| NM_145693.4(LPIN1):c.722+2339A>C |
single nucleotide variant |
not specified [RCV000519553] |
Chr2:11776084 [GRCh38]
Chr2:11916210 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.2257C>A (p.Leu753Met) |
single nucleotide variant |
not specified [RCV000520738]|not specified [RCV000791073] |
Chr2:11815203 [GRCh38]
Chr2:11955329 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.643G>T (p.Glu215Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005192]|Myoglobinuria, recurrent, autosomal recessive [RCV000005192] |
Chr2:11773666 [GRCh38]
Chr2:11913792 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_145693.4(LPIN1):c.1162C>T (p.Arg388Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005193]|Myoglobinuria, recurrent, autosomal recessive [RCV000005193]|not provided [RCV000760456] |
Chr2:11783834 [GRCh38]
Chr2:11923960 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_145693.4(LPIN1):c.2401C>T (p.Arg801Ter) |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005194]|Myoglobinuria, recurrent, autosomal recessive [RCV000005194]|not provided [RCV000760457] |
Chr2:11819590 [GRCh38]
Chr2:11959716 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_145693.3(LPIN1):c.2295-?_2513+?del |
deletion |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005195]|Myoglobinuria, recurrent, autosomal recessive [RCV000005195] |
Chr2:11819484..11820514 [GRCh38]
Chr2:11959610..11960640 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_145693.4(LPIN1):c.1441+2T>C |
single nucleotide variant |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000005196]|Myoglobinuria, recurrent, autosomal recessive [RCV000005196] |
Chr2:11785078 [GRCh38]
Chr2:11925204 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_145693.4(LPIN1):c.669C>G (p.Tyr223Ter) |
single nucleotide variant |
not provided [RCV000722575] |
Chr2:11773692 [GRCh38]
Chr2:11913818 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.-10+4A>G |
single nucleotide variant |
not specified [RCV000522800] |
Chr2:11746675 [GRCh38]
Chr2:11886801 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1475A>G (p.Gln492Arg) |
single nucleotide variant |
not specified [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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052928]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052928]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052929]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052929]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052931]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052931]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052933]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052933]|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 |
Abnormal facial shape [RCV000052627]|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 |
Global developmental delay [RCV000053978]|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_145693.4(LPIN1):c.192+17C>T |
single nucleotide variant |
AllHighlyPenetrant [RCV000082647]|not specified [RCV000082647] |
Chr2:11765750 [GRCh38]
Chr2:11905876 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.2174G>A (p.Arg725His) |
single nucleotide variant |
not specified [RCV000082648] |
Chr2:11815120 [GRCh38]
Chr2:11955246 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.552C>T (p.Ile184=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000260825]|AllHighlyPenetrant [RCV000082649]|not specified [RCV000082649] |
Chr2:11771635 [GRCh38]
Chr2:11911761 [GRCh37]
Chr2:2p25.1 |
benign|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_145693.4(LPIN1):c.1185C>T (p.Asp395=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000396641] |
Chr2:11783857 [GRCh38]
Chr2:11923983 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.858T>C (p.Ser286=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000402688] |
Chr2:11782209 [GRCh38]
Chr2:11922335 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1778+7T>C |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000297725] |
Chr2:11795494 [GRCh38]
Chr2:11935620 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.975G>A (p.Leu325=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000294503] |
Chr2:11782326 [GRCh38]
Chr2:11922452 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.138C>G (p.Ser46=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000275107] |
Chr2:11765679 [GRCh38]
Chr2:11905805 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.110G>A (p.Arg37His) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000276432] |
Chr2:11765651 [GRCh38]
Chr2:11905777 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.2553G>A (p.Pro851=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000265840] |
Chr2:11824671 [GRCh38]
Chr2:11964797 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.616C>G (p.Pro206Ala) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000380031]|not specified [RCV000523572] |
