NM_001953.5(TYMP):c.1410dup (p.Ser471fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV000018137] |
Chr22:50525808..50525809 [GRCh38] Chr22:50964237..50964238 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.516+2T>C |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018134] |
Chr22:50528510 [GRCh38] Chr22:50966939 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018136]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001831582]|not provided [RCV000497545] |
Chr22:50527265 [GRCh38] Chr22:50965694 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.1160-1G>C |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018138] |
Chr22:50526142 [GRCh38] Chr22:50964571 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) |
microsatellite |
Mitochondrial DNA depletion syndrome 1 [RCV000018139] |
Chr22:50526103..50526108 [GRCh38] Chr22:50964532..50964537 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.215-1G>C |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018142]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276279]|not provided [RCV000599020] |
Chr22:50529339 [GRCh38] Chr22:50967768 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.928+3G>A |
single nucleotide variant |
not specified [RCV000603169] |
Chr22:50526573 [GRCh38] Chr22:50965002 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018133]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276276]|not provided [RCV000498727] |
Chr22:50526638 [GRCh38] Chr22:50965067 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018135]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276278]|not provided [RCV001049989] |
Chr22:50528595 [GRCh38] Chr22:50967024 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018140]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001826476]|not provided [RCV001052862] |
Chr22:50528571 [GRCh38] Chr22:50967000 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018141]|not provided [RCV002513094] |
Chr22:50529579 [GRCh38] Chr22:50968008 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.622G>A (p.Val208Met) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018143]|not provided [RCV000199543] |
Chr22:50527612 [GRCh38] Chr22:50966041 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018144] |
Chr22:50526474 [GRCh38] Chr22:50964903 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018145]|not provided [RCV003228895] |
Chr22:50527629 [GRCh38] Chr22:50966058 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000018146]|not provided [RCV003556042]|not specified [RCV003330395] |
Chr22:50526650 [GRCh38] Chr22:50965079 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic|uncertain significance |
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 |
copy number loss |
See cases [RCV000050935] |
Chr22:45239376..50739836 [GRCh38] Chr22:45635257..51178264 [GRCh37] Chr22:44013921..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 |
copy number loss |
See cases [RCV000050848] |
Chr22:47705262..50739836 [GRCh38] Chr22:48101011..51178264 [GRCh37] Chr22:46479675..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] |
Chr22:42138114..50739836 [GRCh38] Chr22:42513525..51178264 [GRCh37] Chr22:40843471..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 |
copy number loss |
See cases [RCV000051371] |
Chr22:42433752..50738932 [GRCh38] Chr22:42829758..51177360 [GRCh37] Chr22:41159702..49524226 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 |
copy number loss |
See cases [RCV000051407] |
Chr22:42826246..50739836 [GRCh38] Chr22:43222252..51178264 [GRCh37] Chr22:41552196..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 |
copy number loss |
See cases [RCV000051408] |
Chr22:43807366..50739836 [GRCh38] Chr22:44203246..51178264 [GRCh37] Chr22:42534579..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 |
copy number loss |
See cases [RCV000051409] |
Chr22:43993654..50739977 [GRCh38] Chr22:44389534..51178405 [GRCh37] Chr22:42720867..49525271 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 |
copy number loss |
See cases [RCV000051410] |
Chr22:44740175..50739836 [GRCh38] Chr22:45136055..51178264 [GRCh37] Chr22:43514719..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 |
copy number loss |
See cases [RCV000051411] |
Chr22:45648256..50739836 [GRCh38] Chr22:46044136..51178264 [GRCh37] Chr22:44422800..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 |
copy number loss |
See cases [RCV000051412] |
Chr22:47122613..50739836 [GRCh38] Chr22:47518509..51178264 [GRCh37] Chr22:45897173..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 |
copy number loss |
See cases [RCV000051413] |
Chr22:47234701..50739836 [GRCh38] Chr22:47630451..51178264 [GRCh37] Chr22:46009115..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 |
copy number loss |
See cases [RCV000051440] |
Chr22:48138038..50739836 [GRCh38] Chr22:48533855..51178264 [GRCh37] Chr22:46912519..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] |
Chr22:48423668..50739836 [GRCh38] Chr22:48819480..51178264 [GRCh37] Chr22:47198144..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 |
copy number loss |
See cases [RCV000051442] |
Chr22:48654672..50739836 [GRCh38] Chr22:49050484..51178264 [GRCh37] Chr22:47436920..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 |
copy number loss |
See cases [RCV000051443] |
Chr22:49395349..50738932 [GRCh38] Chr22:49788999..51177360 [GRCh37] Chr22:48175003..49524226 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 |
copy number loss |
See cases [RCV000051098] |
Chr22:46065705..50739836 [GRCh38] Chr22:46461585..51178264 [GRCh37] Chr22:44840249..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 |
copy number gain |
See cases [RCV000051684] |
Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 |
copy number gain |
See cases [RCV000051686] |
Chr22:42599757..50725241 [GRCh38] Chr22:42995763..51163669 [GRCh37] Chr22:41325707..49510535 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 |
copy number gain |
See cases [RCV000051687] |
Chr22:42653747..50739836 [GRCh38] Chr22:43049753..51178264 [GRCh37] Chr22:41379697..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] |
Chr22:44700812..50739836 [GRCh38] Chr22:45096692..51178264 [GRCh37] Chr22:43475356..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 |
copy number gain |
See cases [RCV000051689] |
Chr22:44811200..50739836 [GRCh38] Chr22:45207080..51178264 [GRCh37] Chr22:43585744..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 |
copy number gain |
See cases [RCV000051682] |
Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 |
copy number gain |
See cases [RCV000052894] |
Chr22:50368887..50599372 [GRCh38] Chr22:50807316..51037801 [GRCh37] Chr22:49154182..49384667 [NCBI36] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000323507]|Mitochondrial DNA depletion syndrome 1 [RCV000403000]|Spinal muscular atrophy [RCV001274279]|not provided [RCV000676456]|not specified [RCV000118807] |
Chr22:50525807 [GRCh38] Chr22:50964236 [GRCh37] Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001953.5(TYMP):c.972C>T (p.Ala324=) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000278985]|Mitochondrial DNA depletion syndrome 1 [RCV000279726]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000338776]|Spinal muscular atrophy [RCV001276275]|not provided [RCV000676461]|not specified [RCV000118808] |
Chr22:50526433 [GRCh38] Chr22:50964862 [GRCh37] Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001953.5(TYMP):c.204C>T (p.Gly68=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001145865]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276280]|not provided [RCV000958301]|not specified [RCV000126196] |
Chr22:50529506 [GRCh38] Chr22:50967935 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.214+13G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000371647]|not provided [RCV002055631]|not specified [RCV000126197] |
Chr22:50529483 [GRCh38] Chr22:50529483..50529484 [GRCh38] Chr22:50967912 [GRCh37] Chr22:50967912..50967913 [GRCh37] Chr22:22q13.33 |
benign|uncertain significance |
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001145864]|TYMP-related disorder [RCV003925249]|not provided [RCV000513951]|not specified [RCV000126198] |
Chr22:50529311 [GRCh38] Chr22:50967740 [GRCh37] Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.831G>A (p.Leu277=) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000402916]|Mitochondrial DNA depletion syndrome 1 [RCV000406103]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000348879]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276277]|not provided [RCV000676462]|not specified [RCV000126199] |
Chr22:50526673 [GRCh38] Chr22:50965102 [GRCh37] Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001953.5(TYMP):c.1074A>G (p.Arg358=) |
single nucleotide variant |
not provided [RCV000676460]|not specified [RCV000126201] |
Chr22:50526331 [GRCh38] Chr22:50964760 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.1159+12G>A |
single nucleotide variant |
not provided [RCV002055632]|not specified [RCV000126202] |
Chr22:50526234 [GRCh38] Chr22:50964663 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000403230]|Mitochondrial DNA depletion syndrome 1 [RCV000297818]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000360806]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274281]|not provided [RCV000676458]|not specified [RCV000126203] |
Chr22:50526017 [GRCh38] Chr22:50964446 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001831922]|not provided [RCV000727125]|not specified [RCV000126204] |
Chr22:50526011 [GRCh38] Chr22:50964440 [GRCh37] Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000373441]|Mitochondrial DNA depletion syndrome 1 [RCV000306032]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274280]|TYMP-related disorder [RCV003975113]|not provided [RCV000676457]|not specified [RCV000126205] |
Chr22:50525826 [GRCh38] Chr22:50964255 [GRCh37] Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001953.5(TYMP):c.*3C>T |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000344723]|Mitochondrial DNA depletion syndrome 1 [RCV001145762]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000392548]|not specified [RCV000126207] |
Chr22:50525767 [GRCh38] Chr22:50964196 [GRCh37] Chr22:22q13.33 |
benign|uncertain significance |
NM_001953.5(TYMP):c.*10G>A |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000388646]|Mitochondrial DNA depletion syndrome 1 [RCV000289696]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000334196]|not specified [RCV000126208] |
Chr22:50525760 [GRCh38] Chr22:50964189 [GRCh37] Chr22:22q13.33 |
benign|uncertain significance |
Single allele |
deletion |
Intellectual disability [RCV001293376] |
Chr22:42333802..51195728 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 |
copy number gain |
See cases [RCV000133646] |
Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) |
single nucleotide variant |
not provided [RCV000171358]|not specified [RCV004526624] |
Chr22:50529198 [GRCh38] Chr22:50967627 [GRCh37] Chr22:22q13.33 |
likely pathogenic|uncertain significance |
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 |
copy number loss |
See cases [RCV000133859] |
Chr22:49378128..50739836 [GRCh38] Chr22:49774048..51178264 [GRCh37] Chr22:48160052..49525130 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 |
copy number loss |
See cases [RCV000133865] |
Chr22:44606363..50739836 [GRCh38] Chr22:45002243..51178264 [GRCh37] Chr22:43380907..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 |
copy number loss |
See cases [RCV000133707] |
Chr22:49315518..50739836 [GRCh38] Chr22:49711443..51178264 [GRCh37] Chr22:48097447..49525130 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 |
copy number gain |
See cases [RCV000134730] |
Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 |
copy number gain |
See cases [RCV000134513] |
Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 |
copy number loss |
See cases [RCV000135691] |
Chr22:49504768..50780581 [GRCh38] Chr22:49898417..51203353 [GRCh37] Chr22:48284421..49565875 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 |
copy number loss |
See cases [RCV000135444] |
Chr22:43902561..50739836 [GRCh38] Chr22:44298441..51178264 [GRCh37] Chr22:42629774..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 |
copy number loss |
See cases [RCV000135615] |
Chr22:46919818..50739836 [GRCh38] Chr22:47315714..51178264 [GRCh37] Chr22:45694378..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 |
copy number gain |
See cases [RCV000136106] |
Chr22:50055303..50677724 [GRCh38] Chr22:50493732..51116152 [GRCh37] Chr22:48835859..49463018 [NCBI36] Chr22:22q13.33 |
uncertain significance |
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 |
copy number gain |
See cases [RCV000136573] |
Chr22:44797239..50739836 [GRCh38] Chr22:45193119..51178264 [GRCh37] Chr22:43571783..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 |
copy number gain |
See cases [RCV000136124] |
Chr22:43992879..50683114 [GRCh38] Chr22:44388759..51121542 [GRCh37] Chr22:42720092..49468408 [NCBI36] Chr22:22q13.31-13.33 |
benign |
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 |
copy number gain |
See cases [RCV000136874] |
Chr22:50274967..50739836 [GRCh38] Chr22:50713396..51178264 [GRCh37] Chr22:49055523..49525130 [NCBI36] Chr22:22q13.33 |
benign |
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 |
copy number loss |
See cases [RCV000136921] |
Chr22:41871143..50739836 [GRCh38] Chr22:42267147..51178264 [GRCh37] Chr22:40597093..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 |
copy number loss |
See cases [RCV000136941] |
Chr22:48614336..50739836 [GRCh38] Chr22:49010148..51178264 [GRCh37] Chr22:47396711..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 |
copy number gain |
See cases [RCV000137136] |
Chr22:42710276..50739836 [GRCh38] Chr22:43106282..51178264 [GRCh37] Chr22:41436226..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 |
copy number loss |
See cases [RCV000136894] |
Chr22:44764289..50739836 [GRCh38] Chr22:45160169..51178264 [GRCh37] Chr22:43538833..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 |
copy number loss |
See cases [RCV000137377] |
Chr22:48500344..50780581 [GRCh38] Chr22:48896156..51203353 [GRCh37] Chr22:47274820..49565875 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 |
copy number loss |
See cases [RCV000140089] |
Chr22:50149563..50780522 [GRCh38] Chr22:50587992..51218950 [GRCh37] Chr22:48930119..49565816 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 |
copy number loss |
See cases [RCV000139655] |
Chr22:49535113..50780581 [GRCh38] Chr22:49928762..51203353 [GRCh37] Chr22:48314766..49565875 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 |
copy number loss |
See cases [RCV000141415] |
Chr22:42837094..50735806 [GRCh38] Chr22:43233100..51174234 [GRCh37] Chr22:41563044..49521100 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 |
copy number loss |
See cases [RCV000140901] |
Chr22:43187980..50745444 [GRCh38] Chr22:43583986..51183872 [GRCh37] Chr22:41913930..49530738 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 |
copy number loss |
See cases [RCV000140772] |
Chr22:46732445..50780522 [GRCh38] Chr22:47128342..51218950 [GRCh37] Chr22:45507006..49565816 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 |
copy number gain |
See cases [RCV000141659] |
Chr22:42380961..50759410 [GRCh38] Chr22:42776967..51197838 [GRCh37] Chr22:41106911..49544704 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1 |
copy number loss |
See cases [RCV000142303] |
Chr22:50485457..50759410 [GRCh38] Chr22:50923886..51197838 [GRCh37] Chr22:49270752..49544704 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 |
copy number gain |
See cases [RCV000142755] |
Chr22:42080077..50739836 [GRCh38] Chr22:42476081..51178264 [GRCh37] Chr22:40806027..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 |
copy number loss |
See cases [RCV000142589] |
Chr22:48241375..50739836 [GRCh38] Chr22:48637187..51178264 [GRCh37] Chr22:47015851..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 |
copy number loss |
See cases [RCV000143708] |
Chr22:49529760..50759410 [GRCh38] Chr22:49923409..51197838 [GRCh37] Chr22:48309413..49544704 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 |
copy number loss |
See cases [RCV000143487] |
Chr22:46361165..50759299 [GRCh38] Chr22:46757062..51197727 [GRCh37] Chr22:45135726..49544593 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 |
copy number gain |
See cases [RCV000148204] |
Chr22:50368887..50599372 [GRCh38] Chr22:50807316..51037801 [GRCh37] Chr22:49154182..49384667 [NCBI36] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) |
copy number loss |
not provided [RCV000767746] |
Chr22:45075720..51181759 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001145863]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273319]|not provided [RCV000676464] |
Chr22:50529152 [GRCh38] Chr22:50967581 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.281C>T (p.Ala94Val) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273320]|not provided [RCV000196647] |
Chr22:50529272 [GRCh38] Chr22:50967701 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.476A>T (p.Glu159Val) |
single nucleotide variant |
not provided [RCV000200518] |
Chr22:50528552 [GRCh38] Chr22:50966981 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.895C>A (p.Pro299Thr) |
single nucleotide variant |
not provided [RCV000197047]|not specified [RCV004700592] |
Chr22:50526609 [GRCh38] Chr22:50965038 [GRCh37] Chr22:22q13.33 |
likely pathogenic|uncertain significance |
NM_001953.5(TYMP):c.647-9C>G |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001143969]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828032]|not provided [RCV000197130] |
Chr22:50527292 [GRCh38] Chr22:50965721 [GRCh37] Chr22:22q13.33 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.516+2T>A |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828033]|TYMP-related disorder [RCV003417717]|not provided [RCV000197259] |
Chr22:50528510 [GRCh38] Chr22:50966939 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828034]|not provided [RCV000197532] |
Chr22:50526082 [GRCh38] Chr22:50964511 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.874C>G (p.Leu292Val) |
single nucleotide variant |
not provided [RCV002515445]|not specified [RCV000197889] |
Chr22:50526630 [GRCh38] Chr22:50965059 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.586G>A (p.Gly196Arg) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833161]|not provided [RCV000198014] |
Chr22:50527648 [GRCh38] Chr22:50966077 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.646+8G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001143970]|not provided [RCV000909762]|not specified [RCV000198097] |
Chr22:50527580 [GRCh38] Chr22:50966009 [GRCh37] Chr22:22q13.33 |
benign|likely benign|uncertain significance |
NM_001953.5(TYMP):c.358G>A (p.Gly120Ser) |
single nucleotide variant |
not provided [RCV000198166]|not specified [RCV004586618] |
Chr22:50529195 [GRCh38] Chr22:50967624 [GRCh37] Chr22:22q13.33 |
likely pathogenic|uncertain significance |
NM_001953.5(TYMP):c.1170G>C (p.Glu390Asp) |
single nucleotide variant |
not provided [RCV001853205]|not specified [RCV000198365] |
Chr22:50526131 [GRCh38] Chr22:50964560 [GRCh37] Chr22:22q13.33 |
likely pathogenic|likely benign|uncertain significance |
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274278]|not provided [RCV000198490] |
Chr22:50525780 [GRCh38] Chr22:50964209 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.437G>A (p.Arg146His) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000666806]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833157]|not provided [RCV000198648] |
Chr22:50528591 [GRCh38] Chr22:50967020 [GRCh37] Chr22:22q13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.683C>G (p.Ser228Cys) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833158]|not provided [RCV000195542] |
Chr22:50527247 [GRCh38] Chr22:50965676 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.814G>A (p.Ala272Thr) |
single nucleotide variant |
not provided [RCV002517271]|not specified [RCV000195691] |
Chr22:50526690 [GRCh38] Chr22:50965119 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833159]|not provided [RCV000199261] |
Chr22:50526318 [GRCh38] Chr22:50964747 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.391C>A (p.Pro131Thr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001260913]|not provided [RCV002517272] |
Chr22:50529162 [GRCh38] Chr22:50967591 [GRCh37] Chr22:22q13.33 |
likely pathogenic|uncertain significance |
NM_001953.5(TYMP):c.519G>A (p.Met173Ile) |
single nucleotide variant |
not provided [RCV000966109] |
