Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TANGO2-related metabolic encephalopathy and arrythmias | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TANGO2-related metabolic encephalopathy and arrythmias | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7566098 | PMID:12107413 | PMID:12477932 | PMID:14702039 | PMID:15342556 | PMID:15461802 | PMID:15489334 | PMID:16344560 | PMID:18775783 | PMID:19322201 | PMID:21873635 | PMID:22939629 |
PMID:26186194 | PMID:26344197 | PMID:26805781 | PMID:26805782 | PMID:28514442 | PMID:28611215 | PMID:28986522 | PMID:29369572 | PMID:29791485 | PMID:30245509 | PMID:31276219 | PMID:31339582 |
PMID:32909282 | PMID:32929747 | PMID:33342685 | PMID:33961781 | PMID:34048709 | PMID:34668327 | PMID:35197517 | PMID:35831314 | PMID:36961129 | PMID:37721116 |
TANGO2 (Homo sapiens - human) |
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Tango2 (Mus musculus - house mouse) |
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Tango2 (Rattus norvegicus - Norway rat) |
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Tango2 (Chinchilla lanigera - long-tailed chinchilla) |
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TANGO2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TANGO2 (Canis lupus familiaris - dog) |
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Tango2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TANGO2 (Sus scrofa - pig) |
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TANGO2 (Chlorocebus sabaeus - green monkey) |
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Tango2 (Heterocephalus glaber - naked mole-rat) |
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Variants in TANGO2
289 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh37/hg19 22q11.21(chr22:18894835-21464119) | copy number gain | Global developmental delay [RCV001291954] | Chr22:18894835..21464119 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 | copy number loss | VATER association [RCV000520380] | Chr22:18915347..21463730 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.149T>C (p.Leu50Pro) | single nucleotide variant | not provided [RCV000521489] | Chr22:20052468 [GRCh38] Chr22:20039991 [GRCh37] Chr22:22q11.21 |
likely pathogenic|conflicting interpretations of pathogenicity |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000050271] | Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 | copy number loss | See cases [RCV000050273] | Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 | copy number loss | See cases [RCV000050290] | Chr22:18339130..20671425 [GRCh38] Chr22:18706001..21025713 [GRCh37] Chr22:17086001..19355713 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000050991] | Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000050992] | Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 | copy number gain | See cases [RCV000050858] | Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 | copy number loss | See cases [RCV000050859] | Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 | copy number gain | See cases [RCV000050768] | Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000050550] | Chr22:18339130..21151128 [GRCh38] Chr22:18706001..21505417 [GRCh37] Chr22:17086001..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 | copy number gain | See cases [RCV000050614] | Chr22:16916608..21151128 [GRCh38] Chr22:17397498..21505417 [GRCh37] Chr22:15777498..19835417 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|See cases [RCV000050729] | Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 | copy number gain | See cases [RCV000050628] | Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 | copy number gain | See cases [RCV000050387] | Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|See cases [RCV000050630] | Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 | copy number loss | See cases [RCV000050360] | Chr22:18178957..21207225 [GRCh38] Chr22:18661724..21561514 [GRCh37] Chr22:17041724..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000050388] | Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1 | copy number loss | See cases [RCV000051270] | Chr22:16538125..20363937 [GRCh38] Chr22:17019015..20718227 [GRCh37] Chr22:15399015..19048227 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 | copy number loss | See cases [RCV000051271] | Chr22:18145052..21086366 [GRCh38] Chr22:18627819..21440655 [GRCh37] Chr22:17007819..19770655 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 | copy number loss | See cases [RCV000051272] | Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 | copy number gain | See cases [RCV000051273] | Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 | copy number loss | See cases [RCV000051275] | Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 | copy number gain | See cases [RCV000051276] | Chr22:18177786..21101267 [GRCh38] Chr22:18660553..21455556 [GRCh37] Chr22:17040553..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 | copy number loss | See cases [RCV000051278] | Chr22:18177786..21101267 [GRCh38] Chr22:18660553..21455556 [GRCh37] Chr22:17040553..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 | copy number loss | See cases [RCV000051283] | Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 | copy number loss | See cases [RCV000051286] | Chr22:18188862..21182552 [GRCh38] Chr22:18671629..21536841 [GRCh37] Chr22:17051629..19866841 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 | copy number loss | See cases [RCV000051295] | Chr22:18339130..21151269 [GRCh38] Chr22:18705801..21505558 [GRCh37] Chr22:17085801..19835558 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] | Chr22:18339130..21086366 [GRCh38] Chr22:18705801..21440655 [GRCh37] Chr22:17085801..19770655 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000051297] | Chr22:18339130..20343532 [GRCh38] Chr22:18706001..20659606 [GRCh37] Chr22:17086001..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 | copy number loss | See cases [RCV000051298] | Chr22:18339130..21454720 [GRCh38] Chr22:18706001..21809009 [GRCh37] Chr22:17086001..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18886943-20318794)x1 | copy number loss | See cases [RCV000051299] | Chr22:18886943..20318794 [GRCh38] Chr22:18874456..20306317 [GRCh37] Chr22:17254456..18686317 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18902758-20340590)x1 | copy number loss | See cases [RCV000051300] | Chr22:18902758..20340590 [GRCh38] Chr22:18890271..20328113 [GRCh37] Chr22:17270271..18708113 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 | copy number loss | See cases [RCV000051301] | Chr22:18339130..21107522 [GRCh38] Chr22:18890271..21461811 [GRCh37] Chr22:17270271..19791811 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000051319] | Chr22:18339130..20343532 [GRCh38] Chr22:18890271..20659606 [GRCh37] Chr22:17270271..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 | copy number loss | See cases [RCV000051321] | Chr22:18339130..21040441 [GRCh38] Chr22:18890271..21394730 [GRCh37] Chr22:17270271..19724730 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000051323] | Chr22:18339130..21086225 [GRCh38] Chr22:18896972..21440514 [GRCh37] Chr22:17276972..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000051324] | Chr22:18339130..21086225 [GRCh38] Chr22:18896972..21440514 [GRCh37] Chr22:17276972..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 | copy number loss | See cases [RCV000051325] | Chr22:18339130..21086366 [GRCh38] Chr22:18919742..21440655 [GRCh37] Chr22:17299742..19770655 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1 | copy number loss | See cases [RCV000051327] | Chr22:18339130..20671566 [GRCh38] Chr22:18919742..21025854 [GRCh37] Chr22:17299742..19355854 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 | copy number loss | See cases [RCV000051328] | Chr22:18339130..21151269 [GRCh38] Chr22:18919742..21505558 [GRCh37] Chr22:17299742..19835558 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|See cases [RCV000051023] | Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000051024] | Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|See cases [RCV000051035] | Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3 | copy number gain | See cases [RCV000051158] | Chr22:18178957..20324240 [GRCh38] Chr22:18661724..20311763 [GRCh37] Chr22:17041724..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 | copy number gain | See cases [RCV000051170] | Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 | copy number loss | See cases [RCV000051171] | Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 | copy number gain | See cases [RCV000051942] | Chr22:18339130..21101267 [GRCh38] Chr22:18950766..21455556 [GRCh37] Chr22:17330766..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3 | copy number gain | See cases [RCV000051943] | Chr22:18339130..20588575 [GRCh38] Chr22:19168758..20942862 [GRCh37] Chr22:17519027..19272862 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 | copy number gain | See cases [RCV000051918] | Chr22:18169870..21559889 [GRCh38] Chr22:18652637..21914178 [GRCh37] Chr22:17032637..20244178 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 | copy number gain | See cases [RCV000051919] | Chr22:18339130..21056995 [GRCh38] Chr22:18704554..21411284 [GRCh37] Chr22:17084554..19741284 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 | copy number gain | See cases [RCV000051920] | Chr22:18339130..21207381 [GRCh38] Chr22:18705801..21561670 [GRCh37] Chr22:17085801..19891670 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 | copy number gain | See cases [RCV000051937] | Chr22:18339130..21151128 [GRCh38] Chr22:18890271..21505417 [GRCh37] Chr22:17270271..