NM_001381.3(DOK1):c.116G>A (p.Arg39Gln) |
single nucleotide variant |
Malignant melanoma [RCV000065684] |
Chr2:74555209 [GRCh38] Chr2:74782336 [GRCh37] Chr2:74635844 [NCBI36] Chr2:2p13.1 |
not provided |
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000004589]|not provided [RCV000891932] |
Chr2:74532698 [GRCh38] Chr2:74759825 [GRCh37] Chr2:2p13.1 |
pathogenic|risk factor|benign|likely benign |
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 |
copy number gain |
See cases [RCV000136053] |
Chr2:58279519..83586962 [GRCh38] Chr2:58506654..83814086 [GRCh37] Chr2:58360158..83667597 [NCBI36] Chr2:2p16.1-11.2 |
pathogenic |
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 |
copy number gain |
See cases [RCV000137586] |
Chr2:47620388..86702722 [GRCh38] Chr2:47847527..86929845 [GRCh37] Chr2:47701031..86783356 [NCBI36] Chr2:2p16.3-11.2 |
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 |
NM_032603.5(LOXL3):c.79C>G (p.Pro27Ala) |
single nucleotide variant |
not provided [RCV000889446]|not specified [RCV000244293] |
Chr2:74552556 [GRCh38] Chr2:74779683 [GRCh37] Chr2:2p13.1 |
benign|likely benign |
NM_013247.5(HTRA2):c.*249G>C |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000269361] |
Chr2:74533234 [GRCh38] Chr2:74760361 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1124G>A (p.Arg375His) |
single nucleotide variant |
not provided [RCV002058377]|not specified [RCV000247543] |
Chr2:74536120 [GRCh38] Chr2:74763247 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.1843A>T (p.Ile615Phe) |
single nucleotide variant |
not provided [RCV001683127]|not specified [RCV000252508] |
Chr2:74534412 [GRCh38] Chr2:74761539 [GRCh37] Chr2:2p13.1 |
benign |
NM_013247.4(HTRA2):c.*531A>G |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000376027]|not provided [RCV004709945] |
Chr2:74533516 [GRCh38] Chr2:74760643 [GRCh37] Chr2:2p13.1 |
benign|likely benign |
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=) |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000303598]|not provided [RCV001432943] |
Chr2:74532634 [GRCh38] Chr2:74759761 [GRCh37] Chr2:2p13.1 |
likely benign|uncertain significance |
NM_013247.5(HTRA2):c.*94C>T |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000382529]|not provided [RCV001534992] |
Chr2:74533079 [GRCh38] Chr2:74760206 [GRCh37] Chr2:2p13.1 |
benign|likely benign |
NM_013247.4(HTRA2):c.*384C>A |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000388231]|not provided [RCV004708679] |
Chr2:74533369 [GRCh38] Chr2:74760496 [GRCh37] Chr2:2p13.1 |
benign|likely benign |
NM_013247.4(HTRA2):c.*443T>A |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000294376] |
Chr2:74533428 [GRCh38] Chr2:74760555 [GRCh37] Chr2:2p13.1 |
benign|likely benign |
NM_013247.4(HTRA2):c.*537G>A |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000281556] |
Chr2:74533522 [GRCh38] Chr2:74760649 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.*291G>A |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000333698] |
Chr2:74533276 [GRCh38] Chr2:74760403 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.4(HTRA2):c.*513T>A |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000349274] |
Chr2:74533498 [GRCh38] Chr2:74760625 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile) |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV000328008]|not provided [RCV001861156] |
Chr2:74532954 [GRCh38] Chr2:74760081 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.*265C>T |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV001138539] |
Chr2:74533250 [GRCh38] Chr2:74760377 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln) |
single nucleotide variant |
3-methylglutaconic aciduria type 8 [RCV000412669]|not provided [RCV002523896] |
Chr2:74532714 [GRCh38] Chr2:74759841 [GRCh37] Chr2:2p13.1 |
pathogenic |
NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs) |
deletion |
3-methylglutaconic aciduria type 8 [RCV000412533] |
Chr2:74532920..74532924 [GRCh38] Chr2:74760047..74760051 [GRCh37] Chr2:2p13.1 |
pathogenic |
GRCh37/hg19 2p13.1(chr2:74707255-74950792)x3 |
copy number gain |
See cases [RCV000448878] |
Chr2:74707255..74950792 [GRCh37] Chr2:2p13.1 |
uncertain significance |
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 |
copy number gain |
See cases [RCV000448688] |
Chr2:62245236..86978895 [GRCh37] Chr2:2p15-11.2 |
pathogenic |
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 |
copy number loss |
See cases [RCV000510763] |
Chr2:74365484..89129064 [GRCh37] Chr2:2p13.1-11.2 |
pathogenic |
NM_032603.5(LOXL3):c.25T>C (p.Trp9Arg) |
single nucleotide variant |
not specified [RCV004305747] |
Chr2:74552610 [GRCh38] Chr2:74779737 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1210C>T (p.Arg404Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002530850]|not provided [RCV000585581] |
Chr2:74532713 [GRCh38] Chr2:74759840 [GRCh37] Chr2:2p13.1 |
uncertain significance |
GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3 |
copy number gain |
See cases [RCV000136651] |
Chr2:74432069..75181627 [GRCh38] Chr2:74659196..75408753 [GRCh37] Chr2:74512704..75262261 [NCBI36] Chr2:2p13.1-12 |
likely benign|uncertain significance |
GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1 |
copy number loss |
See cases [RCV000143456] |
Chr2:74375779..75517520 [GRCh38] Chr2:74602906..75744646 [GRCh37] Chr2:74456414..75598154 [NCBI36] Chr2:2p13.1-12 |
likely pathogenic |
NM_032603.5(LOXL3):c.2027G>A (p.Cys676Tyr) |
single nucleotide variant |
not provided [RCV000169743] |
Chr2:74534149 [GRCh38] Chr2:74761276 [GRCh37] Chr2:2p13.1 |
uncertain significance|not provided |
NM_013247.5(HTRA2):c.1155C>T (p.Pro385=) |
single nucleotide variant |
HTRA2-related disorder [RCV003950166]|Parkinson disease 13, autosomal dominant, susceptibility to [RCV000358425]|not provided [RCV000910997] |
Chr2:74532658 [GRCh38] Chr2:74759785 [GRCh37] Chr2:2p13.1 |
likely benign|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-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_032603.5(LOXL3):c.1655T>C (p.Leu552Ser) |
single nucleotide variant |
not provided [RCV000513664] |
Chr2:74534699 [GRCh38] Chr2:74761826 [GRCh37] Chr2:2p13.1 |
uncertain significance |
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 |
copy number loss |
not provided [RCV000682167] |
Chr2:74527522..89125488 [GRCh37] Chr2:2p13.1-11.2 |
pathogenic |
Single allele |
duplication |
not provided [RCV000677942] |
Chr2:63671346..85698002 [GRCh37] Chr2:2p15-11.2 |
pathogenic |
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 |
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_032603.5(LOXL3):c.292G>A (p.Ala98Thr) |
single nucleotide variant |
not provided [RCV001998306] |
Chr2:74552343 [GRCh38] Chr2:74779470 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del) |
deletion |
LOXL3-related disorder [RCV003908074]|Stickler syndrome [RCV001199702]|not provided [RCV000762274] |
Chr2:74535672..74535674 [GRCh38] Chr2:74762799..74762801 [GRCh37] Chr2:2p13.1 |
pathogenic|likely benign|uncertain significance |
NM_032603.5(LOXL3):c.1061G>A (p.Arg354Gln) |
single nucleotide variant |
not provided [RCV000966801] |
Chr2:74536323 [GRCh38] Chr2:74763450 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.594G>C (p.Ser198=) |
single nucleotide variant |
not provided [RCV000982200] |
Chr2:74549467 [GRCh38] Chr2:74776594 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1278T>C (p.Asp426=) |
single nucleotide variant |
not provided [RCV000901895] |
Chr2:74532886 [GRCh38] Chr2:74760013 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.317G>T (p.Arg106Leu) |
single nucleotide variant |
not provided [RCV000958565] |
Chr2:74550345 [GRCh38] Chr2:74777472 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.459G>A (p.Ser153=) |
single nucleotide variant |
not provided [RCV001993056] |
Chr2:74550203 [GRCh38] Chr2:74777330 [GRCh37] Chr2:2p13.1 |
likely benign|uncertain significance |
NM_032603.5(LOXL3):c.1793G>A (p.Arg598His) |
single nucleotide variant |
not provided [RCV003106529] |
Chr2:74534561 [GRCh38] Chr2:74761688 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NC_000002.11:g.(?_71004499)_(74779761_?)del |
deletion |
Dystonic disorder [RCV003113211]|Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [RCV003113210]|not provided [RCV003107716] |
Chr2:71004499..74779761 [GRCh37] Chr2:2p13.3-13.1 |
pathogenic|no classifications from unflagged records |
NM_032603.5(LOXL3):c.17T>C (p.Val6Ala) |
single nucleotide variant |
not specified [RCV004302895] |
Chr2:74552618 [GRCh38] Chr2:74779745 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.917G>A (p.Arg306His) |
single nucleotide variant |
LOXL3-related disorder [RCV003895757]|not provided [RCV000950636] |
Chr2:74536467 [GRCh38] Chr2:74763594 [GRCh37] Chr2:2p13.1 |
benign |
NM_013247.5(HTRA2):c.1116-23T>C |
single nucleotide variant |
not provided [RCV001720824] |
Chr2:74532596 [GRCh38] Chr2:74759723 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.340T>G (p.Cys114Gly) |
single nucleotide variant |
not provided [RCV003231694] |
Chr2:74550322 [GRCh38] Chr2:74777449 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.-12-140dup |
duplication |
not provided [RCV001657678] |
Chr2:74552785..74552786 [GRCh38] Chr2:74779912..74779913 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.1113G>C (p.Leu371=) |
single nucleotide variant |
not provided [RCV001637890] |
Chr2:74536131 [GRCh38] Chr2:74763258 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.1939+21A>G |
single nucleotide variant |
not provided [RCV001638432] |
Chr2:74534295 [GRCh38] Chr2:74761422 [GRCh37] Chr2:2p13.1 |
benign |
NM_013247.5(HTRA2):c.*267C>T |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV001141102] |
Chr2:74533252 [GRCh38] Chr2:74760379 [GRCh37] Chr2:2p13.1 |
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 |
GRCh37/hg19 2p13.1-12(chr2:74780969-75444113)x3 |
copy number gain |
not provided [RCV001260151] |
Chr2:74780969..75444113 [GRCh37] Chr2:2p13.1-12 |
uncertain significance |
NM_013247.5(HTRA2):c.1224G>C (p.Arg408=) |
single nucleotide variant |
not provided [RCV001435300] |
Chr2:74532832 [GRCh38] Chr2:74759959 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1606G>C (p.Ala536Pro) |
single nucleotide variant |
not provided [RCV002001712]|not specified [RCV004935238] |
Chr2:74534748 [GRCh38] Chr2:74761875 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.692+19C>A |
single nucleotide variant |
not provided [RCV001995398] |
Chr2:74549350 [GRCh38] Chr2:74776477 [GRCh37] Chr2:2p13.1 |
likely benign|uncertain significance |
NM_013247.5(HTRA2):c.1365G>A (p.Glu455=) |
single nucleotide variant |
not provided [RCV001907995] |
Chr2:74532973 [GRCh38] Chr2:74760100 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1270G>A (p.Ala424Thr) |
single nucleotide variant |
not provided [RCV001864409] |
Chr2:74532878 [GRCh38] Chr2:74760005 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.937G>A (p.Ala313Thr) |
single nucleotide variant |
not provided [RCV002025572] |
Chr2:74536447 [GRCh38] Chr2:74763574 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1051G>A (p.Gly351Arg) |
single nucleotide variant |
not provided [RCV001950581] |