Chr22:50527715 [GRCh38] Chr22:50966144 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.676G>A (p.Gly226Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004020434]|not provided [RCV000199474] |
Chr22:50527254 [GRCh38] Chr22:50965683 [GRCh37] Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.735G>A (p.Gln245=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000268944]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273316]|not provided [RCV000676463]|not specified [RCV000199621] |
Chr22:50527195 [GRCh38] Chr22:50965624 [GRCh37] Chr22:22q13.33 |
likely pathogenic|benign|likely benign|uncertain significance |
NM_001953.5(TYMP):c.1219G>A (p.Gly407Arg) |
single nucleotide variant |
not provided [RCV000196011] |
Chr22:50526082 [GRCh38] Chr22:50964511 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.1127G>A (p.Arg376Gln) |
single nucleotide variant |
not provided [RCV000419757] |
Chr22:50526278 [GRCh38] Chr22:50964707 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833160]|not provided [RCV000199736] |
Chr22:50525898 [GRCh38] Chr22:50964327 [GRCh37] Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.190G>A (p.Gly64Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004020433]|not provided [RCV000199888] |
Chr22:50529520 [GRCh38] Chr22:50967949 [GRCh37] Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.1159+5G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000672181]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828035]|not provided [RCV000196301]|not specified [RCV004700593] |
Chr22:50526241 [GRCh38] Chr22:50964670 [GRCh37] Chr22:22q13.33 |
likely pathogenic|uncertain significance |
NM_001953.4(TYMP):c.929-6_929-3del |
microsatellite |
Fatal Infantile Cardioencephalomyopathy [RCV000374728]|Mitochondrial DNA depletion syndrome 1 [RCV000404575]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000293978]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272325]|not provided [RCV000224802]|not specified [RCV000200098] |
Chr22:50526479..50526482 [GRCh38] Chr22:50964908..50964911 [GRCh37] Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 22q13.33(chr22:50964500-51016275)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207317] |
Chr22:50964500..51016275 [GRCh37] Chr22:22q13.33 |
uncertain significance |
Single allele |
deletion |
Autism spectrum disorder [RCV000208741] |
Chr22:49033233..51193680 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
NM_001953.5(TYMP):c.162C>G (p.Ile54Met) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208614] |
Chr22:50529548 [GRCh38] Chr22:50967977 [GRCh37] Chr22:22q13.33 |
pathogenic |
c.52_53delCT |
variation |
Mitochondrial DNA depletion syndrome 1 [RCV000208615] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208616]|not provided [RCV002517410]|not specified [RCV003235133] |
Chr22:50529582 [GRCh38] Chr22:50968011 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_001953.5(TYMP):c.1320dup (p.His441fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208617] |
Chr22:50525898..50525899 [GRCh38] Chr22:50964327..50964328 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208618] |
Chr22:50527223 [GRCh38] Chr22:50965652 [GRCh37] Chr22:22q13.33 |
pathogenic |
c.1412C>T |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208619]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208619] |
Chr22:22q13.33 |
benign |
c.622G>A |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208620]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208620] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208621] |
Chr22:50525807 [GRCh38] Chr22:50964236 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000208623] |
Chr22:50526720 [GRCh38] Chr22:50965149 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208625]|not provided [RCV002515560] |
Chr22:50526019 [GRCh38] Chr22:50964448 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208626]|not provided [RCV003556265] |
Chr22:50526639 [GRCh38] Chr22:50965068 [GRCh37] Chr22:22q13.33 |
pathogenic|uncertain significance |
NM_001953.5(TYMP):c.1160-2A>C |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208627] |
Chr22:50526143 [GRCh38] Chr22:50964572 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.847C>G (p.His283Asp) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208628]|not provided [RCV001853325] |
Chr22:50526657 [GRCh38] Chr22:50965086 [GRCh37] Chr22:22q13.33 |
pathogenic|uncertain significance |
NM_001953.5(TYMP):c.1160-1G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208629]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV000606736]|not provided [RCV001255087] |
Chr22:50526142 [GRCh38] Chr22:50964571 [GRCh37] Chr22:22q13.33 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.647C>T (p.Ala216Val) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208630] |
Chr22:50527283 [GRCh38] Chr22:50965712 [GRCh37] Chr22:22q13.33 |
likely pathogenic|benign|conflicting interpretations of pathogenicity |
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000208631] |
Chr22:50525819..50525824 [GRCh38] Chr22:50964248..50964253 [GRCh37] Chr22:22q13.33 |
pathogenic |
c.516+2T>C |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208633]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208633] |
Chr22:22q13.33 |
pathogenic |
c.433G>A |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208635]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208635] |
Chr22:22q13.33 |
pathogenic |
c.1193_1198delCGCTGG |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208636]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208636] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208638] |
Chr22:50529213 [GRCh38] Chr22:50967642 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
c.931G>C |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208639]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208639] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208640] |
Chr22:50529292 [GRCh38] Chr22:50967721 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208641] |
Chr22:50527629 [GRCh38] Chr22:50966058 [GRCh37] Chr22:22q13.33 |
pathogenic |
c.972T>C |
variation |
Mitochondrial DNA depletion syndrome 1 [RCV000208642] |
Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208643] |
Chr22:50528550 [GRCh38] Chr22:50966979 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208644] |
Chr22:50526246 [GRCh38] Chr22:50964675 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV000208645] |
Chr22:50525867..50525868 [GRCh38] Chr22:50964296..50964297 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208646] |
Chr22:50526467 [GRCh38] Chr22:50964896 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV000208647] |
Chr22:50526393..50526394 [GRCh38] Chr22:50964822..50964823 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1432C>T (p.Leu478=) |
single nucleotide variant |
not provided [RCV000896546] |
Chr22:50525787 [GRCh38] Chr22:50964216 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
c.1393G>A |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208649]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208649] |
Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1300+2T>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208650] |
Chr22:50525999 [GRCh38] Chr22:50964428 [GRCh37] Chr22:22q13.33 |
pathogenic |
c.1-11G>C |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208651]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208651] |
Chr22:22q13.33 |
pathogenic |
c.929-3_929-6delCCGC |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208653]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208653] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1311G>A (p.Trp437Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208654] |
Chr22:50525908 [GRCh38] Chr22:50964337 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.263_264del (p.Thr88fs) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000208656] |
Chr22:50529289..50529290 [GRCh38] Chr22:50967718..50967719 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208657]|not specified [RCV003479061] |
Chr22:50529325 [GRCh38] Chr22:50967754 [GRCh37] Chr22:22q13.33 |
pathogenic|uncertain significance |
c.131G>A |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208658]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208658] |
Chr22:22q13.33 |
pathogenic |
c.854T>C |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208659]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208659] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208661] |
Chr22:50527215 [GRCh38] Chr22:50965644 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.928+1G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208662] |
Chr22:50526575 [GRCh38] Chr22:50965004 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.623T>G (p.Val208Gly) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208663] |
Chr22:50527611 [GRCh38] Chr22:50966040 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208664]|not provided [RCV001853327] |
Chr22:50526474 [GRCh38] Chr22:50964903 [GRCh37] Chr22:22q13.33 |
pathogenic|uncertain significance |
NM_001953.5(TYMP):c.1301-1G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208666] |
Chr22:50525919 [GRCh38] Chr22:50964348 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208667]|not provided [RCV001853324] |
Chr22:50529278 [GRCh38] Chr22:50967707 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
c.866A>C |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208668]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208668] |
Chr22:22q13.33 |
pathogenic |
c.1069A>G |
variation |
Mitochondrial DNA depletion syndrome 1 [RCV000208669] |
Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1160-2A>G |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208670] |
Chr22:50526143 [GRCh38] Chr22:50964572 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1159+2T>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208672]|not provided [RCV000794156] |
Chr22:50526244 [GRCh38] Chr22:50964673 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) |
indel |
Mitochondrial DNA depletion syndrome 1 [RCV000208673] |
Chr22:50526386..50526395 [GRCh38] Chr22:50964815..50964824 [GRCh37] Chr22:22q13.33 |
pathogenic |
c.831G>A |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208674]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208674] |
Chr22:22q13.33 |
benign |
c.457G>A |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208676]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208676] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208677] |
Chr22:50529155 [GRCh38] Chr22:50967584 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1311del (p.Trp437fs) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000208678] |
Chr22:50525908 [GRCh38] Chr22:50964337 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV000208679] |
Chr22:50526089..50526090 [GRCh38] Chr22:50964518..50964519 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208680]|not provided [RCV003556264] |
Chr22:50529598 [GRCh38] Chr22:50968027 [GRCh37] Chr22:22q13.33 |
pathogenic |
c.665A>G |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208681]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208681] |
Chr22:22q13.33 |
pathogenic |
c.605G>C |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208682]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208682] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1401C>T (p.Phe467=) |
single nucleotide variant |
not provided [RCV001403810]|not specified [RCV000603940] |
Chr22:50525818 [GRCh38] Chr22:50964247 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208684] |
Chr22:50525859 [GRCh38] Chr22:50964288 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208685]|not provided [RCV004767153] |
Chr22:50527716 [GRCh38] Chr22:50966145 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208687]|not specified [RCV003235134] |
Chr22:50526141 [GRCh38] Chr22:50964570 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV000208688] |
Chr22:50525787..50525788 [GRCh38] Chr22:50964216..50964217 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208689] |
Chr22:50526338 [GRCh38] Chr22:50964767 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.4(TYMP):c.929-3G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208690] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000208691]|not provided [RCV001853328] |
Chr22:50525873..50525892 [GRCh38] Chr22:50964302..50964321 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
c.215-1G>C |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208693]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208693] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208694] |
Chr22:50529225 [GRCh38] Chr22:50967654 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1088del (p.Gly363fs) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000208695]|not provided [RCV003556266] |
Chr22:50526317 [GRCh38] Chr22:50964746 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.720del (p.Val241fs) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000208696] |
Chr22:50527210 [GRCh38] Chr22:50965639 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208698] |
Chr22:50529292 [GRCh38] Chr22:50967721 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208699] |
Chr22:50529564 [GRCh38] Chr22:50967993 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208700] |
Chr22:50526648 [GRCh38] Chr22:50965077 [GRCh37] Chr22:22q13.33 |
pathogenic |
c.1160-1G>C |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208702]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208702] |
Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208703] |
Chr22:50527170 [GRCh38] Chr22:50965599 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208704] |
Chr22:50528561 [GRCh38] Chr22:50966990 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208705]|not provided [RCV002517411] |
Chr22:50526293 [GRCh38] Chr22:50964722 [GRCh37] Chr22:22q13.33 |
pathogenic|uncertain significance |
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208707] |
Chr22:50529152 [GRCh38] Chr22:50967581 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208708] |
Chr22:50526474 [GRCh38] Chr22:50964903 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.99dup (p.Lys34fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV000208709] |
Chr22:50529610..50529611 [GRCh38] Chr22:50968039..50968040 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208710]|not provided [RCV001853326] |
Chr22:50526611 [GRCh38] Chr22:50965040 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.1300+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV001266751]|Mitochondrial DNA depletion syndrome 1 [RCV000208711]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828047]|not provided [RCV002515561] |
Chr22:50526000 [GRCh38] Chr22:50964429 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
c.1284T>A |
variation |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208712]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208712] |
Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208713] |
Chr22:50527704 [GRCh38] Chr22:50966133 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.966T>C (p.Thr322=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000208715] |
Chr22:50526439 [GRCh38] Chr22:50964868 [GRCh37] Chr22:22q13.33 |
benign |
Single allele |
deletion |
not provided [RCV000768459] |
Chr22:46794432..51139778 [GRCh37] Chr22:22q13.31-13.33 |
likely pathogenic |
Single allele |
deletion |
Autism spectrum disorder [RCV000208731] |
Chr22:50282986..51304566 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 |
copy number gain |
See cases [RCV000240091] |
Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV000669866] |
Chr22:50525910..50525911 [GRCh38] Chr22:50964339..50964340 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1 |
copy number loss |
See cases [RCV000240423] |
Chr22:50922386..51205985 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 |
copy number gain |
See cases [RCV000240469] |
Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33 |
pathogenic |
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 |
copy number gain |
See cases [RCV000240459] |
Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33 |
pathogenic |
NM_001953.5(TYMP):c.516+4C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000266308]|not provided [RCV001854961]|not specified [RCV000253164] |
Chr22:50528508 [GRCh38] Chr22:50966937 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000272338] |
Chr22:50527671 [GRCh38] Chr22:50966100 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1176C>T (p.Val392=) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000355404]|Mitochondrial DNA depletion syndrome 1 [RCV001148523]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000274675]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272324]|not provided [RCV000916747] |
Chr22:50526125 [GRCh38] Chr22:50964554 [GRCh37] Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.647-8C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000307838]|not provided [RCV000976220] |
Chr22:50527291 [GRCh38] Chr22:50965720 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.858G>A (p.Glu286=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000367266]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272327]|TYMP-related disorder [RCV003950191]|not provided [RCV000924526] |
Chr22:50526646 [GRCh38] Chr22:50965075 [GRCh37] Chr22:22q13.33 |
benign|likely benign|uncertain significance |
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000364806] |
Chr22:50527648 [GRCh38] Chr22:50966077 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000370522]|Mitochondrial DNA depletion syndrome 1 [RCV000275945]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000329849] |
Chr22:50526258 [GRCh38] Chr22:50964687 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.214+6_214+7del |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000279377] |
Chr22:50529489..50529490 [GRCh38] Chr22:50967918..50967919 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000377624]|Mitochondrial DNA depletion syndrome 1 [RCV001148526]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000283127]|TYMP-related disorder [RCV003957767]|not provided [RCV001478639] |
Chr22:50526377 [GRCh38] Chr22:50964806 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.516+14C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000320448]|not provided [RCV003556352] |
Chr22:50528498 [GRCh38] Chr22:50966927 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000324061] |
Chr22:50529209 [GRCh38] Chr22:50967638 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.516+10G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000377442]|not provided [RCV001505985] |
Chr22:50528502 [GRCh38] Chr22:50966931 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000380883]|Mitochondrial DNA depletion syndrome 1 [RCV001148524]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000326267]|not provided [RCV001436435] |
Chr22:50526268 [GRCh38] Chr22:50964697 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000290856]|Mitochondrial DNA depletion syndrome 1 [RCV001145763]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000341121]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272319]|TYMP-related disorder [RCV004752866]|not provided [RCV000676455] |
Chr22:50525776 [GRCh38] Chr22:50964205 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.930G>A (p.Gly310=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000334785]|not provided [RCV001402473] |
Chr22:50526475 [GRCh38] Chr22:50964904 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.-84T>C |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000294180] |
Chr22:50529977 [GRCh38] Chr22:50968406 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000336790]|not provided [RCV004694691] |
Chr22:50529508 [GRCh38] Chr22:50967937 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000407538]|Mitochondrial DNA depletion syndrome 1 [RCV001148527]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000342786]|TYMP-related disorder [RCV003957768]|not provided [RCV001399738] |
Chr22:50526410 [GRCh38] Chr22:50964839 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002520067]|Mitochondrial DNA depletion syndrome 1 [RCV000386231]|not provided [RCV002523235] |
Chr22:50529663 [GRCh38] Chr22:50968092 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.859G>A (p.Val287Met) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000300932]|not provided [RCV002520066] |
Chr22:50526645 [GRCh38] Chr22:50965074 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274282]|not provided [RCV000489154] |
