GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] |
Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 |
copy number gain |
See cases [RCV000052347] |
Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3 |
pathogenic |
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 |
copy number loss |
See cases [RCV000137079] |
Chr15:76006154..79982417 [GRCh38] Chr15:76298495..80274759 [GRCh37] Chr15:74085550..78061814 [NCBI36] Chr15:15q24.2-25.1 |
pathogenic|uncertain significance |
GRCh38/hg38 15q24.3(chr15:77193423-77828917)x3 |
copy number gain |
See cases [RCV000138994] |
Chr15:77193423..77828917 [GRCh38] Chr15:77485765..78121259 [GRCh37] Chr15:75272820..75908314 [NCBI36] Chr15:15q24.3 |
likely benign |
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 |
copy number loss |
See cases [RCV000141666] |
Chr15:70025300..78705993 [GRCh38] Chr15:70317639..78998335 [GRCh37] Chr15:68104693..76785390 [NCBI36] Chr15:15q23-25.1 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 |
copy number gain |
See cases [RCV000143019] |
Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 |
copy number gain |
See cases [RCV000142915] |
Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3 |
copy number gain |
See cases [RCV000050915] |
Chr15:77640317..78459174 [GRCh38] Chr15:77932659..78751516 [GRCh37] Chr15:75719714..76538571 [NCBI36] Chr15:15q24.3-25.1 |
uncertain significance |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 |
copy number gain |
See cases [RCV000511332] |
Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 |
copy number gain |
See cases [RCV000240526] |
Chr15:74368270..78122737 [GRCh37] Chr15:15q24.1-24.3 |
uncertain significance |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 |
copy number gain |
See cases [RCV000240602] |
Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 |
copy number gain |
not provided [RCV000415836] |
Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 |
copy number gain |
See cases [RCV000447123] |
Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q24.2-24.3(chr15:76061143-78265674)x3 |
copy number gain |
See cases [RCV000446527] |
Chr15:76061143..78265674 [GRCh37] Chr15:15q24.2-24.3 |
uncertain significance |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_032808.7(LINGO1):c.1849A>T (p.Met617Leu) |
single nucleotide variant |
not specified [RCV004304442] |
Chr15:77614058 [GRCh38] Chr15:77906400 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.461A>T (p.Lys154Met) |
single nucleotide variant |
not specified [RCV004298580] |
Chr15:77615446 [GRCh38] Chr15:77907788 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1382C>A (p.Pro461His) |
single nucleotide variant |
not specified [RCV004311977] |
Chr15:77614525 [GRCh38] Chr15:77906867 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1070C>T (p.Ser357Leu) |
single nucleotide variant |
not specified [RCV004319550] |
Chr15:77614837 [GRCh38] Chr15:77907179 [GRCh37] Chr15:15q24.3 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
NM_032808.7(LINGO1):c.869G>A (p.Arg290His) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV000678221] |
Chr15:77615038 [GRCh38] Chr15:77907380 [GRCh37] Chr15:15q24.3 |
pathogenic |
NM_032808.7(LINGO1):c.863A>G (p.Tyr288Cys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV000678222] |
Chr15:77615044 [GRCh38] Chr15:77907386 [GRCh37] Chr15:15q24.3 |
pathogenic |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 |
copy number gain |
not provided [RCV000683703] |
Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 |
copy number gain |
not provided [RCV000683710] |
Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
Single allele |
duplication |
Schizophrenia [RCV000754167] |
Chr15:74071509..77878298 [GRCh38] Chr15:15q24.1-24.3 |
likely pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q24.3(chr15:77684224-77992234)x3 |
copy number gain |
not provided [RCV000762708] |
Chr15:77684224..77992234 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.832G>A (p.Val278Met) |
single nucleotide variant |
not specified [RCV004296083] |
Chr15:77615075 [GRCh38] Chr15:77907417 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1830C>T (p.Asp610=) |
