GRCh38/hg38 15q26.3(chr15:101642152-101843270)x3 |
copy number gain |
See cases [RCV000050845] |
Chr15:101642152..101843270 [GRCh38] Chr15:102182355..102383473 [GRCh37] Chr15:99999878..100200996 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3 |
copy number gain |
See cases [RCV000050851] |
Chr15:94033008..101843270 [GRCh38] Chr15:94576237..102383473 [GRCh37] Chr15:92377241..100200996 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101666117-101723215)x3 |
copy number gain |
See cases [RCV000050651] |
Chr15:101666117..101723215 [GRCh38] Chr15:102206320..102263418 [GRCh37] Chr15:100023843..100080941 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 |
copy number gain |
See cases [RCV000052354] |
Chr15:89679237..101978958 [GRCh38] Chr15:90222468..102519161 [GRCh37] Chr15:88023472..100336684 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] |
Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 |
copy number gain |
See cases [RCV000052347] |
Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 |
copy number gain |
See cases [RCV000052352] |
Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101500777-101843270)x1 |
copy number loss |
See cases [RCV000051975] |
Chr15:101500777..101843270 [GRCh38] Chr15:102040980..102383473 [GRCh37] Chr15:99858503..100200996 [NCBI36] Chr15:15q26.3 |
uncertain significance |
GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1 |
copy number loss |
See cases [RCV000053228] |
Chr15:96069425..101849578 [GRCh38] Chr15:96612654..102389781 [GRCh37] Chr15:94413658..100207304 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1 |
copy number loss |
See cases [RCV000053244] |
Chr15:96329791..101849578 [GRCh38] Chr15:96873020..102389781 [GRCh37] Chr15:94674024..100207304 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1 |
copy number loss |
See cases [RCV000053245] |
Chr15:96913979..101843411 [GRCh38] Chr15:97457209..102383614 [GRCh37] Chr15:95258213..100201137 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1 |
copy number loss |
See cases [RCV000053246] |
Chr15:97735430..101810992 [GRCh38] Chr15:98278660..102351195 [GRCh37] Chr15:96079664..100168718 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1 |
copy number loss |
See cases [RCV000053247] |
Chr15:98845807..101843270 [GRCh38] Chr15:99389036..102383473 [GRCh37] Chr15:97206559..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:98926805-101843270)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|See cases [RCV000053248] |
Chr15:98926805..101843270 [GRCh38] Chr15:99470034..102383473 [GRCh37] Chr15:97287557..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:100126374-101843270)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|See cases [RCV000053249] |
Chr15:100126374..101843270 [GRCh38] Chr15:100666579..102383473 [GRCh37] Chr15:98484102..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1 |
copy number loss |
See cases [RCV000053250] |
Chr15:100222791..101843270 [GRCh38] Chr15:100762996..102383473 [GRCh37] Chr15:98580519..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101621277-101666176)x3 |
copy number gain |
See cases [RCV000133782] |
Chr15:101621277..101666176 [GRCh38] Chr15:102161480..102206379 [GRCh37] Chr15:99979003..100023902 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1 |
copy number loss |
See cases [RCV000133733] |
Chr15:93198717..101843270 [GRCh38] Chr15:93741946..102383473 [GRCh37] Chr15:91542950..100200996 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101621277-101708810)x3 |
copy number gain |
See cases [RCV000133748] |
Chr15:101621277..101708810 [GRCh38] Chr15:102161480..102249013 [GRCh37] Chr15:99979003..100066536 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.3(chr15:101621303-101711860)x3 |
copy number gain |
See cases [RCV000134052] |
Chr15:101621303..101711860 [GRCh38] Chr15:102161506..102252063 [GRCh37] Chr15:99979029..100069586 [NCBI36] Chr15:15q26.3 |
benign|likely benign|conflicting data from submitters |
GRCh38/hg38 15q26.3(chr15:101500643-101716531)x3 |
copy number gain |
See cases [RCV000134020] |
Chr15:101500643..101716531 [GRCh38] Chr15:102040846..102256734 [GRCh37] Chr15:99858369..100074257 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1 |
copy number loss |
See cases [RCV000135397] |
