| NM_001349206.2(LPIN1):c.723-2A>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002506266]|not provided [RCV000519553] |
Chr2:11776084 [GRCh38]
Chr2:11916210 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2365C>A (p.Leu789Met) |
single nucleotide variant |
not provided [RCV000520738]|not specified [RCV000791073] |
Chr2:11815203 [GRCh38]
Chr2:11955329 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.643G>T (p.Glu215Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005192] |
Chr2:11773666 [GRCh38]
Chr2:11913792 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005193]|not provided [RCV000760456] |
Chr2:11783834 [GRCh38]
Chr2:11923960 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.2509C>T (p.Arg837Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005194]|not provided [RCV000760457] |
Chr2:11819590 [GRCh38]
Chr2:11959716 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_145693.2(LPIN1):c.2295-?_2513+?del |
deletion |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005195] |
Chr2:11819483..11820515 [GRCh38]
Chr2:11959609..11960641 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.1549+2T>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005196] |
Chr2:11785078 [GRCh38]
Chr2:11925204 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001261428.3(LPIN1):c.82-285A>G |
single nucleotide variant |
not provided [RCV001571572] |
Chr2:11713471 [GRCh38]
Chr2:11853597 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.669C>G (p.Tyr223Ter) |
single nucleotide variant |
not provided [RCV000722575] |
Chr2:11773692 [GRCh38]
Chr2:11913818 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.-10+4A>G |
single nucleotide variant |
not provided [RCV000522800] |
Chr2:11746675 [GRCh38]
Chr2:11886801 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1583A>G (p.Gln528Arg) |
single nucleotide variant |
not provided [RCV000519813] |
Chr2:11787107 [GRCh38]
Chr2:11927233 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.2(LPIN1):c.-9-576C>T |
single nucleotide variant |
Lung cancer [RCV000091227] |
Chr2:11764957 [GRCh38]
Chr2:11905083 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 |
copy number gain |
See cases [RCV000052928] |
Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3 |
pathogenic |
| GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 |
copy number gain |
See cases [RCV000052929] |
Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1 |
pathogenic |
| GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 |
copy number gain |
See cases [RCV000052931] |
Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3 |
pathogenic |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| GRCh38/hg38 2p25.1-24.3(chr2:10216779-13474790)x3 |
copy number gain |
See cases [RCV000052627] |
Chr2:10216779..13474790 [GRCh38]
Chr2:10356905..13614915 [GRCh37]
Chr2:10274356..13532366 [NCBI36]
Chr2:2p25.1-24.3 |
uncertain significance |
| GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 |
copy number loss |
See cases [RCV000053978] |
Chr2:6531172..16103799 [GRCh38]
Chr2:6671304..16243921 [GRCh37]
Chr2:6588755..16161372 [NCBI36]
Chr2:2p25.2-24.3 |
pathogenic |
| NM_145693.2(LPIN1):c.620C>T (p.Pro207Leu) |
single nucleotide variant |
Malignant melanoma [RCV000060307] |
Chr2:11773643 [GRCh38]
Chr2:11913769 [GRCh37]
Chr2:11831220 [NCBI36]
Chr2:2p25.1 |
not provided |
| NM_001349206.2(LPIN1):c.192+17C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001730510]|not provided [RCV002055229]|not specified [RCV000082647] |
Chr2:11765750 [GRCh38]
Chr2:11905876 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV003635903]|not provided [RCV000082648] |
Chr2:11815120 [GRCh38]
Chr2:11955246 [GRCh37]
Chr2:2p25.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001349206.2(LPIN1):c.552C>T (p.Ile184=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000260825]|not provided [RCV002055230]|not specified [RCV000082649] |
Chr2:11771635 [GRCh38]
Chr2:11911761 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.2013+148T>C |
single nucleotide variant |
not provided [RCV001545893] |
Chr2:11803181 [GRCh38]
Chr2:11943307 [GRCh37]
Chr2:2p25.1 |
likely benign |
| GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 |
copy number gain |
See cases [RCV000135398] |
Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2 |
pathogenic |
| GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 |
copy number gain |
See cases [RCV000137344] |
Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3 |
pathogenic |
| GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 |
copy number gain |
See cases [RCV000137913] |
Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 |
copy number gain |
See cases [RCV000141226] |
Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1 |
pathogenic |
| GRCh38/hg38 2p25.1(chr2:11616843-11804136)x3 |
copy number gain |
See cases [RCV000141053] |
Chr2:11616843..11804136 [GRCh38]
Chr2:11756969..11944262 [GRCh37]
Chr2:11674420..11861713 [NCBI36]
Chr2:2p25.1 |
likely benign |
| GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 |
copy number gain |
See cases [RCV000141829] |
Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3 |
pathogenic |
| GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 |
copy number gain |
See cases [RCV000141877] |
Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3 |
pathogenic |
| GRCh38/hg38 2p25.1(chr2:11270488-11924312)x3 |
copy number gain |
See cases [RCV000141963] |
Chr2:11270488..11924312 [GRCh38]
Chr2:11410614..12064438 [GRCh37]
Chr2:11328065..11981889 [NCBI36]
Chr2:2p25.1 |
uncertain significance |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3 |
copy number gain |
See cases [RCV000142512] |
Chr2:10790663..14417134 [GRCh38]
Chr2:10930789..14557258 [GRCh37]
Chr2:10848240..14474709 [NCBI36]
Chr2:2p25.1-24.3 |
pathogenic |
| GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21 |
pathogenic |
| NM_001349206.2(LPIN1):c.1293C>T (p.Asp431=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000396641]|not provided [RCV002057562] |
Chr2:11783857 [GRCh38]
Chr2:11923983 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.966T>C (p.Ser322=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000402688]|not provided [RCV002521268] |
Chr2:11782209 [GRCh38]
Chr2:11922335 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1886+7T>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000297725]|not provided [RCV002057563] |
Chr2:11795494 [GRCh38]
Chr2:11935620 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1083G>A (p.Leu361=) |
single nucleotide variant |
LPIN1-related condition [RCV003912387]|Myoglobinuria, acute recurrent, autosomal recessive [RCV000294503]|not provided [RCV002521269] |
Chr2:11782326 [GRCh38]
Chr2:11922452 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.138C>G (p.Ser46=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000275107]|not provided [RCV002057560] |
Chr2:11765679 [GRCh38]
Chr2:11905805 [GRCh37]
Chr2:2p25.1 |
benign|uncertain significance |
| NM_001349206.2(LPIN1):c.110G>A (p.Arg37His) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000276432]|not provided [RCV002521267] |
Chr2:11765651 [GRCh38]
Chr2:11905777 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2661G>A (p.Pro887=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000265840]|not provided [RCV000884357] |
Chr2:11824671 [GRCh38]
Chr2:11964797 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.616C>G (p.Pro206Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003243087]|Myoglobinuria, acute recurrent, autosomal recessive [RCV000380031]|not provided [RCV000523572] |
Chr2:11773639 [GRCh38]
Chr2:11913765 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.695C>T (p.Ser232Leu) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000383344]|not provided [RCV001859959] |
Chr2:11773718 [GRCh38]
Chr2:11913844 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.72C>T (p.Pro24=) |
single nucleotide variant |
LPIN1-related condition [RCV003957701]|Myoglobinuria, acute recurrent, autosomal recessive [RCV000363608]|not provided [RCV002057559] |
Chr2:11765613 [GRCh38]
Chr2:11905739 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.2393C>A (p.Ala798Asp) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000358200] |
Chr2:11815231 [GRCh38]
Chr2:11955357 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.305A>G (p.His102Arg) |
single nucleotide variant |
not provided [RCV001963798] |
Chr2:11771388 [GRCh38]
Chr2:11911514 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.597-4C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000323127]|not provided [RCV000949882] |
Chr2:11773616 [GRCh38]
Chr2:11913742 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1374A>C (p.Gly458=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000312249]|not provided [RCV001859960] |
Chr2:11784901 [GRCh38]
Chr2:11925027 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.119A>G (p.Asn40Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003168497]|Myoglobinuria, acute recurrent, autosomal recessive [RCV000315110]|not provided [RCV001859958] |
Chr2:11765660 [GRCh38]
Chr2:11905786 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*2052C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000342967] |
Chr2:11826843 [GRCh38]
Chr2:11966969 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000351789]|not provided [RCV000960465] |
Chr2:11782468 [GRCh38]
Chr2:11922594 [GRCh37]
Chr2:2p25.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001349206.2(LPIN1):c.429C>T (p.Ser143=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000353411]|not provided [RCV002057561] |
Chr2:11771512 [GRCh38]
Chr2:11911638 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1924G>A (p.Ala642Thr) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000354981]|not provided [RCV001859961] |
Chr2:11802944 [GRCh38]
Chr2:11943070 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1936C>T (p.Pro646Ser) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000267070]|not provided [RCV002058413]|not specified [RCV000246076] |
Chr2:11802956 [GRCh38]
Chr2:11943082 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.*2491G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000273474] |
Chr2:11827282 [GRCh38]
Chr2:11967408 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.*2029G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000283237] |
Chr2:11826820 [GRCh38]
Chr2:11966946 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1264+34G>C |
single nucleotide variant |
not specified [RCV000243849] |
Chr2:11782541 [GRCh38]
Chr2:11922667 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1553C>T (p.Ala518Val) |
single nucleotide variant |
not specified [RCV000249019] |
Chr2:11787077 [GRCh38]
Chr2:11927203 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1729A>G (p.Ile577Val) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135319]|not provided [RCV000950078]|not specified [RCV000249108] |
Chr2:11791929 [GRCh38]
Chr2:11932055 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.2358G>C (p.Gly786=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000324516]|not provided [RCV002058414]|not specified [RCV000241861] |
Chr2:11815196 [GRCh38]
Chr2:11955322 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.420C>T (p.Ile140=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000318540]|not provided [RCV000974708]|not specified [RCV000241969] |
Chr2:11771503 [GRCh38]
Chr2:11911629 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.1644-36C>T |
single nucleotide variant |
not provided [RCV001589290]|not specified [RCV000244333] |
Chr2:11788351 [GRCh38]
Chr2:11928477 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.657G>A (p.Leu219=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000283013]|not provided [RCV002058415]|not specified [RCV000251924] |
Chr2:11773680 [GRCh38]
Chr2:11913806 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.1806+41G>T |
single nucleotide variant |
not provided [RCV000843244]|not specified [RCV000254293] |
Chr2:11792047 [GRCh38]
Chr2:11932173 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.193-43G>T |
single nucleotide variant |
not provided [RCV001570799]|not specified [RCV000254385] |
Chr2:11767720 [GRCh38]
Chr2:11907846 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.2162+39T>C |
single nucleotide variant |
not provided [RCV001558006]|not specified [RCV000249683] |
Chr2:11804610 [GRCh38]
Chr2:11944736 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.1588G>A (p.Val530Met) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000355477]|not provided [RCV002058412]|not specified [RCV000252145] |
Chr2:11787112 [GRCh38]
Chr2:11927238 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.696G>C (p.Ser232=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130855]|not provided [RCV000954228]|not specified [RCV000242480] |
Chr2:11773719 [GRCh38]
Chr2:11913845 [GRCh37]
Chr2:2p25.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001349206.2(LPIN1):c.193-47C>T |
single nucleotide variant |
not provided [RCV000829604]|not specified [RCV000244954] |
Chr2:11767716 [GRCh38]
Chr2:11907842 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.*1570C>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000275323] |
Chr2:11826361 [GRCh38]
Chr2:11966487 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.2595G>A (p.Gln865=) |
single nucleotide variant |
LPIN1-related condition [RCV003891988]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002494773]|not provided [RCV000958557] |
Chr2:11820488 [GRCh38]
Chr2:11960614 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.958TCT[2] (p.Ser322del) |
microsatellite |
Acute Recurrent Myoglobinuria [RCV000343678]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002227111]|not provided [RCV000955905]|not specified [RCV000247627] |
Chr2:11782201..11782203 [GRCh38]
Chr2:11922327..11922329 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.289-35C>T |
single nucleotide variant |
not specified [RCV000250181] |
Chr2:11771337 [GRCh38]
Chr2:11911463 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.*1699G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000276368] |
Chr2:11826490 [GRCh38]
Chr2:11966616 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.*897C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000396979] |
Chr2:11825688 [GRCh38]
Chr2:11965814 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.*1263C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000396985] |
Chr2:11826054 [GRCh38]
Chr2:11966180 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1708G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000317471] |
Chr2:11826499 [GRCh38]
Chr2:11966625 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.3(LPIN1):c.-75T>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000302981] |
Chr2:11746606 [GRCh38]
Chr2:11886732 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1780A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000337106] |
Chr2:11826571 [GRCh38]
Chr2:11966697 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1082del |
deletion |
Acute Recurrent Myoglobinuria [RCV000304030] |
Chr2:11825873 [GRCh38]
Chr2:11965999 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.*624A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000405105] |
