Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)	SNV Germline	Chr12:101780152	Likely pathogenic	Mucolipidosis III alpha/beta, atypical Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA115740	rs_281865025	5 SubmittersRCV000002888 RCV000031990 RCV001377361 RCV001731275 RCV001831508
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter)	SNV Germline	Chr12:101789951	Pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA340007	rs_137852896	3 SubmittersRCV000002890 RCV001380992
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)	SNV Germline	Chr12:101753409	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided Mucolipidosis GNPTAB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340009	rs_137852897	10 SubmittersRCV000002892 RCV000002891 RCV000664622 RCV000723447 RCV001193438 RCV003398424
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter)	SNV Germline	Chr12:101760106	Pathogenic	Mucolipidosis type II	No Assertion Criteria Provided	CA340011	rs_137852898	2 SubmittersRCV000002893
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter)	SNV Germline	Chr12:101764236	Pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA340014	rs_137852899	3 SubmittersRCV000002895 RCV005222663
NM_024312.5(GNPTAB):c.2715+1G>A	SNV Germline	Chr12:101764201	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis Mucolipidosis type II Condition: not provided GNPTAB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA343072	rs_281865031	11 SubmittersRCV000031976 RCV000664616 RCV001193439 RCV001274138 RCV001572905 RCV004528068
NM_024312.5(GNPTAB):c.3335+1G>A	SNV Germline	Chr12:101757571	Pathogenic	Mucolipidosis type II Mucolipidosis Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA340017	rs_34940801	9 SubmittersRCV000002901 RCV001328325 RCV001781170 RCV001381208 RCV005406720
NM_024312.5(GNPTAB):c.3335+6T>G	SNV Germline	Chr12:101757566	Pathogenic	Pseudo-Hurler polydystrophy Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252413	rs_34788341	8 SubmittersRCV000002902 RCV000031982 RCV000032336 RCV000665095 RCV001781171
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)	SNV Germline	Chr12:101830666	Pathogenic	Pseudo-Hurler polydystrophy Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252414	rs_34159654	5 SubmittersRCV000002903 RCV000031965 RCV000669013
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)	SNV Germline	Chr12:101770185	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	No Assertion Criteria Provided	CA252415	rs_137852900	2 SubmittersRCV000002904 RCV000002905
NM_024312.5(GNPTAB):c.118-2A>G	SNV Germline	Chr12:101796764	Pathogenic/Likely pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343060	rs_281865023	3 SubmittersRCV000031966 RCV001852635 RCV003137548
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)	SNV Germline	Chr12:101770109	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA343061	rs_281865026	6 SubmittersRCV000031967 RCV000820177 RCV001831620
NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter)	SNV Unknown	Chr12:101764384	Pathogenic	Mucolipidosis type II	No Assertion Criteria Provided	CA343068	rs_281865028	1 SubmittersRCV000031973
NM_024312.5(GNPTAB):c.3249+1G>A	SNV Unknown	Chr12:101760029	Pathogenic	Mucolipidosis type II	No Assertion Criteria Provided	CA343076	rs_281865012	1 SubmittersRCV000031980
NM_024312.5(GNPTAB):c.3434+1G>A	SNV Unknown	Chr12:101757211	Pathogenic	Mucolipidosis type II	No Assertion Criteria Provided	CA343078	rs_281865036	1 SubmittersRCV000031983
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)	SNV Germline	Chr12:101749181	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343081	rs_35333334	8 SubmittersRCV000031986 RCV000032344 RCV000670953 RCV001193437 RCV003488353
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)	SNV Germline	Chr12:101786014	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA343083	rs_34946266	5 SubmittersRCV000031988 RCV000632919 RCV001729354
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)	SNV Germline	Chr12:101771097	Pathogenic	Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA343085	rs_35878526	4 SubmittersRCV000031991 RCV001214189 RCV001826527
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)	SNV Germline	Chr12:101770519	Pathogenic	Pseudo-Hurler polydystrophy Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA223747	rs_281864969	7 SubmittersRCV000032282 RCV000180686 RCV000668032 RCV001826535
NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln)	SNV Germline	Chr12:101770518	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA343331	rs_281864970	2 SubmittersRCV000032283 RCV001852647
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu)	SNV Germline	Chr12:101770518	Likely pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA343332	rs_281864970	3 SubmittersRCV000032284 RCV001246458 RCV005237450
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)	SNV Germline	Chr12:101770429	Pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA343335	rs_200646278	7 SubmittersRCV000032286 RCV000669478 RCV000780317
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)	SNV Germline	Chr12:101770182	Pathogenic	Mucolipidosis type II Condition: not provided Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy GNPTAB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA223750	rs_397507447	9 SubmittersRCV000032287 RCV000790711 RCV000983986 RCV001038168 RCV004528150
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr)	SNV Germline	Chr12:101770097	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343340	rs_281864973	4 SubmittersRCV000032291 RCV002247409 RCV001852648 RCV004589525
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)	SNV Germline	Chr12:101796744	Pathogenic	Mucolipidosis type II Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA343345	rs_78347057	8 SubmittersRCV000032296 RCV000760392 RCV000673315
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)	SNV Germline	Chr12:101766189	Pathogenic/Likely pathogenic	Pseudo-Hurler polydystrophy Juvenile osteochondrosis of spine Legg-Calve-Perthes disease Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA343350	rs_281864980	4 SubmittersRCV000032300 RCV000626961 RCV000762881
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter)	SNV Germline	Chr12:101766184	Pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA343352	rs_281864981	2 SubmittersRCV000032301 RCV001380786
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)	SNV Germline	Chr12:101765158	Pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA343358	rs_281864982	5 SubmittersRCV000032305 RCV000670808 RCV001778671
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu)	SNV Germline	Chr12:101790019	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA343374	rs_281864953	2 SubmittersRCV000032318 RCV002514130
NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter)	SNV Germline	Chr12:101764253	Pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA343377	rs_281864998	2 SubmittersRCV000032321 RCV005007921
NM_024312.5(GNPTAB):c.2715+2T>G	SNV Germline	Chr12:101764200	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343381	rs_281865001	6 SubmittersRCV000032324 RCV000666563 RCV001804753 RCV001588838
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr)	SNV Germline	Chr12:101761613	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA343383	rs_281865004	2 SubmittersRCV000032326 RCV001852649
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)	SNV Germline	Chr12:101761171	Pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA343389	rs_281865009	6 SubmittersRCV000032330 RCV000667295 RCV000780316 RCV002288528
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter)	SNV Germline	Chr12:101757236	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343397	rs_142065232	6 SubmittersRCV000032337 RCV000983987 RCV001044478 RCV003137550
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr)	SNV Germline	Chr12:101830632	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA343407	rs_281864947	2 SubmittersRCV000032348 RCV003764648
NM_024312.5(GNPTAB):c.637-1G>A	SNV Germline	Chr12:101780287	Likely pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA343412	rs_281864962	2 SubmittersRCV000032352 RCV001852651
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly)	SNV Germline	Chr12:101761209	Likely pathogenic	Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA344273	rs_281865007	5 SubmittersRCV000034157 RCV001852693 RCV003226172
NM_024312.5(GNPTAB):c.3336-1G>C	SNV Germline	Chr12:101757311	Pathogenic/Likely pathogenic	Mucolipidosis type II Mucolipidosis Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA344275	rs_397507562	4 SubmittersRCV000034158 RCV001175027 RCV001852694
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)	SNV Germline	Chr12:101753376	Conflicting classifications of pathogenicity	Condition: not provided not specified Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA149257	rs_137853825	9 SubmittersRCV000058936 RCV000082193 RCV001110621 RCV001084285 RCV001110620
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter)	SNV Germline	Chr12:101768147	Pathogenic	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA223752	rs_398124397	2 SubmittersRCV000174163 RCV002513847
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)	SNV Germline	Chr12:101765143	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II not specified Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA267599	rs_149390820	8 SubmittersRCV000087103 RCV001110795 RCV002228331 RCV003332114 RCV002514535
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp)	SNV Germline	Chr12:101764563	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy not specified Mucolipidosis type II	Criteria Provided Conflicting Classifications	CA267601	rs_144060383	3 SubmittersRCV000087104 RCV003226196 RCV004566987
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)	SNV Germline	Chr12:101770161	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA239360	rs_112543062	3 SubmittersRCV000173897 RCV000449633
NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter)	SNV Germline	Chr12:101786206	Pathogenic	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA275310	rs_774506925	3 SubmittersRCV000178995 RCV001386037 RCV004800319
NM_024312.5(GNPTAB):c.3250-2A>G	SNV Germline	Chr12:101757659	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA10576341	rs_875989952	2 SubmittersRCV000211681 RCV001171546 RCV000671022
NM_024312.5(GNPTAB):c.3335+14G>A	SNV Germline	Chr12:101757558	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy not specified Mucolipidosis type II Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746193	rs_141927805	4 SubmittersRCV000286853 RCV000247757 RCV000325410 RCV000675286 RCV002058326
NM_024312.5(GNPTAB):c.630C>T (p.Gly210=)	SNV Germline	Chr12:101780563	Conflicting classifications of pathogenicity	not specified Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA10587139	rs_886038684	2 SubmittersRCV000252236 RCV001112852 RCV001112853
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)	SNV Germline	Chr12:101786083	Conflicting classifications of pathogenicity	Condition: not provided Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6746871	rs_143907628	6 SubmittersRCV000333955 RCV001110169 RCV000765037 RCV001114209 RCV002519075
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp)	SNV Germline	Chr12:101766274	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy Pseudo-Hurler polydystrophy Mucolipidosis type II Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6746610	rs_145586576	6 SubmittersRCV000381606 RCV000765036 RCV001114129 RCV001114130 RCV002519076