Chr15:97014065..101843270 [GRCh38] Chr15:97557295..102383473 [GRCh37] Chr15:95358299..100200996 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1 |
copy number loss |
See cases [RCV000134969] |
Chr15:99155987..101843270 [GRCh38] Chr15:99696192..102383473 [GRCh37] Chr15:97513715..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 |
copy number gain |
See cases [RCV000135858] |
Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 |
copy number gain |
See cases [RCV000135568] |
Chr15:87904735..101843270 [GRCh38] Chr15:88447966..102383473 [GRCh37] Chr15:86248970..100200996 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101474129-101716545)x3 |
copy number gain |
See cases [RCV000136481] |
Chr15:101474129..101716545 [GRCh38] Chr15:102014334..102256748 [GRCh37] Chr15:99831857..100074271 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.3(chr15:101500777-101723215)x3 |
copy number gain |
See cases [RCV000136490] |
Chr15:101500777..101723215 [GRCh38] Chr15:102040980..102263418 [GRCh37] Chr15:99858503..100080941 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.3(chr15:101694128-101723186)x3 |
copy number gain |
See cases [RCV000136339] |
Chr15:101694128..101723186 [GRCh38] Chr15:102234331..102263389 [GRCh37] Chr15:100051854..100080912 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 |
copy number gain |
See cases [RCV000136849] |
Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3 |
copy number gain |
See cases [RCV000137051] |
Chr15:101686039..101723215 [GRCh38] Chr15:102226242..102263418 [GRCh37] Chr15:100043765..100080941 [NCBI36] Chr15:15q26.3 |
conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1 |
copy number loss |
See cases [RCV000136864] |
Chr15:95770627..101810992 [GRCh38] Chr15:96313856..102351195 [GRCh37] Chr15:94114860..100168718 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 |
copy number gain |
See cases [RCV000137264] |
Chr15:85826665..101920998 [GRCh38] Chr15:86369896..102461201 [GRCh37] Chr15:84170900..100278724 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101395560-101843276)x3 |
copy number gain |
See cases [RCV000138383] |
Chr15:101395560..101843276 [GRCh38] Chr15:101935765..102383479 [GRCh37] Chr15:99753288..100201002 [NCBI36] Chr15:15q26.3 |
likely benign |
GRCh38/hg38 15q26.3(chr15:101608448-101716531)x3 |
copy number gain |
See cases [RCV000138968] |
Chr15:101608448..101716531 [GRCh38] Chr15:102148651..102256734 [GRCh37] Chr15:99966174..100074257 [NCBI36] Chr15:15q26.3 |
likely benign |
GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1 |
copy number loss |
See cases [RCV000139666] |
Chr15:97941427..101797926 [GRCh38] Chr15:98484657..102338129 [GRCh37] Chr15:96285661..100155652 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101685919-101843276)x1 |
copy number loss |
See cases [RCV000139541] |
Chr15:101685919..101843276 [GRCh38] Chr15:102226122..102383479 [GRCh37] Chr15:100043645..100201002 [NCBI36] Chr15:15q26.3 |
likely benign |
GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1 |
copy number loss |
See cases [RCV000141263] |
Chr15:97172754..101920998 [GRCh38] Chr15:97715984..102461201 [GRCh37] Chr15:95516988..100278724 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 |
copy number gain |
See cases [RCV000141431] |
Chr15:93041524..101941326 [GRCh38] Chr15:93584754..102481529 [GRCh37] Chr15:91385758..100299052 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3 |
copy number gain |
See cases [RCV000140658] |
Chr15:97283711..101920998 [GRCh38] Chr15:97826941..102461201 [GRCh37] Chr15:95627945..100278724 [NCBI36] Chr15:15q26.2-26.3 |
likely pathogenic |
GRCh38/hg38 15q26.3(chr15:101621199-101888909)x1 |
copy number loss |
See cases [RCV000141907] |
Chr15:101621199..101888909 [GRCh38] Chr15:102161402..102429112 [GRCh37] Chr15:99978925..100246635 [NCBI36] Chr15:15q26.3 |
likely benign|uncertain significance |
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 |
copy number gain |
See cases [RCV000141899] |
Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 |
copy number gain |
See cases [RCV000143019] |
Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 |
copy number gain |
See cases [RCV000142915] |
Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1 |
copy number loss |
See cases [RCV000143088] |