Chr2:11825415 [GRCh38]
Chr2:11965541 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.*326C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000384752] |
Chr2:11825117 [GRCh38]
Chr2:11965243 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.*1374G>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000306481] |
Chr2:11826165 [GRCh38]
Chr2:11966291 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.-11C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000306579] |
Chr2:11746670 [GRCh38]
Chr2:11886796 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*2086C>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000307932] |
Chr2:11826877 [GRCh38]
Chr2:11967003 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.*2213G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000344077] |
Chr2:11827004 [GRCh38]
Chr2:11967130 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1400T>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000363530] |
Chr2:11826191 [GRCh38]
Chr2:11966317 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.*2284A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000308661] |
Chr2:11827075 [GRCh38]
Chr2:11967201 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*538C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000388745] |
Chr2:11825329 [GRCh38]
Chr2:11965455 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*425G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000327091] |
Chr2:11825216 [GRCh38]
Chr2:11965342 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.*1671C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000389533] |
Chr2:11826462 [GRCh38]
Chr2:11966588 [GRCh37]
Chr2:2p25.1 |
benign|uncertain significance |
| NM_001349206.2(LPIN1):c.*2302G>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000368041] |
Chr2:11827093 [GRCh38]
Chr2:11967219 [GRCh37]
Chr2:2p25.1 |
benign|uncertain significance |
| NM_001349206.2(LPIN1):c.*623A>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000349116] |
Chr2:11825414 [GRCh38]
Chr2:11965540 [GRCh37]
Chr2:2p25.1 |
benign|uncertain significance |
| NM_001349206.2(LPIN1):c.*541C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000296800] |
Chr2:11825332 [GRCh38]
Chr2:11965458 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1656G>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000330376] |
Chr2:11826447 [GRCh38]
Chr2:11966573 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.*2274C>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000395179] |
Chr2:11827065 [GRCh38]
Chr2:11967191 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.*2082C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000395182] |
Chr2:11826873 [GRCh38]
Chr2:11966999 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.-26A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000395316] |
Chr2:11746655 [GRCh38]
Chr2:11886781 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*676C>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000281433] |
Chr2:11825467 [GRCh38]
Chr2:11965593 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1747del |
deletion |
Acute Recurrent Myoglobinuria [RCV000282235] |
Chr2:11826538 [GRCh38]
Chr2:11966664 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1357G>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000272408] |
Chr2:11826148 [GRCh38]
Chr2:11966274 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1363_1364dup (p.Asp455fs) |
microsatellite |
not provided [RCV000373103] |
Chr2:11784887..11784888 [GRCh38]
Chr2:11925013..11925014 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001349206.2(LPIN1):c.2237A>G (p.His746Arg) |
single nucleotide variant |
not provided [RCV000722960] |
Chr2:11805144 [GRCh38]
Chr2:11945270 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.722+4A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000291423] |
Chr2:11773749 [GRCh38]
Chr2:11913875 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1339ATT[1] |
microsatellite |
Acute Recurrent Myoglobinuria [RCV000302915] |
Chr2:11826130..11826132 [GRCh38]
Chr2:11966256..11966258 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*2597C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000314492] |
Chr2:11827388 [GRCh38]
Chr2:11967514 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.3(LPIN1):c.-69G>A |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000346136] |
Chr2:11746612 [GRCh38]
Chr2:11886738 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1343T>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000364564] |
Chr2:11826134 [GRCh38]
Chr2:11966260 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1790A>G (p.Asn597Ser) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000401385] |
Chr2:11791990 [GRCh38]
Chr2:11932116 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.124A>G (p.Asn42Asp) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000367401] |
Chr2:11765665 [GRCh38]
Chr2:11905791 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.688C>T (p.Pro230Ser) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000321734] |
Chr2:11773711 [GRCh38]
Chr2:11913837 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*816A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000338823] |
Chr2:11825607 [GRCh38]
Chr2:11965733 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1722del |
deletion |
Acute Recurrent Myoglobinuria [RCV000372003] |
Chr2:11826513 [GRCh38]
Chr2:11966639 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2680T>A (p.Ser894Thr) |
single nucleotide variant |
not provided [RCV000522852] |
Chr2:11824690 [GRCh38]
Chr2:11964816 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*404G>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000288492] |
Chr2:11825195 [GRCh38]
Chr2:11965321 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*99C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000327841] |
Chr2:11824890 [GRCh38]
Chr2:11965016 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*2005del |
deletion |
Acute Recurrent Myoglobinuria [RCV000377645] |
Chr2:11826793 [GRCh38]
Chr2:11966919 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1101C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000360981] |
Chr2:11825892 [GRCh38]
Chr2:11966018 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2162+5G>A |
single nucleotide variant |
LPIN1-related condition [RCV003970094]|not provided [RCV002523957]|not specified [RCV000413731] |
Chr2:11804576 [GRCh38]
Chr2:11944702 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2p25.1-24.3(chr2:11142721-12660466)x1 |
copy number loss |
See cases [RCV000454156] |
Chr2:11142721..12660466 [GRCh37]
Chr2:2p25.1-24.3 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2320C>T (p.His774Tyr) |
single nucleotide variant |
not provided [RCV000417929] |
Chr2:11815158 [GRCh38]
Chr2:11955284 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.842C>A (p.Ser281Tyr) |
single nucleotide variant |
not provided [RCV000444623] |
Chr2:11779530 [GRCh38]
Chr2:11919656 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.11:g.(?_11326144)_(16240708_?)del |
deletion |
Schizophrenia [RCV000416804] |
Chr2:11326144..16240708 [GRCh37]
Chr2:11243595..16158159 [NCBI36]
Chr2:2p25.1-24.3 |
likely pathogenic |
| NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln) |
single nucleotide variant |
Hyperchloremia [RCV002292443]|LPIN1-related condition [RCV003972717]|not provided [RCV000843237]|not specified [RCV000454503] |
Chr2:11713787 [GRCh38]
Chr2:11853913 [GRCh37]
Chr2:2p25.1 |
likely pathogenic|benign |
| NM_001349206.2(LPIN1):c.2163-1G>T |
single nucleotide variant |
not provided [RCV000484136] |
Chr2:11805069 [GRCh38]
Chr2:11945195 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 |
copy number gain |
See cases [RCV000510934] |
Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001349206.2(LPIN1):c.2434A>G (p.Lys812Glu) |
single nucleotide variant |
not provided [RCV000594469] |
Chr2:11819515 [GRCh38]
Chr2:11959641 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2455A>G (p.Ile819Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003249204] |
Chr2:11819536 [GRCh38]
Chr2:11959662 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1264+5C>T |
single nucleotide variant |
not specified [RCV000607359] |
Chr2:11782512 [GRCh38]
Chr2:11922638 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2163A>G (p.Arg721=) |
single nucleotide variant |
not provided [RCV002528797]|not specified [RCV000611604] |
Chr2:11805070 [GRCh38]
Chr2:11945196 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1044C>T (p.Ser348=) |
single nucleotide variant |
not provided [RCV000594448] |
Chr2:11782287 [GRCh38]
Chr2:11922413 [GRCh37]
Chr2:2p25.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001261428.3(LPIN1):c.81+198G>C |
single nucleotide variant |
not provided [RCV001565667] |
Chr2:11677926 [GRCh38]
Chr2:11818052 [GRCh37]
Chr2:2p25.1 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NC_000002.12:g.(?_11177745)_(16113827_?)del |
deletion |
Schizophrenia [RCV000754225] |
Chr2:11177745..16113827 [GRCh38]
Chr2:2p25.1-24.3 |
likely pathogenic |
| GRCh37/hg19 2p25.1(chr2:11182136-12146869)x3 |
copy number gain |
not provided [RCV000740326] |
Chr2:11182136..12146869 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.81+171T>C |
single nucleotide variant |
not provided [RCV001583201] |
Chr2:11677899 [GRCh38]
Chr2:11818025 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1807-212G>C |
single nucleotide variant |
not provided [RCV001648161] |
Chr2:11795196 [GRCh38]
Chr2:11935322 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.138+25C>T |
single nucleotide variant |
not provided [RCV001680343] |
Chr2:11713837 [GRCh38]
Chr2:11853963 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.192+171C>T |
single nucleotide variant |
not provided [RCV001648380] |
Chr2:11765904 [GRCh38]
Chr2:11906030 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.597-317G>C |
single nucleotide variant |
not provided [RCV001564143] |
Chr2:11773303 [GRCh38]
Chr2:11913429 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.723-171T>C |
single nucleotide variant |
not provided [RCV001679248] |
Chr2:11775915 [GRCh38]
Chr2:11916041 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1644-90C>T |
single nucleotide variant |
not provided [RCV001546964] |
Chr2:11788297 [GRCh38]
Chr2:11928423 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1807-258C>T |
single nucleotide variant |
not provided [RCV001566621] |
Chr2:11795150 [GRCh38]
Chr2:11935276 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2403-306C>T |
single nucleotide variant |
not provided [RCV001550677] |
Chr2:11819178 [GRCh38]
Chr2:11959304 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1549+296T>C |
single nucleotide variant |
not provided [RCV001577204] |
Chr2:11785372 [GRCh38]
Chr2:11925498 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1714-269TTG[4] |
microsatellite |
not provided [RCV001570388] |
Chr2:11791645..11791647 [GRCh38]
Chr2:11931771..11931773 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.957+130G>T |
single nucleotide variant |
not provided [RCV001552181] |
Chr2:11779775 [GRCh38]
Chr2:11919901 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.288+154T>C |
single nucleotide variant |
not provided [RCV001585343] |
Chr2:11768012 [GRCh38]
Chr2:11908138 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.957+250dup |
duplication |
not provided [RCV001574945] |
Chr2:11779881..11779882 [GRCh38]
Chr2:11920007..11920008 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.*1997C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135573] |
Chr2:11826788 [GRCh38]
Chr2:11966914 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.958-196A>G |
single nucleotide variant |
not provided [RCV001568462] |
Chr2:11782005 [GRCh38]
Chr2:11922131 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2403-346A>G |
single nucleotide variant |
not provided [RCV001679262] |
Chr2:11819138 [GRCh38]
Chr2:11959264 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1265-7G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001133827]|not provided [RCV002556867] |
Chr2:11783822 [GRCh38]
Chr2:11923948 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.2622-297G>C |
single nucleotide variant |
not provided [RCV001576232] |
Chr2:11824335 [GRCh38]
Chr2:11964461 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1922G>A (p.Arg641His) |
single nucleotide variant |
LPIN1-related condition [RCV003936051]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001135323]|not provided [RCV000967711] |
Chr2:11802942 [GRCh38]
Chr2:11943068 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.2067G>T (p.Thr689=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130282]|not provided [RCV000967712] |
Chr2:11804476 [GRCh38]
Chr2:11944602 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.564G>A (p.Ser188=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002479139]|not provided [RCV000973298] |
Chr2:11771647 [GRCh38]
Chr2:11911773 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.942del (p.Pro315fs) |
deletion |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000995801] |
Chr2:11779630 [GRCh38]
Chr2:11919756 [GRCh37]
Chr2:2p25.1 |
pathogenic|likely pathogenic |
| NM_001349206.2(LPIN1):c.1367del (p.Pro456fs) |
deletion |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000779277]|not provided [RCV001092530] |
Chr2:11784893 [GRCh38]
Chr2:11925019 [GRCh37]
Chr2:2p25.1 |
pathogenic|uncertain significance |
| NM_001349206.2(LPIN1):c.1629A>T (p.Val543=) |
single nucleotide variant |
not provided [RCV000978893] |
Chr2:11787153 [GRCh38]
Chr2:11927279 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2014-152G>A |
single nucleotide variant |
not provided [RCV000839348] |
Chr2:11804271 [GRCh38]
Chr2:11944397 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2057_2075dup (p.Gly693fs) |
duplication |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000824909] |
Chr2:11804463..11804464 [GRCh38]
Chr2:11944589..11944590 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_001261428.3(LPIN1):c.82-127G>A |
single nucleotide variant |
not provided [RCV000829839] |
Chr2:11713629 [GRCh38]
Chr2:11853755 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.192+197A>C |
single nucleotide variant |
not provided [RCV000843268] |
Chr2:11765930 [GRCh38]
Chr2:11906056 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.138+74G>A |
single nucleotide variant |
not provided [RCV000829856] |
Chr2:11713886 [GRCh38]
Chr2:11854012 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1549+133A>G |
single nucleotide variant |
not provided [RCV000843241] |
Chr2:11785209 [GRCh38]
Chr2:11925335 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.12:g.11792047G>T |
single nucleotide variant |
not provided [RCV000843244] |
Chr2:11932173 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1806+203T>C |
single nucleotide variant |
not provided [RCV000843245] |
Chr2:11792209 [GRCh38]
Chr2:11932335 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2402+237C>T |
single nucleotide variant |
not provided [RCV000843247] |
Chr2:11815477 [GRCh38]
Chr2:11955603 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.596+152G>T |
single nucleotide variant |
not provided [RCV000829605] |
Chr2:11771831 [GRCh38]