NM_024312.5(GNPTAB):c.3114C>T (p.His1038=)	SNV Germline	Chr12:101761148	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Conflicting Classifications	CA6746266	rs_148918729	3 SubmittersRCV000365335 RCV001085683 RCV001276845
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)	SNV Germline	Chr12:101761575	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746323	rs_555336070	3 SubmittersRCV000322774 RCV000376997 RCV000880925
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)	SNV Germline	Chr12:101764292	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy GNPTAB-related disorder Condition: not provided Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746399	rs_141529327	5 SubmittersRCV000279073 RCV004544525 RCV005243188 RCV000375827 RCV000958665
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)	SNV Germline	Chr12:101764889	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746485	rs_192607073	4 SubmittersRCV000308303 RCV000360808 RCV004584667 RCV000969252
NM_024312.5(GNPTAB):c.54T>C (p.Tyr18=)	SNV Germline	Chr12:101830622	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6747023	rs_749134354	2 SubmittersRCV000282530 RCV000335266 RCV001434627
NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln)	SNV Germline	Chr12:101747225	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Conflicting Classifications	CA6746055	rs_150841760	3 SubmittersRCV000298245 RCV000891973 RCV000403989
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)	SNV Germline	Chr12:101753458	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746130	rs_201592854	3 SubmittersRCV000289094 RCV000383475 RCV000918455
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=)	SNV Germline	Chr12:101760063	Conflicting classifications of pathogenicity	Mucolipidosis type II GNPTAB-related disorder Pseudo-Hurler polydystrophy not specified Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746232	rs_61935741	5 SubmittersRCV000369475 RCV004544524 RCV000402774 RCV000588391 RCV000967691
NM_024312.5(GNPTAB):c.1269C>T (p.His423=)	SNV Germline	Chr12:101770036	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy GNPTAB-related disorder	Criteria Provided Conflicting Classifications	CA6746675	rs_111863978	3 SubmittersRCV000260636 RCV000332056 RCV000913790 RCV004537729
NM_024312.5(GNPTAB):c.117+15C>T	SNV Germline	Chr12:101830544	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA10636184	rs_886048854	2 SubmittersRCV000340974 RCV000406836 RCV003765803
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)	SNV Germline	Chr12:101770150	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746690	rs_754258764	3 SubmittersRCV000292475 RCV000388997 RCV001520993
NM_024312.5(GNPTAB):c.1113+12T>G	SNV Germline	Chr12:101770394	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746716	rs_757949849	2 SubmittersRCV000291384 RCV000383405 RCV003765802
NM_024312.5(GNPTAB):c.348G>A (p.Thr116=)	SNV Germline	Chr12:101788565	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746908	rs_145244231	3 SubmittersRCV000271090 RCV000368079 RCV000899459
NM_024312.5(GNPTAB):c.42G>C (p.Leu14=)	SNV Germline	Chr12:101830634	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6747024	rs_376257286	3 SubmittersRCV000313903 RCV000406859 RCV000933152
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=)	SNV Germline	Chr12:101764418	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II GNPTAB-related disorder Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746422	rs_77410031	5 SubmittersRCV000296241 RCV000349372 RCV004537727 RCV004808676 RCV000973976
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)	SNV Germline	Chr12:101786070	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746868	rs_371813268	3 SubmittersRCV000298346 RCV000369409 RCV000941657
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met)	SNV Germline	Chr12:101764576	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746445	rs_183435240	4 SubmittersRCV000421294 RCV001114039 RCV001114040 RCV002059848
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr)	SNV Germline	Chr12:101764798	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746472	rs_376620571	4 SubmittersRCV000442816 RCV001828455 RCV002526362
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser)	SNV Unknown	Chr12:101753399	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA16609422	rs_1060499688	1 SubmittersRCV000449510
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe)	SNV Unknown	Chr12:101753435	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA16609423	rs_1060499689	1 SubmittersRCV000449550
NM_024312.5(GNPTAB):c.3336-1G>A	SNV Unknown	Chr12:101757311	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA501186	rs_397507562	1 SubmittersRCV000449614
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)	SNV Germline	Chr12:101761306	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA6746287	rs_769587233	7 SubmittersRCV000449553 RCV003221982 RCV002469150
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn)	SNV Germline	Chr12:101766103	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6746584	rs_750240374	2 SubmittersRCV000449579
NM_024312.5(GNPTAB):c.1408+1G>T	SNV Germline	Chr12:101768036	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA16609432	rs_1060499680	3 SubmittersRCV000449512 RCV001420190
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile)	SNV Unknown	Chr12:101786012	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA6746857	rs_751953529	1 SubmittersRCV000449605
NM_024312.5(GNPTAB):c.1053C>T (p.Asn351=)	SNV Germline	Chr12:101770466	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746724	rs_749261391	2 SubmittersRCV000594691 RCV002062006
NM_024312.5(GNPTAB):c.3603-1G>A	SNV Germline	Chr12:101749192	Pathogenic	Mucolipidosis Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA242444623	rs_35576380	2 SubmittersRCV000612152 RCV001860237
NM_024312.5(GNPTAB):c.100G>C (p.Ala34Pro)	SNV Unknown	Chr12:101830576	Likely pathogenic	Mucolipidosis type II	Criteria Provided Single Submitter	CA386486903	rs_1555277061	1 SubmittersRCV000626103
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)	SNV Germline	Chr12:101765157	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA386299869	rs_143788461	4 SubmittersRCV000666195 RCV003235335
NM_024312.5(GNPTAB):c.771+2T>A	SNV Unknown	Chr12:101780150	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	No Assertion Criteria Provided	CA386304301	rs_1555271215	1 SubmittersRCV000668223
NM_024312.5(GNPTAB):c.204-1G>C	SNV Unknown	Chr12:101790058	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	No Assertion Criteria Provided	CA386305593	rs_748389002	1 SubmittersRCV000672924
NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter)	SNV Unknown	Chr12:101749191	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	No Assertion Criteria Provided	CA386291852	rs_1555267839	1 SubmittersRCV000674030
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter)	SNV Unknown	Chr12:101830637	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	No Assertion Criteria Provided	CA386487032	rs_1555277081	1 SubmittersRCV000669442
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)	SNV Germline	Chr12:101753403	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis	Criteria Provided Single Submitter	CA386292209	rs_1481471124	4 SubmittersRCV000673576 RCV001830458 RCV003984845
NM_024312.5(GNPTAB):c.933+1G>T	SNV Germline	Chr12:101770995	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386303413	rs_1327876395	2 SubmittersRCV000669825
NM_024312.5(GNPTAB):c.771+1G>C	SNV Unknown	Chr12:101780151	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	No Assertion Criteria Provided	CA386304303	rs_1555271217	1 SubmittersRCV000673014
NM_024312.5(GNPTAB):c.366-2A>G	SNV Unknown	Chr12:101786219	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	No Assertion Criteria Provided	CA386305213	rs_1555271868	1 SubmittersRCV000673062
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser)	SNV Germline	Chr12:101765055	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746516	rs_146476305	4 SubmittersRCV000675288 RCV001110789 RCV001110790 RCV002060831
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)	SNV Germline	Chr12:101766281	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II Pseudo-Hurler polydystrophy GNPTAB-related disorder	Criteria Provided Conflicting Classifications	CA6746611	rs_775742250	4 SubmittersRCV000675292 RCV001443181 RCV004544934
NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter)	SNV Germline	Chr12:101771154	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386303769	rs_1566078120	2 SubmittersRCV003768421 RCV005614446
NM_024312.5(GNPTAB):c.203+2T>C	SNV Germline	Chr12:101796675	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386305633	rs_1594242785	2 SubmittersRCV000796491 RCV001274644
NM_024312.5(GNPTAB):c.117+1G>T	SNV Germline	Chr12:101830558	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386486861	rs_1324141092	1 SubmittersRCV000816112
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr)	SNV Germline	Chr12:101766270	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6746607	rs_149718548	5 SubmittersRCV000968156 RCV001112784 RCV001114128 RCV003392711
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)	SNV Germline	Chr12:101830606	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6747018	rs_141329633	4 SubmittersRCV000967688 RCV001112931 RCV001112932 RCV003332274
NM_024312.5(GNPTAB):c.1800C>T (p.Leu600=)	SNV Germline	Chr12:101765117	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Pseudo-Hurler polydystrophy Mucolipidosis type II GNPTAB-related disorder	Criteria Provided Conflicting Classifications	CA6746526	rs_534858651	3 SubmittersRCV000897578 RCV001110793 RCV001110794 RCV004541862
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=)	SNV Germline	Chr12:101796706	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Conflicting Classifications	CA6746984	rs_148948607	3 SubmittersRCV000899421 RCV001110934 RCV001110935
NM_024312.5(GNPTAB):c.3456C>A (p.Asp1152Glu)	SNV Unknown	Chr12:101753518	Likely pathogenic	Mucolipidosis type II	Criteria Provided Single Submitter	CA386292777	rs_1594204203	1 SubmittersRCV000988896
NM_024312.5(GNPTAB):c.2991T>G (p.Tyr997Ter)	SNV Germline	Chr12:101761271	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386295885	rs_1952988471	1 SubmittersRCV001067360
NM_024312.5(GNPTAB):c.2404C>T (p.Gln802Ter)	SNV Germline	Chr12:101764513	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA386298316	rs_1310955639	4 SubmittersRCV001040909 RCV003984853 RCV005253687
NM_024312.5(GNPTAB):c.1247G>A (p.Trp416Ter)	SNV Germline	Chr12:101770058	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386302457	rs_1201536920	1 SubmittersRCV001047505
NM_024312.5(GNPTAB):c.1409-2A>G	SNV Germline	Chr12:101766296	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA386301470	rs_1953092495	2 SubmittersRCV001070928 RCV002283521
NM_024312.5(GNPTAB):c.637-6T>G	SNV Germline	Chr12:101780292	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA6746819	rs_750793712	3 SubmittersRCV001057819 RCV001274642 RCV004782631
NM_024312.5(GNPTAB):c.3435G>A (p.Arg1145=)	SNV Germline	Chr12:101753539	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA481317756	rs_1451696033	3 SubmittersRCV001112606 RCV001112607 RCV002556199 RCV005348322
NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=)	SNV Germline	Chr12:101761751	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA481576851	rs_1953000723	2 SubmittersRCV001110712 RCV001110711 RCV003769122
NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn)	SNV Germline	Chr12:101765091	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II Pseudo-Hurler polydystrophy GNPTAB-related disorder	Criteria Provided Conflicting Classifications	CA6746522	rs_138811990	4 SubmittersRCV001110791 RCV001110792 RCV002069786 RCV004545066
NM_024312.5(GNPTAB):c.1023A>G (p.Pro341=)	SNV Germline	Chr12:101770496	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy GNPTAB-related disorder Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746731	rs_750876420	3 SubmittersRCV001110098 RCV001110860 RCV004545065 RCV002558103
NM_024312.5(GNPTAB):c.381G>A (p.Glu127=)	SNV Germline	Chr12:101786202	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA481326335	rs_1185319004	2 SubmittersRCV001110173 RCV001110172 RCV002067799
NM_024312.5(GNPTAB):c.30C>G (p.Thr10=)	SNV Germline	Chr12:101830646	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA481347141	rs_1871323193	2 SubmittersRCV001114292 RCV001114291 RCV002556234
NM_024312.5(GNPTAB):c.3250-8T>C	SNV Germline	Chr12:101757665	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA1139662824	rs_1952924076	2 SubmittersRCV001113940 RCV001113941 RCV001504682
NM_024312.5(GNPTAB):c.3250-12A>G	SNV Germline	Chr12:101757669	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746213	rs_745938838	2 SubmittersRCV001113942 RCV001113943 RCV002069832
NM_024312.5(GNPTAB):c.1114-14G>A	SNV Germline	Chr12:101770205	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746698	rs_776493814	2 SubmittersRCV001110096 RCV001110097 RCV003769120
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter)	SNV Germline	Chr12:101753372	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386292109	rs_1952850511	2 SubmittersRCV001175111
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His)	SNV Germline	Chr12:101761305	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA6746285	rs_776312538	5 SubmittersRCV001175109 RCV003117804 RCV004813156
NM_024312.5(GNPTAB):c.571+4A>T	SNV Germline	Chr12:101786008	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	No Assertion Criteria Provided	CA1139662836	rs_1868618470	1 SubmittersRCV001175113
NM_024312.5(GNPTAB):c.322A>T (p.Arg108Ter)	SNV Germline	Chr12:101789939	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA6746940	rs_770176191	1 SubmittersRCV001212095
NM_024312.5(GNPTAB):c.3136-1G>A	SNV Germline	Chr12:101760144	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386294983	rs_1952971551	1 SubmittersRCV001215870
NM_024312.5(GNPTAB):c.2915+1G>A	SNV Germline	Chr12:101761563	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386296075	rs_1952995034	1 SubmittersRCV001219461
NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys)	SNV Germline	Chr12:101764570	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II Condition: not provided	Criteria Provided Conflicting Classifications	CA6746444	rs_765924360	4 SubmittersRCV001246676 RCV001279466 RCV003481029
NM_024312.5(GNPTAB):c.1955T>G (p.Leu652Ter)	SNV Germline	Chr12:101764962	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386299313	rs_1953064841	1 SubmittersRCV001242723
NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter)	SNV Germline	Chr12:101753433	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA386292354	rs_1257678960	2 SubmittersRCV001263572
NM_024312.5(GNPTAB):c.3082A>T (p.Arg1028Ter)	SNV Unknown	Chr12:101761180	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386295195	rs_1952986419	1 SubmittersRCV001263573
NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter)	SNV Germline	Chr12:101761246	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA386295599	rs_1952987753	2 SubmittersRCV001263574
NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter)	SNV Germline	Chr12:101761571	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA386296095	rs_1952995212	2 SubmittersRCV001263859
NM_024312.5(GNPTAB):c.2761A>T (p.Lys921Ter)	SNV Unknown	Chr12:101761718	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386296415	rs_1952999818	1 SubmittersRCV001263860
NM_024312.5(GNPTAB):c.2731A>T (p.Lys911Ter)	SNV Unknown	Chr12:101761748	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386296486	rs_1953000660	1 SubmittersRCV001263861
NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter)	SNV Germline	Chr12:101764235	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA386297461	rs_779927550	3 SubmittersRCV001263862 RCV004690040
NM_024312.5(GNPTAB):c.2251C>T (p.Gln751Ter)	SNV Unknown	Chr12:101764666	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386298659	rs_1566073911	1 SubmittersRCV001263863
NM_024312.5(GNPTAB):c.2198C>A (p.Ser733Ter)	SNV Unknown	Chr12:101764719	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386298779	rs_1953059037	1 SubmittersRCV001263864
NM_024312.5(GNPTAB):c.2102C>A (p.Ser701Ter)	SNV Unknown	Chr12:101764815	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386298989	rs_1953060930	1 SubmittersRCV001263865
NM_024312.5(GNPTAB):c.1882C>T (p.Gln628Ter)	SNV Unknown	Chr12:101765035	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386299487	rs_1953067028	1 SubmittersRCV001263866
NM_024312.5(GNPTAB):c.1780A>T (p.Lys594Ter)	SNV Unknown	Chr12:101765137	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386299830	rs_1953069110	1 SubmittersRCV001264025
NM_024312.5(GNPTAB):c.1633A>T (p.Lys545Ter)	SNV Unknown	Chr12:101765284	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386300146	rs_1953073126	1 SubmittersRCV001264026
NM_024312.5(GNPTAB):c.1492G>T (p.Gly498Ter)	SNV Unknown	Chr12:101766211	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386301289	rs_1953090856	1 SubmittersRCV001264027
NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter)	SNV Germline	Chr12:101770526	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA386303265	rs_1953155445	2 SubmittersRCV001264028
NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter)	SNV Germline	Chr12:101771049	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA386303531	rs_1953165554	2 SubmittersRCV001264029
NM_024312.5(GNPTAB):c.712A>T (p.Lys238Ter)	SNV Unknown	Chr12:101780211	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386304439	rs_1953321100	1 SubmittersRCV001264030
NM_024312.5(GNPTAB):c.680T>A (p.Leu227Ter)	SNV Unknown	Chr12:101780243	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386304510	rs_1953321606	1 SubmittersRCV001264031
NM_024312.5(GNPTAB):c.635T>A (p.Leu212Ter)	SNV Unknown	Chr12:101780558	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386304622	rs_1953326710	1 SubmittersRCV001264032
NM_024312.5(GNPTAB):c.598A>T (p.Lys200Ter)	SNV Unknown	Chr12:101780595	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386304706	rs_1953327561	1 SubmittersRCV001264358
NM_024312.5(GNPTAB):c.542C>G (p.Ser181Ter)	SNV Unknown	Chr12:101786041	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386304831	rs_756660023	1 SubmittersRCV001264359
NM_024312.5(GNPTAB):c.295C>T (p.Gln99Ter)	SNV Unknown	Chr12:101789966	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386305394	rs_1868886361	1 SubmittersRCV001264360
NM_024312.5(GNPTAB):c.184G>T (p.Gly62Ter)	SNV Unknown	Chr12:101796696	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386305681	rs_1869312458	1 SubmittersRCV001264361
NM_024312.5(GNPTAB):c.118-1G>A	SNV Germline	Chr12:101796763	Pathogenic/Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis	Criteria Provided Multiple Submitters No Conflicts	CA386305837	rs_1301743166	3 SubmittersRCV001380993 RCV003984858
NM_024312.5(GNPTAB):c.2304A>C (p.Lys768Asn)	SNV Germline	Chr12:101764613	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Inborn genetic diseases Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA6746451	rs_558911370	3 SubmittersRCV001563984 RCV001563985 RCV003264061 RCV002072151
NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp)	SNV Germline	Chr12:101830559	Conflicting classifications of pathogenicity	Condition: not provided Mucolipidosis type II	Criteria Provided Conflicting Classifications	CA6747011	rs_765682282	2 SubmittersRCV001764819 RCV002246474
NM_024312.5(GNPTAB):c.1567T>C (p.Cys523Arg)	SNV Germline	Chr12:101766136	Pathogenic	Condition: not provided Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA386301117	rs_2137119014	2 SubmittersRCV001783391 RCV005622125
NM_024312.5(GNPTAB):c.1612+1G>A	SNV Germline	Chr12:101766090	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386301012	rs_1566075180	1 SubmittersRCV001974050
NM_024312.5(GNPTAB):c.25C>T (p.Gln9Ter)	SNV Germline	Chr12:101830651	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386487061	rs_1871323854	1 SubmittersRCV001941726
NM_024312.5(GNPTAB):c.636+1G>A	SNV Germline	Chr12:101780556	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386304616	rs_746175107	1 SubmittersRCV001999085
NM_024312.5(GNPTAB):c.3602+2T>A	SNV Germline	Chr12:101753370	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386292102	rs_1952850476	1 SubmittersRCV001961515
NM_024312.5(GNPTAB):c.3034C>T (p.Gln1012Ter)	SNV Germline	Chr12:101761228	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386295489	rs_2137112043	1 SubmittersRCV001878033
NM_024312.5(GNPTAB):c.1071G>A (p.Trp357Ter)	SNV Germline	Chr12:101770448	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386303042	rs_2137124017	1 SubmittersRCV001953806
NM_024312.5(GNPTAB):c.1292T>A (p.Leu431Ter)	SNV Germline	Chr12:101768153	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386302116	rs_2137121384	1 SubmittersRCV001958222
NM_024312.5(GNPTAB):c.613C>T (p.Gln205Ter)	SNV Germline	Chr12:101780580	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA386304670	rs_1953327287	2 SubmittersRCV001958913 RCV002564400
NM_024312.5(GNPTAB):c.1284+1G>T	SNV Germline	Chr12:101770020	Pathogenic/Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA386302320	rs_1256349457	2 SubmittersRCV002021288
NM_024312.5(GNPTAB):c.323+1G>A	SNV Germline	Chr12:101789937	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386305325	rs_2137150067	1 SubmittersRCV002023411
NM_024312.5(GNPTAB):c.1186G>T (p.Glu396Ter)	SNV Germline	Chr12:101770119	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386302672	rs_1245543262	1 SubmittersRCV001903278
NM_024312.5(GNPTAB):c.280C>T (p.Gln94Ter)	SNV Germline	Chr12:101789981	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386305429	rs_1391863896	1 SubmittersRCV001922632
NM_024312.5(GNPTAB):c.2213C>A (p.Ser738Ter)	SNV Germline	Chr12:101764704	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386298747	rs_1298654156	1 SubmittersRCV002000101
NM_024312.5(GNPTAB):c.1114-2A>G	SNV Germline	Chr12:101770193	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386302901	rs_2137123738	1 SubmittersRCV002000281
NM_024312.5(GNPTAB):c.772-1G>C	SNV Germline	Chr12:101771158	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386303780	rs_2137125146	1 SubmittersRCV001995630
NM_024312.5(GNPTAB):c.571+1G>A	SNV Germline	Chr12:101786011	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386304771	rs_1412230289	1 SubmittersRCV001963898
NM_024312.5(GNPTAB):c.1624G>T (p.Glu542Ter)	SNV Germline	Chr12:101765293	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386300178	rs_2137118051	1 SubmittersRCV001946792
NM_024312.5(GNPTAB):c.3G>C (p.Met1Ile)	SNV Germline	Chr12:101830673	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA6747034	rs_752247255	1 SubmittersRCV001972386
NM_024312.5(GNPTAB):c.3098T>C (p.Leu1033Pro)	SNV Germline	Chr12:101761164	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386295154	rs_1594210754	1 SubmittersRCV002017047