single nucleotide variant |
not provided [RCV000960873] |
Chr15:77614077 [GRCh38] Chr15:77906419 [GRCh37] Chr15:15q24.3 |
benign |
NM_032808.7(LINGO1):c.474A>G (p.Leu158=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV001730951]|not provided [RCV001686331] |
Chr15:77615433 [GRCh38] Chr15:77907775 [GRCh37] Chr15:15q24.3 |
benign |
NM_032808.7(LINGO1):c.465C>T (p.Ile155=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV001730906]|not provided [RCV001652031] |
Chr15:77615442 [GRCh38] Chr15:77907784 [GRCh37] Chr15:15q24.3 |
benign |
NM_032808.7(LINGO1):c.1575C>T (p.Pro525=) |
single nucleotide variant |
LINGO1-related condition [RCV003935909]|not provided [RCV000959226] |
Chr15:77614332 [GRCh38] Chr15:77906674 [GRCh37] Chr15:15q24.3 |
benign |
NM_032808.7(LINGO1):c.1110G>A (p.Pro370=) |
single nucleotide variant |
not provided [RCV000950459] |
Chr15:77614797 [GRCh38] Chr15:77907139 [GRCh37] Chr15:15q24.3 |
benign |
NM_032808.7(LINGO1):c.1557C>T (p.Pro519=) |
single nucleotide variant |
LINGO1-related condition [RCV003915936]|not provided [RCV000957327] |
Chr15:77614350 [GRCh38] Chr15:77906692 [GRCh37] Chr15:15q24.3 |
benign|likely benign |
NM_032808.7(LINGO1):c.114G>A (p.Ser38=) |
single nucleotide variant |
not provided [RCV000934797] |
Chr15:77615793 [GRCh38] Chr15:77908135 [GRCh37] Chr15:15q24.3 |
benign|likely benign |
NM_032808.7(LINGO1):c.1104C>T (p.Ser368=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV001731091] |
Chr15:77614803 [GRCh38] Chr15:77907145 [GRCh37] Chr15:15q24.3 |
benign |
NC_000015.9:g.(?_32964879)_(91358519_?)dup |
duplication |
Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] |
Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1 |
uncertain significance |
NM_032808.7(LINGO1):c.158G>A (p.Arg53His) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV002284059] |
Chr15:77615749 [GRCh38] Chr15:77908091 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV001332713] |
Chr15:77615837 [GRCh38] Chr15:77908179 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.295G>A (p.Glu99Lys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV001336797] |
Chr15:77615612 [GRCh38] Chr15:77907954 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV001332712] |
Chr15:77614501 [GRCh38] Chr15:77906843 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.714G>C (p.Leu238=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV001730958]|not provided [RCV001686852] |
Chr15:77615193 [GRCh38] Chr15:77907535 [GRCh37] Chr15:15q24.3 |
benign |
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV002250092] |
Chr15:77615039 [GRCh38] Chr15:77907381 [GRCh37] Chr15:15q24.3 |
pathogenic |
NM_032808.7(LINGO1):c.1825G>A (p.Ala609Thr) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV001839246]|not specified [RCV004041038] |
Chr15:77614082 [GRCh38] Chr15:77906424 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.244C>T (p.Arg82Cys) |
single nucleotide variant |
not provided [RCV002221909] |
|
uncertain significance |
NM_032808.7(LINGO1):c.1385G>A (p.Arg462Gln) |
single nucleotide variant |
not specified [RCV004324087] |
Chr15:77614522 [GRCh38] Chr15:77906864 [GRCh37] Chr15:15q24.3 |
uncertain significance |
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 |
copy number gain |
not provided [RCV002475797] |
Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NM_032808.7(LINGO1):c.668G>A (p.Arg223Gln) |
single nucleotide variant |
not specified [RCV004145520] |
Chr15:77615239 [GRCh38] Chr15:77907581 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.484A>C (p.Met162Leu) |
single nucleotide variant |
not specified [RCV004092046] |
Chr15:77615423 [GRCh38] Chr15:77907765 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.368C>T (p.Thr123Met) |
single nucleotide variant |
not specified [RCV004142126] |
Chr15:77615539 [GRCh38] Chr15:77907881 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.119C>T (p.Thr40Met) |
single nucleotide variant |
not specified [RCV004085326] |
Chr15:77615788 [GRCh38] Chr15:77908130 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1816A>G (p.Ile606Val) |
