 SubmittersRCV001382244

NM_000512.5(GALNS):c.151G>A (p.Glu51Lys)

SNV
Germline

Chr16:88842799

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1296755011

1 SubmittersRCV001578364

NM_000512.5(GALNS):c.143T>G (p.Val48Gly)

SNV
Germline

Chr16:88842807

Pathogenic/Likely pathogenic

Morquio syndrome
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_191519947

4 SubmittersRCV001732134 RCV001578362

NM_000512.5(GALNS):c.121A>T (p.Met41Leu)

SNV
Germline

Chr16:88842829

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1283377907

2 SubmittersRCV001578481

NM_000512.5(GALNS):c.121-1G>C

SNV
Germline

Chr16:88842830

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1312522259

1 SubmittersRCV001578479

NM_000512.5(GALNS):c.121-1G>A

SNV
Germline

Chr16:88842830

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1312522259

2 SubmittersRCV001578478

NM_000512.5(GALNS):c.121-210C>T

SNV
Germline

Chr16:88843039

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_75552025

4 SubmittersRCV001557286 RCV001578475

NM_000512.5(GALNS):c.120+1G>A

SNV
Germline

Chr16:88856757

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_911877265

3 SubmittersRCV001578473

NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)

SNV
Germline

Chr16:88856760

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_1967935603

2 SubmittersRCV001578359

NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)

SNV
Germline

Chr16:88856783

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_773933657

3 SubmittersRCV001578355

NM_000512.5(GALNS):c.85C>T (p.Gln29Ter)

SNV
Germline

Chr16:88856793

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1287332192

1 SubmittersRCV001578353

NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)

SNV
Germline

Chr16:88856844

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_911452920

1 SubmittersRCV001578349

NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)

SNV
Germline

Chr16:88856849

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1967945316

3 SubmittersRCV001543344

NM_000512.5(GALNS):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:88856877

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_771531650

1 SubmittersRCV001578347

NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)

SNV
Germline

Chr16:88818114

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_750739641

2 SubmittersRCV001372022 RCV002550143

NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)

SNV
Germline

Chr16:88832090

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_764070268

2 SubmittersRCV003317487 RCV001366215

NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)

SNV
Germline

Chr4:1004314

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_200448421

4 SubmittersRCV001374701 RCV001780270 RCV001865868 RCV003229620

NM_000512.5(GALNS):c.679T>G (p.Phe227Val)

SNV
Germline

Chr16:88835804

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143001417

1 SubmittersRCV001379250

NM_000512.5(GALNS):c.422+2T>G

SNV
Germline

Chr16:88840990

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143004585

1 SubmittersRCV001376895

NM_000512.5(GALNS):c.422+1G>T

SNV
Germline

Chr16:88840991

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1966940003

1 SubmittersRCV001377054

NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)

SNV
Germline

Chr16:88842722

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_147599478

1 SubmittersRCV001386760

NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)

SNV
Germline

Chr16:88818080

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760260706

2 SubmittersRCV001501342 RCV003227978

NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter)

SNV
Germline

Chr16:88824800

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142993804

1 SubmittersRCV001783342

NM_000512.5(GALNS):c.143T>C (p.Val48Ala)

SNV
Germline

Chr16:88842807

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
not specified

Criteria Provided
Conflicting Classifications

rs_191519947

3 SubmittersRCV001807887 RCV001844415

NM_000512.5(GALNS):c.1003-1570G>T

SNV
Germline

Chr16:88828408

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142996885

1 SubmittersRCV001844799

NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)

SNV
Germline

Chr16:88841947

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
not specified

Criteria Provided
Conflicting Classifications

rs_754731091

2 SubmittersRCV002036783 RCV003323974

NM_000512.5(GALNS):c.184A>T (p.Met62Leu)

SNV
Germline

Chr16:88842766

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1367462378

1 SubmittersRCV001999101

NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)

SNV
Germline

Chr16:88835835

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143001453

1 SubmittersRCV001973323

NM_000512.5(GALNS):c.181C>G (p.Arg61Gly)

SNV
Germline

Chr16:88842769

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_145798311

1 SubmittersRCV001934677

NM_000512.5(GALNS):c.758+1G>A

SNV
Germline

Chr16:88835724

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1363382746

1 SubmittersRCV001958921

NM_000512.5(GALNS):c.892G>T (p.Glu298Ter)

SNV
Germline

Chr16:88835219

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_767319971

1 SubmittersRCV002000222

NM_000512.5(GALNS):c.1A>T (p.Met1Leu)

SNV
Germline

Chr16:88856877

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_771531650

1 SubmittersRCV002002426

NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr)

SNV
Germline

Chr16:88824813

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1267791852

1 SubmittersRCV002004157

NM_000512.5(GALNS):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr16:88835294

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
GALNS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143001165

2 SubmittersRCV001894189 RCV003407849

NM_000512.5(GALNS):c.1242+1G>T

SNV
Germline

Chr16:88824766

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142993764

1 SubmittersRCV002003611

NM_000512.5(GALNS):c.121-1G>T

SNV
Germline

Chr16:88842830

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1312522259

1 SubmittersRCV001963270

NM_000512.5(GALNS):c.902G>A (p.Gly301Asp)

