Total 97 pathogenic variants reported for Majeed syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) SNV
Germline		 Chr18:2922173 Pathogenic/Likely pathogenic Majeed syndrome
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340316 rs_80338807

6 SubmittersRCV000005190RCV000222509RCV002262558
NM_001375808.2(LPIN2):c.2327+1G>C SNV
Germline		 Chr18:2922046 Pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA342166 rs_80338808

3 SubmittersRCV000020709
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) SNV
Germline		 Chr18:2937869 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome
LPIN2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA342167 rs_80338805

14 SubmittersRCV000020710RCV000755296RCV002262570RCV003982845RCV005237399
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) SNV
Germline		 Chr18:2929105 Conflicting classifications of pathogenicity Majeed syndrome
not specified
Condition: not provided
Autoinflammatory syndrome
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA267513 rs_104895500

14 SubmittersRCV000084067RCV000221897RCV000762223RCV002262674RCV003915108
NM_001375808.2(LPIN2):c.2328-13A>T SNV
Germline		 Chr18:2921660 Conflicting classifications of pathogenicity not specified
Majeed syndrome
Acute myeloid leukemia		 Criteria Provided
Conflicting Classifications
 CA291962 rs_199830303

5 SubmittersRCV000126646RCV001125327RCV005890915
NM_001375808.2(LPIN2):c.2443-9C>T SNV
Germline		 Chr18:2920890 Conflicting classifications of pathogenicity not specified
Majeed syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA291963 rs_191749331

4 SubmittersRCV000126647RCV000536100RCV002262728
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) SNV
Germline		 Chr18:2920416 Conflicting classifications of pathogenicity not specified
Majeed syndrome
Autoinflammatory syndrome
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA291964 rs_149862905

8 SubmittersRCV000126648RCV001000079RCV002262729RCV003945131
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) SNV
Germline		 Chr18:2920359 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome
LPIN2-related disorder
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA8872651 rs_187572602

11 SubmittersRCV000368839RCV001200412RCV002262828RCV003967606RCV005895075
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) SNV
Germline		 Chr18:2920363 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8872654 rs_201160155

8 SubmittersRCV000274408RCV000658798RCV002262820RCV003947730
NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys) SNV
Germline		 Chr18:2929126 Conflicting classifications of pathogenicity Condition: not provided
Majeed syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA8873078 rs_201325845

3 SubmittersRCV000213383RCV001087742RCV002262817
NM_001375808.2(LPIN2):c.1550G>A (p.Arg517His) SNV
Germline		 Chr18:2929065 Pathogenic/Likely pathogenic Condition: not provided
Majeed syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8873070 rs_756933588

2 SubmittersRCV000217293RCV005632336
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) SNV
Germline		 Chr18:2920374 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA8872656 rs_145412418

5 SubmittersRCV001000652RCV001711644RCV002262852
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) SNV
Germline		 Chr18:2920313 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8872637 rs_200648652

11 SubmittersRCV000395862RCV000480316RCV002263038RCV003950114
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser) SNV
Germline		 Chr18:2937728 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8873208 rs_201678207

6 SubmittersRCV000312207RCV000482609RCV004984820
NM_001375808.2(LPIN2):c.*358G>A SNV
Germline		 Chr18:2919935 Conflicting classifications of pathogenicity Majeed syndrome
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10650683 rs_184193388

3 SubmittersRCV000331694RCV002263036RCV003221919
NM_001375808.2(LPIN2):c.-10+1381T>C SNV
Germline		 Chr18:3011706 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10650704 rs_566304730

4 SubmittersRCV000364740RCV001697670RCV003897744
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) SNV
Germline		 Chr18:2922163 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA10651475 rs_886053765

2 SubmittersRCV000369798
NM_001375808.2(LPIN2):c.1456+4C>G SNV
Germline		 Chr18:2931252 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8873108 rs_373685201

6 SubmittersRCV000322162RCV001683314RCV003957669
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) SNV
Germline		 Chr18:2931308 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA8873117 rs_376147435

2 SubmittersRCV000376887
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) SNV
Germline		 Chr18:2931317 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA8873119 rs_143562359

2 SubmittersRCV000287112
NM_001375808.2(LPIN2):c.1168+6C>T SNV
Germline		 Chr18:2937686 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA8873194 rs_200130790

8 SubmittersRCV000396304RCV000788235RCV002263042RCV005894741
NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=) SNV
Germline		 Chr18:2921604 Conflicting classifications of pathogenicity not specified
Majeed syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA8872746 rs_373520277

3 SubmittersRCV000418733RCV000644777RCV002263686
NM_001375808.2(LPIN2):c.1169-3C>T SNV
Germline		 Chr18:2934453 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome
See cases
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8873175 rs_200259086

8 SubmittersRCV000553003RCV001702639RCV002263673RCV002252120RCV003902480
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) SNV
Germline		 Chr18:2920789 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8872695 rs_186864136