Chr2:11773639 [GRCh38]
Chr2:11913765 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.695C>T (p.Ser232Leu) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000383344] |
Chr2:11773718 [GRCh38]
Chr2:11913844 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.72C>T (p.Pro24=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000363608] |
Chr2:11765613 [GRCh38]
Chr2:11905739 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.2285C>A (p.Ala762Asp) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000358200] |
Chr2:11815231 [GRCh38]
Chr2:11955357 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.597-4C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000323127] |
Chr2:11773616 [GRCh38]
Chr2:11913742 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1266A>C (p.Gly422=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000312249] |
Chr2:11784901 [GRCh38]
Chr2:11925027 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.119A>G (p.Asn40Ser) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000315110] |
Chr2:11765660 [GRCh38]
Chr2:11905786 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*2052C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000342967] |
Chr2:11826843 [GRCh38]
Chr2:11966969 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1117C>G (p.Gln373Glu) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000351789] |
Chr2:11782468 [GRCh38]
Chr2:11922594 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.429C>T (p.Ser143=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000353411] |
Chr2:11771512 [GRCh38]
Chr2:11911638 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1816G>A (p.Ala606Thr) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000354981] |
Chr2:11802944 [GRCh38]
Chr2:11943070 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1828C>T (p.Pro610Ser) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000267070]|not specified [RCV000246076] |
Chr2:11802956 [GRCh38]
Chr2:11943082 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_145693.4(LPIN1):c.*2491G>A |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000273474] |
Chr2:11827282 [GRCh38]
Chr2:11967408 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.*2029G>A |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000283237] |
Chr2:11826820 [GRCh38]
Chr2:11966946 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1156+34G>C |
single nucleotide variant |
not specified [RCV000243849] |
Chr2:11782541 [GRCh38]
Chr2:11922667 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.1445C>T (p.Ala482Val) |
single nucleotide variant |
not specified [RCV000249019] |
Chr2:11787077 [GRCh38]
Chr2:11927203 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.1621A>G (p.Ile541Val) |
single nucleotide variant |
not specified [RCV000249108] |
Chr2:11791929 [GRCh38]
Chr2:11932055 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.2250G>C (p.Gly750=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000324516]|not specified [RCV000241861] |
Chr2:11815196 [GRCh38]
Chr2:11955322 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_145693.4(LPIN1):c.420C>T (p.Ile140=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000318540]|not specified [RCV000241969] |
Chr2:11771503 [GRCh38]
Chr2:11911629 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_145693.4(LPIN1):c.1536-36C>T |
single nucleotide variant |
not specified [RCV000244333] |
Chr2:11788351 [GRCh38]
Chr2:11928477 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.657G>A (p.Leu219=) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000283013]|not specified [RCV000251924] |
Chr2:11773680 [GRCh38]
Chr2:11913806 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_145693.4(LPIN1):c.1698+41G>T |
single nucleotide variant |
not provided [RCV000843244]|not specified [RCV000254293] |
Chr2:11792047 [GRCh38]
Chr2:11932173 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.193-43G>T |
single nucleotide variant |
not specified [RCV000254385] |
Chr2:11767720 [GRCh38]
Chr2:11907846 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.2054+39T>C |
single nucleotide variant |
not specified [RCV000249683] |
Chr2:11804610 [GRCh38]
Chr2:11944736 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.1480G>A (p.Val494Met) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000355477]|not specified [RCV000252145] |
Chr2:11787112 [GRCh38]
Chr2:11927238 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_145693.4(LPIN1):c.696G>C (p.Ser232=) |
single nucleotide variant |
not specified [RCV000242480] |
Chr2:11773719 [GRCh38]
Chr2:11913845 [GRCh37]
Chr2:2p25.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_145693.4(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_145693.4(LPIN1):c.*1570C>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000275323] |
