Total 123 pathogenic variants reported for Beta-D-mannosidosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005908.4(MANBA):c.960+1G>A SNV
Germline		 Chr4:102689573 Pathogenic/Likely pathogenic Beta-D-mannosidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA102706045 rs_890870104

7 SubmittersRCV000001744RCV001572804
NM_005908.4(MANBA):c.1705-1G>A SNV
Germline		 Chr4:102650702 Pathogenic Beta-D-mannosidosis No Assertion Criteria Provided
 CA357758131 rs_1730296951

1 SubmittersRCV000001746
NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro) SNV
Germline		 Chr4:102657873 Pathogenic Beta-D-mannosidosis No Assertion Criteria Provided
 CA115137 rs_121434334

1 SubmittersRCV000001747
NM_005908.4(MANBA):c.375A>G (p.Arg125=) SNV
Germline		 Chr4:102723865 Pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA3027256 rs_771587242

3 SubmittersRCV000001748
NM_005908.4(MANBA):c.247G>T (p.Glu83Ter) SNV
Germline		 Chr4:102726614 Pathogenic Beta-D-mannosidosis No Assertion Criteria Provided
 CA115139 rs_121434335

1 SubmittersRCV000001749
NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter) SNV
Germline		 Chr4:102669004 Pathogenic Beta-D-mannosidosis No Assertion Criteria Provided
 CA115141 rs_121434336

1 SubmittersRCV000001750
NM_005908.4(MANBA):c.708G>A (p.Glu236=) SNV
Germline		 Chr4:102690737 Conflicting classifications of pathogenicity Condition: not provided
Beta-D-mannosidosis		 Criteria Provided
Conflicting Classifications
 CA246709 rs_769969734

2 SubmittersRCV000179457RCV003600363
NM_005908.4(MANBA):c.1112+8A>C SNV
Germline		 Chr4:102673911 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA10616838 rs_752741187

2 SubmittersRCV000367783
NM_005908.4(MANBA):c.479G>A (p.Arg160His) SNV
Germline		 Chr4:102722941 Conflicting classifications of pathogenicity Beta-D-mannosidosis
MANBA-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3027208 rs_144917953

4 SubmittersRCV000323955RCV003972468RCV004695770
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) SNV
Germline		 Chr4:102634892 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA3026654 rs_201779762

2 SubmittersRCV000316346
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) SNV
Germline		 Chr4:102639774 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA10617658 rs_886058968

2 SubmittersRCV000292081
NM_005908.4(MANBA):c.531T>C (p.His177=) SNV
Germline		 Chr4:102722889 Conflicting classifications of pathogenicity Beta-D-mannosidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3027199 rs_149902075

3 SubmittersRCV000259278RCV003311773
NM_000137.4(FAH):c.960+1G>A SNV
Germline		 Chr15:80177584 Likely pathogenic Tyrosinemia type I
Beta-D-mannosidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041760 rs_1057517201

3 SubmittersRCV000409775RCV004544721
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) SNV
Germline		 Chr4:102669044 Likely pathogenic Condition: not provided
Beta-D-mannosidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357762250 rs_1553945794

2 SubmittersRCV000512955RCV001375175
NM_005908.4(MANBA):c.1318-1G>T SNV
Germline		 Chr4:102664853 Likely pathogenic Condition: not provided
Beta-D-mannosidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3026933 rs_374545788

2 SubmittersRCV000515074RCV000691116
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) SNV
Germline		 Chr4:102690714 Pathogenic/Likely pathogenic Condition: not provided
Beta-D-mannosidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357769709 rs_1553948361

3 SubmittersRCV000675792RCV002531373
NM_005908.4(MANBA):c.378+1G>A SNV
Germline		 Chr4:102723861 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA3027255 rs_142029636

3 SubmittersRCV000709926
NM_005908.4(MANBA):c.2158-2A>G SNV
Germline		 Chr4:102635047 Pathogenic Beta-D-mannosidosis
Hearing impairment
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3026681 rs_772852668

7 SubmittersRCV000754553RCV001261779RCV004812362
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) SNV
Germline		 Chr4:102657764 Pathogenic/Likely pathogenic Condition: not provided
Beta-D-mannosidosis
MANBA-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3026850 rs_771865668

4 SubmittersRCV000729716RCV001356140RCV003392564
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) SNV
Germline		 Chr4:102690752 Pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA3027126 rs_763849774

2 SubmittersRCV000780390
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) SNV
Germline		 Chr4:102635012 Conflicting classifications of pathogenicity Beta-D-mannosidosis
Condition: not provided
MANBA-related disorder		 Criteria Provided
Conflicting Classifications
 CA3026674 rs_150554352

4 SubmittersRCV000960579RCV003438631RCV003916025
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp) SNV
Germline		 Chr4:102671394 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA3026999 rs_369478532

2 SubmittersRCV001054878
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) SNV
Germline		 Chr4:102634845 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA3026645 rs_767182713

2 SubmittersRCV001145310
NM_005908.4(MANBA):c.2269T>C (p.Leu757=) SNV
Germline		 Chr4:102634934 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA3026660 rs_774068992

