Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)	SNV Germline	Chr19:12665750	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA339900	rs_387906261	4 SubmittersRCV000001752
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)	SNV Germline	Chr19:12649418	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA251911	rs_121434331	7 SubmittersRCV000001753
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)	SNV Germline	Chr19:12652376	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA251913	rs_121434332	2 SubmittersRCV000001754
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	SNV Germline	Chr19:12649932	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339901	rs_80338680	23 SubmittersRCV000001755 RCV000622985 RCV001091771
NM_000528.4(MAN2B1):c.1830+1G>C	SNV Germline	Chr19:12655693	Pathogenic	Deficiency of alpha-mannosidase Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341734	rs_80338677	15 SubmittersRCV000020364 RCV000622767 RCV001564933
NM_000528.4(MAN2B1):c.1831-2A>G	SNV Germline	Chr19:12652462	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA341735	rs_80338678	4 SubmittersRCV000020365
NM_000528.4(MAN2B1):c.2165+1G>A	SNV Germline	Chr19:12650103	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA341736	rs_80338679	4 SubmittersRCV000020366
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	SNV Germline	Chr19:12649146	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase MAN2B1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341737	rs_80338681	14 SubmittersRCV000020367 RCV004755744
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)	SNV Germline	Chr19:12652270	Pathogenic	Condition: not provided Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA221081	rs_398123455	8 SubmittersRCV000079075 RCV001390130
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg)	SNV Germline	Chr19:12649174	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA221083	rs_398123456	2 SubmittersRCV000079076 RCV001775569
NM_000528.4(MAN2B1):c.2436+2T>C	SNV Germline	Chr19:12649134	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA221084	rs_398123457	6 SubmittersRCV000079077 RCV000410282
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)	SNV Germline	Chr19:12647291	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of alpha-mannosidase not specified	Criteria Provided Conflicting Classifications	CA221085	rs_148108322	11 SubmittersRCV000675472 RCV001079772 RCV001705728
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	SNV Germline	Chr19:12657482	Pathogenic	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274341	rs_775200333	7 SubmittersRCV000169471 RCV005230031
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)	SNV Germline	Chr19:12658428	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA274397	rs_786204715	7 SubmittersRCV000169531
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)	SNV Germline	Chr19:12663723	Conflicting classifications of pathogenicity	not specified Deficiency of alpha-mannosidase Condition: not provided MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA203023	rs_117843968	10 SubmittersRCV000178787 RCV000528570 RCV001311166 RCV003927668
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)	SNV Germline	Chr19:12646657	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA350932	rs_864621991	4 SubmittersRCV000206935
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	SNV Germline	Chr19:12647289	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA350887	rs_768233248	7 SubmittersRCV000206896
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)	SNV Germline	Chr19:12647516	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA350936	rs_758765126	6 SubmittersRCV000206938
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)	SNV Germline	Chr19:12649170	Likely pathogenic	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350919	rs_864621994	4 SubmittersRCV000206924 RCV003318559
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)	SNV Germline	Chr19:12649174	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA350963	rs_398123456	5 SubmittersRCV000206964
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)	SNV Germline	Chr19:12650129	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA350952	rs_864621993	6 SubmittersRCV000206950
NM_000528.4(MAN2B1):c.1694T>C (p.Leu565Pro)	SNV Germline	Chr19:12655830	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA350998	rs_864621986	2 SubmittersRCV000206991
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)	SNV Germline	Chr19:12657507	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA350995	rs_864621984	2 SubmittersRCV000206989
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)	SNV Germline	Chr19:12657514	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350891	rs_368899357	5 SubmittersRCV000206900 RCV005414477
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)	SNV Germline	Chr19:12658113	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase not specified	Criteria Provided Conflicting Classifications	CA350942	rs_772853856	5 SubmittersRCV000206944 RCV005431541
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)	SNV Germline	Chr19:12658250	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Conflicting Classifications	CA350885	rs_370760999	4 SubmittersRCV000206895 RCV001509017
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro)	SNV Germline	Chr19:12658474	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA351002	rs_864621992	2 SubmittersRCV000206997
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)	SNV Germline	Chr19:12658482	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA350927	rs_864621980	3 SubmittersRCV000206932
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)	SNV Germline	Chr19:12663438	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA350992	rs_746808159	6 SubmittersRCV000206987
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	SNV Germline	Chr19:12663781	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase Condition: not provided MAN2B1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA350933	rs_763257568	10 SubmittersRCV000206936 RCV003238730 RCV004755802
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu)	SNV Germline	Chr19:12664823	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA350978	rs_864621978	2 SubmittersRCV000206976
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)	SNV Germline	Chr19:12664824	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA350939	rs_772108001	5 SubmittersRCV000206941
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)	SNV Germline	Chr19:12664832	Likely pathogenic	Deficiency of alpha-mannosidase Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351013	rs_864621977	6 SubmittersRCV000207004 RCV002517904 RCV005625418
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)	SNV Germline	Chr19:12665743	Likely pathogenic	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350959	rs_746702002	4 SubmittersRCV000206959 RCV001572479
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)	SNV Germline	Chr19:12665801	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA350902	rs_864621975	4 SubmittersRCV000206911
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)	SNV Germline	Chr19:12657482	Pathogenic	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9226480	rs_775200333	10 SubmittersRCV000301281 RCV000723878
NM_000528.4(MAN2B1):c.1928+10G>C	SNV Germline	Chr19:12652353	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of alpha-mannosidase MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226273	rs_200579436	3 SubmittersRCV000277640 RCV001088355 RCV003930123
NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=)	SNV Germline	Chr19:12658469	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226607	rs_117880912	2 SubmittersRCV000296558 RCV002519297
NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile)	SNV Germline	Chr19:12655728	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226324	rs_181476648	2 SubmittersRCV000263819 RCV002519316
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)	SNV Germline	Chr19:12646665	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA10642318	rs_886054228	2 SubmittersRCV000374686
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)	SNV Germline	Chr19:12649920	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided MAN2B1-related disorder not specified	Criteria Provided Conflicting Classifications	CA9226146	rs_141212446	10 SubmittersRCV000267336 RCV000675478 RCV003940305 RCV003488545
NM_000528.4(MAN2B1):c.2047-5C>T	SNV Germline	Chr19:12650227	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226211	rs_200424566	4 SubmittersRCV000371511
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)	SNV Germline	Chr19:12652446	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226290	rs_369071579	3 SubmittersRCV000375097
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)	SNV Germline	Chr19:12656973	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA10642322	rs_886054230	1 SubmittersRCV000387844
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)	SNV Germline	Chr19:12657041	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226440	rs_767199154	2 SubmittersRCV000343915
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)	SNV Germline	Chr19:12665503	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226844	rs_750997069	3 SubmittersRCV000282921
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)	SNV Germline	Chr19:12648220	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9225973	rs_372896479	2 SubmittersRCV000404945
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)	SNV Germline	Chr19:12664825	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226773	rs_200872797	3 SubmittersRCV000327235
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	SNV Germline	Chr19:12665370	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA10648318	rs_370803545	8 SubmittersRCV000384198
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)	SNV Germline	Chr19:12647291	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9225892	rs_148108322	3 SubmittersRCV000348896
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)	SNV Germline	Chr19:12657467	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226475	rs_774396746	3 SubmittersRCV000392764
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)	SNV Germline	Chr19:12663371	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226692	rs_139218045	5 SubmittersRCV000263305 RCV003912374
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)	SNV Germline	Chr19:12647270	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9225887	rs_142797984	2 SubmittersRCV000282265
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)	SNV Germline	Chr19:12648214	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9225971	rs_368834616	4 SubmittersRCV000352799
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)	SNV Germline	Chr19:12656628	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226386	rs_771761940	3 SubmittersRCV000349672
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)	SNV Germline	Chr19:12663827	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA10652252	rs_886054233	3 SubmittersRCV000380810
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)	SNV Germline	Chr19:12647567	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA9225943	rs_767323371	5 SubmittersRCV000411220