Chr15:96024127..101920998 [GRCh38] Chr15:96567356..102461201 [GRCh37] Chr15:94368360..100278724 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101552822-101843270)x1 |
copy number loss |
See cases [RCV000142767] |
Chr15:101552822..101843270 [GRCh38] Chr15:102093025..102383473 [GRCh37] Chr15:99910548..100200996 [NCBI36] Chr15:15q26.3 |
likely benign |
GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3 |
copy number gain |
See cases [RCV000142579] |
Chr15:99338283..101843270 [GRCh38] Chr15:99878488..102383473 [GRCh37] Chr15:97696011..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1 |
copy number loss |
See cases [RCV000142728] |
Chr15:98467297..101843270 [GRCh38] Chr15:99010526..102383473 [GRCh37] Chr15:96828049..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1 |
copy number loss |
See cases [RCV000143176] |
Chr15:97681713..101920998 [GRCh38] Chr15:98224943..102461201 [GRCh37] Chr15:96025947..100278724 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3 |
copy number gain |
See cases [RCV000143526] |
Chr15:98280297..101888909 [GRCh38] Chr15:98823526..102429112 [GRCh37] Chr15:96641049..100246635 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:102251993-102461162)x3 |
copy number gain |
Premature ovarian failure [RCV000225208] |
Chr15:102251993..102461162 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1 |
copy number loss |
See cases [RCV000239905] |
Chr15:98458265..102354857 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101645331-102263418)x3 |
copy number gain |
See cases [RCV000239911] |
Chr15:101645331..102263418 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1 |
copy number loss |
See cases [RCV000240535] |
Chr15:92197136..102354857 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 |
copy number gain |
See cases [RCV000240602] |
Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
NM_152334.3(TARS3):c.808G>A (p.Asp270Asn) |
single nucleotide variant |
not specified [RCV004288297] |
Chr15:101711884 [GRCh38] Chr15:102252087 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 |
copy number gain |
not provided [RCV000415836] |
Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 |
copy number gain |
See cases [RCV000449119] |
Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 |
copy number gain |
See cases [RCV000447123] |
Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) |
copy number loss |
See cases [RCV000447603] |
Chr15:90346994..102354798 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:95238218-102429112)x1 |
copy number loss |
See cases [RCV000446457] |
Chr15:95238218..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 |
copy number gain |
See cases [RCV000445978] |
Chr15:89924847..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:94782891-102429112)x1 |
copy number loss |
See cases [RCV000445764] |
Chr15:94782891..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 |
copy number gain |
See cases [RCV000445705] |
Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 |
copy number gain |
See cases [RCV000448044] |
Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
NC_000015.9:g.(?_100885379)_(102399948_?)dup |
duplication |
Schizophrenia [RCV000416623] |
Chr15:100885379..102399948 [GRCh37] Chr15:98702902..100217471 [NCBI36] Chr15:15q26.3 |
likely pathogenic |
GRCh37/hg19 15q26.3(chr15:98818228-102399760) |
copy number loss |
See cases [RCV000447813] |
Chr15:98818228..102399760 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)x1 |
copy number loss |
See cases [RCV000448857] |
Chr15:97223728..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101124214-102429112)x1 |
copy number loss |
See cases [RCV000510246] |
Chr15:101124214..102429112 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1 |
copy number loss |
See cases [RCV000510663] |
Chr15:96913435..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101569237-102344434)x3 |
copy number gain |
See cases [RCV000511628] |
Chr15:101569237..102344434 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3 |
copy number gain |
See cases [RCV000511719] |
Chr15:93148806..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:100564922-102399548)x1 |
copy number loss |
See cases [RCV000511119] |
Chr15:100564922..102399548 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1301C>T (p.Thr434Met) |
single nucleotide variant |
not specified [RCV004292705] |