NM_024312.5(GNPTAB):c.325G>T (p.Glu109Ter)	SNV Germline	Chr12:101788588	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA6746914	rs_377553632	1 SubmittersRCV001975245
NM_024312.5(GNPTAB):c.1881G>T (p.Met627Ile)	SNV Germline	Chr12:101765036	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA386299492	rs_757613660	2 SubmittersRCV002030761 RCV002548958
NM_024312.5(GNPTAB):c.445A>G (p.Ile149Val)	SNV Germline	Chr12:101786138	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA386305034	rs_141222937	2 SubmittersRCV002157188 RCV004976210
NM_024312.5(GNPTAB):c.59T>G (p.Leu20Arg)	SNV Germline	Chr12:101830617	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6747021	rs_769506610	2 SubmittersRCV002217747 RCV005250235
NM_024312.5(GNPTAB):c.3694-1G>A	SNV Germline	Chr12:101747242	Conflicting classifications of pathogenicity	not specified Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Conflicting Classifications	CA386291524	rs_1297022622	2 SubmittersRCV002222916 RCV005002804
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp)	SNV Germline	Chr12:101796678	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Mucolipidosis type II not specified	Criteria Provided Conflicting Classifications	CA6746982	rs_531738916	3 SubmittersRCV002290867 RCV003097737 RCV003120882
NM_024312.5(GNPTAB):c.998T>A (p.Leu333Ter)	SNV Unknown	Chr12:101770521	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386303255	rs_2547961437	1 SubmittersRCV002306760
NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)	SNV Germline	Chr12:101766224	Pathogenic/Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA386301319	rs_2547958737	2 SubmittersRCV002309718
NM_024312.5(GNPTAB):c.694G>T (p.Gly232Ter)	SNV Unknown	Chr12:101780229	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386304476	rs_2547967585	1 SubmittersRCV002308002
NM_024312.5(GNPTAB):c.2054C>A (p.Ser685Ter)	SNV Unknown	Chr12:101764863	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386299094	rs_2547957481	1 SubmittersRCV002309193
NM_024312.5(GNPTAB):c.1538G>A (p.Trp513Ter)	SNV Unknown	Chr12:101766165	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386301189	rs_2547958660	1 SubmittersRCV002307241
NM_024312.5(GNPTAB):c.724C>T (p.Gln242Ter)	SNV Unknown	Chr12:101780199	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386304411	rs_761467513	1 SubmittersRCV002307303
NM_024312.5(GNPTAB):c.745G>T (p.Glu249Ter)	SNV Unknown	Chr12:101780178	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386304363	rs_2547967537	1 SubmittersRCV002310098
NM_024312.5(GNPTAB):c.1154C>A (p.Ser385Ter)	SNV Unknown	Chr12:101770151	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386302781	rs_2547961071	1 SubmittersRCV002310203
NM_024312.5(GNPTAB):c.2991T>A (p.Tyr997Ter)	SNV Unknown	Chr12:101761271	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386295886	rs_1952988471	1 SubmittersRCV002310373
NM_024312.5(GNPTAB):c.2285T>A (p.Leu762Ter)	SNV Unknown	Chr12:101764632	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386298584	rs_758558970	1 SubmittersRCV002310515
NM_024312.5(GNPTAB):c.1212C>G (p.Tyr404Ter)	SNV Germline	Chr12:101770093	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA386302580	rs_1594218809	2 SubmittersRCV003058390 RCV005254692
NM_024312.5(GNPTAB):c.9C>G (p.Phe3Leu)	SNV Germline	Chr12:101830667	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6747031	rs_573282230	3 SubmittersRCV003061306 RCV003481383 RCV003274205
NM_024312.5(GNPTAB):c.1760G>A (p.Arg587Gln)	SNV Germline	Chr12:101765157	Conflicting classifications of pathogenicity	Mucolipidosis type II Pseudo-Hurler polydystrophy not specified	Criteria Provided Conflicting Classifications	CA242457138	rs_143788461	2 SubmittersRCV002664014 RCV004587446
NM_024312.5(GNPTAB):c.2701C>T (p.Gln901Ter)	SNV Germline	Chr12:101764216	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386297360	rs_2547956432	1 SubmittersRCV003112255
NM_024312.5(GNPTAB):c.933+1G>A	SNV Germline	Chr12:101770995	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA386303415	rs_1327876395	2 SubmittersRCV002685914
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)	SNV Germline	Chr12:101770161	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II not specified	Criteria Provided Conflicting Classifications	CA6746692	rs_112543062	2 SubmittersRCV002785624 RCV003331392
NM_024312.5(GNPTAB):c.3598G>T (p.Glu1200Ter)	SNV Germline	Chr12:101753376	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386292118	rs_137853825	1 SubmittersRCV002781126
NM_024312.5(GNPTAB):c.766A>T (p.Lys256Ter)	SNV Germline	Chr12:101780157	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386304315	rs_1288191896	1 SubmittersRCV002802168
NM_024312.5(GNPTAB):c.142C>T (p.Gln48Ter)	SNV Germline	Chr12:101796738	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386305779	rs_2137158804	1 SubmittersRCV002850917
NM_024312.5(GNPTAB):c.1471C>T (p.Gln491Ter)	SNV Germline	Chr12:101766232	Pathogenic/Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA386301338	rs_2547958752	2 SubmittersRCV002880995
NM_024312.5(GNPTAB):c.2305C>T (p.Gln769Ter)	SNV Germline	Chr12:101764612	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386298538	rs_1235685630	1 SubmittersRCV002913531
NM_024312.5(GNPTAB):c.2T>C (p.Met1Thr)	SNV Germline	Chr12:101830674	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386487109	rs_2547989679	1 SubmittersRCV002948700
NM_024312.5(GNPTAB):c.2849C>A (p.Ser950Ter)	SNV Germline	Chr12:101761630	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386296216	rs_1020172077	1 SubmittersRCV002948866
NM_024312.5(GNPTAB):c.527C>T (p.Pro176Leu)	SNV Germline	Chr12:101786056	Conflicting classifications of pathogenicity	Pseudo-Hurler polydystrophy Mucolipidosis type II Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6746865	rs_142302101	2 SubmittersRCV003002176 RCV004065251
NM_024312.5(GNPTAB):c.2467C>T (p.Gln823Ter)	SNV Germline	Chr12:101764450	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386298178	rs_2547956808	1 SubmittersRCV002994384
NM_024312.5(GNPTAB):c.2748C>G (p.Tyr916Ter)	SNV Germline	Chr12:101761731	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter	CA386296446	rs_143931833	1 SubmittersRCV003019192
NM_024312.5(GNPTAB):c.324-2A>G	SNV Germline	Chr12:101788591	Likely pathogenic	Mucolipidosis Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA386305319	rs_1364784378	2 SubmittersRCV003155744 RCV003778928
NM_024312.5(GNPTAB):c.2174T>A (p.Leu725Ter)	SNV Germline	Chr12:101764743	Pathogenic/Likely pathogenic	Mucolipidosis Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA242456643	rs_923732649	3 SubmittersRCV003226846 RCV003779818
NM_024312.5(GNPTAB):c.3335+5G>A	SNV Germline	Chr12:101757567	Likely pathogenic	Mucolipidosis type II	No Assertion Criteria Provided	CA2620427350	rs_1396473895	1 SubmittersRCV003984879
NM_024312.5(GNPTAB):c.1284+1G>A	SNV Germline	Chr12:101770020	Likely pathogenic	Mucolipidosis type II	No Assertion Criteria Provided	CA386302319	rs_1256349457	1 SubmittersRCV003984883
NM_024312.5(GNPTAB):c.572-2A>G	SNV Germline	Chr12:101780623	Likely pathogenic	Mucolipidosis type II	Criteria Provided Single Submitter	CA386304764	rs_2547967894	1 SubmittersRCV003447465
NM_024312.5(GNPTAB):c.1364C>T (p.Ala455Val)	SNV Germline	Chr12:101768081	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386301900	rs_2547959753	1 SubmittersRCV003797889
NM_024312.5(GNPTAB):c.2363T>A (p.Leu788Ter)	SNV Germline	Chr12:101764554	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386298408	rs_2547956980	1 SubmittersRCV003795919
NM_024312.5(GNPTAB):c.835G>T (p.Glu279Ter)	SNV Germline	Chr12:101771094	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II	Criteria Provided Single Submitter	CA386303638	rs_2547961923	2 SubmittersRCV003783598 RCV005616783
NM_024312.5(GNPTAB):c.1609C>T (p.Gln537Ter)	SNV Germline	Chr12:101766094	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386301021	rs_2547958587	1 SubmittersRCV003792873
NM_024312.5(GNPTAB):c.1113+1G>T	SNV Germline	Chr12:101770405	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386302907	rs_2547961279	1 SubmittersRCV003787846
NM_024312.5(GNPTAB):c.772-1G>T	SNV Germline	Chr12:101771158	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386303779	rs_2137125146	1 SubmittersRCV003808079
NM_024312.5(GNPTAB):c.1613-1G>C	SNV Germline	Chr12:101765305	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386300233	rs_2547958086	1 SubmittersRCV003806899
NM_024312.5(GNPTAB):c.2974C>T (p.Gln992Ter)	SNV Germline	Chr12:101761288	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386295925	rs_1594210932	1 SubmittersRCV003799919
NM_024312.5(GNPTAB):c.203+1G>A	SNV Germline	Chr12:101796676	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA6746980	rs_545989411	1 SubmittersRCV003809158
NM_024312.5(GNPTAB):c.2497G>T (p.Glu833Ter)	SNV Germline	Chr12:101764420	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386298111	rs_2547956774	1 SubmittersRCV003801480
NM_024312.5(GNPTAB):c.204-2A>G	SNV Germline	Chr12:101790059	Likely pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386305595	rs_2547972420	1 SubmittersRCV003807152
NM_024312.5(GNPTAB):c.2737C>T (p.Gln913Ter)	SNV Germline	Chr12:101761742	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386296474	rs_2547955024	1 SubmittersRCV003804873
NM_024312.5(GNPTAB):c.3595C>T (p.Gln1199Ter)	SNV Germline	Chr12:101753379	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386292125	rs_2547949681	1 SubmittersRCV003804892
NM_024312.5(GNPTAB):c.147C>G (p.Tyr49Ter)	SNV Germline	Chr12:101796733	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386305766	rs_2547975414	1 SubmittersRCV003802035
NM_024312.5(GNPTAB):c.1409-1G>A	SNV Germline	Chr12:101766295	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386301465	rs_2137119323	1 SubmittersRCV003802079
NM_024312.5(GNPTAB):c.3199C>T (p.Gln1067Ter)	SNV Germline	Chr12:101760080	Pathogenic	Pseudo-Hurler polydystrophy Mucolipidosis type II	Criteria Provided Single Submitter	CA386294711	rs_2547953413	1 SubmittersRCV003809889
NM_024312.5(GNPTAB):c.1342A>T (p.Lys448Ter)	SNV Germline	Chr12:101768103	Pathogenic	Mucolipidosis type II	Criteria Provided Single Submitter	CA386301964	rs_2547959783	1 SubmittersRCV003993709
NM_024312.5(GNPTAB):c.1383C>A (p.Cys461Ter)	SNV Germline	Chr12:101768062	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004797213
NM_024312.5(GNPTAB):c.2915+2T>C	SNV Germline	Chr12:101761562	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005004778
NM_024312.5(GNPTAB):c.1512C>A (p.Tyr504Ter)	SNV Germline	Chr12:101766191	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005004782
NM_024312.5(GNPTAB):c.1285-1G>A	SNV Germline	Chr12:101768161	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005006770
NM_024312.5(GNPTAB):c.366-1G>A	SNV Germline	Chr12:101786218	Likely pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005006773
NM_024312.5(GNPTAB):c.1A>T (p.Met1Leu)	SNV Germline	Chr12:101830675	Pathogenic	Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005219564
NM_024312.5(GNPTAB):c.63C>A (p.Tyr21Ter)	SNV Germline	Chr12:101830613	Pathogenic	Mucolipidosis type II	Criteria Provided Single Submitter			1 SubmittersRCV005603951
NM_024312.5(GNPTAB):c.1480C>T (p.Gln494Ter)	SNV Germline	Chr12:101766223	Likely pathogenic	Mucolipidosis type II	No Assertion Criteria Provided			1 SubmittersRCV005616221
NM_024312.5(GNPTAB):c.3602+2T>C	SNV Germline	Chr12:101753370	Likely pathogenic	Mucolipidosis type II	Criteria Provided Single Submitter			1 SubmittersRCV005622965

NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)

SNV
Germline

Chr12:101780152

Likely pathogenic

Mucolipidosis III alpha/beta, atypical
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA115740

rs_281865025

5 SubmittersRCV000002888 RCV000031990 RCV001377361 RCV001731275 RCV001831508

NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter)

SNV
Germline

Chr12:101789951

Pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA340007

rs_137852896

3 SubmittersRCV000002890 RCV001380992

NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)

SNV
Germline

Chr12:101753409

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided
Mucolipidosis
GNPTAB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340009

rs_137852897

10 SubmittersRCV000002892 RCV000002891 RCV000664622 RCV000723447 RCV001193438 RCV003398424

NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter)

SNV
Germline

Chr12:101760106

Pathogenic

Mucolipidosis type II

No Assertion Criteria Provided

CA340011

rs_137852898

2 SubmittersRCV000002893

NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter)

SNV
Germline

Chr12:101764236

Pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA340014

rs_137852899

3 SubmittersRCV000002895 RCV005222663

NM_024312.5(GNPTAB):c.2715+1G>A

SNV
Germline

Chr12:101764201

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis
Mucolipidosis type II
Condition: not provided
GNPTAB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA343072

rs_281865031

11 SubmittersRCV000031976 RCV000664616 RCV001193439 RCV001274138 RCV001572905 RCV004528068

NM_024312.5(GNPTAB):c.3335+1G>A

SNV
Germline

Chr12:101757571

Pathogenic

Mucolipidosis type II
Mucolipidosis
Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA340017

rs_34940801

9 SubmittersRCV000002901 RCV001328325 RCV001781170 RCV001381208 RCV005406720

NM_024312.5(GNPTAB):c.3335+6T>G

SNV
Germline

Chr12:101757566

Pathogenic

Pseudo-Hurler polydystrophy
Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252413

rs_34788341

8 SubmittersRCV000002902 RCV000031982 RCV000032336 RCV000665095 RCV001781171

NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)

SNV
Germline

Chr12:101830666

Pathogenic

Pseudo-Hurler polydystrophy
Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252414

rs_34159654

5 SubmittersRCV000002903 RCV000031965 RCV000669013

NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)

SNV
Germline

Chr12:101770185

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

No Assertion Criteria Provided

CA252415

rs_137852900

2 SubmittersRCV000002904 RCV000002905

NM_024312.5(GNPTAB):c.118-2A>G

SNV
Germline

Chr12:101796764

Pathogenic/Likely pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343060

rs_281865023

3 SubmittersRCV000031966 RCV001852635 RCV003137548

NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)

SNV
Germline

Chr12:101770109

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA343061

rs_281865026

6 SubmittersRCV000031967 RCV000820177 RCV001831620

NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter)

SNV
Unknown

Chr12:101764384

Pathogenic

Mucolipidosis type II

No Assertion Criteria Provided

CA343068

rs_281865028

1 SubmittersRCV000031973

NM_024312.5(GNPTAB):c.3249+1G>A

SNV
Unknown

Chr12:101760029

Pathogenic

Mucolipidosis type II

No Assertion Criteria Provided

CA343076

rs_281865012

1 SubmittersRCV000031980

NM_024312.5(GNPTAB):c.3434+1G>A

SNV
Unknown

Chr12:101757211

Pathogenic

Mucolipidosis type II

No Assertion Criteria Provided

CA343078

rs_281865036

1 SubmittersRCV000031983

NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)

SNV
Germline

Chr12:101749181

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343081

rs_35333334

8 SubmittersRCV000031986 RCV000032344 RCV000670953 RCV001193437 RCV003488353

NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)

SNV
Germline

Chr12:101786014

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA343083

rs_34946266

5 SubmittersRCV000031988 RCV000632919 RCV001729354

NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)

SNV
Germline

Chr12:101771097

Pathogenic

Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA343085

rs_35878526

4 SubmittersRCV000031991 RCV001214189 RCV001826527

NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)

SNV
Germline

Chr12:101770519

Pathogenic

Pseudo-Hurler polydystrophy
Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA223747

rs_281864969

7 SubmittersRCV000032282 RCV000180686 RCV000668032 RCV001826535

NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln)

SNV
Germline

Chr12:101770518

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA343331

rs_281864970

2 SubmittersRCV000032283 RCV001852647

NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu)

SNV
Germline

Chr12:101770518

Likely pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA343332

rs_281864970

3 SubmittersRCV000032284 RCV001246458 RCV005237450

NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr12:101770429

Pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA343335

rs_200646278

7 SubmittersRCV000032286 RCV000669478 RCV000780317

NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)

SNV
Germline

Chr12:101770182

Pathogenic

Mucolipidosis type II
Condition: not provided
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
GNPTAB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA223750

rs_397507447

9 SubmittersRCV000032287 RCV000790711 RCV000983986 RCV001038168 RCV004528150

NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr)

SNV
Germline

Chr12:101770097

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343340

rs_281864973

4 SubmittersRCV000032291 RCV002247409 RCV001852648 RCV004589525

NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)

SNV
Germline

Chr12:101796744

Pathogenic

Mucolipidosis type II
Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA343345

rs_78347057

8 SubmittersRCV000032296 RCV000760392 RCV000673315

NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)

SNV
Germline

Chr12:101766189

Pathogenic/Likely pathogenic

Pseudo-Hurler polydystrophy
Juvenile osteochondrosis of spine
Legg-Calve-Perthes disease
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA343350

rs_281864980

4 SubmittersRCV000032300 RCV000626961 RCV000762881

NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter)

SNV
Germline

Chr12:101766184

Pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA343352

rs_281864981

2 SubmittersRCV000032301 RCV001380786

NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)

SNV
Germline

Chr12:101765158

Pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA343358

rs_281864982

5 SubmittersRCV000032305 RCV000670808 RCV001778671

NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu)

SNV
Germline

Chr12:101790019

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA343374

rs_281864953

2 SubmittersRCV000032318 RCV002514130

NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter)

SNV
Germline

Chr12:101764253

Pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA343377

rs_281864998

2 SubmittersRCV000032321 RCV005007921

NM_024312.5(GNPTAB):c.2715+2T>G

SNV
Germline

Chr12:101764200

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343381

rs_281865001

6 SubmittersRCV000032324 RCV000666563 RCV001804753 RCV001588838

NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr)

SNV
Germline

Chr12:101761613

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA343383

rs_281865004

2 SubmittersRCV000032326 RCV001852649

NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)

SNV
Germline

Chr12:101761171

Pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA343389

rs_281865009

6 SubmittersRCV000032330 RCV000667295 RCV000780316 RCV002288528

NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter)

SNV
Germline

Chr12:101757236

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343397

rs_142065232

6 SubmittersRCV000032337 RCV000983987 RCV001044478 RCV003137550

NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr)

SNV
Germline

Chr12:101830632

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA343407

rs_281864947

2 SubmittersRCV000032348 RCV003764648

NM_024312.5(GNPTAB):c.637-1G>A

SNV
Germline

Chr12:101780287

Likely pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA343412

rs_281864962

2 SubmittersRCV000032352 RCV001852651

NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly)

SNV
Germline

Chr12:101761209

Likely pathogenic

Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA344273

rs_281865007

5 SubmittersRCV000034157 RCV001852693 RCV003226172

NM_024312.5(GNPTAB):c.3336-1G>C

SNV
Germline

Chr12:101757311

Pathogenic/Likely pathogenic

Mucolipidosis type II
Mucolipidosis
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344275

rs_397507562

4 SubmittersRCV000034158 RCV001175027 RCV001852694

NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)

SNV
Germline

Chr12:101753376

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA149257

rs_137853825

9 SubmittersRCV000058936 RCV000082193 RCV001110621 RCV001084285 RCV001110620

NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter)

SNV
Germline

Chr12:101768147

Pathogenic

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA223752

rs_398124397

2 SubmittersRCV000174163 RCV002513847

NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)

SNV
Germline

Chr12:101765143

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
not specified
Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA267599

rs_149390820

8 SubmittersRCV000087103 RCV001110795 RCV002228331 RCV003332114 RCV002514535

NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp)

SNV
Germline

Chr12:101764563

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
not specified
Mucolipidosis type II

Criteria Provided
Conflicting Classifications

CA267601

rs_144060383

3 SubmittersRCV000087104 RCV003226196 RCV004566987

NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)

SNV
Germline

Chr12:101770161

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA239360

rs_112543062

3 SubmittersRCV000173897 RCV000449633

NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter)

SNV
Germline

Chr12:101786206

Pathogenic

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA275310

rs_774506925

3 SubmittersRCV000178995 RCV001386037 RCV004800319

NM_024312.5(GNPTAB):c.3250-2A>G

SNV
Germline

Chr12:101757659

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA10576341

rs_875989952

2 SubmittersRCV000211681 RCV001171546 RCV000671022

NM_024312.5(GNPTAB):c.3335+14G>A

SNV
Germline

Chr12:101757558

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
not specified
Mucolipidosis type II
Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746193

rs_141927805

4 SubmittersRCV000286853 RCV000247757 RCV000325410 RCV000675286 RCV002058326

NM_024312.5(GNPTAB):c.630C>T (p.Gly210=)

SNV
Germline

Chr12:101780563

Conflicting classifications of pathogenicity

not specified
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA10587139

rs_886038684

2 SubmittersRCV000252236 RCV001112852 RCV001112853

NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)

SNV
Germline

Chr12:101786083

Conflicting classifications of pathogenicity

Condition: not provided
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6746871

rs_143907628

6 SubmittersRCV000333955 RCV001110169 RCV000765037 RCV001114209 RCV002519075

NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp)

SNV
Germline

Chr12:101766274

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6746610

rs_145586576

6 SubmittersRCV000381606 RCV000765036 RCV001114129 RCV001114130 RCV002519076

NM_024312.5(GNPTAB):c.3114C>T (p.His1038=)

SNV
Germline

Chr12:101761148

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Conflicting Classifications

CA6746266

rs_148918729

3 SubmittersRCV000365335 RCV001085683 RCV001276845

NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)

SNV
Germline

Chr12:101761575

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746323

rs_555336070

3 SubmittersRCV000322774 RCV000376997 RCV000880925

NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)

SNV
Germline

Chr12:101764292

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
GNPTAB-related disorder
Condition: not provided
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746399

rs_141529327

5 SubmittersRCV000279073 RCV004544525 RCV005243188 RCV000375827 RCV000958665

NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)

SNV
Germline

Chr12:101764889

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746485

rs_192607073

4 SubmittersRCV000308303 RCV000360808 RCV004584667 RCV000969252

NM_024312.5(GNPTAB):c.54T>C (p.Tyr18=)

SNV
Germline

Chr12:101830622

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6747023

rs_749134354

2 SubmittersRCV000282530 RCV000335266 RCV001434627

NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln)

SNV
Germline

Chr12:101747225

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Conflicting Classifications

CA6746055

rs_150841760

3 SubmittersRCV000298245 RCV000891973 RCV000403989

NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)

SNV
Germline

Chr12:101753458

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746130

rs_201592854

3 SubmittersRCV000289094 RCV000383475 RCV000918455

NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=)