SNV
Germline

Chr16:88832098

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_776715466

1 SubmittersRCV002023736

NM_000512.5(GALNS):c.338T>C (p.Ile113Thr)

SNV
Germline

Chr16:88841076

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_979373729

1 SubmittersRCV002021121

NM_000512.5(GALNS):c.833C>T (p.Ala278Val)

SNV
Germline

Chr16:88835278

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141544939

2 SubmittersRCV002112411 RCV002261451

NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)

SNV
Germline

Chr16:88835320

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143001182

1 SubmittersRCV002227893

NM_000512.5(GALNS):c.1445C>T (p.Ala482Val)

SNV
Germline

Chr16:88818044

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_1909820489

1 SubmittersRCV002227905

NM_000512.5(GALNS):c.1243-2A>C

SNV
Germline

Chr16:88822712

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2142992422

1 SubmittersRCV002249051

NM_000512.5(GALNS):c.472G>T (p.Glu158Ter)

SNV
Germline

Chr16:88837716

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

rs_2143002428

1 SubmittersRCV002251196

NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)

SNV
Germline

Chr16:88841040

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

rs_746949976

3 SubmittersRCV002271793 RCV003445156

NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)

SNV
Germline

Chr16:88818016

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV002843728

NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)

SNV
Germline

Chr16:88826818

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV002903566

NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)

SNV
Germline

Chr16:88814521

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003022304

NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)

SNV
Germline

Chr16:88837703

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003030563

NM_000512.5(GALNS):c.1242+1G>C

SNV
Germline

Chr16:88824766

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003046821

NM_000512.5(GALNS):c.177G>A (p.Leu59=)

SNV
Germline

Chr16:88842773

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003135318

NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)

SNV
Germline

Chr16:88826820

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003145782

NM_000512.5(GALNS):c.1483-2A>C

SNV
Germline

Chr16:88814527

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003222545

NM_000512.5(GALNS):c.1365-2A>G

SNV
Germline

Chr16:88818126

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

2 SubmittersRCV003313762

NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)

SNV
Germline

Chr16:88842763

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003318423

NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)

SNV
Germline

Chr16:88818102

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003388659

NM_000512.5(GALNS):c.185T>G (p.Met62Arg)

SNV
Germline

Chr16:88842765

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003496146

NM_000512.5(GALNS):c.1482+2T>C

SNV
Germline

Chr16:88818005

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003495403

NM_000512.5(GALNS):c.364C>T (p.Gln122Ter)

SNV
Germline

Chr16:88841050

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003497028

NM_000512.5(GALNS):c.337A>G (p.Ile113Val)

SNV
Germline

Chr16:88841077

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003497052

NM_000512.5(GALNS):c.570T>G (p.Tyr190Ter)

SNV
Germline

Chr16:88836264

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003497273

NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)

SNV
Germline

Chr16:88835842

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003494644

NM_000512.5(GALNS):c.716T>G (p.Val239Gly)

SNV
Germline

Chr16:88835767

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003495045

NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)

SNV
Germline

Chr16:88835349

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003495861

NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)

SNV
Germline

Chr16:88842720

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003495065

NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)

SNV
Germline

Chr16:88841041

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003495774

NM_000512.5(GALNS):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:88856876

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003496794

NM_000512.5(GALNS):c.552G>A (p.Trp184Ter)

SNV
Germline

Chr16:88837636

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003599097

NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)

SNV
Germline

Chr16:88822614

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003599212

NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)

SNV
Germline

Chr16:88837678

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003599539

NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)

SNV
Germline

Chr16:88835260

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003599563

NM_000512.5(GALNS):c.685T>C (p.Tyr229His)

SNV
Germline

Chr16:88835798

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003599704

NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)

SNV
Germline

Chr16:88841922

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003597598

NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)

SNV
Germline

Chr16:88826823

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003597555

NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)

SNV
Germline

Chr16:88822620

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003597585

NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)

SNV
Germline

Chr16:88835783

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003598651

NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)

SNV
Germline

Chr16:88814520

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003842319

NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)

SNV
Germline

Chr16:88836233

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003849725

NM_000512.5(GALNS):c.566+1G>A

SNV
Germline

Chr16:88837621

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003870117

NM_000512.5(GALNS):c.898+2T>A

SNV
Germline

Chr16:88835211

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003883387

NM_000512.5(GALNS):c.1139+2T>C

SNV
Germline

Chr16:88826700

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV003883388

NM_000512.5(GALNS):c.283A>G (p.Asn95Asp)

SNV
Germline

Chr16:88841933

Pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV004527541

NM_000512.5(GALNS):c.301A>G (p.Asn101Asp)

SNV
Germline

Chr16:88841915

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV004577257

NM_000512.5(GALNS):c.290T>C (p.Phe97Ser)

SNV
Germline

Chr16:88841926

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Single Submitter

1 SubmittersRCV004577258