GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 |
copy number gain |
See cases [RCV000050866] |
Chr12:118165459..133182322 [GRCh38] Chr12:118603264..133758908 [GRCh37] Chr12:117087647..132268981 [NCBI36] Chr12:12q24.23-24.33 |
pathogenic |
GRCh38/hg38 12q24.33(chr12:131924544-133191400)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051346]|See cases [RCV000051346] |
Chr12:131924544..133191400 [GRCh38] Chr12:132409089..133767986 [GRCh37] Chr12:130975042..132278059 [NCBI36] Chr12:12q24.33 |
pathogenic |
GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 |
copy number gain |
See cases [RCV000051151] |
Chr12:123444758..133191400 [GRCh38] Chr12:123929305..133767986 [GRCh37] Chr12:122495258..132278059 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3 |
copy number gain |
See cases [RCV000053715] |
Chr12:126403612..133166920 [GRCh38] Chr12:126888158..133743506 [GRCh37] Chr12:125454111..132253579 [NCBI36] Chr12:12q24.32-24.33 |
pathogenic |
GRCh38/hg38 12q24.33(chr12:131049491-133191400)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053717]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053717]|See cases [RCV000053717] |
Chr12:131049491..133191400 [GRCh38] Chr12:131534036..133767986 [GRCh37] Chr12:130099989..132278059 [NCBI36] Chr12:12q24.33 |
pathogenic |
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 |
copy number gain |
See cases [RCV000053689] |
Chr12:115131583..133166920 [GRCh38] Chr12:115569388..133743506 [GRCh37] Chr12:114053771..132253579 [NCBI36] Chr12:12q24.21-24.33 |
pathogenic |
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] |
Chr12:119417382..133191400 [GRCh38] Chr12:119855187..133767986 [GRCh37] Chr12:118339570..132278059 [NCBI36] Chr12:12q24.23-24.33 |
pathogenic |
GRCh38/hg38 12q24.31-24.33(chr12:123365769-133191400)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|See cases [RCV000053693] |
Chr12:123365769..133191400 [GRCh38] Chr12:123850316..133767986 [GRCh37] Chr12:122416269..132278059 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
NM_001142641.1(FBRSL1):c.490-1367G>A |
single nucleotide variant |
Lung cancer [RCV000110798] |
Chr12:132524367 [GRCh38] Chr12:133100953 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1 |
copy number loss |
See cases [RCV000133777] |
Chr12:132576614..133191400 [GRCh38] Chr12:133153200..133767986 [GRCh37] Chr12:131663273..132278059 [NCBI36] Chr12:12q24.33 |
pathogenic |
GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1 |
copy number loss |
See cases [RCV000134173] |
Chr12:131650542..133191400 [GRCh38] Chr12:132135087..133767986 [GRCh37] Chr12:130701040..132278059 [NCBI36] Chr12:12q24.33 |
pathogenic |
GRCh38/hg38 12q24.33(chr12:132562876-132588256)x3 |
copy number gain |
See cases [RCV000135170] |
Chr12:132562876..132588256 [GRCh38] Chr12:133139462..133164842 [GRCh37] Chr12:131649535..131674915 [NCBI36] Chr12:12q24.33 |
likely benign |
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 |
copy number gain |
See cases [RCV000135535] |
Chr12:123509825..133191400 [GRCh38] Chr12:123994372..133767986 [GRCh37] Chr12:122560325..132278059 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 |
copy number gain |
See cases [RCV000137651] |
Chr12:120697672..133202490 [GRCh38] Chr12:121135475..133779076 [GRCh37] Chr12:119619858..132289149 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 |
copy number gain |
See cases [RCV000143656] |
Chr12:114268403..133201316 [GRCh38] Chr12:114706208..133777902 [GRCh37] Chr12:113190591..132287975 [NCBI36] Chr12:12q24.21-24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12q24.33(chr12:131749518-133777902)x1 |
copy number loss |
See cases [RCV000449052] |
Chr12:131749518..133777902 [GRCh37] Chr12:12q24.33 |
pathogenic |
GRCh37/hg19 12q24.33(chr12:133091631-133393167)x3 |
copy number gain |
See cases [RCV000240061] |
Chr12:133091631..133393167 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12q24.33(chr12:132382041-133777902)x1 |
copy number loss |
See cases [RCV000446819] |
Chr12:132382041..133777902 [GRCh37] Chr12:12q24.33 |
pathogenic |
GRCh37/hg19 12q24.33(chr12:133128380-133212484)x3 |
copy number gain |
See cases [RCV000447235] |
Chr12:133128380..133212484 [GRCh37] Chr12:12q24.33 |
likely benign |
GRCh37/hg19 12q24.33(chr12:131862310-133777902)x1 |
copy number loss |
See cases [RCV000447834] |
Chr12:131862310..133777902 [GRCh37] Chr12:12q24.33 |
pathogenic |
GRCh37/hg19 12q24.33(chr12:132441175-133071304)x3 |
copy number gain |
See cases [RCV000510504] |
Chr12:132441175..133071304 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q24.33(chr12:133061680-133510071)x1 |
copy number loss |
See cases [RCV000510309] |
Chr12:133061680..133510071 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_001367871.1(FBRSL1):c.1377+292C>T |
single nucleotide variant |
not specified [RCV004330772] |
Chr12:132571523 [GRCh38] Chr12:133148109 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2738C>T (p.Ala913Val) |
single nucleotide variant |
not specified [RCV004307753] |
Chr12:132583507 [GRCh38] Chr12:133160093 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.922G>A (p.Gly308Ser) |
single nucleotide variant |
not specified [RCV004315669] |
Chr12:132570156 [GRCh38] Chr12:133146742 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.887G>A (p.Arg296His) |
single nucleotide variant |
not specified [RCV004302329] |
Chr12:132570121 [GRCh38] Chr12:133146707 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12q24.33(chr12:133046203-133777902)x3 |
copy number gain |
See cases [RCV000512177] |
Chr12:133046203..133777902 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3 |