Chr2:74536333 [GRCh38] Chr2:74763460 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1549C>T (p.Arg517Cys) |
single nucleotide variant |
not provided [RCV001949879] |
Chr2:74535322 [GRCh38] Chr2:74762449 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1649A>G (p.His550Arg) |
single nucleotide variant |
not provided [RCV001949113] |
Chr2:74534705 [GRCh38] Chr2:74761832 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2126A>G (p.Asn709Ser) |
single nucleotide variant |
not provided [RCV002045018] |
Chr2:74533944 [GRCh38] Chr2:74761071 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1237G>A (p.Ala413Thr) |
single nucleotide variant |
not provided [RCV001909024] |
Chr2:74536007 [GRCh38] Chr2:74763134 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1724G>A (p.Arg575Gln) |
single nucleotide variant |
not provided [RCV002008656] |
Chr2:74534630 [GRCh38] Chr2:74761757 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.745G>A (p.Val249Met) |
single nucleotide variant |
not provided [RCV001913492] |
Chr2:74536876 [GRCh38] Chr2:74764003 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.5G>A (p.Arg2Gln) |
single nucleotide variant |
not provided [RCV002040907]|not specified [RCV004046870] |
Chr2:74552630 [GRCh38] Chr2:74779757 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1138C>T (p.Arg380Ter) |
single nucleotide variant |
3-methylglutaconic aciduria type 8 [RCV004799677]|not provided [RCV001946721] |
Chr2:74532641 [GRCh38] Chr2:74759768 [GRCh37] Chr2:2p13.1 |
pathogenic |
NM_032603.5(LOXL3):c.127C>T (p.Arg43Trp) |
single nucleotide variant |
not provided [RCV002032280]|not specified [RCV004044879] |
Chr2:74552508 [GRCh38] Chr2:74779635 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.677A>G (p.Asn226Ser) |
single nucleotide variant |
not provided [RCV002038622] |
Chr2:74549384 [GRCh38] Chr2:74776511 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1502del (p.Gln501fs) |
deletion |
not provided [RCV002004526] |
Chr2:74535369 [GRCh38] Chr2:74762496 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1036C>T (p.Arg346Trp) |
single nucleotide variant |
Myopia 28, autosomal recessive [RCV004798931]|not provided [RCV001843704] |
Chr2:74536348 [GRCh38] Chr2:74763475 [GRCh37] Chr2:2p13.1 |
likely pathogenic|uncertain significance |
NM_032603.5(LOXL3):c.395G>A (p.Ser132Asn) |
single nucleotide variant |
not provided [RCV002022482] |
Chr2:74550267 [GRCh38] Chr2:74777394 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1580C>T (p.Thr527Ile) |
single nucleotide variant |
not provided [RCV001968549] |
Chr2:74534774 [GRCh38] Chr2:74761901 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.409G>A (p.Asp137Asn) |
single nucleotide variant |
not provided [RCV002037086] |
Chr2:74550253 [GRCh38] Chr2:74777380 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.931G>T (p.Gly311Cys) |
single nucleotide variant |
not provided [RCV002042263] |
Chr2:74536453 [GRCh38] Chr2:74763580 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1598T>C (p.Leu533Pro) |
single nucleotide variant |
not provided [RCV001893265] |
Chr2:74534756 [GRCh38] Chr2:74761883 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.40C>A (p.Leu14Met) |
single nucleotide variant |
not provided [RCV002048491]|not specified [RCV004046836] |
Chr2:74552595 [GRCh38] Chr2:74779722 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1450G>A (p.Glu484Lys) |
single nucleotide variant |
not provided [RCV001872995] |
Chr2:74535421 [GRCh38] Chr2:74762548 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.394A>G (p.Ser132Gly) |
single nucleotide variant |
not provided [RCV002016579] |
Chr2:74550268 [GRCh38] Chr2:74777395 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.752C>T (p.Thr251Met) |
single nucleotide variant |
not provided [RCV001863253] |
Chr2:74536869 [GRCh38] Chr2:74763996 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.65C>G (p.Ser22Trp) |
single nucleotide variant |
not provided [RCV002025590] |
Chr2:74552570 [GRCh38] Chr2:74779697 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.824dup (p.Ala277fs) |
duplication |
Myopia 28, autosomal recessive [RCV001843705]|not provided [RCV002034719] |
Chr2:74536796..74536797 [GRCh38] Chr2:74763923..74763924 [GRCh37] Chr2:2p13.1 |
pathogenic|uncertain significance |
NM_032603.5(LOXL3):c.934G>A (p.Gly312Ser) |
single nucleotide variant |
not provided [RCV001913061] |
Chr2:74536450 [GRCh38] Chr2:74763577 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1859A>G (p.Asp620Gly) |
single nucleotide variant |
not provided [RCV002007025]|not specified [RCV004046189] |
Chr2:74534396 [GRCh38] Chr2:74761523 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1164C>A (p.His388Gln) |
single nucleotide variant |
not provided [RCV002039680] |
Chr2:74536080 [GRCh38] Chr2:74763207 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1694C>A (p.Ala565Asp) |
single nucleotide variant |
not provided [RCV001894797] |
Chr2:74534660 [GRCh38] Chr2:74761787 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.594del (p.Gln199fs) |
deletion |
Myopia 28, autosomal recessive [RCV001843703] |
Chr2:74549467 [GRCh38] Chr2:74776594 [GRCh37] Chr2:2p13.1 |
pathogenic |
NM_032603.5(LOXL3):c.39dup (p.Leu14fs) |
duplication |
Myopia 28, autosomal recessive [RCV001843702]|not provided [RCV002543279] |
Chr2:74552595..74552596 [GRCh38] Chr2:74779722..74779723 [GRCh37] Chr2:2p13.1 |
pathogenic|uncertain significance |
NM_032603.5(LOXL3):c.2170G>A (p.Val724Met) |
single nucleotide variant |
not provided [RCV001926178] |
Chr2:74533900 [GRCh38] Chr2:74761027 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.542C>T (p.Pro181Leu) |
single nucleotide variant |
LOXL3-related disorder [RCV003968648]|not provided [RCV001984933] |
Chr2:74549519 [GRCh38] Chr2:74776646 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.754del (p.Glu252fs) |
deletion |
not provided [RCV001944396] |
Chr2:74536867 [GRCh38] Chr2:74763994 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.862G>A (p.Ala288Thr) |
single nucleotide variant |
not provided [RCV002034975] |
Chr2:74536759 [GRCh38] Chr2:74763886 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1967A>C (p.Asn656Thr) |
single nucleotide variant |
not provided [RCV001944742] |
Chr2:74534209 [GRCh38] Chr2:74761336 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1276C>A (p.His426Asn) |
single nucleotide variant |
not provided [RCV001944851] |
Chr2:74535728 [GRCh38] Chr2:74762855 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2134A>C (p.Lys712Gln) |
single nucleotide variant |
not provided [RCV001994080] |
Chr2:74533936 [GRCh38] Chr2:74761063 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1294C>T (p.Arg432Ter) |
single nucleotide variant |
Parkinson disease 13, autosomal dominant, susceptibility to [RCV005023366]|not provided [RCV001905518] |
Chr2:74532902 [GRCh38] Chr2:74760029 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2045C>T (p.Thr682Met) |
single nucleotide variant |
not provided [RCV001997447] |
Chr2:74534131 [GRCh38] Chr2:74761258 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1037G>A (p.Arg346Gln) |
single nucleotide variant |
not provided [RCV001924510]|not specified [RCV004041279] |
Chr2:74536347 [GRCh38] Chr2:74763474 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1697G>A (p.Arg566His) |
single nucleotide variant |
not provided [RCV001941355] |
Chr2:74534657 [GRCh38] Chr2:74761784 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.916C>T (p.Arg306Cys) |
single nucleotide variant |
not provided [RCV001923537] |
Chr2:74536468 [GRCh38] Chr2:74763595 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1982G>C (p.Gly661Ala) |
single nucleotide variant |
not provided [RCV002015371] |
Chr2:74534194 [GRCh38] Chr2:74761321 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.936C>T (p.Gly312=) |
single nucleotide variant |
not provided [RCV002017590] |
Chr2:74536448 [GRCh38] Chr2:74763575 [GRCh37] Chr2:2p13.1 |
likely benign|uncertain significance |
NM_032603.5(LOXL3):c.310A>G (p.Thr104Ala) |
single nucleotide variant |
not provided [RCV001892949] |
Chr2:74552325 [GRCh38] Chr2:74779452 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1800_1802del (p.Trp601del) |
deletion |
not provided [RCV001920353] |
Chr2:74534552..74534554 [GRCh38] Chr2:74761679..74761681 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.172G>A (p.Val58Met) |
single nucleotide variant |
not provided [RCV001927672]|not specified [RCV004042611] |
Chr2:74552463 [GRCh38] Chr2:74779590 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1865T>C (p.Leu622Pro) |
single nucleotide variant |
not provided [RCV002010663] |
Chr2:74534390 [GRCh38] Chr2:74761517 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.128G>A (p.Arg43Gln) |
single nucleotide variant |
not provided [RCV001984831]|not specified [RCV004927764] |
Chr2:74552507 [GRCh38] Chr2:74779634 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1000C>T (p.Arg334Cys) |
single nucleotide variant |
not provided [RCV001881119] |
Chr2:74536384 [GRCh38] Chr2:74763511 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.547C>A (p.Pro183Thr) |
single nucleotide variant |
not provided [RCV001958474]|not specified [RCV004043763] |
Chr2:74549514 [GRCh38] Chr2:74776641 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1668G>A (p.Ala556=) |
single nucleotide variant |
not provided [RCV001932770] |
Chr2:74534686 [GRCh38] Chr2:74761813 [GRCh37] Chr2:2p13.1 |
likely benign|uncertain significance |
NM_032603.5(LOXL3):c.1194T>C (p.His398=) |
single nucleotide variant |
not provided [RCV001956064] |
Chr2:74536050 [GRCh38] Chr2:74763177 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.266C>T (p.Thr89Ile) |
single nucleotide variant |
not provided [RCV001908378] |
Chr2:74552369 [GRCh38] Chr2:74779496 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.790C>T (p.Arg264Cys) |
single nucleotide variant |
not provided [RCV001990352]|not specified [RCV004044566] |
Chr2:74536831 [GRCh38] Chr2:74763958 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.317G>A (p.Arg106His) |
single nucleotide variant |
LOXL3-related disorder [RCV004746488]|not provided [RCV001917462] |
Chr2:74550345 [GRCh38] Chr2:74777472 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1407C>T (p.His469=) |
single nucleotide variant |
not provided [RCV001989369] |
Chr2:74535597 [GRCh38] Chr2:74762724 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1940A>T (p.Asp647Val) |
single nucleotide variant |
not provided [RCV002046409] |
Chr2:74534236 [GRCh38] Chr2:74761363 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1472G>A (p.Arg491His) |
single nucleotide variant |
not provided [RCV001919012] |
Chr2:74535399 [GRCh38] Chr2:74762526 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.266_267del (p.Thr89fs) |
microsatellite |
not provided [RCV001923733] |
Chr2:74552368..74552369 [GRCh38] Chr2:74779495..74779496 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.404C>T (p.Thr135Met) |
single nucleotide variant |
not provided [RCV001982383]|not specified [RCV004935231] |
Chr2:74550258 [GRCh38] Chr2:74777385 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1093G>C (p.Gly365Arg) |
single nucleotide variant |
not provided [RCV001885013] |