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000051938] | Chr22:18339130..21207225 [GRCh38] Chr22:18890271..21561514 [GRCh37] Chr22:17270271..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 | copy number gain | See cases [RCV000051939] | Chr22:18339130..21444466 [GRCh38] Chr22:18909038..21798755 [GRCh37] Chr22:17289038..20128755 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000051940] | Chr22:18339130..21086225 [GRCh38] Chr22:18909038..21440514 [GRCh37] Chr22:17289038..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18932229-20324381)x3 | copy number gain | See cases [RCV000051941] | Chr22:18932229..20324381 [GRCh38] Chr22:18919742..20311904 [GRCh37] Chr22:17299742..18691904 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] | Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20402677 [GRCh37] Chr22:15777498..18782677 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 | copy number gain | See cases [RCV000053104] | Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 | copy number loss | See cases [RCV000053047] | Chr22:18339130..21107522 [GRCh38] Chr22:19035017..21461811 [GRCh37] Chr22:17415017..19791811 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] | Chr22:18339130..21151128 [GRCh38] Chr22:19358153..21505417 [GRCh37] Chr22:17738153..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 | copy number loss | See cases [RCV000053003] | Chr22:18339130..20671425 [GRCh38] Chr22:18919942..21025713 [GRCh37] Chr22:17299942..19355713 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 | copy number loss | See cases [RCV000053004] | Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 | copy number loss | See cases [RCV000053015] | Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1 | copy number loss | See cases [RCV000053025] | Chr22:18339130..20641963 [GRCh38] Chr22:18938161..20996250 [GRCh37] Chr22:17318161..19326250 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 | copy number loss | See cases [RCV000053027] | Chr22:18339130..21101267 [GRCh38] Chr22:18962313..21455556 [GRCh37] Chr22:17342313..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 | copy number loss | See cases [RCV000053029] | Chr22:18339130..21101267 [GRCh38] Chr22:18999803..21455556 [GRCh37] Chr22:17379803..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 | copy number loss | See cases [RCV000053006] | Chr22:18339130..21151269 [GRCh38] Chr22:18919942..21505558 [GRCh37] Chr22:17299942..19835558 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18950648-20241494)x1 | copy number loss | See cases [RCV000053009] | Chr22:18950648..20241494 [GRCh38] Chr22:18938161..20229017 [GRCh37] Chr22:17318161..18609017 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 | copy number gain | See cases [RCV000053012] | Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000053032] | Chr22:18339130..21151128 [GRCh38] Chr22:19029602..21505417 [GRCh37] Chr22:17409602..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
NM_152906.5(TANGO2):c.499C>T (p.Leu167=) | single nucleotide variant | Malignant melanoma [RCV000072891] | Chr22:20061577 [GRCh38] Chr22:20049100 [GRCh37] Chr22:18429100 [NCBI36] Chr22:22q11.21 |
not provided |
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3 | copy number gain | See cases [RCV000133642] | Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21 |
uncertain significance |
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 |
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 | copy number loss | See cases [RCV000133643] | Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21 |
uncertain significance |
Single allele | deletion | Epilepsy [RCV001293366] | Chr22:18889490..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 | copy number loss | See cases [RCV000051035] | Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:17299942..19038934 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000051023] | Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-20278471)x3 | copy number gain | See cases [RCV000515585] | Chr22:18886915..20278471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 | copy number gain | See cases [RCV000133889] | Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000133890] | Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000133880] | Chr22:18339130..21207225 [GRCh38] Chr22:18894835..21561514 [GRCh37] Chr22:17274835..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 | copy number loss | See cases [RCV000133881] | Chr22:18339130..21207225 [GRCh38] Chr22:18894835..21561514 [GRCh37] Chr22:17274835..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 | copy number gain | See cases [RCV000133887] | Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 | copy number loss | See cases [RCV000050630] | Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 | copy number gain | See cases [RCV000050729] | Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:17299942..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 | copy number gain | See cases [RCV000133785] | Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 | copy number loss | See cases [RCV000133786] | Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 | copy number gain | See cases [RCV000133682] | Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20659606 [GRCh37] Chr22:15777498..18989606 [NCBI36] Chr22:22q11.1-11.21 |
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 22q11.21(chr22:18907322-20250683)x1 | copy number loss | See cases [RCV000134515] | Chr22:18907322..20250683 [GRCh38] Chr22:18894835..20238206 [GRCh37] Chr22:17274835..18618206 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 | copy number gain | See cases [RCV000134519] | Chr22:18339130..21107463 [GRCh38] Chr22:18894835..21461752 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 | copy number loss | See cases [RCV000134520] | Chr22:18339130..21107463 [GRCh38] Chr22:18894835..21461752 [GRCh37] Chr22:17274835..19791752 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000133998] | Chr22:18339130..20343532 [GRCh38] Chr22:18894835..20659606 [GRCh37] Chr22:17274835..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 | copy number gain | See cases [RCV000134128] | Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 | copy number gain | See cases [RCV000134084] | Chr22:18339130..21086226 [GRCh38] Chr22:18894820..21440515 [GRCh37] Chr22:17274820..19770515 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 | copy number loss | See cases [RCV000134085] | Chr22:18339130..21086226 [GRCh38] Chr22:18894820..21440515 [GRCh37] Chr22:17274820..19770515 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 | copy number loss | See cases [RCV000134130] | Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 | copy number gain | See cases [RCV000135308] | Chr22:18168847..21086166 [GRCh38] Chr22:18651614..21440455 [GRCh37] Chr22:17031614..19770455 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 | copy number loss | See cases [RCV000134837] | Chr22:18145380..21086226 [GRCh38] Chr22:18628147..21440515 [GRCh37] Chr22:17008147..19770515 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3 | copy number gain | See cases [RCV000135733] | Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3 | copy number gain | See cases [RCV000135512] | Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:17299942..19038934 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1 | copy number loss | See cases [RCV000135619] | Chr22:18178957..20343532 [GRCh38] Chr22:18661724..20659606 [GRCh37] Chr22:17041724..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 | copy number gain | See cases [RCV000135519] | Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000135456] | Chr22:18339130..21207225 [GRCh38] Chr22:19058829..21561514 [GRCh37] Chr22:17438829..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 | copy number gain | See cases [RCV000136518] | Chr22:18178957..21307146 [GRCh38] Chr22:18661724..21661435 [GRCh37] Chr22:17041724..19991435 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1 | copy number loss | See cases [RCV000136577] | Chr22:18718488..20324240 [GRCh38] Chr22:18706001..20311763 [GRCh37] Chr22:17086001..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000136527] | Chr22:18339130..21151128 [GRCh38] Chr22:20311704..21505417 [GRCh37] Chr22:18691704..19835417 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 | copy number gain | See cases [RCV000135898] | Chr22:18339130..21003834 [GRCh38] Chr22:18908832..21358123 [GRCh37] Chr22:17288832..19688123 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 | copy number loss | See cases [RCV000136808] | Chr22:18339130..21028664 [GRCh38] Chr22:18896972..21382953 [GRCh37] Chr22:17276972..19712953 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000136677] | Chr22:18339130..21086225 [GRCh38] Chr22:19058829..21440514 [GRCh37] Chr22:17438829..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1 | copy number loss | See cases [RCV000136832] | Chr22:18909459..20324240 [GRCh38] Chr22:18896972..20311763 [GRCh37] Chr22:17276972..