copy number gain |
not provided [RCV000683469] |
Chr12:130973400..133777902 [GRCh37] Chr12:12q24.33 |
likely pathogenic |
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 |
copy number gain |
not provided [RCV000738070] |
Chr12:120367241..133777645 [GRCh37] Chr12:12q24.23-24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q24.33(chr12:132879672-133491098)x3 |
copy number gain |
not provided [RCV000750633] |
Chr12:132879672..133491098 [GRCh37] Chr12:12q24.33 |
benign |
GRCh37/hg19 12q24.33(chr12:133060725-133196596)x1 |
copy number loss |
not provided [RCV000750636] |
Chr12:133060725..133196596 [GRCh37] Chr12:12q24.33 |
benign |
GRCh37/hg19 12q24.33(chr12:133085227-133089054)x1 |
copy number loss |
not provided [RCV000750637] |
Chr12:133085227..133089054 [GRCh37] Chr12:12q24.33 |
benign |
GRCh37/hg19 12q24.33(chr12:133095629-133181425)x3 |
copy number gain |
not provided [RCV000750638] |
Chr12:133095629..133181425 [GRCh37] Chr12:12q24.33 |
benign |
GRCh37/hg19 12q24.33(chr12:133130292-133196619)x3 |
copy number gain |
not provided [RCV000750639] |
Chr12:133130292..133196619 [GRCh37] Chr12:12q24.33 |
benign |
GRCh37/hg19 12q24.33(chr12:133146701-133196619)x3 |
copy number gain |
not provided [RCV000750640] |
Chr12:133146701..133196619 [GRCh37] Chr12:12q24.33 |
benign |
GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3 |
copy number gain |
See cases [RCV000790570] |
Chr12:131363916..133777645 [GRCh37] Chr12:12q24.33 |
pathogenic |
NM_001367871.1(FBRSL1):c.2883G>C (p.Thr961=) |
single nucleotide variant |
not provided [RCV000948404] |
Chr12:132583652 [GRCh38] Chr12:133160238 [GRCh37] Chr12:12q24.33 |
benign |
NM_001367871.1(FBRSL1):c.775G>A (p.Glu259Lys) |
single nucleotide variant |
not specified [RCV004291245] |
Chr12:132570009 [GRCh38] Chr12:133146595 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.772G>A (p.Ala258Thr) |
single nucleotide variant |
not specified [RCV004318460] |
Chr12:132570006 [GRCh38] Chr12:133146592 [GRCh37] Chr12:12q24.33 |
likely benign |
GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935) |
copy number gain |
not provided [RCV000767827] |
Chr12:125451405..133810935 [GRCh37] Chr12:12q24.31-24.33 |
pathogenic |
GRCh37/hg19 12q24.33(chr12:133152213-133280073)x3 |
copy number gain |
not provided [RCV000848313] |
Chr12:133152213..133280073 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12q24.33(chr12:133095871-133402932)x3 |
copy number gain |
not provided [RCV001006542] |
Chr12:133095871..133402932 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1 |
copy number loss |
not provided [RCV000848702] |
Chr12:126470636..133777902 [GRCh37] Chr12:12q24.32-24.33 |
uncertain significance |
GRCh37/hg19 12q24.33(chr12:132975658-133777902)x1 |
copy number loss |
not provided [RCV000847172] |
Chr12:132975658..133777902 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2242C>T (p.Pro748Ser) |
single nucleotide variant |
not specified [RCV004300057] |
Chr12:132583011 [GRCh38] Chr12:133159597 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2254G>A (p.Ala752Thr) |
single nucleotide variant |
not specified [RCV004302979] |
Chr12:132583023 [GRCh38] Chr12:133159609 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+289C>T |
single nucleotide variant |
not specified [RCV004290709] |
Chr12:132571520 [GRCh38] Chr12:133148106 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1522C>G (p.Gln508Glu) |
single nucleotide variant |
Moyamoya angiopathy [RCV004704493] |
Chr12:132572614 [GRCh38] Chr12:133149200 [GRCh37] Chr12:12q24.33 |
likely pathogenic |
GRCh37/hg19 12q24.33(chr12:133155089-133455925)x3 |
copy number gain |
not provided [RCV001260180] |
Chr12:133155089..133455925 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 |
copy number gain |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] |
Chr12:117461902..133841395 [GRCh37] Chr12:12q24.22-24.33 |
likely pathogenic |
GRCh37/hg19 12q24.33(chr12:131657203-133227428) |
copy number loss |
not specified [RCV002053033] |
Chr12:131657203..133227428 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NC_000012.11:g.(?_132414268)_(133263901_?)dup |
duplication |
Colorectal cancer, susceptibility to, 12 [RCV003109466] |
Chr12:132414268..133263901 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.885_899dup (p.Pro299_Gln300insHisArgHisThrPro) |
duplication |
not provided [RCV003115945] |
Chr12:132570111..132570112 [GRCh38] Chr12:133146697..133146698 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2810C>T (p.Ala937Val) |
single nucleotide variant |
FBRSL1-associated neurodevelopmental syndrome [RCV002227594]|not provided [RCV004694175]|not specified [RCV004917784] |
Chr12:132583579 [GRCh38] Chr12:133160165 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1912+3G>T |
single nucleotide variant |
See cases [RCV003151941] |
Chr12:132581519 [GRCh38] Chr12:133158105 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.115G>T (p.Glu39Ter) |
single nucleotide variant |
See cases [RCV003151942] |
Chr12:132490685 [GRCh38] Chr12:133067271 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.94C>T (p.Pro32Ser) |
single nucleotide variant |
not specified [RCV004302842] |
Chr12:132490664 [GRCh38] Chr12:133067250 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1630-18G>A |
single nucleotide variant |
not specified [RCV004201765] |
Chr12:132574475 [GRCh38] Chr12:133151061 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2033C>T (p.Ser678Phe) |
single nucleotide variant |
not specified [RCV004077081] |
Chr12:132582098 [GRCh38] Chr12:133158684 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2650C>T (p.Pro884Ser) |