Chr2:74536291 [GRCh38] Chr2:74763418 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1102G>A (p.Ala368Thr) |
single nucleotide variant |
not provided [RCV002010522] |
Chr2:74536142 [GRCh38] Chr2:74763269 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.379C>T (p.Arg127Trp) |
single nucleotide variant |
not provided [RCV001959585] |
Chr2:74550283 [GRCh38] Chr2:74777410 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1001G>A (p.Arg334His) |
single nucleotide variant |
not provided [RCV001981326]|not specified [RCV004935230] |
Chr2:74536383 [GRCh38] Chr2:74763510 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.896C>T (p.Ser299Leu) |
single nucleotide variant |
not provided [RCV001867650] |
Chr2:74536725 [GRCh38] Chr2:74763852 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.760C>T (p.His254Tyr) |
single nucleotide variant |
not provided [RCV001995090] |
Chr2:74536861 [GRCh38] Chr2:74763988 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.442C>T (p.Arg148Cys) |
single nucleotide variant |
not provided [RCV001911662] |
Chr2:74550220 [GRCh38] Chr2:74777347 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1229G>C (p.Gly410Ala) |
single nucleotide variant |
not provided [RCV001866663] |
Chr2:74532837 [GRCh38] Chr2:74759964 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1214G>A (p.Arg405Gln) |
single nucleotide variant |
not provided [RCV001878247] |
Chr2:74536030 [GRCh38] Chr2:74763157 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1100G>A (p.Gly367Asp) |
single nucleotide variant |
not provided [RCV001870008] |
Chr2:74536144 [GRCh38] Chr2:74763271 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1578G>C (p.Glu526Asp) |
single nucleotide variant |
not provided [RCV001881938]|not specified [RCV004039173] |
Chr2:74535293 [GRCh38] Chr2:74762420 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1015C>T (p.His339Tyr) |
single nucleotide variant |
not provided [RCV001976347] |
Chr2:74536369 [GRCh38] Chr2:74763496 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.158C>T (p.Pro53Leu) |
single nucleotide variant |
not provided [RCV001921937] |
Chr2:74552477 [GRCh38] Chr2:74779604 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.442C>A (p.Arg148Ser) |
single nucleotide variant |
not provided [RCV001915988] |
Chr2:74550220 [GRCh38] Chr2:74777347 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1285G>A (p.Glu429Lys) |
single nucleotide variant |
not provided [RCV001922186] |
Chr2:74532893 [GRCh38] Chr2:74760020 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2186T>C (p.Ile729Thr) |
single nucleotide variant |
not provided [RCV001978437]|not specified [RCV004045307] |
Chr2:74533884 [GRCh38] Chr2:74761011 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2011C>G (p.Arg671Gly) |
single nucleotide variant |
not provided [RCV001905303] |
Chr2:74534165 [GRCh38] Chr2:74761292 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1333C>T (p.Arg445Ter) |
single nucleotide variant |
not provided [RCV001884508] |
Chr2:74532941 [GRCh38] Chr2:74760068 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2107G>A (p.Glu703Lys) |
single nucleotide variant |
not provided [RCV002035046] |
Chr2:74533963 [GRCh38] Chr2:74761090 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.339C>A (p.Ser113Arg) |
single nucleotide variant |
not provided [RCV001898693] |
Chr2:74550323 [GRCh38] Chr2:74777450 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1232C>A (p.Thr411Asn) |
single nucleotide variant |
not provided [RCV001999243] |
Chr2:74536012 [GRCh38] Chr2:74763139 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1640G>A (p.Arg547Gln) |
single nucleotide variant |
not provided [RCV001939810] |
Chr2:74534714 [GRCh38] Chr2:74761841 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.588C>T (p.Gly196=) |
single nucleotide variant |
not provided [RCV001901972] |
Chr2:74549473 [GRCh38] Chr2:74776600 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1324T>A (p.Trp442Arg) |
single nucleotide variant |
not provided [RCV001957717] |
Chr2:74535680 [GRCh38] Chr2:74762807 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.501G>C (p.Glu167Asp) |
single nucleotide variant |
not provided [RCV001905468] |
Chr2:74549560 [GRCh38] Chr2:74776687 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.700G>C (p.Ala234Pro) |
single nucleotide variant |
not provided [RCV001935893] |
Chr2:74536921 [GRCh38] Chr2:74764048 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.805G>A (p.Ala269Thr) |
single nucleotide variant |
not provided [RCV001930618] |
Chr2:74536816 [GRCh38] Chr2:74763943 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.77C>G (p.Ser26Cys) |
single nucleotide variant |
not provided [RCV001988840] |
Chr2:74552558 [GRCh38] Chr2:74779685 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.314-3C>T |
single nucleotide variant |
LOXL3-related disorder [RCV003948812]|not provided [RCV001909992] |
Chr2:74550351 [GRCh38] Chr2:74777478 [GRCh37] Chr2:2p13.1 |
likely benign|uncertain significance |
NM_032603.5(LOXL3):c.586G>A (p.Gly196Ser) |
single nucleotide variant |
not provided [RCV001973557] |
Chr2:74549475 [GRCh38] Chr2:74776602 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2222T>A (p.Phe741Tyr) |
single nucleotide variant |
not provided [RCV002031189]|not specified [RCV004935249] |
Chr2:74533646 [GRCh38] Chr2:74760773 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1534A>G (p.Lys512Glu) |
single nucleotide variant |
not provided [RCV001978365] |
Chr2:74535337 [GRCh38] Chr2:74762464 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.563T>C (p.Leu188Pro) |
single nucleotide variant |
not provided [RCV001912649] |
Chr2:74549498 [GRCh38] Chr2:74776625 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.314-20C>T |
single nucleotide variant |
not provided [RCV002210413] |
Chr2:74550368 [GRCh38] Chr2:74777495 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.129G>A (p.Arg43=) |
single nucleotide variant |
LOXL3-related disorder [RCV003968821]|not provided [RCV002217334] |
Chr2:74552506 [GRCh38] Chr2:74779633 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.216T>C (p.Asp72=) |
single nucleotide variant |
not provided [RCV002111637] |
Chr2:74552419 [GRCh38] Chr2:74779546 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.897G>A (p.Ser299=) |
single nucleotide variant |
not provided [RCV002088208] |
Chr2:74536724 [GRCh38] Chr2:74763851 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.314-20C>G |
single nucleotide variant |
not provided [RCV002146282] |
Chr2:74550368 [GRCh38] Chr2:74777495 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1077C>T (p.Gly359=) |
single nucleotide variant |
not provided [RCV002210388] |
Chr2:74536307 [GRCh38] Chr2:74763434 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1632C>T (p.Ile544=) |
single nucleotide variant |
LOXL3-related disorder [RCV003913683]|not provided [RCV002107841] |
Chr2:74534722 [GRCh38] Chr2:74761849 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.684C>T (p.Ala228=) |
single nucleotide variant |
LOXL3-related disorder [RCV003968782]|not provided [RCV002211599] |
Chr2:74549377 [GRCh38] Chr2:74776504 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1212-4A>G |
single nucleotide variant |
not provided [RCV002146809] |
Chr2:74532816 [GRCh38] Chr2:74759943 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.126T>C (p.Leu42=) |
single nucleotide variant |
not provided [RCV002219719] |
Chr2:74552509 [GRCh38] Chr2:74779636 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1211+11G>C |
single nucleotide variant |
not provided [RCV002168624] |
Chr2:74532725 [GRCh38] Chr2:74759852 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.111C>T (p.Ala37=) |
single nucleotide variant |
not provided [RCV002123419] |
Chr2:74552524 [GRCh38] Chr2:74779651 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.477+17C>T |
single nucleotide variant |
not provided [RCV002124482] |
Chr2:74550168 [GRCh38] Chr2:74777295 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.313+18C>T |
single nucleotide variant |
not provided [RCV002128172] |
Chr2:74552304 [GRCh38] Chr2:74779431 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.171C>T (p.Arg57=) |
single nucleotide variant |
not provided [RCV002079792] |
Chr2:74552464 [GRCh38] Chr2:74779591 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.87T>G (p.Pro29=) |
single nucleotide variant |
not provided [RCV002104406] |
Chr2:74552548 [GRCh38] Chr2:74779675 [GRCh37] Chr2:2p13.1 |
benign|likely benign |
NM_032603.5(LOXL3):c.1221C>A (p.Asn407Lys) |
single nucleotide variant |
not provided [RCV002185812] |
Chr2:74536023 [GRCh38] Chr2:74763150 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.405G>A (p.Thr135=) |
single nucleotide variant |
LOXL3-related disorder [RCV003923794]|not provided [RCV002141425] |
Chr2:74550257 [GRCh38] Chr2:74777384 [GRCh37] Chr2:2p13.1 |
benign|likely benign |
NM_032603.5(LOXL3):c.693-15C>A |
single nucleotide variant |
not provided [RCV002125954] |
Chr2:74536943 [GRCh38] Chr2:74764070 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1823+8G>A |
single nucleotide variant |
not provided [RCV002107892] |
Chr2:74534523 [GRCh38] Chr2:74761650 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1609C>T (p.Leu537=) |
single nucleotide variant |
not provided [RCV002093291] |
Chr2:74534745 [GRCh38] Chr2:74761872 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.741G>A (p.Ala247=) |
single nucleotide variant |
LOXL3-related disorder [RCV003950880]|not provided [RCV002172434] |
Chr2:74536880 [GRCh38] Chr2:74764007 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.57G>A (p.Leu19=) |
single nucleotide variant |
not provided [RCV002201987] |
Chr2:74552578 [GRCh38] Chr2:74779705 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.819G>A (p.Gly273=) |
single nucleotide variant |
not provided [RCV002216063] |
Chr2:74536802 [GRCh38] Chr2:74763929 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.579T>C (p.Leu193=) |
single nucleotide variant |
LOXL3-related disorder [RCV003950869]|not provided [RCV002092710] |
Chr2:74549482 [GRCh38] Chr2:74776609 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1120G>C (p.Val374Leu) |
single nucleotide variant |
not provided [RCV002112329] |
Chr2:74536124 [GRCh38] Chr2:74763251 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1260T>C (p.Ser420=) |
single nucleotide variant |
not provided [RCV002152838] |
Chr2:74535744 [GRCh38] Chr2:74762871 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.706C>T (p.Arg236Trp) |
single nucleotide variant |
not provided [RCV002165344] |
Chr2:74536915 [GRCh38] Chr2:74764042 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1026C>T (p.Ser342=) |
single nucleotide variant |
not provided [RCV002207495] |
Chr2:74536358 [GRCh38] Chr2:74763485 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1579+15G>T |
single nucleotide variant |
not provided [RCV002172866] |
Chr2:74535277 [GRCh38] Chr2:74762404 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1299A>G (p.Gln433=) |
single nucleotide variant |
not provided [RCV002104580] |
Chr2:74535705 [GRCh38] Chr2:74762832 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.687C>T (p.Phe229=) |