7 SubmittersRCV000907144RCV001721332RCV002263688RCV003942417
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=) SNV
Germline		 Chr18:2931365 Conflicting classifications of pathogenicity not specified
Autoinflammatory syndrome
Majeed syndrome		 Criteria Provided
Conflicting Classifications
 CA8873126 rs_773074044

4 SubmittersRCV000429323RCV002263687RCV002521795
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) SNV
Germline		 Chr18:2951199 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided
Autoinflammatory syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA8873555 rs_147615538

7 SubmittersRCV001000957RCV001703462RCV002263672RCV005900838
NM_001375808.2(LPIN2):c.2174+10C>T SNV
Germline		 Chr18:2923765 Conflicting classifications of pathogenicity not specified
Majeed syndrome		 Criteria Provided
Conflicting Classifications
 CA8872830 rs_201227858

2 SubmittersRCV000507075RCV001470528
NM_001375808.2(LPIN2):c.2088G>A (p.Lys696=) SNV
Germline		 Chr18:2923861 Conflicting classifications of pathogenicity Majeed syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8872846 rs_778440902

2 SubmittersRCV000559146RCV004984966
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) SNV
Germline		 Chr18:2925365 Conflicting classifications of pathogenicity Condition: not provided
Majeed syndrome		 Criteria Provided
Conflicting Classifications
 CA8872946 rs_772568696

3 SubmittersRCV000596089RCV001000656
NM_001375808.2(LPIN2):c.516C>T (p.Ala172=) SNV
Germline		 Chr18:2951129 Conflicting classifications of pathogenicity not specified
Majeed syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA8873541 rs_150312425

3 SubmittersRCV000603934RCV000906896RCV002263826
NM_001375808.2(LPIN2):c.517G>A (p.Ala173Thr) SNV
Germline		 Chr18:2951128 Conflicting classifications of pathogenicity Majeed syndrome
Autoinflammatory syndrome
LPIN2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8873539 rs_140609636

5 SubmittersRCV000644770RCV002263881RCV004757267RCV005427203
NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter) SNV
Germline		 Chr18:2951176 Pathogenic Majeed syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA295517131 rs_916009547

2 SubmittersRCV000661951
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) SNV
Germline		 Chr18:2951056 Pathogenic/Likely pathogenic Majeed syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA8873522 rs_750126005

2 SubmittersRCV000687297
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) SNV
Germline		 Chr18:2920879 Conflicting classifications of pathogenicity Majeed syndrome
Autoinflammatory syndrome
Condition: not provided
LPIN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8872706 rs_140249737

7 SubmittersRCV000768259RCV002263967RCV001712746RCV003908077
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) SNV
Germline		 Chr18:2939546 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA8873298 rs_570485374

2 SubmittersRCV000887195
NM_001375808.2(LPIN2):c.*438C>T SNV
Germline		 Chr18:2919855 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA14555318 rs_150379164

3 SubmittersRCV001126200RCV003405333
NM_001375808.2(LPIN2):c.*90C>T SNV
Germline		 Chr18:2920203 Conflicting classifications of pathogenicity Majeed syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA295493680 rs_547359065

3 SubmittersRCV001122534RCV001562293
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr) SNV
Germline		 Chr18:2923788 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA8872832 rs_200256485

2 SubmittersRCV001126292
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) SNV
Germline		 Chr18:2925274 Conflicting classifications of pathogenicity Majeed syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA8872925 rs_148607670

5 SubmittersRCV001126294RCV002264196
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) SNV
Germline		 Chr18:2926800 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA502681170 rs_2077138820

3 SubmittersRCV001128347
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) SNV
Germline		 Chr18:2960787 Conflicting classifications of pathogenicity Majeed syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA8873650 rs_753729438

4 SubmittersRCV001126386RCV002264197
NM_001375808.2(LPIN2):c.2327+10C>T SNV
Germline		 Chr18:2922037 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA8872775 rs_367921036

2 SubmittersRCV001125328
NM_001375808.2(LPIN2):c.590+8T>G SNV
Germline		 Chr18:2951047 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA8873519 rs_760846327

3 SubmittersRCV001126384
NM_001375808.2(LPIN2):c.2207G>A (p.Arg736His) SNV
Germline		 Chr18:2922167 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA8872804 rs_779519224

3 SubmittersRCV001234590
NM_001375808.2(LPIN2):c.698+1G>A SNV
Germline		 Chr18:2940604 Likely pathogenic Majeed syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA401707681 rs_1449758984

2 SubmittersRCV002605572
NM_001375808.2(LPIN2):c.125G>C (p.Ser42Thr) SNV
Germline		 Chr18:2960716 Conflicting classifications of pathogenicity Majeed syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA8873642 rs_201473097

2 SubmittersRCV001339614RCV005437092
NM_001375808.2(LPIN2):c.1621-7T>G SNV
Germline		 Chr18:2927818 Conflicting classifications of pathogenicity Majeed syndrome Criteria Provided
Conflicting Classifications
 CA8873018 rs_758701848

2 SubmittersRCV001362266
NM_001375808.2(LPIN2):c.288+2T>G SNV
Germline		 Chr18:2954502 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401710292 rs_2143137428