single nucleotide variant |
not specified [RCV004194292] |
Chr12:132583419 [GRCh38] Chr12:133160005 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2621C>T (p.Ser874Phe) |
single nucleotide variant |
not specified [RCV004170798] |
Chr12:132583390 [GRCh38] Chr12:133159976 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2500G>A (p.Ala834Thr) |
single nucleotide variant |
not specified [RCV004245834] |
Chr12:132583269 [GRCh38] Chr12:133159855 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.892A>G (p.Thr298Ala) |
single nucleotide variant |
not specified [RCV004198944] |
Chr12:132570126 [GRCh38] Chr12:133146712 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.850A>G (p.Asn284Asp) |
single nucleotide variant |
not specified [RCV004210619] |
Chr12:132570084 [GRCh38] Chr12:133146670 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2561C>T (p.Pro854Leu) |
single nucleotide variant |
not specified [RCV004196101] |
Chr12:132583330 [GRCh38] Chr12:133159916 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2569G>C (p.Gly857Arg) |
single nucleotide variant |
not specified [RCV004237486] |
Chr12:132583338 [GRCh38] Chr12:133159924 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+154C>T |
single nucleotide variant |
not specified [RCV004237535] |
Chr12:132571385 [GRCh38] Chr12:133147971 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2389C>A (p.Pro797Thr) |
single nucleotide variant |
not specified [RCV004142867] |
Chr12:132583158 [GRCh38] Chr12:133159744 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1777G>A (p.Val593Met) |
single nucleotide variant |
not specified [RCV004188890] |
Chr12:132576874 [GRCh38] Chr12:133153460 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2285G>C (p.Arg762Pro) |
single nucleotide variant |
not specified [RCV004079273] |
Chr12:132583054 [GRCh38] Chr12:133159640 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.803C>T (p.Ala268Val) |
single nucleotide variant |
not specified [RCV004191392] |
Chr12:132570037 [GRCh38] Chr12:133146623 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2248A>C (p.Thr750Pro) |
single nucleotide variant |
not specified [RCV004240206] |
Chr12:132583017 [GRCh38] Chr12:133159603 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1681C>T (p.Arg561Cys) |
single nucleotide variant |
not specified [RCV004145895] |
Chr12:132574544 [GRCh38] Chr12:133151130 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.379C>G (p.Pro127Ala) |
single nucleotide variant |
not specified [RCV004127682] |
Chr12:132508240 [GRCh38] Chr12:133084826 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.815C>T (p.Ala272Val) |
single nucleotide variant |
not specified [RCV004166803] |
Chr12:132570049 [GRCh38] Chr12:133146635 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1501G>A (p.Gly501Arg) |
single nucleotide variant |
not specified [RCV004076349] |
Chr12:132572593 [GRCh38] Chr12:133149179 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2341C>T (p.Arg781Trp) |
single nucleotide variant |
not specified [RCV004106422] |
Chr12:132583110 [GRCh38] Chr12:133159696 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1943G>A (p.Gly648Asp) |
single nucleotide variant |
not specified [RCV004186517] |
Chr12:132581771 [GRCh38] Chr12:133158357 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.826G>A (p.Gly276Arg) |
single nucleotide variant |
not specified [RCV004225923] |
Chr12:132570060 [GRCh38] Chr12:133146646 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1629+50C>T |
single nucleotide variant |
not specified [RCV004213187] |
Chr12:132574398 [GRCh38] Chr12:133150984 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2351A>G (p.Glu784Gly) |
single nucleotide variant |
not specified [RCV004234304] |
Chr12:132583120 [GRCh38] Chr12:133159706 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1629+71G>A |
single nucleotide variant |
not specified [RCV004224530] |
Chr12:132574419 [GRCh38] Chr12:133151005 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1159C>T (p.Pro387Ser) |
single nucleotide variant |
not specified [RCV004132149] |
Chr12:132570486 [GRCh38] Chr12:133147072 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1709A>G (p.Gln570Arg) |
single nucleotide variant |
not specified [RCV004189420] |
Chr12:132576806 [GRCh38] Chr12:133153392 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.458C>T (p.Ala153Val) |
single nucleotide variant |
not specified [RCV004225845] |
Chr12:132508319 [GRCh38] Chr12:133084905 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2108C>T (p.Pro703Leu) |
single nucleotide variant |
not specified [RCV004198737] |
Chr12:132582173 [GRCh38] Chr12:133158759 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2455G>C (p.Gly819Arg) |
single nucleotide variant |
not specified [RCV004147849] |
Chr12:132583224 [GRCh38] Chr12:133159810 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.521G>A (p.Arg174Gln) |
single nucleotide variant |
not specified [RCV004083151] |
Chr12:132525765 [GRCh38] Chr12:133102351 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2342G>C (p.Arg781Pro) |
single nucleotide variant |
not specified [RCV004096975] |
Chr12:132583111 [GRCh38] Chr12:133159697 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2611G>A (p.Ala871Thr) |
single nucleotide variant |
not specified [RCV004184349] |
Chr12:132583380 [GRCh38] Chr12:133159966 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2879T>G (p.Val960Gly) |
single nucleotide variant |
not specified [RCV004096579] |
Chr12:132583648 [GRCh38] Chr12:133160234 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2188G>A (p.Glu730Lys) |