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 | copy number loss | See cases [RCV000136758] | Chr22:18339130..21441926 [GRCh38] Chr22:18891526..21796215 [GRCh37] Chr22:17271526..20126215 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 | copy number loss | See cases [RCV000137504] | Chr22:18178957..21107522 [GRCh38] Chr22:18661724..21461811 [GRCh37] Chr22:17041724..19791811 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 | copy number gain | See cases [RCV000138187] | Chr22:18339130..21454720 [GRCh38] Chr22:18894835..21809009 [GRCh37] Chr22:17274835..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3 | copy number gain | See cases [RCV000138026] | Chr22:18907322..20324261 [GRCh38] Chr22:18894835..20311784 [GRCh37] Chr22:17274835..18691784 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 | copy number loss | See cases [RCV000137985] | Chr22:18145252..21109830 [GRCh38] Chr22:18628019..21464119 [GRCh37] Chr22:17008019..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 | copy number loss | See cases [RCV000138169] | Chr22:18339130..21107522 [GRCh38] Chr22:18894835..21461811 [GRCh37] Chr22:17274835..19791811 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 | copy number gain | See cases [RCV000137927] | Chr22:18389245..21454720 [GRCh38] Chr22:20659547..21809009 [GRCh37] Chr22:18989547..20139009 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 | copy number loss | See cases [RCV000137960] | Chr22:18339130..21109830 [GRCh38] Chr22:18894835..21464119 [GRCh37] Chr22:17274835..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 | copy number loss | See cases [RCV000138671] | Chr22:18178957..21109830 [GRCh38] Chr22:18661724..21464119 [GRCh37] Chr22:17041724..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 | copy number loss | See cases [RCV000138354] | Chr22:18339130..21109830 [GRCh38] Chr22:18706001..21464119 [GRCh37] Chr22:17086001..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 | copy number gain | See cases [RCV000139316] | Chr22:18178932..22562620 [GRCh38] Chr22:18661699..22905025 [GRCh37] Chr22:17041699..21235025 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 | copy number gain | See cases [RCV000139000] | Chr22:18339130..21151156 [GRCh38] Chr22:18894820..21505445 [GRCh37] Chr22:17274820..19835445 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 | copy number gain | See cases [RCV000139955] | Chr22:18339130..21111373 [GRCh38] Chr22:18916828..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 | copy number loss | See cases [RCV000141233] | Chr22:18339130..23480799 [GRCh38] Chr22:20279766..23822986 [GRCh37] Chr22:18659766..22152986 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3 | copy number gain | See cases [RCV000141416] | Chr22:18178957..21107463 [GRCh38] Chr22:18661724..21461752 [GRCh37] Chr22:17041724..19791752 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18929315-20325138)x3 | copy number gain | See cases [RCV000140932] | Chr22:18929315..20325138 [GRCh38] Chr22:18916828..20312661 [GRCh37] Chr22:17296828..18692661 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 | copy number loss | See cases [RCV000140853] | Chr22:18339130..21109830 [GRCh38] Chr22:19035323..21464119 [GRCh37] Chr22:17415323..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 | copy number loss | See cases [RCV000140773] | Chr22:18339130..21101210 [GRCh38] Chr22:18999803..21455499 [GRCh37] Chr22:17379803..19785499 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1 | copy number loss | See cases [RCV000141995] | Chr22:18929329..20324335 [GRCh38] Chr22:18916842..20311858 [GRCh37] Chr22:17296842..18691858 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1 | copy number loss | See cases [RCV000141906] | Chr22:18929329..20325138 [GRCh38] Chr22:18916842..20312661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1 | copy number loss | See cases [RCV000141972] | Chr22:18339130..20686726 [GRCh38] Chr22:18916828..21041014 [GRCh37] Chr22:17296828..19371014 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 | copy number loss | See cases [RCV000141704] | Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 | copy number loss | See cases [RCV000141782] | Chr22:18339130..20980781 [GRCh38] Chr22:20277314..21335070 [GRCh37] Chr22:18657314..19665070 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 | copy number gain | See cases [RCV000141737] | Chr22:18157962..21111370 [GRCh38] Chr22:18640729..21465659 [GRCh37] Chr22:17020729..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 | copy number loss | See cases [RCV000141677] | Chr22:18339130..21450597 [GRCh38] Chr22:18916842..21804886 [GRCh37] Chr22:17296842..20134886 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 | copy number loss | See cases [RCV000142253] | Chr22:18166089..21111373 [GRCh38] Chr22:18648856..21465662 [GRCh37] Chr22:17028856..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 | copy number loss | See cases [RCV000142073] | Chr22:18339130..21111370 [GRCh38] Chr22:19024656..21465659 [GRCh37] Chr22:17404656..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 | copy number loss | See cases [RCV000142151] | Chr22:18161474..21111373 [GRCh38] Chr22:18644241..21465662 [GRCh37] Chr22:17024241..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 | copy number loss | See cases [RCV000142988] | Chr22:18389245..21109830 [GRCh38] Chr22:20659547..21464119 [GRCh37] Chr22:18989547..19794119 [NCBI36] Chr22:22q11.21 |
likely pathogenic|uncertain significance |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000142546] | Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:17299942..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 | copy number loss | See cases [RCV000142670] | Chr22:18389245..21151128 [GRCh38] Chr22:20659547..21505417 [GRCh37] Chr22:18989547..19835417 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 | copy number loss | See cases [RCV000142783] | Chr22:18178957..21454720 [GRCh38] Chr22:18661724..21809009 [GRCh37] Chr22:17041724..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 | copy number loss | See cases [RCV000142734] | Chr22:18339130..21307146 [GRCh38] Chr22:18765085..21661435 [GRCh37] Chr22:17145085..19991435 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 | copy number gain | See cases [RCV000142641] | Chr22:18339130..21447315 [GRCh38] Chr22:18919942..21801604 [GRCh37] Chr22:17299942..20131604 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 | copy number loss | See cases [RCV000143362] | Chr22:18339130..21111373 [GRCh38] Chr22:18916827..21465662 [GRCh37] Chr22:17296827..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 | copy number gain | See cases [RCV000143391] | Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:17296828..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 | copy number loss | See cases [RCV000143442] | Chr22:18339130..21111373 [GRCh38] Chr22:18970561..21465662 [GRCh37] Chr22:17350561..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 | copy number loss | See cases [RCV000143225] | Chr22:18339130..21111373 [GRCh38] Chr22:18916842..21465662 [GRCh37] Chr22:17296842..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 | copy number loss | See cases [RCV000143293] | Chr22:18339130..21111370 [GRCh38] Chr22:18876630..21465659 [GRCh37] Chr22:17256630..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 | copy number gain | See cases [RCV000143229] | Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 | copy number loss | See cases [RCV000143234] | Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:17296842..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 | copy number loss | See cases [RCV000143126] | Chr22:18339130..21111373 [GRCh38] Chr22:18916828..21465662 [GRCh37] Chr22:17296828..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 | copy number loss | See cases [RCV000148086] | Chr22:18339130..20671425 [GRCh38] Chr22:18706001..21025713 [GRCh37] Chr22:17086001..19355713 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000148047] | Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3 | copy number gain | See cases [RCV000143506] | Chr22:18929329..20325138 [GRCh38] Chr22:18916842..20312661 [GRCh37] Chr22:17296842..18692661 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000148287] | Chr22:18339130..20343532 [GRCh38] Chr22:18706001..20659606 [GRCh37] Chr22:17086001..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 | copy number gain | See cases [RCV000148257] | Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 | copy number gain | See cases [RCV000148102] | Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 | copy number gain | See cases [RCV000148103] | Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000148104] | Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000148206] | Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 | copy number loss | See cases [RCV000148160] | Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 | copy number loss | See cases [RCV000148168] | Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000148136] | Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 | copy number loss | See cases [RCV000148140] | Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 | copy number loss | See cases [RCV000148178] | Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 | copy number loss | See cases [RCV000148098] | Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 | copy number loss | See cases [RCV000148186] | Chr22:18178957..21207225 [GRCh38] Chr22:18661724..21561514 [GRCh37] Chr22:17041724..