1 SubmittersRCV001378100
NM_001375808.2(LPIN2):c.1843G>T (p.Glu615Ter) SNV
Germline		 Chr18:2925319 Pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401701959 rs_2144133234

1 SubmittersRCV001388894
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) SNV
Germline		 Chr18:2938022 Pathogenic/Likely pathogenic Majeed syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA401707036 rs_759667494

2 SubmittersRCV001380459
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser) SNV
Germline		 Chr18:2951223 Conflicting classifications of pathogenicity Majeed syndrome
Autoinflammatory syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8873559 rs_763550824

4 SubmittersRCV001489366RCV002264350RCV006450992RCV006377284
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) SNV
Germline		 Chr18:2938002 Conflicting classifications of pathogenicity Majeed syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA8873262 rs_548077620

3 SubmittersRCV001803591RCV002264390
NM_001375808.2(LPIN2):c.1109C>T (p.Ala370Val) SNV
Germline		 Chr18:2937751 Conflicting classifications of pathogenicity Majeed syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8873214 rs_771059835

2 SubmittersRCV001921310RCV006367670
NM_001375808.2(LPIN2):c.822+2T>G SNV
Germline		 Chr18:2939478 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401707131 rs_2144204081

1 SubmittersRCV002000757
NM_001375808.2(LPIN2):c.2443-2A>G SNV
Germline		 Chr18:2920883 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401694244 rs_2144112758

1 SubmittersRCV001973647
NM_001375808.2(LPIN2):c.2658G>A (p.Pro886=) SNV
Germline		 Chr18:2920326 Conflicting classifications of pathogenicity Majeed syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA8872640 rs_371358114

2 SubmittersRCV002153711RCV002264473
NM_001375808.2(LPIN2):c.1134G>A (p.Pro378=) SNV
Germline		 Chr18:2937726 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Majeed syndrome		 Criteria Provided
Conflicting Classifications
 CA8873206 rs_543890845

2 SubmittersRCV002262014RCV003101478
NM_001375808.2(LPIN2):c.1923C>T (p.Leu641=) SNV
Germline		 Chr18:2925239 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Majeed syndrome		 Criteria Provided
Conflicting Classifications
 CA8872919 rs_183435741

2 SubmittersRCV002262021RCV003505199
NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=) SNV
Germline		 Chr18:2924451 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Majeed syndrome		 Criteria Provided
Conflicting Classifications
 CA502680329 rs_749526038

2 SubmittersRCV002262023RCV003774817
NM_001375808.2(LPIN2):c.2076G>C (p.Gly692=) SNV
Germline		 Chr18:2924409 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Majeed syndrome		 Criteria Provided
Conflicting Classifications
 CA8872874 rs_781016213

2 SubmittersRCV002262024RCV003505200
NM_001375808.2(LPIN2):c.2674C>T (p.Leu892=) SNV
Germline		 Chr18:2920310 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Majeed syndrome		 Criteria Provided
Conflicting Classifications
 CA502676426 rs_1414200193

2 SubmittersRCV002262033RCV005058194
NM_001375808.2(LPIN2):c.1684C>T (p.Arg562Ter) SNV
Germline		 Chr18:2927748 Pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401703574 rs_2510249341

1 SubmittersRCV003041328
NM_001375808.2(LPIN2):c.2125A>T (p.Lys709Ter) SNV
Germline		 Chr18:2923824 Pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401699632 rs_1317098432

1 SubmittersRCV003084369
NM_001375808.2(LPIN2):c.699-1G>T SNV
Germline		 Chr18:2939604 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401707476 rs_2510266165

1 SubmittersRCV002811257
NM_001375808.2(LPIN2):c.699-2A>G SNV
Germline		 Chr18:2939605 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401707478 rs_2510266170

1 SubmittersRCV003021939
NM_001375808.2(LPIN2):c.475A>T (p.Arg159Ter) SNV
Germline		 Chr18:2951170 Pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401708993 rs_2510282875

1 SubmittersRCV003504635
NM_001375808.2(LPIN2):c.1673G>A (p.Trp558Ter) SNV
Germline		 Chr18:2927759 Pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401703604 rs_2510249351

1 SubmittersRCV003504975
NM_001375808.2(LPIN2):c.289-1G>T SNV
Germline		 Chr18:2951357 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA401709407 rs_1196587621

1 SubmittersRCV003611790
NM_001375808.2(LPIN2):c.1938+1G>A SNV
Germline		 Chr18:2925223 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter
 CA8872914 rs_756109661

1 SubmittersRCV003845887
NM_001375808.2(LPIN2):c.1269-2A>G SNV
Germline		 Chr18:2931445 Likely pathogenic Majeed syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005088841
NM_001375808.2(LPIN2):c.1157C>G (p.Ser386Ter) SNV
Germline		 Chr18:2937703 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005638261
NM_001375808.2(LPIN2):c.1168+1G>C SNV
Germline		 Chr18:2937691 Likely pathogenic Majeed syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006483277