Chr15:101701105 [GRCh38] Chr15:102241308 [GRCh37] Chr15:15q26.3 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
NM_152334.3(TARS3):c.671A>G (p.Asp224Gly) |
single nucleotide variant |
not specified [RCV004300693] |
Chr15:101714859 [GRCh38] Chr15:102255062 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2350A>G (p.Ile784Val) |
single nucleotide variant |
not specified [RCV004317348] |
Chr15:101654641 [GRCh38] Chr15:102194844 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1 |
copy number loss |
See cases [RCV000512353] |
Chr15:98220018..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1 |
copy number loss |
See cases [RCV000512205] |
Chr15:101238481..102429112 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1 |
copy number loss |
See cases [RCV000512437] |
Chr15:98737093..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:102040980-102310654)x3 |
copy number gain |
not provided [RCV000659200] |
Chr15:102040980..102310654 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 |
copy number gain |
not provided [RCV000683718] |
Chr15:89743929..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 |
copy number gain |
not provided [RCV000683703] |
Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1 |
copy number loss |
not provided [RCV000683730] |
Chr15:100526020..102429112 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3 |
copy number gain |
not provided [RCV000683726] |
Chr15:99928623..102429112 [GRCh37] Chr15:15q26.3 |
likely pathogenic |
GRCh37/hg19 15q26.3(chr15:101734079-102429112)x3 |
copy number gain |
not provided [RCV000683736] |
Chr15:101734079..102429112 [GRCh37] Chr15:15q26.3 |
likely benign|uncertain significance |
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 |
copy number gain |
not provided [RCV000683710] |
Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:102006937-102331052)x1 |
copy number loss |
not provided [RCV000683737] |
Chr15:102006937..102331052 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 |
copy number gain |
not provided [RCV000738864] |
Chr15:88385150..102461162 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 |
copy number gain |
not provided [RCV000751387] |
Chr15:90277151..102376761 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:102035267-102461162)x3 |
copy number gain |
not provided [RCV000751431] |
Chr15:102035267..102461162 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102144622-102326466)x3 |
copy number gain |
not provided [RCV000751433] |
Chr15:102144622..102326466 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102152042-102210971)x1 |
copy number loss |
not provided [RCV000751434] |
Chr15:102152042..102210971 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102157749-102255795)x3 |
copy number gain |
not provided [RCV000751435] |
Chr15:102157749..102255795 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102157749-102277592)x3 |
copy number gain |
not provided [RCV000751436] |
Chr15:102157749..102277592 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102172952-102258537)x3 |
copy number gain |
not provided [RCV000751437] |
Chr15:102172952..102258537 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102219085-102359307)x1 |
copy number loss |
not provided [RCV000751438] |
Chr15:102219085..102359307 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102224341-102288471)x3 |
copy number gain |
not provided [RCV000751439] |
Chr15:102224341..102288471 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423) |
copy number loss |
not provided [RCV000767761] |
Chr15:96873212..102389423 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:102151436-102224341)x1 |
copy number loss |
not provided [RCV000847817] |
Chr15:102151436..102224341 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 |
copy number gain |
not provided [RCV000846885] |
Chr15:90288175..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:102151468-102224341)x1 |
copy number loss |
not provided [RCV000845707] |
Chr15:102151468..102224341 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:102065746-102429112)x1 |
copy number loss |
not provided [RCV000845723] |
Chr15:102065746..102429112 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:101696490-102311245)x3 |
copy number gain |
not provided [RCV000848225] |