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000148100] | Chr22:18339130..21151128 [GRCh38] Chr22:18706001..21505417 [GRCh37] Chr22:17086001..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000148101] | Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 | copy number loss | See cases [RCV000050893] | Chr22:18389245..21207225 [GRCh38] Chr22:20659547..21561514 [GRCh37] Chr22:18989547..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000051944] | Chr22:18339130..21207225 [GRCh38] Chr22:20402633..21561514 [GRCh37] Chr22:18782633..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 | copy number loss | See cases [RCV000240142] | Chr22:18894339..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3 | copy number gain | See cases [RCV000240118] | Chr22:18894339..21032422 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-20255154)x1 | copy number loss | See cases [RCV000240154] | Chr22:18894339..20255154 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 | copy number loss | See cases [RCV000240087] | Chr22:18900442..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 | copy number gain | See cases [RCV000258792] | Chr22:17012935..21431054 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 | copy number loss | See cases [RCV000258811] | Chr22:18919579..21460595 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter) | single nucleotide variant | Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration [RCV001250177]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210334]|not provided [RCV002515582] | Chr22:20055980 [GRCh38] Chr22:20043503 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) | single nucleotide variant | Cardiac arrhythmia [RCV000210033]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210337]|not provided [RCV001857677] | Chr22:20061538 [GRCh38] Chr22:20049061 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
NM_152906.5(TANGO2):c.57-1743_*10769del | deletion | Cardiac arrhythmia [RCV000210032]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210339] | Chr22:20041612..20075431 [GRCh38] Chr22:20029135..20062954 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.5(TANGO2):c.57-1744_*10770del | deletion | Cardiac arrhythmia [RCV000210032] | Chr22:20029134..20062955 [GRCh37] | pathogenic |
NM_152906.5(TANGO2):c.146-3605_451+2245del | deletion | Cardiac arrhythmia [RCV000210034] | Chr22:20048860..20058258 [GRCh38] Chr22:20036383..20045781 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.605+1G>A | single nucleotide variant | Abnormality of metabolism/homeostasis [RCV001836751]|Cardiac arrhythmia [RCV000210035]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210343]|not provided [RCV000850088] | Chr22:20061684 [GRCh38] Chr22:20049207 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
NM_152906.7(TANGO2):c.146-3605_451+2245del | deletion | Cardiac arrhythmia [RCV000210034]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210336] | Chr22:20048860..20058258 [GRCh38] Chr22:20036383..20045781 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.4del (p.Cys2fs) | deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210340]|not provided [RCV001589106] | Chr22:20036802 [GRCh38] Chr22:20024325 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Autism spectrum disorder [RCV000225609] | Chr22:18874965..21028946 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 | copy number loss | Premature ovarian failure [RCV000225330] | Chr22:18738296..25914592 [GRCh37] Chr22:22q11.21-12.1 |
benign |
GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1 | copy number loss | See cases [RCV000239867] | Chr22:18894835..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x1 | copy number loss | See cases [RCV000239417] | Chr22:18844632..21463730 [GRCh37] Chr22:22q11.21 |
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 |
GRCh37/hg19 22q11.21(chr22:18661724-21025713)x3 | copy number gain | See cases [RCV000239914] | Chr22:18661724..21025713 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 | copy number gain | See cases [RCV000240570] | Chr22:18650664..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 | copy number gain | See cases [RCV000240348] | Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 | copy number gain | See cases [RCV000240483] | Chr22:17264511..23238029 [GRCh37] Chr22:22q11.1-11.22 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 | copy number loss | See cases [RCV000240303] | Chr22:19023801..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18900000-20500000) | copy number gain | Hypertelorism [RCV000626526] | Chr22:18900000..20500000 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele | deletion | 22q11.2 deletion syndrome [RCV003221321] | Chr22:18274663..21110254 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3 | copy number gain | See cases [RCV000449438] | Chr22:18640729..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 | copy number loss | See cases [RCV000449444] | Chr22:18916842..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 | copy number loss | See cases [RCV000449418] | Chr22:19024656..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x4 | copy number gain | See cases [RCV000449232] | Chr22:18916842..20716903 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 | copy number gain | See cases [RCV000446787] | Chr22:16888899..20311858 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 | copy number loss | See cases [RCV000446325] | Chr22:18916842..21465661 [GRCh37] Chr22:22q11.21 |
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 22q11.21(chr22:18916842-20716903)x1 | copy number loss | See cases [RCV000446341] | Chr22:18916842..20716903 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18970561-21465659)x3 | copy number gain | See cases [RCV000446476] | Chr22:18970561..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 | copy number gain | See cases [RCV000447318] | Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 | copy number loss | See cases [RCV000446495] | Chr22:18917047..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x3 | copy number gain | See cases [RCV000446626] | Chr22:18894339..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1 | copy number loss | See cases [RCV000446673] | Chr22:18648866..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 | copy number loss | See cases [RCV000447211] | Chr22:18644790..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 | copy number loss | See cases [RCV000446125] | Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19478208-20168230)x1 | copy number loss | See cases [RCV000446507] | Chr22:19478208..20168230 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024656-21465659)x3 | copy number gain | See cases [RCV000446638] | Chr22:19024656..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:19023801-21440455)x1 | copy number loss | See cases [RCV000446681] | Chr22:19023801..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18890042-21440455)x1 | copy number loss | See cases [RCV000446730] | Chr22:18890042..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 | copy number loss | See cases [RCV000446918] | Chr22:18916842..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024792-21465659)x3 | copy number gain | See cases [RCV000446402] | Chr22:19024792..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18937381-21465659)x3 | copy number gain | See cases [RCV000447496] | Chr22:18937381..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20312661)x3 | copy number gain | See cases [RCV000446449] | Chr22:18916842..20312661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3 | copy number gain | See cases [RCV000447019] | Chr22:18636748..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 | copy number loss | See cases [RCV000447026] | Chr22:18916842..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644772-21041014)x3 | copy number gain | See cases [RCV000446741] | Chr22:18644772..21041014 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 | copy number loss | See cases [RCV000446545] | Chr22:18644790..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 | copy number loss | See cases [RCV000447063] | Chr22:18648866..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 | copy number loss | See cases [RCV000446173] | Chr22:18650664..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1 | copy number loss | See cases [RCV000447176] | Chr22:18645353..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 | copy number loss | See cases [RCV000447508] | Chr22:18644790..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1 | copy number loss | See cases [RCV000446944] | Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.419G>A (p.Arg140Gln) | single nucleotide variant | not provided [RCV000443455] | Chr22:20055981 [GRCh38] Chr22:20043504 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 | copy number gain | See cases [RCV000445951] | Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 | copy number loss | See cases [RCV000445962] | Chr22:18916842..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 | copy number loss | See cases [RCV000445855] | Chr22:18916842..