2 SubmittersRCV001147254
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) SNV
Germline		 Chr4:102635907 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA3026711 rs_180816849

2 SubmittersRCV001147255
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) SNV
Germline		 Chr4:102639814 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA3026760 rs_781584789

3 SubmittersRCV001148154
NM_005908.4(MANBA):c.1746A>T (p.Ser582=) SNV
Germline		 Chr4:102650660 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA440535166 rs_1730293546

2 SubmittersRCV001148156
NM_005908.4(MANBA):c.111G>T (p.Ser37=) SNV
Germline		 Chr4:102760784 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA440634005 rs_927918838

2 SubmittersRCV001147332
NM_005908.4(MANBA):c.1317+14C>A SNV
Germline		 Chr4:102668949 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA3026943 rs_200935345

2 SubmittersRCV001149707
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter) SNV
Germline		 Chr4:102664772 Pathogenic Beta-D-mannosidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357761073 rs_1208178394

3 SubmittersRCV001194223RCV004699186
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) SNV
Germline		 Chr4:102639805 Conflicting classifications of pathogenicity Intellectual disability
Beta-D-mannosidosis
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA3026755 rs_569997475

7 SubmittersRCV001252566RCV001264746RCV001786457RCV004570645
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) SNV
Germline		 Chr4:102722875 Conflicting classifications of pathogenicity Beta-D-mannosidosis
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA103130023 rs_759103361

5 SubmittersRCV001265535RCV004526822RCV004774369
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) SNV
Germline		 Chr4:102635023 Conflicting classifications of pathogenicity Beta-D-mannosidosis
MANBA-related disorder		 Criteria Provided
Conflicting Classifications
 CA3026676 rs_147437033

3 SubmittersRCV001330146RCV003928842
NM_005908.4(MANBA):c.177+2T>C SNV
Germline		 Chr4:102760716 Pathogenic/Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA103133993 rs_779221957

3 SubmittersRCV001330145
NM_005908.4(MANBA):c.549+1G>A SNV
Germline		 Chr4:102722870 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA357957834 rs_1334537145

3 SubmittersRCV001726523
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) SNV
Germline		 Chr4:102722876 Pathogenic/Likely pathogenic Beta-D-mannosidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3027196 rs_374377679

4 SubmittersRCV001782416RCV004820208
NM_005908.4(MANBA):c.961-2A>C SNV
Germline		 Chr4:102674072 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357765081 rs_1411236177

1 SubmittersRCV003864319
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter) SNV
Germline		 Chr4:102723961 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA103130110 rs_1035305358

1 SubmittersRCV001870727
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter) SNV
Germline		 Chr4:102657758 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357758583 rs_1309076303

1 SubmittersRCV001953560
NM_005908.4(MANBA):c.550-1G>A SNV
Germline		 Chr4:102714562 Likely pathogenic Beta-D-mannosidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3027175 rs_760404534

4 SubmittersRCV002029701RCV005626590
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter) SNV
Germline		 Chr4:102635992 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA3026726 rs_371368353

1 SubmittersRCV001915943
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) SNV
Germline		 Chr4:102657887 Conflicting classifications of pathogenicity Beta-D-mannosidosis
not specified
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA3026873 rs_147542645

6 SubmittersRCV002048507RCV005238178RCV004571983
NM_005908.4(MANBA):c.913G>A (p.Val305Ile) SNV
Germline		 Chr4:102689621 Conflicting classifications of pathogenicity Beta-D-mannosidosis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA357768849 rs_939795867

2 SubmittersRCV002038352RCV003339903
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter) SNV
Germline		 Chr4:102650653 Pathogenic/Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA3026808 rs_759449765

2 SubmittersRCV002281766
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp) SNV
Germline		 Chr4:102634847 Conflicting classifications of pathogenicity Beta-D-mannosidosis Criteria Provided
Conflicting Classifications
 CA102712050 rs_111353791

2 SubmittersRCV003072263
NM_005908.4(MANBA):c.1231-1G>A SNV
Germline		 Chr4:102669050 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA3026962 rs_370801398

1 SubmittersRCV002592144
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter) SNV
Germline		 Chr4:102657852 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357759023 rs_1730640591

1 SubmittersRCV002966964
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter) SNV
Germline		 Chr4:102650682 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357758088 rs_2476758160

1 SubmittersRCV003031920
NM_005908.4(MANBA):c.273-1G>A SNV
Germline		 Chr4:102723968 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA357958447 rs_2476909407

2 SubmittersRCV003226772
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter) SNV
Germline		 Chr4:102690753 Pathogenic/Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA357770125 rs_1732439983

3 SubmittersRCV003387494
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp) SNV
Germline		 Chr4:102671349 Conflicting classifications of pathogenicity Beta-D-mannosidosis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3026990 rs_372595221

2 SubmittersRCV003387495RCV004985339
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter) SNV
Germline		 Chr4:102657763 Pathogenic/Likely pathogenic MANBA-related disorder
Beta-D-mannosidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357758606 rs_1266964950