single nucleotide variant |
not provided [RCV002076333] |
Chr2:74549374 [GRCh38] Chr2:74776501 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1929G>A (p.Glu643=) |
single nucleotide variant |
not provided [RCV002128240] |
Chr2:74534326 [GRCh38] Chr2:74761453 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1791G>T (p.Gly597=) |
single nucleotide variant |
not provided [RCV002093663] |
Chr2:74534563 [GRCh38] Chr2:74761690 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1206C>T (p.Ala402=) |
single nucleotide variant |
not provided [RCV002113726] |
Chr2:74536038 [GRCh38] Chr2:74763165 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.81G>A (p.Pro27=) |
single nucleotide variant |
not provided [RCV002141413] |
Chr2:74552554 [GRCh38] Chr2:74779681 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2064C>T (p.Asn688=) |
single nucleotide variant |
not provided [RCV002119303] |
Chr2:74534112 [GRCh38] Chr2:74761239 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.1094-19C>T |
single nucleotide variant |
not provided [RCV002202225] |
Chr2:74536169 [GRCh38] Chr2:74763296 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.693-11T>C |
single nucleotide variant |
not provided [RCV002200785] |
Chr2:74536939 [GRCh38] Chr2:74764066 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1123C>T (p.Arg375Cys) |
single nucleotide variant |
not provided [RCV002218604] |
Chr2:74536121 [GRCh38] Chr2:74763248 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.1812C>T (p.His604=) |
single nucleotide variant |
not provided [RCV002141174] |
Chr2:74534542 [GRCh38] Chr2:74761669 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1209G>A (p.Gly403=) |
single nucleotide variant |
not provided [RCV002081490] |
Chr2:74536035 [GRCh38] Chr2:74763162 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1212-15C>A |
single nucleotide variant |
not provided [RCV002121711] |
Chr2:74532805 [GRCh38] Chr2:74759932 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1542A>G (p.Thr514=) |
single nucleotide variant |
not provided [RCV002202072] |
Chr2:74535329 [GRCh38] Chr2:74762456 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2188+15G>A |
single nucleotide variant |
not provided [RCV002139871] |
Chr2:74533867 [GRCh38] Chr2:74760994 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1602C>T (p.His534=) |
single nucleotide variant |
not provided [RCV002139873] |
Chr2:74534752 [GRCh38] Chr2:74761879 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1940-10A>G |
single nucleotide variant |
not provided [RCV002100867] |
Chr2:74534246 [GRCh38] Chr2:74761373 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2077-17C>G |
single nucleotide variant |
not provided [RCV002178505] |
Chr2:74534010 [GRCh38] Chr2:74761137 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1212-17T>C |
single nucleotide variant |
not provided [RCV002135786] |
Chr2:74532803 [GRCh38] Chr2:74759930 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1579+14G>C |
single nucleotide variant |
not provided [RCV002142747] |
Chr2:74535278 [GRCh38] Chr2:74762405 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1579+15G>A |
single nucleotide variant |
not provided [RCV002142750] |
Chr2:74535277 [GRCh38] Chr2:74762404 [GRCh37] Chr2:2p13.1 |
likely benign |
NC_000002.11:g.(?_72359356)_(74779761_?)del |
deletion |
MOGS-congenital disorder of glycosylation [RCV003109485]|not provided [RCV003116543] |
Chr2:72359356..74779761 [GRCh37] Chr2:2p13.2-13.1 |
pathogenic|no classifications from unflagged records |
NM_032603.5(LOXL3):c.1582G>A (p.Ala528Thr) |
single nucleotide variant |
not specified [RCV004936420] |
Chr2:74534772 [GRCh38] Chr2:74761899 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1334G>A (p.Arg445Gln) |
single nucleotide variant |
not provided [RCV003116018] |
Chr2:74532942 [GRCh38] Chr2:74760069 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NC_000002.11:g.(?_69240632)_(74779761_?)dup |
duplication |
not provided [RCV003122858] |
Chr2:69240632..74779761 [GRCh37] Chr2:2p13.3-13.1 |
uncertain significance |
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13 |
pathogenic |
NM_013247.5(HTRA2):c.1366G>A (p.Val456Ile) |
single nucleotide variant |
not provided [RCV002265393] |
Chr2:74532974 [GRCh38] Chr2:74760101 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1267C>T (p.Arg423Cys) |
single nucleotide variant |
not provided [RCV002291892]|not specified [RCV004047611] |
Chr2:74535737 [GRCh38] Chr2:74762864 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.923G>C (p.Arg308Pro) |
single nucleotide variant |
not provided [RCV002297728] |
Chr2:74536461 [GRCh38] Chr2:74763588 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.308G>A (p.Gly103Glu) |
single nucleotide variant |
not provided [RCV002469591] |
Chr2:74552327 [GRCh38] Chr2:74779454 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1001G>T (p.Arg334Leu) |
single nucleotide variant |
not provided [RCV002304359] |
Chr2:74536383 [GRCh38] Chr2:74763510 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1156T>G (p.Cys386Gly) |
single nucleotide variant |
not provided [RCV002304801] |
Chr2:74536088 [GRCh38] Chr2:74763215 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1662T>G (p.Cys554Trp) |
single nucleotide variant |
not provided [RCV002296005] |
Chr2:74534692 [GRCh38] Chr2:74761819 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1290C>T (p.Val430=) |
single nucleotide variant |
not provided [RCV002726935] |
Chr2:74535714 [GRCh38] Chr2:74762841 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1358T>C (p.Leu453Pro) |
single nucleotide variant |
not specified [RCV004169481] |
Chr2:74535646 [GRCh38] Chr2:74762773 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.449delinsAA (p.Pro150fs) |
indel |
Myopia 28, autosomal recessive [RCV004798952] |
Chr2:74550213 [GRCh38] Chr2:74777340 [GRCh37] Chr2:2p13.1 |
pathogenic |
NM_032603.5(LOXL3):c.1838_1839dup (p.Asp614fs) |
duplication |
not provided [RCV002731331] |
Chr2:74534415..74534416 [GRCh38] Chr2:74761542..74761543 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.351C>T (p.Thr117=) |
single nucleotide variant |
not provided [RCV002971680] |
Chr2:74550311 [GRCh38] Chr2:74777438 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1211+12G>T |
single nucleotide variant |
not provided [RCV003016728] |
Chr2:74532726 [GRCh38] Chr2:74759853 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1701A>C (p.Ser567=) |
single nucleotide variant |
not provided [RCV003098984] |
Chr2:74534653 [GRCh38] Chr2:74761780 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1736G>A (p.Arg579Gln) |
single nucleotide variant |
not provided [RCV002948089] |
Chr2:74534618 [GRCh38] Chr2:74761745 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2251C>A (p.Gln751Lys) |
single nucleotide variant |
not specified [RCV004230156] |
Chr2:74533617 [GRCh38] Chr2:74760744 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1809G>A (p.Trp603Ter) |
single nucleotide variant |
not provided [RCV002843299] |
Chr2:74534545 [GRCh38] Chr2:74761672 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1478C>G (p.Thr493Arg) |
single nucleotide variant |
not provided [RCV002618564] |
Chr2:74535393 [GRCh38] Chr2:74762520 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1318C>T (p.Leu440Phe) |
single nucleotide variant |
not specified [RCV004098228] |
Chr2:74535686 [GRCh38] Chr2:74762813 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.219C>G (p.Asp73Glu) |
single nucleotide variant |
not provided [RCV002996563] |
Chr2:74552416 [GRCh38] Chr2:74779543 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.40C>T (p.Leu14=) |
single nucleotide variant |
not provided [RCV002819512] |
Chr2:74552595 [GRCh38] Chr2:74779722 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2076+8G>A |
single nucleotide variant |
not provided [RCV002750659] |
Chr2:74534092 [GRCh38] Chr2:74761219 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.9T>C (p.Pro3=) |
single nucleotide variant |
not provided [RCV002839013] |
Chr2:74552626 [GRCh38] Chr2:74779753 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.956G>A (p.Arg319Gln) |
single nucleotide variant |
not provided [RCV002616719] |
Chr2:74536428 [GRCh38] Chr2:74763555 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.788A>G (p.Tyr263Cys) |
single nucleotide variant |
not specified [RCV004188468] |
Chr2:74536833 [GRCh38] Chr2:74763960 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.467A>G (p.Asn156Ser) |
single nucleotide variant |
not provided [RCV002755082] |
Chr2:74550195 [GRCh38] Chr2:74777322 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.477+14A>G |
single nucleotide variant |
not provided [RCV002903257] |
Chr2:74550171 [GRCh38] Chr2:74777298 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter) |
single nucleotide variant |
not provided [RCV002843054] |
Chr2:74532926 [GRCh38] Chr2:74760053 [GRCh37] Chr2:2p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032603.5(LOXL3):c.1153A>C (p.Lys385Gln) |
single nucleotide variant |
not provided [RCV002819633] |
Chr2:74536091 [GRCh38] Chr2:74763218 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1939+4A>C |
single nucleotide variant |
not provided [RCV003016163] |
Chr2:74534312 [GRCh38] Chr2:74761439 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1564G>A (p.Val522Ile) |
single nucleotide variant |
not specified [RCV004242785] |
Chr2:74535307 [GRCh38] Chr2:74762434 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.373G>A (p.Ala125Thr) |
single nucleotide variant |
not provided [RCV002843159] |
Chr2:74550289 [GRCh38] Chr2:74777416 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1951C>T (p.Arg651Trp) |
single nucleotide variant |
not provided [RCV002686161] |
Chr2:74534225 [GRCh38] Chr2:74761352 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.957G>C (p.Arg319=) |
single nucleotide variant |
not provided [RCV002593378] |
Chr2:74536427 [GRCh38] Chr2:74763554 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1152G>T (p.Trp384Cys) |
single nucleotide variant |
not provided [RCV003021753] |
Chr2:74536092 [GRCh38] Chr2:74763219 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.680C>T (p.Ala227Val) |
single nucleotide variant |
not provided [RCV002662824] |
Chr2:74549381 [GRCh38] Chr2:74776508 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.313+15A>C |
single nucleotide variant |
not provided [RCV002622712] |
Chr2:74552307 [GRCh38] Chr2:74779434 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.300T>C (p.Tyr100=) |
single nucleotide variant |
not provided [RCV002658562] |
Chr2:74552335 [GRCh38] Chr2:74779462 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1880C>G (p.Thr627Ser) |
single nucleotide variant |
not provided [RCV003036180] |
Chr2:74534375 [GRCh38] Chr2:74761502 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1893G>A (p.Glu631=) |
single nucleotide variant |
not provided [RCV003035750] |
Chr2:74534362 [GRCh38] Chr2:74761489 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2120C>T (p.Thr707Ile) |
single nucleotide variant |
not provided [RCV002691196]|not specified [RCV004935273] |
Chr2:74533950 [GRCh38] Chr2:74761077 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1245C>T (p.Thr415=) |