NM_000528.4(MAN2B1):c.2664+1G>A	SNV Germline	Chr19:12648174	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA9225967	rs_771953225	2 SubmittersRCV000411824
NM_000528.4(MAN2B1):c.2047-1G>A	SNV Unknown	Chr19:12650223	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA16041946	rs_1057517166	1 SubmittersRCV000410754
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)	SNV Germline	Chr19:12655837	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA16041949	rs_1057516927	6 SubmittersRCV000409235
NM_000528.4(MAN2B1):c.1528-1G>T	SNV Germline	Chr19:12656688	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA16041950	rs_561991886	3 SubmittersRCV000411831
NM_000528.4(MAN2B1):c.1309+1G>T	SNV Unknown	Chr19:12658062	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA16041952	rs_1057516745	2 SubmittersRCV000412292
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)	SNV Unknown	Chr19:12658291	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA16041954	rs_1057516524	1 SubmittersRCV000409662
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)	SNV Unknown	Chr19:12665511	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA16041957	rs_1057516325	1 SubmittersRCV000410290
NM_000528.4(MAN2B1):c.159+2T>C	SNV Germline	Chr19:12666541	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA16041958	rs_1057516501	3 SubmittersRCV000409222
NM_000528.4(MAN2B1):c.2356-2A>G	SNV Germline	Chr19:12649218	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of alpha-mannosidase Mannosidosis, alpha-, types I and II	Criteria Provided Multiple Submitters No Conflicts	CA16620767	rs_1064793936	5 SubmittersRCV000478158 RCV001251160 RCV004527376
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)	SNV Germline	Chr19:12652453	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of alpha-mannosidase MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226292	rs_543222535	7 SubmittersRCV000521153 RCV001083132 RCV004755947
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)	SNV Germline	Chr19:12655702	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226318	rs_145062583	6 SubmittersRCV000969160 RCV001696924 RCV003915471
NM_000528.4(MAN2B1):c.1110-8C>T	SNV Germline	Chr19:12658352	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Intellectual disability MAN2B1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA9226579	rs_201690866	5 SubmittersRCV000558708 RCV001252561 RCV003900121 RCV003333994
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)	SNV Germline	Chr19:12665404	Pathogenic	Condition: not provided Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404256264	rs_1555709972	2 SubmittersRCV000594878 RCV001775912
NM_000528.4(MAN2B1):c.2355+5C>G	SNV Germline	Chr19:12649336	Conflicting classifications of pathogenicity	not specified Deficiency of alpha-mannosidase MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226071	rs_770412137	3 SubmittersRCV000615262 RCV002532790 RCV003892359
NM_000528.4(MAN2B1):c.1929-1G>T	SNV Germline	Chr19:12652271	Pathogenic/Likely pathogenic	Inborn genetic diseases Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA9226259	rs_763100457	5 SubmittersRCV000623252 RCV000668849
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)	SNV Germline	Chr19:12657039	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9226437	rs_139435774	7 SubmittersRCV000631885 RCV001529835 RCV001701139
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)	SNV Germline	Chr19:12647519	Conflicting classifications of pathogenicity	Condition: not provided not specified Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA404237936	rs_1555706137	3 SubmittersRCV000658011 RCV001194449 RCV001775945
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)	SNV Germline	Chr19:12647594	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404238254	rs_1406466561	5 SubmittersRCV000668093
NM_000528.4(MAN2B1):c.2268-1G>C	SNV Unknown	Chr19:12649429	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA404241811	rs_1555706596	1 SubmittersRCV000672429
NM_000528.4(MAN2B1):c.2820+1G>A	SNV Germline	Chr19:12647442	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA9225917	rs_768734132	3 SubmittersRCV000671546
NM_000528.4(MAN2B1):c.2436+1G>A	SNV Unknown	Chr19:12649135	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA305461804	rs_200036864	1 SubmittersRCV000672697
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)	SNV Germline	Chr19:12649341	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA305461972	rs_1008745697	4 SubmittersRCV000669668
NM_000528.4(MAN2B1):c.2046+1G>T	SNV Germline	Chr19:12652152	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404243874	rs_1555707087	2 SubmittersRCV000673482
NM_000528.4(MAN2B1):c.2046+1G>A	SNV Unknown	Chr19:12652152	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404243876	rs_1555707087	2 SubmittersRCV000674325
NM_000528.4(MAN2B1):c.764-1G>C	SNV Unknown	Chr19:12663463	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404252420	rs_1555709533	2 SubmittersRCV000670394
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)	SNV Unknown	Chr19:12657475	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA404246749	rs_1555708126	1 SubmittersRCV000666098
NM_000528.4(MAN2B1):c.2665-1G>C	SNV Germline	Chr19:12647599	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA404238291	rs_1555706185	2 SubmittersRCV000671698
NM_000528.4(MAN2B1):c.2046+2T>A	SNV Germline	Chr19:12652151	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase Condition: not provided MAN2B1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA9226233	rs_748712495	8 SubmittersRCV000669117 RCV001546799 RCV004756005
NM_000528.4(MAN2B1):c.1527+1G>C	SNV Germline	Chr19:12656948	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA404246054	rs_1322313985	2 SubmittersRCV000674992
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)	SNV Unknown	Chr19:12665734	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404258065	rs_1555710070	2 SubmittersRCV000669543
NM_000528.4(MAN2B1):c.159+1G>A	SNV Germline	Chr19:12666542	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404260255	rs_1555710254	2 SubmittersRCV000667733
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)	SNV Germline	Chr19:12649397	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA9226086	rs_779769525	3 SubmittersRCV000666122
NM_000528.4(MAN2B1):c.1645-2A>T	SNV Germline	Chr19:12655881	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA305469722	rs_891030696	2 SubmittersRCV000674925
NM_000528.4(MAN2B1):c.1310-1G>A	SNV Germline	Chr19:12657556	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404247077	rs_1555708156	2 SubmittersRCV000674115
NM_000528.4(MAN2B1):c.1026+2T>C	SNV Unknown	Chr19:12661258	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA404249989	rs_369099686	1 SubmittersRCV000668825
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)	SNV Germline	Chr19:12663382	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of alpha-mannosidase MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226694	rs_45576136	8 SubmittersRCV000675486 RCV001123738 RCV003980297
NM_000528.4(MAN2B1):c.1645-1G>A	SNV Germline	Chr19:12655880	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA305469714	rs_938576591	6 SubmittersRCV000677673
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)	SNV Germline	Chr19:12649931	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226148	rs_373240866	3 SubmittersRCV000714791
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)	SNV Germline	Chr19:12658251	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404247900	rs_781291011	4 SubmittersRCV000761476
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)	SNV Germline	Chr19:12663370	Likely pathogenic	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9226691	rs_772562587	4 SubmittersRCV000779250 RCV002510974
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)	SNV Germline	Chr19:12666637	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9226910	rs_766383135	6 SubmittersRCV000779251 RCV002535649
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)	SNV Germline	Chr19:12664860	Pathogenic	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9226780	rs_1429239930	6 SubmittersRCV000781513 RCV003106059
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)	SNV Germline	Chr19:12646690	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9225850	rs_753397171	5 SubmittersRCV000804959 RCV004629337 RCV004792495
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)	SNV Germline	Chr19:12652363	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404244415	rs_1599344532	4 SubmittersRCV000815618
NM_000528.4(MAN2B1):c.2437-2A>G	SNV Germline	Chr19:12648404	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404240651	rs_1445197546	4 SubmittersRCV000824138
NM_000528.4(MAN2B1):c.1110-1G>T	SNV Germline	Chr19:12658345	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404248438	rs_1599352199	1 SubmittersRCV000804900
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)	SNV Germline	Chr19:12656955	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Conflicting Classifications	CA9226423	rs_143318498	7 SubmittersRCV000967161 RCV001702868
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)	SNV Germline	Chr19:12657482	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226479	rs_775200333	4 SubmittersRCV000963526
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)	SNV Germline	Chr19:12658296	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase not specified Condition: not provided MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226563	rs_112829030	7 SubmittersRCV000968638 RCV001700958 RCV001726399 RCV003928447
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)	SNV Germline	Chr19:12664967	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase not specified Condition: not provided MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226793	rs_200164758	7 SubmittersRCV000968907 RCV004586992 RCV001766798 RCV003960802
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)	SNV Germline	Chr19:12665369	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase MAN2B1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA9226821	rs_139281846	4 SubmittersRCV000972336 RCV003962890 RCV004792591
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)	SNV Germline	Chr19:12652441	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Conflicting Classifications	CA9226289	rs_370382032	4 SubmittersRCV000884804 RCV001759664
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)	SNV Germline	Chr19:12655811	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226339	rs_747081586	3 SubmittersRCV000889393
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)	SNV Germline	Chr19:12663722	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226728	rs_3745649	3 SubmittersRCV000889406
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)	SNV Germline	Chr19:12646683	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Conflicting Classifications	CA9225846	rs_148945108	5 SubmittersRCV000908443 RCV003424465
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)	SNV Germline	Chr19:12652192	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226239	rs_762152042	3 SubmittersRCV000909948
NM_000528.4(MAN2B1):c.1230+9G>C	SNV Germline	Chr19:12658215	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226541	rs_367590716	3 SubmittersRCV000897678
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)	SNV Germline	Chr19:12658287	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase MAN2B1-related disorder	Criteria Provided Conflicting Classifications	CA9226560	rs_762375074	5 SubmittersRCV000929025 RCV003895647