single nucleotide variant |
not specified [RCV004198408] |
Chr12:132582253 [GRCh38] Chr12:133158839 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+108C>T |
single nucleotide variant |
not specified [RCV004150845] |
Chr12:132571339 [GRCh38] Chr12:133147925 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2128G>A (p.Val710Met) |
single nucleotide variant |
not specified [RCV004176639] |
Chr12:132582193 [GRCh38] Chr12:133158779 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1054T>C (p.Ser352Pro) |
single nucleotide variant |
not specified [RCV004165847] |
Chr12:132570381 [GRCh38] Chr12:133146967 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.569C>T (p.Pro190Leu) |
single nucleotide variant |
not specified [RCV004154763] |
Chr12:132525813 [GRCh38] Chr12:133102399 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2458G>C (p.Glu820Gln) |
single nucleotide variant |
not specified [RCV004202040] |
Chr12:132583227 [GRCh38] Chr12:133159813 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.761G>A (p.Arg254His) |
single nucleotide variant |
not specified [RCV004234606] |
Chr12:132569995 [GRCh38] Chr12:133146581 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.685G>A (p.Asp229Asn) |
single nucleotide variant |
not specified [RCV004200922] |
Chr12:132567520 [GRCh38] Chr12:133144106 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1418G>A (p.Arg473Gln) |
single nucleotide variant |
not specified [RCV004105328] |
Chr12:132572328 [GRCh38] Chr12:133148914 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.705G>C (p.Glu235Asp) |
single nucleotide variant |
not specified [RCV004069695] |
Chr12:132569939 [GRCh38] Chr12:133146525 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.958G>A (p.Ala320Thr) |
single nucleotide variant |
not specified [RCV004121772] |
Chr12:132570192 [GRCh38] Chr12:133146778 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1616G>A (p.Arg539Gln) |
single nucleotide variant |
not specified [RCV004217535] |
Chr12:132574335 [GRCh38] Chr12:133150921 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2825T>A (p.Leu942His) |
single nucleotide variant |
not specified [RCV004190278] |
Chr12:132583594 [GRCh38] Chr12:133160180 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.502G>A (p.Val168Met) |
single nucleotide variant |
not specified [RCV004188920] |
Chr12:132525746 [GRCh38] Chr12:133102332 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2525G>T (p.Arg842Leu) |
single nucleotide variant |
not specified [RCV004136511] |
Chr12:132583294 [GRCh38] Chr12:133159880 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1475C>A (p.Thr492Asn) |
single nucleotide variant |
not specified [RCV004189105] |
Chr12:132572567 [GRCh38] Chr12:133149153 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2030G>A (p.Gly677Asp) |
single nucleotide variant |
not specified [RCV004123657] |
Chr12:132582095 [GRCh38] Chr12:133158681 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.169G>A (p.Ala57Thr) |
single nucleotide variant |
not specified [RCV004197852] |
Chr12:132490739 [GRCh38] Chr12:133067325 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.158C>A (p.Pro53His) |
single nucleotide variant |
not specified [RCV004108540] |
Chr12:132490728 [GRCh38] Chr12:133067314 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2161C>G (p.His721Asp) |
single nucleotide variant |
not specified [RCV004069412] |
Chr12:132582226 [GRCh38] Chr12:133158812 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1703A>C (p.Glu568Ala) |
single nucleotide variant |
not specified [RCV004115922] |
Chr12:132576800 [GRCh38] Chr12:133153386 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.446C>T (p.Ala149Val) |
single nucleotide variant |
not specified [RCV004120448] |
Chr12:132508307 [GRCh38] Chr12:133084893 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2641C>T (p.Pro881Ser) |
single nucleotide variant |
not specified [RCV004168804] |
Chr12:132583410 [GRCh38] Chr12:133159996 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2275C>T (p.Leu759Phe) |
single nucleotide variant |
not specified [RCV004077864] |
Chr12:132583044 [GRCh38] Chr12:133159630 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.919C>T (p.Arg307Cys) |
single nucleotide variant |
not specified [RCV004189106] |
Chr12:132570153 [GRCh38] Chr12:133146739 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2899A>G (p.Thr967Ala) |
single nucleotide variant |
not specified [RCV004189129] |
Chr12:132583668 [GRCh38] Chr12:133160254 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2062G>A (p.Glu688Lys) |
single nucleotide variant |
not specified [RCV004104713] |
Chr12:132582127 [GRCh38] Chr12:133158713 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2905C>T (p.Pro969Ser) |
single nucleotide variant |
not specified [RCV004077865] |
Chr12:132583674 [GRCh38] Chr12:133160260 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1129G>A (p.Ala377Thr) |
single nucleotide variant |
not specified [RCV004210419] |
Chr12:132570456 [GRCh38] Chr12:133147042 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1418G>T (p.Arg473Leu) |
single nucleotide variant |
not specified [RCV004223919] |
Chr12:132572328 [GRCh38] Chr12:133148914 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.514G>A (p.Gly172Ser) |
single nucleotide variant |
not specified [RCV004170882] |
Chr12:132525758 [GRCh38] Chr12:133102344 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2797C>T (p.Leu933Phe) |
single nucleotide variant |
not specified [RCV004222579] |
Chr12:132583566 [GRCh38] Chr12:133160152 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.212G>A (p.Arg71His) |