Chr2:11911957 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1886+5G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135322]|not provided [RCV002556884] |
Chr2:11795492 [GRCh38]
Chr2:11935618 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.12:g.11767716C>T |
single nucleotide variant |
not provided [RCV000829604] |
Chr2:11907842 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.596+176C>G |
single nucleotide variant |
not provided [RCV000829606] |
Chr2:11771855 [GRCh38]
Chr2:11911981 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.*2208T>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135575] |
Chr2:11826999 [GRCh38]
Chr2:11967125 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.2(LPIN1):c.-69443G>A |
single nucleotide variant |
not provided [RCV000830338] |
Chr2:11677238 [GRCh38]
Chr2:11817364 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.-26A>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001133684] |
Chr2:11746655 [GRCh38]
Chr2:11886781 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1264+273C>T |
single nucleotide variant |
not provided [RCV000828736] |
Chr2:11782780 [GRCh38]
Chr2:11922906 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2518G>C (p.Asp840His) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000824910] |
Chr2:11820411 [GRCh38]
Chr2:11960537 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*271G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001133947] |
Chr2:11825062 [GRCh38]
Chr2:11965188 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1744A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001134069] |
Chr2:11826535 [GRCh38]
Chr2:11966661 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1933G>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001134071] |
Chr2:11826724 [GRCh38]
Chr2:11966850 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.*2145A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135574] |
Chr2:11826936 [GRCh38]
Chr2:11967062 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.1(chr2:11410614-12054698)x3 |
copy number gain |
not provided [RCV000847527] |
Chr2:11410614..12054698 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.945G>T (p.Pro315=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002489444]|not provided [RCV000980773] |
Chr2:11779633 [GRCh38]
Chr2:11919759 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261428.3(LPIN1):c.82-108T>C |
single nucleotide variant |
not provided [RCV000843233] |
Chr2:11713648 [GRCh38]
Chr2:11853774 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.138+50A>T |
single nucleotide variant |
not provided [RCV000843234] |
Chr2:11713862 [GRCh38]
Chr2:11853988 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.138+161T>C |
single nucleotide variant |
not provided [RCV000843235] |
Chr2:11713973 [GRCh38]
Chr2:11854099 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.138+26G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001730737]|not provided [RCV000843238] |
Chr2:11713838 [GRCh38]
Chr2:11853964 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1359-62T>C |
single nucleotide variant |
not provided [RCV000843240] |
Chr2:11784824 [GRCh38]
Chr2:11924950 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.958-273A>G |
single nucleotide variant |
not provided [RCV000828735] |
Chr2:11781928 [GRCh38]
Chr2:11922054 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.2(LPIN1):c.-69445T>G |
single nucleotide variant |
not provided [RCV000844498] |
Chr2:11677236 [GRCh38]
Chr2:11817362 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261427.3(LPIN1):c.-71-277A>C |
single nucleotide variant |
not provided [RCV000844504] |
Chr2:11741072 [GRCh38]
Chr2:11881198 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261427.3(LPIN1):c.9+255T>G |
single nucleotide variant |
not provided [RCV000844509] |
Chr2:11741683 [GRCh38]
Chr2:11881809 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2249+251C>A |
single nucleotide variant |
not provided [RCV000844514] |
Chr2:11805407 [GRCh38]
Chr2:11945533 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.-69G>A |
single nucleotide variant |
not provided [RCV000826389] |
Chr2:11677579 [GRCh38]
Chr2:11817705 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.82-160T>C |
single nucleotide variant |
not provided [RCV000829840] |
Chr2:11713596 [GRCh38]
Chr2:11853722 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.-9-161C>T |
single nucleotide variant |
not provided [RCV000839339] |
Chr2:11765372 [GRCh38]
Chr2:11905498 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.24C>T (p.Ala8=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135184]|not provided [RCV003558700] |
Chr2:11765565 [GRCh38]
Chr2:11905691 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.42C>T (p.Thr14=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135185]|not provided [RCV002070578] |
Chr2:11765583 [GRCh38]
Chr2:11905709 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1852G>A (p.Gly618Arg) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135321]|not provided [RCV001732050] |
Chr2:11795453 [GRCh38]
Chr2:11935579 [GRCh37]
Chr2:2p25.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001349206.2(LPIN1):c.*682G>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135453] |
Chr2:11825473 [GRCh38]
Chr2:11965599 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.-35A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001133683] |
Chr2:11746646 [GRCh38]
Chr2:11886772 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1663G>A (p.Ala555Thr) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001133828]|not provided [RCV002556868] |
Chr2:11788406 [GRCh38]
Chr2:11928532 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.1-24.3(chr2:11698868-13261503)x3 |
copy number gain |
not provided [RCV001005231] |
Chr2:11698868..13261503 [GRCh37]
Chr2:2p25.1-24.3 |
uncertain significance |
| NM_001349206.2(LPIN1):c.438G>A (p.Pro146=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130148]|not provided [RCV002558272] |
Chr2:11771521 [GRCh38]
Chr2:11911647 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.2043C>T (p.Asn681=) |
single nucleotide variant |
LPIN1-related condition [RCV003963070]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130281]|not provided [RCV002070520] |
Chr2:11804452 [GRCh38]
Chr2:11944578 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.2168A>G (p.Asp723Gly) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130284] |
Chr2:11805075 [GRCh38]
Chr2:11945201 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2342C>T (p.Thr781Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002556832]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130285]|not provided [RCV001873523] |
Chr2:11815180 [GRCh38]
Chr2:11955306 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.1(chr2:11405245-12054698)x3 |
copy number gain |
not provided [RCV000847022] |
Chr2:11405245..12054698 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1604T>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001131118] |
Chr2:11826395 [GRCh38]
Chr2:11966521 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1242G>A (p.Thr414=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001133826]|not provided [RCV002558282] |
Chr2:11782485 [GRCh38]
Chr2:11922611 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.*1772G>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001134070] |
Chr2:11826563 [GRCh38]
Chr2:11966689 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.-9-192C>T |
single nucleotide variant |
not provided [RCV001549313] |
Chr2:11765341 [GRCh38]
Chr2:11905467 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.957+256_957+257del |
microsatellite |
not provided [RCV001695267] |
Chr2:11779899..11779900 [GRCh38]
Chr2:11920025..11920026 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1643+231del |
deletion |
not provided [RCV001647871] |
Chr2:11787398 [GRCh38]
Chr2:11927524 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2403-228C>T |
single nucleotide variant |
not provided [RCV001721834] |
Chr2:11819256 [GRCh38]
Chr2:11959382 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2517+181T>C |
single nucleotide variant |
not provided [RCV001721835] |
Chr2:11819779 [GRCh38]
Chr2:11959905 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.-9-21T>G |
single nucleotide variant |
not provided [RCV001713305] |
Chr2:11765512 [GRCh38]
Chr2:11905638 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2517+121C>G |
single nucleotide variant |
not provided [RCV001561232] |
Chr2:11819719 [GRCh38]
Chr2:11959845 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2403-300G>A |
single nucleotide variant |
not provided [RCV001591574] |
Chr2:11819184 [GRCh38]
Chr2:11959310 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2622-172C>T |
single nucleotide variant |
not provided [RCV001717353] |
Chr2:11824460 [GRCh38]
Chr2:11964586 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.830+65A>G |
single nucleotide variant |
not provided [RCV001561652] |
Chr2:11776258 [GRCh38]
Chr2:11916384 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261428.3(LPIN1):c.82-39C>T |
single nucleotide variant |
not provided [RCV001556566] |
Chr2:11713717 [GRCh38]
Chr2:11853843 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2518-304C>T |
single nucleotide variant |
not provided [RCV001569548] |
Chr2:11820107 [GRCh38]
Chr2:11960233 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1713+276G>C |
single nucleotide variant |
not provided [RCV001593786] |
Chr2:11788732 [GRCh38]
Chr2:11928858 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.192+190G>A |
single nucleotide variant |
not provided [RCV001714319] |
Chr2:11765923 [GRCh38]
Chr2:11906049 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2517+226A>G |
single nucleotide variant |
not provided [RCV001685686] |
Chr2:11819824 [GRCh38]
Chr2:11959950 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2517+305A>G |
single nucleotide variant |
not provided [RCV001544736] |
Chr2:11819903 [GRCh38]
Chr2:11960029 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2403-198T>C |
single nucleotide variant |
not provided [RCV001563324] |
Chr2:11819286 [GRCh38]
Chr2:11959412 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1714-267G>T |
single nucleotide variant |
not provided [RCV001548710] |
Chr2:11791647 [GRCh38]
Chr2:11931773 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2517+259A>G |
single nucleotide variant |
not provided [RCV001665775] |
Chr2:11819857 [GRCh38]
Chr2:11959983 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1643+231_1643+232del |
deletion |
not provided [RCV001616645] |
Chr2:11787397..11787398 [GRCh38]
Chr2:11927523..11927524 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.597-6C>T |
single nucleotide variant |
not provided [RCV000949881] |
Chr2:11773614 [GRCh38]
Chr2:11913740 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2163-10C>T |
single nucleotide variant |
LPIN1-related condition [RCV003936049]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002479126]|not provided [RCV000967677] |
Chr2:11805060 [GRCh38]
Chr2:11945186 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2621+9T>G |
single nucleotide variant |
not provided [RCV000909692] |
Chr2:11820523 [GRCh38]
Chr2:11960649 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2030A>T (p.Lys677Met) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130280] |
Chr2:11804439 [GRCh38]
Chr2:11944565 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2609C>G (p.Thr870Ser) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130994] |
Chr2:11820502 [GRCh38]
Chr2:11960628 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1487G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001131116] |
Chr2:11826278 [GRCh38]
Chr2:11966404 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1714C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001134067] |
Chr2:11826505 [GRCh38]
Chr2:11966631 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.152G>A (p.Arg51His) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135186] |
Chr2:11765693 [GRCh38]
Chr2:11905819 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1795A>G (p.Thr599Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003339514]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001135320] |
Chr2:11791995 [GRCh38]
Chr2:11932121 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2046C>T (p.Asp682=) |
single nucleotide variant |
not provided [RCV000911785] |
Chr2:11804455 [GRCh38]
Chr2:11944581 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1644-14T>C |
single nucleotide variant |
not provided [RCV002771033] |
Chr2:11788373 [GRCh38]
Chr2:11928499 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.181C>T (p.Arg61Ter) |
single nucleotide variant |
not provided [RCV001572147] |
Chr2:11765722 [GRCh38]
Chr2:11905848 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| GRCh37/hg19 2p25.1(chr2:11410615-12064438)x3 |
copy number gain |
not provided [RCV002472919] |
Chr2:11410615..12064438 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1714-126A>G |
single nucleotide variant |
LPIN1-related condition [RCV003933793]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002466783] |
Chr2:11791788 [GRCh38]
Chr2:11931914 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.2517+205G>A |
single nucleotide variant |
not provided [RCV001575710] |
Chr2:11819803 [GRCh38]
Chr2:11959929 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261428.3(LPIN1):c.81+129G>T |
single nucleotide variant |
not provided [RCV001558438] |
Chr2:11677857 [GRCh38]
Chr2:11817983 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NC_000002.12:g.11677348C>A |
single nucleotide variant |
not provided [RCV001570677] |
Chr2:11677348 [GRCh38]
Chr2:11817474 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1359-51C>G |
single nucleotide variant |
not provided [RCV001558276] |
Chr2:11784835 [GRCh38]
Chr2:11924961 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1714-100dup |
duplication |
not provided [RCV001721897] |
Chr2:11791805..11791806 [GRCh38]
Chr2:11931931..11931932 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1264+115A>C |
single nucleotide variant |
not provided [RCV001559382] |
Chr2:11782622 [GRCh38]
Chr2:11922748 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1358+245G>A |
single nucleotide variant |
not provided [RCV001609331] |
Chr2:11784167 [GRCh38]
Chr2:11924293 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.830+36A>G |
single nucleotide variant |
not provided [RCV001662960] |
Chr2:11776229 [GRCh38]
Chr2:11916355 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.824delinsAAA (p.Ser275Ter) |
indel |
See cases [RCV002252547] |
Chr2:11776187 [GRCh38]
Chr2:11916313 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_001349206.2(LPIN1):c.2162+54del |
deletion |
not provided [RCV001709834] |
Chr2:11804621 [GRCh38]
Chr2:11944747 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2458A>G (p.Lys820Glu) |
single nucleotide variant |
not provided [RCV003237039] |
Chr2:11819539 [GRCh38]
Chr2:11959665 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2162+211G>T |
single nucleotide variant |
not provided [RCV001556351] |
Chr2:11804782 [GRCh38]
Chr2:11944908 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2622-171A>G |