SNV
Germline

Chr12:101760063

Conflicting classifications of pathogenicity

Mucolipidosis type II
GNPTAB-related disorder
Pseudo-Hurler polydystrophy
not specified
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746232

rs_61935741

5 SubmittersRCV000369475 RCV004544524 RCV000402774 RCV000588391 RCV000967691

NM_024312.5(GNPTAB):c.1269C>T (p.His423=)

SNV
Germline

Chr12:101770036

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
GNPTAB-related disorder

Criteria Provided
Conflicting Classifications

CA6746675

rs_111863978

3 SubmittersRCV000260636 RCV000332056 RCV000913790 RCV004537729

NM_024312.5(GNPTAB):c.117+15C>T

SNV
Germline

Chr12:101830544

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA10636184

rs_886048854

2 SubmittersRCV000340974 RCV000406836 RCV003765803

NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)

SNV
Germline

Chr12:101770150

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746690

rs_754258764

3 SubmittersRCV000292475 RCV000388997 RCV001520993

NM_024312.5(GNPTAB):c.1113+12T>G

SNV
Germline

Chr12:101770394

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746716

rs_757949849

2 SubmittersRCV000291384 RCV000383405 RCV003765802

NM_024312.5(GNPTAB):c.348G>A (p.Thr116=)

SNV
Germline

Chr12:101788565

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746908

rs_145244231

3 SubmittersRCV000271090 RCV000368079 RCV000899459

NM_024312.5(GNPTAB):c.42G>C (p.Leu14=)

SNV
Germline

Chr12:101830634

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6747024

rs_376257286

3 SubmittersRCV000313903 RCV000406859 RCV000933152

NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=)

SNV
Germline

Chr12:101764418

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
GNPTAB-related disorder
Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746422

rs_77410031

5 SubmittersRCV000296241 RCV000349372 RCV004537727 RCV004808676 RCV000973976

NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)

SNV
Germline

Chr12:101786070

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746868

rs_371813268

3 SubmittersRCV000298346 RCV000369409 RCV000941657

NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met)

SNV
Germline

Chr12:101764576

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746445

rs_183435240

4 SubmittersRCV000421294 RCV001114039 RCV001114040 RCV002059848

NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr)

SNV
Germline

Chr12:101764798

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746472

rs_376620571

4 SubmittersRCV000442816 RCV001828455 RCV002526362

NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser)

SNV
Unknown

Chr12:101753399

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA16609422

rs_1060499688

1 SubmittersRCV000449510

NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe)

SNV
Unknown

Chr12:101753435

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA16609423

rs_1060499689

1 SubmittersRCV000449550

NM_024312.5(GNPTAB):c.3336-1G>A

SNV
Unknown

Chr12:101757311

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA501186

rs_397507562

1 SubmittersRCV000449614

NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)

SNV
Germline

Chr12:101761306

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6746287

rs_769587233

7 SubmittersRCV000449553 RCV003221982 RCV002469150

NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn)

SNV
Germline

Chr12:101766103

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6746584

rs_750240374

2 SubmittersRCV000449579

NM_024312.5(GNPTAB):c.1408+1G>T

SNV
Germline

Chr12:101768036

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA16609432

rs_1060499680

3 SubmittersRCV000449512 RCV001420190

NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile)

SNV
Unknown

Chr12:101786012

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA6746857

rs_751953529

1 SubmittersRCV000449605

NM_024312.5(GNPTAB):c.1053C>T (p.Asn351=)

SNV
Germline

Chr12:101770466

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746724

rs_749261391

2 SubmittersRCV000594691 RCV002062006

NM_024312.5(GNPTAB):c.3603-1G>A

SNV
Germline

Chr12:101749192

Pathogenic

Mucolipidosis
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA242444623

rs_35576380

2 SubmittersRCV000612152 RCV001860237

NM_024312.5(GNPTAB):c.100G>C (p.Ala34Pro)

SNV
Unknown

Chr12:101830576

Likely pathogenic

Mucolipidosis type II

Criteria Provided
Single Submitter

CA386486903

rs_1555277061

1 SubmittersRCV000626103

NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)

SNV
Germline

Chr12:101765157

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA386299869

rs_143788461

4 SubmittersRCV000666195 RCV003235335

NM_024312.5(GNPTAB):c.771+2T>A

SNV
Unknown

Chr12:101780150

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

No Assertion Criteria Provided

CA386304301

rs_1555271215

1 SubmittersRCV000668223

NM_024312.5(GNPTAB):c.204-1G>C

SNV
Unknown

Chr12:101790058

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

No Assertion Criteria Provided

CA386305593

rs_748389002

1 SubmittersRCV000672924

NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter)

SNV
Unknown

Chr12:101749191

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

No Assertion Criteria Provided

CA386291852

rs_1555267839

1 SubmittersRCV000674030

NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter)

SNV
Unknown

Chr12:101830637

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

No Assertion Criteria Provided

CA386487032

rs_1555277081

1 SubmittersRCV000669442

NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)

SNV
Germline

Chr12:101753403

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis

Criteria Provided
Single Submitter

CA386292209

rs_1481471124

4 SubmittersRCV000673576 RCV001830458 RCV003984845

NM_024312.5(GNPTAB):c.933+1G>T

SNV
Germline

Chr12:101770995

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386303413

rs_1327876395

2 SubmittersRCV000669825

NM_024312.5(GNPTAB):c.771+1G>C

SNV
Unknown

Chr12:101780151

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

No Assertion Criteria Provided

CA386304303

rs_1555271217

1 SubmittersRCV000673014

NM_024312.5(GNPTAB):c.366-2A>G

SNV
Unknown

Chr12:101786219

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

No Assertion Criteria Provided

CA386305213

rs_1555271868

1 SubmittersRCV000673062

NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser)

SNV
Germline

Chr12:101765055

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746516

rs_146476305

4 SubmittersRCV000675288 RCV001110789 RCV001110790 RCV002060831

NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)

SNV
Germline

Chr12:101766281

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II
Pseudo-Hurler polydystrophy
GNPTAB-related disorder

Criteria Provided
Conflicting Classifications

CA6746611

rs_775742250

4 SubmittersRCV000675292 RCV001443181 RCV004544934

NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter)

SNV
Germline

Chr12:101771154

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386303769

rs_1566078120

2 SubmittersRCV003768421 RCV005614446

NM_024312.5(GNPTAB):c.203+2T>C

SNV
Germline

Chr12:101796675

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386305633

rs_1594242785

2 SubmittersRCV000796491 RCV001274644

NM_024312.5(GNPTAB):c.117+1G>T

SNV
Germline

Chr12:101830558

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386486861

rs_1324141092

1 SubmittersRCV000816112

NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr)

SNV
Germline

Chr12:101766270

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6746607

rs_149718548

5 SubmittersRCV000968156 RCV001112784 RCV001114128 RCV003392711

NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)

SNV
Germline

Chr12:101830606

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6747018

rs_141329633

4 SubmittersRCV000967688 RCV001112931 RCV001112932 RCV003332274

NM_024312.5(GNPTAB):c.1800C>T (p.Leu600=)

SNV
Germline

Chr12:101765117

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy
Mucolipidosis type II
GNPTAB-related disorder

Criteria Provided
Conflicting Classifications

CA6746526

rs_534858651

3 SubmittersRCV000897578 RCV001110793 RCV001110794 RCV004541862

NM_024312.5(GNPTAB):c.174C>T (p.Asp58=)

SNV
Germline

Chr12:101796706

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Conflicting Classifications

CA6746984

rs_148948607

3 SubmittersRCV000899421 RCV001110934 RCV001110935

NM_024312.5(GNPTAB):c.3456C>A (p.Asp1152Glu)

SNV
Unknown

Chr12:101753518

Likely pathogenic

Mucolipidosis type II

Criteria Provided
Single Submitter

CA386292777

rs_1594204203

1 SubmittersRCV000988896

NM_024312.5(GNPTAB):c.2991T>G (p.Tyr997Ter)

SNV
Germline

Chr12:101761271

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386295885

rs_1952988471

1 SubmittersRCV001067360

NM_024312.5(GNPTAB):c.2404C>T (p.Gln802Ter)

SNV
Germline

Chr12:101764513

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA386298316

rs_1310955639

4 SubmittersRCV001040909 RCV003984853 RCV005253687

NM_024312.5(GNPTAB):c.1247G>A (p.Trp416Ter)

SNV
Germline

Chr12:101770058

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386302457

rs_1201536920

1 SubmittersRCV001047505

NM_024312.5(GNPTAB):c.1409-2A>G

SNV
Germline

Chr12:101766296

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA386301470

rs_1953092495

2 SubmittersRCV001070928 RCV002283521

NM_024312.5(GNPTAB):c.637-6T>G

SNV
Germline

Chr12:101780292

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6746819

rs_750793712

3 SubmittersRCV001057819 RCV001274642 RCV004782631

NM_024312.5(GNPTAB):c.3435G>A (p.Arg1145=)

SNV
Germline

Chr12:101753539

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA481317756

rs_1451696033

3 SubmittersRCV001112606 RCV001112607 RCV002556199 RCV005348322

NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=)

SNV
Germline

Chr12:101761751

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA481576851

rs_1953000723

2 SubmittersRCV001110712 RCV001110711 RCV003769122

NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn)

SNV
Germline

Chr12:101765091

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
GNPTAB-related disorder

Criteria Provided
Conflicting Classifications

CA6746522

rs_138811990

4 SubmittersRCV001110791 RCV001110792 RCV002069786 RCV004545066

NM_024312.5(GNPTAB):c.1023A>G (p.Pro341=)

SNV
Germline

Chr12:101770496

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
GNPTAB-related disorder
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746731

rs_750876420

3 SubmittersRCV001110098 RCV001110860 RCV004545065 RCV002558103

NM_024312.5(GNPTAB):c.381G>A (p.Glu127=)

SNV
Germline

Chr12:101786202

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA481326335

rs_1185319004

2 SubmittersRCV001110173 RCV001110172 RCV002067799

NM_024312.5(GNPTAB):c.30C>G (p.Thr10=)

SNV
Germline

Chr12:101830646

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA481347141

rs_1871323193

2 SubmittersRCV001114292 RCV001114291 RCV002556234

NM_024312.5(GNPTAB):c.3250-8T>C

SNV
Germline

Chr12:101757665

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA1139662824

rs_1952924076

2 SubmittersRCV001113940 RCV001113941 RCV001504682

NM_024312.5(GNPTAB):c.3250-12A>G

SNV
Germline

Chr12:101757669

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746213

rs_745938838

2 SubmittersRCV001113942 RCV001113943 RCV002069832

NM_024312.5(GNPTAB):c.1114-14G>A

SNV
Germline

Chr12:101770205

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746698

rs_776493814

2 SubmittersRCV001110096 RCV001110097 RCV003769120

NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter)

SNV
Germline

Chr12:101753372

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386292109

rs_1952850511

2 SubmittersRCV001175111

NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His)

SNV
Germline

Chr12:101761305

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA6746285

rs_776312538

5 SubmittersRCV001175109 RCV003117804 RCV004813156

NM_024312.5(GNPTAB):c.571+4A>T

SNV
Germline

Chr12:101786008

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

No Assertion Criteria Provided

CA1139662836

rs_1868618470

1 SubmittersRCV001175113

NM_024312.5(GNPTAB):c.322A>T (p.Arg108Ter)