Chr22:50526375 [GRCh38] Chr22:50964804 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1404C>T (p.Ala468=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278856]|not provided [RCV003738033] |
Chr22:50525815 [GRCh38] Chr22:50964244 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278859] |
Chr22:50526084 [GRCh38] Chr22:50964513 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1209G>A (p.Glu403=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278860]|not provided [RCV001478884] |
Chr22:50526092 [GRCh38] Chr22:50964521 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.418-7C>T |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278862]|not provided [RCV002069440] |
Chr22:50528617 [GRCh38] Chr22:50967046 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.60G>A (p.Gly20=) |
single nucleotide variant |
not provided [RCV002184924] |
Chr22:50529650 [GRCh38] Chr22:50968079 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) |
single nucleotide variant |
Fatal Infantile Cardioencephalomyopathy [RCV000327619]|Mitochondrial DNA depletion syndrome 1 [RCV001148525]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000291157]|not provided [RCV003765979] |
Chr22:50526361 [GRCh38] Chr22:50964790 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_005138.3(SCO2):c.-78G>C |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149987]|Fatal Infantile Cardioencephalomyopathy [RCV000364567]|Mitochondrial DNA depletion syndrome 1 [RCV000376198]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000309935]|Myopia 6 [RCV001543802]|not provided [RCV004713833] |
Chr22:50525536 [GRCh38] Chr22:50963965 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.-92C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000351551] |
Chr22:50529985 [GRCh38] Chr22:50968414 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.756A>C (p.Ala252=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000370621]|not provided [RCV001422715] |
Chr22:50527174 [GRCh38] Chr22:50965603 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.221T>A (p.Met74Lys) |
single nucleotide variant |
not specified [RCV000518152] |
Chr22:50529332 [GRCh38] Chr22:50967761 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001257988.1(TYMP):c.-185C>G |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000392133] |
Chr22:50530043 [GRCh38] Chr22:50968472 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_005138.3(SCO2):c.-135_-132dup |
duplication |
Fatal Infantile Cardioencephalomyopathy [RCV000353038]|Mitochondrial DNA depletion syndrome 1 [RCV000286473]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000316989]|not provided [RCV001799657] |
Chr22:50525589..50525590 [GRCh38] Chr22:50964018..50964019 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_005138.3(SCO2):c.-18G>A |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148414]|Fatal Infantile Cardioencephalomyopathy [RCV000402865]|Mitochondrial DNA depletion syndrome 1 [RCV000321673]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000313637]|not provided [RCV004713352]|not specified [RCV000128011] |
Chr22:50525476 [GRCh38] Chr22:50963905 [GRCh37] Chr22:22q13.33 |
benign |
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148413]|Fatal Infantile Cardioencephalomyopathy [RCV000374348]|Mitochondrial DNA depletion syndrome 1 [RCV000271220]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000338357]|Myopia 6 [RCV001807081]|not provided [RCV000676291]|not specified [RCV000128012] |
Chr22:50524353 [GRCh38] Chr22:50962782 [GRCh37] Chr22:22q13.33 |
benign |
NM_005138.3(SCO2):c.327C>T (p.His109=) |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149872]|Fatal Infantile Cardioencephalomyopathy [RCV000370305]|Mitochondrial DNA depletion syndrome 1 [RCV000365573]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000310916]|not provided [RCV000676290]|not specified [RCV000128014] |
Chr22:50524085 [GRCh38] Chr22:50962514 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_005138.3(SCO2):c.582C>T (p.Ser194=) |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148306]|Fatal Infantile Cardioencephalomyopathy [RCV000406575]|Mitochondrial DNA depletion syndrome 1 [RCV000324968]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000336884]|not provided [RCV000676289]|not specified [RCV000128015] |
Chr22:50523830 [GRCh38] Chr22:50962259 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_005138.3(SCO2):c.633A>C (p.Ala211=) |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148305]|Fatal Infantile Cardioencephalomyopathy [RCV000404245]|Mitochondrial DNA depletion syndrome 1 [RCV000269901]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000300513]|Myopia 6 [RCV001807082]|not provided [RCV000676288]|not specified [RCV000128016] |
Chr22:50523779 [GRCh38] Chr22:50962208 [GRCh37] Chr22:22q13.33 |
benign |
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145436]|Fatal Infantile Cardioencephalomyopathy [RCV000383650]|Mitochondrial DNA depletion syndrome 1 [RCV000369274]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000284953]|not provided [RCV000431453] |
Chr22:50523636 [GRCh38] Chr22:50962065 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.766-10C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000313713] |
Chr22:50526748 [GRCh38] Chr22:50965177 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.861G>A (p.Val287=) |
single nucleotide variant |
not provided [RCV000978634]|not specified [RCV000606329] |
Chr22:50526643 [GRCh38] Chr22:50965072 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.517-15G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001145862]|not provided [RCV002065305]|not specified [RCV000606871] |
Chr22:50527732 [GRCh38] Chr22:50966161 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 |
copy number loss |
See cases [RCV000449140] |
Chr22:47247169..51176099 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 |
copy number gain |
See cases [RCV000446956] |
Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 |
copy number loss |
See cases [RCV000446928] |
Chr22:47187586..51237463 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50941373-51066468)x3 |
copy number gain |
See cases [RCV000447418] |
Chr22:50941373..51066468 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1389C>T (p.Asp463=) |
single nucleotide variant |
not provided [RCV001395089]|not specified [RCV000438948] |
Chr22:50525830 [GRCh38] Chr22:50964259 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.215-8C>T |
single nucleotide variant |
TYMP-related disorder [RCV003942362]|not provided [RCV001519964] |
Chr22:50529346 [GRCh38] Chr22:50967775 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.1071C>T (p.Ala357=) |
single nucleotide variant |
not provided [RCV000879004]|not specified [RCV000419961] |
Chr22:50526334 [GRCh38] Chr22:50964763 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.231C>T (p.Ala77=) |
single nucleotide variant |
not provided [RCV001416766]|not specified [RCV000443957] |
Chr22:50529322 [GRCh38] Chr22:50967751 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.-10-36G>T |
single nucleotide variant |
not specified [RCV000423101] |
Chr22:50529755 [GRCh38] Chr22:50968184 [GRCh37] Chr22:22q13.33 |
likely benign |
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 |
copy number loss |
See cases [RCV000447857] |
Chr22:46866460..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 |
copy number gain |
See cases [RCV000448847] |
Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 |
copy number loss |
See cases [RCV000512121] |
Chr22:43381459..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
NM_001953.5(TYMP):c.1301-12dup |
duplication |
not provided [RCV002525890]|not specified [RCV000478697] |
Chr22:50525929..50525930 [GRCh38] Chr22:50964358..50964359 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.709G>T (p.Gly237Ter) |
single nucleotide variant |
not provided [RCV000497789] |
Chr22:50527221 [GRCh38] Chr22:50965650 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 |
copy number loss |
See cases [RCV000510342] |
Chr22:49628164..51197838 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 |
copy number loss |
See cases [RCV000510351] |
Chr22:46543160..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
NM_001953.5(TYMP):c.763_765del (p.Leu255del) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV000508782] |
Chr22:50527165..50527167 [GRCh38] Chr22:50965594..50965596 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 |
copy number loss |
See cases [RCV000511340] |
Chr22:48556939..51197838 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000508974] |
Chr22:50527606 [GRCh38] Chr22:50966035 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50716021-51157531)x3 |
copy number gain |
See cases [RCV000511797] |
Chr22:50716021..51157531 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 |
copy number loss |
See cases [RCV000511993] |
Chr22:49305443..51197838 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) |
copy number gain |
See cases [RCV000510873] |
Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 |
copy number loss |
See cases [RCV000511015] |
Chr22:43875989..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 |
copy number loss |
See cases [RCV000511220] |
Chr22:45261208..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 |
copy number loss |
See cases [RCV000511256] |
Chr22:43050743..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 |
copy number loss |
See cases [RCV000510765] |
Chr22:42441918..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
NM_001953.5(TYMP):c.1126C>T (p.Arg376Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003251745] |
Chr22:50526279 [GRCh38] Chr22:50964708 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) |
copy number loss |
Phelan-McDermid syndrome [RCV000767671] |
Chr22:48533991..51178264 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
NM_001953.5(TYMP):c.517-14G>A |
single nucleotide variant |
not provided [RCV002528651]|not specified [RCV000613022] |
Chr22:50527731 [GRCh38] Chr22:50966160 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.1159+18C>A |
single nucleotide variant |
not provided [RCV002066772]|not specified [RCV000613366] |
Chr22:50526228 [GRCh38] Chr22:50964657 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.-4A>G |
single nucleotide variant |
TYMP-related disorder [RCV003952979]|not provided [RCV000594925] |
Chr22:50529713 [GRCh38] Chr22:50968142 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.929-16C>T |
single nucleotide variant |
not specified [RCV000612049] |
Chr22:50526492 [GRCh38] Chr22:50964921 [GRCh37] Chr22:22q13.33 |
likely benign |
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 |
copy number loss |
See cases [RCV000512145] |
Chr22:50145416..51197838 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 |
copy number gain |
See cases [RCV000512333] |
Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_001953.5(TYMP):c.639C>T (p.Leu213=) |
single nucleotide variant |
not provided [RCV000942348]|not specified [RCV000601611] |
Chr22:50527595 [GRCh38] Chr22:50966024 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1180G>T (p.Ala394Ser) |
single nucleotide variant |
not provided [RCV000676459] |
Chr22:50526121 [GRCh38] Chr22:50964550 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000668426]|TYMP-related disorder [RCV003892517]|not provided [RCV002531198]|not specified [RCV003488791] |
Chr22:50525778 [GRCh38] Chr22:50964207 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.357G>C (p.Gly119=) |
single nucleotide variant |
not provided [RCV000676465] |
Chr22:50529196 [GRCh38] Chr22:50967625 [GRCh37] Chr22:22q13.33 |
likely benign |
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 |
copy number loss |
not provided [RCV000684522] |
Chr22:46780978..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 |
copy number loss |
not provided [RCV000684523] |
Chr22:46768838..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 |
copy number loss |
not provided [RCV000684524] |
Chr22:46667744..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 |
copy number loss |
not provided [RCV000684525] |
Chr22:45994305..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 |
copy number loss |
not provided [RCV000684526] |
Chr22:44789956..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 |
copy number loss |
not provided [RCV000684527] |
Chr22:43320284..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 |
copy number loss |
not provided [RCV000684528] |
Chr22:43111156..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 |
copy number loss |
not provided [RCV000684529] |
Chr22:42955616..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 |
copy number loss |
not provided [RCV000684487] |
Chr22:50190425..51183767 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 |
copy number loss |
not provided [RCV000684479] |
Chr22:50613566..51197838 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 |
copy number loss |
not provided [RCV000684488] |
Chr22:50134203..51183840 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.417+27G>C |
single nucleotide variant |
not provided [RCV001565694] |
Chr22:50529109 [GRCh38] Chr22:50967538 [GRCh37] Chr22:22q13.33 |
likely benign |
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 |
copy number gain |
not provided [RCV000741689] |
Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 |
copy number loss |
not provided [RCV000741989] |
Chr22:42151555..51195728 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 |
copy number gain |
not provided [RCV000741691] |
Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 |
copy number loss |
not provided [RCV000742061] |
Chr22:47782346..51243435 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 |
copy number loss |
not provided [RCV000742062] |
Chr22:48125251..51211392 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 |
copy number loss |
not provided [RCV000742071] |
Chr22:49313561..51195728 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 |
copy number loss |
not provided [RCV000742097] |
Chr22:50627704..51211392 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50921022-51054264)x3 |
copy number gain |
not provided [RCV000742112] |
Chr22:50921022..51054264 [GRCh37] Chr22:22q13.33 |
benign |
GRCh37/hg19 22q13.33(chr22:50923113-51055900)x3 |
copy number gain |
not provided [RCV000742113] |
Chr22:50923113..51055900 [GRCh37] Chr22:22q13.33 |
benign |
GRCh37/hg19 22q13.33(chr22:50942107-50988376)x3 |
copy number gain |
not provided [RCV000742115] |
Chr22:50942107..50988376 [GRCh37] Chr22:22q13.33 |
benign |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 |
copy number gain |
not provided [RCV000741692] |
Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_001953.5(TYMP):c.517-55_517-52del |
deletion |
not provided [RCV001708814] |
Chr22:50527769..50527772 [GRCh38] Chr22:50966198..50966201 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.294G>A (p.Ser98=) |
single nucleotide variant |
not provided [RCV000940792] |
Chr22:50529259 [GRCh38] Chr22:50967688 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.766-53C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001543805] |
Chr22:50526791 [GRCh38] Chr22:50965220 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.517-54_517-52del |
deletion |
not provided [RCV001534936] |
Chr22:50527769..50527771 [GRCh38] Chr22:50966198..50966200 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.267G>A (p.Ser89=) |
single nucleotide variant |
not provided [RCV000976413] |
Chr22:50529286 [GRCh38] Chr22:50967715 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.970G>T (p.Ala324Ser) |
single nucleotide variant |
not provided [RCV001667175] |
Chr22:50526435 [GRCh38] Chr22:50964864 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.517-285T>C |
single nucleotide variant |
not provided [RCV001581054] |
Chr22:50528002 [GRCh38] Chr22:50966431 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000855774] |
Chr22:50526404 [GRCh38] Chr22:50964833 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.798_801dup (p.Ala268fs) |
microsatellite |
not provided [RCV001058282] |
Chr22:50526702..50526703 [GRCh38] Chr22:50965131..50965132 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001148635]|not provided [RCV003433039] |
Chr22:50529664 [GRCh38] Chr22:50968093 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.195C>T (p.Ser65=) |
single nucleotide variant |
not provided [RCV000927929] |
Chr22:50529515 [GRCh38] Chr22:50967944 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.194G>A (p.Ser65Asn) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276281]|not provided [RCV000944682] |
Chr22:50529516 [GRCh38] Chr22:50967945 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272326]|not provided [RCV000926633] |
Chr22:50526594 [GRCh38] Chr22:50965023 [GRCh37] Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity |
NM_001953.5(TYMP):c.1320G>A (p.Val440=) |
single nucleotide variant |
not provided [RCV000928087] |
Chr22:50525899 [GRCh38] Chr22:50964328 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.402G>C (p.Ala134=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273318]|not provided [RCV000900816] |
Chr22:50529151 [GRCh38] Chr22:50967580 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.933C>G (p.Gly311=) |
single nucleotide variant |
TYMP-related disorder [RCV003928621]|not provided [RCV000981074] |
Chr22:50526472 [GRCh38] Chr22:50964901 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.177C>T (p.Ala59=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001832100]|not provided [RCV000928256] |
Chr22:50529533 [GRCh38] Chr22:50967962 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272323]|not provided [RCV000942836] |
Chr22:50526059 [GRCh38] Chr22:50964488 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+10_928+20del |
deletion |
not provided [RCV000944471] |
Chr22:50526556..50526566 [GRCh38] Chr22:50964985..50964995 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1287G>A (p.Gln429=) |
single nucleotide variant |
not provided [RCV000942408] |
Chr22:50526014 [GRCh38] Chr22:50964443 [GRCh37] Chr22:22q13.33 |
likely benign |
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 |
copy number gain |
not provided [RCV001007194] |
Chr22:49648935..51197838 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3 |
copy number gain |
not provided [RCV001007195] |
Chr22:50893448..51060012 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 |
copy number gain |
not provided [RCV001007502] |
Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33 |
pathogenic |
NM_001953.5(TYMP):c.929-1G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV000779376]|not provided [RCV003768446] |
Chr22:50526477 [GRCh38] Chr22:50964906 [GRCh37] Chr22:22q13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.150C>T (p.Ser50=) |
single nucleotide variant |
not provided [RCV000983763] |
Chr22:50529560 [GRCh38] Chr22:50967989 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1301-9G>A |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272320]|not provided [RCV000941563] |
Chr22:50525927 [GRCh38] Chr22:50964356 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.495T>C (p.Asn165=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001836052]|TYMP-related disorder [RCV003936228]|not provided [RCV000981961] |
Chr22:50528533 [GRCh38] Chr22:50966962 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+7G>C |
single nucleotide variant |
not provided [RCV000920928] |
Chr22:50526569 [GRCh38] Chr22:50964998 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.138A>C (p.Gly46=) |
single nucleotide variant |
not provided [RCV000908561] |
Chr22:50529572 [GRCh38] Chr22:50968001 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.198G>A (p.Ala66=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001827078]|not provided [RCV000976817] |
Chr22:50529512 [GRCh38] Chr22:50967941 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.90G>A (p.Ser30=) |
single nucleotide variant |
not provided [RCV000943069] |
Chr22:50529620 [GRCh38] Chr22:50968049 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.135C>T (p.Asp45=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273321]|not provided [RCV000982640] |
Chr22:50529575 [GRCh38] Chr22:50968004 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.690G>C (p.Leu230=) |
single nucleotide variant |
not provided [RCV000917275] |
Chr22:50527240 [GRCh38] Chr22:50965669 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.516+9C>T |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273317]|not provided [RCV000924331] |