NM_000528.4(MAN2B1):c.2437-5C>G	SNV Germline	Chr19:12648407	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226011	rs_200695002	4 SubmittersRCV000939012
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)	SNV Germline	Chr19:12652236	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404244247	rs_2023854692	2 SubmittersRCV001055647
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)	SNV Germline	Chr19:12652245	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404244291	rs_756680048	3 SubmittersRCV001038590
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)	SNV Germline	Chr19:12665400	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404256222	rs_1366682636	2 SubmittersRCV001038214
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)	SNV Germline	Chr19:12646650	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA505624185	rs_2023694204	2 SubmittersRCV001122461
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)	SNV Germline	Chr19:12647273	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA505770578	rs_1376771729	3 SubmittersRCV001125241
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)	SNV Germline	Chr19:12648178	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Conflicting Classifications	CA9225968	rs_775212002	4 SubmittersRCV001126213 RCV003413932
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)	SNV Germline	Chr19:12648338	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9225997	rs_199967717	3 SubmittersRCV001126214
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)	SNV Germline	Chr19:12648370	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226003	rs_561895292	3 SubmittersRCV001126215
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)	SNV Germline	Chr19:12658469	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Conflicting Classifications	CA9226606	rs_117880912	4 SubmittersRCV001122644 RCV003405331
NM_000528.4(MAN2B1):c.282C>T (p.His94=)	SNV Germline	Chr19:12665506	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226845	rs_766810849	3 SubmittersRCV001128451
NM_000528.4(MAN2B1):c.2268-11C>T	SNV Germline	Chr19:12649439	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226097	rs_537217370	2 SubmittersRCV001128272
NM_000528.4(MAN2B1):c.1231-13C>T	SNV Germline	Chr19:12658154	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase not specified	Criteria Provided Conflicting Classifications	CA9226524	rs_372848519	3 SubmittersRCV001128366 RCV003479280
NM_000528.4(MAN2B1):c.1026+8C>T	SNV Germline	Chr19:12661252	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226634	rs_199908179	2 SubmittersRCV001122645
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)	SNV Germline	Chr19:12665718	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404257930	rs_2024217737	3 SubmittersRCV001209865
NM_000528.4(MAN2B1):c.1109+1G>C	SNV Germline	Chr19:12658427	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404248496	rs_2024027294	2 SubmittersRCV001212173
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)	SNV Germline	Chr19:12647269	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404237314	rs_757072948	2 SubmittersRCV001236147
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)	SNV Germline	Chr19:12658088	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404247369	rs_2024014272	2 SubmittersRCV001232309
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)	SNV Germline	Chr19:12652385	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Conflicting Classifications	CA9226279	rs_141276889	3 SubmittersRCV001239122 RCV003229885
NM_000528.4(MAN2B1):c.1644+4A>G	SNV Germline	Chr19:12656567	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA631834906	rs_1218254964	1 SubmittersRCV001250248
NM_000528.4(MAN2B1):c.1929-2A>G	SNV Germline	Chr19:12652272	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404244383	rs_2023856348	3 SubmittersRCV001251285
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)	SNV Unknown	Chr19:12665430	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided	CA404256548	rs_2024208039	1 SubmittersRCV001252564
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)	SNV Germline	Chr19:12663443	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404252342	rs_2024155693	3 SubmittersRCV001255537
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)	SNV Germline	Chr19:12652398	Conflicting classifications of pathogenicity	not specified Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226283	rs_775247526	3 SubmittersRCV001260326 RCV001830061
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)	SNV Unknown	Chr19:12647511	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404237908	rs_2023718817	2 SubmittersRCV001263958
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)	SNV Unknown	Chr19:12647532	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404237993	rs_139366493	1 SubmittersRCV001263959
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)	SNV Unknown	Chr19:12647540	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA9225937	rs_368224056	1 SubmittersRCV001263960
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)	SNV Germline	Chr19:12650006	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404242960	rs_2023804275	2 SubmittersRCV001263961
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)	SNV Unknown	Chr19:12650178	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404243452	rs_2023809176	1 SubmittersRCV001264121
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)	SNV Unknown	Chr19:12650198	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404243570	rs_2023809731	1 SubmittersRCV001264122
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)	SNV Unknown	Chr19:12652155	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404243882	rs_2023851530	1 SubmittersRCV001264123
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)	SNV Unknown	Chr19:12652174	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404243969	rs_2023852354	1 SubmittersRCV001264124
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)	SNV Unknown	Chr19:12652197	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404244054	rs_2023853280	1 SubmittersRCV001264125
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)	SNV Germline	Chr19:12655721	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404244739	rs_1224319934	2 SubmittersRCV001264126
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)	SNV Unknown	Chr19:12655788	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404244873	rs_2023939487	1 SubmittersRCV001264127
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)	SNV Unknown	Chr19:12656670	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404245863	rs_2023968144	1 SubmittersRCV001264247
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)	SNV Unknown	Chr19:12656993	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404246286	rs_755508725	1 SubmittersRCV001264248
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)	SNV Unknown	Chr19:12657026	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404246423	rs_2023979174	1 SubmittersRCV001264249
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)	SNV Unknown	Chr19:12657459	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404246674	rs_2023994563	1 SubmittersRCV001264250
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)	SNV Unknown	Chr19:12657502	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404246850	rs_2023996617	1 SubmittersRCV001264251
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)	SNV Unknown	Chr19:12661333	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404250540	rs_774034389	1 SubmittersRCV001264252
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)	SNV Unknown	Chr19:12663419	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404252249	rs_1329771201	1 SubmittersRCV001264253
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)	SNV Germline	Chr19:12664927	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404255126	rs_771479314	2 SubmittersRCV001264254
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)	SNV Germline	Chr19:12665496	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404257325	rs_2024210372	2 SubmittersRCV001263679
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter)	SNV Germline	Chr19:12655860	Pathogenic	Condition: not provided Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404245060	rs_376719984	2 SubmittersRCV001268901 RCV001776167
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)	SNV Germline	Chr19:12666668	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Condition: not provided	Criteria Provided Conflicting Classifications	CA9226920	rs_747538432	3 SubmittersRCV001300126 RCV003128776
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)	SNV Germline	Chr19:12658226	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404247712	rs_2024019978	3 SubmittersRCV001329966
NM_000528.4(MAN2B1):c.2268-2A>T	SNV Germline	Chr19:12649430	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404241815	rs_2023783146	1 SubmittersRCV001377753
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)	SNV Germline	Chr19:12650005	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404242952	rs_1392422167	3 SubmittersRCV001383468
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)	SNV Germline	Chr19:12665480	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase not specified	Criteria Provided Conflicting Classifications	CA404257150	rs_1369134650	3 SubmittersRCV001389809 RCV005237775
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)	SNV Germline	Chr19:12649398	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226087	rs_746514019	3 SubmittersRCV001461907
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter)	SNV Unknown	Chr19:12648324	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404240156	rs_1291147781	1 SubmittersRCV001506971
NM_000528.4(MAN2B1):c.1528-1G>A	SNV Germline	Chr19:12656688	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA9226396	rs_561991886	4 SubmittersRCV001783631
NM_000528.4(MAN2B1):c.262+1G>C	SNV Germline	Chr19:12665702	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404257753	rs_2145290458	1 SubmittersRCV001783632
NM_000528.4(MAN2B1):c.1026+2T>G	SNV Germline	Chr19:12661258	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA9226636	rs_369099686	3 SubmittersRCV001844512
NM_000528.4(MAN2B1):c.2267+1G>A	SNV Germline	Chr19:12649912	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA305462644	rs_1022927322	2 SubmittersRCV001977875
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu)	SNV Germline	Chr19:12663780	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404252895	rs_574202419	1 SubmittersRCV001991025
NM_000528.4(MAN2B1):c.1527+2T>G	SNV Germline	Chr19:12656947	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404246043	rs_2145254041	3 SubmittersRCV001930464
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)	SNV Germline	Chr19:12655810	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9226337	rs_377104016	3 SubmittersRCV001921103 RCV004988914
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter)	SNV Germline	Chr19:12655722	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404244740	rs_2145250103	1 SubmittersRCV001953143
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)	SNV Germline	Chr19:12652179	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9226238	rs_770791374	2 SubmittersRCV001899995