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.77G>A (p.Arg26Lys) | single nucleotide variant | not provided [RCV000424981] | Chr22:20043375 [GRCh38] Chr22:20030898 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.11T>A (p.Ile4Asn) | single nucleotide variant | not provided [RCV000440029] | Chr22:20036809 [GRCh38] Chr22:20024332 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.32G>A (p.Arg11His) | single nucleotide variant | not provided [RCV000422787] | Chr22:20036830 [GRCh38] Chr22:20024353 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000825574]|not provided [RCV000435649] | Chr22:20043392 [GRCh38] Chr22:20030915 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x3 | copy number gain | See cases [RCV000448486] | Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18637139-20289862) | copy number gain | Abnormal esophagus morphology [RCV000416656] | Chr22:18637139..20289862 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 | copy number gain | See cases [RCV000448925] | Chr22:18631979..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 | copy number loss | See cases [RCV000448538] | Chr22:18648866..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 | copy number gain | See cases [RCV000448166] | Chr22:18916842..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 | copy number loss | See cases [RCV000447793] | Chr22:18916827..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1 | copy number loss | See cases [RCV000448331] | Chr22:16888899..20716903 [GRCh37] Chr22:22q11.1-11.21 |
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 22q11.21(chr22:18644790-21465659)x1 | copy number loss | See cases [RCV000448762] | Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x1 | copy number loss | See cases [RCV000448077] | Chr22:18894339..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 | copy number gain | See cases [RCV000448770] | Chr22:18650664..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 | copy number gain | See cases [RCV000448224] | Chr22:16888899..23723805 [GRCh37] Chr22:22q11.1-11.23 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-20255110)x1 | copy number loss | See cases [RCV000447750] | Chr22:18894339..20255110 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20312661)x1 | copy number loss | See cases [RCV000447847] | Chr22:18916842..20312661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024657-21465662)x1 | copy number loss | See cases [RCV000510463] | Chr22:19024657..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.711-3C>G | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001764479]|not provided [RCV000498948] | Chr22:20064539 [GRCh38] Chr22:20052062 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20030782-20052415)x0 | copy number loss | TANGO2-Related disorder [RCV000509209] | Chr22:20030782..20052415 [GRCh37] Chr22:22q11.21 |
not provided |
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 | copy number loss | See cases [RCV000510221] | Chr22:18917047..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1 | copy number loss | See cases [RCV000510232] | Chr22:16888900..20026751 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18917047-21465662)x1 | copy number loss | See cases [RCV000510658] | Chr22:18917047..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 | copy number gain | See cases [RCV000510690] | Chr22:16888899..20311858 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916828-20312661)x1 | copy number loss | See cases [RCV000510556] | Chr22:18916828..20312661 [GRCh37] Chr22:22q11.21 |
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 22q11.21(chr22:18916828-21049800)x1 | copy number loss | See cases [RCV000510907] | Chr22:18916828..21049800 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.605+1G>C | single nucleotide variant | Inborn genetic diseases [RCV000622285] | Chr22:20061684 [GRCh38] Chr22:20049207 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
NC_000022.10:g.20029135_20062954del33820 | deletion | TANGO2-Related Metabolic Encephalopathy and Arrhythmias [RCV000558680] | Chr22:20029135..20062954 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 | copy number loss | See cases [RCV000512402] | Chr22:18916842..21804716 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 | copy number gain | See cases [RCV000512387] | Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21 |
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 |
GRCh37/hg19 22q11.21(chr22:18894835-20311763) | copy number loss | Astigmatism [RCV000626527] | Chr22:18894835..20311763 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894835-21505417) | copy number loss | Ear malformation [RCV000626528] | Chr22:18894835..21505417 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.451+16C>T | single nucleotide variant | not provided [RCV003825152] | Chr22:20056029 [GRCh38] Chr22:20043552 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 | copy number loss | See cases [RCV000663399] | Chr22:18886915..21811991 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-21050078)x3 | copy number gain | not provided [RCV000684505] | Chr22:18916827..21050078 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3 | copy number gain | not provided [RCV000684508] | Chr22:18970560..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 | copy number loss | not provided [RCV000684509] | Chr22:18935463..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 | copy number loss | not provided [RCV000684510] | Chr22:18916842..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-21465659)x3 | copy number gain | not provided [RCV000684511] | Chr22:18916827..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 | copy number loss | not provided [RCV000684513] | Chr22:18644542..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 | copy number loss | not provided [RCV000684514] | Chr22:18916842..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 | copy number loss | not provided [RCV000684517] | Chr22:18626108..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 | copy number loss | not provided [RCV000684519] | Chr22:18644790..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3 | copy number gain | not provided [RCV000684512] | Chr22:18645353..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 | copy number loss | not provided [RCV000684516] | Chr22:18648866..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 | copy number gain | not provided [RCV000684521] | Chr22:16888899..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20310938)x1 | copy number loss | not provided [RCV000684495] | Chr22:18916842..20310938 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20311858)x3 | copy number gain | not provided [RCV000684496] | Chr22:18916842..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18649189-20311858)x3 | copy number gain | not provided [RCV000684500] | Chr22:18649189..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 | copy number loss | not provided [RCV000684502] | Chr22:18916842..20716903 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20767095)x1 | copy number loss | not provided [RCV000684503] | Chr22:18916842..20767095 [GRCh37] Chr22:22q11.21 |
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 |
Single allele | deletion | Abnormal bleeding [RCV000852267] | Chr22:19709400..21142058 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000754642]|not provided [RCV001855851] | Chr22:20052575 [GRCh38] Chr22:20040098 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
NC_000022.11:g.(?_18159879)_(21362822_?)del | deletion | Schizophrenia [RCV000754240] | Chr22:18159879..21362822 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18159879)_(21387988_?)del | deletion | Schizophrenia [RCV000754241] | Chr22:18159879..21387988 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18163926)_(21277123_?)del | deletion | Schizophrenia [RCV000754242] | Chr22:18163926..21277123 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18802709)_(21343709_?)del | deletion | Schizophrenia [RCV000754243] | Chr22:18802709..21343709 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18832909)_(21123588_?)del | deletion | Schizophrenia [RCV000754244] | Chr22:18832909..21123588 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18880919)_(20346734_?)del | deletion | Schizophrenia [RCV000754246] | Chr22:18880919..20346734 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18880919)_(21123588_?)del | deletion | Schizophrenia [RCV000754247] | Chr22:18880919..21123588 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Autism [RCV000754248] | Chr22:18904453..20324329 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Autism [RCV000754249] | Chr22:18904453..21277123 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Autism [RCV000754250] | Chr22:19295635..21510330 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18846939)_(21221413_?)del | deletion | Schizophrenia [RCV000754245] | Chr22:18846939..21221413 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18675473-21465050)x3 | copy number gain | not provided [RCV000741726] | Chr22:18675473..21465050 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1 | copy number loss | not provided [RCV000741727] | Chr22:18728118..21811991 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x3 | copy number gain | not provided [RCV000741728] | Chr22:18844632..