Chr22:50528503 [GRCh38] Chr22:50966932 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.564T>C (p.Ser188=) |
single nucleotide variant |
not provided [RCV000917803] |
Chr22:50527670 [GRCh38] Chr22:50966099 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.621C>T (p.Thr207=) |
single nucleotide variant |
not provided [RCV000980124] |
Chr22:50527613 [GRCh38] Chr22:50966042 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) |
copy number loss |
Phelan-McDermid syndrome [RCV000767745] |
Chr22:42416026..51181759 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
NM_001953.5(TYMP):c.789G>A (p.Gly263=) |
single nucleotide variant |
not provided [RCV000828927] |
Chr22:50526715 [GRCh38] Chr22:50965144 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.418-230T>C |
single nucleotide variant |
not provided [RCV000829407] |
Chr22:50528840 [GRCh38] Chr22:50967269 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) |
duplication |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001825637]|not provided [RCV000815088] |
Chr22:50526364..50526365 [GRCh38] Chr22:50964793..50964794 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.516+27A>G |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001543806]|not provided [RCV000830814] |
Chr22:50528485 [GRCh38] Chr22:50966914 [GRCh37] Chr22:22q13.33 |
benign |
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 |
copy number gain |
not provided [RCV000846659] |
Chr22:47740201..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
NM_001953.5(TYMP):c.1266G>A (p.Glu422=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272322]|not provided [RCV000828182] |
Chr22:50526035 [GRCh38] Chr22:50964464 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV002501066]|not provided [RCV000800278] |
Chr22:50529699 [GRCh38] Chr22:50968128 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.403del (p.Ala135fs) |
deletion |
not provided [RCV000820633] |
Chr22:50529150 [GRCh38] Chr22:50967579 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) |
deletion |
not provided [RCV001869265]|not specified [RCV000825485] |
Chr22:50525858..50525879 [GRCh38] Chr22:50964287..50964308 [GRCh37] Chr22:22q13.33 |
pathogenic|uncertain significance |
NM_001953.5(TYMP):c.786A>G (p.Leu262=) |
single nucleotide variant |
not provided [RCV000842469] |
Chr22:50526718 [GRCh38] Chr22:50965147 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.586G>T (p.Gly196Ter) |
single nucleotide variant |
not provided [RCV001059593] |
Chr22:50527648 [GRCh38] Chr22:50966077 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50966042-51090760)x1 |
copy number loss |
not provided [RCV001007196] |
Chr22:50966042..51090760 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.274del (p.Thr92fs) |
deletion |
not provided [RCV001090366] |
Chr22:50529279 [GRCh38] Chr22:50967708 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001145764] |
Chr22:50525817 [GRCh38] Chr22:50964246 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1160-48G>A |
single nucleotide variant |
not provided [RCV000832992] |
Chr22:50526189 [GRCh38] Chr22:50964618 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.516+168G>T |
single nucleotide variant |
not provided [RCV000833757] |
Chr22:50528344 [GRCh38] Chr22:50966773 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.517-206G>A |
single nucleotide variant |
not provided [RCV000833758] |
Chr22:50527923 [GRCh38] Chr22:50966352 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1023C>T (p.Gly341=) |
single nucleotide variant |
not provided [RCV000980488] |
Chr22:50526382 [GRCh38] Chr22:50964811 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.765+7G>A |
single nucleotide variant |
not provided [RCV000980512] |
Chr22:50527158 [GRCh38] Chr22:50965587 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001825856]|TYMP-related disorder [RCV004753115]|not provided [RCV000920440] |
Chr22:50526112 [GRCh38] Chr22:50964541 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.1416del (p.Phe473fs) |
deletion |
not provided [RCV001008084] |
Chr22:50525803 [GRCh38] Chr22:50964232 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001027995] |
Chr22:50526357 [GRCh38] Chr22:50964786 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 |
copy number gain |
not provided [RCV000849204] |
Chr22:46432744..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 |
copy number loss |
not provided [RCV001007506] |
Chr22:48223839..51197725 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 |
copy number gain |
not provided [RCV001007181] |
Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33 |
pathogenic |
NM_001953.5(TYMP):c.417+1G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV003462808]|not provided [RCV001238376] |
Chr22:50529135 [GRCh38] Chr22:50967564 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.947dup (p.Ser317fs) |
duplication |
not provided [RCV001203813] |
Chr22:50526457..50526458 [GRCh38] Chr22:50964886..50964887 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 |
copy number gain |
not provided [RCV000846344] |
Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_001953.5(TYMP):c.524T>A (p.Val175Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003289693] |
Chr22:50527710 [GRCh38] Chr22:50966139 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.996_1026del (p.Ala333fs) |
deletion |
not provided [RCV001090364] |
Chr22:50526379..50526409 [GRCh38] Chr22:50964808..50964838 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV003469279]|not provided [RCV001090365] |
Chr22:50526460 [GRCh38] Chr22:50964889 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001148636] |
Chr22:50529682 [GRCh38] Chr22:50968111 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.-20C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001148637] |
Chr22:50529913 [GRCh38] Chr22:50968342 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1158T>C (p.Asp386=) |
single nucleotide variant |
not provided [RCV003121398] |
Chr22:50526247 [GRCh38] Chr22:50964676 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.519G>T (p.Met173Ile) |
single nucleotide variant |
not provided [RCV003106316] |
Chr22:50527715 [GRCh38] Chr22:50966144 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1110G>T (p.Gln370His) |
single nucleotide variant |
Inborn genetic diseases [RCV004285644]|not provided [RCV003234301] |
Chr22:50526295 [GRCh38] Chr22:50964724 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1324C>T (p.Arg442Trp) |
single nucleotide variant |
not provided [RCV003118196] |
Chr22:50525895 [GRCh38] Chr22:50964324 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1101A>G (p.Glu367=) |
single nucleotide variant |
not provided [RCV003118455] |
Chr22:50526304 [GRCh38] Chr22:50964733 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.61G>C (p.Glu21Gln) |
single nucleotide variant |
not provided [RCV004776760] |
Chr22:50529649 [GRCh38] Chr22:50968078 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.417+130_417+156del |
deletion |
not provided [RCV001550472] |
Chr22:50528980..50529006 [GRCh38] Chr22:50967409..50967435 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.765+178G>A |
single nucleotide variant |
not provided [RCV001545291] |
Chr22:50526987 [GRCh38] Chr22:50965416 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1301-35G>T |
single nucleotide variant |
not provided [RCV001569956] |
Chr22:50525953 [GRCh38] Chr22:50964382 [GRCh37] Chr22:22q13.33 |
likely benign |
NC_000022.10:g.(?_50904370)_(50968138_?)dup |
duplication |
not provided [RCV003107564] |
Chr22:50904370..50968138 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.517-58_517-52del |
deletion |
not provided [RCV001562597] |
Chr22:50527769..50527775 [GRCh38] Chr22:50966198..50966204 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.516+256G>A |
single nucleotide variant |
not provided [RCV001548562] |
Chr22:50528256 [GRCh38] Chr22:50966685 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.852C>T (p.Ala284=) |
single nucleotide variant |
not provided [RCV000930246] |
Chr22:50526652 [GRCh38] Chr22:50965081 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.765+7G>T |
single nucleotide variant |
not provided [RCV000979498] |
Chr22:50527158 [GRCh38] Chr22:50965587 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.180T>C (p.Ala60=) |
single nucleotide variant |
not provided [RCV000932558] |
Chr22:50529530 [GRCh38] Chr22:50967959 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1295G>A (p.Arg432His) |
single nucleotide variant |
Inborn genetic diseases [RCV004028352]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272321]|not provided [RCV000886054] |
Chr22:50526006 [GRCh38] Chr22:50964435 [GRCh37] Chr22:22q13.33 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001953.5(TYMP):c.1173G>A (p.Leu391=) |
single nucleotide variant |
not provided [RCV000927923] |
Chr22:50526128 [GRCh38] Chr22:50964557 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.585C>T (p.Asp195=) |
single nucleotide variant |
not provided [RCV000978204] |
Chr22:50527649 [GRCh38] Chr22:50966078 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.762G>A (p.Thr254=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272328]|not provided [RCV000915182] |
Chr22:50527168 [GRCh38] Chr22:50965597 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.453A>T (p.Thr151=) |
single nucleotide variant |
not provided [RCV000932156] |
Chr22:50528575 [GRCh38] Chr22:50967004 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1377C>T (p.Leu459=) |
single nucleotide variant |
not provided [RCV000932162] |
Chr22:50525842 [GRCh38] Chr22:50964271 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.519G>C (p.Met173Ile) |
single nucleotide variant |
not provided [RCV000981951] |
Chr22:50527715 [GRCh38] Chr22:50966144 [GRCh37] Chr22:22q13.33 |
likely benign |
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 |
copy number loss |
not provided [RCV001007508] |
Chr22:48528536..51183840 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001148634]|not provided [RCV001475082] |
Chr22:50529517 [GRCh38] Chr22:50967946 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.86dup (p.Ser30fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV002465088] |
Chr22:50529623..50529624 [GRCh38] Chr22:50968052..50968053 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 |
copy number loss |
not provided [RCV002473520] |
Chr22:45889148..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 |
copy number loss |
not provided [RCV002473583] |
Chr22:44390702..51137629 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 |
copy number loss |
not provided [RCV001537924] |
Chr22:50099570..51187115 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.517-52del |
deletion |
not provided [RCV001594809] |
Chr22:50527769 [GRCh38] Chr22:50966198 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.517-38T>C |
single nucleotide variant |
not provided [RCV001677852] |
Chr22:50527755 [GRCh38] Chr22:50966184 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.-11+68A>C |
single nucleotide variant |
not provided [RCV001718491] |
Chr22:50529836 [GRCh38] Chr22:50968265 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1034G>A (p.Arg345Gln) |
single nucleotide variant |
not provided [RCV001092861] |
Chr22:50526371 [GRCh38] Chr22:50964800 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.952G>C (p.Gly318Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001150096]|not provided [RCV002557229] |
Chr22:50526453 [GRCh38] Chr22:50964882 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 |
copy number gain |
not provided [RCV001007507] |
Chr22:48454469..51144947 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
NM_005138.3(SCO2):c.237G>A (p.Arg79=) |
single nucleotide variant |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145535]|Fatal Infantile Cardioencephalomyopathy [RCV000327533]|Mitochondrial DNA depletion syndrome 1 [RCV001145536]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000377551]|not provided [RCV000875350] |
Chr22:50524175 [GRCh38] Chr22:50962604 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.517-56_517-52del |
deletion |
not provided [RCV001713489] |
Chr22:50527769..50527773 [GRCh38] Chr22:50966198..50966202 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.517-57_517-52del |
deletion |
not provided [RCV001648187] |
Chr22:50527769..50527774 [GRCh38] Chr22:50966198..50966203 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1300+28C>T |
single nucleotide variant |
not provided [RCV001546590] |
Chr22:50525973 [GRCh38] Chr22:50964402 [GRCh37] Chr22:22q13.33 |
likely benign |
NC_000022.11:g.50530129C>T |
single nucleotide variant |
not provided [RCV001613654] |
Chr22:50530129 [GRCh38] Chr22:50968558 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001145765] |
Chr22:50525852 [GRCh38] Chr22:50964281 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NC_000022.10:g.(?_50964189)_(51066217_?)del |
deletion |
not provided [RCV001031919] |
Chr22:50964189..51066217 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.520C>T (p.Gln174Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV003462796]|not provided [RCV001234540] |
Chr22:50527714 [GRCh38] Chr22:50966143 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NC_000022.11:g.(?_50525760)_(50529719_?)del |
deletion |
not provided [RCV001032507] |
Chr22:50964189..50968148 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.646+1G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV003467749]|not provided [RCV001047337] |
Chr22:50527587 [GRCh38] Chr22:50966016 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NC_000022.11:g.43032129_50739836del |
deletion |
Phelan-McDermid syndrome [RCV001254356] |
Chr22:43032129..50739836 [GRCh38] Chr22:22q13.2-13.33 |
pathogenic |
NC_000022.11:g.48500344_50780581del |
deletion |
Phelan-McDermid syndrome [RCV001254361] |
Chr22:48500344..50780581 [GRCh38] Chr22:22q13.32-13.33 |
pathogenic |
NC_000022.11:g.46489644_50806138del |
deletion |
Phelan-McDermid syndrome [RCV001254363] |
Chr22:46489644..50806138 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.48500337_50739785del |
deletion |
Phelan-McDermid syndrome [RCV001254365] |
Chr22:48500337..50739785 [GRCh38] Chr22:22q13.32-13.33 |
pathogenic |
NC_000022.11:g.45819932_50737806del |
deletion |
Phelan-McDermid syndrome [RCV001254366] |
Chr22:45819932..50737806 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.46467175_50759338del |
deletion |
Phelan-McDermid syndrome [RCV001254367] |
Chr22:46467175..50759338 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.47823120_50759410del |
deletion |
Phelan-McDermid syndrome [RCV001254355] |
Chr22:47823120..50759410 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.44245760_50806121del |
deletion |
Phelan-McDermid syndrome [RCV001254369] |
Chr22:44245760..50806121 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.44702479_50806138del |
deletion |
Phelan-McDermid syndrome [RCV001254370] |
Chr22:44702479..50806138 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.47513236_50806138del |
deletion |
Phelan-McDermid syndrome [RCV001254357] |
Chr22:47513236..50806138 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.45708330_50737364del |
deletion |
Phelan-McDermid syndrome [RCV001254359] |
Chr22:45708330..50737364 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.47705262_50739836del |
deletion |
Phelan-McDermid syndrome [RCV001254360] |
Chr22:47705262..50739836 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.46269281_50740560del |
deletion |
Phelan-McDermid syndrome [RCV001254358] |
Chr22:46269281..50740560 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.43802117_50806121del |
deletion |
Phelan-McDermid syndrome [RCV001254364] |
Chr22:43802117..50806121 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
NC_000022.11:g.47447433_50806138del |
deletion |
Phelan-McDermid syndrome [RCV001254362] |
Chr22:47447433..50806138 [GRCh38] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1 |
copy number loss |
not provided [RCV001258791] |
Chr22:50791825..51181078 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.647-6C>G |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278861] |
Chr22:50527289 [GRCh38] Chr22:50965718 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1159+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV001266752]|Mitochondrial DNA depletion syndrome 1 [RCV004570658]|not provided [RCV001880125] |
Chr22:50526245 [GRCh38] Chr22:50964674 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 |
copy number gain |
See cases [RCV001263056] |
Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_001953.5(TYMP):c.594A>G (p.Leu198=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001835499]|not provided [RCV001307226] |
Chr22:50527640 [GRCh38] Chr22:50966069 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.540G>A (p.Ala180=) |
single nucleotide variant |
not provided [RCV001392852] |
Chr22:50527694 [GRCh38] Chr22:50966123 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.131G>C (p.Arg44Pro) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001279636] |
Chr22:50529579 [GRCh38] Chr22:50968008 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.264C>T (p.Thr88=) |
single nucleotide variant |
not provided [RCV001422128] |
Chr22:50529289 [GRCh38] Chr22:50967718 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.113A>G (p.Glu38Gly) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001332064] |
Chr22:50529597 [GRCh38] Chr22:50968026 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.929-9C>T |
single nucleotide variant |
not provided [RCV001396455] |
Chr22:50526485 [GRCh38] Chr22:50964914 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278857] |
Chr22:50526028 [GRCh38] Chr22:50964457 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001330872] |
Chr22:50526324 [GRCh38] Chr22:50964753 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1413G>A (p.Ser471=) |
single nucleotide variant |
TYMP-related disorder [RCV003900426]|not provided [RCV001413537] |
Chr22:50525806 [GRCh38] Chr22:50964235 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1245C>A (p.Leu415=) |
single nucleotide variant |
not provided [RCV001413723] |
Chr22:50526056 [GRCh38] Chr22:50964485 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1410C>T (p.Pro470=) |
single nucleotide variant |
not provided [RCV001413802] |
Chr22:50525809 [GRCh38] Chr22:50964238 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1419C>T (p.Phe473=) |
single nucleotide variant |
TYMP-related disorder [RCV004753313]|not provided [RCV001413292] |
Chr22:50525800 [GRCh38] Chr22:50964229 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.867G>A (p.Glu289=) |
single nucleotide variant |
not provided [RCV001396400] |
Chr22:50526637 [GRCh38] Chr22:50965066 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278858] |
Chr22:50526076 [GRCh38] Chr22:50964505 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1017C>T (p.Ala339=) |
single nucleotide variant |
not provided [RCV001395050] |
Chr22:50526388 [GRCh38] Chr22:50964817 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.87T>G (p.Pro29=) |
single nucleotide variant |
not provided [RCV001396062] |
Chr22:50529623 [GRCh38] Chr22:50968052 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1170G>A (p.Glu390=) |
single nucleotide variant |
not provided [RCV001395901] |
Chr22:50526131 [GRCh38] Chr22:50964560 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1236G>C (p.Gly412=) |
single nucleotide variant |
not provided [RCV001473092] |
Chr22:50526065 [GRCh38] Chr22:50964494 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.897G>A (p.Pro299=) |
single nucleotide variant |
not provided [RCV001465032] |
Chr22:50526607 [GRCh38] Chr22:50965036 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1251G>T (p.Leu417=) |
single nucleotide variant |
not provided [RCV001501799] |
Chr22:50526050 [GRCh38] Chr22:50964479 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1245C>G (p.Leu415=) |
single nucleotide variant |
not provided [RCV001469851] |
Chr22:50526056 [GRCh38] Chr22:50964485 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1416C>T (p.Pro472=) |
single nucleotide variant |
not provided [RCV001482453] |
Chr22:50525803 [GRCh38] Chr22:50964232 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1301-2_1305del |
deletion |
not provided [RCV001508949] |
Chr22:50525914..50525920 [GRCh38] Chr22:50964343..50964349 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.330G>C (p.Gln110His) |
single nucleotide variant |
not provided [RCV001508951] |
Chr22:50529223 [GRCh38] Chr22:50967652 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1270C>T (p.Leu424=) |