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)	SNV Germline	Chr19:12649932	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404242568	rs_80338680	1 SubmittersRCV001999253
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)	SNV Germline	Chr19:12658337	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA9226574	rs_778554304	2 SubmittersRCV001929997
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter)	SNV Germline	Chr19:12666636	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404260842	rs_2145294443	2 SubmittersRCV001909768
NM_000528.4(MAN2B1):c.1420-1G>A	SNV Germline	Chr19:12657057	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA9226442	rs_752229880	1 SubmittersRCV002035767
NM_000528.4(MAN2B1):c.1420-2A>G	SNV Germline	Chr19:12657058	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404246549	rs_2145254657	1 SubmittersRCV002032939
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter)	SNV Germline	Chr19:12658314	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA9226568	rs_767768982	1 SubmittersRCV001880849
NM_000528.4(MAN2B1):c.2166-2A>G	SNV Germline	Chr19:12650016	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404243012	rs_2145232776	1 SubmittersRCV001980393
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)	SNV Germline	Chr19:12666683	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9226921	rs_199673719	3 SubmittersRCV002042618 RCV004631914
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)	SNV Germline	Chr19:12650181	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA9226201	rs_764376758	1 SubmittersRCV002281757
NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)	SNV Unknown	Chr19:12658136	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404247603	rs_2024015975	1 SubmittersRCV002308055
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)	SNV Unknown	Chr19:12652203	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404244085	rs_2512492585	1 SubmittersRCV002306944
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)	SNV Unknown	Chr19:12664794	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404254135	rs_2512514346	1 SubmittersRCV002310221
NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)	SNV Unknown	Chr19:12655729	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404244753	rs_2512497496	1 SubmittersRCV002308397
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)	SNV Germline	Chr19:12650004	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA404242947	rs_2512489692	2 SubmittersRCV002461775 RCV003883200
NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)	SNV Germline	Chr19:12646664	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA9225841	rs_758755293	2 SubmittersRCV003067309
NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)	SNV Germline	Chr19:12647286	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9225891	rs_746571094	2 SubmittersRCV003078576 RCV003078577
NM_000528.4(MAN2B1):c.437-1G>A	SNV Germline	Chr19:12664986	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA9226798	rs_200048536	4 SubmittersRCV002638148
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter)	SNV Germline	Chr19:12658250	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404247892	rs_370760999	1 SubmittersRCV002740239
NM_000528.4(MAN2B1):c.1027-1G>C	SNV Germline	Chr19:12658511	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404249056	rs_2512504273	1 SubmittersRCV002775018
NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)	SNV Germline	Chr19:12664968	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA404255445	rs_2512514994	2 SubmittersRCV002795900
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)	SNV Germline	Chr19:12665382	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404256067	rs_2512516231	1 SubmittersRCV002825067
NM_000528.4(MAN2B1):c.1110-1G>A	SNV Germline	Chr19:12658345	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404248441	rs_1599352199	1 SubmittersRCV002862041
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter)	SNV Germline	Chr19:12652200	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404244071	rs_2512492578	1 SubmittersRCV002847716
NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter)	SNV Germline	Chr19:12664911	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404255039	rs_1445498020	1 SubmittersRCV002928475
NM_000528.4(MAN2B1):c.262+2T>C	SNV Germline	Chr19:12665701	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404257743	rs_2512517362	2 SubmittersRCV002938119
NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp)	SNV Germline	Chr19:12650147	Conflicting classifications of pathogenicity	Deficiency of alpha-mannosidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9226196	rs_150533763	2 SubmittersRCV002979493 RCV003308391
NM_000528.4(MAN2B1):c.909+1G>C	SNV Germline	Chr19:12663316	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404251814	rs_2512511146	1 SubmittersRCV003028154
NM_000528.4(MAN2B1):c.263-1G>A	SNV Germline	Chr19:12665526	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA9226849	rs_752784885	1 SubmittersRCV003035715
NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)	SNV Germline	Chr19:12663370	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404252077	rs_772562587	1 SubmittersRCV003052100
NM_000528.4(MAN2B1):c.1231-6C>T	SNV Germline	Chr19:12658147	Conflicting classifications of pathogenicity	Inborn genetic diseases Deficiency of alpha-mannosidase	Criteria Provided Conflicting Classifications	CA2580096517	rs_2512503266	2 SubmittersRCV002839664 RCV003600446
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)	SNV Unknown	Chr19:12658132	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404247580	rs_2512503237	1 SubmittersRCV003470036
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)	SNV Unknown	Chr19:12647505	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404237883	rs_377752596	1 SubmittersRCV003470037
NM_000528.4(MAN2B1):c.1310-2A>G	SNV Unknown	Chr19:12657557	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404247079	rs_1238492400	1 SubmittersRCV003470038
NM_000528.4(MAN2B1):c.2436+5G>A	SNV Unknown	Chr19:12649131	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA2582717943	rs_2512487741	1 SubmittersRCV003470041
NM_000528.4(MAN2B1):c.1929-2A>T	SNV Unknown	Chr19:12652272	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404244382	rs_2023856348	1 SubmittersRCV003470042
NM_000528.4(MAN2B1):c.1527+1G>A	SNV Unknown	Chr19:12656948	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404246057	rs_1322313985	1 SubmittersRCV003461827
NM_000528.4(MAN2B1):c.437-2A>G	SNV Germline	Chr19:12664987	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404255605	rs_2512515058	2 SubmittersRCV003499104
NM_000528.4(MAN2B1):c.2821-2A>G	SNV Germline	Chr19:12647337	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404237593	rs_2512484545	1 SubmittersRCV003499609
NM_000528.4(MAN2B1):c.1156C>T (p.Gln386Ter)	SNV Germline	Chr19:12658298	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404248193	rs_1447244591	1 SubmittersRCV003498593
NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter)	SNV Germline	Chr19:12648328	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404240179	rs_2512486704	1 SubmittersRCV003499492
NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter)	SNV Germline	Chr19:12664957	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404255352	rs_2512514945	1 SubmittersRCV003600718
NM_000528.4(MAN2B1):c.2437-2A>C	SNV Germline	Chr19:12648404	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404240654	rs_1445197546	1 SubmittersRCV003600832
NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter)	SNV Germline	Chr19:12665713	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404257882	rs_2024217585	1 SubmittersRCV003601596
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)	SNV Germline	Chr19:12663785	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404252917	rs_2512512433	1 SubmittersRCV003601597
NM_000528.4(MAN2B1):c.1528-2A>G	SNV Germline	Chr19:12656689	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404245980	rs_2145253412	1 SubmittersRCV003601464
NM_000528.4(MAN2B1):c.2665-2A>G	SNV Germline	Chr19:12647600	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404238299	rs_2512485224	1 SubmittersRCV003601796
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)	SNV Germline	Chr19:12656670	Pathogenic/Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Multiple Submitters No Conflicts	CA404245861	rs_2023968144	2 SubmittersRCV003602201
NM_000528.4(MAN2B1):c.1419+1G>T	SNV Germline	Chr19:12657445	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404246607	rs_2023994157	1 SubmittersRCV003602128
NM_000528.4(MAN2B1):c.631-2A>C	SNV Germline	Chr19:12663837	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404253114	rs_2512512595	1 SubmittersRCV003600068
NM_000528.4(MAN2B1):c.1527+1G>T	SNV Germline	Chr19:12656948	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404246052	rs_1322313985	1 SubmittersRCV003600207
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter)	SNV Germline	Chr19:12658290	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404248136	rs_2512503667	1 SubmittersRCV003601009
NM_000528.4(MAN2B1):c.263-2A>C	SNV Germline	Chr19:12665527	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter	CA404257623	rs_2512516719	1 SubmittersRCV003601299
NM_000528.4(MAN2B1):c.709C>T (p.Gln237Ter)	SNV Unknown	Chr19:12663757	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter		rs_2512512354	1 SubmittersRCV004576859
NM_000528.4(MAN2B1):c.579G>A (p.Trp193Ter)	SNV Unknown	Chr19:12664843	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter		rs_2512514593	1 SubmittersRCV004576862
NM_000528.4(MAN2B1):c.764-1G>A	SNV Unknown	Chr19:12663463	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter		rs_1555709533	1 SubmittersRCV004576863
NM_000528.4(MAN2B1):c.1419+1G>A	SNV Unknown	Chr19:12657445	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter		rs_2023994157	1 SubmittersRCV004576864
NM_000528.4(MAN2B1):c.1330C>T (p.Gln444Ter)	SNV Unknown	Chr19:12657535	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter		rs_1316039692	1 SubmittersRCV004576865
NM_000528.4(MAN2B1):c.2923+2T>A	SNV Germline	Chr19:12647231	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter			1 SubmittersRCV005026359
NM_000528.4(MAN2B1):c.2581G>T (p.Glu861Ter)	SNV Germline	Chr19:12648258	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter			1 SubmittersRCV005026361
NM_000528.4(MAN2B1):c.1419+2T>C	SNV Germline	Chr19:12657444	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter			1 SubmittersRCV005026363
NM_000528.4(MAN2B1):c.909+1G>A	SNV Germline	Chr19:12663316	Pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter			1 SubmittersRCV005026365
NM_000528.4(MAN2B1):c.464G>A (p.Trp155Ter)	SNV Germline	Chr19:12664958	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter			1 SubmittersRCV005026366
NM_000528.4(MAN2B1):c.1027-2A>G	SNV Germline	Chr19:12658512	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter			1 SubmittersRCV005119201
NM_000528.4(MAN2B1):c.1231-1G>C	SNV Germline	Chr19:12658142	Likely pathogenic	Deficiency of alpha-mannosidase	Criteria Provided Single Submitter			1 SubmittersRCV005196860
NM_000528.4(MAN2B1):c.2455A>T (p.Lys819Ter)	SNV Germline	Chr19:12648384	Likely pathogenic	Deficiency of alpha-mannosidase	No Assertion Criteria Provided			1 SubmittersRCV005611013

NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)

SNV
Germline

Chr19:12665750

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA339900

rs_387906261

4 SubmittersRCV000001752

NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)

SNV
Germline

Chr19:12649418

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA251911

rs_121434331

7 SubmittersRCV000001753

NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)

SNV
Germline

Chr19:12652376

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA251913

rs_121434332

2 SubmittersRCV000001754

NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)

SNV
Germline

Chr19:12649932

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339901

rs_80338680

23 SubmittersRCV000001755 RCV000622985 RCV001091771

NM_000528.4(MAN2B1):c.1830+1G>C

SNV
Germline

Chr19:12655693

Pathogenic

Deficiency of alpha-mannosidase
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341734

rs_80338677

15 SubmittersRCV000020364 RCV000622767 RCV001564933

NM_000528.4(MAN2B1):c.1831-2A>G

SNV
Germline

Chr19:12652462

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA341735

rs_80338678

4 SubmittersRCV000020365

NM_000528.4(MAN2B1):c.2165+1G>A

SNV
Germline

Chr19:12650103

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA341736

rs_80338679

4 SubmittersRCV000020366

NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)

SNV
Germline

Chr19:12649146

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase
MAN2B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341737

rs_80338681

14 SubmittersRCV000020367 RCV004755744

NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)

SNV
Germline

Chr19:12652270

Pathogenic

Condition: not provided
Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA221081

rs_398123455

8 SubmittersRCV000079075 RCV001390130

NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg)

SNV
Germline

Chr19:12649174

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA221083

rs_398123456

2 SubmittersRCV000079076 RCV001775569

NM_000528.4(MAN2B1):c.2436+2T>C

SNV
Germline

Chr19:12649134

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA221084

rs_398123457

6 SubmittersRCV000079077 RCV000410282

NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)

SNV
Germline

Chr19:12647291

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of alpha-mannosidase
not specified

Criteria Provided
Conflicting Classifications

CA221085

rs_148108322

11 SubmittersRCV000675472 RCV001079772 RCV001705728

NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)

SNV
Germline

Chr19:12657482

Pathogenic

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274341

rs_775200333

7 SubmittersRCV000169471 RCV005230031

NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)

SNV
Germline

Chr19:12658428

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA274397

rs_786204715

7 SubmittersRCV000169531

NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)

SNV
Germline

Chr19:12663723

Conflicting classifications of pathogenicity

not specified
Deficiency of alpha-mannosidase
Condition: not provided
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA203023

rs_117843968

10 SubmittersRCV000178787 RCV000528570 RCV001311166 RCV003927668

NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)

SNV
Germline

Chr19:12646657

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA350932

rs_864621991

4 SubmittersRCV000206935

NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)

SNV
Germline

Chr19:12647289

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA350887

rs_768233248

7 SubmittersRCV000206896

NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)

SNV
Germline

Chr19:12647516

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA350936

rs_758765126

6 SubmittersRCV000206938

NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)

SNV
Germline

Chr19:12649170

Likely pathogenic

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350919

rs_864621994

4 SubmittersRCV000206924 RCV003318559

NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)

SNV
Germline

Chr19:12649174

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA350963

rs_398123456

5 SubmittersRCV000206964

NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)

SNV
Germline

Chr19:12650129

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA350952

rs_864621993

6 SubmittersRCV000206950

NM_000528.4(MAN2B1):c.1694T>C (p.Leu565Pro)

SNV
Germline

Chr19:12655830

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA350998

rs_864621986

2 SubmittersRCV000206991

NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)

SNV
Germline

Chr19:12657507

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA350995

rs_864621984

2 SubmittersRCV000206989

NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)

SNV
Germline

Chr19:12657514

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350891

rs_368899357

5 SubmittersRCV000206900 RCV005414477

NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)

SNV
Germline

Chr19:12658113

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
not specified

Criteria Provided
Conflicting Classifications

CA350942

rs_772853856

5 SubmittersRCV000206944 RCV005431541

NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)

SNV
Germline

Chr19:12658250

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350885

rs_370760999

4 SubmittersRCV000206895 RCV001509017

NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro)

SNV
Germline

Chr19:12658474

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA351002

rs_864621992

2 SubmittersRCV000206997

NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)

SNV
Germline

Chr19:12658482

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA350927

rs_864621980

3 SubmittersRCV000206932

NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)

SNV
Germline

Chr19:12663438

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA350992

rs_746808159

6 SubmittersRCV000206987

NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)

SNV
Germline

Chr19:12663781

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase
Condition: not provided
MAN2B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA350933

rs_763257568

10 SubmittersRCV000206936 RCV003238730 RCV004755802

NM_000528.4(MAN2B1):c.599A>T (p.His200Leu)

SNV
Germline

Chr19:12664823

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA350978

rs_864621978

2 SubmittersRCV000206976

NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)

SNV
Germline

Chr19:12664824

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA350939

rs_772108001

5 SubmittersRCV000206941

NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)

SNV
Germline

Chr19:12664832

Likely pathogenic

Deficiency of alpha-mannosidase
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351013

rs_864621977

6 SubmittersRCV000207004 RCV002517904 RCV005625418

NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)

SNV
Germline

Chr19:12665743

Likely pathogenic

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350959

rs_746702002

4 SubmittersRCV000206959 RCV001572479

NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)

SNV
Germline

Chr19:12665801

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA350902

rs_864621975

4 SubmittersRCV000206911

NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)

SNV
Germline

Chr19:12657482

Pathogenic

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9226480

rs_775200333

10 SubmittersRCV000301281 RCV000723878

NM_000528.4(MAN2B1):c.1928+10G>C

SNV
Germline

Chr19:12652353

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of alpha-mannosidase
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226273

rs_200579436

3 SubmittersRCV000277640 RCV001088355 RCV003930123

NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=)

SNV
Germline

Chr19:12658469

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226607

rs_117880912

2 SubmittersRCV000296558 RCV002519297

NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile)

SNV
Germline

Chr19:12655728

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226324

rs_181476648

2 SubmittersRCV000263819 RCV002519316

NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)

SNV
Germline

Chr19:12646665

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA10642318

rs_886054228

2 SubmittersRCV000374686

NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)

SNV
Germline

Chr19:12649920

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided
MAN2B1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9226146

rs_141212446

10 SubmittersRCV000267336 RCV000675478 RCV003940305 RCV003488545

NM_000528.4(MAN2B1):c.2047-5C>T

SNV
Germline

Chr19:12650227

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226211

rs_200424566

4 SubmittersRCV000371511

NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)

SNV
Germline

Chr19:12652446

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226290

rs_369071579

3 SubmittersRCV000375097

NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)

SNV
Germline

Chr19:12656973

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA10642322

rs_886054230

1 SubmittersRCV000387844

NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)

SNV
Germline

Chr19:12657041

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226440

rs_767199154

2 SubmittersRCV000343915

NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)

SNV
Germline

Chr19:12665503

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226844

rs_750997069

3 SubmittersRCV000282921

NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)

SNV
Germline

Chr19:12648220

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9225973

rs_372896479

2 SubmittersRCV000404945

NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)

SNV
Germline

Chr19:12664825

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226773

rs_200872797

3 SubmittersRCV000327235

NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)

SNV
Germline

Chr19:12665370

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA10648318

rs_370803545

8 SubmittersRCV000384198

NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)

SNV
Germline

Chr19:12647291

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9225892

rs_148108322

3 SubmittersRCV000348896

NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)

SNV
Germline

Chr19:12657467

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226475

rs_774396746

3 SubmittersRCV000392764

NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)

SNV
Germline

Chr19:12663371

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226692

rs_139218045

5 SubmittersRCV000263305 RCV003912374

NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)

SNV
Germline

Chr19:12647270

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9225887

rs_142797984

2 SubmittersRCV000282265

NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)

SNV
Germline

Chr19:12648214

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9225971

rs_368834616

4 SubmittersRCV000352799

NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)

SNV
Germline

Chr19:12656628

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226386

rs_771761940

3 SubmittersRCV000349672

NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)

SNV
Germline

Chr19:12663827

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA10652252

rs_886054233

3 SubmittersRCV000380810

NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)

SNV
Germline

Chr19:12647567

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA9225943

rs_767323371

5 SubmittersRCV000411220

NM_000528.4(MAN2B1):c.2664+1G>A

SNV
Germline

Chr19:12648174

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA9225967

rs_771953225

2 SubmittersRCV000411824

NM_000528.4(MAN2B1):c.2047-1G>A

SNV
Unknown

Chr19:12650223

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA16041946

rs_1057517166

1 SubmittersRCV000410754

NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)

SNV
Germline

Chr19:12655837

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA16041949

rs_1057516927

6 SubmittersRCV000409235

NM_000528.4(MAN2B1):c.1528-1G>T

SNV
Germline

Chr19:12656688

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA16041950

rs_561991886

3 SubmittersRCV000411831

NM_000528.4(MAN2B1):c.1309+1G>T

SNV
Unknown

Chr19:12658062

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA16041952

rs_1057516745

2 SubmittersRCV000412292

NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)

SNV
Unknown

Chr19:12658291

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA16041954

rs_1057516524

1 SubmittersRCV000409662

NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)