single nucleotide variant |
not provided [RCV001717347] |
Chr2:11824461 [GRCh38]
Chr2:11964587 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.723-156TA[2] |
microsatellite |
not provided [RCV001597426] |
Chr2:11775930..11775933 [GRCh38]
Chr2:11916056..11916059 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2163-72dup |
duplication |
not provided [RCV001575755] |
Chr2:11804982..11804983 [GRCh38]
Chr2:11945108..11945109 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.597-18T>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002495951]|not provided [RCV001589874] |
Chr2:11773602 [GRCh38]
Chr2:11913728 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.1886+59G>C |
single nucleotide variant |
not provided [RCV001594136] |
Chr2:11795546 [GRCh38]
Chr2:11935672 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261428.3(LPIN1):c.81+165G>A |
single nucleotide variant |
not provided [RCV001717411] |
Chr2:11677893 [GRCh38]
Chr2:11818019 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1359-194T>G |
single nucleotide variant |
not provided [RCV001721846] |
Chr2:11784692 [GRCh38]
Chr2:11924818 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2249+213A>C |
single nucleotide variant |
not provided [RCV001593638] |
Chr2:11805369 [GRCh38]
Chr2:11945495 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1265-280A>G |
single nucleotide variant |
not provided [RCV001715648] |
Chr2:11783549 [GRCh38]
Chr2:11923675 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2249+218C>T |
single nucleotide variant |
not provided [RCV001598556] |
Chr2:11805374 [GRCh38]
Chr2:11945500 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1972G>A (p.Val658Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003363117]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130279]|not provided [RCV001856691] |
Chr2:11802992 [GRCh38]
Chr2:11943118 [GRCh37]
Chr2:2p25.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001349206.2(LPIN1):c.*1066A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130395] |
Chr2:11825857 [GRCh38]
Chr2:11965983 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1100T>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130396] |
Chr2:11825891 [GRCh38]
Chr2:11966017 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2343G>A (p.Thr781=) |
single nucleotide variant |
LPIN1-related condition [RCV003918720]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130991]|not provided [RCV002070527] |
Chr2:11815181 [GRCh38]
Chr2:11955307 [GRCh37]
Chr2:2p25.1 |
benign|likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.879C>G (p.Val293=) |
single nucleotide variant |
LPIN1-related condition [RCV003906245]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130857]|not provided [RCV003565464] |
Chr2:11779567 [GRCh38]
Chr2:11919693 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.2674A>T (p.Ser892Cys) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130995] |
Chr2:11824684 [GRCh38]
Chr2:11964810 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1582T>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001131117] |
Chr2:11826373 [GRCh38]
Chr2:11966499 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1129C>T (p.Gln377Ter) |
single nucleotide variant |
not provided [RCV001092529] |
Chr2:11782372 [GRCh38]
Chr2:11922498 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001261428.3(LPIN1):c.82-154dup |
duplication |
not provided [RCV001567466] |
Chr2:11713593..11713594 [GRCh38]
Chr2:11853719..11853720 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1358+155G>C |
single nucleotide variant |
not provided [RCV001588789] |
Chr2:11784077 [GRCh38]
Chr2:11924203 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2014-330C>T |
single nucleotide variant |
not provided [RCV001589596] |
Chr2:11804093 [GRCh38]
Chr2:11944219 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261427.3(LPIN1):c.-71-55C>T |
single nucleotide variant |
not provided [RCV001533996] |
Chr2:11741294 [GRCh38]
Chr2:11881420 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261428.3(LPIN1):c.82-297C>G |
single nucleotide variant |
not provided [RCV001613869] |
Chr2:11713459 [GRCh38]
Chr2:11853585 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.596+141G>A |
single nucleotide variant |
not provided [RCV001680222] |
Chr2:11771820 [GRCh38]
Chr2:11911946 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.957+250del |
deletion |
not provided [RCV001649880] |
Chr2:11779882 [GRCh38]
Chr2:11920008 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.-9-14del |
deletion |
not provided [RCV001649236] |
Chr2:11765511 [GRCh38]
Chr2:11905637 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1644-264C>T |
single nucleotide variant |
not provided [RCV001584630] |
Chr2:11788123 [GRCh38]
Chr2:11928249 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261427.3(LPIN1):c.9+291G>A |
single nucleotide variant |
not provided [RCV001583460] |
Chr2:11741719 [GRCh38]
Chr2:11881845 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.831-147G>A |
single nucleotide variant |
not provided [RCV001611607] |
Chr2:11779372 [GRCh38]
Chr2:11919498 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.193-97C>G |
single nucleotide variant |
not provided [RCV001546282] |
Chr2:11767666 [GRCh38]
Chr2:11907792 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2250-74T>C |
single nucleotide variant |
not provided [RCV001565207] |
Chr2:11815014 [GRCh38]
Chr2:11955140 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.309G>T (p.Leu103=) |
single nucleotide variant |
LPIN1-related condition [RCV003938483]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001130147]|not provided [RCV002556829] |
Chr2:11771392 [GRCh38]
Chr2:11911518 [GRCh37]
Chr2:2p25.1 |
benign|likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1644-199T>C |
single nucleotide variant |
not provided [RCV001587019] |
Chr2:11788188 [GRCh38]
Chr2:11928314 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.957+222C>T |
single nucleotide variant |
not provided [RCV001586349] |
Chr2:11779867 [GRCh38]
Chr2:11919993 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2150G>T (p.Gly717Val) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130283] |
Chr2:11804559 [GRCh38]
Chr2:11944685 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*927A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130394] |
Chr2:11825718 [GRCh38]
Chr2:11965844 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.597-308C>T |
single nucleotide variant |
not provided [RCV001682414] |
Chr2:11773312 [GRCh38]
Chr2:11913438 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130856]|not provided [RCV001759892] |
Chr2:11779542 [GRCh38]
Chr2:11919668 [GRCh37]
Chr2:2p25.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001349206.2(LPIN1):c.*1430C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001131115] |
Chr2:11826221 [GRCh38]
Chr2:11966347 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2162+1del |
deletion |
not provided [RCV001215562] |
Chr2:11804571 [GRCh38]
Chr2:11944697 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.2219G>A (p.Gly740Asp) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001249734] |
Chr2:11805126 [GRCh38]
Chr2:11945252 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.524C>T (p.Thr175Ile) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130149] |
Chr2:11771607 [GRCh38]
Chr2:11911733 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2414A>G (p.Glu805Gly) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130993]|not provided [RCV003574837] |
Chr2:11819495 [GRCh38]
Chr2:11959621 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.-15C>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001133685] |
Chr2:11746666 [GRCh38]
Chr2:11886792 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2403-8T>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001130992] |
Chr2:11819476 [GRCh38]
Chr2:11959602 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*1723A>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001134068] |
Chr2:11826514 [GRCh38]
Chr2:11966640 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.12:g.(?_11819484)_(11819598_?)del |
deletion |
not provided [RCV001033245] |
Chr2:11959610..11959724 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.*704A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135454] |
Chr2:11825495 [GRCh38]
Chr2:11965621 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.*777G>A |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001135455] |
Chr2:11825568 [GRCh38]
Chr2:11965694 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1822C>T (p.Gln608Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001334585] |
Chr2:11795423 [GRCh38]
Chr2:11935549 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| GRCh37/hg19 2p25.1(chr2:11410614-12054698)x3 |
copy number gain |
not provided [RCV001259158] |
Chr2:11410614..12054698 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.1-24.3(chr2:11144226-12569011)x3 |
copy number gain |
not provided [RCV001259159] |
Chr2:11144226..12569011 [GRCh37]
Chr2:2p25.1-24.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001349206.2(LPIN1):c.1713+226G>A |
single nucleotide variant |
not provided [RCV001581334] |
Chr2:11788682 [GRCh38]
Chr2:11928808 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.434C>T (p.Thr145Met) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001328647]|not provided [RCV002546269] |
Chr2:11771517 [GRCh38]
Chr2:11911643 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.671C>G (p.Pro224Arg) |
single nucleotide variant |
not provided [RCV001907615] |
Chr2:11773694 [GRCh38]
Chr2:11913820 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001358672]|See cases [RCV002252674] |
Chr2:11783840 [GRCh38]
Chr2:11923966 [GRCh37]
Chr2:2p25.1 |
pathogenic|likely pathogenic |
| NM_001349206.2(LPIN1):c.1862C>T (p.Pro621Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002546268]|Myoglobinuria, acute recurrent, autosomal recessive [RCV001328646]|not provided [RCV001871795] |
Chr2:11795463 [GRCh38]
Chr2:11935589 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.957+249T>G |
single nucleotide variant |
not provided [RCV001539440] |
Chr2:11779894 [GRCh38]
Chr2:11920020 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.-9-269G>C |
single nucleotide variant |
not provided [RCV001581673] |
Chr2:11765264 [GRCh38]
Chr2:11905390 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1264+222A>G |
single nucleotide variant |
not provided [RCV001614728] |
Chr2:11782729 [GRCh38]
Chr2:11922855 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001261428.3(LPIN1):c.81+275G>A |
single nucleotide variant |
not provided [RCV001716675] |
Chr2:11678003 [GRCh38]
Chr2:11818129 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.192+147T>C |
single nucleotide variant |
not provided [RCV001584607] |
Chr2:11765880 [GRCh38]
Chr2:11906006 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261428.3(LPIN1):c.82-299G>T |
single nucleotide variant |
not provided [RCV001649401] |
Chr2:11713457 [GRCh38]
Chr2:11853583 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2250-272T>C |
single nucleotide variant |
not provided [RCV001612496] |
Chr2:11814816 [GRCh38]
Chr2:11954942 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2777C>T (p.Ala926Val) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002488313]|not provided [RCV001509131] |
Chr2:11824787 [GRCh38]
Chr2:11964913 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.944_953del (p.Pro315fs) |
deletion |
not provided [RCV001389793] |
Chr2:11779627..11779636 [GRCh38]
Chr2:11919753..11919762 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001261428.3(LPIN1):c.45G>A (p.Ser15=) |
single nucleotide variant |
LPIN1-related condition [RCV003921196]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002495865]|not provided [RCV001536772] |
Chr2:11677692 [GRCh38]
Chr2:11817818 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_001349206.2(LPIN1):c.1893G>T (p.Lys631Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002544033]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002506767]|not provided [RCV001763195] |
Chr2:11802913 [GRCh38]
Chr2:11943039 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1564C>T (p.Gln522Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001783610] |
Chr2:11787088 [GRCh38]
Chr2:11927214 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.1271G>A (p.Arg424Gln) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002503197]|not provided [RCV001754457] |
Chr2:11783835 [GRCh38]
Chr2:11923961 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.928C>T (p.Leu310=) |
single nucleotide variant |
not provided [RCV001752101] |
Chr2:11779616 [GRCh38]
Chr2:11919742 [GRCh37]
Chr2:2p25.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001349206.2(LPIN1):c.1292A>G (p.Asp431Gly) |
single nucleotide variant |
not provided [RCV001761124] |
Chr2:11783856 [GRCh38]
Chr2:11923982 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1149C>T (p.Asp383=) |
single nucleotide variant |
not provided [RCV001815876] |
Chr2:11782392 [GRCh38]
Chr2:11922518 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2163-72del |
deletion |
not provided [RCV001733305] |
Chr2:11804983 [GRCh38]
Chr2:11945109 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1582C>T (p.Gln528Ter) |
single nucleotide variant |
not provided [RCV001864643] |
Chr2:11787106 [GRCh38]
Chr2:11927232 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.1475A>G (p.Asp492Gly) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002492043]|not provided [RCV001950541] |
Chr2:11785002 [GRCh38]
Chr2:11925128 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.967C>G (p.Pro323Ala) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV003132579]|not provided [RCV001874483] |
Chr2:11782210 [GRCh38]
Chr2:11922336 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1110C>A (p.Asn370Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003167431]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002497814]|not provided [RCV001950329] |
Chr2:11782353 [GRCh38]
Chr2:11922479 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.1(chr2:11410614-12064438) |
copy number gain |
not specified [RCV002053067] |
Chr2:11410614..12064438 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1624G>A (p.Val542Met) |
single nucleotide variant |
not provided [RCV002004865] |
Chr2:11787148 [GRCh38]
Chr2:11927274 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1982A>G (p.Lys661Arg) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002478310]|not provided [RCV001911289] |
Chr2:11803002 [GRCh38]
Chr2:11943128 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.928C>G (p.Leu310Val) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002503609]|not provided [RCV001964545] |
Chr2:11779616 [GRCh38]
Chr2:11919742 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1 |
copy number loss |
not provided [RCV001836520] |
Chr2:8935077..15722794 [GRCh37]
Chr2:2p25.1-24.3 |
uncertain significance |
| GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1 |
copy number loss |
not provided [RCV001827895] |
Chr2:9717186..12013065 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1428G>C (p.Gln476His) |
single nucleotide variant |
not provided [RCV002039961] |
Chr2:11784955 [GRCh38]