single nucleotide variant |
not provided [RCV001416874] |
Chr22:50526031 [GRCh38] Chr22:50964460 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1164C>A (p.Thr388=) |
single nucleotide variant |
not provided [RCV001482647] |
Chr22:50526137 [GRCh38] Chr22:50964566 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1323C>T (p.His441=) |
single nucleotide variant |
not provided [RCV001505968] |
Chr22:50525896 [GRCh38] Chr22:50964325 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1140G>A (p.Glu380=) |
single nucleotide variant |
not provided [RCV001473583] |
Chr22:50526265 [GRCh38] Chr22:50964694 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.214+10G>C |
single nucleotide variant |
not provided [RCV001461556] |
Chr22:50529486 [GRCh38] Chr22:50967915 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1164C>T (p.Thr388=) |
single nucleotide variant |
not provided [RCV001473849] |
Chr22:50526137 [GRCh38] Chr22:50964566 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.825G>A (p.Lys275=) |
single nucleotide variant |
not provided [RCV001503255] |
Chr22:50526679 [GRCh38] Chr22:50965108 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1300+7G>A |
single nucleotide variant |
not provided [RCV001402627] |
Chr22:50525994 [GRCh38] Chr22:50964423 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.30G>A (p.Gly10=) |
single nucleotide variant |
not provided [RCV001457861] |
Chr22:50529680 [GRCh38] Chr22:50968109 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.339G>A (p.Val113=) |
single nucleotide variant |
not provided [RCV001473983] |
Chr22:50529214 [GRCh38] Chr22:50967643 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1077C>T (p.Ala359=) |
single nucleotide variant |
not provided [RCV001480186] |
Chr22:50526328 [GRCh38] Chr22:50964757 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.156G>A (p.Ala52=) |
single nucleotide variant |
not provided [RCV001474036] |
Chr22:50529554 [GRCh38] Chr22:50967983 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1032G>A (p.Glu344=) |
single nucleotide variant |
not provided [RCV001503331] |
Chr22:50526373 [GRCh38] Chr22:50964802 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.153A>G (p.Glu51=) |
single nucleotide variant |
not provided [RCV001489133] |
Chr22:50529557 [GRCh38] Chr22:50967986 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1374G>C (p.Ala458=) |
single nucleotide variant |
not provided [RCV001492871] |
Chr22:50525845 [GRCh38] Chr22:50964274 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1275C>G (p.Val425=) |
single nucleotide variant |
not provided [RCV001426306] |
Chr22:50526026 [GRCh38] Chr22:50964455 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.463T>C (p.Leu155=) |
single nucleotide variant |
not provided [RCV001503428] |
Chr22:50528565 [GRCh38] Chr22:50966994 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.906A>G (p.Leu302=) |
single nucleotide variant |
not provided [RCV001477583] |
Chr22:50526598 [GRCh38] Chr22:50965027 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+10G>C |
single nucleotide variant |
not provided [RCV001403517] |
Chr22:50526236 [GRCh38] Chr22:50964665 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.552C>T (p.Ile184=) |
single nucleotide variant |
not provided [RCV001393307] |
Chr22:50527682 [GRCh38] Chr22:50966111 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.471G>A (p.Lys157=) |
single nucleotide variant |
not provided [RCV001493209] |
Chr22:50528557 [GRCh38] Chr22:50966986 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1149G>A (p.Ala383=) |
single nucleotide variant |
not provided [RCV001501439] |
Chr22:50526256 [GRCh38] Chr22:50964685 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.774G>A (p.Val258=) |
single nucleotide variant |
not provided [RCV001466501] |
Chr22:50526730 [GRCh38] Chr22:50965159 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) |
single nucleotide variant |
Mitochondrial neurogastrointestinal encephalomyopathy [RCV001832682]|not provided [RCV001512517] |
Chr22:50526116 [GRCh38] Chr22:50964545 [GRCh37] Chr22:22q13.33 |
benign|likely benign |
NM_001953.5(TYMP):c.646+7T>C |
single nucleotide variant |
not provided [RCV001493633] |
Chr22:50527581 [GRCh38] Chr22:50966010 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1152C>T (p.Pro384=) |
single nucleotide variant |
not provided [RCV001441004] |
Chr22:50526253 [GRCh38] Chr22:50964682 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.753G>C (p.Leu251=) |
single nucleotide variant |
not provided [RCV001432608] |
Chr22:50527177 [GRCh38] Chr22:50965606 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+10G>A |
single nucleotide variant |
not provided [RCV001402053] |
Chr22:50526236 [GRCh38] Chr22:50964665 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.573G>A (p.Leu191=) |
single nucleotide variant |
not provided [RCV001440892] |
Chr22:50527661 [GRCh38] Chr22:50966090 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.165G>A (p.Arg55=) |
single nucleotide variant |
not provided [RCV001399521] |
Chr22:50529545 [GRCh38] Chr22:50967974 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.696G>C (p.Val232=) |
single nucleotide variant |
not provided [RCV001430319] |
Chr22:50527234 [GRCh38] Chr22:50965663 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1104C>A (p.Arg368=) |
single nucleotide variant |
not provided [RCV001407020] |
Chr22:50526301 [GRCh38] Chr22:50964730 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.831G>C (p.Leu277=) |
single nucleotide variant |
not provided [RCV001392904] |
Chr22:50526673 [GRCh38] Chr22:50965102 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1083C>T (p.Cys361=) |
single nucleotide variant |
not provided [RCV001430322] |
Chr22:50526322 [GRCh38] Chr22:50964751 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.602C>A (p.Ala201Asp) |
single nucleotide variant |
not provided [RCV001439126] |
Chr22:50527632 [GRCh38] Chr22:50966061 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1183C>T (p.Leu395=) |
single nucleotide variant |
not provided [RCV001398230] |
Chr22:50526118 [GRCh38] Chr22:50964547 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+9C>T |
single nucleotide variant |
not provided [RCV001416037] |
Chr22:50526237 [GRCh38] Chr22:50964666 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1300+9C>T |
single nucleotide variant |
not provided [RCV001429337] |
Chr22:50525992 [GRCh38] Chr22:50964421 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.912C>T (p.Asp304=) |
single nucleotide variant |
not provided [RCV001441834] |
Chr22:50526592 [GRCh38] Chr22:50965021 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1065T>C (p.Gly355=) |
single nucleotide variant |
not provided [RCV001426356] |
Chr22:50526340 [GRCh38] Chr22:50964769 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1071C>A (p.Ala357=) |
single nucleotide variant |
not provided [RCV001428820] |
Chr22:50526334 [GRCh38] Chr22:50964763 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.766-4G>A |
single nucleotide variant |
not provided [RCV001403933] |
Chr22:50526742 [GRCh38] Chr22:50965171 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.108C>A (p.Leu36=) |
single nucleotide variant |
not provided [RCV001434662] |
Chr22:50529602 [GRCh38] Chr22:50968031 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1014G>C (p.Ser338=) |
single nucleotide variant |
not provided [RCV001408430] |
Chr22:50526391 [GRCh38] Chr22:50964820 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.963G>A (p.Gly321=) |
single nucleotide variant |
not provided [RCV001410996] |
Chr22:50526442 [GRCh38] Chr22:50964871 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.45T>G (p.Pro15=) |
single nucleotide variant |
not provided [RCV001437787] |
Chr22:50529665 [GRCh38] Chr22:50968094 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.853C>T (p.Leu285=) |
single nucleotide variant |
not provided [RCV001402651] |
Chr22:50526651 [GRCh38] Chr22:50965080 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+10A>G |
single nucleotide variant |
not provided [RCV001445620] |
Chr22:50526566 [GRCh38] Chr22:50964995 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+9G>C |
single nucleotide variant |
not provided [RCV001438355] |
Chr22:50526567 [GRCh38] Chr22:50964996 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.317_330del (p.Glu106fs) |
deletion |
not provided [RCV001385921] |
Chr22:50529223..50529236 [GRCh38] Chr22:50967652..50967665 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.237A>T (p.Arg79=) |
single nucleotide variant |
not provided [RCV001428528] |
Chr22:50529316 [GRCh38] Chr22:50967745 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1380A>T (p.Val460=) |
single nucleotide variant |
not provided [RCV001445619] |
Chr22:50525839 [GRCh38] Chr22:50964268 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1253G>C (p.Gly418Ala) |
single nucleotide variant |
not provided [RCV001508950] |
Chr22:50526048 [GRCh38] Chr22:50964477 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1302G>A (p.Gly434=) |
single nucleotide variant |
not provided [RCV001472960] |
Chr22:50525917 [GRCh38] Chr22:50964346 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1233T>G (p.Ala411=) |
single nucleotide variant |
not provided [RCV001464680] |
Chr22:50526068 [GRCh38] Chr22:50964497 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.156G>C (p.Ala52=) |
single nucleotide variant |
not provided [RCV001495919] |
Chr22:50529554 [GRCh38] Chr22:50967983 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+7G>T |
single nucleotide variant |
not provided [RCV001491229] |
Chr22:50526239 [GRCh38] Chr22:50964668 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.183G>C (p.Val61=) |
single nucleotide variant |
not provided [RCV001496526] |
Chr22:50529527 [GRCh38] Chr22:50967956 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.929-5C>T |
single nucleotide variant |
not provided [RCV001499899] |
Chr22:50526481 [GRCh38] Chr22:50964910 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.111G>A (p.Pro37=) |
single nucleotide variant |
not provided [RCV001479699] |
Chr22:50529599 [GRCh38] Chr22:50968028 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004681189]|not provided [RCV001452130] |
Chr22:50529705 [GRCh38] Chr22:50968134 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.1308C>T (p.Pro436=) |
single nucleotide variant |
not provided [RCV001459603] |
Chr22:50525911 [GRCh38] Chr22:50964340 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-29C>G |
single nucleotide variant |
not provided [RCV001716639] |
Chr22:50526170 [GRCh38] Chr22:50964599 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1160-7C>T |
single nucleotide variant |
not provided [RCV001488218] |
Chr22:50526148 [GRCh38] Chr22:50964577 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+7G>A |
single nucleotide variant |
not provided [RCV001488222] |
Chr22:50526569 [GRCh38] Chr22:50964998 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1050G>A (p.Gln350=) |
single nucleotide variant |
not provided [RCV001478278] |
Chr22:50526355 [GRCh38] Chr22:50964784 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.363G>A (p.Val121=) |
single nucleotide variant |
not provided [RCV001501625] |
Chr22:50529190 [GRCh38] Chr22:50967619 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+1G>T |
single nucleotide variant |
not provided [RCV001379850] |
Chr22:50526245 [GRCh38] Chr22:50964674 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.120C>G (p.Ile40Met) |
single nucleotide variant |
not provided [RCV001508952] |
Chr22:50529590 [GRCh38] Chr22:50968019 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.89C>T (p.Ser30Leu) |
single nucleotide variant |
not provided [RCV001508953] |
Chr22:50529621 [GRCh38] Chr22:50968050 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.384C>T (p.Val128=) |
single nucleotide variant |
not provided [RCV001477427] |
Chr22:50529169 [GRCh38] Chr22:50967598 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1440G>A (p.Pro480=) |
single nucleotide variant |
not provided [RCV001468478] |
Chr22:50525779 [GRCh38] Chr22:50964208 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1363C>T (p.Leu455=) |
single nucleotide variant |
not provided [RCV001477532] |
Chr22:50525856 [GRCh38] Chr22:50964285 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1305C>A (p.Thr435=) |
single nucleotide variant |
not provided [RCV001453066] |
Chr22:50525914 [GRCh38] Chr22:50964343 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.646+9A>T |
single nucleotide variant |
not provided [RCV001495892] |
Chr22:50527579 [GRCh38] Chr22:50966008 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.418-6C>T |
single nucleotide variant |
not provided [RCV001485919] |
Chr22:50528616 [GRCh38] Chr22:50967045 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.20del (p.Pro7fs) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV003463022]|not provided [RCV001388327] |
Chr22:50529690 [GRCh38] Chr22:50968119 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.807G>T (p.Ala269=) |
single nucleotide variant |
not provided [RCV001488170] |
Chr22:50526697 [GRCh38] Chr22:50965126 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.903C>T (p.Asp301=) |
single nucleotide variant |
not provided [RCV001491149] |
Chr22:50526601 [GRCh38] Chr22:50965030 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.192G>A (p.Gly64=) |
single nucleotide variant |
not provided [RCV001498606] |
Chr22:50529518 [GRCh38] Chr22:50967947 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-16_1160-7dup |
duplication |
not provided [RCV001481709] |
Chr22:50526147..50526148 [GRCh38] Chr22:50964576..50964577 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1272G>T (p.Leu424=) |
single nucleotide variant |
not provided [RCV001478024] |
Chr22:50526029 [GRCh38] Chr22:50964458 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.48T>G (p.Gly16=) |
single nucleotide variant |
not provided [RCV001484861] |
Chr22:50529662 [GRCh38] Chr22:50968091 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1056G>A (p.Val352=) |
single nucleotide variant |
not provided [RCV001497687] |
Chr22:50526349 [GRCh38] Chr22:50964778 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1188G>A (p.Pro396=) |
single nucleotide variant |
not provided [RCV001432021] |
Chr22:50526113 [GRCh38] Chr22:50964542 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.624G>A (p.Val208=) |
single nucleotide variant |
not provided [RCV001434236] |
Chr22:50527610 [GRCh38] Chr22:50966039 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1122C>G (p.Arg374=) |
single nucleotide variant |
not provided [RCV001451735] |
Chr22:50526283 [GRCh38] Chr22:50964712 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.646+8G>T |
single nucleotide variant |
not provided [RCV001505197] |
Chr22:50527580 [GRCh38] Chr22:50966009 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1269G>A (p.Leu423=) |
single nucleotide variant |
not provided [RCV001476711] |
Chr22:50526032 [GRCh38] Chr22:50964461 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1301-4G>C |
single nucleotide variant |
not provided [RCV001453581] |
Chr22:50525922 [GRCh38] Chr22:50964351 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.90G>T (p.Ser30=) |
single nucleotide variant |
not provided [RCV001451895] |
Chr22:50529620 [GRCh38] Chr22:50968049 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.417+10C>T |
single nucleotide variant |
not provided [RCV001427588] |
Chr22:50529126 [GRCh38] Chr22:50967555 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.618C>T (p.Ala206=) |
single nucleotide variant |
not provided [RCV001503856] |
Chr22:50527616 [GRCh38] Chr22:50966045 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.267G>C (p.Ser89=) |
single nucleotide variant |
not provided [RCV001416415] |
Chr22:50529286 [GRCh38] Chr22:50967715 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1224_1225insT (p.Ser409Ter) |
insertion |
not provided [RCV001386342] |
Chr22:50526076..50526077 [GRCh38] Chr22:50964505..50964506 [GRCh37] Chr22:22q13.33 |
pathogenic |
NC_000022.10:g.(?_50297466)_(51066227_?)del |
deletion |
ALG12-congenital disorder of glycosylation [RCV001384242] |
Chr22:50297466..51066227 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1275C>A (p.Val425=) |
single nucleotide variant |
not provided [RCV001495063] |
Chr22:50526026 [GRCh38] Chr22:50964455 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.516+8G>A |
single nucleotide variant |
not provided [RCV001504201] |
Chr22:50528504 [GRCh38] Chr22:50966933 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.726C>T (p.Phe242=) |
single nucleotide variant |
not provided [RCV001477146] |
Chr22:50527204 [GRCh38] Chr22:50965633 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1428C>T (p.Leu476=) |
single nucleotide variant |
not provided [RCV001495378] |
Chr22:50525791 [GRCh38] Chr22:50964220 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002272908] |
Chr22:50526296 [GRCh38] Chr22:50964725 [GRCh37] Chr22:22q13.33 |
uncertain significance |
Single allele |
duplication |
Chromosome 22q13 duplication syndrome [RCV002280361] |
Chr22:49883237..50740457 [GRCh38] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.121C>G (p.Arg41Gly) |
single nucleotide variant |
not provided [RCV001771590] |
Chr22:50529589 [GRCh38] Chr22:50968018 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV001783996]|not provided [RCV002034609] |
Chr22:50526695 [GRCh38] Chr22:50965124 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 |
copy number loss |
not provided [RCV001795845] |
Chr22:47554026..51186813 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
NM_001953.5(TYMP):c.1142T>G (p.Leu381Arg) |
single nucleotide variant |
not provided [RCV001770621] |
Chr22:50526263 [GRCh38] Chr22:50964692 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1286A>T (p.Gln429Leu) |
single nucleotide variant |
not provided [RCV001774669] |
Chr22:50526015 [GRCh38] Chr22:50964444 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.516+1G>C |
single nucleotide variant |
not provided [RCV003709117] |
Chr22:50528511 [GRCh38] Chr22:50966940 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.729del (p.Asn244fs) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV003464137]|not provided [RCV002034576] |
Chr22:50527201 [GRCh38] Chr22:50965630 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 |
copy number loss |
Phelan-McDermid syndrome [RCV001801178] |
Chr22:42321321..51244066 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
NM_001953.5(TYMP):c.862G>A (p.Glu288Lys) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002503214]|not provided [RCV001767797] |
Chr22:50526642 [GRCh38] Chr22:50965071 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) |
deletion |
Mitochondrial DNA depletion syndrome 1 [RCV001805744] |
Chr22:50526098..50526103 [GRCh38] Chr22:50964527..50964532 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.908G>A (p.Arg303Lys) |
single nucleotide variant |
not provided [RCV001949821] |
Chr22:50526596 [GRCh38] Chr22:50965025 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NC_000022.10:g.(?_50167881)_(51066207_?)dup |
duplication |
ALG12-congenital disorder of glycosylation [RCV001950618] |
Chr22:50167881..51066207 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.736G>A (p.Glu246Lys) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002482771]|not provided [RCV001896627] |
Chr22:50527194 [GRCh38] Chr22:50965623 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.577C>T (p.Pro193Ser) |
single nucleotide variant |
not provided [RCV001988067] |
Chr22:50527657 [GRCh38] Chr22:50966086 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.319G>A (p.Ala107Thr) |
single nucleotide variant |
not provided [RCV002008671] |
Chr22:50529234 [GRCh38] Chr22:50967663 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.647-1G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV004571893]|not provided [RCV002003360] |
Chr22:50527284 [GRCh38] Chr22:50965713 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NC_000022.10:g.(?_50885571)_(50965732_?)dup |
duplication |
not provided [RCV002020698] |
Chr22:50885571..50965732 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.33(chr22:49729747-51197838) |
copy number loss |
not specified [RCV002052764] |
Chr22:49729747..51197838 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.593T>C (p.Leu198Pro) |
single nucleotide variant |
not provided [RCV001910763] |
Chr22:50527641 [GRCh38] Chr22:50966070 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1251G>A (p.Leu417=) |