single nucleotide variant |
not provided [RCV002591227] |
Chr2:74535999 [GRCh38] Chr2:74763126 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1567A>G (p.Ile523Val) |
single nucleotide variant |
not provided [RCV002843949] |
Chr2:74535304 [GRCh38] Chr2:74762431 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.923G>A (p.Arg308His) |
single nucleotide variant |
not provided [RCV002780256]|not specified [RCV004935276] |
Chr2:74536461 [GRCh38] Chr2:74763588 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.211G>A (p.Asp71Asn) |
single nucleotide variant |
not provided [RCV003018877] |
Chr2:74552424 [GRCh38] Chr2:74779551 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.913-11C>G |
single nucleotide variant |
not provided [RCV003035717] |
Chr2:74536482 [GRCh38] Chr2:74763609 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1952G>A (p.Arg651Gln) |
single nucleotide variant |
not provided [RCV002976144] |
Chr2:74534224 [GRCh38] Chr2:74761351 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.860A>G (p.Tyr287Cys) |
single nucleotide variant |
not provided [RCV003036692] |
Chr2:74536761 [GRCh38] Chr2:74763888 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1414C>G (p.Gln472Glu) |
single nucleotide variant |
not provided [RCV002796846]|not specified [RCV004064878] |
Chr2:74535590 [GRCh38] Chr2:74762717 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2188+12del |
deletion |
not provided [RCV002736847] |
Chr2:74533870 [GRCh38] Chr2:74760997 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1158C>A (p.Cys386Ter) |
single nucleotide variant |
not provided [RCV002867914] |
Chr2:74536086 [GRCh38] Chr2:74763213 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2152G>A (p.Asp718Asn) |
single nucleotide variant |
not specified [RCV004143582] |
Chr2:74533918 [GRCh38] Chr2:74761045 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1813G>A (p.Glu605Lys) |
single nucleotide variant |
not provided [RCV002785440] |
Chr2:74534541 [GRCh38] Chr2:74761668 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1294G>A (p.Val432Met) |
single nucleotide variant |
not provided [RCV002622654] |
Chr2:74535710 [GRCh38] Chr2:74762837 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1116-19G>A |
single nucleotide variant |
not provided [RCV002570099] |
Chr2:74532600 [GRCh38] Chr2:74759727 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2188+1G>A |
single nucleotide variant |
not provided [RCV002913343] |
Chr2:74533881 [GRCh38] Chr2:74761008 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.712C>G (p.Gln238Glu) |
single nucleotide variant |
not specified [RCV004125087] |
Chr2:74536909 [GRCh38] Chr2:74764036 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.711G>T (p.Gln237His) |
single nucleotide variant |
not specified [RCV004125086] |
Chr2:74536910 [GRCh38] Chr2:74764037 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1824-18G>C |
single nucleotide variant |
not provided [RCV003021243] |
Chr2:74534449 [GRCh38] Chr2:74761576 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.533G>T (p.Gly178Val) |
single nucleotide variant |
not specified [RCV004109331] |
Chr2:74549528 [GRCh38] Chr2:74776655 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1765C>T (p.Arg589Ter) |
single nucleotide variant |
not provided [RCV002621466] |
Chr2:74534589 [GRCh38] Chr2:74761716 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1949A>C (p.Lys650Thr) |
single nucleotide variant |
not provided [RCV002918772] |
Chr2:74534227 [GRCh38] Chr2:74761354 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.912+7G>A |
single nucleotide variant |
not provided [RCV002786401] |
Chr2:74536702 [GRCh38] Chr2:74763829 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1183A>T (p.Lys395Ter) |
single nucleotide variant |
not provided [RCV002643481] |
Chr2:74532686 [GRCh38] Chr2:74759813 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.405G>C (p.Thr135=) |
single nucleotide variant |
not provided [RCV003007170] |
Chr2:74550257 [GRCh38] Chr2:74777384 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.507G>C (p.Val169=) |
single nucleotide variant |
not provided [RCV002958461] |
Chr2:74549554 [GRCh38] Chr2:74776681 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1646T>C (p.Leu549Pro) |
single nucleotide variant |
not provided [RCV003082667] |
Chr2:74534708 [GRCh38] Chr2:74761835 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1258A>G (p.Met420Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004983085]|not provided [RCV002700257] |
Chr2:74532866 [GRCh38] Chr2:74759993 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.753G>A (p.Thr251=) |
single nucleotide variant |
not provided [RCV002957448] |
Chr2:74536868 [GRCh38] Chr2:74763995 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.711G>A (p.Gln237=) |
single nucleotide variant |
not provided [RCV002852072] |
Chr2:74536910 [GRCh38] Chr2:74764037 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2076+15G>A |
single nucleotide variant |
not provided [RCV002741013] |
Chr2:74534085 [GRCh38] Chr2:74761212 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1827T>C (p.His609=) |
single nucleotide variant |
not provided [RCV002894994] |
Chr2:74534428 [GRCh38] Chr2:74761555 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.169C>T (p.Arg57Cys) |
single nucleotide variant |
not provided [RCV002627213] |
Chr2:74552466 [GRCh38] Chr2:74779593 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.797A>G (p.Asn266Ser) |
single nucleotide variant |
not provided [RCV003085659]|not specified [RCV004071749] |
Chr2:74536824 [GRCh38] Chr2:74763951 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1584A>C (p.Ala528=) |
single nucleotide variant |
not provided [RCV002667324] |
Chr2:74534770 [GRCh38] Chr2:74761897 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.523G>A (p.Val175Ile) |
single nucleotide variant |
not provided [RCV003057243] |
Chr2:74549538 [GRCh38] Chr2:74776665 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.133C>A (p.Arg45=) |
single nucleotide variant |
not provided [RCV002643312] |
Chr2:74552502 [GRCh38] Chr2:74779629 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1848C>T (p.Phe616=) |
single nucleotide variant |
not provided [RCV002699982] |
Chr2:74534407 [GRCh38] Chr2:74761534 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.94G>A (p.Gly32Ser) |
single nucleotide variant |
not provided [RCV002700194]|not specified [RCV004935272] |
Chr2:74552541 [GRCh38] Chr2:74779668 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.443G>A (p.Arg148His) |
single nucleotide variant |
not provided [RCV003082309] |
Chr2:74550219 [GRCh38] Chr2:74777346 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2076+16G>A |
single nucleotide variant |
not provided [RCV002786655] |
Chr2:74534084 [GRCh38] Chr2:74761211 [GRCh37] Chr2:2p13.1 |
benign |
NM_032603.5(LOXL3):c.154A>G (p.Lys52Glu) |
single nucleotide variant |
not provided [RCV002801346] |
Chr2:74552481 [GRCh38] Chr2:74779608 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1076G>A (p.Gly359Asp) |
single nucleotide variant |
not specified [RCV004162114] |
Chr2:74536308 [GRCh38] Chr2:74763435 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1158T>C (p.Asp386=) |
single nucleotide variant |
not provided [RCV002667776] |
Chr2:74532661 [GRCh38] Chr2:74759788 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1408G>A (p.Gly470Ser) |
single nucleotide variant |
not specified [RCV004117778] |
Chr2:74535596 [GRCh38] Chr2:74762723 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1513C>G (p.His505Asp) |
single nucleotide variant |
not provided [RCV002595436] |
Chr2:74535358 [GRCh38] Chr2:74762485 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.549C>T (p.Pro183=) |
single nucleotide variant |
not provided [RCV002667633] |
Chr2:74549512 [GRCh38] Chr2:74776639 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.561G>A (p.Gly187=) |
single nucleotide variant |
not provided [RCV002876328] |
Chr2:74549500 [GRCh38] Chr2:74776627 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.278G>C (p.Gly93Ala) |
single nucleotide variant |
not provided [RCV003082310] |
Chr2:74552357 [GRCh38] Chr2:74779484 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.161A>G (p.Tyr54Cys) |
single nucleotide variant |
not provided [RCV002791100] |
Chr2:74552474 [GRCh38] Chr2:74779601 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1877G>A (p.Gly626Asp) |
single nucleotide variant |
not specified [RCV004149713] |
Chr2:74534378 [GRCh38] Chr2:74761505 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.912+16A>T |
single nucleotide variant |
not provided [RCV002572716] |
Chr2:74536693 [GRCh38] Chr2:74763820 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.892C>T (p.Gln298Ter) |
single nucleotide variant |
not provided [RCV002825717] |
Chr2:74536729 [GRCh38] Chr2:74763856 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.313+3G>T |
single nucleotide variant |
not provided [RCV002853110] |
Chr2:74552319 [GRCh38] Chr2:74779446 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.508C>T (p.Arg170Ter) |
single nucleotide variant |
not provided [RCV002801909] |
Chr2:74549553 [GRCh38] Chr2:74776680 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.913-4A>G |
single nucleotide variant |
not provided [RCV002626072] |
Chr2:74536475 [GRCh38] Chr2:74763602 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2223T>A (p.Phe741Leu) |
single nucleotide variant |
not provided [RCV002890827] |
Chr2:74533645 [GRCh38] Chr2:74760772 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.691A>T (p.Arg231Trp) |
single nucleotide variant |
not provided [RCV002710534] |
Chr2:74549370 [GRCh38] Chr2:74776497 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.926T>C (p.Leu309Pro) |
single nucleotide variant |
not provided [RCV003024429] |
Chr2:74536458 [GRCh38] Chr2:74763585 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1156G>A (p.Asp386Asn) |
single nucleotide variant |
not provided [RCV002805322] |
Chr2:74532659 [GRCh38] Chr2:74759786 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.117C>T (p.Ser39=) |
single nucleotide variant |
not provided [RCV002966909] |
Chr2:74552518 [GRCh38] Chr2:74779645 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1094-11T>C |
single nucleotide variant |
not provided [RCV003043989] |
Chr2:74536161 [GRCh38] Chr2:74763288 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1243G>A (p.Ala415Thr) |
single nucleotide variant |
not provided [RCV002632422] |
Chr2:74532851 [GRCh38] Chr2:74759978 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.591_596del (p.Trp197_Gln199delinsTer) |
deletion |
not provided [RCV002810801] |
Chr2:74549465..74549470 [GRCh38] Chr2:74776592..74776597 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1940-8C>A |
single nucleotide variant |
not provided [RCV002900348] |
Chr2:74534244 [GRCh38] Chr2:74761371 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.527G>A (p.Gly176Glu) |
single nucleotide variant |
LOXL3-related disorder [RCV003963508]|not provided [RCV002959132] |
Chr2:74549534 [GRCh38] Chr2:74776661 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1894G>A (p.Gly632Ser) |