Chr2:11925081 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2621C>T (p.Ser874Leu) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002482542]|not provided [RCV001947120] |
Chr2:11820514 [GRCh38]
Chr2:11960640 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2622-1G>T |
single nucleotide variant |
not provided [RCV001924476] |
Chr2:11824631 [GRCh38]
Chr2:11964757 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1121C>T (p.Thr374Ile) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002478379]|not provided [RCV001943230] |
Chr2:11782364 [GRCh38]
Chr2:11922490 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.245A>G (p.Asp82Gly) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002478141]|not provided [RCV001907140] |
Chr2:11767815 [GRCh38]
Chr2:11907941 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.541A>G (p.Met181Val) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002492157]|not provided [RCV001963412] |
Chr2:11771624 [GRCh38]
Chr2:11911750 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.704A>G (p.Glu235Gly) |
single nucleotide variant |
not provided [RCV001876635] |
Chr2:11773727 [GRCh38]
Chr2:11913853 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.11:g.(?_11959590)_(11960660_?)del |
deletion |
not provided [RCV002033255] |
Chr2:11959590..11960660 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.73G>A (p.Ala25Thr) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002489907]|not provided [RCV002037233] |
Chr2:11765614 [GRCh38]
Chr2:11905740 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.955A>C (p.Lys319Gln) |
single nucleotide variant |
not provided [RCV001935949] |
Chr2:11779643 [GRCh38]
Chr2:11919769 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.11:g.(?_11960517)_(11964917_?)del |
deletion |
not provided [RCV001981708] |
Chr2:11960517..11964917 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1390A>G (p.Ser464Gly) |
single nucleotide variant |
not provided [RCV002011338] |
Chr2:11784917 [GRCh38]
Chr2:11925043 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.548C>T (p.Pro183Leu) |
single nucleotide variant |
not provided [RCV001955414] |
Chr2:11771631 [GRCh38]
Chr2:11911757 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1208C>G (p.Pro403Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002573430]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002484889]|not provided [RCV001976423] |
Chr2:11782451 [GRCh38]
Chr2:11922577 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1542C>G (p.Ile514Met) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002492203]|not provided [RCV001977952] |
Chr2:11785069 [GRCh38]
Chr2:11925195 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1887-1G>C |
single nucleotide variant |
not provided [RCV002051077] |
Chr2:11802906 [GRCh38]
Chr2:11943032 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_001349206.2(LPIN1):c.1369T>G (p.Ser457Ala) |
single nucleotide variant |
not provided [RCV001902750] |
Chr2:11784896 [GRCh38]
Chr2:11925022 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1651A>T (p.Asn551Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002555667]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002490236]|not provided [RCV001915850] |
Chr2:11788394 [GRCh38]
Chr2:11928520 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.462G>C (p.Lys154Asn) |
single nucleotide variant |
not provided [RCV002046172] |
Chr2:11771545 [GRCh38]
Chr2:11911671 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1862C>A (p.Pro621Gln) |
single nucleotide variant |
not provided [RCV001865011] |
Chr2:11795463 [GRCh38]
Chr2:11935589 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2066C>T (p.Thr689Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002573545]|Myoglobinuria, acute recurrent, autosomal recessive [RCV002484922]|not provided [RCV001994188] |
Chr2:11804475 [GRCh38]
Chr2:11944601 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1979A>G (p.Tyr660Cys) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002490225]|not provided [RCV001903488] |
Chr2:11802999 [GRCh38]
Chr2:11943125 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.11:g.(?_11959590)_(11959744_?)del |
deletion |
not provided [RCV001959060] |
Chr2:11959590..11959744 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.110G>C (p.Arg37Pro) |
single nucleotide variant |
not provided [RCV001916890] |
Chr2:11765651 [GRCh38]
Chr2:11905777 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1945G>A (p.Ala649Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002560696]|not provided [RCV001931593] |
Chr2:11802965 [GRCh38]
Chr2:11943091 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1478G>A (p.Gly493Glu) |
single nucleotide variant |
not provided [RCV001898624] |
Chr2:11785005 [GRCh38]
Chr2:11925131 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2401_2402+22del |
deletion |
not provided [RCV002031515] |
Chr2:11815231..11815254 [GRCh38]
Chr2:11955357..11955380 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_001349206.2(LPIN1):c.1550-7G>A |
single nucleotide variant |
not provided [RCV001867753] |
Chr2:11787067 [GRCh38]
Chr2:11927193 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.2601T>A (p.His867Gln) |
single nucleotide variant |
not provided [RCV001975437] |
Chr2:11820494 [GRCh38]
Chr2:11960620 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1040A>G (p.His347Arg) |
single nucleotide variant |
not provided [RCV002048587] |
Chr2:11782283 [GRCh38]
Chr2:11922409 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2187G>T (p.Leu729Phe) |
single nucleotide variant |
not provided [RCV001884993] |
Chr2:11805094 [GRCh38]
Chr2:11945220 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.11:g.(?_11905668)_(11955386_?)del |
deletion |
not provided [RCV001951028] |
Chr2:11905668..11955386 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.2380del (p.Ser794fs) |
deletion |
not provided [RCV001878230] |
Chr2:11815218 [GRCh38]
Chr2:11955344 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.696G>A (p.Ser232=) |
single nucleotide variant |
not provided [RCV002029914] |
Chr2:11773719 [GRCh38]
Chr2:11913845 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NC_000002.11:g.(?_11919625)_(11945302_?)del |
deletion |
not provided [RCV002050750] |
Chr2:11919625..11945302 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
not provided [RCV001937677] |
Chr2:11782225 [GRCh38]
Chr2:11922351 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1807-2A>G |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002497902]|not provided [RCV001990266] |
Chr2:11795406 [GRCh38]
Chr2:11935532 [GRCh37]
Chr2:2p25.1 |
pathogenic|likely pathogenic |
| NM_001349206.2(LPIN1):c.1358+12G>A |
single nucleotide variant |
not provided [RCV002125761] |
Chr2:11783934 [GRCh38]
Chr2:11924060 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2229G>A (p.Lys743=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002494088]|not provided [RCV002185369] |
Chr2:11805136 [GRCh38]
Chr2:11945262 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1866G>A (p.Pro622=) |
single nucleotide variant |
not provided [RCV002088544] |
Chr2:11795467 [GRCh38]
Chr2:11935593 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.597-8del |
deletion |
not provided [RCV002129816] |
Chr2:11773602 [GRCh38]
Chr2:11913728 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1644-17T>G |
single nucleotide variant |
not provided [RCV002191827] |
Chr2:11788370 [GRCh38]
Chr2:11928496 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1923C>T (p.Arg641=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002507946]|not provided [RCV002088351] |
Chr2:11802943 [GRCh38]
Chr2:11943069 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.722+19C>G |
single nucleotide variant |
not provided [RCV002209421] |
Chr2:11773764 [GRCh38]
Chr2:11913890 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1807-18del |
deletion |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002500370]|not provided [RCV002174155] |
Chr2:11795388 [GRCh38]
Chr2:11935514 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2364G>T (p.Leu788=) |
single nucleotide variant |
not provided [RCV002197430] |
Chr2:11815202 [GRCh38]
Chr2:11955328 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2331C>T (p.Asn777=) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002500317]|not provided [RCV002151415] |
Chr2:11815169 [GRCh38]
Chr2:11955295 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.597-15T>C |
single nucleotide variant |
not provided [RCV002113481] |
Chr2:11773605 [GRCh38]
Chr2:11913731 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1314C>T (p.Leu438=) |
single nucleotide variant |
not provided [RCV002115217] |
Chr2:11783878 [GRCh38]
Chr2:11924004 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.570G>A (p.Glu190=) |
single nucleotide variant |
not provided [RCV002134194] |
Chr2:11771653 [GRCh38]
Chr2:11911779 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1821G>A (p.Glu607=) |
single nucleotide variant |
not provided [RCV002088938] |
Chr2:11795422 [GRCh38]
Chr2:11935548 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.564G>C (p.Ser188=) |
single nucleotide variant |
not provided [RCV002214136] |
Chr2:11771647 [GRCh38]
Chr2:11911773 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1670C>A (p.Pro557His) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV003333205]|not provided [RCV002112791] |
Chr2:11788413 [GRCh38]
Chr2:11928539 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1776A>C (p.Ser592=) |
single nucleotide variant |
not provided [RCV002171778] |
Chr2:11791976 [GRCh38]
Chr2:11932102 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1265-8C>T |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV002498165]|not provided [RCV002175424] |
Chr2:11783821 [GRCh38]
Chr2:11923947 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.342G>A (p.Ser114=) |
single nucleotide variant |
not provided [RCV002198978] |
Chr2:11771425 [GRCh38]
Chr2:11911551 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.597-8dup |
duplication |
not provided [RCV002122971] |
Chr2:11773601..11773602 [GRCh38]
Chr2:11913727..11913728 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1545G>T (p.Thr515=) |
single nucleotide variant |
not provided [RCV002143110] |
Chr2:11785072 [GRCh38]
Chr2:11925198 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2766T>C (p.His922=) |
single nucleotide variant |
not provided [RCV002141592] |
Chr2:11824776 [GRCh38]
Chr2:11964902 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.597-19_597-18insA |
insertion |
not provided [RCV002138074] |
Chr2:11773601..11773602 [GRCh38]
Chr2:11913727..11913728 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.990C>T (p.Ser330=) |
single nucleotide variant |
LPIN1-related condition [RCV003923798]|not provided [RCV002154317] |
Chr2:11782233 [GRCh38]
Chr2:11922359 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.453A>G (p.Val151=) |
single nucleotide variant |
not provided [RCV003115193] |
Chr2:11771536 [GRCh38]
Chr2:11911662 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NC_000002.11:g.(?_11905668)_(11964917_?)del |
deletion |
not provided [RCV003113666] |
Chr2:11905668..11964917 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NC_000002.11:g.(?_11923935)_(11925222_?)del |
deletion |
not provided [RCV003113667] |
Chr2:11923935..11925222 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.11:g.(?_11905668)_(11964917_?)dup |
duplication |
not provided [RCV003113668] |
Chr2:11905668..11964917 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2067G>A (p.Thr689=) |
single nucleotide variant |
not provided [RCV003115329] |
Chr2:11804476 [GRCh38]
Chr2:11944602 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.315C>T (p.Thr105=) |
single nucleotide variant |
not provided [RCV003116492] |
Chr2:11771398 [GRCh38]
Chr2:11911524 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.837C>T (p.Ser279=) |
single nucleotide variant |
not provided [RCV003114916] |
Chr2:11779525 [GRCh38]
Chr2:11919651 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1157C>T (p.Thr386Ile) |
single nucleotide variant |
not provided [RCV003121035] |
Chr2:11782400 [GRCh38]
Chr2:11922526 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1600G>T (p.Ala534Ser) |
single nucleotide variant |
not provided [RCV002269673] |
Chr2:11787124 [GRCh38]
Chr2:11927250 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1714-1G>T |
single nucleotide variant |
not provided [RCV002266557] |
Chr2:11791913 [GRCh38]
Chr2:11932039 [GRCh37]
Chr2:2p25.1 |
not provided |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 |
copy number gain |
not provided [RCV002473946] |
Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_001349206.2(LPIN1):c.957+6_957+7del |
microsatellite |
not provided [RCV002308831] |
Chr2:11779648..11779649 [GRCh38]
Chr2:11919774..11919775 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.367G>A (p.Gly123Ser) |
single nucleotide variant |
not provided [RCV002903330] |
Chr2:11771450 [GRCh38]
Chr2:11911576 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.321C>A (p.Pro107=) |
single nucleotide variant |
not provided [RCV003074594] |
Chr2:11771404 [GRCh38]
Chr2:11911530 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1237_1238del (p.Lys413fs) |
deletion |
not provided [RCV002726976] |
Chr2:11782480..11782481 [GRCh38]
Chr2:11922606..11922607 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.1398C>T (p.Asn466=) |
single nucleotide variant |
not provided [RCV002750708] |
Chr2:11784925 [GRCh38]
Chr2:11925051 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.265G>C (p.Val89Leu) |
single nucleotide variant |
not provided [RCV002685702] |
Chr2:11767835 [GRCh38]
Chr2:11907961 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2217G>A (p.Gln739=) |
single nucleotide variant |
not provided [RCV002993904] |
Chr2:11805124 [GRCh38]
Chr2:11945250 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.635T>C (p.Ile212Thr) |
single nucleotide variant |
not provided [RCV002972356] |
Chr2:11773658 [GRCh38]
Chr2:11913784 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1784del (p.Gly595fs) |
deletion |
not provided [RCV002686187] |
Chr2:11791981 [GRCh38]
Chr2:11932107 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.707_709dup (p.Trp236_Ser237insTrp) |
duplication |
not provided [RCV002842218] |
Chr2:11773727..11773728 [GRCh38]
Chr2:11913853..11913854 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.199A>G (p.Ile67Val) |
single nucleotide variant |
not provided [RCV002681338] |
Chr2:11767769 [GRCh38]
Chr2:11907895 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.495C>T (p.Asp165=) |
single nucleotide variant |
not provided [RCV002730505] |
Chr2:11771578 [GRCh38]
Chr2:11911704 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2731G>A (p.Glu911Lys) |
single nucleotide variant |
not provided [RCV002771130] |
Chr2:11824741 [GRCh38]
Chr2:11964867 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1527C>T (p.Ser509=) |
single nucleotide variant |
not provided [RCV002690150] |
Chr2:11785054 [GRCh38]
Chr2:11925180 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.597-12T>G |
single nucleotide variant |
not provided [RCV002858233] |
Chr2:11773608 [GRCh38]