SNV
Unknown

Chr19:12665511

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA16041957

rs_1057516325

1 SubmittersRCV000410290

NM_000528.4(MAN2B1):c.159+2T>C

SNV
Germline

Chr19:12666541

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA16041958

rs_1057516501

3 SubmittersRCV000409222

NM_000528.4(MAN2B1):c.2356-2A>G

SNV
Germline

Chr19:12649218

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of alpha-mannosidase
Mannosidosis, alpha-, types I and II

Criteria Provided
Multiple Submitters
No Conflicts

CA16620767

rs_1064793936

5 SubmittersRCV000478158 RCV001251160 RCV004527376

NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)

SNV
Germline

Chr19:12652453

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of alpha-mannosidase
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226292

rs_543222535

7 SubmittersRCV000521153 RCV001083132 RCV004755947

NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)

SNV
Germline

Chr19:12655702

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226318

rs_145062583

6 SubmittersRCV000969160 RCV001696924 RCV003915471

NM_000528.4(MAN2B1):c.1110-8C>T

SNV
Germline

Chr19:12658352

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Intellectual disability
MAN2B1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9226579

rs_201690866

5 SubmittersRCV000558708 RCV001252561 RCV003900121 RCV003333994

NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)

SNV
Germline

Chr19:12665404

Pathogenic

Condition: not provided
Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404256264

rs_1555709972

2 SubmittersRCV000594878 RCV001775912

NM_000528.4(MAN2B1):c.2355+5C>G

SNV
Germline

Chr19:12649336

Conflicting classifications of pathogenicity

not specified
Deficiency of alpha-mannosidase
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226071

rs_770412137

3 SubmittersRCV000615262 RCV002532790 RCV003892359

NM_000528.4(MAN2B1):c.1929-1G>T

SNV
Germline

Chr19:12652271

Pathogenic/Likely pathogenic

Inborn genetic diseases
Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA9226259

rs_763100457

5 SubmittersRCV000623252 RCV000668849

NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)

SNV
Germline

Chr19:12657039

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9226437

rs_139435774

7 SubmittersRCV000631885 RCV001529835 RCV001701139

NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)

SNV
Germline

Chr19:12647519

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA404237936

rs_1555706137

3 SubmittersRCV000658011 RCV001194449 RCV001775945

NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)

SNV
Germline

Chr19:12647594

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404238254

rs_1406466561

5 SubmittersRCV000668093

NM_000528.4(MAN2B1):c.2268-1G>C

SNV
Unknown

Chr19:12649429

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA404241811

rs_1555706596

1 SubmittersRCV000672429

NM_000528.4(MAN2B1):c.2820+1G>A

SNV
Germline

Chr19:12647442

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA9225917

rs_768734132

3 SubmittersRCV000671546

NM_000528.4(MAN2B1):c.2436+1G>A

SNV
Unknown

Chr19:12649135

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA305461804

rs_200036864

1 SubmittersRCV000672697

NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)

SNV
Germline

Chr19:12649341

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA305461972

rs_1008745697

4 SubmittersRCV000669668

NM_000528.4(MAN2B1):c.2046+1G>T

SNV
Germline

Chr19:12652152

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404243874

rs_1555707087

2 SubmittersRCV000673482

NM_000528.4(MAN2B1):c.2046+1G>A

SNV
Unknown

Chr19:12652152

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404243876

rs_1555707087

2 SubmittersRCV000674325

NM_000528.4(MAN2B1):c.764-1G>C

SNV
Unknown

Chr19:12663463

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404252420

rs_1555709533

2 SubmittersRCV000670394

NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)

SNV
Unknown

Chr19:12657475

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA404246749

rs_1555708126

1 SubmittersRCV000666098

NM_000528.4(MAN2B1):c.2665-1G>C

SNV
Germline

Chr19:12647599

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA404238291

rs_1555706185

2 SubmittersRCV000671698

NM_000528.4(MAN2B1):c.2046+2T>A

SNV
Germline

Chr19:12652151

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase
Condition: not provided
MAN2B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA9226233

rs_748712495

8 SubmittersRCV000669117 RCV001546799 RCV004756005

NM_000528.4(MAN2B1):c.1527+1G>C

SNV
Germline

Chr19:12656948

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA404246054

rs_1322313985

2 SubmittersRCV000674992

NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)

SNV
Unknown

Chr19:12665734

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404258065

rs_1555710070

2 SubmittersRCV000669543

NM_000528.4(MAN2B1):c.159+1G>A

SNV
Germline

Chr19:12666542

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404260255

rs_1555710254

2 SubmittersRCV000667733

NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)

SNV
Germline

Chr19:12649397

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA9226086

rs_779769525

3 SubmittersRCV000666122

NM_000528.4(MAN2B1):c.1645-2A>T

SNV
Germline

Chr19:12655881

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA305469722

rs_891030696

2 SubmittersRCV000674925

NM_000528.4(MAN2B1):c.1310-1G>A

SNV
Germline

Chr19:12657556

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404247077

rs_1555708156

2 SubmittersRCV000674115

NM_000528.4(MAN2B1):c.1026+2T>C

SNV
Unknown

Chr19:12661258

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA404249989

rs_369099686

1 SubmittersRCV000668825

NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)

SNV
Germline

Chr19:12663382

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of alpha-mannosidase
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226694

rs_45576136

8 SubmittersRCV000675486 RCV001123738 RCV003980297

NM_000528.4(MAN2B1):c.1645-1G>A

SNV
Germline

Chr19:12655880

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA305469714

rs_938576591

6 SubmittersRCV000677673

NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)

SNV
Germline

Chr19:12649931

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226148

rs_373240866

3 SubmittersRCV000714791

NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)

SNV
Germline

Chr19:12658251

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404247900

rs_781291011

4 SubmittersRCV000761476

NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)

SNV
Germline

Chr19:12663370

Likely pathogenic

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9226691

rs_772562587

4 SubmittersRCV000779250 RCV002510974

NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)

SNV
Germline

Chr19:12666637

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9226910

rs_766383135

6 SubmittersRCV000779251 RCV002535649

NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)

SNV
Germline

Chr19:12664860

Pathogenic

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9226780

rs_1429239930

6 SubmittersRCV000781513 RCV003106059

NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)

SNV
Germline

Chr19:12646690

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9225850

rs_753397171

5 SubmittersRCV000804959 RCV004629337 RCV004792495

NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)

SNV
Germline

Chr19:12652363

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404244415

rs_1599344532

4 SubmittersRCV000815618

NM_000528.4(MAN2B1):c.2437-2A>G

SNV
Germline

Chr19:12648404

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404240651

rs_1445197546

4 SubmittersRCV000824138

NM_000528.4(MAN2B1):c.1110-1G>T

SNV
Germline

Chr19:12658345

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404248438

rs_1599352199

1 SubmittersRCV000804900

NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)

SNV
Germline

Chr19:12656955

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9226423

rs_143318498

7 SubmittersRCV000967161 RCV001702868

NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)

SNV
Germline

Chr19:12657482

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226479

rs_775200333

4 SubmittersRCV000963526

NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)

SNV
Germline

Chr19:12658296

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
not specified
Condition: not provided
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226563

rs_112829030

7 SubmittersRCV000968638 RCV001700958 RCV001726399 RCV003928447

NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)

SNV
Germline

Chr19:12664967

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
not specified
Condition: not provided
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226793

rs_200164758

7 SubmittersRCV000968907 RCV004586992 RCV001766798 RCV003960802

NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)

SNV
Germline

Chr19:12665369

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
MAN2B1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9226821

rs_139281846

4 SubmittersRCV000972336 RCV003962890 RCV004792591

NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)

SNV
Germline

Chr19:12652441

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9226289

rs_370382032

4 SubmittersRCV000884804 RCV001759664

NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)

SNV
Germline

Chr19:12655811

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226339

rs_747081586

3 SubmittersRCV000889393

NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)

SNV
Germline

Chr19:12663722

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226728

rs_3745649

3 SubmittersRCV000889406

NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)

SNV
Germline

Chr19:12646683

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9225846

rs_148945108

5 SubmittersRCV000908443 RCV003424465

NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)

SNV
Germline

Chr19:12652192

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226239

rs_762152042

3 SubmittersRCV000909948

NM_000528.4(MAN2B1):c.1230+9G>C

SNV
Germline

Chr19:12658215

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226541

rs_367590716

3 SubmittersRCV000897678

NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)

SNV
Germline

Chr19:12658287

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
MAN2B1-related disorder

Criteria Provided
Conflicting Classifications

CA9226560

rs_762375074

5 SubmittersRCV000929025 RCV003895647

NM_000528.4(MAN2B1):c.2437-5C>G

SNV
Germline

Chr19:12648407

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226011

rs_200695002

4 SubmittersRCV000939012

NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)

SNV
Germline

Chr19:12652236

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404244247

rs_2023854692

2 SubmittersRCV001055647

NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)

SNV
Germline

Chr19:12652245

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404244291

rs_756680048

3 SubmittersRCV001038590

NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr19:12665400

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404256222

rs_1366682636

2 SubmittersRCV001038214

NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)