SNV
Germline

Chr12:101789939

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA6746940

rs_770176191

1 SubmittersRCV001212095

NM_024312.5(GNPTAB):c.3136-1G>A

SNV
Germline

Chr12:101760144

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386294983

rs_1952971551

1 SubmittersRCV001215870

NM_024312.5(GNPTAB):c.2915+1G>A

SNV
Germline

Chr12:101761563

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386296075

rs_1952995034

1 SubmittersRCV001219461

NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys)

SNV
Germline

Chr12:101764570

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6746444

rs_765924360

4 SubmittersRCV001246676 RCV001279466 RCV003481029

NM_024312.5(GNPTAB):c.1955T>G (p.Leu652Ter)

SNV
Germline

Chr12:101764962

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386299313

rs_1953064841

1 SubmittersRCV001242723

NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter)

SNV
Germline

Chr12:101753433

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA386292354

rs_1257678960

2 SubmittersRCV001263572

NM_024312.5(GNPTAB):c.3082A>T (p.Arg1028Ter)

SNV
Unknown

Chr12:101761180

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386295195

rs_1952986419

1 SubmittersRCV001263573

NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter)

SNV
Germline

Chr12:101761246

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA386295599

rs_1952987753

2 SubmittersRCV001263574

NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter)

SNV
Germline

Chr12:101761571

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA386296095

rs_1952995212

2 SubmittersRCV001263859

NM_024312.5(GNPTAB):c.2761A>T (p.Lys921Ter)

SNV
Unknown

Chr12:101761718

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386296415

rs_1952999818

1 SubmittersRCV001263860

NM_024312.5(GNPTAB):c.2731A>T (p.Lys911Ter)

SNV
Unknown

Chr12:101761748

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386296486

rs_1953000660

1 SubmittersRCV001263861

NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter)

SNV
Germline

Chr12:101764235

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA386297461

rs_779927550

3 SubmittersRCV001263862 RCV004690040

NM_024312.5(GNPTAB):c.2251C>T (p.Gln751Ter)

SNV
Unknown

Chr12:101764666

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386298659

rs_1566073911

1 SubmittersRCV001263863

NM_024312.5(GNPTAB):c.2198C>A (p.Ser733Ter)

SNV
Unknown

Chr12:101764719

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386298779

rs_1953059037

1 SubmittersRCV001263864

NM_024312.5(GNPTAB):c.2102C>A (p.Ser701Ter)

SNV
Unknown

Chr12:101764815

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386298989

rs_1953060930

1 SubmittersRCV001263865

NM_024312.5(GNPTAB):c.1882C>T (p.Gln628Ter)

SNV
Unknown

Chr12:101765035

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386299487

rs_1953067028

1 SubmittersRCV001263866

NM_024312.5(GNPTAB):c.1780A>T (p.Lys594Ter)

SNV
Unknown

Chr12:101765137

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386299830

rs_1953069110

1 SubmittersRCV001264025

NM_024312.5(GNPTAB):c.1633A>T (p.Lys545Ter)

SNV
Unknown

Chr12:101765284

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386300146

rs_1953073126

1 SubmittersRCV001264026

NM_024312.5(GNPTAB):c.1492G>T (p.Gly498Ter)

SNV
Unknown

Chr12:101766211

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386301289

rs_1953090856

1 SubmittersRCV001264027

NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter)

SNV
Germline

Chr12:101770526

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA386303265

rs_1953155445

2 SubmittersRCV001264028

NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter)

SNV
Germline

Chr12:101771049

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA386303531

rs_1953165554

2 SubmittersRCV001264029

NM_024312.5(GNPTAB):c.712A>T (p.Lys238Ter)

SNV
Unknown

Chr12:101780211

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386304439

rs_1953321100

1 SubmittersRCV001264030

NM_024312.5(GNPTAB):c.680T>A (p.Leu227Ter)

SNV
Unknown

Chr12:101780243

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386304510

rs_1953321606

1 SubmittersRCV001264031

NM_024312.5(GNPTAB):c.635T>A (p.Leu212Ter)

SNV
Unknown

Chr12:101780558

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386304622

rs_1953326710

1 SubmittersRCV001264032

NM_024312.5(GNPTAB):c.598A>T (p.Lys200Ter)

SNV
Unknown

Chr12:101780595

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386304706

rs_1953327561

1 SubmittersRCV001264358

NM_024312.5(GNPTAB):c.542C>G (p.Ser181Ter)

SNV
Unknown

Chr12:101786041

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386304831

rs_756660023

1 SubmittersRCV001264359

NM_024312.5(GNPTAB):c.295C>T (p.Gln99Ter)

SNV
Unknown

Chr12:101789966

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386305394

rs_1868886361

1 SubmittersRCV001264360

NM_024312.5(GNPTAB):c.184G>T (p.Gly62Ter)

SNV
Unknown

Chr12:101796696

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386305681

rs_1869312458

1 SubmittersRCV001264361

NM_024312.5(GNPTAB):c.118-1G>A

SNV
Germline

Chr12:101796763

Pathogenic/Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA386305837

rs_1301743166

3 SubmittersRCV001380993 RCV003984858

NM_024312.5(GNPTAB):c.2304A>C (p.Lys768Asn)

SNV
Germline

Chr12:101764613

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Inborn genetic diseases
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA6746451

rs_558911370

3 SubmittersRCV001563984 RCV001563985 RCV003264061 RCV002072151

NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp)

SNV
Germline

Chr12:101830559

Conflicting classifications of pathogenicity

Condition: not provided
Mucolipidosis type II

Criteria Provided
Conflicting Classifications

CA6747011

rs_765682282

2 SubmittersRCV001764819 RCV002246474

NM_024312.5(GNPTAB):c.1567T>C (p.Cys523Arg)

SNV
Germline

Chr12:101766136

Pathogenic

Condition: not provided
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA386301117

rs_2137119014

2 SubmittersRCV001783391 RCV005622125

NM_024312.5(GNPTAB):c.1612+1G>A

SNV
Germline

Chr12:101766090

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386301012

rs_1566075180

1 SubmittersRCV001974050

NM_024312.5(GNPTAB):c.25C>T (p.Gln9Ter)

SNV
Germline

Chr12:101830651

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386487061

rs_1871323854

1 SubmittersRCV001941726

NM_024312.5(GNPTAB):c.636+1G>A

SNV
Germline

Chr12:101780556

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386304616

rs_746175107

1 SubmittersRCV001999085

NM_024312.5(GNPTAB):c.3602+2T>A

SNV
Germline

Chr12:101753370

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386292102

rs_1952850476

1 SubmittersRCV001961515

NM_024312.5(GNPTAB):c.3034C>T (p.Gln1012Ter)

SNV
Germline

Chr12:101761228

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386295489

rs_2137112043

1 SubmittersRCV001878033

NM_024312.5(GNPTAB):c.1071G>A (p.Trp357Ter)

SNV
Germline

Chr12:101770448

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386303042

rs_2137124017

1 SubmittersRCV001953806

NM_024312.5(GNPTAB):c.1292T>A (p.Leu431Ter)

SNV
Germline

Chr12:101768153

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386302116

rs_2137121384

1 SubmittersRCV001958222

NM_024312.5(GNPTAB):c.613C>T (p.Gln205Ter)

SNV
Germline

Chr12:101780580

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA386304670

rs_1953327287

2 SubmittersRCV001958913 RCV002564400

NM_024312.5(GNPTAB):c.1284+1G>T

SNV
Germline

Chr12:101770020

Pathogenic/Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA386302320

rs_1256349457

2 SubmittersRCV002021288

NM_024312.5(GNPTAB):c.323+1G>A

SNV
Germline

Chr12:101789937

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386305325

rs_2137150067

1 SubmittersRCV002023411

NM_024312.5(GNPTAB):c.1186G>T (p.Glu396Ter)

SNV
Germline

Chr12:101770119

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386302672

rs_1245543262

1 SubmittersRCV001903278

NM_024312.5(GNPTAB):c.280C>T (p.Gln94Ter)

SNV
Germline

Chr12:101789981

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386305429

rs_1391863896

1 SubmittersRCV001922632

NM_024312.5(GNPTAB):c.2213C>A (p.Ser738Ter)

SNV
Germline

Chr12:101764704

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386298747

rs_1298654156

1 SubmittersRCV002000101

NM_024312.5(GNPTAB):c.1114-2A>G

SNV
Germline

Chr12:101770193

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386302901

rs_2137123738

1 SubmittersRCV002000281

NM_024312.5(GNPTAB):c.772-1G>C

SNV
Germline

Chr12:101771158

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386303780

rs_2137125146

1 SubmittersRCV001995630

NM_024312.5(GNPTAB):c.571+1G>A

SNV
Germline

Chr12:101786011

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386304771

rs_1412230289

1 SubmittersRCV001963898

NM_024312.5(GNPTAB):c.1624G>T (p.Glu542Ter)

SNV
Germline

Chr12:101765293

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386300178

rs_2137118051

1 SubmittersRCV001946792

NM_024312.5(GNPTAB):c.3G>C (p.Met1Ile)

SNV
Germline

Chr12:101830673

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA6747034

rs_752247255

1 SubmittersRCV001972386

NM_024312.5(GNPTAB):c.3098T>C (p.Leu1033Pro)

SNV
Germline

Chr12:101761164

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386295154

rs_1594210754

1 SubmittersRCV002017047

NM_024312.5(GNPTAB):c.325G>T (p.Glu109Ter)

SNV
Germline

Chr12:101788588

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA6746914

rs_377553632

1 SubmittersRCV001975245

NM_024312.5(GNPTAB):c.1881G>T (p.Met627Ile)

SNV
Germline

Chr12:101765036

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA386299492

rs_757613660

2 SubmittersRCV002030761 RCV002548958

NM_024312.5(GNPTAB):c.445A>G (p.Ile149Val)

SNV
Germline

Chr12:101786138

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA386305034

rs_141222937

2 SubmittersRCV002157188 RCV004976210

NM_024312.5(GNPTAB):c.59T>G (p.Leu20Arg)

SNV
Germline

Chr12:101830617

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6747021

rs_769506610

2 SubmittersRCV002217747 RCV005250235

NM_024312.5(GNPTAB):c.3694-1G>A

SNV
Germline

Chr12:101747242

Conflicting classifications of pathogenicity

not specified
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Conflicting Classifications

CA386291524

rs_1297022622

2 SubmittersRCV002222916 RCV005002804

NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp)

SNV
Germline

Chr12:101796678

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II
not specified

Criteria Provided
Conflicting Classifications

CA6746982

rs_531738916

3 SubmittersRCV002290867 RCV003097737 RCV003120882

NM_024312.5(GNPTAB):c.998T>A (p.Leu333Ter)

SNV
Unknown

Chr12:101770521

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386303255

rs_2547961437

1 SubmittersRCV002306760

NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)