Chr2:11913734 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2317C>T (p.Leu773=) |
single nucleotide variant |
not provided [RCV002617755] |
Chr2:11815155 [GRCh38]
Chr2:11955281 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2227A>G (p.Lys743Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002945217] |
Chr2:11805134 [GRCh38]
Chr2:11945260 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.437C>T (p.Pro146Leu) |
single nucleotide variant |
not provided [RCV003076636] |
Chr2:11771520 [GRCh38]
Chr2:11911646 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1241C>T (p.Thr414Met) |
single nucleotide variant |
not provided [RCV002994239] |
Chr2:11782484 [GRCh38]
Chr2:11922610 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1643+9C>T |
single nucleotide variant |
not provided [RCV002775684] |
Chr2:11787176 [GRCh38]
Chr2:11927302 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1806+19G>C |
single nucleotide variant |
not provided [RCV002780102] |
Chr2:11792025 [GRCh38]
Chr2:11932151 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.566A>G (p.Asp189Gly) |
single nucleotide variant |
not provided [RCV002613687] |
Chr2:11771649 [GRCh38]
Chr2:11911775 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1371C>T (p.Ser457=) |
single nucleotide variant |
not provided [RCV002730622] |
Chr2:11784898 [GRCh38]
Chr2:11925024 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2151del (p.Thr718fs) |
deletion |
not provided [RCV002730569] |
Chr2:11804558 [GRCh38]
Chr2:11944684 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.423T>A (p.Ala141=) |
single nucleotide variant |
not provided [RCV002816402] |
Chr2:11771506 [GRCh38]
Chr2:11911632 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1638G>A (p.Gly546=) |
single nucleotide variant |
not provided [RCV002857849] |
Chr2:11787162 [GRCh38]
Chr2:11927288 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2250-16G>C |
single nucleotide variant |
not provided [RCV002881196] |
Chr2:11815072 [GRCh38]
Chr2:11955198 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2205T>C (p.Asp735=) |
single nucleotide variant |
not provided [RCV002613418] |
Chr2:11805112 [GRCh38]
Chr2:11945238 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.957+15A>T |
single nucleotide variant |
not provided [RCV002685665] |
Chr2:11779660 [GRCh38]
Chr2:11919786 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.341C>T (p.Ser114Leu) |
single nucleotide variant |
not provided [RCV002947715] |
Chr2:11771424 [GRCh38]
Chr2:11911550 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2224G>A (p.Ala742Thr) |
single nucleotide variant |
not provided [RCV002947397] |
Chr2:11805131 [GRCh38]
Chr2:11945257 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.618T>A (p.Pro206=) |
single nucleotide variant |
not provided [RCV002908066] |
Chr2:11773641 [GRCh38]
Chr2:11913767 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2055_2056del (p.Phe685fs) |
deletion |
not provided [RCV003034446] |
Chr2:11804464..11804465 [GRCh38]
Chr2:11944590..11944591 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.561C>T (p.Ser187=) |
single nucleotide variant |
not provided [RCV003017113] |
Chr2:11771644 [GRCh38]
Chr2:11911770 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1358+20C>T |
single nucleotide variant |
not provided [RCV003076828] |
Chr2:11783942 [GRCh38]
Chr2:11924068 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1600G>A (p.Ala534Thr) |
single nucleotide variant |
not provided [RCV002815413] |
Chr2:11787124 [GRCh38]
Chr2:11927250 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.606T>C (p.Pro202=) |
single nucleotide variant |
not provided [RCV002842394] |
Chr2:11773629 [GRCh38]
Chr2:11913755 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2031G>C (p.Lys677Asn) |
single nucleotide variant |
not provided [RCV002866413] |
Chr2:11804440 [GRCh38]
Chr2:11944566 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1863G>A (p.Pro621=) |
single nucleotide variant |
not provided [RCV002913634] |
Chr2:11795464 [GRCh38]
Chr2:11935590 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.264dup (p.Val89fs) |
duplication |
not provided [RCV003003281] |
Chr2:11767828..11767829 [GRCh38]
Chr2:11907954..11907955 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.2718C>T (p.Phe906=) |
single nucleotide variant |
not provided [RCV002593243] |
Chr2:11824728 [GRCh38]
Chr2:11964854 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1568C>A (p.Ala523Asp) |
single nucleotide variant |
not provided [RCV003081564] |
Chr2:11787092 [GRCh38]
Chr2:11927218 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1763G>A (p.Arg588Lys) |
single nucleotide variant |
not provided [RCV002619509] |
Chr2:11791963 [GRCh38]
Chr2:11932089 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1044C>A (p.Ser348Arg) |
single nucleotide variant |
not provided [RCV002735555] |
Chr2:11782287 [GRCh38]
Chr2:11922413 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.192+19G>C |
single nucleotide variant |
not provided [RCV002640606] |
Chr2:11765752 [GRCh38]
Chr2:11905878 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.1807-10T>C |
single nucleotide variant |
not provided [RCV003081789] |
Chr2:11795398 [GRCh38]
Chr2:11935524 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.899C>G (p.Thr300Arg) |
single nucleotide variant |
not provided [RCV002740210] |
Chr2:11779587 [GRCh38]
Chr2:11919713 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1379C>T (p.Ala460Val) |
single nucleotide variant |
not provided [RCV002913023] |
Chr2:11784906 [GRCh38]
Chr2:11925032 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.930G>A (p.Leu310=) |
single nucleotide variant |
not provided [RCV003078563] |
Chr2:11779618 [GRCh38]
Chr2:11919744 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.404C>T (p.Thr135Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003250784]|not provided [RCV002619109] |
Chr2:11771487 [GRCh38]
Chr2:11911613 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1643+10T>C |
single nucleotide variant |
not provided [RCV002619327] |
Chr2:11787177 [GRCh38]
Chr2:11927303 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.288+9G>T |
single nucleotide variant |
not provided [RCV002619502] |
Chr2:11767867 [GRCh38]
Chr2:11907993 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.436C>T (p.Pro146Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002887753] |
Chr2:11771519 [GRCh38]
Chr2:11911645 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.933G>A (p.Trp311Ter) |
single nucleotide variant |
not provided [RCV003080060] |
Chr2:11779621 [GRCh38]
Chr2:11919747 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.405G>A (p.Thr135=) |
single nucleotide variant |
not provided [RCV002998785] |
Chr2:11771488 [GRCh38]
Chr2:11911614 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2733G>A (p.Glu911=) |
single nucleotide variant |
not provided [RCV002885068] |
Chr2:11824743 [GRCh38]
Chr2:11964869 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2155A>C (p.Ile719Leu) |
single nucleotide variant |
not provided [RCV002795706] |
Chr2:11804564 [GRCh38]
Chr2:11944690 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.302T>G (p.Met101Arg) |
single nucleotide variant |
not provided [RCV002636847] |
Chr2:11771385 [GRCh38]
Chr2:11911511 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1406G>C (p.Arg469Pro) |
single nucleotide variant |
not provided [RCV002705636] |
Chr2:11784933 [GRCh38]
Chr2:11925059 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1277G>A (p.Arg426Gln) |
single nucleotide variant |
not provided [RCV002620267] |
Chr2:11783841 [GRCh38]
Chr2:11923967 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2599C>T (p.His867Tyr) |
single nucleotide variant |
not provided [RCV002621062] |
Chr2:11820492 [GRCh38]
Chr2:11960618 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1806+15C>G |
single nucleotide variant |
not provided [RCV002847531] |
Chr2:11792021 [GRCh38]
Chr2:11932147 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1203A>C (p.Lys401Asn) |
single nucleotide variant |
not provided [RCV002636669] |
Chr2:11782446 [GRCh38]
Chr2:11922572 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2242G>T (p.Val748Leu) |
single nucleotide variant |
not provided [RCV002637551] |
Chr2:11805149 [GRCh38]
Chr2:11945275 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1822C>G (p.Gln608Glu) |
single nucleotide variant |
not provided [RCV002569615] |
Chr2:11795423 [GRCh38]
Chr2:11935549 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.722+20C>T |
single nucleotide variant |
not provided [RCV002619771] |
Chr2:11773765 [GRCh38]
Chr2:11913891 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1816C>G (p.Pro606Ala) |
single nucleotide variant |
not provided [RCV002952664] |
Chr2:11795417 [GRCh38]
Chr2:11935543 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1358+19C>G |
single nucleotide variant |
not provided [RCV002999927] |
Chr2:11783941 [GRCh38]
Chr2:11924067 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1037T>G (p.Ile346Ser) |
single nucleotide variant |
not provided [RCV003053613] |
Chr2:11782280 [GRCh38]
Chr2:11922406 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1088G>A (p.Gly363Asp) |
single nucleotide variant |
not provided [RCV003080550] |
Chr2:11782331 [GRCh38]
Chr2:11922457 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2307G>A (p.Thr769=) |
single nucleotide variant |
not provided [RCV002620690] |
Chr2:11815145 [GRCh38]
Chr2:11955271 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2192C>A (p.Thr731Asn) |
single nucleotide variant |
not provided [RCV002695263] |
Chr2:11805099 [GRCh38]
Chr2:11945225 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.192+18G>A |
single nucleotide variant |
not provided [RCV002706633] |
Chr2:11765751 [GRCh38]
Chr2:11905877 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1402G>C (p.Ala468Pro) |
single nucleotide variant |
not provided [RCV002781128] |
Chr2:11784929 [GRCh38]
Chr2:11925055 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1150C>T (p.Leu384=) |
single nucleotide variant |
not provided [RCV002621184] |
Chr2:11782393 [GRCh38]
Chr2:11922519 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2292G>A (p.Gly764=) |
single nucleotide variant |
not provided [RCV002953122] |
Chr2:11815130 [GRCh38]
Chr2:11955256 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2660C>T (p.Pro887Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002870161]|not provided [RCV003777898] |
Chr2:11824670 [GRCh38]
Chr2:11964796 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2573A>G (p.Asn858Ser) |
single nucleotide variant |
not provided [RCV002796953] |
Chr2:11820466 [GRCh38]
Chr2:11960592 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.844C>T (p.Arg282Ter) |
single nucleotide variant |
not provided [RCV002949085] |
Chr2:11779532 [GRCh38]
Chr2:11919658 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.1807-17_1807-14del |
microsatellite |
not provided [RCV002636316] |
Chr2:11795386..11795389 [GRCh38]
Chr2:11935512..11935515 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.831-19_831-18delinsTA |
indel |
not provided [RCV002952657] |
Chr2:11779500..11779501 [GRCh38]
Chr2:11919626..11919627 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2087G>A (p.Arg696His) |
single nucleotide variant |
not provided [RCV003077424] |
Chr2:11804496 [GRCh38]
Chr2:11944622 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2510G>A (p.Arg837Gln) |
single nucleotide variant |
not provided [RCV002976048] |
Chr2:11819591 [GRCh38]
Chr2:11959717 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2699C>T (p.Ser900Leu) |
single nucleotide variant |
not provided [RCV002659646] |
Chr2:11824709 [GRCh38]
Chr2:11964835 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2131A>G (p.Ile711Val) |
single nucleotide variant |
not provided [RCV002761678] |
Chr2:11804540 [GRCh38]
Chr2:11944666 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1838A>T (p.Lys613Met) |
single nucleotide variant |
not provided [RCV002705454] |
Chr2:11795439 [GRCh38]
Chr2:11935565 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2189C>T (p.Pro730Leu) |
single nucleotide variant |
not provided [RCV002780180] |
Chr2:11805096 [GRCh38]
Chr2:11945222 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.91A>T (p.Ile31Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002889050] |
Chr2:11765632 [GRCh38]
Chr2:11905758 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.838G>A (p.Gly280Ser) |
single nucleotide variant |
not provided [RCV002958909] |
Chr2:11779526 [GRCh38]
Chr2:11919652 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1359-19C>A |
single nucleotide variant |
not provided [RCV002710333] |
Chr2:11784867 [GRCh38]
Chr2:11924993 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2044G>A (p.Asp682Asn) |
single nucleotide variant |
not provided [RCV002596203] |
Chr2:11804453 [GRCh38]
Chr2:11944579 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.604C>T (p.Pro202Ser) |
single nucleotide variant |
not provided [RCV002745402] |
Chr2:11773627 [GRCh38]
Chr2:11913753 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1520G>A (p.Gly507Asp) |
single nucleotide variant |
not provided [RCV003083768] |
Chr2:11785047 [GRCh38]
Chr2:11925173 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.722+12C>G |
single nucleotide variant |
not provided [RCV002875768] |
Chr2:11773757 [GRCh38]
Chr2:11913883 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2133C>A (p.Ile711=) |
single nucleotide variant |
not provided [RCV002741477] |
Chr2:11804542 [GRCh38]
Chr2:11944668 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1852G>C (p.Gly618Arg) |
single nucleotide variant |
not provided [RCV002645600] |
Chr2:11795453 [GRCh38]
Chr2:11935579 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2517+13T>C |
single nucleotide variant |
not provided [RCV002982531] |
Chr2:11819611 [GRCh38]
Chr2:11959737 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2279C>T (p.Ala760Val) |
single nucleotide variant |
not provided [RCV002766437] |
Chr2:11815117 [GRCh38]
Chr2:11955243 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.877G>T (p.Val293Phe) |
single nucleotide variant |
not provided [RCV002663807] |
Chr2:11779565 [GRCh38]
Chr2:11919691 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.831-6C>T |
single nucleotide variant |
not provided [RCV002710666] |
Chr2:11779513 [GRCh38]
Chr2:11919639 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2501T>C (p.Phe834Ser) |
single nucleotide variant |
not provided [RCV002957460] |
Chr2:11819582 [GRCh38]
Chr2:11959708 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1086C>T (p.Val362=) |
single nucleotide variant |
not provided [RCV003056840] |
Chr2:11782329 [GRCh38]
Chr2:11922455 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.10G>A (p.Val4Met) |
single nucleotide variant |
not provided [RCV002624673] |
Chr2:11765551 [GRCh38]
Chr2:11905677 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1960C>T (p.Leu654Phe) |
single nucleotide variant |
not provided [RCV002891167] |
Chr2:11802980 [GRCh38]
Chr2:11943106 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2681C>T (p.Ser894Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002850693] |
Chr2:11824691 [GRCh38]
Chr2:11964817 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2774C>T (p.Ser925Leu) |