Chr2:11826361 [GRCh38]
Chr2:11966487 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.2487G>A (p.Gln829=) |
single nucleotide variant |
not specified [RCV000245020] |
Chr2:11820488 [GRCh38]
Chr2:11960614 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.850_852TCT[2] (p.Ser286del) |
microsatellite |
Acute Recurrent Myoglobinuria [RCV000343678]|not specified [RCV000247627] |
Chr2:11782207..11782209 [GRCh38]
Chr2:11922333..11922335 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_145693.4(LPIN1):c.289-35C>T |
single nucleotide variant |
not specified [RCV000250181] |
Chr2:11771337 [GRCh38]
Chr2:11911463 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.*1699G>A |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000276368] |
Chr2:11826490 [GRCh38]
Chr2:11966616 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.*897C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000396979] |
Chr2:11825688 [GRCh38]
Chr2:11965814 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.*1263C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000396985] |
Chr2:11826054 [GRCh38]
Chr2:11966180 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1708G>A |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000317471] |
Chr2:11826499 [GRCh38]
Chr2:11966625 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001261427.2(LPIN1):c.9+5178T>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000302981] |
Chr2:11746606 [GRCh38]
Chr2:11886732 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1780A>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000337106] |
Chr2:11826571 [GRCh38]
Chr2:11966697 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1082del |
deletion |
Acute Recurrent Myoglobinuria [RCV000304030] |
Chr2:11825873 [GRCh38]
Chr2:11965999 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.*624A>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000405105] |
Chr2:11825415 [GRCh38]
Chr2:11965541 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.*326C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000384752] |
Chr2:11825117 [GRCh38]
Chr2:11965243 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.*1374G>C |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000306481] |
Chr2:11826165 [GRCh38]
Chr2:11966291 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.-11C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000306579] |
Chr2:11746670 [GRCh38]
Chr2:11886796 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*2086C>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000307932] |
Chr2:11826877 [GRCh38]
Chr2:11967003 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.*2213G>A |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000344077] |
Chr2:11827004 [GRCh38]
Chr2:11967130 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1400T>C |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000363530] |
Chr2:11826191 [GRCh38]
Chr2:11966317 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.*2284A>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000308661] |
Chr2:11827075 [GRCh38]
Chr2:11967201 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*538C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000388745] |
Chr2:11825329 [GRCh38]
Chr2:11965455 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*425G>A |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000327091] |
Chr2:11825216 [GRCh38]
Chr2:11965342 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.*1671C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000389533] |
Chr2:11826462 [GRCh38]
Chr2:11966588 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*2302G>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000368041] |
Chr2:11827093 [GRCh38]
Chr2:11967219 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*623A>C |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000349116] |
Chr2:11825414 [GRCh38]
Chr2:11965540 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*541C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000296800] |
Chr2:11825332 [GRCh38]
Chr2:11965458 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1656G>C |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000330376] |
Chr2:11826447 [GRCh38]
Chr2:11966573 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*2274C>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000395179] |
Chr2:11827065 [GRCh38]
Chr2:11967191 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*2082C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000395182] |
Chr2:11826873 [GRCh38]
Chr2:11966999 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.-26A>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000395316] |
Chr2:11746655 [GRCh38]
Chr2:11886781 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*676C>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000281433] |