Chr15:101696490..102311245 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1 |
copy number loss |
not provided [RCV001006729] |
Chr15:98686212..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 |
copy number loss |
not provided [RCV001006718] |
Chr15:87189245..102429112 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 |
copy number loss |
Chromosome 15q26-qter deletion syndrome [RCV000993689] |
Chr15:96878099..102397836 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1 |
copy number loss |
not provided [RCV001006730] |
Chr15:98795669..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
NM_152334.3(TARS3):c.1021A>G (p.Lys341Glu) |
single nucleotide variant |
not specified [RCV004292939] |
Chr15:101703912 [GRCh38] Chr15:102244115 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:101683593-102270458)x3 |
copy number gain |
not provided [RCV001259823] |
Chr15:101683593..102270458 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1 |
copy number loss |
not provided [RCV001259819] |
Chr15:98275761..102358202 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1 |
copy number loss |
not provided [RCV001259829] |
Chr15:100853021..102429112 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 |
copy number loss |
See cases [RCV001263026] |
Chr15:86962053..102531392 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:102194980-102278574)x1 |
copy number loss |
not provided [RCV001834206] |
Chr15:102194980..102278574 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.3(chr15:102151037-102224601)x1 |
copy number loss |
not provided [RCV001834271] |
Chr15:102151037..102224601 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.3(chr15:101783340-102429112)x3 |
copy number gain |
not provided [RCV001832991] |
Chr15:101783340..102429112 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.3(chr15:101659856-102429112)x3 |
copy number gain |
not provided [RCV001827780] |
Chr15:101659856..102429112 [GRCh37] Chr15:15q26.3 |
likely benign|uncertain significance |
GRCh37/hg19 15q26.3(chr15:101876976-102209916)x3 |
copy number gain |
not provided [RCV001827695] |
Chr15:101876976..102209916 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112) |
copy number loss |
not specified [RCV002052490] |
Chr15:97026327..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112) |
copy number loss |
not specified [RCV002052491] |
Chr15:97223728..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:99258367-102429112) |
copy number loss |
not specified [RCV002052494] |
Chr15:99258367..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
NM_152334.3(TARS3):c.823A>G (p.Ser275Gly) |
single nucleotide variant |
not specified [RCV004248148] |
Chr15:101708900 [GRCh38] Chr15:102249103 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1507C>T (p.Pro503Ser) |
single nucleotide variant |
not specified [RCV004277782] |
Chr15:101684218 [GRCh38] Chr15:102224421 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2065G>A (p.Gly689Arg) |
single nucleotide variant |
not specified [RCV004253672] |
Chr15:101661719 [GRCh38] Chr15:102201922 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 |
copy number gain |
not provided [RCV003222840] |
Chr15:84228005..102264590 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
NM_152334.3(TARS3):c.1345A>C (p.Thr449Pro) |
single nucleotide variant |
not specified [RCV004264242] |
Chr15:101686038 [GRCh38] Chr15:102226241 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2380C>G (p.Arg794Gly) |
single nucleotide variant |
not specified [RCV004319464] |
Chr15:101654611 [GRCh38] Chr15:102194814 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 |
copy number gain |
See cases [RCV003329502] |
Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3 |
pathogenic |
NM_152334.3(TARS3):c.794A>G (p.Asp265Gly) |
single nucleotide variant |
not specified [RCV004344622] |
Chr15:101711898 [GRCh38] Chr15:102252101 [GRCh37] Chr15:15q26.3 |
uncertain significance |
Single allele |
deletion |
not provided [RCV003448683] |
Chr15:98565904..102400021 [GRCh37] Chr15:15q26.3 |
pathogenic |
NM_152334.3(TARS3):c.587C>T (p.Thr196Met) |
single nucleotide variant |
not provided [RCV003395072] |
Chr15:101714943 [GRCh38] Chr15:102255146 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.3(chr15:101919415-102429112)x1 |
copy number loss |
