Total 40 pathogenic variants reported for Myoglobinuria, acute recurrent, autosomal recessive 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001349206.2(LPIN1):c.643G>T (p.Glu215Ter) SNV
Germline		 Chr2:11773666 Pathogenic Myoglobinuria, acute recurrent, autosomal recessive No Assertion Criteria Provided
 CA117139 rs_119480071

1 SubmittersRCV000005192
NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter) SNV
Germline		 Chr2:11783834 Pathogenic Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117141 rs_119480072

4 SubmittersRCV000005193RCV000760456
NM_001349206.2(LPIN1):c.2509C>T (p.Arg837Ter) SNV
Germline		 Chr2:11819590 Pathogenic Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Single Submitter
 CA117143 rs_119480073

2 SubmittersRCV000005194RCV000760457
NM_001349206.2(LPIN1):c.1549+2T>C SNV
Germline		 Chr2:11785078 Pathogenic Myoglobinuria, acute recurrent, autosomal recessive No Assertion Criteria Provided
 CA212823 rs_730880306

1 SubmittersRCV000005196
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) SNV
Germline		 Chr2:11815120 Pathogenic/Likely pathogenic Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA224182 rs_398124543

4 SubmittersRCV003635903RCV000082648
NM_001349206.2(LPIN1):c.429C>T (p.Ser143=) SNV
Germline		 Chr2:11771512 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1533426 rs_145629147

2 SubmittersRCV000353411RCV002057561
NM_001349206.2(LPIN1):c.966T>C (p.Ser322=) SNV
Germline		 Chr2:11782209 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1533571 rs_777607912

2 SubmittersRCV000402688RCV002521268
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu) SNV
Germline		 Chr2:11782468 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1533633 rs_146529487

4 SubmittersRCV000351789RCV000960465
NM_001349206.2(LPIN1):c.1293C>T (p.Asp431=) SNV
Germline		 Chr2:11783857 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1533664 rs_200898383

2 SubmittersRCV000396641RCV002057562
NM_001349206.2(LPIN1):c.2661G>A (p.Pro887=) SNV
Germline		 Chr2:11824671 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1534169 rs_114931326

3 SubmittersRCV000265840RCV000884357
NM_001349206.2(LPIN1):c.72C>T (p.Pro24=) SNV
Germline		 Chr2:11765613 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided
LPIN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA1533330 rs_137942440

3 SubmittersRCV000363608RCV002057559RCV003957701
NM_001349206.2(LPIN1):c.138C>G (p.Ser46=) SNV
Germline		 Chr2:11765679 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1533340 rs_192688285

2 SubmittersRCV000275107RCV002057560
NM_001349206.2(LPIN1):c.597-4C>T SNV
Germline		 Chr2:11773616 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1533469 rs_777255851

2 SubmittersRCV000323127RCV000949882
NM_001349206.2(LPIN1):c.1083G>A (p.Leu361=) SNV
Germline		 Chr2:11782326 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided
LPIN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA1533597 rs_548508177

3 SubmittersRCV000294503RCV002521269RCV003912387
NM_001349206.2(LPIN1):c.1886+7T>C SNV
Germline		 Chr2:11795494 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1533894 rs_200527588

2 SubmittersRCV000297725RCV002057563
NM_001349206.2(LPIN1):c.1374A>C (p.Gly458=) SNV
Germline		 Chr2:11784901 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1533703 rs_546979072

2 SubmittersRCV000312249RCV001859960
NM_001349206.2(LPIN1):c.1922G>A (p.Arg641His) SNV
Germline		 Chr2:11802942 Conflicting classifications of pathogenicity Condition: not provided
Myoglobinuria, acute recurrent, autosomal recessive
LPIN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_145021638

3 SubmittersRCV000967711RCV001135323RCV003936051
NM_001349206.2(LPIN1):c.2067G>T (p.Thr689=) SNV
Germline		 Chr2:11804476 Conflicting classifications of pathogenicity Condition: not provided
Myoglobinuria, acute recurrent, autosomal recessive		 Criteria Provided
Conflicting Classifications
 rs_369684215

2 SubmittersRCV000967712RCV001130282
NM_001349206.2(LPIN1):c.24C>T (p.Ala8=) SNV
Germline		 Chr2:11765565 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_752905024

2 SubmittersRCV001135184RCV003558700
NM_001349206.2(LPIN1):c.42C>T (p.Thr14=) SNV
Germline		 Chr2:11765583 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_146180669

2 SubmittersRCV001135185RCV002070578
NM_001349206.2(LPIN1):c.309G>T (p.Leu103=) SNV
Germline		 Chr2:11771392 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
LPIN1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_140846512

3 SubmittersRCV001130147RCV003938483RCV002556829
NM_001349206.2(LPIN1):c.438G>A (p.Pro146=) SNV
Germline		 Chr2:11771521 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_762701125

2 SubmittersRCV001130148RCV002558272
NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys) SNV
Germline		 Chr2:11779542 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_141555457

4 SubmittersRCV001130856RCV001759892
NM_001349206.2(LPIN1):c.879C>G (p.Val293=) SNV
Germline		 Chr2:11779567 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided
LPIN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_150089043

3 SubmittersRCV001130857RCV003565464RCV003906245
NM_001349206.2(LPIN1):c.1852G>A (p.Gly618Arg) SNV
Germline		 Chr2:11795453 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_146100011

3 SubmittersRCV001135321RCV001732050
NM_001349206.2(LPIN1):c.1972G>A (p.Val658Ile) SNV
Germline		 Chr2:11802992 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_146048019

5 SubmittersRCV001130279RCV001856691RCV003363117
NM_001349206.2(LPIN1):c.2043C>T (p.Asn681=) SNV
Germline		 Chr2:11804452 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided
LPIN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_372109726

3 SubmittersRCV001130281RCV002070520RCV003963070
NM_001349206.2(LPIN1):c.2343G>A (p.Thr781=) SNV
Germline		 Chr2:11815181 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided
LPIN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_139771618

3 SubmittersRCV001130991RCV002070527RCV003918720
NM_001349206.2(LPIN1):c.2414A>G (p.Glu805Gly) SNV
Germline		 Chr2:11819495 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_771205777

3 SubmittersRCV001130993RCV003574837
NM_001349206.2(LPIN1):c.1265-7G>A SNV
Germline		 Chr2:11783822 Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_376096398

2 SubmittersRCV001133827RCV002556867
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter) SNV
Germline		 Chr2:11783840 Pathogenic/Likely pathogenic Myoglobinuria, acute recurrent, autosomal recessive
See cases
LPIN1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_781748056

4 SubmittersRCV001358672RCV002252674RCV004754740
NM_001349206.2(LPIN1):c.1564C>T (p.Gln522Ter) SNV
Germline		 Chr2:11787088 Pathogenic Myoglobinuria, acute recurrent, autosomal recessive Criteria Provided
Single Submitter
 rs_1674723338

1 SubmittersRCV001783610
NM_001349206.2(LPIN1):c.1807-2A>G SNV
Germline		 Chr2:11795406 Pathogenic/Likely pathogenic Condition: not provided
Myoglobinuria, acute recurrent, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_533651991

3 SubmittersRCV001990266RCV002497902
NM_001349206.2(LPIN1):c.1670C>A (p.Pro557His) SNV
Germline		 Chr2:11788413 Conflicting classifications of pathogenicity Condition: not provided
Myoglobinuria, acute recurrent, autosomal recessive		 Criteria Provided
Conflicting Classifications
 rs_765092602

2 SubmittersRCV002112791RCV003333205