SNV
Germline

Chr19:12646650

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA505624185

rs_2023694204

2 SubmittersRCV001122461

NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)

SNV
Germline

Chr19:12647273

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA505770578

rs_1376771729

3 SubmittersRCV001125241

NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)

SNV
Germline

Chr19:12648178

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9225968

rs_775212002

4 SubmittersRCV001126213 RCV003413932

NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)

SNV
Germline

Chr19:12648338

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9225997

rs_199967717

3 SubmittersRCV001126214

NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)

SNV
Germline

Chr19:12648370

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226003

rs_561895292

3 SubmittersRCV001126215

NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)

SNV
Germline

Chr19:12658469

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9226606

rs_117880912

4 SubmittersRCV001122644 RCV003405331

NM_000528.4(MAN2B1):c.282C>T (p.His94=)

SNV
Germline

Chr19:12665506

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226845

rs_766810849

3 SubmittersRCV001128451

NM_000528.4(MAN2B1):c.2268-11C>T

SNV
Germline

Chr19:12649439

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226097

rs_537217370

2 SubmittersRCV001128272

NM_000528.4(MAN2B1):c.1231-13C>T

SNV
Germline

Chr19:12658154

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
not specified

Criteria Provided
Conflicting Classifications

CA9226524

rs_372848519

3 SubmittersRCV001128366 RCV003479280

NM_000528.4(MAN2B1):c.1026+8C>T

SNV
Germline

Chr19:12661252

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226634

rs_199908179

2 SubmittersRCV001122645

NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)

SNV
Germline

Chr19:12665718

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404257930

rs_2024217737

3 SubmittersRCV001209865

NM_000528.4(MAN2B1):c.1109+1G>C

SNV
Germline

Chr19:12658427

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404248496

rs_2024027294

2 SubmittersRCV001212173

NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)

SNV
Germline

Chr19:12647269

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404237314

rs_757072948

2 SubmittersRCV001236147

NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)

SNV
Germline

Chr19:12658088

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404247369

rs_2024014272

2 SubmittersRCV001232309

NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)

SNV
Germline

Chr19:12652385

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9226279

rs_141276889

3 SubmittersRCV001239122 RCV003229885

NM_000528.4(MAN2B1):c.1644+4A>G

SNV
Germline

Chr19:12656567

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA631834906

rs_1218254964

1 SubmittersRCV001250248

NM_000528.4(MAN2B1):c.1929-2A>G

SNV
Germline

Chr19:12652272

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404244383

rs_2023856348

3 SubmittersRCV001251285

NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)

SNV
Unknown

Chr19:12665430

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

CA404256548

rs_2024208039

1 SubmittersRCV001252564

NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)

SNV
Germline

Chr19:12663443

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404252342

rs_2024155693

3 SubmittersRCV001255537

NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)

SNV
Germline

Chr19:12652398

Conflicting classifications of pathogenicity

not specified
Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226283

rs_775247526

3 SubmittersRCV001260326 RCV001830061

NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)

SNV
Unknown

Chr19:12647511

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404237908

rs_2023718817

2 SubmittersRCV001263958

NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)

SNV
Unknown

Chr19:12647532

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404237993

rs_139366493

1 SubmittersRCV001263959

NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)

SNV
Unknown

Chr19:12647540

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA9225937

rs_368224056

1 SubmittersRCV001263960

NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)

SNV
Germline

Chr19:12650006

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404242960

rs_2023804275

2 SubmittersRCV001263961

NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)

SNV
Unknown

Chr19:12650178

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404243452

rs_2023809176

1 SubmittersRCV001264121

NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)

SNV
Unknown

Chr19:12650198

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404243570

rs_2023809731

1 SubmittersRCV001264122

NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)

SNV
Unknown

Chr19:12652155

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404243882

rs_2023851530

1 SubmittersRCV001264123

NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)

SNV
Unknown

Chr19:12652174

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404243969

rs_2023852354

1 SubmittersRCV001264124

NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)

SNV
Unknown

Chr19:12652197

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404244054

rs_2023853280

1 SubmittersRCV001264125

NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)

SNV
Germline

Chr19:12655721

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404244739

rs_1224319934

2 SubmittersRCV001264126

NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)

SNV
Unknown

Chr19:12655788

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404244873

rs_2023939487

1 SubmittersRCV001264127

NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)

SNV
Unknown

Chr19:12656670

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404245863

rs_2023968144

1 SubmittersRCV001264247

NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)

SNV
Unknown

Chr19:12656993

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404246286

rs_755508725

1 SubmittersRCV001264248

NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)

SNV
Unknown

Chr19:12657026

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404246423

rs_2023979174

1 SubmittersRCV001264249

NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)

SNV
Unknown

Chr19:12657459

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404246674

rs_2023994563

1 SubmittersRCV001264250

NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)

SNV
Unknown

Chr19:12657502

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404246850

rs_2023996617

1 SubmittersRCV001264251

NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)

SNV
Unknown

Chr19:12661333

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404250540

rs_774034389

1 SubmittersRCV001264252

NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)

SNV
Unknown

Chr19:12663419

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404252249

rs_1329771201

1 SubmittersRCV001264253

NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)

SNV
Germline

Chr19:12664927

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404255126

rs_771479314

2 SubmittersRCV001264254

NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)

SNV
Germline

Chr19:12665496

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404257325

rs_2024210372

2 SubmittersRCV001263679

NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter)

SNV
Germline

Chr19:12655860

Pathogenic

Condition: not provided
Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404245060

rs_376719984

2 SubmittersRCV001268901 RCV001776167

NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)

SNV
Germline

Chr19:12666668

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9226920

rs_747538432

3 SubmittersRCV001300126 RCV003128776

NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)

SNV
Germline

Chr19:12658226

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404247712

rs_2024019978

3 SubmittersRCV001329966

NM_000528.4(MAN2B1):c.2268-2A>T

SNV
Germline

Chr19:12649430

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404241815

rs_2023783146

1 SubmittersRCV001377753

NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)

SNV
Germline

Chr19:12650005

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404242952

rs_1392422167

3 SubmittersRCV001383468

NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)

SNV
Germline

Chr19:12665480

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
not specified

Criteria Provided
Conflicting Classifications

CA404257150

rs_1369134650

3 SubmittersRCV001389809 RCV005237775

NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)

SNV
Germline

Chr19:12649398

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226087

rs_746514019

3 SubmittersRCV001461907

NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter)

SNV
Unknown

Chr19:12648324

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404240156

rs_1291147781

1 SubmittersRCV001506971

NM_000528.4(MAN2B1):c.1528-1G>A

SNV
Germline

Chr19:12656688

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA9226396

rs_561991886

4 SubmittersRCV001783631

NM_000528.4(MAN2B1):c.262+1G>C

SNV
Germline

Chr19:12665702

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404257753

rs_2145290458

1 SubmittersRCV001783632

NM_000528.4(MAN2B1):c.1026+2T>G

SNV
Germline

Chr19:12661258

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA9226636

rs_369099686

3 SubmittersRCV001844512

NM_000528.4(MAN2B1):c.2267+1G>A

SNV
Germline

Chr19:12649912

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA305462644

rs_1022927322

2 SubmittersRCV001977875

NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu)

SNV
Germline

Chr19:12663780

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404252895

rs_574202419

1 SubmittersRCV001991025

NM_000528.4(MAN2B1):c.1527+2T>G

SNV
Germline

Chr19:12656947

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404246043

rs_2145254041

3 SubmittersRCV001930464

NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)

SNV
Germline

Chr19:12655810

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9226337

rs_377104016

3 SubmittersRCV001921103 RCV004988914

NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter)

SNV
Germline

Chr19:12655722

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404244740

rs_2145250103

1 SubmittersRCV001953143

NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)

SNV
Germline

Chr19:12652179

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9226238

rs_770791374

2 SubmittersRCV001899995

NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)

SNV
Germline

Chr19:12649932

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404242568

rs_80338680

1 SubmittersRCV001999253

NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)

SNV
Germline

Chr19:12658337

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA9226574

rs_778554304

2 SubmittersRCV001929997

NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter)

SNV
Germline

Chr19:12666636

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404260842

rs_2145294443

2 SubmittersRCV001909768

NM_000528.4(MAN2B1):c.1420-1G>A

SNV
Germline

Chr19:12657057

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA9226442

rs_752229880

1 SubmittersRCV002035767

NM_000528.4(MAN2B1):c.1420-2A>G

SNV
Germline

Chr19:12657058

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404246549

rs_2145254657

1 SubmittersRCV002032939

NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter)

SNV
Germline

Chr19:12658314

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA9226568

rs_767768982

1 SubmittersRCV001880849

NM_000528.4(MAN2B1):c.2166-2A>G

SNV
Germline

Chr19:12650016

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404243012

rs_2145232776

1 SubmittersRCV001980393

NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)