Chr2:11825467 [GRCh38]
Chr2:11965593 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1747del |
deletion |
Acute Recurrent Myoglobinuria [RCV000282235] |
Chr2:11826538 [GRCh38]
Chr2:11966664 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1357G>C |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000272408] |
Chr2:11826148 [GRCh38]
Chr2:11966274 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1253_1254GA[3] (p.Asp419fs) |
microsatellite |
not provided [RCV000373103] |
Chr2:11784890..11784891 [GRCh38]
Chr2:11925016..11925017 [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_145693.4(LPIN1):c.2129A>G (p.His710Arg) |
single nucleotide variant |
not provided [RCV000722960] |
Chr2:11805144 [GRCh38]
Chr2:11945270 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.722+4A>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000291423] |
Chr2:11773749 [GRCh38]
Chr2:11913875 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1339_*1341ATT[1] |
microsatellite |
Acute Recurrent Myoglobinuria [RCV000302915] |
Chr2:11826133..11826135 [GRCh38]
Chr2:11966259..11966261 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*2597C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000314492] |
Chr2:11827388 [GRCh38]
Chr2:11967514 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_001261427.2(LPIN1):c.9+5184G>A |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000346136] |
Chr2:11746612 [GRCh38]
Chr2:11886738 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1343T>C |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000364564] |
Chr2:11826134 [GRCh38]
Chr2:11966260 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1682A>G (p.Asn561Ser) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000401385] |
Chr2:11791990 [GRCh38]
Chr2:11932116 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.124A>G (p.Asn42Asp) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000367401] |
Chr2:11765665 [GRCh38]
Chr2:11905791 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.688C>T (p.Pro230Ser) |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000321734] |
Chr2:11773711 [GRCh38]
Chr2:11913837 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*816A>G |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000338823] |
Chr2:11825607 [GRCh38]
Chr2:11965733 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1722del |
deletion |
Acute Recurrent Myoglobinuria [RCV000372003] |
Chr2:11826513 [GRCh38]
Chr2:11966639 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.2572T>A (p.Ser858Thr) |
single nucleotide variant |
not specified [RCV000522852] |
Chr2:11824690 [GRCh38]
Chr2:11964816 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*404G>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000288492] |
Chr2:11825195 [GRCh38]
Chr2:11965321 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*99C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000327841] |
Chr2:11824890 [GRCh38]
Chr2:11965016 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*2005del |
deletion |
Acute Recurrent Myoglobinuria [RCV000377645] |
Chr2:11826796 [GRCh38]
Chr2:11966922 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.*1101C>T |
single nucleotide variant |
Acute Recurrent Myoglobinuria [RCV000360981] |
Chr2:11825892 [GRCh38]
Chr2:11966018 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.2054+5G>A |
single nucleotide variant |
not specified [RCV000413731] |
Chr2:11804576 [GRCh38]
Chr2:11944702 [GRCh37]
Chr2:2p25.1 |
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_145693.4(LPIN1):c.2212C>T (p.His738Tyr) |
single nucleotide variant |
not specified [RCV000417929] |
Chr2:11815158 [GRCh38]
Chr2:11955284 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.734C>A (p.Ser245Tyr) |
single nucleotide variant |
not specified [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_001349207.2(LPIN1):c.81+36059G>A |
single nucleotide variant |
not provided [RCV000843237]|not specified [RCV000454503] |
Chr2:11713787 [GRCh38]
Chr2:11853913 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.2055-1G>T |
single nucleotide variant |
not specified [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 |
| NM_001261428.3(LPIN1):c.39G>C (p.Glu13Asp) |
single nucleotide variant |
not provided [RCV000843212]|not specified [RCV000455818] |
Chr2:11677686 [GRCh38]
Chr2:11817812 [GRCh37]
Chr2:2p25.1 |
benign |
| 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_145693.4(LPIN1):c.2326A>G (p.Lys776Glu) |
single nucleotide variant |
not specified [RCV000594469] |
Chr2:11819515 [GRCh38]
Chr2:11959641 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1156+5C>T |
single nucleotide variant |
not specified [RCV000607359] |
Chr2:11782512 [GRCh38]
Chr2:11922638 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.2055A>G (p.Arg685=) |
single nucleotide variant |
not specified [RCV000611604] |
