Total 111 pathogenic variants reported for Abetalipoproteinaemia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) SNV
Germline		 Chr4:99611156 Pathogenic Abetalipoproteinaemia
Condition: not provided
MTTP-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123818 rs_199422219

6 SubmittersRCV000015303RCV001851870RCV003398517
NM_001386140.1(MTTP):c.1867+5G>A SNV
Germline		 Chr4:99611245 Pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA553129592 rs_1429774833

5 SubmittersRCV000015304RCV003556024
NM_001386140.1(MTTP):c.1237-1G>A SNV
Germline		 Chr4:99601606 Pathogenic Abetalipoproteinaemia No Assertion Criteria Provided
 CA357508870 rs_1560621444

1 SubmittersRCV000015305
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) SNV
Germline		 Chr4:99608827 Pathogenic/Likely pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123820 rs_199422220

11 SubmittersRCV000015306RCV001222493
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) SNV
Germline		 Chr4:99619094 Pathogenic Abetalipoproteinaemia No Assertion Criteria Provided
 CA123821 rs_199422221

2 SubmittersRCV000015308
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) SNV
Germline		 Chr4:99608977 Pathogenic Abetalipoproteinaemia No Assertion Criteria Provided
 CA123822 rs_199422222

2 SubmittersRCV000015309
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) SNV
Germline		 Chr4:99622756 Pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123825 rs_146064714

7 SubmittersRCV000015311RCV000760413
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) SNV
Germline		 Chr4:99589668 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia
MTTP-related disorder
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA245905 rs_61733140

8 SubmittersRCV000178738RCV001151100RCV003937616RCV005891981
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) SNV
Germline		 Chr4:99621151 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia
not specified
MTTP-related disorder		 Criteria Provided
Conflicting Classifications
 CA3022360 rs_144590904

12 SubmittersRCV000338031RCV000625396RCV001700028RCV004752823
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) SNV
Germline		 Chr4:99612948 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Conflicting Classifications
 CA3022277 rs_79023226

4 SubmittersRCV000277823RCV001145100
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) SNV
Germline		 Chr4:99608923 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Conflicting Classifications
 CA3022160 rs_772602972

3 SubmittersRCV000316882RCV001828278
NM_001386140.1(MTTP):c.799T>C (p.Leu267=) SNV
Germline		 Chr4:99594773 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3021953 rs_7672497

3 SubmittersRCV000403692RCV000921720
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) SNV
Germline		 Chr4:99622820 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia
MTTP-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3022422 rs_144600401

12 SubmittersRCV001245458RCV000601949RCV004752870RCV004021936
NM_001386140.1(MTTP):c.394-7C>T SNV
Germline		 Chr4:99589636 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3021840 rs_368989581

4 SubmittersRCV000362686RCV000894325
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) SNV
Germline		 Chr4:99597180 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3022007 rs_145724674

6 SubmittersRCV000307655RCV000894326RCV001700335
NM_001386140.1(MTTP):c.1558-2A>G SNV
Unknown		 Chr4:99608764 Likely pathogenic Abetalipoproteinaemia No Assertion Criteria Provided
 CA357511969 rs_1553927840

1 SubmittersRCV000674027
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) SNV
Germline		 Chr4:99618993 Likely pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA3022325 rs_767833468

2 SubmittersRCV000770995RCV002533982
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) SNV
Germline		 Chr4:99583431 Pathogenic/Likely pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357502184 rs_1560614646

2 SubmittersRCV000781607RCV000815577
NM_001386140.1(MTTP):c.1868-2A>G SNV
Germline		 Chr4:99611330 Likely pathogenic Condition: not provided
Abetalipoproteinaemia
MTTP-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3022231 rs_760547155

4 SubmittersRCV000801014RCV001275667RCV003392605
NM_001386140.1(MTTP):c.1867+1G>A SNV
Germline		 Chr4:99611241 Pathogenic Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA102642976 rs_764189338

5 SubmittersRCV000791633RCV001532971
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) SNV
Germline		 Chr4:99581967 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Conflicting Classifications
 CA3021746 rs_756998920