single nucleotide variant |
not provided [RCV002811086] |
Chr2:74534361 [GRCh38] Chr2:74761488 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.66G>A (p.Ser22=) |
single nucleotide variant |
not provided [RCV003065126] |
Chr2:74552569 [GRCh38] Chr2:74779696 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.804C>T (p.Thr268=) |
single nucleotide variant |
not provided [RCV002676272] |
Chr2:74536817 [GRCh38] Chr2:74763944 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.409G>C (p.Asp137His) |
single nucleotide variant |
not provided [RCV002939076] |
Chr2:74550253 [GRCh38] Chr2:74777380 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1271G>A (p.Ser424Asn) |
single nucleotide variant |
not provided [RCV002675868] |
Chr2:74535733 [GRCh38] Chr2:74762860 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.111C>A (p.Ala37=) |
single nucleotide variant |
not provided [RCV002962747] |
Chr2:74552524 [GRCh38] Chr2:74779651 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.561G>T (p.Gly187=) |
single nucleotide variant |
not provided [RCV002671053] |
Chr2:74549500 [GRCh38] Chr2:74776627 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1939+7T>C |
single nucleotide variant |
not provided [RCV002599300] |
Chr2:74534309 [GRCh38] Chr2:74761436 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1824-14C>T |
single nucleotide variant |
not provided [RCV003043929] |
Chr2:74534445 [GRCh38] Chr2:74761572 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2050G>A (p.Val684Met) |
single nucleotide variant |
not provided [RCV003046939] |
Chr2:74534126 [GRCh38] Chr2:74761253 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1552T>A (p.Phe518Ile) |
single nucleotide variant |
not provided [RCV002630249] |
Chr2:74535319 [GRCh38] Chr2:74762446 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1521C>T (p.Thr507=) |
single nucleotide variant |
not provided [RCV002651074] |
Chr2:74535350 [GRCh38] Chr2:74762477 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2112T>C (p.Ser704=) |
single nucleotide variant |
not provided [RCV003047083] |
Chr2:74533958 [GRCh38] Chr2:74761085 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1244C>G (p.Thr415Ser) |
single nucleotide variant |
not provided [RCV002938786] |
Chr2:74536000 [GRCh38] Chr2:74763127 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.123G>A (p.Gly41=) |
single nucleotide variant |
not provided [RCV002770263] |
Chr2:74552512 [GRCh38] Chr2:74779639 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1715A>G (p.Tyr572Cys) |
single nucleotide variant |
not provided [RCV002717266] |
Chr2:74534639 [GRCh38] Chr2:74761766 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1881C>A (p.Thr627=) |
single nucleotide variant |
not provided [RCV003090326] |
Chr2:74534374 [GRCh38] Chr2:74761501 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1283G>T (p.Gly428Val) |
single nucleotide variant |
not provided [RCV002810294] |
Chr2:74535721 [GRCh38] Chr2:74762848 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.593C>A (p.Ser198Ter) |
single nucleotide variant |
not provided [RCV002716129] |
Chr2:74549468 [GRCh38] Chr2:74776595 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1502A>C (p.Gln501Pro) |
single nucleotide variant |
not specified [RCV004116155] |
Chr2:74535369 [GRCh38] Chr2:74762496 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1215G>C (p.Arg405=) |
single nucleotide variant |
not provided [RCV002857299] |
Chr2:74536029 [GRCh38] Chr2:74763156 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1417-18A>G |
single nucleotide variant |
not provided [RCV002676018] |
Chr2:74535472 [GRCh38] Chr2:74762599 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.160T>C (p.Tyr54His) |
single nucleotide variant |
not provided [RCV003091693]|not specified [RCV004927881] |
Chr2:74552475 [GRCh38] Chr2:74779602 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1077C>G (p.Gly359=) |
single nucleotide variant |
not provided [RCV002600249] |
Chr2:74536307 [GRCh38] Chr2:74763434 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.555G>A (p.Thr185=) |
single nucleotide variant |
not provided [RCV002577565] |
Chr2:74549506 [GRCh38] Chr2:74776633 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.170G>A (p.Arg57His) |
single nucleotide variant |
not provided [RCV002670790] |
Chr2:74552465 [GRCh38] Chr2:74779592 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2002G>A (p.Asp668Asn) |
single nucleotide variant |
not specified [RCV004175471] |
Chr2:74534174 [GRCh38] Chr2:74761301 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.116G>T (p.Ser39Ile) |
single nucleotide variant |
not provided [RCV002597900] |
Chr2:74552519 [GRCh38] Chr2:74779646 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.316C>T (p.Arg106Cys) |
single nucleotide variant |
not provided [RCV002634998] |
Chr2:74550346 [GRCh38] Chr2:74777473 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1355C>T (p.Thr452Ile) |
single nucleotide variant |
not provided [RCV002605300] |
Chr2:74535649 [GRCh38] Chr2:74762776 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1383A>T (p.Gln461His) |
single nucleotide variant |
not provided [RCV002725728] |
Chr2:74535621 [GRCh38] Chr2:74762748 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1643C>A (p.Pro548His) |
single nucleotide variant |
not provided [RCV002657960] |
Chr2:74534711 [GRCh38] Chr2:74761838 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.634G>A (p.Val212Met) |
single nucleotide variant |
not provided [RCV002603763] |
Chr2:74549427 [GRCh38] Chr2:74776554 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.912G>A (p.Glu304=) |
single nucleotide variant |
not provided [RCV002583043] |
Chr2:74536709 [GRCh38] Chr2:74763836 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1417-12A>C |
single nucleotide variant |
not provided [RCV002605812] |
Chr2:74535466 [GRCh38] Chr2:74762593 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1416+13G>A |
single nucleotide variant |
not provided [RCV002610053] |
Chr2:74535575 [GRCh38] Chr2:74762702 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1162C>A (p.His388Asn) |
single nucleotide variant |
not provided [RCV002634494]|not specified [RCV004065788] |
Chr2:74536082 [GRCh38] Chr2:74763209 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1550G>A (p.Arg517His) |
single nucleotide variant |
not provided [RCV003072225] |
Chr2:74535321 [GRCh38] Chr2:74762448 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2259C>G (p.Ile753Met) |
single nucleotide variant |
not provided [RCV002583390] |
Chr2:74533609 [GRCh38] Chr2:74760736 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1116-10G>A |
single nucleotide variant |
not provided [RCV002657879] |
Chr2:74532609 [GRCh38] Chr2:74759736 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2076+11T>A |
single nucleotide variant |
not provided [RCV002589084] |
Chr2:74534089 [GRCh38] Chr2:74761216 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.863C>T (p.Ala288Val) |
single nucleotide variant |
not provided [RCV002654591]|not specified [RCV004072018] |
Chr2:74536758 [GRCh38] Chr2:74763885 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1806G>A (p.Val602=) |
single nucleotide variant |
not provided [RCV002584100] |
Chr2:74534548 [GRCh38] Chr2:74761675 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1727G>A (p.Arg576His) |
single nucleotide variant |
not specified [RCV004936418] |
Chr2:74534627 [GRCh38] Chr2:74761754 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1844T>C (p.Ile615Thr) |
single nucleotide variant |
not provided [RCV002608173] |
Chr2:74534411 [GRCh38] Chr2:74761538 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.142_145dup (p.Phe49fs) |
microsatellite |
not provided [RCV002589756] |
Chr2:74552489..74552490 [GRCh38] Chr2:74779616..74779617 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.251G>A (p.Arg84Gln) |
single nucleotide variant |
not provided [RCV002633267] |
Chr2:74552384 [GRCh38] Chr2:74779511 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1830C>T (p.Tyr610=) |
single nucleotide variant |
not provided [RCV002653907] |
Chr2:74534425 [GRCh38] Chr2:74761552 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.134G>A (p.Arg45Gln) |
single nucleotide variant |
not provided [RCV003071139] |
Chr2:74552501 [GRCh38] Chr2:74779628 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1760T>A (p.Leu587Gln) |
single nucleotide variant |
LOXL3-related disorder [RCV003393217] |
Chr2:74534594 [GRCh38] Chr2:74761721 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1781C>A (p.Pro594His) |
single nucleotide variant |
not provided [RCV003159418] |
Chr2:74534573 [GRCh38] Chr2:74761700 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.100G>A (p.Glu34Lys) |
single nucleotide variant |
not specified [RCV004278489] |
Chr2:74552535 [GRCh38] Chr2:74779662 [GRCh37] Chr2:2p13.1 |
uncertain significance |
GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1 |
copy number loss |
not provided [RCV003223078] |
Chr2:73716761..75347894 [GRCh37] Chr2:2p13.1-12 |
uncertain significance |
NM_032603.5(LOXL3):c.2021T>C (p.Ile674Thr) |
single nucleotide variant |
not specified [RCV004264622] |
Chr2:74534155 [GRCh38] Chr2:74761282 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1976A>G (p.Glu659Gly) |
single nucleotide variant |
not specified [RCV004350999] |
Chr2:74534200 [GRCh38] Chr2:74761327 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.258G>A (p.Leu86=) |
single nucleotide variant |
not provided [RCV003675667] |
Chr2:74552377 [GRCh38] Chr2:74779504 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.162C>T (p.Tyr54=) |
single nucleotide variant |
not provided [RCV003728814] |
Chr2:74552473 [GRCh38] Chr2:74779600 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.75G>A (p.Gly25=) |
single nucleotide variant |
not provided [RCV003717687] |
Chr2:74552560 [GRCh38] Chr2:74779687 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.483G>A (p.Glu161=) |
single nucleotide variant |
not provided [RCV003701050] |
Chr2:74549578 [GRCh38] Chr2:74776705 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.39G>A (p.Gly13=) |
single nucleotide variant |
not provided [RCV003734810] |
Chr2:74552596 [GRCh38] Chr2:74779723 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.594G>T (p.Ser198=) |
single nucleotide variant |
not provided [RCV003663912] |
Chr2:74549467 [GRCh38] Chr2:74776594 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1957G>A (p.Glu653Lys) |
single nucleotide variant |
not provided [RCV003874434] |
Chr2:74534219 [GRCh38] Chr2:74761346 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.201C>T (p.Gly67=) |
single nucleotide variant |
not provided [RCV003690243] |
Chr2:74552434 [GRCh38] Chr2:74779561 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.481G>C (p.Glu161Gln) |
single nucleotide variant |
not provided [RCV003683760] |
Chr2:74549580 [GRCh38] Chr2:74776707 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2223T>C (p.Phe741=) |
single nucleotide variant |
not provided [RCV003571181] |
Chr2:74533645 [GRCh38] Chr2:74760772 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_001381.5(DOK1):c.17T>C (p.Met6Thr) |