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21608479)x1 | copy number loss | not provided [RCV000741729] | Chr22:18844632..21608479 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18861748-21463730)x1 | copy number loss | not provided [RCV000741730] | Chr22:18861748..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18872508-21465050)x1 | copy number loss | not provided [RCV000741731] | Chr22:18872508..21465050 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18875869-21470273)x1 | copy number loss | not provided [RCV000741733] | Chr22:18875869..21470273 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18875956-21466715)x1 | copy number loss | not provided [RCV000741734] | Chr22:18875956..21466715 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18878409-21465050)x1 | copy number loss | not provided [RCV000741735] | Chr22:18878409..21465050 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18878409-21467387)x3 | copy number gain | not provided [RCV000741736] | Chr22:18878409..21467387 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1 | copy number loss | not provided [RCV000741737] | Chr22:18878409..21907671 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18884401-21467387)x3 | copy number gain | not provided [RCV000741738] | Chr22:18884401..21467387 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 | copy number loss | not provided [RCV000741739] | Chr22:18886915..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21465050)x1 | copy number loss | not provided [RCV000741740] | Chr22:18886915..21465050 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21467387)x1 | copy number loss | not provided [RCV000741741] | Chr22:18886915..21467387 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889490-20312668)x1 | copy number loss | not provided [RCV000741742] | Chr22:18889490..20312668 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889490-21466715)x1 | copy number loss | not provided [RCV000741743] | Chr22:18889490..21466715 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18891398-21463730)x3 | copy number gain | not provided [RCV000741744] | Chr22:18891398..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19016663-21463730)x1 | copy number loss | not provided [RCV000741747] | Chr22:19016663..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19758228-20761112)x1 | copy number loss | not provided [RCV000741753] | Chr22:19758228..20761112 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:20037315-20057143)x1 | copy number loss | not provided [RCV000741755] | Chr22:20037315..20057143 [GRCh37] Chr22:22q11.21 |
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 22q11.1-11.21(chr22:16114244-20737903)x3 | copy number gain | not provided [RCV000741690] | Chr22:16114244..20737903 [GRCh37] Chr22:22q11.1-11.21 |
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 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_152906.7(TANGO2):c.381-96C>T | single nucleotide variant | not provided [RCV001648088] | Chr22:20055847 [GRCh38] Chr22:20043370 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.711-15C>T | single nucleotide variant | not provided [RCV001565857] | Chr22:20064527 [GRCh38] Chr22:20052050 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1 | copy number loss | not provided [RCV001007166] | Chr22:18916842..21075592 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19819961-20098521)x1 | copy number loss | not provided [RCV001007168] | Chr22:19819961..20098521 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 | copy number loss | Velocardiofacial syndrome [RCV000788059] | Chr22:18636749..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.56+219C>G | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002272481]|not provided [RCV001577212] | Chr22:20037073 [GRCh38] Chr22:20024596 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3 | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000788063] | Chr22:18648855..21927646 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.711-103G>C | single nucleotide variant | not provided [RCV001546204] | Chr22:20064439 [GRCh38] Chr22:20051962 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.711-253G>A | single nucleotide variant | not provided [RCV001549910] | Chr22:20064289 [GRCh38] Chr22:20051812 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.*117C>A | single nucleotide variant | not provided [RCV001666804] | Chr22:20064779 [GRCh38] Chr22:20052302 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.51G>A (p.Ala17=) | single nucleotide variant | not provided [RCV000924040] | Chr22:20036849 [GRCh38] Chr22:20024372 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.789C>T (p.Ser263=) | single nucleotide variant | not provided [RCV000971090] | Chr22:20064620 [GRCh38] Chr22:20052143 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_152906.7(TANGO2):c.99C>T (p.Pro33=) | single nucleotide variant | not provided [RCV000928978] | Chr22:20043397 [GRCh38] Chr22:20030920 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18650803-21460220) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767593] | Chr22:18650803..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18901004-21408430) | copy number loss | DiGeorge syndrome [RCV000767594] | Chr22:18901004..21408430 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-20308800) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767597] | Chr22:18892575..20308800 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18900755-21075586) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767598] | Chr22:18900755..21075586 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912403-21431174) | copy number loss | DiGeorge syndrome [RCV000767629] | Chr22:18912403..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-21460220) | copy number loss | DiGeorge syndrome [RCV000767687] | Chr22:18892575..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.451+34G>A | single nucleotide variant | not provided [RCV001571269] | Chr22:20056047 [GRCh38] Chr22:20043570 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18916842-21033371)x1 | copy number loss | not provided [RCV001007165] | Chr22:18916842..21033371 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912514-21431174) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767689] | Chr22:18912514..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787412] | Chr22:18890264..21540347 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 | copy number loss | See cases [RCV000790601] | Chr22:18889490..21917190 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912870-21431174) | copy number loss | DiGeorge syndrome [RCV000767633] | Chr22:18912870..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18609712-21408430) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767590] | Chr22:18609712..21408430 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18611223-21408430) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767591] | Chr22:18611223..21408430 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912514-21922035) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767627] | Chr22:18912514..21922035 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-21460220) | copy number loss | DiGeorge syndrome [RCV000767692] | Chr22:18892575..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474) | copy number gain | not provided [RCV000767814] | Chr22:17072086..20130474 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767815] | Chr22:17289827..20311922 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
NM_152906.7(TANGO2):c.735T>G (p.Asp245Glu) | single nucleotide variant | not provided [RCV000962850] | Chr22:20064566 [GRCh38] Chr22:20052089 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.628G>A (p.Glu210Lys) | single nucleotide variant | not provided [RCV000968418] | Chr22:20063360 [GRCh38] Chr22:20050883 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 | copy number loss | Velocardiofacial syndrome [RCV000856641] | Chr22:18661724..21505417 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.316C>T (p.Leu106=) | single nucleotide variant | not provided [RCV000917657] | Chr22:20053487 [GRCh38] Chr22:20041010 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18650745-21460220) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767592] | Chr22:18650745..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-21460220) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767596] | Chr22:18892575..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650803-21386010) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767595] | Chr22:18650803..21386010 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18918741-20311922) | copy number loss | DiGeorge syndrome [RCV000767628] | Chr22:18918741..20311922 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18923898-21431174) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000767630] | Chr22:18923898..