4 SubmittersRCV000889102RCV001147757
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) SNV
Germline		 Chr4:99597072 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Conflicting Classifications
 CA3021991 rs_199716549

4 SubmittersRCV000892865RCV001146949
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) SNV
Germline		 Chr4:99597129 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Conflicting Classifications
 CA3021998 rs_146953015

3 SubmittersRCV000910632RCV001147853
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) SNV
Germline		 Chr4:99581954 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia
MTTP-related disorder		 Criteria Provided
Conflicting Classifications
 CA3021744 rs_147921439

5 SubmittersRCV000941545RCV001147756RCV003960546
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) SNV
Germline		 Chr4:99608826 Pathogenic/Likely pathogenic Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3022145 rs_372321643

6 SubmittersRCV001042370RCV001275665
NM_001386140.1(MTTP):c.756G>A (p.Ser252=) SNV
Germline		 Chr4:99591788 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3021930 rs_750749323

2 SubmittersRCV001144995RCV002070749
NM_001386140.1(MTTP):c.927G>A (p.Arg309=) SNV
Germline		 Chr4:99597084 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA102628954 rs_1001965936

2 SubmittersRCV001147852RCV003769709
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) SNV
Germline		 Chr4:99619076 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3022333 rs_148362467

3 SubmittersRCV001145102RCV001858952
NM_001386140.1(MTTP):c.393+11G>A SNV
Germline		 Chr4:99583528 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3021817 rs_367982075

2 SubmittersRCV001151099RCV001464504
NM_001386140.1(MTTP):c.502-12C>T SNV
Germline		 Chr4:99591223 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3021873 rs_200628118

2 SubmittersRCV001144994RCV002070748
NM_001386140.1(MTTP):c.1769+12T>C SNV
Germline		 Chr4:99608989 Conflicting classifications of pathogenicity Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3022173 rs_767162951

2 SubmittersRCV001149396RCV003679043
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) SNV
Germline		 Chr4:99619085 Pathogenic/Likely pathogenic Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357518531 rs_777548973

2 SubmittersRCV001229404RCV003142191
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter) SNV
Unknown		 Chr4:99583482 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357502404 rs_1725178752

1 SubmittersRCV001264268
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter) SNV
Germline		 Chr4:99589649 Pathogenic/Likely pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3021844 rs_760855321

2 SubmittersRCV001264269RCV003770376
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter) SNV
Unknown		 Chr4:99591316 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357504580 rs_1725413862

1 SubmittersRCV001264270
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter) SNV
Unknown		 Chr4:99594749 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357505676 rs_1283854712

1 SubmittersRCV001263695
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter) SNV
Unknown		 Chr4:99594877 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357506251 rs_1725516307

1 SubmittersRCV001263696
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter) SNV
Unknown		 Chr4:99597224 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357507214 rs_1725580386

1 SubmittersRCV001263697
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter) SNV
Unknown		 Chr4:99600596 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357507969 rs_1171996547

1 SubmittersRCV001263698
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter) SNV
Unknown		 Chr4:99600614 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357508046 rs_1725671165

1 SubmittersRCV001263699
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter) SNV
Unknown		 Chr4:99601691 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357509546 rs_1486643983

1 SubmittersRCV001263700
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter) SNV
Unknown		 Chr4:99601697 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357509583 rs_1725702758

1 SubmittersRCV001263701
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter) SNV
Unknown		 Chr4:99606770 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357510171 rs_1725826321

1 SubmittersRCV001263702
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) SNV
Germline		 Chr4:99608913 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Multiple Submitters
No Conflicts
 CA357513128 rs_1725885571

2 SubmittersRCV001263775
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter) SNV
Unknown		 Chr4:99608925 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357513215 rs_1725886004

1 SubmittersRCV001263776
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter) SNV
Unknown		 Chr4:99611423 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357516091 rs_1725953201

1 SubmittersRCV001263777
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter) SNV
Unknown		 Chr4:99612944 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357516596 rs_1725996321

1 SubmittersRCV001263778
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter) SNV
Unknown		 Chr4:99613048 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357517171 rs_1726001209