single nucleotide variant |
not specified [RCV004077710] |
Chr12:132490782 [GRCh38] Chr12:133067368 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2149G>T (p.Ala717Ser) |
single nucleotide variant |
not specified [RCV004079290] |
Chr12:132582214 [GRCh38] Chr12:133158800 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.563G>A (p.Arg188Gln) |
single nucleotide variant |
not specified [RCV004263406] |
Chr12:132525807 [GRCh38] Chr12:133102393 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.1802A>G (p.Gln601Arg) |
single nucleotide variant |
not specified [RCV004267856] |
Chr12:132576899 [GRCh38] Chr12:133153485 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2746G>A (p.Ala916Thr) |
single nucleotide variant |
not specified [RCV004283013] |
Chr12:132583515 [GRCh38] Chr12:133160101 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.119C>T (p.Pro40Leu) |
single nucleotide variant |
not specified [RCV004280289] |
Chr12:132490689 [GRCh38] Chr12:133067275 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2567G>A (p.Arg856His) |
single nucleotide variant |
not specified [RCV004257169] |
Chr12:132583336 [GRCh38] Chr12:133159922 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.379C>T (p.Pro127Ser) |
single nucleotide variant |
not specified [RCV004294310] |
Chr12:132508240 [GRCh38] Chr12:133084826 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.2642C>T (p.Pro881Leu) |
single nucleotide variant |
not specified [RCV004260563] |
Chr12:132583411 [GRCh38] Chr12:133159997 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.871C>A (p.Pro291Thr) |
single nucleotide variant |
not specified [RCV004268432] |
Chr12:132570105 [GRCh38] Chr12:133146691 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+172C>A |
single nucleotide variant |
not specified [RCV004286866] |
Chr12:132571403 [GRCh38] Chr12:133147989 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NC_000012.12:g.132237283_132491257dup |
duplication |
not specified [RCV003225618] |
Chr12:132237283..132491257 [GRCh38] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2219C>T (p.Thr740Met) |
single nucleotide variant |
not specified [RCV004258572] |
Chr12:132582988 [GRCh38] Chr12:133159574 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.833C>T (p.Pro278Leu) |
single nucleotide variant |
not specified [RCV004300073] |
Chr12:132570067 [GRCh38] Chr12:133146653 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2375A>C (p.Glu792Ala) |
single nucleotide variant |
not specified [RCV004302725] |
Chr12:132583144 [GRCh38] Chr12:133159730 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2376G>C (p.Glu792Asp) |
single nucleotide variant |
not specified [RCV004302726] |
Chr12:132583145 [GRCh38] Chr12:133159731 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.1377+268C>T |
single nucleotide variant |
not specified [RCV004340050] |
Chr12:132571499 [GRCh38] Chr12:133148085 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1629+23C>T |
single nucleotide variant |
not specified [RCV004335589] |
Chr12:132574371 [GRCh38] Chr12:133150957 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.2582C>G (p.Pro861Arg) |
single nucleotide variant |
not specified [RCV004348818] |
Chr12:132583351 [GRCh38] Chr12:133159937 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.967G>A (p.Gly323Ser) |
single nucleotide variant |
not specified [RCV004357097] |
Chr12:132570201 [GRCh38] Chr12:133146787 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.916C>T (p.Pro306Ser) |
single nucleotide variant |
not specified [RCV004365493] |
Chr12:132570150 [GRCh38] Chr12:133146736 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.902C>T (p.Pro301Leu) |
single nucleotide variant |
not specified [RCV004340366] |
Chr12:132570136 [GRCh38] Chr12:133146722 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2807C>T (p.Ala936Val) |
single nucleotide variant |
not specified [RCV004339537] |
Chr12:132583576 [GRCh38] Chr12:133160162 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+81G>A |
single nucleotide variant |
not specified [RCV004350491] |
Chr12:132571312 [GRCh38] Chr12:133147898 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.172G>A (p.Ala58Thr) |
single nucleotide variant |
not provided [RCV003679192]|not specified [RCV004337085] |
Chr12:132490742 [GRCh38] Chr12:133067328 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2342G>A (p.Arg781Gln) |
single nucleotide variant |
not specified [RCV004340547] |
Chr12:132583111 [GRCh38] Chr12:133159697 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.721G>T (p.Ala241Ser) |
single nucleotide variant |
not specified [RCV004358539] |
Chr12:132569955 [GRCh38] Chr12:133146541 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3 |
copy number gain |
not provided [RCV003484881] |
Chr12:121551496..133777902 [GRCh37] Chr12:12q24.31-24.33 |
pathogenic |
NM_001367871.1(FBRSL1):c.489+1139C>T |
single nucleotide variant |
not provided [RCV003398306] |
Chr12:132509489 [GRCh38] Chr12:133086075 [GRCh37] Chr12:12q24.33 |
likely benign |
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 |
copy number gain |
not provided [RCV003484880] |
Chr12:120880079..133777902 [GRCh37] Chr12:12q24.31-24.33 |
pathogenic |
NM_001367871.1(FBRSL1):c.2544G>A (p.Pro848=) |
single nucleotide variant |
not provided [RCV003398311] |
Chr12:132583313 [GRCh38] Chr12:133159899 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.1912+1G>A |
single nucleotide variant |
FBRSL1-related disorder [RCV003402122] |
Chr12:132581517 [GRCh38] Chr12:133158103 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1326G>A (p.Pro442=) |