single nucleotide variant |
not provided [RCV002625184] |
Chr2:11824784 [GRCh38]
Chr2:11964910 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2628G>A (p.Val876=) |
single nucleotide variant |
not provided [RCV002627012] |
Chr2:11824638 [GRCh38]
Chr2:11964764 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.289-13_289-11dup |
duplication |
not provided [RCV002595252] |
Chr2:11771357..11771358 [GRCh38]
Chr2:11911483..11911484 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1228A>G (p.Thr410Ala) |
single nucleotide variant |
not provided [RCV003083817] |
Chr2:11782471 [GRCh38]
Chr2:11922597 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1577A>G (p.Tyr526Cys) |
single nucleotide variant |
not provided [RCV002786415] |
Chr2:11787101 [GRCh38]
Chr2:11927227 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2250-7C>T |
single nucleotide variant |
not provided [RCV003082855] |
Chr2:11815081 [GRCh38]
Chr2:11955207 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2428A>G (p.Lys810Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002742182] |
Chr2:11819509 [GRCh38]
Chr2:11959635 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2533A>G (p.Lys845Glu) |
single nucleotide variant |
not provided [RCV003083509] |
Chr2:11820426 [GRCh38]
Chr2:11960552 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2669A>G (p.Lys890Arg) |
single nucleotide variant |
not provided [RCV002624598] |
Chr2:11824679 [GRCh38]
Chr2:11964805 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2650del (p.His884fs) |
deletion |
not provided [RCV003024267] |
Chr2:11824659 [GRCh38]
Chr2:11964785 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1255A>G (p.Arg419Gly) |
single nucleotide variant |
not provided [RCV002625180] |
Chr2:11782498 [GRCh38]
Chr2:11922624 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1608C>T (p.Ile536=) |
single nucleotide variant |
not provided [RCV002624083] |
Chr2:11787132 [GRCh38]
Chr2:11927258 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1385A>C (p.His462Pro) |
single nucleotide variant |
not provided [RCV002957699] |
Chr2:11784912 [GRCh38]
Chr2:11925038 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1892A>G (p.Lys631Arg) |
single nucleotide variant |
not provided [RCV002958251] |
Chr2:11802912 [GRCh38]
Chr2:11943038 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1881C>G (p.Ala627=) |
single nucleotide variant |
not provided [RCV002596754] |
Chr2:11795482 [GRCh38]
Chr2:11935608 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.43G>A (p.Val15Met) |
single nucleotide variant |
not provided [RCV003005437] |
Chr2:11765584 [GRCh38]
Chr2:11905710 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.896G>T (p.Arg299Met) |
single nucleotide variant |
not provided [RCV002575682] |
Chr2:11779584 [GRCh38]
Chr2:11919710 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2349G>C (p.Leu783=) |
single nucleotide variant |
not provided [RCV002922472] |
Chr2:11815187 [GRCh38]
Chr2:11955313 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1075C>A (p.Pro359Thr) |
single nucleotide variant |
not provided [RCV002812144] |
Chr2:11782318 [GRCh38]
Chr2:11922444 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1218T>C (p.Ser406=) |
single nucleotide variant |
not provided [RCV002967208] |
Chr2:11782461 [GRCh38]
Chr2:11922587 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1921C>T (p.Arg641Cys) |
single nucleotide variant |
not provided [RCV002602899] |
Chr2:11802941 [GRCh38]
Chr2:11943067 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.878T>G (p.Val293Gly) |
single nucleotide variant |
not provided [RCV002967290] |
Chr2:11779566 [GRCh38]
Chr2:11919692 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1265-19G>A |
single nucleotide variant |
not provided [RCV002856209] |
Chr2:11783810 [GRCh38]
Chr2:11923936 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2402+3A>G |
single nucleotide variant |
not provided [RCV002922169] |
Chr2:11815243 [GRCh38]
Chr2:11955369 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.957+16A>G |
single nucleotide variant |
not provided [RCV002959228] |
Chr2:11779661 [GRCh38]
Chr2:11919787 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2768C>T (p.Ser923Phe) |
single nucleotide variant |
not provided [RCV003011531] |
Chr2:11824778 [GRCh38]
Chr2:11964904 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2487C>T (p.Pro829=) |
single nucleotide variant |
not provided [RCV002806013] |
Chr2:11819568 [GRCh38]
Chr2:11959694 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.182G>A (p.Arg61Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002896501] |
Chr2:11765723 [GRCh38]
Chr2:11905849 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1549+6G>A |
single nucleotide variant |
not provided [RCV002962825] |
Chr2:11785082 [GRCh38]
Chr2:11925208 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2700G>A (p.Ser900=) |
single nucleotide variant |
not provided [RCV002922773] |
Chr2:11824710 [GRCh38]
Chr2:11964836 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1807-9C>A |
single nucleotide variant |
not provided [RCV002629718] |
Chr2:11795399 [GRCh38]
Chr2:11935525 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1609G>C (p.Asp537His) |
single nucleotide variant |
not provided [RCV002627788] |
Chr2:11787133 [GRCh38]
Chr2:11927259 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1860A>G (p.Gln620=) |
single nucleotide variant |
not provided [RCV002628310] |
Chr2:11795461 [GRCh38]
Chr2:11935587 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2575C>A (p.Pro859Thr) |
single nucleotide variant |
not provided [RCV002834118] |
Chr2:11820468 [GRCh38]
Chr2:11960594 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.490C>T (p.Leu164=) |
single nucleotide variant |
not provided [RCV003060877] |
Chr2:11771573 [GRCh38]
Chr2:11911699 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2653G>A (p.Val885Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003375630]|not provided [RCV002577705] |
Chr2:11824663 [GRCh38]
Chr2:11964789 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.438G>T (p.Pro146=) |
single nucleotide variant |
LPIN1-related condition [RCV003963720]|not provided [RCV002629728] |
Chr2:11771521 [GRCh38]
Chr2:11911647 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1549+8G>A |
single nucleotide variant |
not provided [RCV003089856] |
Chr2:11785084 [GRCh38]
Chr2:11925210 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1378G>A (p.Ala460Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003061433]|not provided [RCV003061434] |
Chr2:11784905 [GRCh38]
Chr2:11925031 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2223C>T (p.Ile741=) |
single nucleotide variant |
LPIN1-related condition [RCV003961156]|Myoglobinuria, acute recurrent, autosomal recessive [RCV003147794]|not provided [RCV002900062] |
Chr2:11805130 [GRCh38]
Chr2:11945256 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_001349206.2(LPIN1):c.1338G>A (p.Ala446=) |
single nucleotide variant |
not provided [RCV002629187] |
Chr2:11783902 [GRCh38]
Chr2:11924028 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2038C>T (p.Pro680Ser) |
single nucleotide variant |
not provided [RCV003061236] |
Chr2:11804447 [GRCh38]
Chr2:11944573 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.176G>A (p.Arg59His) |
single nucleotide variant |
not provided [RCV002937856] |
Chr2:11765717 [GRCh38]
Chr2:11905843 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2702A>T (p.Asp901Val) |
single nucleotide variant |
not provided [RCV002671886] |
Chr2:11824712 [GRCh38]
Chr2:11964838 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.48G>A (p.Lys16=) |
single nucleotide variant |
not provided [RCV002650672] |
Chr2:11765589 [GRCh38]
Chr2:11905715 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1886+9G>T |
single nucleotide variant |
not provided [RCV003088829] |
Chr2:11795496 [GRCh38]
Chr2:11935622 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1545G>C (p.Thr515=) |
single nucleotide variant |
not provided [RCV002963034] |
Chr2:11785072 [GRCh38]
Chr2:11925198 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.648C>A (p.Asn216Lys) |
single nucleotide variant |
not provided [RCV002833451] |
Chr2:11773671 [GRCh38]
Chr2:11913797 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1216A>T (p.Ser406Cys) |
single nucleotide variant |
not provided [RCV003030841] |
Chr2:11782459 [GRCh38]
Chr2:11922585 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2019_2025del (p.Ser673_Leu674insTer) |
deletion |
not provided [RCV003026659] |
Chr2:11804425..11804431 [GRCh38]
Chr2:11944551..11944557 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.312C>T (p.Ala104=) |
single nucleotide variant |
not provided [RCV002631330] |
Chr2:11771395 [GRCh38]
Chr2:11911521 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2086C>T (p.Arg696Cys) |
single nucleotide variant |
not provided [RCV002651126] |
Chr2:11804495 [GRCh38]
Chr2:11944621 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2139T>G (p.Ser713=) |
single nucleotide variant |
not provided [RCV003044958] |
Chr2:11804548 [GRCh38]
Chr2:11944674 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1534C>T (p.Arg512Trp) |
single nucleotide variant |
not provided [RCV003063300] |
Chr2:11785061 [GRCh38]
Chr2:11925187 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1359-5del |
deletion |
not provided [RCV002714855] |
Chr2:11784880 [GRCh38]
Chr2:11925006 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1004G>T (p.Arg335Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002634007]|not provided [RCV002634008] |
Chr2:11782247 [GRCh38]
Chr2:11922373 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.148G>A (p.Val50Ile) |
single nucleotide variant |
LPIN1-related condition [RCV003898759]|not provided [RCV003069098] |
Chr2:11765689 [GRCh38]
Chr2:11905815 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2590G>A (p.Val864Ile) |
single nucleotide variant |
not provided [RCV002635839] |
Chr2:11820483 [GRCh38]
Chr2:11960609 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1867C>G (p.Gln623Glu) |
single nucleotide variant |
not provided [RCV002725450] |
Chr2:11795468 [GRCh38]
Chr2:11935594 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2298G>A (p.Ala766=) |
single nucleotide variant |
not provided [RCV003067731] |
Chr2:11815136 [GRCh38]
Chr2:11955262 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2358G>A (p.Gly786=) |
single nucleotide variant |
not provided [RCV003068634] |
Chr2:11815196 [GRCh38]
Chr2:11955322 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2652C>T (p.His884=) |
single nucleotide variant |
LPIN1-related condition [RCV003898775]|not provided [RCV003069534] |
Chr2:11824662 [GRCh38]
Chr2:11964788 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1443G>T (p.Ser481=) |
single nucleotide variant |
not provided [RCV002633820] |
Chr2:11784970 [GRCh38]
Chr2:11925096 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1887-7G>A |
single nucleotide variant |
not provided [RCV002814738] |
Chr2:11802900 [GRCh38]
Chr2:11943026 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2382C>T (p.Ser794=) |
single nucleotide variant |
LPIN1-related condition [RCV003926571]|not provided [RCV002942810] |
Chr2:11815220 [GRCh38]
Chr2:11955346 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1029del (p.Gln344fs) |
deletion |
Myoglobinuria, acute recurrent, autosomal recessive [RCV003153140]|not provided [RCV003575046] |
Chr2:11782270 [GRCh38]
Chr2:11922396 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.716C>A (p.Thr239Asn) |
single nucleotide variant |
not provided [RCV002585637] |
Chr2:11773739 [GRCh38]
Chr2:11913865 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2124T>C (p.Asp708=) |
single nucleotide variant |
not provided [RCV002944190] |
Chr2:11804533 [GRCh38]
Chr2:11944659 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1172C>T (p.Ala391Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003161746]|not provided [RCV003072674] |
Chr2:11782415 [GRCh38]
Chr2:11922541 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2605A>G (p.Lys869Glu) |
single nucleotide variant |
not provided [RCV003067732] |
Chr2:11820498 [GRCh38]
Chr2:11960624 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2356G>T (p.Gly786Trp) |
single nucleotide variant |
not provided [RCV002586004] |
Chr2:11815194 [GRCh38]
Chr2:11955320 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2013+20C>T |
single nucleotide variant |
not provided [RCV003069472] |
Chr2:11803053 [GRCh38]
Chr2:11943179 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2362C>T (p.Leu788=) |
single nucleotide variant |
not provided [RCV002721808] |
Chr2:11815200 [GRCh38]
Chr2:11955326 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2755C>G (p.Gln919Glu) |
single nucleotide variant |
not provided [RCV002588139] |
Chr2:11824765 [GRCh38]
Chr2:11964891 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1887-13C>T |
single nucleotide variant |
not provided [RCV002653256] |
Chr2:11802894 [GRCh38]
Chr2:11943020 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2518-19T>C |
single nucleotide variant |
not provided [RCV002589999] |
Chr2:11820392 [GRCh38]
Chr2:11960518 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1289C>T (p.Ala430Val) |
single nucleotide variant |
not provided [RCV003067383] |
Chr2:11783853 [GRCh38]
Chr2:11923979 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.957+6A>T |
single nucleotide variant |
not provided [RCV002680807] |
Chr2:11779651 [GRCh38]
Chr2:11919777 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1791C>T (p.Asn597=) |
single nucleotide variant |
not provided [RCV002610835] |
Chr2:11791991 [GRCh38]
Chr2:11932117 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2423C>G (p.Pro808Arg) |
single nucleotide variant |
not provided [RCV002942802] |
Chr2:11819504 [GRCh38]
Chr2:11959630 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.151C>T (p.Arg51Cys) |
single nucleotide variant |
not provided [RCV002943527] |
Chr2:11765692 [GRCh38]
Chr2:11905818 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1490T>G (p.Leu497Arg) |
single nucleotide variant |
not provided [RCV002653314] |
Chr2:11785017 [GRCh38]
Chr2:11925143 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1944C>T (p.Asn648=) |
single nucleotide variant |
not provided [RCV003092951] |
Chr2:11802964 [GRCh38]
Chr2:11943090 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2564T>A (p.Phe855Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003072122]|not provided [RCV003072123] |
Chr2:11820457 [GRCh38]
Chr2:11960583 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2064C>G (p.Thr688=) |
single nucleotide variant |
not provided [RCV002585835] |
Chr2:11804473 [GRCh38]
Chr2:11944599 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1899A>G (p.Glu633=) |
single nucleotide variant |
not provided [RCV002612109] |
Chr2:11802919 [GRCh38]
Chr2:11943045 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1876T>C (p.Leu626=) |
single nucleotide variant |
not provided [RCV002602998] |
Chr2:11795477 [GRCh38]
Chr2:11935603 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2332G>A (p.Glu778Lys) |
single nucleotide variant |
not provided [RCV002603062] |
Chr2:11815170 [GRCh38]
