Total 396 pathogenic variants reported for Deficiency of alpha-mannosidase 
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 SubmittersRCV000001755RCV000622985RCV001091771

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 SubmittersRCV000020364RCV000622767RCV001564933

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 SubmittersRCV000020367RCV004755744

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 SubmittersRCV000079075RCV001390130

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 SubmittersRCV000079076RCV001775569

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 SubmittersRCV000079077RCV000410282

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 SubmittersRCV000675472RCV001079772RCV001705728

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 SubmittersRCV000169471RCV005230031

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 SubmittersRCV000178787RCV000528570RCV001311166RCV003927668

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 SubmittersRCV000206924RCV003318559

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 SubmittersRCV000206900RCV005414477

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 SubmittersRCV000206944RCV005431541

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 SubmittersRCV000206895RCV001509017

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 SubmittersRCV000206936RCV003238730RCV004755802

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 SubmittersRCV000207004RCV002517904RCV005625418

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 SubmittersRCV000206959RCV001572479

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 SubmittersRCV000301281RCV000723878

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 SubmittersRCV000277640RCV001088355RCV003930123

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 SubmittersRCV000296558RCV002519297

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 SubmittersRCV000263819RCV002519316

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 SubmittersRCV000267336RCV000675478RCV003940305RCV003488545

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 SubmittersRCV000263305RCV003912374

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 SubmittersRCV000478158RCV001251160RCV004527376

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 SubmittersRCV000521153RCV001083132RCV004755947

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 SubmittersRCV000969160RCV001696924RCV003915471

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 SubmittersRCV000558708RCV001252561RCV003900121RCV003333994

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 SubmittersRCV000594878RCV001775912

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 SubmittersRCV000615262RCV002532790RCV003892359

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 SubmittersRCV000623252RCV000668849

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 SubmittersRCV000631885RCV001529835RCV001701139

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 SubmittersRCV000658011RCV001194449RCV001775945

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 SubmittersRCV000669117RCV001546799RCV004756005

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 SubmittersRCV000675486RCV001123738RCV003980297

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 SubmittersRCV000779250RCV002510974

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 SubmittersRCV000779251RCV002535649

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 SubmittersRCV000781513RCV003106059

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 SubmittersRCV000804959RCV004629337RCV004792495

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 SubmittersRCV000967161RCV001702868

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 SubmittersRCV000968638RCV001700958RCV001726399RCV003928447

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 SubmittersRCV000968907RCV004586992RCV001766798RCV003960802

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 SubmittersRCV000972336RCV003962890RCV004792591

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 SubmittersRCV000884804RCV001759664

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 SubmittersRCV000908443RCV003424465

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 SubmittersRCV000929025RCV003895647

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 SubmittersRCV001126213RCV003413932

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 SubmittersRCV001122644RCV003405331

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 SubmittersRCV001128366RCV003479280

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 SubmittersRCV001239122RCV003229885

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 SubmittersRCV001260326RCV001830061

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 SubmittersRCV001268901RCV001776167

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 SubmittersRCV001300126RCV003128776

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 SubmittersRCV001389809RCV005237775

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 SubmittersRCV001921103RCV004988914

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 SubmittersRCV002042618RCV004631914

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 SubmittersRCV002461775RCV003883200

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 SubmittersRCV003078576RCV003078577

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 SubmittersRCV002979493RCV003308391

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 SubmittersRCV002839664RCV003600446

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