single nucleotide variant |
not provided [RCV003398309] |
Chr12:132571180 [GRCh38] Chr12:133147766 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.430C>T (p.Gln144Ter) |
single nucleotide variant |
FBRSL1-related disorder [RCV003397851] |
Chr12:132508291 [GRCh38] Chr12:133084877 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1929G>A (p.Pro643=) |
single nucleotide variant |
not provided [RCV003398310] |
Chr12:132581757 [GRCh38] Chr12:133158343 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.2961G>A (p.Ala987=) |
single nucleotide variant |
not provided [RCV003398312] |
Chr12:132583730 [GRCh38] Chr12:133160316 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.966G>A (p.Ala322=) |
single nucleotide variant |
not provided [RCV003398308] |
Chr12:132570200 [GRCh38] Chr12:133146786 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.1886G>C (p.Ser629Thr) |
single nucleotide variant |
FBRSL1-related disorder [RCV003414540] |
Chr12:132581490 [GRCh38] Chr12:133158076 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1656C>T (p.His552=) |
single nucleotide variant |
not provided [RCV003410980] |
Chr12:132574519 [GRCh38] Chr12:133151105 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.876C>T (p.Pro292=) |
single nucleotide variant |
not provided [RCV003410979] |
Chr12:132570110 [GRCh38] Chr12:133146696 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.489+2042A>G |
single nucleotide variant |
not provided [RCV003410978] |
Chr12:132510392 [GRCh38] Chr12:133086978 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.845G>A (p.Arg282His) |
single nucleotide variant |
FBRSL1-related disorder [RCV003943847] |
Chr12:132570079 [GRCh38] Chr12:133146665 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.2524_2538del (p.Arg842_Gly846del) |
deletion |
FBRSL1-related disorder [RCV003904782]|Syndromic disease [RCV003994606] |
Chr12:132583285..132583299 [GRCh38] Chr12:133159871..133159885 [GRCh37] Chr12:12q24.33 |
benign|likely benign |
NM_001367871.1(FBRSL1):c.158C>T (p.Pro53Leu) |
single nucleotide variant |
not specified [RCV004386333] |
Chr12:132490728 [GRCh38] Chr12:133067314 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1769C>T (p.Ala590Val) |
single nucleotide variant |
not specified [RCV004386336] |
Chr12:132576866 [GRCh38] Chr12:133153452 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2021C>T (p.Pro674Leu) |
single nucleotide variant |
not specified [RCV004386340] |
Chr12:132582086 [GRCh38] Chr12:133158672 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2870C>T (p.Pro957Leu) |
single nucleotide variant |
not specified [RCV004386353] |
Chr12:132583639 [GRCh38] Chr12:133160225 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2903C>T (p.Pro968Leu) |
single nucleotide variant |
not specified [RCV004386354] |
Chr12:132583672 [GRCh38] Chr12:133160258 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.488A>G (p.Gln163Arg) |
single nucleotide variant |
not specified [RCV004386361] |
Chr12:132508349 [GRCh38] Chr12:133084935 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.763G>A (p.Glu255Lys) |
single nucleotide variant |
not specified [RCV004386365] |
Chr12:132569997 [GRCh38] Chr12:133146583 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.838G>A (p.Gly280Ser) |
single nucleotide variant |
not specified [RCV004386368] |
Chr12:132570072 [GRCh38] Chr12:133146658 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.377C>T (p.Pro126Leu) |
single nucleotide variant |
not specified [RCV004386359] |
Chr12:132508238 [GRCh38] Chr12:133084824 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2893C>A (p.Pro965Thr) |
single nucleotide variant |
not specified [RCV004360331] |
Chr12:132583662 [GRCh38] Chr12:133160248 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.489+1799G>A |
single nucleotide variant |
not provided [RCV003398307] |
Chr12:132510149 [GRCh38] Chr12:133086735 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.2180A>C (p.Asn727Thr) |
single nucleotide variant |
not specified [RCV004386342] |
Chr12:132582245 [GRCh38] Chr12:133158831 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2257G>A (p.Gly753Ser) |
single nucleotide variant |
not specified [RCV004386343] |
Chr12:132583026 [GRCh38] Chr12:133159612 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2287G>A (p.Ala763Thr) |
single nucleotide variant |
not specified [RCV004386345] |
Chr12:132583056 [GRCh38] Chr12:133159642 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2824C>T (p.Leu942Phe) |
single nucleotide variant |
not specified [RCV004386352] |
Chr12:132583593 [GRCh38] Chr12:133160179 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.337C>T (p.Arg113Cys) |
single nucleotide variant |
not specified [RCV004386357] |
Chr12:132508198 [GRCh38] Chr12:133084784 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.46G>A (p.Asp16Asn) |
single nucleotide variant |
not specified [RCV004386360] |
Chr12:132490616 [GRCh38] Chr12:133067202 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2972C>A (p.Ser991Tyr) |
single nucleotide variant |
not specified [RCV004386356] |
Chr12:132583741 [GRCh38] Chr12:133160327 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2272G>A (p.Gly758Ser) |
single nucleotide variant |
not specified [RCV004386344] |
Chr12:132583041 [GRCh38] Chr12:133159627 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.2534T>C (p.Leu845Pro) |
single nucleotide variant |
not specified [RCV004386347] |
Chr12:132583303 [GRCh38] Chr12:133159889 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2596C>T (p.Pro866Ser) |
single nucleotide variant |
not specified [RCV004386349] |