single nucleotide variant |
not provided [RCV002035144] |
Chr22:50526050 [GRCh38] Chr22:50964479 [GRCh37] Chr22:22q13.33 |
likely benign |
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 |
copy number loss |
not provided [RCV001832912] |
Chr22:47567951..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
NM_001953.5(TYMP):c.1254G>A (p.Gly418=) |
single nucleotide variant |
not provided [RCV002037832] |
Chr22:50526047 [GRCh38] Chr22:50964476 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.694dup (p.Val232fs) |
duplication |
not provided [RCV001872978] |
Chr22:50527235..50527236 [GRCh38] Chr22:50965664..50965665 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.857_858insT (p.Glu286fs) |
insertion |
not provided [RCV001970155] |
Chr22:50526646..50526647 [GRCh38] Chr22:50965075..50965076 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1279G>C (p.Val427Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003170161]|not provided [RCV002007113] |
Chr22:50526022 [GRCh38] Chr22:50964451 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.214+1G>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002498041]|not provided [RCV002040737] |
Chr22:50529495 [GRCh38] Chr22:50967924 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.178G>A (p.Ala60Thr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002507657]|not provided [RCV001969969] |
Chr22:50529532 [GRCh38] Chr22:50967961 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
not provided [RCV001912244] |
Chr22:50529706 [GRCh38] Chr22:50968135 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.750G>A (p.Glu250=) |
single nucleotide variant |
TYMP-related disorder [RCV003892916]|not provided [RCV001890514] |
Chr22:50527180 [GRCh38] Chr22:50965609 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.861_862dup (p.Glu288fs) |
duplication |
not provided [RCV002007349] |
Chr22:50526641..50526642 [GRCh38] Chr22:50965070..50965071 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.977G>T (p.Gly326Val) |
single nucleotide variant |
not provided [RCV002040698] |
Chr22:50526428 [GRCh38] Chr22:50964857 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1310G>A (p.Trp437Ter) |
single nucleotide variant |
not provided [RCV002016630] |
Chr22:50525909 [GRCh38] Chr22:50964338 [GRCh37] Chr22:22q13.33 |
pathogenic|uncertain significance |
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) |
copy number loss |
not specified [RCV002052757] |
Chr22:42972719..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
NC_000022.10:g.(?_50502853)_(51066207_?)dup |
duplication |
not provided [RCV001944250] |
Chr22:50502853..51066207 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV003147714]|not provided [RCV001950980] |
Chr22:50529318 [GRCh38] Chr22:50967747 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.1336G>A (p.Ala446Thr) |
single nucleotide variant |
not provided [RCV001886587] |
Chr22:50525883 [GRCh38] Chr22:50964312 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NC_000022.10:g.(?_50906785)_(51066207_?)dup |
duplication |
Metachromatic leukodystrophy [RCV001900243] |
Chr22:50906785..51066207 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1237G>C (p.Glu413Gln) |
single nucleotide variant |
not provided [RCV001926103] |
Chr22:50526064 [GRCh38] Chr22:50964493 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1325G>A (p.Arg442Gln) |
single nucleotide variant |
not provided [RCV001981956] |
Chr22:50525894 [GRCh38] Chr22:50964323 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1298G>T (p.Arg433Leu) |
single nucleotide variant |
not provided [RCV001989132] |
Chr22:50526003 [GRCh38] Chr22:50964432 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1330_1351del (p.Gly444fs) |
deletion |
not provided [RCV001989762] |
Chr22:50525868..50525889 [GRCh38] Chr22:50964297..50964318 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.773T>C (p.Val258Ala) |
single nucleotide variant |
not provided [RCV002027411] |
Chr22:50526731 [GRCh38] Chr22:50965160 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NC_000022.10:g.(?_50885571)_(51021210_?)del |
deletion |
Megaconial type congenital muscular dystrophy [RCV001918329] |
Chr22:50885571..51021210 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1429G>A (p.Val477Ile) |
single nucleotide variant |
not provided [RCV001913483] |
Chr22:50525790 [GRCh38] Chr22:50964219 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.28G>A (p.Gly10Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004042571]|not provided [RCV001898753] |
Chr22:50529682 [GRCh38] Chr22:50968111 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.937C>G (p.Leu313Val) |
single nucleotide variant |
not provided [RCV001978410] |
Chr22:50526468 [GRCh38] Chr22:50964897 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1062dup (p.Gly355fs) |
duplication |
not provided [RCV001891615] |
Chr22:50526342..50526343 [GRCh38] Chr22:50964771..50964772 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.559C>T (p.Gln187Ter) |
single nucleotide variant |
not provided [RCV001884960] |
Chr22:50527675 [GRCh38] Chr22:50966104 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.772G>A (p.Val258Met) |
single nucleotide variant |
not provided [RCV001886232] |
Chr22:50526732 [GRCh38] Chr22:50965161 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1128_1153del (p.Glu377fs) |
deletion |
TYMP-related disorder [RCV003401967]|not provided [RCV001942329] |
Chr22:50526252..50526277 [GRCh38] Chr22:50964681..50964706 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.136G>T (p.Gly46Ter) |
single nucleotide variant |
not provided [RCV001921206] |
Chr22:50529574 [GRCh38] Chr22:50968003 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.647-5C>A |
single nucleotide variant |
not provided [RCV001990015] |
Chr22:50527288 [GRCh38] Chr22:50965717 [GRCh37] Chr22:22q13.33 |
likely benign|uncertain significance |
NM_001953.5(TYMP):c.164G>A (p.Arg55Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002554316]|not provided [RCV001917661] |
Chr22:50529546 [GRCh38] Chr22:50967975 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.199C>T (p.Gln67Ter) |
single nucleotide variant |
not provided [RCV001918670] |
Chr22:50529511 [GRCh38] Chr22:50967940 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1156G>T (p.Asp386Tyr) |
single nucleotide variant |
not provided [RCV001944252] |
Chr22:50526249 [GRCh38] Chr22:50964678 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1398A>C (p.Pro466=) |
single nucleotide variant |
not provided [RCV002079530] |
Chr22:50525821 [GRCh38] Chr22:50964250 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1215G>A (p.Gly405=) |
single nucleotide variant |
not provided [RCV002201087] |
Chr22:50526086 [GRCh38] Chr22:50964515 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.978C>T (p.Gly326=) |
single nucleotide variant |
not provided [RCV002111030] |
Chr22:50526427 [GRCh38] Chr22:50964856 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1239G>A (p.Glu413=) |
single nucleotide variant |
not provided [RCV002201013] |
Chr22:50526062 [GRCh38] Chr22:50964491 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1236G>A (p.Gly412=) |
single nucleotide variant |
not provided [RCV002089294] |
Chr22:50526065 [GRCh38] Chr22:50964494 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1301-10C>T |
single nucleotide variant |
not provided [RCV002210677] |
Chr22:50525928 [GRCh38] Chr22:50964357 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.929-22_929-6dup |
duplication |
not provided [RCV002090245] |
Chr22:50526481..50526482 [GRCh38] Chr22:50964910..50964911 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+14dup |
duplication |
not provided [RCV002098093] |
Chr22:50526231..50526232 [GRCh38] Chr22:50964660..50964661 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.411C>T (p.Gly137=) |
single nucleotide variant |
not provided [RCV002092247] |
Chr22:50529142 [GRCh38] Chr22:50967571 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1218C>T (p.Ala406=) |
single nucleotide variant |
not provided [RCV002115639] |
Chr22:50526083 [GRCh38] Chr22:50964512 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.258G>A (p.Glu86=) |
single nucleotide variant |
not provided [RCV002127732] |
Chr22:50529295 [GRCh38] Chr22:50967724 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1212C>T (p.Leu404=) |
single nucleotide variant |
not provided [RCV002127918] |
Chr22:50526089 [GRCh38] Chr22:50964518 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.612G>A (p.Val204=) |
single nucleotide variant |
not provided [RCV002169275] |
Chr22:50527622 [GRCh38] Chr22:50966051 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-8C>A |
single nucleotide variant |
not provided [RCV002147271] |
Chr22:50526149 [GRCh38] Chr22:50964578 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.561G>A (p.Gln187=) |
single nucleotide variant |
not provided [RCV002085037] |
Chr22:50527673 [GRCh38] Chr22:50966102 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1437G>A (p.Pro479=) |
single nucleotide variant |
not provided [RCV002079389] |
Chr22:50525782 [GRCh38] Chr22:50964211 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.162C>A (p.Ile54=) |
single nucleotide variant |
not provided [RCV002206482] |
Chr22:50529548 [GRCh38] Chr22:50967977 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.924G>A (p.Thr308=) |
single nucleotide variant |
not provided [RCV002149238] |
Chr22:50526580 [GRCh38] Chr22:50965009 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.18C>T (p.Thr6=) |
single nucleotide variant |
not provided [RCV002087332] |
Chr22:50529692 [GRCh38] Chr22:50968121 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1227C>T (p.Ser409=) |
single nucleotide variant |
not provided [RCV002094657] |
Chr22:50526074 [GRCh38] Chr22:50964503 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.687T>C (p.Ala229=) |
single nucleotide variant |
not provided [RCV002191155] |
Chr22:50527243 [GRCh38] Chr22:50965672 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1305C>T (p.Thr435=) |
single nucleotide variant |
not provided [RCV002125572] |
Chr22:50525914 [GRCh38] Chr22:50964343 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.766-5C>T |
single nucleotide variant |
not provided [RCV002107480] |
Chr22:50526743 [GRCh38] Chr22:50965172 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.647-18C>T |
single nucleotide variant |
not provided [RCV002087983] |
Chr22:50527301 [GRCh38] Chr22:50965730 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-13C>T |
single nucleotide variant |
not provided [RCV002148128] |
Chr22:50526154 [GRCh38] Chr22:50964583 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1335C>G (p.Pro445=) |
single nucleotide variant |
not provided [RCV002163083] |
Chr22:50525884 [GRCh38] Chr22:50964313 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-9T>C |
single nucleotide variant |
not provided [RCV002159462] |
Chr22:50526150 [GRCh38] Chr22:50964579 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1446A>G (p.Gln482=) |
single nucleotide variant |
not provided [RCV002162497] |
Chr22:50525773 [GRCh38] Chr22:50964202 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+8G>A |
single nucleotide variant |
not provided [RCV002087254] |
Chr22:50526568 [GRCh38] Chr22:50964997 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.708C>T (p.Phe236=) |
single nucleotide variant |
not provided [RCV002074809] |
Chr22:50527222 [GRCh38] Chr22:50965651 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-12dup |
duplication |
not provided [RCV002089306] |
Chr22:50526152..50526153 [GRCh38] Chr22:50964581..50964582 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1344C>T (p.Ser448=) |
single nucleotide variant |
not provided [RCV002172814] |
Chr22:50525875 [GRCh38] Chr22:50964304 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1300+14C>A |
single nucleotide variant |
not provided [RCV002180030] |
Chr22:50525987 [GRCh38] Chr22:50964416 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.810G>A (p.Leu270=) |
single nucleotide variant |
not provided [RCV002209512] |
Chr22:50526694 [GRCh38] Chr22:50965123 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+11G>A |
single nucleotide variant |
not provided [RCV002100970] |
Chr22:50526235 [GRCh38] Chr22:50964664 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1146G>T (p.Leu382=) |
single nucleotide variant |
not provided [RCV002078716] |
Chr22:50526259 [GRCh38] Chr22:50964688 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.929-7C>T |
single nucleotide variant |
not provided [RCV002075204] |
Chr22:50526483 [GRCh38] Chr22:50964912 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1368G>A (p.Gln456=) |
single nucleotide variant |
not provided [RCV002071644] |
Chr22:50525851 [GRCh38] Chr22:50964280 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1203G>A (p.Leu401=) |
single nucleotide variant |
not provided [RCV002196266] |
Chr22:50526098 [GRCh38] Chr22:50964527 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.516+16G>A |
single nucleotide variant |
not provided [RCV002191764] |
Chr22:50528496 [GRCh38] Chr22:50966925 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1300+10G>A |
single nucleotide variant |
not provided [RCV002201567] |
Chr22:50525991 [GRCh38] Chr22:50964420 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1113G>A (p.Leu371=) |
single nucleotide variant |
not provided [RCV002201994] |
Chr22:50526292 [GRCh38] Chr22:50964721 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.876C>G (p.Leu292=) |
single nucleotide variant |
not provided [RCV002205867] |
Chr22:50526628 [GRCh38] Chr22:50965057 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.387C>G (p.Leu129=) |
single nucleotide variant |
not provided [RCV002075485] |
Chr22:50529166 [GRCh38] Chr22:50967595 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.747G>C (p.Arg249=) |
single nucleotide variant |
not provided [RCV002152254] |
Chr22:50527183 [GRCh38] Chr22:50965612 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.517-18C>T |
single nucleotide variant |
not provided [RCV002152400] |
Chr22:50527735 [GRCh38] Chr22:50966164 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1301-4G>A |
single nucleotide variant |
not provided [RCV002147111] |
Chr22:50525922 [GRCh38] Chr22:50964351 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.939G>A (p.Leu313=) |
single nucleotide variant |
not provided [RCV002174318] |
Chr22:50526466 [GRCh38] Chr22:50964895 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.234C>T (p.Ile78=) |
single nucleotide variant |
not provided [RCV002114311] |
Chr22:50529319 [GRCh38] Chr22:50967748 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.954A>G (p.Gly318=) |
single nucleotide variant |
not provided [RCV002151454] |
Chr22:50526451 [GRCh38] Chr22:50964880 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.765+8G>C |
single nucleotide variant |
not provided [RCV002133193] |
Chr22:50527157 [GRCh38] Chr22:50965586 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1176C>G (p.Val392=) |
single nucleotide variant |
not provided [RCV002102022] |
Chr22:50526125 [GRCh38] Chr22:50964554 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.171C>T (p.Phe57=) |
single nucleotide variant |
TYMP-related disorder [RCV003893197]|not provided [RCV002214594] |
Chr22:50529539 [GRCh38] Chr22:50967968 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.93A>G (p.Pro31=) |
single nucleotide variant |
not provided [RCV002134216] |
Chr22:50529617 [GRCh38] Chr22:50968046 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.543C>G (p.Gly181=) |
single nucleotide variant |
not provided [RCV002165245] |
Chr22:50527691 [GRCh38] Chr22:50966120 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-14C>T |
single nucleotide variant |
not provided [RCV002105325] |
Chr22:50526155 [GRCh38] Chr22:50964584 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.316G>C (p.Glu106Gln) |
single nucleotide variant |
not provided [RCV002134207] |
Chr22:50529237 [GRCh38] Chr22:50967666 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.369C>T (p.Asp123=) |
single nucleotide variant |
not provided [RCV002084614] |
Chr22:50529184 [GRCh38] Chr22:50967613 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1146G>A (p.Leu382=) |
single nucleotide variant |
not provided [RCV002168722] |
Chr22:50526259 [GRCh38] Chr22:50964688 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1131G>A (p.Glu377=) |
single nucleotide variant |
not provided [RCV002169503] |
Chr22:50526274 [GRCh38] Chr22:50964703 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.45T>C (p.Pro15=) |
single nucleotide variant |
not provided [RCV002079042] |
Chr22:50529665 [GRCh38] Chr22:50968094 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.647-6C>T |
single nucleotide variant |
not provided [RCV002194850] |
Chr22:50527289 [GRCh38] Chr22:50965718 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.418-9G>C |
single nucleotide variant |
not provided [RCV002195836] |
Chr22:50528619 [GRCh38] Chr22:50967048 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.909G>A (p.Arg303=) |
single nucleotide variant |
not provided [RCV002089981] |
Chr22:50526595 [GRCh38] Chr22:50965024 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.215-10del |
deletion |
not provided [RCV002129608] |
Chr22:50529348 [GRCh38] Chr22:50967777 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1062C>T (p.Pro354=) |
single nucleotide variant |
not provided [RCV002211914] |
Chr22:50526343 [GRCh38] Chr22:50964772 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.264C>A (p.Thr88=) |
single nucleotide variant |
not provided [RCV002215544] |
Chr22:50529289 [GRCh38] Chr22:50967718 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+14G>T |
single nucleotide variant |
not provided [RCV002103391] |
Chr22:50526232 [GRCh38] Chr22:50964661 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.929-11C>A |
single nucleotide variant |
not provided [RCV002134816] |
Chr22:50526487 [GRCh38] Chr22:50964916 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.829C>T (p.Leu277=) |
single nucleotide variant |
not provided [RCV002097141] |
Chr22:50526675 [GRCh38] Chr22:50965104 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.870G>A (p.Ala290=) |
single nucleotide variant |
not provided [RCV002180932] |
Chr22:50526634 [GRCh38] Chr22:50965063 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.381G>A (p.Leu127=) |
single nucleotide variant |
not provided [RCV002176289] |
Chr22:50529172 [GRCh38] Chr22:50967601 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.741G>A (p.Gln247=) |
single nucleotide variant |
not provided [RCV002182009] |
Chr22:50527189 [GRCh38] Chr22:50965618 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.876C>T (p.Leu292=) |
single nucleotide variant |
not provided [RCV002204675] |
Chr22:50526628 [GRCh38] Chr22:50965057 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.42G>A (p.Ala14=) |
single nucleotide variant |
not provided [RCV002176649] |
Chr22:50529668 [GRCh38] Chr22:50968097 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.27C>T (p.Thr9=) |
single nucleotide variant |
not provided [RCV002180549] |
Chr22:50529683 [GRCh38] Chr22:50968112 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.486T>C (p.Pro162=) |
single nucleotide variant |
not provided [RCV002220081] |
Chr22:50528542 [GRCh38] Chr22:50966971 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.813C>A (p.Thr271=) |
single nucleotide variant |
not provided [RCV002139024] |
Chr22:50526691 [GRCh38] Chr22:50965120 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.345G>A (p.Lys115=) |
single nucleotide variant |
not provided [RCV002156205] |
Chr22:50529208 [GRCh38] Chr22:50967637 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.300G>A (p.Gln100=) |
single nucleotide variant |
not provided [RCV002177615] |
Chr22:50529253 [GRCh38] Chr22:50967682 [GRCh37] Chr22:22q13.33 |
likely benign |
Single allele |
duplication |
not provided [RCV002227667] |
Chr22:50023390..50594061 [GRCh38] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.937C>T (p.Leu313=) |
single nucleotide variant |
not provided [RCV002198988] |
Chr22:50526468 [GRCh38] Chr22:50964897 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.177C>G (p.Ala59=) |
single nucleotide variant |
not provided [RCV002176690] |
Chr22:50529533 [GRCh38] Chr22:50967962 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.278A>T (p.Gln93Leu) |
single nucleotide variant |
not provided [RCV002254446] |
Chr22:50529275 [GRCh38] Chr22:50967704 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.864G>A (p.Glu288=) |
single nucleotide variant |