1 SubmittersRCV001263779
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter) SNV
Unknown		 Chr4:99619016 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357518242 rs_1726166189

1 SubmittersRCV001263780
NM_001386140.1(MTTP):c.502-2A>G SNV
Germline		 Chr4:99591233 Likely pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357504315 rs_1725410386

2 SubmittersRCV001329129RCV002546305
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter) SNV
Unknown		 Chr4:99622741 Pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357520351 rs_1726269709

1 SubmittersRCV001329127
NM_001386140.1(MTTP):c.1067+1G>C SNV
Germline		 Chr4:99597225 Likely pathogenic Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3022015 rs_752343394

2 SubmittersRCV001377084RCV005038160
NM_001386140.1(MTTP):c.501+8C>T SNV
Germline		 Chr4:99589758 Conflicting classifications of pathogenicity Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Conflicting Classifications
 CA3021859 rs_773537875

2 SubmittersRCV001441923RCV003227976
NM_001386140.1(MTTP):c.501+1G>A SNV
Germline		 Chr4:99589751 Pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357503969 rs_2110217173

1 SubmittersRCV001784684
NM_001386140.1(MTTP):c.502-1G>C SNV
Germline		 Chr4:99591234 Likely pathogenic Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357504318 rs_1449774712

2 SubmittersRCV002038571RCV005025669
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter) SNV
Unknown		 Chr4:99608964 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357513531 rs_2476141732

1 SubmittersRCV002309597
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter) SNV
Unknown		 Chr4:99611397 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357515977 rs_1472530614

1 SubmittersRCV002309810
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter) SNV
Unknown		 Chr4:99581957 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357500679 rs_956227338

1 SubmittersRCV002307970
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter) SNV
Unknown		 Chr4:99594782 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357505747 rs_2476113393

1 SubmittersRCV002309352
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter) SNV
Unknown		 Chr4:99583458 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357502304 rs_2476090213

1 SubmittersRCV002307225
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter) SNV
Germline		 Chr4:99618984 Pathogenic/Likely pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357518112 rs_2476158124

2 SubmittersRCV002310145RCV003565517
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter) SNV
Unknown		 Chr4:99600603 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357507995 rs_2476124246

1 SubmittersRCV002310264
NM_001386140.1(MTTP):c.62-2A>G SNV
Germline		 Chr4:99581903 Likely pathogenic Condition: not provided
Abetalipoproteinaemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357500474 rs_1235583687

2 SubmittersRCV002664345RCV005028331
NM_001386140.1(MTTP):c.2342+1G>A SNV
Germline		 Chr4:99619099 Pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357518589 rs_1458456081

1 SubmittersRCV003155786
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter) SNV
Germline		 Chr4:99591762 Pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter
 CA357505487 rs_17599091

1 SubmittersRCV003486279
NM_001386140.1(MTTP):c.61+2T>C SNV
Germline		 Chr4:99574972 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter

1 SubmittersRCV004789685
NM_001386140.1(MTTP):c.1344+2T>A SNV
Germline		 Chr4:99601716 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter

1 SubmittersRCV004789703
NM_001386140.1(MTTP):c.1072C>T (p.Gln358Ter) SNV
Germline		 Chr4:99600569 Likely pathogenic Abetalipoproteinaemia Criteria Provided
Single Submitter

1 SubmittersRCV004785801
NM_001386140.1(MTTP):c.910-2A>C SNV
Germline		 Chr4:99597065 Likely pathogenic Abetalipoproteinaemia No Assertion Criteria Provided

1 SubmittersRCV005618573
NM_001386140.1(MTTP):c.2218-1G>A SNV
Germline		 Chr4:99618973 Pathogenic Abetalipoproteinaemia No Assertion Criteria Provided

1 SubmittersRCV005605341
NM_001386140.1(MTTP):c.1769+1G>A SNV
Germline		 Chr4:99608978 Pathogenic Abetalipoproteinaemia No Assertion Criteria Provided

1 SubmittersRCV005605350
NM_001386140.1(MTTP):c.1769+2T>C SNV
Germline		 Chr4:99608979 Pathogenic/Likely pathogenic Abetalipoproteinaemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005637750RCV006605439