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Chromosome 22q11.2 microduplication syndrome [RCV003232578] | Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18900755-21800277) | copy number loss | DiGeorge syndrome [RCV000767747] | Chr22:18900755..21800277 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele | deletion | Deep venous thrombosis [RCV000852271] | Chr22:19710418..21142058 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20030822-20068490)x1 | copy number loss | not provided [RCV000845692] | Chr22:20030822..20068490 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.145+50G>C | single nucleotide variant | not provided [RCV000831364] | Chr22:20043493 [GRCh38] Chr22:20031016 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.145+14C>T | single nucleotide variant | not provided [RCV000842113] | Chr22:20043457 [GRCh38] Chr22:20030980 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.56+148C>T | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002501165]|not provided [RCV000833149] | Chr22:20037002 [GRCh38] Chr22:20024525 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 | copy number loss | Velocardiofacial syndrome [RCV000788056] | Chr22:18912231..21465672 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.605+134T>C | single nucleotide variant | not provided [RCV000844332] | Chr22:20061817 [GRCh38] Chr22:20049340 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:20030822-20041691)x1 | copy number loss | not provided [RCV000848722] | Chr22:20030822..20041691 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-20311858)x1 | copy number loss | not provided [RCV000849445] | Chr22:18916827..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20028563-20053554)x1 | copy number loss | not provided [RCV000846865] | Chr22:20028563..20053554 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.57-129C>A | single nucleotide variant | not provided [RCV000831363] | Chr22:20043226 [GRCh38] Chr22:20030749 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.145+136G>A | single nucleotide variant | not provided [RCV000831365] | Chr22:20043579 [GRCh38] Chr22:20031102 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 | copy number loss | not provided [RCV000846943] | Chr22:20030822..20053554 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 | copy number loss | Velocardiofacial syndrome [RCV000788058] | Chr22:18922151..21449911 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 | copy number loss | not provided [RCV000849965] | Chr22:20030822..20053554 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 | copy number loss | not provided [RCV000849777] | Chr22:20030822..20053554 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 | copy number gain | not provided [RCV000846815] | Chr22:16888899..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
NC_000022.11:g.(?_20043355)_(20064662_?)del | deletion | not provided [RCV000820579] | Chr22:20043355..20064662 [GRCh38] Chr22:20030878..20052185 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3 | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000788064] | Chr22:19819477..21464764 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Neurodevelopmental disorder [RCV000787416] | Chr22:18890264..21464056 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3 | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000788061] | Chr22:18648855..21461017 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.-39-109A>G | single nucleotide variant | not provided [RCV000844330] | Chr22:20036651 [GRCh38] Chr22:20024174 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.605+248A>G | single nucleotide variant | not provided [RCV000844342] | Chr22:20061931 [GRCh38] Chr22:20049454 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.605+259T>C | single nucleotide variant | not provided [RCV000844346] | Chr22:20061942 [GRCh38] Chr22:20049465 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.605+289G>A | single nucleotide variant | not provided [RCV000844347] | Chr22:20061972 [GRCh38] Chr22:20049495 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.265+113C>T | single nucleotide variant | not provided [RCV000831761] | Chr22:20052697 [GRCh38] Chr22:20040220 [GRCh37] Chr22:22q11.21 |
benign |
Single allele | duplication | Neurodevelopmental disorder [RCV000787407] | Chr22:17041669..20247250 [GRCh37] Chr22:22q11.1-11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 | copy number loss | Velocardiofacial syndrome [RCV000788057] | Chr22:18631364..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 | copy number loss | Velocardiofacial syndrome [RCV000788060] | Chr22:18919477..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3 | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV000788062] | Chr22:18937380..21459713 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20311858)x1 | copy number loss | not provided [RCV000846352] | Chr22:18916842..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 | copy number loss | not provided [RCV000847570] | Chr22:20030822..20053554 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 | copy number loss | not provided [RCV000848631] | Chr22:20030822..20053554 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1 | copy number loss | not provided [RCV001007159] | Chr22:16888899..20730144 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3 | copy number gain | not provided [RCV000845704] | Chr22:17055733..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 | copy number loss | See cases [RCV001194533] | Chr22:18886915..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.380+1G>A | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001004913] | Chr22:20053552 [GRCh38] Chr22:20041075 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1 | copy number loss | Autism [RCV000993708] | Chr22:20030799..20068380 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele | deletion | DiGeorge syndrome [RCV001003853] | Chr22:18475385..23764120 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
NM_152906.7(TANGO2):c.35_36del (p.Pro12fs) | deletion | not provided [RCV001008438] | Chr22:20036833..20036834 [GRCh38] Chr22:20024356..20024357 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20036384-20045784) | copy number loss | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001195111] | Chr22:20036384..20045784 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 | copy number loss | not provided [RCV000846848] | Chr22:20030822..20053554 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1 | copy number loss | not provided [RCV003312569] | Chr22:18893888..21481925 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000990375] | Chr22:20043393 [GRCh38] Chr22:20030916 [GRCh37] Chr22:22q11.21 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 | copy number loss | not provided [RCV000845818] | Chr22:20030822..20053554 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20029135-20062954) | copy number loss | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001195110] | Chr22:20029135..20062954 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.18948676_21110520dup | duplication | Chromosome 22q11.2 microduplication syndrome [RCV003313910] | Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.381-107A>C | single nucleotide variant | not provided [RCV001549558] | Chr22:20055836 [GRCh38] Chr22:20043359 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.711-137C>T | single nucleotide variant | not provided [RCV001576094] | Chr22:20064405 [GRCh38] Chr22:20051928 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.57-221A>T | single nucleotide variant | not provided [RCV001546373] | Chr22:20043134 [GRCh38] Chr22:20030657 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.452-190C>T | single nucleotide variant | not provided [RCV001651375] | Chr22:20061340 [GRCh38] Chr22:20048863 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.711-278C>T | single nucleotide variant | not provided [RCV001561436] | Chr22:20064264 [GRCh38] Chr22:20051787 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.380+158A>G | single nucleotide variant | not provided [RCV001562288] | Chr22:20053709 [GRCh38] Chr22:20041232 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.451+232C>T | single nucleotide variant | not provided [RCV001557574] | Chr22:20056245 [GRCh38] Chr22:20043768 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.451+94C>T | single nucleotide variant | not provided [RCV001571851] | Chr22:20056107 [GRCh38] Chr22:20043630 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.381-199A>C | single nucleotide variant | not provided [RCV001565615] | Chr22:20055744 [GRCh38] Chr22:20043267 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.605+209GGCCCA[5] | microsatellite | not provided [RCV001696419] | Chr22:20061891..20061892 [GRCh38] Chr22:20049414..20049415 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.381-95G>A | single nucleotide variant | not provided [RCV001546564] | Chr22:20055848 [GRCh38] Chr22:20043371 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.146-121C>T | single nucleotide variant | not provided [RCV001696698] | Chr22:20052344 [GRCh38] Chr22:20039867 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.714C>G (p.Thr238=) | single nucleotide variant | not provided [RCV000933453] | Chr22:20064545 [GRCh38] Chr22:20052068 [GRCh37] Chr22:22q11.21 |
likely benign |