not provided [RCV002099300] |
Chr22:50526640 [GRCh38] Chr22:50965069 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.252T>C (p.Asp84=) |
single nucleotide variant |
not provided [RCV002218246] |
Chr22:50529301 [GRCh38] Chr22:50967730 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.396C>G (p.Ala132=) |
single nucleotide variant |
not provided [RCV002162854] |
Chr22:50529157 [GRCh38] Chr22:50967586 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.684C>G (p.Ser228=) |
single nucleotide variant |
not provided [RCV002218415] |
Chr22:50527246 [GRCh38] Chr22:50965675 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.418-10T>C |
single nucleotide variant |
not provided [RCV002162966] |
Chr22:50528620 [GRCh38] Chr22:50967049 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+9G>A |
single nucleotide variant |
not provided [RCV002098188] |
Chr22:50526567 [GRCh38] Chr22:50964996 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.885C>T (p.Asp295=) |
single nucleotide variant |
not provided [RCV002141190] |
Chr22:50526619 [GRCh38] Chr22:50965048 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.360T>C (p.Gly120=) |
single nucleotide variant |
not provided [RCV002200756] |
Chr22:50529193 [GRCh38] Chr22:50967622 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.936C>T (p.Ala312=) |
single nucleotide variant |
not provided [RCV002119087] |
Chr22:50526469 [GRCh38] Chr22:50964898 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.789G>C (p.Gly263=) |
single nucleotide variant |
not provided [RCV002199975] |
Chr22:50526715 [GRCh38] Chr22:50965144 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.933C>A (p.Gly311=) |
single nucleotide variant |
not provided [RCV002183390] |
Chr22:50526472 [GRCh38] Chr22:50964901 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+9dup |
duplication |
not provided [RCV002141369] |
Chr22:50526566..50526567 [GRCh38] Chr22:50964995..50964996 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.724T>C (p.Phe242Leu) |
single nucleotide variant |
not provided [RCV004790898] |
Chr22:50527206 [GRCh38] Chr22:50965635 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.58G>A (p.Gly20Arg) |
single nucleotide variant |
not provided [RCV003110751] |
Chr22:50529652 [GRCh38] Chr22:50968081 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NC_000022.10:g.(?_50167881)_(51066207_?)del |
deletion |
Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] |
Chr22:50167881..51066207 [GRCh37] Chr22:22q13.33 |
pathogenic|no classifications from unflagged records |
NC_000022.10:g.(?_50297486)_(51066207_?)del |
deletion |
not provided [RCV003116314] |
Chr22:50297486..51066207 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.372G>C (p.Lys124Asn) |
single nucleotide variant |
not provided [RCV003121453] |
Chr22:50529181 [GRCh38] Chr22:50967610 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.33(chr22:49602454-51183869) |
copy number loss |
Phelan-McDermid syndrome [RCV002280637] |
Chr22:49602454..51183869 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002272943] |
Chr22:50527235 [GRCh38] Chr22:50965664 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.752T>C (p.Leu251Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002289355] |
Chr22:50527178 [GRCh38] Chr22:50965607 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.890C>A (p.Ala297Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003295371] |
Chr22:50526614 [GRCh38] Chr22:50965043 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1187C>T (p.Pro396Leu) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002284032] |
Chr22:50526114 [GRCh38] Chr22:50964543 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.829dup (p.Leu277fs) |
duplication |
Mitochondrial DNA depletion syndrome 1 [RCV002282855] |
Chr22:50526674..50526675 [GRCh38] Chr22:50965103..50965104 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002471686]|not provided [RCV004785732] |
Chr22:50525775 [GRCh38] Chr22:50964204 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 |
copy number loss |
not provided [RCV002472623] |
Chr22:44178749..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 |
copy number loss |
not provided [RCV002472642] |
Chr22:45977448..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 |
copy number loss |
not provided [RCV002472654] |
Chr22:45977415..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
NM_001953.5(TYMP):c.739C>T (p.Gln247Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV004571218]|not provided [RCV002726776] |
Chr22:50527191 [GRCh38] Chr22:50965620 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 |
copy number gain |
not provided [RCV002468433] |
Chr22:43436847..51188164 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV002468811]|not provided [RCV002573597] |
Chr22:50529230 [GRCh38] Chr22:50967659 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.1300+2T>C |
single nucleotide variant |
not provided [RCV002750481] |
Chr22:50525999 [GRCh38] Chr22:50964428 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1338G>A (p.Ala446=) |
single nucleotide variant |
not provided [RCV002880510] |
Chr22:50525881 [GRCh38] Chr22:50964310 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.83_90dup (p.Pro31fs) |
duplication |
not provided [RCV002816330] |
Chr22:50529619..50529620 [GRCh38] Chr22:50968048..50968049 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.215-4C>T |
single nucleotide variant |
not provided [RCV002750976] |
Chr22:50529342 [GRCh38] Chr22:50967771 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.161T>A (p.Ile54Asn) |
single nucleotide variant |
not provided [RCV003014228] |
Chr22:50529549 [GRCh38] Chr22:50967978 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.928+1G>C |
single nucleotide variant |
not provided [RCV002880904] |
Chr22:50526575 [GRCh38] Chr22:50965004 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.784C>G (p.Leu262Val) |
single nucleotide variant |
not provided [RCV002686214] |
Chr22:50526720 [GRCh38] Chr22:50965149 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.245dup (p.Met83fs) |
duplication |
not provided [RCV002880462] |
Chr22:50529307..50529308 [GRCh38] Chr22:50967736..50967737 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1174G>C (p.Val392Leu) |
single nucleotide variant |
not provided [RCV003076125] |
Chr22:50526127 [GRCh38] Chr22:50964556 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.928+12G>C |
single nucleotide variant |
not provided [RCV002618886] |
Chr22:50526564 [GRCh38] Chr22:50964993 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.261G>A (p.Glu87=) |
single nucleotide variant |
not provided [RCV002866011] |
Chr22:50529292 [GRCh38] Chr22:50967721 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1200G>A (p.Val400=) |
single nucleotide variant |
not provided [RCV003034730] |
Chr22:50526101 [GRCh38] Chr22:50964530 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.234C>G (p.Ile78Met) |
single nucleotide variant |
not provided [RCV002730895] |
Chr22:50529319 [GRCh38] Chr22:50967748 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.215-6T>A |
single nucleotide variant |
not provided [RCV003016944] |
Chr22:50529344 [GRCh38] Chr22:50967773 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.623T>C (p.Val208Ala) |
single nucleotide variant |
not provided [RCV002819840] |
Chr22:50527611 [GRCh38] Chr22:50966040 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.929-14G>A |
single nucleotide variant |
not provided [RCV003076820] |
Chr22:50526490 [GRCh38] Chr22:50964919 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.214+4C>G |
single nucleotide variant |
not provided [RCV002795031] |
Chr22:50529492 [GRCh38] Chr22:50967921 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.56C>T (p.Ser19Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002865032] |
Chr22:50529654 [GRCh38] Chr22:50968083 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1208A>G (p.Glu403Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002883714] |
Chr22:50526093 [GRCh38] Chr22:50964522 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1247G>A (p.Arg416His) |
single nucleotide variant |
not provided [RCV002618705] |
Chr22:50526054 [GRCh38] Chr22:50964483 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.54C>T (p.Phe18=) |
single nucleotide variant |
not provided [RCV002843825] |
Chr22:50529656 [GRCh38] Chr22:50968085 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.959C>G (p.Ala320Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002883444] |
Chr22:50526446 [GRCh38] Chr22:50964875 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.766-1G>A |
single nucleotide variant |
not provided [RCV002967519] |
Chr22:50526739 [GRCh38] Chr22:50965168 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.1160-6C>G |
single nucleotide variant |
not provided [RCV002618793] |
Chr22:50526147 [GRCh38] Chr22:50964576 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1074A>C (p.Arg358=) |
single nucleotide variant |
not provided [RCV002970827] |
Chr22:50526331 [GRCh38] Chr22:50964760 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1416C>A (p.Pro472=) |
single nucleotide variant |
not provided [RCV003012116] |
Chr22:50525803 [GRCh38] Chr22:50964232 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.897_898del (p.Pro300fs) |
deletion |
not provided [RCV002816186] |
Chr22:50526606..50526607 [GRCh38] Chr22:50965035..50965036 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.985C>A (p.Arg329=) |
single nucleotide variant |
not provided [RCV003013235] |
Chr22:50526420 [GRCh38] Chr22:50964849 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.955C>T (p.His319Tyr) |
single nucleotide variant |
not provided [RCV002861599] |
Chr22:50526450 [GRCh38] Chr22:50964879 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.517-8C>T |
single nucleotide variant |
not provided [RCV003032799] |
Chr22:50527725 [GRCh38] Chr22:50966154 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.827C>T (p.Pro276Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003384327]|not provided [RCV003075870] |
Chr22:50526677 [GRCh38] Chr22:50965106 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.647-12C>T |
single nucleotide variant |
not provided [RCV003076374] |
Chr22:50527295 [GRCh38] Chr22:50965724 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.942C>T (p.Leu314=) |
single nucleotide variant |
not provided [RCV002819838] |
Chr22:50526463 [GRCh38] Chr22:50964892 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1284T>C (p.Gly428=) |
single nucleotide variant |
not provided [RCV002615247] |
Chr22:50526017 [GRCh38] Chr22:50964446 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1421C>T (p.Ala474Val) |
single nucleotide variant |
not provided [RCV002755602] |
Chr22:50525798 [GRCh38] Chr22:50964227 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.646+13C>T |
single nucleotide variant |
not provided [RCV002785686] |
Chr22:50527575 [GRCh38] Chr22:50966004 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1395G>C (p.Ala465=) |
single nucleotide variant |
not provided [RCV003021850] |
Chr22:50525824 [GRCh38] Chr22:50964253 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.990G>T (p.Val330=) |
single nucleotide variant |
not provided [RCV002825414] |
Chr22:50526415 [GRCh38] Chr22:50964844 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-5C>T |
single nucleotide variant |
not provided [RCV002800540] |
Chr22:50526146 [GRCh38] Chr22:50964575 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.765+20C>G |
single nucleotide variant |
not provided [RCV002706671] |
Chr22:50527145 [GRCh38] Chr22:50965574 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1428C>G (p.Leu476=) |
single nucleotide variant |
not provided [RCV002740347] |
Chr22:50525791 [GRCh38] Chr22:50964220 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.717C>T (p.Ala239=) |
single nucleotide variant |
not provided [RCV002695200] |
Chr22:50527213 [GRCh38] Chr22:50965642 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.789G>T (p.Gly263=) |
single nucleotide variant |
not provided [RCV002800375] |
Chr22:50526715 [GRCh38] Chr22:50965144 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1270C>G (p.Leu424Val) |
single nucleotide variant |
not provided [RCV003038246] |
Chr22:50526031 [GRCh38] Chr22:50964460 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1300+4A>G |
single nucleotide variant |
not provided [RCV002622850] |
Chr22:50525997 [GRCh38] Chr22:50964426 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.975G>A (p.Gln325=) |
single nucleotide variant |
not provided [RCV003039223] |
Chr22:50526430 [GRCh38] Chr22:50964859 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1347C>T (p.Gly449=) |
single nucleotide variant |
not provided [RCV002786013] |
Chr22:50525872 [GRCh38] Chr22:50964301 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.961G>A (p.Gly321Arg) |
single nucleotide variant |
not provided [RCV002756947] |
Chr22:50526444 [GRCh38] Chr22:50964873 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1159+2T>C |
single nucleotide variant |
not provided [RCV002591310] |
Chr22:50526244 [GRCh38] Chr22:50964673 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.208_209del (p.Gln70fs) |
microsatellite |
not provided [RCV003035452] |
Chr22:50529501..50529502 [GRCh38] Chr22:50967930..50967931 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1385C>G (p.Ser462Cys) |
single nucleotide variant |
not provided [RCV002659473] |
Chr22:50525834 [GRCh38] Chr22:50964263 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.774G>C (p.Val258=) |
single nucleotide variant |
not provided [RCV003054143] |
Chr22:50526730 [GRCh38] Chr22:50965159 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1304C>T (p.Thr435Ile) |
single nucleotide variant |
not provided [RCV003080011] |
Chr22:50525915 [GRCh38] Chr22:50964344 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1110_1111delinsTT (p.Gln370His) |
indel |
not provided [RCV002638287] |
Chr22:50526294..50526295 [GRCh38] Chr22:50964723..50964724 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.438T>A (p.Arg146=) |
single nucleotide variant |
not provided [RCV003019897] |
Chr22:50528590 [GRCh38] Chr22:50967019 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.788G>A (p.Gly263Glu) |
single nucleotide variant |
not provided [RCV002909216] |
Chr22:50526716 [GRCh38] Chr22:50965145 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.672G>C (p.Val224=) |
single nucleotide variant |
not provided [RCV003017968] |
Chr22:50527258 [GRCh38] Chr22:50965687 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.646+2T>C |
single nucleotide variant |
not provided [RCV002797039] |
Chr22:50527586 [GRCh38] Chr22:50966015 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.1249C>G (p.Leu417Val) |
single nucleotide variant |
not provided [RCV002953316] |
Chr22:50526052 [GRCh38] Chr22:50964481 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1381C>G (p.Leu461Val) |
single nucleotide variant |
not provided [RCV003052891] |
Chr22:50525838 [GRCh38] Chr22:50964267 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.255G>A (p.Leu85=) |
single nucleotide variant |
not provided [RCV002621220] |
Chr22:50529298 [GRCh38] Chr22:50967727 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1252G>A (p.Gly418Arg) |
single nucleotide variant |
not provided [RCV002592797] |
Chr22:50526049 [GRCh38] Chr22:50964478 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.516+18T>C |
single nucleotide variant |
not provided [RCV003019099] |
Chr22:50528494 [GRCh38] Chr22:50966923 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1301-19dup |
duplication |
not provided [RCV003052938] |
Chr22:50525936..50525937 [GRCh38] Chr22:50964365..50964366 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.214+20C>T |
single nucleotide variant |
not provided [RCV002637887] |
Chr22:50529476 [GRCh38] Chr22:50967905 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1288_1289del (p.Arg430fs) |
microsatellite |
not provided [RCV002948761] |
Chr22:50526012..50526013 [GRCh38] Chr22:50964441..50964442 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1399T>C (p.Phe467Leu) |
single nucleotide variant |
not provided [RCV002706177] |
Chr22:50525820 [GRCh38] Chr22:50964249 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.822C>G (p.Asp274Glu) |
single nucleotide variant |
not provided [RCV002638440] |
Chr22:50526682 [GRCh38] Chr22:50965111 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1160-8_1190del |
deletion |
not provided [RCV002796575] |
Chr22:50526111..50526149 [GRCh38] Chr22:50964540..50964578 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.372G>A (p.Lys124=) |
single nucleotide variant |
not provided [RCV002886061] |
Chr22:50529181 [GRCh38] Chr22:50967610 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1326G>A (p.Arg442=) |
single nucleotide variant |
not provided [RCV003077143] |
Chr22:50525893 [GRCh38] Chr22:50964322 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.516+4C>A |
single nucleotide variant |
not provided [RCV003080273] |
Chr22:50528508 [GRCh38] Chr22:50966937 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.920C>T (p.Thr307Ile) |
single nucleotide variant |
not provided [RCV002639807] |
Chr22:50526584 [GRCh38] Chr22:50965013 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1085C>T (p.Ser362Leu) |
single nucleotide variant |
not provided [RCV003007635] |
Chr22:50526320 [GRCh38] Chr22:50964749 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.325C>T (p.Arg109Cys) |
single nucleotide variant |
not provided [RCV002664001] |
Chr22:50529228 [GRCh38] Chr22:50967657 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.506G>C (p.Ser169Thr) |
single nucleotide variant |
not provided [RCV002701409] |
Chr22:50528522 [GRCh38] Chr22:50966951 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1329C>G (p.Asp443Glu) |
single nucleotide variant |
not provided [RCV002574342] |
Chr22:50525890 [GRCh38] Chr22:50964319 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.588A>C (p.Gly196=) |
single nucleotide variant |
not provided [RCV002576342] |
Chr22:50527646 [GRCh38] Chr22:50966075 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.231del (p.Ile78fs) |
deletion |
not provided [RCV002894338] |
Chr22:50529322 [GRCh38] Chr22:50967751 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.766-13C>G |
single nucleotide variant |
not provided [RCV003082450] |
Chr22:50526751 [GRCh38] Chr22:50965180 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.928+12G>T |
single nucleotide variant |
not provided [RCV002645679] |
Chr22:50526564 [GRCh38] Chr22:50964993 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1195C>T (p.Leu399=) |
single nucleotide variant |
not provided [RCV003025307] |
Chr22:50526106 [GRCh38] Chr22:50964535 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.52_53del (p.Phe18fs) |
deletion |
not provided [RCV002928908] |
Chr22:50529657..50529658 [GRCh38] Chr22:50968086..50968087 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1278C>T (p.Asp426=) |
single nucleotide variant |
not provided [RCV002985453] |
Chr22:50526023 [GRCh38] Chr22:50964452 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1017C>A (p.Ala339=) |
single nucleotide variant |
not provided [RCV002594512] |
Chr22:50526388 [GRCh38] Chr22:50964817 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.516+5G>A |
single nucleotide variant |
not provided [RCV002741903] |
Chr22:50528507 [GRCh38] Chr22:50966936 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1159+12G>T |
single nucleotide variant |
not provided [RCV003082106] |
Chr22:50526234 [GRCh38] Chr22:50964663 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1300+15C>T |
single nucleotide variant |
not provided [RCV002642260] |
Chr22:50525986 [GRCh38] Chr22:50964415 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.759G>C (p.Lys253Asn) |
single nucleotide variant |
not provided [RCV002643361] |
Chr22:50527171 [GRCh38] Chr22:50965600 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.721G>A (p.Val241Ile) |
single nucleotide variant |
not provided [RCV002643833] |
Chr22:50527209 [GRCh38] Chr22:50965638 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1181C>T (p.Ala394Val) |
single nucleotide variant |
not provided [RCV002711063] |
Chr22:50526120 [GRCh38] Chr22:50964549 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1134G>A (p.Gln378=) |
single nucleotide variant |
not provided [RCV003025638] |
Chr22:50526271 [GRCh38] Chr22:50964700 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1076C>T (p.Ala359Val) |
single nucleotide variant |
not provided [RCV002982559] |