single nucleotide variant |
not provided [RCV003427069]|not specified [RCV004907846] |
Chr2:74554771 [GRCh38] Chr2:74781898 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.818G>T (p.Gly273Val) |
single nucleotide variant |
LOXL3-related disorder [RCV003410392] |
Chr2:74536803 [GRCh38] Chr2:74763930 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1198C>T (p.Gln400Ter) |
single nucleotide variant |
not provided [RCV003443912] |
Chr2:74536046 [GRCh38] Chr2:74763173 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1557T>C (p.Thr519=) |
single nucleotide variant |
not provided [RCV003579248] |
Chr2:74535314 [GRCh38] Chr2:74762441 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1417-2A>G |
single nucleotide variant |
not provided [RCV003827221] |
Chr2:74535456 [GRCh38] Chr2:74762583 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1580-18C>G |
single nucleotide variant |
not provided [RCV003574175] |
Chr2:74534792 [GRCh38] Chr2:74761919 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1580-11_1580-8del |
deletion |
not provided [RCV003740224] |
Chr2:74534782..74534785 [GRCh38] Chr2:74761909..74761912 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1211+18G>T |
single nucleotide variant |
not provided [RCV003694842] |
Chr2:74532732 [GRCh38] Chr2:74759859 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.153_183del (p.Arg51fs) |
deletion |
not provided [RCV003547974] |
Chr2:74552452..74552482 [GRCh38] Chr2:74779579..74779609 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.12C>T (p.Val4=) |
single nucleotide variant |
not provided [RCV003882041] |
Chr2:74552623 [GRCh38] Chr2:74779750 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2076+17G>C |
single nucleotide variant |
not provided [RCV003694828] |
Chr2:74534083 [GRCh38] Chr2:74761210 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2109G>A (p.Glu703=) |
single nucleotide variant |
not provided [RCV003694226] |
Chr2:74533961 [GRCh38] Chr2:74761088 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.755A>G (p.Glu252Gly) |
single nucleotide variant |
not provided [RCV003576963] |
Chr2:74536866 [GRCh38] Chr2:74763993 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1692A>G (p.Ser564=) |
single nucleotide variant |
not provided [RCV003578457] |
Chr2:74534662 [GRCh38] Chr2:74761789 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1939+10G>T |
single nucleotide variant |
not provided [RCV003577962] |
Chr2:74534306 [GRCh38] Chr2:74761433 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1556C>T (p.Thr519Ile) |
single nucleotide variant |
not provided [RCV003882416] |
Chr2:74535315 [GRCh38] Chr2:74762442 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1041G>A (p.Glu347=) |
single nucleotide variant |
not provided [RCV003739658] |
Chr2:74536343 [GRCh38] Chr2:74763470 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.477+18A>T |
single nucleotide variant |
not provided [RCV003564467] |
Chr2:74550167 [GRCh38] Chr2:74777294 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.477+11C>T |
single nucleotide variant |
not provided [RCV003829143] |
Chr2:74550174 [GRCh38] Chr2:74777301 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1480G>A (p.Gly494Arg) |
single nucleotide variant |
not provided [RCV003547123] |
Chr2:74535391 [GRCh38] Chr2:74762518 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2046G>A (p.Thr682=) |
single nucleotide variant |
not provided [RCV003544840] |
Chr2:74534130 [GRCh38] Chr2:74761257 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2202T>C (p.Ser734=) |
single nucleotide variant |
not provided [RCV003547983] |
Chr2:74533666 [GRCh38] Chr2:74760793 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.4C>A (p.Arg2=) |
single nucleotide variant |
not provided [RCV003559232] |
Chr2:74552631 [GRCh38] Chr2:74779758 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1857T>C (p.Tyr619=) |
single nucleotide variant |
not provided [RCV003849773] |
Chr2:74534398 [GRCh38] Chr2:74761525 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.913-19G>A |
single nucleotide variant |
not provided [RCV003659545] |
Chr2:74536490 [GRCh38] Chr2:74763617 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1940-19C>T |
single nucleotide variant |
not provided [RCV003664122] |
Chr2:74534255 [GRCh38] Chr2:74761382 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1580-18C>T |
single nucleotide variant |
not provided [RCV003849788] |
Chr2:74534792 [GRCh38] Chr2:74761919 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.824G>T (p.Gly275Val) |
single nucleotide variant |
not provided [RCV003673688] |
Chr2:74536797 [GRCh38] Chr2:74763924 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1869C>T (p.Thr623=) |
single nucleotide variant |
LOXL3-related disorder [RCV003901241]|not provided [RCV003671009] |
Chr2:74534386 [GRCh38] Chr2:74761513 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1940-14del |
deletion |
not provided [RCV003664121] |
Chr2:74534250 [GRCh38] Chr2:74761377 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1207G>A (p.Gly403Arg) |
single nucleotide variant |
not provided [RCV003671556] |
Chr2:74536037 [GRCh38] Chr2:74763164 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1917C>T (p.Leu639=) |
single nucleotide variant |
not provided [RCV003669892] |
Chr2:74534338 [GRCh38] Chr2:74761465 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.375C>T (p.Ala125=) |
single nucleotide variant |
not provided [RCV003833882] |
Chr2:74550287 [GRCh38] Chr2:74777414 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.989C>T (p.Thr330Ile) |
single nucleotide variant |
not provided [RCV003580808] |
Chr2:74536395 [GRCh38] Chr2:74763522 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2189-8C>T |
single nucleotide variant |
not provided [RCV003663942] |
Chr2:74533687 [GRCh38] Chr2:74760814 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1212-15C>T |
single nucleotide variant |
not provided [RCV003673072] |
Chr2:74532805 [GRCh38] Chr2:74759932 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2174A>C (p.His725Pro) |
single nucleotide variant |
not provided [RCV003549855] |
Chr2:74533896 [GRCh38] Chr2:74761023 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1579+20A>G |
single nucleotide variant |
not provided [RCV003856077] |
Chr2:74535272 [GRCh38] Chr2:74762399 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1249-11T>C |
single nucleotide variant |
not provided [RCV003836039] |
Chr2:74535766 [GRCh38] Chr2:74762893 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1417-6C>T |
single nucleotide variant |
not provided [RCV003674104] |
Chr2:74535460 [GRCh38] Chr2:74762587 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1050C>T (p.Phe350=) |
single nucleotide variant |
not provided [RCV003558930] |
Chr2:74536334 [GRCh38] Chr2:74763461 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1362T>C (p.Pro454=) |
single nucleotide variant |
not provided [RCV003850178] |
Chr2:74532970 [GRCh38] Chr2:74760097 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1356C>A (p.Thr452=) |
single nucleotide variant |
not provided [RCV003723516] |
Chr2:74535648 [GRCh38] Chr2:74762775 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1095C>T (p.Gly365=) |
single nucleotide variant |
not provided [RCV003668213] |
Chr2:74536149 [GRCh38] Chr2:74763276 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1249-12G>A |
single nucleotide variant |
not provided [RCV003560670] |
Chr2:74535767 [GRCh38] Chr2:74762894 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2262A>G (p.Ter754=) |
single nucleotide variant |
not provided [RCV003701928] |
Chr2:74533606 [GRCh38] Chr2:74760733 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.939C>A (p.Ala313=) |
single nucleotide variant |
not provided [RCV003700373] |
Chr2:74536445 [GRCh38] Chr2:74763572 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1404C>T (p.Asn468=) |
single nucleotide variant |
not provided [RCV003668834] |
Chr2:74535600 [GRCh38] Chr2:74762727 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1125C>T (p.Arg375=) |
single nucleotide variant |
not provided [RCV003667948] |
Chr2:74536119 [GRCh38] Chr2:74763246 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.478-16G>T |
single nucleotide variant |
not provided [RCV003836423] |
Chr2:74549599 [GRCh38] Chr2:74776726 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1933C>T (p.Gln645Ter) |
single nucleotide variant |
not provided [RCV003709043] |
Chr2:74534322 [GRCh38] Chr2:74761449 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.744C>T (p.Cys248=) |
single nucleotide variant |
not provided [RCV003845508] |
Chr2:74536877 [GRCh38] Chr2:74764004 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1094-13C>T |
single nucleotide variant |
not provided [RCV003681971] |
Chr2:74536163 [GRCh38] Chr2:74763290 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1824-10C>T |
single nucleotide variant |
not provided [RCV003541814] |
Chr2:74534441 [GRCh38] Chr2:74761568 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1093+9G>C |
single nucleotide variant |
not provided [RCV003563269] |
Chr2:74536282 [GRCh38] Chr2:74763409 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.381G>A (p.Arg127=) |
single nucleotide variant |
not provided [RCV003818884] |
Chr2:74550281 [GRCh38] Chr2:74777408 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1116-8A>C |
single nucleotide variant |
not provided [RCV003566276] |
Chr2:74532611 [GRCh38] Chr2:74759738 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1332C>T (p.Leu444=) |
single nucleotide variant |
not provided [RCV003676262] |
Chr2:74535672 [GRCh38] Chr2:74762799 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.825C>G (p.Gly275=) |
single nucleotide variant |
not provided [RCV003821566] |
Chr2:74536796 [GRCh38] Chr2:74763923 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2154T>C (p.Asp718=) |
single nucleotide variant |
not provided [RCV003683418] |
Chr2:74533916 [GRCh38] Chr2:74761043 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1211+16C>T |
single nucleotide variant |
not provided [RCV003709945] |
Chr2:74532730 [GRCh38] Chr2:74759857 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1185T>C (p.Asp395=) |
single nucleotide variant |
not provided [RCV003867416] |
Chr2:74536059 [GRCh38] Chr2:74763186 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2058A>C (p.Pro686=) |
single nucleotide variant |
not provided [RCV003680646] |
Chr2:74534118 [GRCh38] Chr2:74761245 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1779G>A (p.Arg593=) |
single nucleotide variant |
not provided [RCV003841997] |
Chr2:74534575 [GRCh38] Chr2:74761702 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1824-27_1824-18del |
deletion |
not provided [RCV003860446] |
Chr2:74534449..74534458 [GRCh38] Chr2:74761576..74761585 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1579+15G>C |
single nucleotide variant |
not provided [RCV003676508] |
Chr2:74535277 [GRCh38] Chr2:74762404 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1314A>G (p.Ala438=) |
single nucleotide variant |
not provided [RCV003684530] |
Chr2:74532922 [GRCh38] Chr2:74760049 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1341A>G (p.Thr447=) |