single nucleotide variant |
not specified [RCV004187176] |
Chr15:77614091 [GRCh38] Chr15:77906433 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.146C>T (p.Ser49Phe) |
single nucleotide variant |
not specified [RCV004084525] |
Chr15:77615761 [GRCh38] Chr15:77908103 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1358C>T (p.Pro453Leu) |
single nucleotide variant |
not specified [RCV004217654] |
Chr15:77614549 [GRCh38] Chr15:77906891 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1274G>A (p.Arg425His) |
single nucleotide variant |
not specified [RCV004211495] |
Chr15:77614633 [GRCh38] Chr15:77906975 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.452G>A (p.Ser151Asn) |
single nucleotide variant |
not specified [RCV004127616] |
Chr15:77615455 [GRCh38] Chr15:77907797 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.997G>A (p.Gly333Ser) |
single nucleotide variant |
not specified [RCV004290379] |
Chr15:77614910 [GRCh38] Chr15:77907252 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1322C>T (p.Thr441Met) |
single nucleotide variant |
not specified [RCV004275175] |
Chr15:77614585 [GRCh38] Chr15:77906927 [GRCh37] Chr15:15q24.3 |
uncertain significance |
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 |
copy number gain |
not provided [RCV003222839] |
Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1 |
pathogenic |
NM_032808.7(LINGO1):c.220C>T (p.Arg74Cys) |
single nucleotide variant |
not specified [RCV004264951] |
Chr15:77615687 [GRCh38] Chr15:77908029 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1711G>A (p.Val571Ile) |
single nucleotide variant |
not specified [RCV004266957] |
Chr15:77614196 [GRCh38] Chr15:77906538 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1171C>T (p.Arg391Trp) |
single nucleotide variant |
not specified [RCV004260167] |
Chr15:77614736 [GRCh38] Chr15:77907078 [GRCh37] Chr15:15q24.3 |
uncertain significance |
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 |
copy number gain |
See cases [RCV003329502] |
Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3 |
pathogenic |
NM_032808.7(LINGO1):c.1775A>C (p.Asn592Thr) |
single nucleotide variant |
not provided [RCV003326922] |
Chr15:77614132 [GRCh38] Chr15:77906474 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1184C>T (p.Thr395Met) |
single nucleotide variant |
not specified [RCV004343672] |
Chr15:77614723 [GRCh38] Chr15:77907065 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.821A>G (p.Asn274Ser) |
single nucleotide variant |
not specified [RCV004359974] |
Chr15:77615086 [GRCh38] Chr15:77907428 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.895A>G (p.Ile299Val) |
single nucleotide variant |
not specified [RCV004359975] |
Chr15:77615012 [GRCh38] Chr15:77907354 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.34G>A (p.Val12Met) |
single nucleotide variant |
not specified [RCV004348750] |
Chr15:77615873 [GRCh38] Chr15:77908215 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1795C>G (p.Pro599Ala) |
single nucleotide variant |
not specified [RCV004357708] |
Chr15:77614112 [GRCh38] Chr15:77906454 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.55C>T (p.Leu19Phe) |
single nucleotide variant |
not specified [RCV004352713] |
Chr15:77615852 [GRCh38] Chr15:77908194 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.120G>A (p.Thr40=) |
single nucleotide variant |
not provided [RCV003400962] |
Chr15:77615787 [GRCh38] Chr15:77908129 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1635C>A (p.Arg545=) |
single nucleotide variant |
not provided [RCV003400957] |
Chr15:77614272 [GRCh38] Chr15:77906614 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1359G>A (p.Pro453=) |
single nucleotide variant |
LINGO1-related condition [RCV003919122]|not provided [RCV003400960] |
Chr15:77614548 [GRCh38] Chr15:77906890 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1443G>A (p.Thr481=) |
single nucleotide variant |
not provided [RCV003411190] |
Chr15:77614464 [GRCh38] Chr15:77906806 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1635C>T (p.Arg545=) |
single nucleotide variant |