2 SubmittersRCV003429116RCV003498005
NM_005908.4(MANBA):c.1112+1G>T SNV
Germline		 Chr4:102673918 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA3027022 rs_145931742

1 SubmittersRCV003499529
NM_005908.4(MANBA):c.272+2T>C SNV
Germline		 Chr4:102726587 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357958452 rs_2476918631

1 SubmittersRCV003499248
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter) SNV
Germline		 Chr4:102673935 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA3027025 rs_781133275

1 SubmittersRCV003499705
NM_005908.4(MANBA):c.674-1G>C SNV
Germline		 Chr4:102690772 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357770363 rs_2476807665

1 SubmittersRCV003497457
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter) SNV
Germline		 Chr4:102689664 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357769077 rs_2476805306

1 SubmittersRCV003497621
NM_005908.4(MANBA):c.378+2T>C SNV
Germline		 Chr4:102723860 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357958199 rs_2476908784

1 SubmittersRCV003600647
NM_005908.4(MANBA):c.2015-1G>A SNV
Germline		 Chr4:102636008 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357757420 rs_2476721955

1 SubmittersRCV003600700
NM_005908.4(MANBA):c.673+1G>A SNV
Germline		 Chr4:102714437 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA3027158 rs_200384040

2 SubmittersRCV003601553
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter) SNV
Germline		 Chr4:102657825 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357758905 rs_2476765995

1 SubmittersRCV003602259
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter) SNV
Germline		 Chr4:102657833 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA102690167 rs_866558712

1 SubmittersRCV003602185
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter) SNV
Germline		 Chr4:102634959 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357756910 rs_1729554501

1 SubmittersRCV003602123
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter) SNV
Germline		 Chr4:102671342 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357764117 rs_1270359418

1 SubmittersRCV003602175
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter) SNV
Germline		 Chr4:102689661 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA3027073 rs_777415626

1 SubmittersRCV003602370
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter) SNV
Germline		 Chr4:102722873 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357957842 rs_2476904924

1 SubmittersRCV003599979
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter) SNV
Germline		 Chr4:102635042 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357757081 rs_2476717919

1 SubmittersRCV003600012
NM_005908.4(MANBA):c.178-2A>G SNV
Germline		 Chr4:102726685 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA3027300 rs_769079323

1 SubmittersRCV003600149
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter) SNV
Germline		 Chr4:102657738 Pathogenic/Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA102690090 rs_780068572

2 SubmittersRCV003601035
NM_005908.4(MANBA):c.1705-2A>G SNV
Germline		 Chr4:102650703 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA3026815 rs_767086387

1 SubmittersRCV003600978
NM_005908.4(MANBA):c.1704+1G>T SNV
Germline		 Chr4:102657681 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA3026833 rs_767174204

3 SubmittersRCV003601155
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter) SNV
Germline		 Chr4:102669045 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357762260 rs_1267827826

1 SubmittersRCV003601309
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter) SNV
Germline		 Chr4:102723920 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA103130105 rs_1054688954

1 SubmittersRCV003601951
NM_005908.4(MANBA):c.674-2A>G SNV
Germline		 Chr4:102690773 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357770379 rs_1312379571

1 SubmittersRCV003816126
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter) SNV
Germline		 Chr4:102690697 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357769561 rs_1249251683

1 SubmittersRCV003865407
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter) SNV
Germline		 Chr4:102657805 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357758809 rs_903990993

1 SubmittersRCV003856341
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter) SNV
Germline		 Chr4:102690661 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357769281 rs_1164262919

1 SubmittersRCV003866662
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter) SNV
Germline		 Chr4:102690664 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357769290 rs_1437481110

1 SubmittersRCV003874596
NM_005908.4(MANBA):c.651C>G (p.Tyr217Ter) SNV
Germline		 Chr4:102714460 Pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter
 CA357773166 rs_2476875909

1 SubmittersRCV004527514
NM_005908.4(MANBA):c.2053C>T (p.Gln685Ter) SNV
Germline		 Chr4:102635969 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005024916
NM_005908.4(MANBA):c.1990C>T (p.Gln664Ter) SNV
Germline		 Chr4:102639737 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005024917
NM_005908.4(MANBA):c.1867C>T (p.Gln623Ter) SNV
Germline		 Chr4:102650539 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005037259
NM_005908.4(MANBA):c.1064C>G (p.Ser355Ter) SNV
Germline		 Chr4:102673967 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005037260
NM_005908.4(MANBA):c.379-1G>A SNV
Germline		 Chr4:102723042 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005156784
NM_005908.4(MANBA):c.1202A>G (p.Tyr401Cys) SNV
Unknown		 Chr4:102671309 Likely pathogenic Beta-D-mannosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005411046
NM_005908.4(MANBA):c.850-1G>T SNV
Germline		 Chr4:102689685 Likely pathogenic Beta-D-mannosidosis No Assertion Criteria Provided

1 SubmittersRCV005622831