single nucleotide variant |
not provided [RCV003707257] |
Chr2:74532949 [GRCh38] Chr2:74760076 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1761G>A (p.Leu587=) |
single nucleotide variant |
not provided [RCV003718780] |
Chr2:74534593 [GRCh38] Chr2:74761720 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1608A>T (p.Ala536=) |
single nucleotide variant |
not provided [RCV003685820] |
Chr2:74534746 [GRCh38] Chr2:74761873 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1594T>C (p.Leu532=) |
single nucleotide variant |
not provided [RCV003707513] |
Chr2:74534760 [GRCh38] Chr2:74761887 [GRCh37] Chr2:2p13.1 |
likely benign |
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1 |
copy number loss |
not specified [RCV003986388] |
Chr2:71076472..76368354 [GRCh37] Chr2:2p13.3-12 |
likely pathogenic |
NM_032603.5(LOXL3):c.1579+19G>A |
single nucleotide variant |
not provided [RCV003844748] |
Chr2:74535273 [GRCh38] Chr2:74762400 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.913-19G>C |
single nucleotide variant |
not provided [RCV003853550] |
Chr2:74536490 [GRCh38] Chr2:74763617 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1580-19C>T |
single nucleotide variant |
not provided [RCV003841355] |
Chr2:74534793 [GRCh38] Chr2:74761920 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1579+16G>A |
single nucleotide variant |
not provided [RCV003853140] |
Chr2:74535276 [GRCh38] Chr2:74762403 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1249-12G>T |
single nucleotide variant |
not provided [RCV003842019] |
Chr2:74535767 [GRCh38] Chr2:74762894 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1211+15G>A |
single nucleotide variant |
not provided [RCV003820831] |
Chr2:74532729 [GRCh38] Chr2:74759856 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1940-17T>C |
single nucleotide variant |
not provided [RCV003846648] |
Chr2:74534253 [GRCh38] Chr2:74761380 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1668G>C (p.Ala556=) |
single nucleotide variant |
not provided [RCV003676064] |
Chr2:74534686 [GRCh38] Chr2:74761813 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1065A>G (p.Glu355=) |
single nucleotide variant |
not provided [RCV003568078] |
Chr2:74536319 [GRCh38] Chr2:74763446 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1362T>A (p.Pro454=) |
single nucleotide variant |
HTRA2-related disorder [RCV003914456] |
Chr2:74532970 [GRCh38] Chr2:74760097 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.762C>G (p.His254Gln) |
single nucleotide variant |
LOXL3-related disorder [RCV003894170] |
Chr2:74536859 [GRCh38] Chr2:74763986 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.658C>T (p.Pro220Ser) |
single nucleotide variant |
LOXL3-related disorder [RCV003893875] |
Chr2:74549403 [GRCh38] Chr2:74776530 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1182T>C (p.His394=) |
single nucleotide variant |
HTRA2-related disorder [RCV003894585] |
Chr2:74532685 [GRCh38] Chr2:74759812 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1471C>T (p.Arg491Cys) |
single nucleotide variant |
not specified [RCV004410460] |
Chr2:74535400 [GRCh38] Chr2:74762527 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.163G>A (p.Glu55Lys) |
single nucleotide variant |
not specified [RCV004410461] |
Chr2:74552472 [GRCh38] Chr2:74779599 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1726C>T (p.Arg576Cys) |
single nucleotide variant |
not specified [RCV004410462] |
Chr2:74534628 [GRCh38] Chr2:74761755 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.670A>G (p.Arg224Gly) |
single nucleotide variant |
not specified [RCV004410463] |
Chr2:74549391 [GRCh38] Chr2:74776518 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.874G>A (p.Gly292Ser) |
single nucleotide variant |
not specified [RCV004410464] |
Chr2:74536747 [GRCh38] Chr2:74763874 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_001381.5(DOK1):c.382C>T (p.Pro128Ser) |
single nucleotide variant |
not specified [RCV004384005] |
Chr2:74555596 [GRCh38] Chr2:74782723 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2203G>A (p.Glu735Lys) |
single nucleotide variant |
not specified [RCV004637371] |
Chr2:74533665 [GRCh38] Chr2:74760792 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.22C>A (p.Gln8Lys) |
single nucleotide variant |
not specified [RCV004637372] |
Chr2:74552613 [GRCh38] Chr2:74779740 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1156G>T (p.Asp386Tyr) |
single nucleotide variant |
Autism [RCV004698696] |
Chr2:74532659 [GRCh38] Chr2:74759786 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_001381.5(DOK1):c.445A>G (p.Thr149Ala) |
single nucleotide variant |
not specified [RCV004624535] |
Chr2:74555659 [GRCh38] Chr2:74782786 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1322G>A (p.Arg441His) |
single nucleotide variant |
not specified [RCV004637375] |
Chr2:74535682 [GRCh38] Chr2:74762809 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.376T>G (p.Ser126Ala) |
single nucleotide variant |
not specified [RCV004637373] |
Chr2:74550286 [GRCh38] Chr2:74777413 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1789G>A (p.Gly597Arg) |
single nucleotide variant |
not specified [RCV004637374] |
Chr2:74534565 [GRCh38] Chr2:74761692 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.202A>T (p.Thr68Ser) |
single nucleotide variant |
LOXL3-related disorder [RCV004747645] |
Chr2:74552433 [GRCh38] Chr2:74779560 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.765C>A (p.Leu255=) |
single nucleotide variant |
LOXL3-related disorder [RCV004747548] |
Chr2:74536856 [GRCh38] Chr2:74763983 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.2010C>A (p.Tyr670Ter) |
single nucleotide variant |
not provided [RCV004726151] |
Chr2:74534166 [GRCh38] Chr2:74761293 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.112G>A (p.Gly38Arg) |
single nucleotide variant |
not specified [RCV004936417] |
Chr2:74552523 [GRCh38] Chr2:74779650 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.103A>C (p.Lys35Gln) |
single nucleotide variant |
not specified [RCV004936416] |
Chr2:74552532 [GRCh38] Chr2:74779659 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.380G>A (p.Arg127Gln) |
single nucleotide variant |
not specified [RCV004936419] |
Chr2:74550282 [GRCh38] Chr2:74777409 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_001381.5(DOK1):c.257C>T (p.Ala86Val) |
single nucleotide variant |
not specified [RCV004912000] |
Chr2:74555350 [GRCh38] Chr2:74782477 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_001381.5(DOK1):c.417G>C (p.Glu139Asp) |
single nucleotide variant |
not specified [RCV004920226] |
Chr2:74555631 [GRCh38] Chr2:74782758 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1792C>T (p.Arg598Cys) |
single nucleotide variant |
not specified [RCV004935084] |
Chr2:74534562 [GRCh38] Chr2:74761689 [GRCh37] Chr2:2p13.1 |
uncertain significance |
Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
NM_032603.5(LOXL3):c.536G>T (p.Arg179Ile) |
single nucleotide variant |
not provided [RCV003118037] |
Chr2:74549525 [GRCh38] Chr2:74776652 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1216G>T (p.Gly406Cys) |
single nucleotide variant |
3-methylglutaconic aciduria type 8 [RCV004799708] |
Chr2:74532824 [GRCh38] Chr2:74759951 [GRCh37] Chr2:2p13.1 |
likely pathogenic |
NM_032603.5(LOXL3):c.980C>T (p.Thr327Ile) |
single nucleotide variant |
not provided [RCV001888435] |
Chr2:74536404 [GRCh38] Chr2:74763531 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.559G>A (p.Gly187Arg) |
single nucleotide variant |
not provided [RCV001905287] |
Chr2:74549502 [GRCh38] Chr2:74776629 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1223G>A (p.Arg408Gln) |
single nucleotide variant |
not provided [RCV001922160] |
Chr2:74532831 [GRCh38] Chr2:74759958 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.180A>T (p.Ile60=) |
single nucleotide variant |
not provided [RCV002105006] |
Chr2:74552455 [GRCh38] Chr2:74779582 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.544C>T (p.Leu182=) |
single nucleotide variant |
LOXL3-related disorder [RCV003933358]|not provided [RCV002073677] |
Chr2:74549517 [GRCh38] Chr2:74776644 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1616A>G (p.Gln539Arg) |
single nucleotide variant |
not provided [RCV003115199] |
Chr2:74534738 [GRCh38] Chr2:74761865 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.2233C>G (p.Pro745Ala) |
single nucleotide variant |
not specified [RCV004138199] |
Chr2:74533635 [GRCh38] Chr2:74760762 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1623C>T (p.Thr541=) |
single nucleotide variant |
not provided [RCV002705548] |
Chr2:74534731 [GRCh38] Chr2:74761858 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1532G>T (p.Cys511Phe) |
single nucleotide variant |
not provided [RCV002952752] |
Chr2:74535339 [GRCh38] Chr2:74762466 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1116-12G>A |
single nucleotide variant |
not provided [RCV002625558] |
Chr2:74532607 [GRCh38] Chr2:74759734 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1267C>G (p.Arg423Gly) |
single nucleotide variant |
not specified [RCV004116538] |
Chr2:74535737 [GRCh38] Chr2:74762864 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1143C>G (p.Leu381=) |
single nucleotide variant |
not provided [RCV002985732] |
Chr2:74536101 [GRCh38] Chr2:74763228 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.548C>T (p.Pro183Leu) |
single nucleotide variant |
not provided [RCV002676623] |
Chr2:74549513 [GRCh38] Chr2:74776640 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.861C>T (p.Tyr287=) |
single nucleotide variant |
not provided [RCV002603164] |
Chr2:74536760 [GRCh38] Chr2:74763887 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_032603.5(LOXL3):c.1043T>C (p.Leu348Pro) |
single nucleotide variant |
not provided [RCV003325777] |
Chr2:74536341 [GRCh38] Chr2:74763468 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu) |
single nucleotide variant |
Leigh syndrome [RCV003330494] |
Chr2:74532675 [GRCh38] Chr2:74759802 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.879G>C (p.Gln293His) |
single nucleotide variant |
not specified [RCV004352318] |
Chr2:74536742 [GRCh38] Chr2:74763869 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.864G>A (p.Ala288=) |
single nucleotide variant |
not provided [RCV003839602] |
Chr2:74536757 [GRCh38] Chr2:74763884 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1191C>T (p.Ile397=) |
single nucleotide variant |
not provided [RCV003702283] |
Chr2:74532694 [GRCh38] Chr2:74759821 [GRCh37] Chr2:2p13.1 |
likely benign |
NM_013247.5(HTRA2):c.1225C>T (p.Pro409Ser) |
single nucleotide variant |
not provided [RCV003728243] |
Chr2:74532833 [GRCh38] Chr2:74759960 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1253G>A (p.Arg418Gln) |
single nucleotide variant |
not specified [RCV004936421] |
Chr2:74535751 [GRCh38] Chr2:74762878 [GRCh37] Chr2:2p13.1 |
uncertain significance |
NM_032603.5(LOXL3):c.1286G>A (p.Arg429Gln) |
single nucleotide variant |
not specified [RCV004936422] |
Chr2:74535718 [GRCh38] Chr2:74762845 [GRCh37] Chr2:2p13.1 |
uncertain significance |