not provided [RCV003411189] |
Chr15:77614272 [GRCh38] Chr15:77906614 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1194G>A (p.Thr398=) |
single nucleotide variant |
LINGO1-related condition [RCV003901043]|not provided [RCV003400961] |
Chr15:77614713 [GRCh38] Chr15:77907055 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1503C>T (p.Asn501=) |
single nucleotide variant |
not provided [RCV003400958] |
Chr15:77614404 [GRCh38] Chr15:77906746 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1365C>T (p.Ala455=) |
single nucleotide variant |
not provided [RCV003400959] |
Chr15:77614542 [GRCh38] Chr15:77906884 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1510G>A (p.Gly504Ser) |
single nucleotide variant |
not specified [RCV004415356] |
Chr15:77614397 [GRCh38] Chr15:77906739 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1280G>A (p.Arg427Gln) |
single nucleotide variant |
not specified [RCV004415353] |
Chr15:77614627 [GRCh38] Chr15:77906969 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.7-9C>T |
single nucleotide variant |
LINGO1-related condition [RCV003976624] |
Chr15:77615909 [GRCh38] Chr15:77908251 [GRCh37] Chr15:15q24.3 |
benign |
NM_032808.7(LINGO1):c.1496C>T (p.Ala499Val) |
single nucleotide variant |
not specified [RCV004415355] |
Chr15:77614411 [GRCh38] Chr15:77906753 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.939G>T (p.Leu313=) |
single nucleotide variant |
LINGO1-related condition [RCV003914347] |
Chr15:77614968 [GRCh38] Chr15:77907310 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.945G>A (p.Glu315=) |
single nucleotide variant |
LINGO1-related condition [RCV003969057] |
Chr15:77614962 [GRCh38] Chr15:77907304 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.6+9G>A |
single nucleotide variant |
LINGO1-related condition [RCV003912189] |
Chr15:77632301 [GRCh38] Chr15:77924643 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.486G>A (p.Met162Ile) |
single nucleotide variant |
Intellectual disability, autosomal recessive 64 [RCV003991792] |
Chr15:77615421 [GRCh38] Chr15:77907763 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1458C>T (p.Tyr486=) |
single nucleotide variant |
not provided [RCV003884102] |
Chr15:77614449 [GRCh38] Chr15:77906791 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1827C>T (p.Ala609=) |
single nucleotide variant |
LINGO1-related condition [RCV003964597] |
Chr15:77614080 [GRCh38] Chr15:77906422 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1008C>T (p.Tyr336=) |
single nucleotide variant |
LINGO1-related condition [RCV003964607] |
Chr15:77614899 [GRCh38] Chr15:77907241 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.274G>A (p.Ala92Thr) |
single nucleotide variant |
LINGO1-related condition [RCV003959852] |
Chr15:77615633 [GRCh38] Chr15:77907975 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.147C>T (p.Ser49=) |
single nucleotide variant |
LINGO1-related condition [RCV003937159] |
Chr15:77615760 [GRCh38] Chr15:77908102 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.1351G>A (p.Asp451Asn) |
single nucleotide variant |
not specified [RCV004415354] |
Chr15:77614556 [GRCh38] Chr15:77906898 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.89T>C (p.Val30Ala) |
single nucleotide variant |
not specified [RCV004415358] |
Chr15:77615818 [GRCh38] Chr15:77908160 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.798G>A (p.Thr266=) |
single nucleotide variant |
LINGO1-related condition [RCV003974026] |
Chr15:77615109 [GRCh38] Chr15:77907451 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.739T>A (p.Ser247Thr) |
single nucleotide variant |
not specified [RCV004415357] |
Chr15:77615168 [GRCh38] Chr15:77907510 [GRCh37] Chr15:15q24.3 |
uncertain significance |
NM_032808.7(LINGO1):c.1668C>T (p.Thr556=) |
single nucleotide variant |
LINGO1-related condition [RCV003911771] |
Chr15:77614239 [GRCh38] Chr15:77906581 [GRCh37] Chr15:15q24.3 |
likely benign |
NM_032808.7(LINGO1):c.-4C>A |
single nucleotide variant |
LINGO1-related condition [RCV003944472] |
Chr15:77632319 [GRCh38] Chr15:77924661 [GRCh37] Chr15:15q24.3 |
likely benign |