not provided [RCV003483252] |
Chr15:101919415..102429112 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1 |
copy number loss |
not specified [RCV003987093] |
Chr15:98679543..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
NM_152334.3(TARS3):c.2093G>A (p.Arg698His) |
single nucleotide variant |
not specified [RCV004469227] |
Chr15:101657837 [GRCh38] Chr15:102198040 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1051A>G (p.Ile351Val) |
single nucleotide variant |
not specified [RCV004469210] |
Chr15:101703882 [GRCh38] Chr15:102244085 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1759G>A (p.Glu587Lys) |
single nucleotide variant |
not specified [RCV004469224] |
Chr15:101675629 [GRCh38] Chr15:102215832 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2153G>A (p.Ser718Asn) |
single nucleotide variant |
not specified [RCV004469230] |
Chr15:101657029 [GRCh38] Chr15:102197232 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2303G>A (p.Arg768Gln) |
single nucleotide variant |
not specified [RCV004469237] |
Chr15:101654688 [GRCh38] Chr15:102194891 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.257A>G (p.Glu86Gly) |
single nucleotide variant |
not specified [RCV004469238] |
Chr15:101724131 [GRCh38] Chr15:102264334 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.629G>A (p.Arg210His) |
single nucleotide variant |
not specified [RCV004469244] |
Chr15:101714901 [GRCh38] Chr15:102255104 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2206A>G (p.Thr736Ala) |
single nucleotide variant |
not specified [RCV004469231] |
Chr15:101656976 [GRCh38] Chr15:102197179 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2227A>T (p.Asn743Tyr) |
single nucleotide variant |
not specified [RCV004469233] |
Chr15:101656955 [GRCh38] Chr15:102197158 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.368A>T (p.Glu123Val) |
single nucleotide variant |
not specified [RCV004469239] |
Chr15:101723094 [GRCh38] Chr15:102263297 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.976G>T (p.Ala326Ser) |
single nucleotide variant |
not specified [RCV004469250] |
Chr15:101705702 [GRCh38] Chr15:102245905 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1 |
copy number loss |
not provided [RCV004577491] |
Chr15:98615561..102400033 [GRCh37] Chr15:15q26.3 |
pathogenic |
NM_152334.3(TARS3):c.1103C>T (p.Pro368Leu) |
single nucleotide variant |
not specified [RCV004469211] |
Chr15:101702357 [GRCh38] Chr15:102242560 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1390G>C (p.Ala464Pro) |
single nucleotide variant |
not specified [RCV004469217] |
Chr15:101685993 [GRCh38] Chr15:102226196 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1454T>C (p.Phe485Ser) |
single nucleotide variant |
not specified [RCV004469218] |
Chr15:101685929 [GRCh38] Chr15:102226132 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.146G>T (p.Cys49Phe) |
single nucleotide variant |
not specified [RCV004469219] |
Chr15:101724242 [GRCh38] Chr15:102264445 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2011G>A (p.Ala671Thr) |
single nucleotide variant |
not specified [RCV004469226] |
Chr15:101661773 [GRCh38] Chr15:102201976 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2152A>G (p.Ser718Gly) |
single nucleotide variant |
not specified [RCV004469229] |
Chr15:101657030 [GRCh38] Chr15:102197233 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.227C>T (p.Ala76Val) |
single nucleotide variant |
not specified [RCV004469236] |
Chr15:101724161 [GRCh38] Chr15:102264364 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.370G>T (p.Val124Leu) |
single nucleotide variant |
not specified [RCV004469240] |
Chr15:101721322 [GRCh38] Chr15:102261525 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.391A>G (p.Ile131Val) |
single nucleotide variant |
not specified [RCV004469241] |
Chr15:101721301 [GRCh38] Chr15:102261504 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.628C>A (p.Arg210Ser) |
single nucleotide variant |
not specified [RCV004469243] |
Chr15:101714902 [GRCh38] Chr15:102255105 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1025G>A (p.Gly342Asp) |
single nucleotide variant |
not specified [RCV004469209] |
Chr15:101703908 [GRCh38] Chr15:102244111 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1286C>G (p.Ala429Gly) |