Chr2:11805070 [GRCh38]
Chr2:11945196 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_145693.4(LPIN1):c.936C>T (p.Ser312=) |
single nucleotide variant |
not specified [RCV000594448] |
Chr2:11782287 [GRCh38]
Chr2:11922413 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| 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 |
| Single allele |
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_145693.4(LPIN1):c.1259del (p.Pro420fs) |
deletion |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000779277] |
Chr2:11784894 [GRCh38]
Chr2:11925018..11925019 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_145693.4(LPIN1):c.1906-152G>A |
single nucleotide variant |
not provided [RCV000839348] |
Chr2:11804271 [GRCh38]
Chr2:11944397 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NC_000002.12:g.11804466_11804484dup |
variation |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000824909] |
|
likely pathogenic |
| NC_000002.11:g.11853755G>A |
single nucleotide variant |
not provided [RCV000829839] |
Chr2:11853755 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.192+197A>C |
single nucleotide variant |
not provided [RCV000843268] |
Chr2:11765930 [GRCh38]
Chr2:11906056 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11854012G>A |
single nucleotide variant |
not provided [RCV000829856] |
Chr2:11854012 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.1441+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_145693.4(LPIN1):c.1698+203T>C |
single nucleotide variant |
not provided [RCV000843245] |
Chr2:11792209 [GRCh38]
Chr2:11932335 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.2294+237C>T |
single nucleotide variant |
not provided [RCV000843247] |
Chr2:11815477 [GRCh38]
Chr2:11955603 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.596+152G>T |
single nucleotide variant |
not provided [RCV000829605] |
Chr2:11771831 [GRCh38]
Chr2:11911957 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.12:g.11767716C>T |
single nucleotide variant |
not provided [RCV000829604] |
Chr2:11907842 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.596+176C>G |
single nucleotide variant |
not provided [RCV000829606] |
Chr2:11771855 [GRCh38]
Chr2:11911981 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11817364G>A |
single nucleotide variant |
not provided [RCV000830338] |
Chr2:11817364 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.1156+273C>T |
single nucleotide variant |
not provided [RCV000828736] |
Chr2:11782780 [GRCh38]
Chr2:11922906 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.12:g.11820411G>C |
variation |
Myoglobinuria, acute recurrent, autosomal recessive [RCV000824910] |
|
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 |
| NC_000002.11:g.11853774T>C |
single nucleotide variant |
not provided [RCV000843233] |
Chr2:11853774 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11853988A>T |
single nucleotide variant |
not provided [RCV000843234] |
Chr2:11853988 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11854099T>C |
single nucleotide variant |
not provided [RCV000843235] |
Chr2:11854099 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11853964G>A |
single nucleotide variant |
not provided [RCV000843238] |
Chr2:11853964 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.1251-62T>C |
single nucleotide variant |
not provided [RCV000843240] |
Chr2:11784824 [GRCh38]
Chr2:11924950 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.850-273A>G |
single nucleotide variant |
not provided [RCV000828735] |
Chr2:11781928 [GRCh38]
Chr2:11922054 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11817362T>G |
single nucleotide variant |
not provided [RCV000844498] |
Chr2:11817362 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11881198A>C |
single nucleotide variant |
not provided [RCV000844504] |
Chr2:11881198 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11881809T>G |
single nucleotide variant |
not provided [RCV000844509] |
Chr2:11881809 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.2141+251C>A |
single nucleotide variant |
not provided [RCV000844514] |
Chr2:11805407 [GRCh38]
Chr2:11945533 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11817705G>A |
single nucleotide variant |
not provided [RCV000826389] |
Chr2:11817705 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.11853722T>C |
single nucleotide variant |
not provided [RCV000829840] |
Chr2:11853722 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_145693.4(LPIN1):c.-9-161C>T |
single nucleotide variant |
not provided [RCV000839339] |
Chr2:11765372 [GRCh38]
Chr2:11905498 [GRCh37]
Chr2:2p25.1 |
benign |
| GRCh37/hg19 2p25.1(chr2:11405245-12054698)x3 |
copy number gain |
not provided [RCV000847022] |
Chr2:11405245..12054698 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
Gene-Chemical Interaction Annotations