Chr12:132583365 [GRCh38] Chr12:133159951 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2821G>A (p.Gly941Arg) |
single nucleotide variant |
not specified [RCV004386351] |
Chr12:132583590 [GRCh38] Chr12:133160176 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.517G>A (p.Asp173Asn) |
single nucleotide variant |
not specified [RCV004386362] |
Chr12:132525761 [GRCh38] Chr12:133102347 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.814G>A (p.Ala272Thr) |
single nucleotide variant |
not specified [RCV004386367] |
Chr12:132570048 [GRCh38] Chr12:133146634 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1103G>A (p.Arg368Gln) |
single nucleotide variant |
not specified [RCV004386331] |
Chr12:132570430 [GRCh38] Chr12:133147016 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1615C>T (p.Arg539Trp) |
single nucleotide variant |
not specified [RCV004386334] |
Chr12:132574334 [GRCh38] Chr12:133150920 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.161C>G (p.Pro54Arg) |
single nucleotide variant |
not specified [RCV004386335] |
Chr12:132490731 [GRCh38] Chr12:133067317 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1855A>G (p.Asn619Asp) |
single nucleotide variant |
not specified [RCV004386338] |
Chr12:132581459 [GRCh38] Chr12:133158045 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1915C>T (p.Pro639Ser) |
single nucleotide variant |
not specified [RCV004386339] |
Chr12:132581743 [GRCh38] Chr12:133158329 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2140C>T (p.Arg714Trp) |
single nucleotide variant |
not specified [RCV004386341] |
Chr12:132582205 [GRCh38] Chr12:133158791 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2944C>T (p.Leu982Phe) |
single nucleotide variant |
not specified [RCV004386355] |
Chr12:132583713 [GRCh38] Chr12:133160299 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.358C>G (p.Arg120Gly) |
single nucleotide variant |
not specified [RCV004386358] |
Chr12:132508219 [GRCh38] Chr12:133084805 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.736A>C (p.Lys246Gln) |
single nucleotide variant |
not specified [RCV004386364] |
Chr12:132569970 [GRCh38] Chr12:133146556 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.80C>T (p.Ala27Val) |
single nucleotide variant |
not specified [RCV004386366] |
Chr12:132490650 [GRCh38] Chr12:133067236 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2662C>T (p.Arg888Cys) |
single nucleotide variant |
not specified [RCV004621125] |
Chr12:132583431 [GRCh38] Chr12:133160017 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.83G>A (p.Arg28His) |
single nucleotide variant |
not specified [RCV004621134] |
Chr12:132490653 [GRCh38] Chr12:133067239 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2059C>A (p.His687Asn) |
single nucleotide variant |
not specified [RCV004621130] |
Chr12:132582124 [GRCh38] Chr12:133158710 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2875C>G (p.Leu959Val) |
single nucleotide variant |
not specified [RCV004621133] |
Chr12:132583644 [GRCh38] Chr12:133160230 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NC_000012.11:g.(?_132414268)_(133263901_?)del |
deletion |
not provided [RCV004580022] |
Chr12:132414268..133263901 [GRCh37] Chr12:12q24.33 |
pathogenic |
NM_001367871.1(FBRSL1):c.2830G>T (p.Ala944Ser) |
single nucleotide variant |
not specified [RCV004621135] |
Chr12:132583599 [GRCh38] Chr12:133160185 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2475G>T (p.Glu825Asp) |
single nucleotide variant |
not specified [RCV004621127] |
Chr12:132583244 [GRCh38] Chr12:133159830 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2480C>T (p.Pro827Leu) |
single nucleotide variant |
not specified [RCV004621128] |
Chr12:132583249 [GRCh38] Chr12:133159835 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1936T>C (p.Phe646Leu) |
single nucleotide variant |
not specified [RCV004621131] |
Chr12:132581764 [GRCh38] Chr12:133158350 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.170C>T (p.Ala57Val) |
single nucleotide variant |
not specified [RCV004621126] |
Chr12:132490740 [GRCh38] Chr12:133067326 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2515G>C (p.Gly839Arg) |
single nucleotide variant |
not specified [RCV004621132] |
Chr12:132583284 [GRCh38] Chr12:133159870 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1814G>T (p.Arg605Leu) |
single nucleotide variant |
not specified [RCV004918638] |
Chr12:132576911 [GRCh38] Chr12:133153497 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2288C>G (p.Ala763Gly) |
single nucleotide variant |
not specified [RCV004918644] |
Chr12:132583057 [GRCh38] Chr12:133159643 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.577G>A (p.Asp193Asn) |
single nucleotide variant |
not specified [RCV004918650] |
Chr12:132525821 [GRCh38] Chr12:133102407 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+91G>C |
single nucleotide variant |
not specified [RCV004918631] |
Chr12:132571322 [GRCh38] Chr12:133147908 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2302G>A (p.Gly768Ser) |
single nucleotide variant |
not specified [RCV004918634] |
Chr12:132583071 [GRCh38] Chr12:133159657 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.266G>C (p.Ser89Thr) |
single nucleotide variant |
not specified [RCV004918640] |
Chr12:132490836 [GRCh38] Chr12:133067422 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.724G>A (p.Gly242Arg) |
single nucleotide variant |
not specified [RCV004918645] |
Chr12:132569958 [GRCh38] Chr12:133146544 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.161C>A (p.Pro54His) |
single nucleotide variant |