single nucleotide variant |
not specified [RCV004469212] |
Chr15:101701120 [GRCh38] Chr15:102241323 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.131A>G (p.Gln44Arg) |
single nucleotide variant |
not specified [RCV004469213] |
Chr15:101724257 [GRCh38] Chr15:102264460 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1346C>T (p.Thr449Met) |
single nucleotide variant |
not specified [RCV004469214] |
Chr15:101686037 [GRCh38] Chr15:102226240 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.134C>A (p.Ala45Glu) |
single nucleotide variant |
not specified [RCV004469215] |
Chr15:101724254 [GRCh38] Chr15:102264457 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.134C>G (p.Ala45Gly) |
single nucleotide variant |
not specified [RCV004469216] |
Chr15:101724254 [GRCh38] Chr15:102264457 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2095C>A (p.Gln699Lys) |
single nucleotide variant |
not specified [RCV004469228] |
Chr15:101657835 [GRCh38] Chr15:102198038 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2221A>C (p.Ile741Leu) |
single nucleotide variant |
not specified [RCV004469232] |
Chr15:101656961 [GRCh38] Chr15:102197164 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2245T>C (p.Tyr749His) |
single nucleotide variant |
not specified [RCV004469234] |
Chr15:101656937 [GRCh38] Chr15:102197140 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2264T>C (p.Val755Ala) |
single nucleotide variant |
not specified [RCV004469235] |
Chr15:101654727 [GRCh38] Chr15:102194930 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.415G>A (p.Glu139Lys) |
single nucleotide variant |
not specified [RCV004469242] |
Chr15:101721277 [GRCh38] Chr15:102261480 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.817G>A (p.Val273Met) |
single nucleotide variant |
not specified [RCV004469248] |
Chr15:101708906 [GRCh38] Chr15:102249109 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1721A>G (p.Gln574Arg) |
single nucleotide variant |
not specified [RCV004681954] |
Chr15:101675667 [GRCh38] Chr15:102215870 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.370G>A (p.Val124Met) |
single nucleotide variant |
not specified [RCV004673229] |
Chr15:101721322 [GRCh38] Chr15:102261525 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1156A>G (p.Met386Val) |
single nucleotide variant |
not specified [RCV004673227] |
Chr15:101702304 [GRCh38] Chr15:102242507 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 |
copy number gain |
See cases [RCV000511332] |
Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101862163-102215765)x3 |
copy number gain |
not provided [RCV000738902] |
Chr15:101862163..102215765 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102028468-102288471)x3 |
copy number gain |
not provided [RCV000738912] |
Chr15:102028468..102288471 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:102028468-102305129)x3 |
copy number gain |
not provided [RCV000738913] |
Chr15:102028468..102305129 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1 |
copy number loss |
not provided [RCV001537887] |
Chr15:92335751..102399741 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3 |
copy number gain |
not specified [RCV003987113] |
Chr15:94176550..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
NM_152334.3(TARS3):c.730A>G (p.Met244Val) |
single nucleotide variant |
not specified [RCV004469247] |
Chr15:101711962 [GRCh38] Chr15:102252165 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1497T>A (p.Phe499Leu) |
single nucleotide variant |
not specified [RCV004469220] |
Chr15:101684228 [GRCh38] Chr15:102224431 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1905T>G (p.His635Gln) |
single nucleotide variant |
not specified [RCV004469225] |
Chr15:101671548 [GRCh38] Chr15:102211751 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.691G>T (p.Val231Leu) |
single nucleotide variant |
not specified [RCV004469246] |
Chr15:101712001 [GRCh38] Chr15:102252204 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.880C>T (p.Pro294Ser) |
single nucleotide variant |
not specified [RCV004469249] |
Chr15:101708843 [GRCh38] Chr15:102249046 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1505G>A (p.Arg502His) |
single nucleotide variant |
not specified [RCV004469221] |