SNV
Germline

Chr12:101766224

Pathogenic/Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA386301319

rs_2547958737

2 SubmittersRCV002309718

NM_024312.5(GNPTAB):c.694G>T (p.Gly232Ter)

SNV
Unknown

Chr12:101780229

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386304476

rs_2547967585

1 SubmittersRCV002308002

NM_024312.5(GNPTAB):c.2054C>A (p.Ser685Ter)

SNV
Unknown

Chr12:101764863

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386299094

rs_2547957481

1 SubmittersRCV002309193

NM_024312.5(GNPTAB):c.1538G>A (p.Trp513Ter)

SNV
Unknown

Chr12:101766165

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386301189

rs_2547958660

1 SubmittersRCV002307241

NM_024312.5(GNPTAB):c.724C>T (p.Gln242Ter)

SNV
Unknown

Chr12:101780199

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386304411

rs_761467513

1 SubmittersRCV002307303

NM_024312.5(GNPTAB):c.745G>T (p.Glu249Ter)

SNV
Unknown

Chr12:101780178

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386304363

rs_2547967537

1 SubmittersRCV002310098

NM_024312.5(GNPTAB):c.1154C>A (p.Ser385Ter)

SNV
Unknown

Chr12:101770151

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386302781

rs_2547961071

1 SubmittersRCV002310203

NM_024312.5(GNPTAB):c.2991T>A (p.Tyr997Ter)

SNV
Unknown

Chr12:101761271

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386295886

rs_1952988471

1 SubmittersRCV002310373

NM_024312.5(GNPTAB):c.2285T>A (p.Leu762Ter)

SNV
Unknown

Chr12:101764632

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386298584

rs_758558970

1 SubmittersRCV002310515

NM_024312.5(GNPTAB):c.1212C>G (p.Tyr404Ter)

SNV
Germline

Chr12:101770093

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA386302580

rs_1594218809

2 SubmittersRCV003058390 RCV005254692

NM_024312.5(GNPTAB):c.9C>G (p.Phe3Leu)

SNV
Germline

Chr12:101830667

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6747031

rs_573282230

3 SubmittersRCV003061306 RCV003481383 RCV003274205

NM_024312.5(GNPTAB):c.1760G>A (p.Arg587Gln)

SNV
Germline

Chr12:101765157

Conflicting classifications of pathogenicity

Mucolipidosis type II
Pseudo-Hurler polydystrophy
not specified

Criteria Provided
Conflicting Classifications

CA242457138

rs_143788461

2 SubmittersRCV002664014 RCV004587446

NM_024312.5(GNPTAB):c.2701C>T (p.Gln901Ter)

SNV
Germline

Chr12:101764216

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386297360

rs_2547956432

1 SubmittersRCV003112255

NM_024312.5(GNPTAB):c.933+1G>A

SNV
Germline

Chr12:101770995

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA386303415

rs_1327876395

2 SubmittersRCV002685914

NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)

SNV
Germline

Chr12:101770161

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
not specified

Criteria Provided
Conflicting Classifications

CA6746692

rs_112543062

2 SubmittersRCV002785624 RCV003331392

NM_024312.5(GNPTAB):c.3598G>T (p.Glu1200Ter)

SNV
Germline

Chr12:101753376

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386292118

rs_137853825

1 SubmittersRCV002781126

NM_024312.5(GNPTAB):c.766A>T (p.Lys256Ter)

SNV
Germline

Chr12:101780157

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386304315

rs_1288191896

1 SubmittersRCV002802168

NM_024312.5(GNPTAB):c.142C>T (p.Gln48Ter)

SNV
Germline

Chr12:101796738

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386305779

rs_2137158804

1 SubmittersRCV002850917

NM_024312.5(GNPTAB):c.1471C>T (p.Gln491Ter)

SNV
Germline

Chr12:101766232

Pathogenic/Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA386301338

rs_2547958752

2 SubmittersRCV002880995

NM_024312.5(GNPTAB):c.2305C>T (p.Gln769Ter)

SNV
Germline

Chr12:101764612

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386298538

rs_1235685630

1 SubmittersRCV002913531

NM_024312.5(GNPTAB):c.2T>C (p.Met1Thr)

SNV
Germline

Chr12:101830674

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386487109

rs_2547989679

1 SubmittersRCV002948700

NM_024312.5(GNPTAB):c.2849C>A (p.Ser950Ter)

SNV
Germline

Chr12:101761630

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386296216

rs_1020172077

1 SubmittersRCV002948866

NM_024312.5(GNPTAB):c.527C>T (p.Pro176Leu)

SNV
Germline

Chr12:101786056

Conflicting classifications of pathogenicity

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6746865

rs_142302101

2 SubmittersRCV003002176 RCV004065251

NM_024312.5(GNPTAB):c.2467C>T (p.Gln823Ter)

SNV
Germline

Chr12:101764450

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386298178

rs_2547956808

1 SubmittersRCV002994384

NM_024312.5(GNPTAB):c.2748C>G (p.Tyr916Ter)

SNV
Germline

Chr12:101761731

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

CA386296446

rs_143931833

1 SubmittersRCV003019192

NM_024312.5(GNPTAB):c.324-2A>G

SNV
Germline

Chr12:101788591

Likely pathogenic

Mucolipidosis
Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA386305319

rs_1364784378

2 SubmittersRCV003155744 RCV003778928

NM_024312.5(GNPTAB):c.2174T>A (p.Leu725Ter)

SNV
Germline

Chr12:101764743

Pathogenic/Likely pathogenic

Mucolipidosis
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA242456643

rs_923732649

3 SubmittersRCV003226846 RCV003779818

NM_024312.5(GNPTAB):c.3335+5G>A

SNV
Germline

Chr12:101757567

Likely pathogenic

Mucolipidosis type II

No Assertion Criteria Provided

CA2620427350

rs_1396473895

1 SubmittersRCV003984879

NM_024312.5(GNPTAB):c.1284+1G>A

SNV
Germline

Chr12:101770020

Likely pathogenic

Mucolipidosis type II

No Assertion Criteria Provided

CA386302319

rs_1256349457

1 SubmittersRCV003984883

NM_024312.5(GNPTAB):c.572-2A>G

SNV
Germline

Chr12:101780623

Likely pathogenic

Mucolipidosis type II

Criteria Provided
Single Submitter

CA386304764

rs_2547967894

1 SubmittersRCV003447465

NM_024312.5(GNPTAB):c.1364C>T (p.Ala455Val)

SNV
Germline

Chr12:101768081

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386301900

rs_2547959753

1 SubmittersRCV003797889

NM_024312.5(GNPTAB):c.2363T>A (p.Leu788Ter)

SNV
Germline

Chr12:101764554

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386298408

rs_2547956980

1 SubmittersRCV003795919

NM_024312.5(GNPTAB):c.835G>T (p.Glu279Ter)

SNV
Germline

Chr12:101771094

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386303638

rs_2547961923

2 SubmittersRCV003783598 RCV005616783

NM_024312.5(GNPTAB):c.1609C>T (p.Gln537Ter)

SNV
Germline

Chr12:101766094

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386301021

rs_2547958587

1 SubmittersRCV003792873

NM_024312.5(GNPTAB):c.1113+1G>T

SNV
Germline

Chr12:101770405

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386302907

rs_2547961279

1 SubmittersRCV003787846

NM_024312.5(GNPTAB):c.772-1G>T

SNV
Germline

Chr12:101771158

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386303779

rs_2137125146

1 SubmittersRCV003808079

NM_024312.5(GNPTAB):c.1613-1G>C

SNV
Germline

Chr12:101765305

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386300233

rs_2547958086

1 SubmittersRCV003806899

NM_024312.5(GNPTAB):c.2974C>T (p.Gln992Ter)

SNV
Germline

Chr12:101761288

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386295925

rs_1594210932

1 SubmittersRCV003799919

NM_024312.5(GNPTAB):c.203+1G>A

SNV
Germline

Chr12:101796676

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA6746980

rs_545989411

1 SubmittersRCV003809158

NM_024312.5(GNPTAB):c.2497G>T (p.Glu833Ter)

SNV
Germline

Chr12:101764420

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386298111

rs_2547956774

1 SubmittersRCV003801480

NM_024312.5(GNPTAB):c.204-2A>G

SNV
Germline

Chr12:101790059

Likely pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386305595

rs_2547972420

1 SubmittersRCV003807152

NM_024312.5(GNPTAB):c.2737C>T (p.Gln913Ter)

SNV
Germline

Chr12:101761742

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386296474

rs_2547955024

1 SubmittersRCV003804873

NM_024312.5(GNPTAB):c.3595C>T (p.Gln1199Ter)

SNV
Germline

Chr12:101753379

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386292125

rs_2547949681

1 SubmittersRCV003804892

NM_024312.5(GNPTAB):c.147C>G (p.Tyr49Ter)

SNV
Germline

Chr12:101796733

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386305766

rs_2547975414

1 SubmittersRCV003802035

NM_024312.5(GNPTAB):c.1409-1G>A

SNV
Germline

Chr12:101766295

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386301465

rs_2137119323

1 SubmittersRCV003802079

NM_024312.5(GNPTAB):c.3199C>T (p.Gln1067Ter)

SNV
Germline

Chr12:101760080

Pathogenic

Pseudo-Hurler polydystrophy
Mucolipidosis type II

Criteria Provided
Single Submitter

CA386294711

rs_2547953413

1 SubmittersRCV003809889

NM_024312.5(GNPTAB):c.1342A>T (p.Lys448Ter)

SNV
Germline

Chr12:101768103

Pathogenic

Mucolipidosis type II

Criteria Provided
Single Submitter

CA386301964

rs_2547959783

1 SubmittersRCV003993709

NM_024312.5(GNPTAB):c.1383C>A (p.Cys461Ter)

SNV
Germline

Chr12:101768062

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004797213

NM_024312.5(GNPTAB):c.2915+2T>C

SNV
Germline

Chr12:101761562

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005004778

NM_024312.5(GNPTAB):c.1512C>A (p.Tyr504Ter)

SNV
Germline

Chr12:101766191

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005004782

NM_024312.5(GNPTAB):c.1285-1G>A

SNV
Germline

Chr12:101768161

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005006770

NM_024312.5(GNPTAB):c.366-1G>A

SNV
Germline

Chr12:101786218

Likely pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005006773

NM_024312.5(GNPTAB):c.1A>T (p.Met1Leu)

SNV
Germline

Chr12:101830675

Pathogenic

Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005219564

NM_024312.5(GNPTAB):c.63C>A (p.Tyr21Ter)

SNV
Germline

Chr12:101830613

Pathogenic

Mucolipidosis type II

Criteria Provided
Single Submitter

1 SubmittersRCV005603951

NM_024312.5(GNPTAB):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr12:101766223

Likely pathogenic

Mucolipidosis type II

No Assertion Criteria Provided

1 SubmittersRCV005616221

NM_024312.5(GNPTAB):c.3602+2T>C

SNV
Germline

Chr12:101753370

Likely pathogenic

Mucolipidosis type II

Criteria Provided
Single Submitter

1 SubmittersRCV005622965