not specified [RCV004918646] |
Chr12:132490731 [GRCh38] Chr12:133067317 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2191G>C (p.Glu731Gln) |
single nucleotide variant |
not specified [RCV004918649] |
Chr12:132582256 [GRCh38] Chr12:133158842 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.731T>C (p.Val244Ala) |
single nucleotide variant |
not specified [RCV004918652] |
Chr12:132569965 [GRCh38] Chr12:133146551 [GRCh37] Chr12:12q24.33 |
likely benign |
NM_001367871.1(FBRSL1):c.1135A>G (p.Met379Val) |
single nucleotide variant |
not specified [RCV004918653] |
Chr12:132570462 [GRCh38] Chr12:133147048 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2060A>G (p.His687Arg) |
single nucleotide variant |
not specified [RCV004918655] |
Chr12:132582125 [GRCh38] Chr12:133158711 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1178C>T (p.Pro393Leu) |
single nucleotide variant |
not specified [RCV004918656] |
Chr12:132570505 [GRCh38] Chr12:133147091 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2431G>A (p.Asp811Asn) |
single nucleotide variant |
not specified [RCV004918639] |
Chr12:132583200 [GRCh38] Chr12:133159786 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2900C>A (p.Thr967Lys) |
single nucleotide variant |
not specified [RCV004918625] |
Chr12:132583669 [GRCh38] Chr12:133160255 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.911C>T (p.Pro304Leu) |
single nucleotide variant |
not specified [RCV004918626] |
Chr12:132570145 [GRCh38] Chr12:133146731 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.350A>G (p.Lys117Arg) |
single nucleotide variant |
not specified [RCV004918632] |
Chr12:132508211 [GRCh38] Chr12:133084797 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2611G>C (p.Ala871Pro) |
single nucleotide variant |
not specified [RCV004918642] |
Chr12:132583380 [GRCh38] Chr12:133159966 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.496G>T (p.Val166Phe) |
single nucleotide variant |
not specified [RCV004918647] |
Chr12:132525740 [GRCh38] Chr12:133102326 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1013G>A (p.Ser338Asn) |
single nucleotide variant |
not specified [RCV004916142] |
Chr12:132570340 [GRCh38] Chr12:133146926 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1063G>A (p.Gly355Arg) |
single nucleotide variant |
not specified [RCV004918629] |
Chr12:132570390 [GRCh38] Chr12:133146976 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2425C>T (p.Pro809Ser) |
single nucleotide variant |
not specified [RCV004918636] |
Chr12:132583194 [GRCh38] Chr12:133159780 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+145C>T |
single nucleotide variant |
not specified [RCV004918651] |
Chr12:132571376 [GRCh38] Chr12:133147962 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2252C>G (p.Pro751Arg) |
single nucleotide variant |
not specified [RCV004918624] |
Chr12:132583021 [GRCh38] Chr12:133159607 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.382G>A (p.Ala128Thr) |
single nucleotide variant |
not specified [RCV004918627] |
Chr12:132508243 [GRCh38] Chr12:133084829 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.964G>A (p.Ala322Thr) |
single nucleotide variant |
not specified [RCV004918628] |
Chr12:132570198 [GRCh38] Chr12:133146784 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+279G>A |
single nucleotide variant |
not specified [RCV004918630] |
Chr12:132571510 [GRCh38] Chr12:133148096 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1377+256C>T |
single nucleotide variant |
not specified [RCV004918635] |
Chr12:132571487 [GRCh38] Chr12:133148073 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.532G>A (p.Asp178Asn) |
single nucleotide variant |
not specified [RCV004916143] |
Chr12:132525776 [GRCh38] Chr12:133102362 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.587C>T (p.Ala196Val) |
single nucleotide variant |
not specified [RCV004916136] |
Chr12:132527960 [GRCh38] Chr12:133104546 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2164G>A (p.Asp722Asn) |
single nucleotide variant |
not specified [RCV004916137] |
Chr12:132582229 [GRCh38] Chr12:133158815 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.94C>A (p.Pro32Thr) |
single nucleotide variant |
not specified [RCV004916138] |
Chr12:132490664 [GRCh38] Chr12:133067250 [GRCh37] Chr12:12q24.33 |
uncertain significance |
GRCh37/hg19 12q24.32-24.33(chr12:128686315-133777902)x3 |
copy number gain |
not provided [RCV004819581] |
Chr12:128686315..133777902 [GRCh37] Chr12:12q24.32-24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2887G>T (p.Ala963Ser) |
single nucleotide variant |
not specified [RCV004916141] |
Chr12:132583656 [GRCh38] Chr12:133160242 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2588G>A (p.Arg863His) |
single nucleotide variant |
not specified [RCV004918643] |
Chr12:132583357 [GRCh38] Chr12:133159943 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2135C>G (p.Ala712Gly) |
single nucleotide variant |
not specified [RCV004918654] |
Chr12:132582200 [GRCh38] Chr12:133158786 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1798C>A (p.Pro600Thr) |
single nucleotide variant |
not specified [RCV004918633] |
Chr12:132576895 [GRCh38] Chr12:133153481 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.2527G>A (p.Glu843Lys) |
single nucleotide variant |
not specified [RCV004918641] |
Chr12:132583296 [GRCh38] Chr12:133159882 [GRCh37] Chr12:12q24.33 |
uncertain significance |
NM_001367871.1(FBRSL1):c.1025C>T (p.Pro342Leu) |
single nucleotide variant |
not specified [RCV004916140] |
Chr12:132570352 [GRCh38] Chr12:133146938 [GRCh37] Chr12:12q24.33 |
uncertain significance |