SNV
Germline

Chr19:12666683

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9226921

rs_199673719

3 SubmittersRCV002042618 RCV004631914

NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)

SNV
Germline

Chr19:12650181

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA9226201

rs_764376758

1 SubmittersRCV002281757

NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)

SNV
Unknown

Chr19:12658136

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404247603

rs_2024015975

1 SubmittersRCV002308055

NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)

SNV
Unknown

Chr19:12652203

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404244085

rs_2512492585

1 SubmittersRCV002306944

NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)

SNV
Unknown

Chr19:12664794

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404254135

rs_2512514346

1 SubmittersRCV002310221

NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)

SNV
Unknown

Chr19:12655729

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404244753

rs_2512497496

1 SubmittersRCV002308397

NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)

SNV
Germline

Chr19:12650004

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA404242947

rs_2512489692

2 SubmittersRCV002461775 RCV003883200

NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)

SNV
Germline

Chr19:12646664

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA9225841

rs_758755293

2 SubmittersRCV003067309

NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)

SNV
Germline

Chr19:12647286

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9225891

rs_746571094

2 SubmittersRCV003078576 RCV003078577

NM_000528.4(MAN2B1):c.437-1G>A

SNV
Germline

Chr19:12664986

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA9226798

rs_200048536

4 SubmittersRCV002638148

NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter)

SNV
Germline

Chr19:12658250

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404247892

rs_370760999

1 SubmittersRCV002740239

NM_000528.4(MAN2B1):c.1027-1G>C

SNV
Germline

Chr19:12658511

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404249056

rs_2512504273

1 SubmittersRCV002775018

NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)

SNV
Germline

Chr19:12664968

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA404255445

rs_2512514994

2 SubmittersRCV002795900

NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr19:12665382

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404256067

rs_2512516231

1 SubmittersRCV002825067

NM_000528.4(MAN2B1):c.1110-1G>A

SNV
Germline

Chr19:12658345

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404248441

rs_1599352199

1 SubmittersRCV002862041

NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter)

SNV
Germline

Chr19:12652200

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404244071

rs_2512492578

1 SubmittersRCV002847716

NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter)

SNV
Germline

Chr19:12664911

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404255039

rs_1445498020

1 SubmittersRCV002928475

NM_000528.4(MAN2B1):c.262+2T>C

SNV
Germline

Chr19:12665701

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404257743

rs_2512517362

2 SubmittersRCV002938119

NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp)

SNV
Germline

Chr19:12650147

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9226196

rs_150533763

2 SubmittersRCV002979493 RCV003308391

NM_000528.4(MAN2B1):c.909+1G>C

SNV
Germline

Chr19:12663316

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404251814

rs_2512511146

1 SubmittersRCV003028154

NM_000528.4(MAN2B1):c.263-1G>A

SNV
Germline

Chr19:12665526

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA9226849

rs_752784885

1 SubmittersRCV003035715

NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)

SNV
Germline

Chr19:12663370

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404252077

rs_772562587

1 SubmittersRCV003052100

NM_000528.4(MAN2B1):c.1231-6C>T

SNV
Germline

Chr19:12658147

Conflicting classifications of pathogenicity

Inborn genetic diseases
Deficiency of alpha-mannosidase

Criteria Provided
Conflicting Classifications

CA2580096517

rs_2512503266

2 SubmittersRCV002839664 RCV003600446

NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)

SNV
Unknown

Chr19:12658132

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404247580

rs_2512503237

1 SubmittersRCV003470036

NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)

SNV
Unknown

Chr19:12647505

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404237883

rs_377752596

1 SubmittersRCV003470037

NM_000528.4(MAN2B1):c.1310-2A>G

SNV
Unknown

Chr19:12657557

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404247079

rs_1238492400

1 SubmittersRCV003470038

NM_000528.4(MAN2B1):c.2436+5G>A

SNV
Unknown

Chr19:12649131

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA2582717943

rs_2512487741

1 SubmittersRCV003470041

NM_000528.4(MAN2B1):c.1929-2A>T

SNV
Unknown

Chr19:12652272

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404244382

rs_2023856348

1 SubmittersRCV003470042

NM_000528.4(MAN2B1):c.1527+1G>A

SNV
Unknown

Chr19:12656948

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404246057

rs_1322313985

1 SubmittersRCV003461827

NM_000528.4(MAN2B1):c.437-2A>G

SNV
Germline

Chr19:12664987

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404255605

rs_2512515058

2 SubmittersRCV003499104

NM_000528.4(MAN2B1):c.2821-2A>G

SNV
Germline

Chr19:12647337

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404237593

rs_2512484545

1 SubmittersRCV003499609

NM_000528.4(MAN2B1):c.1156C>T (p.Gln386Ter)

SNV
Germline

Chr19:12658298

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404248193

rs_1447244591

1 SubmittersRCV003498593

NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter)

SNV
Germline

Chr19:12648328

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404240179

rs_2512486704

1 SubmittersRCV003499492

NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter)

SNV
Germline

Chr19:12664957

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404255352

rs_2512514945

1 SubmittersRCV003600718

NM_000528.4(MAN2B1):c.2437-2A>C

SNV
Germline

Chr19:12648404

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404240654

rs_1445197546

1 SubmittersRCV003600832

NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter)

SNV
Germline

Chr19:12665713

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404257882

rs_2024217585

1 SubmittersRCV003601596

NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)

SNV
Germline

Chr19:12663785

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404252917

rs_2512512433

1 SubmittersRCV003601597

NM_000528.4(MAN2B1):c.1528-2A>G

SNV
Germline

Chr19:12656689

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404245980

rs_2145253412

1 SubmittersRCV003601464

NM_000528.4(MAN2B1):c.2665-2A>G

SNV
Germline

Chr19:12647600

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404238299

rs_2512485224

1 SubmittersRCV003601796

NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)

SNV
Germline

Chr19:12656670

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Multiple Submitters
No Conflicts

CA404245861

rs_2023968144

2 SubmittersRCV003602201

NM_000528.4(MAN2B1):c.1419+1G>T

SNV
Germline

Chr19:12657445

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404246607

rs_2023994157

1 SubmittersRCV003602128

NM_000528.4(MAN2B1):c.631-2A>C

SNV
Germline

Chr19:12663837

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404253114

rs_2512512595

1 SubmittersRCV003600068

NM_000528.4(MAN2B1):c.1527+1G>T

SNV
Germline

Chr19:12656948

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404246052

rs_1322313985

1 SubmittersRCV003600207

NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter)

SNV
Germline

Chr19:12658290

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404248136

rs_2512503667

1 SubmittersRCV003601009

NM_000528.4(MAN2B1):c.263-2A>C

SNV
Germline

Chr19:12665527

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

CA404257623

rs_2512516719

1 SubmittersRCV003601299

NM_000528.4(MAN2B1):c.709C>T (p.Gln237Ter)

SNV
Unknown

Chr19:12663757

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

rs_2512512354

1 SubmittersRCV004576859

NM_000528.4(MAN2B1):c.579G>A (p.Trp193Ter)

SNV
Unknown

Chr19:12664843

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

rs_2512514593

1 SubmittersRCV004576862

NM_000528.4(MAN2B1):c.764-1G>A

SNV
Unknown

Chr19:12663463

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

rs_1555709533

1 SubmittersRCV004576863

NM_000528.4(MAN2B1):c.1419+1G>A

SNV
Unknown

Chr19:12657445

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

rs_2023994157

1 SubmittersRCV004576864

NM_000528.4(MAN2B1):c.1330C>T (p.Gln444Ter)

SNV
Unknown

Chr19:12657535

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

rs_1316039692

1 SubmittersRCV004576865

NM_000528.4(MAN2B1):c.2923+2T>A

SNV
Germline

Chr19:12647231

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

1 SubmittersRCV005026359

NM_000528.4(MAN2B1):c.2581G>T (p.Glu861Ter)

SNV
Germline

Chr19:12648258

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

1 SubmittersRCV005026361

NM_000528.4(MAN2B1):c.1419+2T>C

SNV
Germline

Chr19:12657444

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

1 SubmittersRCV005026363

NM_000528.4(MAN2B1):c.909+1G>A

SNV
Germline

Chr19:12663316

Pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

1 SubmittersRCV005026365

NM_000528.4(MAN2B1):c.464G>A (p.Trp155Ter)

SNV
Germline

Chr19:12664958

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

1 SubmittersRCV005026366

NM_000528.4(MAN2B1):c.1027-2A>G

SNV
Germline

Chr19:12658512

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

1 SubmittersRCV005119201

NM_000528.4(MAN2B1):c.1231-1G>C

SNV
Germline

Chr19:12658142

Likely pathogenic

Deficiency of alpha-mannosidase

Criteria Provided
Single Submitter

1 SubmittersRCV005196860

NM_000528.4(MAN2B1):c.2455A>T (p.Lys819Ter)

SNV
Germline

Chr19:12648384

Likely pathogenic

Deficiency of alpha-mannosidase

No Assertion Criteria Provided

1 SubmittersRCV005611013