Chr15:101684220 [GRCh38] Chr15:102224423 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1565A>G (p.Asn522Ser) |
single nucleotide variant |
not specified [RCV004469222] |
Chr15:101684160 [GRCh38] Chr15:102224363 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1606C>T (p.Arg536Cys) |
single nucleotide variant |
not specified [RCV004469223] |
Chr15:101684119 [GRCh38] Chr15:102224322 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.605A>G (p.Asn202Ser) |
single nucleotide variant |
not specified [RCV004673222] |
Chr15:101714925 [GRCh38] Chr15:102255128 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1091G>T (p.Trp364Leu) |
single nucleotide variant |
not specified [RCV004673223] |
Chr15:101702369 [GRCh38] Chr15:102242572 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1524A>C (p.Glu508Asp) |
single nucleotide variant |
not specified [RCV004673224] |
Chr15:101684201 [GRCh38] Chr15:102224404 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.356A>C (p.Glu119Ala) |
single nucleotide variant |
not specified [RCV004673225] |
Chr15:101723106 [GRCh38] Chr15:102263309 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.107A>C (p.Gln36Pro) |
single nucleotide variant |
not specified [RCV004673226] |
Chr15:101724281 [GRCh38] Chr15:102264484 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2009G>A (p.Arg670Gln) |
single nucleotide variant |
not specified [RCV004673228] |
Chr15:101661775 [GRCh38] Chr15:102201978 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.1-26.3(chr15:93918298-102429112)x1 |
copy number loss |
not provided [RCV004819384] |
Chr15:93918298..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
NM_152334.3(TARS3):c.367G>A (p.Glu123Lys) |
single nucleotide variant |
not specified [RCV004866456] |
Chr15:101723095 [GRCh38] Chr15:102263298 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.470A>T (p.Asp157Val) |
single nucleotide variant |
not specified [RCV004866457] |
Chr15:101721222 [GRCh38] Chr15:102261425 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2012C>T (p.Ala671Val) |
single nucleotide variant |
not specified [RCV004866458] |
Chr15:101661772 [GRCh38] Chr15:102201975 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1331A>G (p.His444Arg) |
single nucleotide variant |
not specified [RCV004866459] |
Chr15:101686052 [GRCh38] Chr15:102226255 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.808G>T (p.Asp270Tyr) |
single nucleotide variant |
not specified [RCV004866460] |
Chr15:101711884 [GRCh38] Chr15:102252087 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.236G>A (p.Arg79Gln) |
single nucleotide variant |
not specified [RCV004866461] |
Chr15:101724152 [GRCh38] Chr15:102264355 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1915A>G (p.Thr639Ala) |
single nucleotide variant |
not specified [RCV004866462] |
Chr15:101671538 [GRCh38] Chr15:102211741 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1298A>G (p.Asn433Ser) |
single nucleotide variant |
not specified [RCV004866463] |
Chr15:101701108 [GRCh38] Chr15:102241311 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2111C>T (p.Pro704Leu) |
single nucleotide variant |
not specified [RCV004866464] |
Chr15:101657819 [GRCh38] Chr15:102198022 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.287C>A (p.Ala96Asp) |
single nucleotide variant |
not specified [RCV004866465] |
Chr15:101724101 [GRCh38] Chr15:102264304 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1360C>G (p.Pro454Ala) |
single nucleotide variant |
not specified [RCV004866466] |
Chr15:101686023 [GRCh38] Chr15:102226226 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.1272C>G (p.Phe424Leu) |
single nucleotide variant |
not specified [RCV004866467] |
Chr15:101701134 [GRCh38] Chr15:102241337 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.8C>G (p.Ala3Gly) |
single nucleotide variant |
not specified [RCV004877972] |
Chr15:101724380 [GRCh38] Chr15:102264583 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.2126G>A (p.Cys709Tyr) |
single nucleotide variant |
not specified [RCV004866468] |
Chr15:101657804 [GRCh38] Chr15:102198007 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_152334.3(TARS3):c.545A>G (p.Tyr182Cys) |
single nucleotide variant |
not specified [RCV004866469] |
Chr15:101721147 [GRCh38] Chr15:102261350 [GRCh37] Chr15:15q26.3 |
uncertain significance |