Chr2:11955296 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.563C>T (p.Ser188Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003199919] |
Chr2:11771646 [GRCh38]
Chr2:11911772 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.584T>C (p.Leu195Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003198126] |
Chr2:11771667 [GRCh38]
Chr2:11911793 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1388C>A (p.Ala463Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003211113] |
Chr2:11784915 [GRCh38]
Chr2:11925041 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.661G>A (p.Val221Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003304901] |
Chr2:11773684 [GRCh38]
Chr2:11913810 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.446G>A (p.Ser149Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003373788] |
Chr2:11771529 [GRCh38]
Chr2:11911655 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2672G>C (p.Arg891Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003385241] |
Chr2:11824682 [GRCh38]
Chr2:11964808 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.193-2A>G |
single nucleotide variant |
not provided [RCV003571130] |
Chr2:11767761 [GRCh38]
Chr2:11907887 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_001349206.2(LPIN1):c.2102T>G (p.Ile701Ser) |
single nucleotide variant |
not provided [RCV003481599] |
Chr2:11804511 [GRCh38]
Chr2:11944637 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.501G>A (p.Leu167=) |
single nucleotide variant |
not provided [RCV003407164] |
Chr2:11771584 [GRCh38]
Chr2:11911710 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2037C>T (p.Gly679=) |
single nucleotide variant |
not provided [RCV003457054] |
Chr2:11804446 [GRCh38]
Chr2:11944572 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.984G>T (p.Glu328Asp) |
single nucleotide variant |
LPIN1-related condition [RCV003400094] |
Chr2:11782227 [GRCh38]
Chr2:11922353 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1599C>T (p.Pro533=) |
single nucleotide variant |
not provided [RCV003738738] |
Chr2:11787123 [GRCh38]
Chr2:11927249 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2621+3G>A |
single nucleotide variant |
not provided [RCV003687150] |
Chr2:11820517 [GRCh38]
Chr2:11960643 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1074G>A (p.Ser358=) |
single nucleotide variant |
LPIN1-related condition [RCV003893555]|not provided [RCV003878410] |
Chr2:11782317 [GRCh38]
Chr2:11922443 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.342G>C (p.Ser114=) |
single nucleotide variant |
not provided [RCV003546263] |
Chr2:11771425 [GRCh38]
Chr2:11911551 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2160C>T (p.Thr720=) |
single nucleotide variant |
not provided [RCV003576812] |
Chr2:11804569 [GRCh38]
Chr2:11944695 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2691T>C (p.Phe897=) |
single nucleotide variant |
not provided [RCV003877853] |
Chr2:11824701 [GRCh38]
Chr2:11964827 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2013+15C>A |
single nucleotide variant |
not provided [RCV003544697] |
Chr2:11803048 [GRCh38]
Chr2:11943174 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1116T>G (p.Pro372=) |
single nucleotide variant |
not provided [RCV003739187] |
Chr2:11782359 [GRCh38]
Chr2:11922485 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.972C>T (p.His324=) |
single nucleotide variant |
not provided [RCV003547598] |
Chr2:11782215 [GRCh38]
Chr2:11922341 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1503C>T (p.Ala501=) |
single nucleotide variant |
not provided [RCV003876828] |
Chr2:11785030 [GRCh38]
Chr2:11925156 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.582G>T (p.Leu194=) |
single nucleotide variant |
not provided [RCV003662665] |
Chr2:11771665 [GRCh38]
Chr2:11911791 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.935G>C (p.Gly312Ala) |
single nucleotide variant |
not provided [RCV003687134] |
Chr2:11779623 [GRCh38]
Chr2:11919749 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.852A>G (p.Ser284=) |
single nucleotide variant |
not provided [RCV003692998] |
Chr2:11779540 [GRCh38]
Chr2:11919666 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1806+12A>G |
single nucleotide variant |
not provided [RCV003580797] |
Chr2:11792018 [GRCh38]
Chr2:11932144 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1404C>T (p.Ala468=) |
single nucleotide variant |
not provided [RCV003550251] |
Chr2:11784931 [GRCh38]
Chr2:11925057 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.596+10G>A |
single nucleotide variant |
not provided [RCV003659168] |
Chr2:11771689 [GRCh38]
Chr2:11911815 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.957+20T>C |
single nucleotide variant |
not provided [RCV003659207] |
Chr2:11779665 [GRCh38]
Chr2:11919791 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1265-4T>C |
single nucleotide variant |
LPIN1-related condition [RCV003946724]|not provided [RCV003580030] |
Chr2:11783825 [GRCh38]
Chr2:11923951 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.483G>A (p.Lys161=) |
single nucleotide variant |
not provided [RCV003726060] |
Chr2:11771566 [GRCh38]
Chr2:11911692 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1296C>T (p.Gly432=) |
single nucleotide variant |
not provided [RCV003548575] |
Chr2:11783860 [GRCh38]
Chr2:11923986 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.955A>G (p.Lys319Glu) |
single nucleotide variant |
not provided [RCV003850007] |
Chr2:11779643 [GRCh38]
Chr2:11919769 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1842C>G (p.Ala614=) |
single nucleotide variant |
not provided [RCV003670014] |
Chr2:11795443 [GRCh38]
Chr2:11935569 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1264+12G>A |
single nucleotide variant |
not provided [RCV003561787] |
Chr2:11782519 [GRCh38]
Chr2:11922645 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2568C>T (p.Thr856=) |
single nucleotide variant |
LPIN1-related condition [RCV003946706]|not provided [RCV003561707] |
Chr2:11820461 [GRCh38]
Chr2:11960587 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2199G>A (p.Gly733=) |
single nucleotide variant |
not provided [RCV003725689] |
Chr2:11805106 [GRCh38]
Chr2:11945232 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1061T>G (p.Phe354Cys) |
single nucleotide variant |
not provided [RCV003560645] |
Chr2:11782304 [GRCh38]
Chr2:11922430 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1191C>T (p.Ile397=) |
single nucleotide variant |
not provided [RCV003559650] |
Chr2:11782434 [GRCh38]
Chr2:11922560 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2004C>T (p.Ser668=) |
single nucleotide variant |
not provided [RCV003561686] |
Chr2:11803024 [GRCh38]
Chr2:11943150 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1119G>A (p.Gln373=) |
single nucleotide variant |
not provided [RCV003561708] |
Chr2:11782362 [GRCh38]
Chr2:11922488 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.321C>G (p.Pro107=) |
single nucleotide variant |
not provided [RCV003672318] |
Chr2:11771404 [GRCh38]
Chr2:11911530 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.288+14G>T |
single nucleotide variant |
not provided [RCV003851366] |
Chr2:11767872 [GRCh38]
Chr2:11907998 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1609G>A (p.Asp537Asn) |
single nucleotide variant |
not provided [RCV003832426] |
Chr2:11787133 [GRCh38]
Chr2:11927259 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1884C>G (p.Thr628=) |
single nucleotide variant |
not provided [RCV003673172] |
Chr2:11795485 [GRCh38]
Chr2:11935611 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.42C>A (p.Thr14=) |
single nucleotide variant |
not provided [RCV003672790] |
Chr2:11765583 [GRCh38]
Chr2:11905709 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1343T>G (p.Leu448Arg) |
single nucleotide variant |
not provided [RCV003557947] |
Chr2:11783907 [GRCh38]
Chr2:11924033 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2439C>T (p.Val813=) |
single nucleotide variant |
not provided [RCV003866634] |
Chr2:11819520 [GRCh38]
Chr2:11959646 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2277T>C (p.Ser759=) |
single nucleotide variant |
not provided [RCV003728456] |
Chr2:11815115 [GRCh38]
Chr2:11955241 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2249+12G>C |
single nucleotide variant |
not provided [RCV003565119] |
Chr2:11805168 [GRCh38]
Chr2:11945294 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1337C>T (p.Ala446Val) |
single nucleotide variant |
not provided [RCV003555706] |
Chr2:11783901 [GRCh38]
Chr2:11924027 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2538A>G (p.Gln846=) |
single nucleotide variant |
not provided [RCV003734246] |
Chr2:11820431 [GRCh38]
Chr2:11960557 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1292A>C (p.Asp431Ala) |
single nucleotide variant |
not provided [RCV003867214] |
Chr2:11783856 [GRCh38]
Chr2:11923982 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.835del (p.Ser279fs) |
deletion |
not provided [RCV003861244] |
Chr2:11779522 [GRCh38]
Chr2:11919648 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.720C>T (p.Pro240=) |
single nucleotide variant |
not provided [RCV003550424] |
Chr2:11773743 [GRCh38]
Chr2:11913869 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1713+18A>G |
single nucleotide variant |
not provided [RCV003737774] |
Chr2:11788474 [GRCh38]
Chr2:11928600 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2096G>A (p.Gly699Asp) |
single nucleotide variant |
not provided [RCV003823106] |
Chr2:11804505 [GRCh38]
Chr2:11944631 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.2721C>G (p.Thr907=) |
single nucleotide variant |
not provided [RCV003676122] |
Chr2:11824731 [GRCh38]
Chr2:11964857 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1851C>T (p.Thr617=) |
single nucleotide variant |
not provided [RCV003553070] |
Chr2:11795452 [GRCh38]
Chr2:11935578 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1950C>T (p.Gly650=) |
single nucleotide variant |
not provided [RCV003732524] |
Chr2:11802970 [GRCh38]
Chr2:11943096 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1887-11G>C |
single nucleotide variant |
not provided [RCV003685930] |
Chr2:11802896 [GRCh38]
Chr2:11943022 [GRCh37]
Chr2:2p25.1 |
likely benign |
| GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3 |
copy number gain |
not specified [RCV003986320] |
Chr2:6375088..23538518 [GRCh37]
Chr2:2p25.2-24.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.2646C>T (p.Val882=) |
single nucleotide variant |
LPIN1-related condition [RCV003948950]|not provided [RCV003721920] |
Chr2:11824656 [GRCh38]
Chr2:11964782 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2430G>A (p.Lys810=) |
single nucleotide variant |
not provided [RCV003677477] |
Chr2:11819511 [GRCh38]
Chr2:11959637 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2193C>G (p.Thr731=) |
single nucleotide variant |
not provided [RCV003710154] |
Chr2:11805100 [GRCh38]
Chr2:11945226 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.9C>T (p.Tyr3=) |
single nucleotide variant |
not provided [RCV003556812] |
Chr2:11765550 [GRCh38]
Chr2:11905676 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2249+18G>A |
single nucleotide variant |
not provided [RCV003568423] |
Chr2:11805174 [GRCh38]
Chr2:11945300 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1887-2A>C |
single nucleotide variant |
not provided [RCV003707415] |
Chr2:11802905 [GRCh38]
Chr2:11943031 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_001349206.2(LPIN1):c.1279C>T (p.His427Tyr) |
single nucleotide variant |
not provided [RCV003710361] |
Chr2:11783843 [GRCh38]
Chr2:11923969 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.78_79del (p.Ser28fs) |
microsatellite |
not provided [RCV003703859] |
Chr2:11765616..11765617 [GRCh38]
Chr2:11905742..11905743 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_001349206.2(LPIN1):c.2281C>T (p.Arg761Cys) |
single nucleotide variant |
not provided [RCV003554498] |
Chr2:11815119 [GRCh38]
Chr2:11955245 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_001349206.2(LPIN1):c.2621+10G>A |
single nucleotide variant |
not provided [RCV003818303] |
Chr2:11820524 [GRCh38]
Chr2:11960650 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.2621+11T>G |
single nucleotide variant |
not provided [RCV003853514] |
Chr2:11820525 [GRCh38]
Chr2:11960651 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1173G>A (p.Ala391=) |
single nucleotide variant |
not provided [RCV003823994] |
Chr2:11782416 [GRCh38]
Chr2:11922542 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1887-10T>C |
single nucleotide variant |
not provided [RCV003556414] |
Chr2:11802897 [GRCh38]
Chr2:11943023 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.435G>A (p.Thr145=) |
single nucleotide variant |
not provided [RCV003859985] |
Chr2:11771518 [GRCh38]
Chr2:11911644 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1359-9T>A |
single nucleotide variant |
not provided [RCV003845056] |
Chr2:11784877 [GRCh38]
Chr2:11925003 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1815G>A (p.Lys605=) |
single nucleotide variant |
not provided [RCV003848363] |
Chr2:11795416 [GRCh38]
Chr2:11935542 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1443G>A (p.Ser481=) |
single nucleotide variant |
not provided [RCV003859049] |
Chr2:11784970 [GRCh38]
Chr2:11925096 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1071A>G (p.Gln357=) |
single nucleotide variant |
not provided [RCV003858808] |
Chr2:11782314 [GRCh38]
Chr2:11922440 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1023T>G (p.Ser341Arg) |
single nucleotide variant |
not provided [RCV003554176] |
Chr2:11782266 [GRCh38]
Chr2:11922392 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.-9-9G>T |
single nucleotide variant |
LPIN1-related condition [RCV003921677] |
Chr2:11765524 [GRCh38]
Chr2:11905650 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001261428.3(LPIN1):c.22C>T (p.Arg8Cys) |
single nucleotide variant |
LPIN1-related condition [RCV003904179] |
Chr2:11677669 [GRCh38]
Chr2:11817795 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.597-9_597-8del |
deletion |
LPIN1-related condition [RCV003961602] |
Chr2:11773602..11773603 [GRCh38]
Chr2:11913728..11913729 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1714-137G>A |
single nucleotide variant |
LPIN1-related condition [RCV003922031] |
Chr2:11791777 [GRCh38]
Chr2:11931903 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_001349206.2(LPIN1):c.1139A>G (p.Asn380Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003362224] |
Chr2:11782382 [GRCh38]
Chr2:11922508 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001261428.3(LPIN1):c.39G>C (p.Glu13Asp) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV001730691]|not provided [RCV000843212]|not specified [RCV000455818] |
Chr2:11677686 [GRCh38]
Chr2:11817812 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_001349206.2(LPIN1):c.2486C>G (p.Pro829Arg) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV003131500] |
Chr2:11819567 [GRCh38]
Chr2:11959693 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001349206.2(LPIN1):c.1442C>T (p.Ser481Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003263539] |
Chr2:11784969 [GRCh38]
Chr2:11925095 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