Chr22:50526329 [GRCh38] Chr22:50964758 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.51C>T (p.Asp17=) |
single nucleotide variant |
not provided [RCV002574767] |
Chr22:50529659 [GRCh38] Chr22:50968088 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.766-1G>C |
single nucleotide variant |
not provided [RCV002852455] |
Chr22:50526739 [GRCh38] Chr22:50965168 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.1357dup (p.Arg453fs) |
duplication |
not provided [RCV003040048] |
Chr22:50525861..50525862 [GRCh38] Chr22:50964290..50964291 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.801G>A (p.Ala267=) |
single nucleotide variant |
not provided [RCV002643240] |
Chr22:50526703 [GRCh38] Chr22:50965132 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.26C>G (p.Thr9Ser) |
single nucleotide variant |
not provided [RCV003058521] |
Chr22:50529684 [GRCh38] Chr22:50968113 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1185G>T (p.Leu395=) |
single nucleotide variant |
not provided [RCV002894706] |
Chr22:50526116 [GRCh38] Chr22:50964545 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.581C>T (p.Ala194Val) |
single nucleotide variant |
not provided [RCV003084108] |
Chr22:50527653 [GRCh38] Chr22:50966082 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.96G>A (p.Glu32=) |
single nucleotide variant |
not provided [RCV002711097] |
Chr22:50529614 [GRCh38] Chr22:50968043 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.658A>G (p.Ser220Gly) |
single nucleotide variant |
not provided [RCV002745599] |
Chr22:50527272 [GRCh38] Chr22:50965701 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.11TGA[1] (p.Met5del) |
microsatellite |
not provided [RCV003057478] |
Chr22:50529694..50529696 [GRCh38] Chr22:50968123..50968125 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.719C>G (p.Ala240Gly) |
single nucleotide variant |
not provided [RCV002573707] |
Chr22:50527211 [GRCh38] Chr22:50965640 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.516+1G>T |
single nucleotide variant |
not provided [RCV002830212] |
Chr22:50528511 [GRCh38] Chr22:50966940 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.214+19G>C |
single nucleotide variant |
not provided [RCV002573670] |
Chr22:50529477 [GRCh38] Chr22:50967906 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.333G>A (p.Gln111=) |
single nucleotide variant |
not provided [RCV002851839] |
Chr22:50529220 [GRCh38] Chr22:50967649 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.998C>T (p.Ala333Val) |
single nucleotide variant |
not provided [RCV002852960] |
Chr22:50526407 [GRCh38] Chr22:50964836 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.963G>C (p.Gly321=) |
single nucleotide variant |
not provided [RCV002899984] |
Chr22:50526442 [GRCh38] Chr22:50964871 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1097C>T (p.Ala366Val) |
single nucleotide variant |
not provided [RCV003092058] |
Chr22:50526308 [GRCh38] Chr22:50964737 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1066C>T (p.Leu356=) |
single nucleotide variant |
not provided [RCV002962866] |
Chr22:50526339 [GRCh38] Chr22:50964768 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.778G>A (p.Ala260Thr) |
single nucleotide variant |
not provided [RCV002941929] |
Chr22:50526726 [GRCh38] Chr22:50965155 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.516+11C>T |
single nucleotide variant |
not provided [RCV003086281] |
Chr22:50528501 [GRCh38] Chr22:50966930 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.929-12C>T |
single nucleotide variant |
not provided [RCV002600802] |
Chr22:50526488 [GRCh38] Chr22:50964917 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1051G>A (p.Gly351Ser) |
single nucleotide variant |
not provided [RCV003049465] |
Chr22:50526354 [GRCh38] Chr22:50964783 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.213C>G (p.Ile71Met) |
single nucleotide variant |
not provided [RCV002942090] |
Chr22:50529497 [GRCh38] Chr22:50967926 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.30G>C (p.Gly10=) |
single nucleotide variant |
not provided [RCV003066061] |
Chr22:50529680 [GRCh38] Chr22:50968109 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1300+16G>A |
single nucleotide variant |
not provided [RCV003090191] |
Chr22:50525985 [GRCh38] Chr22:50964414 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.151G>A (p.Glu51Lys) |
single nucleotide variant |
not provided [RCV003061448] |
Chr22:50529559 [GRCh38] Chr22:50967988 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.220A>C (p.Met74Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002920677] |
Chr22:50529333 [GRCh38] Chr22:50967762 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1098A>G (p.Ala366=) |
single nucleotide variant |
not provided [RCV002806930] |
Chr22:50526307 [GRCh38] Chr22:50964736 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.417+15C>T |
single nucleotide variant |
not provided [RCV002632734] |
Chr22:50529121 [GRCh38] Chr22:50967550 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1041G>A (p.Leu347=) |
single nucleotide variant |
not provided [RCV003049204] |
Chr22:50526364 [GRCh38] Chr22:50964793 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.765+7G>C |
single nucleotide variant |
not provided [RCV002715871] |
Chr22:50527158 [GRCh38] Chr22:50965587 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1438C>G (p.Pro480Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004066861]|not provided [RCV002676384] |
Chr22:50525781 [GRCh38] Chr22:50964210 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.928+15del |
deletion |
not provided [RCV002716662] |
Chr22:50526561 [GRCh38] Chr22:50964990 [GRCh37] Chr22:22q13.33 |
benign |
NM_001953.5(TYMP):c.1327G>A (p.Asp443Asn) |
single nucleotide variant |
not provided [RCV002647757] |
Chr22:50525892 [GRCh38] Chr22:50964321 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1095C>T (p.Pro365=) |
single nucleotide variant |
not provided [RCV003046984] |
Chr22:50526310 [GRCh38] Chr22:50964739 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.108C>T (p.Leu36=) |
single nucleotide variant |
not provided [RCV002962833] |
Chr22:50529602 [GRCh38] Chr22:50968031 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1206C>T (p.His402=) |
single nucleotide variant |
not provided [RCV003009929] |
Chr22:50526095 [GRCh38] Chr22:50964524 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.321C>T (p.Ala107=) |
single nucleotide variant |
not provided [RCV002576852] |
Chr22:50529232 [GRCh38] Chr22:50967661 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1405G>T (p.Ala469Ser) |
single nucleotide variant |
not provided [RCV002649334] |
Chr22:50525814 [GRCh38] Chr22:50964243 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1222C>T (p.Arg408Cys) |
single nucleotide variant |
not provided [RCV003009793] |
Chr22:50526079 [GRCh38] Chr22:50964508 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1386C>A (p.Ser462=) |
single nucleotide variant |
not provided [RCV003061522] |
Chr22:50525833 [GRCh38] Chr22:50964262 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.929-18A>T |
single nucleotide variant |
not provided [RCV002580793] |
Chr22:50526494 [GRCh38] Chr22:50964923 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1017C>G (p.Ala339=) |
single nucleotide variant |
not provided [RCV002832962] |
Chr22:50526388 [GRCh38] Chr22:50964817 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-15C>G |
single nucleotide variant |
not provided [RCV002631881] |
Chr22:50526156 [GRCh38] Chr22:50964585 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.214+10G>T |
single nucleotide variant |
not provided [RCV002806941] |
Chr22:50529486 [GRCh38] Chr22:50967915 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.118A>G (p.Ile40Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002672509] |
Chr22:50529592 [GRCh38] Chr22:50968021 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.120C>T (p.Ile40=) |
single nucleotide variant |
not provided [RCV002857577] |
Chr22:50529590 [GRCh38] Chr22:50968019 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.542G>A (p.Gly181Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004070461]|not provided [RCV003063338] |
Chr22:50527692 [GRCh38] Chr22:50966121 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.929-6C>T |
single nucleotide variant |
not provided [RCV003064189] |
Chr22:50526482 [GRCh38] Chr22:50964911 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.956A>G (p.His319Arg) |
single nucleotide variant |
not provided [RCV002647723] |
Chr22:50526449 [GRCh38] Chr22:50964878 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.516+14C>G |
single nucleotide variant |
not provided [RCV002647851] |
Chr22:50528498 [GRCh38] Chr22:50966927 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.913C>T (p.Leu305=) |
single nucleotide variant |
not provided [RCV003046594] |
Chr22:50526591 [GRCh38] Chr22:50965020 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.978C>A (p.Gly326=) |
single nucleotide variant |
not provided [RCV002834298] |
Chr22:50526427 [GRCh38] Chr22:50964856 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.133_152del (p.Asp45fs) |
deletion |
not provided [RCV003009460] |
Chr22:50529558..50529577 [GRCh38] Chr22:50967987..50968006 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.1255G>A (p.Val419Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004069068]|not provided [RCV002632540] |
Chr22:50526046 [GRCh38] Chr22:50964475 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.547T>C (p.Cys183Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002940286] |
Chr22:50527687 [GRCh38] Chr22:50966116 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.428T>C (p.Ile143Thr) |
single nucleotide variant |
not provided [RCV003062023] |
Chr22:50528600 [GRCh38] Chr22:50967029 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.215-17G>A |
single nucleotide variant |
not provided [RCV003088376] |
Chr22:50529355 [GRCh38] Chr22:50967784 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.710G>C (p.Gly237Ala) |
single nucleotide variant |
not provided [RCV003092435] |
Chr22:50527220 [GRCh38] Chr22:50965649 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.916G>A (p.Val306Ile) |
single nucleotide variant |
not provided [RCV003050943] |
Chr22:50526588 [GRCh38] Chr22:50965017 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.669C>A (p.Leu223=) |
single nucleotide variant |
not provided [RCV002681058] |
Chr22:50527261 [GRCh38] Chr22:50965690 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.387C>T (p.Leu129=) |
single nucleotide variant |
not provided [RCV002658333] |
Chr22:50529166 [GRCh38] Chr22:50967595 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.136G>A (p.Gly46Arg) |
single nucleotide variant |
not provided [RCV003093053] |
Chr22:50529574 [GRCh38] Chr22:50968003 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1159+16G>A |
single nucleotide variant |
not provided [RCV003051478] |
Chr22:50526230 [GRCh38] Chr22:50964659 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.991G>A (p.Ala331Thr) |
single nucleotide variant |
not provided [RCV003093382] |
Chr22:50526414 [GRCh38] Chr22:50964843 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV003147815]|not provided [RCV003050585] |
Chr22:50526365 [GRCh38] Chr22:50964794 [GRCh37] Chr22:22q13.33 |
pathogenic|likely pathogenic |
NM_001953.5(TYMP):c.648C>T (p.Ala216=) |
single nucleotide variant |
not provided [RCV003068846] |
Chr22:50527282 [GRCh38] Chr22:50965711 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-16G>A |
single nucleotide variant |
not provided [RCV002654967] |
Chr22:50526157 [GRCh38] Chr22:50964586 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.838T>C (p.Cys280Arg) |
single nucleotide variant |
not provided [RCV003050953] |
Chr22:50526666 [GRCh38] Chr22:50965095 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1241C>A (p.Pro414Gln) |
single nucleotide variant |
not provided [RCV003052731] |
Chr22:50526060 [GRCh38] Chr22:50964489 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.929-15C>G |
single nucleotide variant |
not provided [RCV003092434] |
Chr22:50526491 [GRCh38] Chr22:50964920 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.924G>T (p.Thr308=) |
single nucleotide variant |
not provided [RCV002634635] |
Chr22:50526580 [GRCh38] Chr22:50965009 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-8C>G |
single nucleotide variant |
not provided [RCV002636016] |
Chr22:50526149 [GRCh38] Chr22:50964578 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1327G>C (p.Asp443His) |
single nucleotide variant |
not provided [RCV003067754] |
Chr22:50525892 [GRCh38] Chr22:50964321 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1207G>A (p.Glu403Lys) |
single nucleotide variant |
not provided [RCV002654876] |
Chr22:50526094 [GRCh38] Chr22:50964523 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.929-4G>A |
single nucleotide variant |
not provided [RCV002586875] |
Chr22:50526480 [GRCh38] Chr22:50964909 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.389C>T (p.Ala130Val) |
single nucleotide variant |
not provided [RCV003072020] |
Chr22:50529164 [GRCh38] Chr22:50967593 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.693G>A (p.Val231=) |
single nucleotide variant |
not provided [RCV002653297] |
Chr22:50527237 [GRCh38] Chr22:50965666 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.692T>C (p.Val231Ala) |
single nucleotide variant |
not provided [RCV003052082] |
Chr22:50527238 [GRCh38] Chr22:50965667 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.459C>A (p.Gly153=) |
single nucleotide variant |
not provided [RCV002586358] |
Chr22:50528569 [GRCh38] Chr22:50966998 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.794G>C (p.Arg265Pro) |
single nucleotide variant |
not provided [RCV003072355] |
Chr22:50526710 [GRCh38] Chr22:50965139 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1246C>T (p.Arg416Cys) |
single nucleotide variant |
not provided [RCV002607433] |
Chr22:50526055 [GRCh38] Chr22:50964484 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.647-16T>C |
single nucleotide variant |
not provided [RCV002588604] |
Chr22:50527299 [GRCh38] Chr22:50965728 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.841G>A (p.Val281Met) |
single nucleotide variant |
not provided [RCV002613301] |
Chr22:50526663 [GRCh38] Chr22:50965092 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.195C>A (p.Ser65Arg) |
single nucleotide variant |
not provided [RCV002607613] |
Chr22:50529515 [GRCh38] Chr22:50967944 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.765+15C>T |
single nucleotide variant |
not provided [RCV003071815] |
Chr22:50527150 [GRCh38] Chr22:50965579 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1047G>A (p.Ala349=) |
single nucleotide variant |
not provided [RCV002725525] |
Chr22:50526358 [GRCh38] Chr22:50964787 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.572T>C (p.Leu191Pro) |
single nucleotide variant |
not provided [RCV002815091] |
Chr22:50527662 [GRCh38] Chr22:50966091 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.246C>T (p.Gly82=) |
single nucleotide variant |
not provided [RCV003067222] |
Chr22:50529307 [GRCh38] Chr22:50967736 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.215-17G>C |
single nucleotide variant |
not provided [RCV002633155] |
Chr22:50529355 [GRCh38] Chr22:50967784 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.38C>T (p.Pro13Leu) |
single nucleotide variant |
not provided [RCV002721365] |
Chr22:50529672 [GRCh38] Chr22:50968101 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.1063G>A (p.Gly355Ser) |
single nucleotide variant |
not provided [RCV004790897] |
Chr22:50526342 [GRCh38] Chr22:50964771 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.767T>C (p.Val256Ala) |
single nucleotide variant |
not provided [RCV003319624] |
Chr22:50526737 [GRCh38] Chr22:50965166 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.472C>T (p.Leu158=) |
single nucleotide variant |
not provided [RCV003872663] |
Chr22:50528556 [GRCh38] Chr22:50966985 [GRCh37] Chr22:22q13.33 |
likely benign |
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 |
copy number loss |
Phelan-McDermid syndrome [RCV003327722] |
Chr22:49757859..50740457 [GRCh38] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1 |
copy number loss |
Chromosome 22q13 duplication syndrome [RCV003329540] |
Chr22:50014114..51244066 [GRCh37] Chr22:22q13.33 |
pathogenic |
NM_001953.5(TYMP):c.859G>C (p.Val287Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003359870] |
Chr22:50526645 [GRCh38] Chr22:50965074 [GRCh37] Chr22:22q13.33 |
uncertain significance |
NM_001953.5(TYMP):c.417+2T>G |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 1 [RCV003464760] |
Chr22:50529134 [GRCh38] Chr22:50967563 [GRCh37] Chr22:22q13.33 |
likely pathogenic |
NM_001953.5(TYMP):c.1272G>A (p.Leu424=) |
single nucleotide variant |
not provided [RCV003711263] |
Chr22:50526029 [GRCh38] Chr22:50964458 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.999G>A (p.Ala333=) |
single nucleotide variant |
not provided [RCV003875322] |
Chr22:50526406 [GRCh38] Chr22:50964835 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1281G>C (p.Val427=) |
single nucleotide variant |
not provided [RCV003715778] |
Chr22:50526020 [GRCh38] Chr22:50964449 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1437G>T (p.Pro479=) |
single nucleotide variant |
not provided [RCV003660699] |
Chr22:50525782 [GRCh38] Chr22:50964211 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1116G>A (p.Leu372=) |
single nucleotide variant |
not provided [RCV003730023] |
Chr22:50526289 [GRCh38] Chr22:50964718 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.813C>T (p.Thr271=) |
single nucleotide variant |
not provided [RCV003570818] |
Chr22:50526691 [GRCh38] Chr22:50965120 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.963G>T (p.Gly321=) |
single nucleotide variant |
not provided [RCV003732614] |
Chr22:50526442 [GRCh38] Chr22:50964871 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1301-12C>G |
single nucleotide variant |
not provided [RCV003733260] |
Chr22:50525930 [GRCh38] Chr22:50964359 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1329C>T (p.Asp443=) |
single nucleotide variant |
not provided [RCV003733678] |
Chr22:50525890 [GRCh38] Chr22:50964319 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+12G>C |
single nucleotide variant |
not provided [RCV003738956] |
Chr22:50526234 [GRCh38] Chr22:50964663 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1014G>A (p.Ser338=) |
single nucleotide variant |
not provided [RCV003739387] |
Chr22:50526391 [GRCh38] Chr22:50964820 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1167G>A (p.Val389=) |
single nucleotide variant |
not provided [RCV003684023] |
Chr22:50526134 [GRCh38] Chr22:50964563 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-11T>A |
single nucleotide variant |
not provided [RCV003719119] |
Chr22:50526152 [GRCh38] Chr22:50964581 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1159+14G>A |
single nucleotide variant |
not provided [RCV003735590] |
Chr22:50526232 [GRCh38] Chr22:50964661 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1425G>A (p.Glu475=) |
single nucleotide variant |
not provided [RCV003663220] |
Chr22:50525794 [GRCh38] Chr22:50964223 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1160-6C>T |
single nucleotide variant |
not provided [RCV003684808] |
Chr22:50526147 [GRCh38] Chr22:50964576 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1249C>T (p.Leu417=) |
single nucleotide variant |
not provided [RCV003687020] |
Chr22:50526052 [GRCh38] Chr22:50964481 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1077C>A (p.Ala359=) |
single nucleotide variant |
TYMP-related disorder [RCV004753702]|not provided [RCV003679413] |
Chr22:50526328 [GRCh38] Chr22:50964757 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1212C>G (p.Leu404=) |
single nucleotide variant |
not provided [RCV003690174] |
Chr22:50526089 [GRCh38] Chr22:50964518 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1191G>A (p.Leu397=) |
single nucleotide variant |
not provided [RCV003690809] |
Chr22:50526110 [GRCh38] Chr22:50964539 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1300+8C>A |
single nucleotide variant |
not provided [RCV003695527] |
Chr22:50525993 [GRCh38] Chr22:50964422 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1011C>A (p.Gly337=) |
single nucleotide variant |
not provided [RCV003721295] |
Chr22:50526394 [GRCh38] Chr22:50964823 [GRCh37] Chr22:22q13.33 |
likely benign |
NM_001953.5(TYMP):c.1078del (p.Leu360fs) |