NC_000022.10:g.(?_18900688)_(20052185_?)dup | duplication | not provided [RCV001031244] | Chr22:18900688..20052185 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.*235G>A | single nucleotide variant | not provided [RCV001637462] | Chr22:20064897 [GRCh38] Chr22:20052420 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1 | copy number loss | not provided [RCV002472511] | Chr22:18648867..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1 | copy number loss | not provided [RCV002472681] | Chr22:19647905..21153690 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.711-22G>A | single nucleotide variant | not provided [RCV001565565] | Chr22:20064520 [GRCh38] Chr22:20052043 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.*296C>A | single nucleotide variant | not provided [RCV001636118] | Chr22:20064958 [GRCh38] Chr22:20052481 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1 | copy number loss | not provided [RCV002473738] | Chr22:19046677..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1 | copy number loss | not provided [RCV002473925] | Chr22:18916828..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 | copy number gain | Cat eye syndrome [RCV001263219] | Chr22:16888899..26483608 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1 | copy number loss | not provided [RCV001537922] | Chr22:18889571..21464697 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.702C>T (p.Tyr234=) | single nucleotide variant | See cases [RCV002252697]|not provided [RCV001720816] | Chr22:20063434 [GRCh38] Chr22:20050957 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.606-161A>T | single nucleotide variant | not provided [RCV001593729] | Chr22:20063177 [GRCh38] Chr22:20050700 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.266-138dup | duplication | not provided [RCV001653118] | Chr22:20053298..20053299 [GRCh38] Chr22:20040821..20040822 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.710+14G>A | single nucleotide variant | not provided [RCV001637553] | Chr22:20063456 [GRCh38] Chr22:20050979 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.*257A>G | single nucleotide variant | not provided [RCV001721958] | Chr22:20064919 [GRCh38] Chr22:20052442 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.266-209T>G | single nucleotide variant | not provided [RCV001590623] | Chr22:20053228 [GRCh38] Chr22:20040751 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.605+79G>A | single nucleotide variant | not provided [RCV001656640] | Chr22:20061762 [GRCh38] Chr22:20049285 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.146-270G>A | single nucleotide variant | not provided [RCV001636324] | Chr22:20052195 [GRCh38] Chr22:20039718 [GRCh37] Chr22:22q11.21 |
benign |
Single allele | deletion | Inherited Immunodeficiency Diseases [RCV001027643] | Chr22:18789965..21591197 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1 | copy number loss | not provided [RCV001007156] | Chr22:16888899..20125005 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-20306993)x3 | copy number gain | See cases [RCV001007434] | Chr22:18892575..20306993 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.20042177_20075233del | deletion | Hereditary episodic ataxia [RCV001003866] | Chr22:20029700..20062756 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 | copy number loss | See cases [RCV001194516] | Chr22:18886915..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18970561-21040836)x3 | copy number gain | not provided [RCV001007167] | Chr22:18970561..21040836 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.605+38C>T | single nucleotide variant | not provided [RCV001708904] | Chr22:20061721 [GRCh38] Chr22:20049244 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18912403-21431174) | copy number loss | DiGeorge syndrome [RCV001195119] | Chr22:18912403..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 | copy number loss | See cases [RCV001194550] | Chr22:18844632..21797812 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 | copy number gain | not provided [RCV001007162] | Chr22:16888899..22290476 [GRCh37] Chr22:22q11.1-11.22 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 | copy number gain | not provided [RCV001007163] | Chr22:16888899..27657507 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1 | copy number loss | not provided [RCV001537920] | Chr22:18889693..21465485 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3 | copy number gain | See cases [RCV001263041] | Chr22:18628147..21722313 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 | copy number gain | not provided [RCV001259984] | Chr22:19035089..22672555 [GRCh37] Chr22:22q11.21-11.22 |
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 |
GRCh37/hg19 22q11.21(chr22:18916842-21011216)x1 | copy number loss | not provided [RCV001259980] | Chr22:18916842..21011216 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18917047-21465659) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV002280735] | Chr22:18917047..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-21804886) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV002280737] | Chr22:18916827..21804886 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 | copy number loss | See cases [RCV001263054] | Chr22:18661699..21457610 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.685G>A (p.Val229Met) | single nucleotide variant | Inborn genetic diseases [RCV003303479]|not provided [RCV001982621] | Chr22:20063417 [GRCh38] Chr22:20050940 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1 | copy number loss | See cases [RCV001263047] | Chr22:18765102..21661435 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del) | deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001264750] | Chr22:20061636..20061659 [GRCh38] Chr22:20049159..20049182 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 | copy number gain | not provided [RCV001537921] | Chr22:18889977..21463189 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.451+2T>A | single nucleotide variant | Inborn genetic diseases [RCV001266672] | Chr22:20056015 [GRCh38] Chr22:20043538 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3 | copy number gain | not provided [RCV001259978] | Chr22:19024656..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4 | copy number gain | not provided [RCV001259979] | Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele | deletion | Intellectual disability [RCV001293370] | Chr22:18886915..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.496A>G (p.Lys166Glu) | single nucleotide variant | not provided [RCV001320800] | Chr22:20061574 [GRCh38] Chr22:20049097 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18909044-21464119) | copy number gain | Cryptorchidism [RCV001291958] | Chr22:18909044..21464119 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.57-3C>T | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001328688]|not provided [RCV001863191] | Chr22:20043352 [GRCh38] Chr22:20030875 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.10:g.(?_18900688)_(21351637_?)del | deletion | DiGeorge syndrome [RCV001383366]|not provided [RCV001871994] | Chr22:18900688..21351637 [GRCh37] Chr22:22q11.21 |
pathogenic|no classifications from unflagged records |
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4 | copy number gain | not provided [RCV001270641] | Chr22:16800000..21500000 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 | copy number gain | Epilepsy [RCV001293650] | Chr22:18886915..21461017 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.20039637_20075714del | deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001376112] | Chr22:20039637..20075714 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889950-21466053)x1 | copy number loss | not provided [RCV001270642] | Chr22:18889950..21466053 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18628019-20311763) | copy number gain | Motor delay [RCV001291948] | Chr22:18628019..20311763 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele | deletion | DiGeorge syndrome [RCV001391672] | Chr22:18893882..21571027 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele | deletion | DiGeorge syndrome [RCV001391675] | Chr22:18893882..21563420 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.20041469_20075432del | deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001376113] | Chr22:20041469..20075432 [GRCh38] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.631G>C (p.Asp211His) | single nucleotide variant | not provided [RCV001476859] | Chr22:20063363 [GRCh38] Chr22:20050886 [GRCh37] Chr22:22q11.21 |
likely benign |
NC_000022.10:g.(?_20052065)_(20052185_?)del | deletion | not provided [RCV001389248] | Chr22:20052065..20052185 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3 | copy number gain | not provided [RCV001537919] | Chr22:18841374..21465101 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.451+164A>G | single nucleotide variant | not provided [RCV001688430] | Chr22:20056177 [GRCh38] Chr22:20043700 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 | copy number loss | See cases [RCV001526484] | Chr22:18889969..21462658 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.(?_20030878)_(20049206_?)del | deletion | not provided [RCV001389249] | Chr22:20030878..20049206 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.363C>T (p.Leu121=) | single nucleotide variant | not provided [RCV003108412] | Chr22:20053534 [GRCh38] Chr22:20041057 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.236C>G (p.Pro79Arg) | single nucleotide variant | See cases [RCV002252598] | Chr22:20052555 [GRCh38] Chr22:20040078 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.10:g.(?_17565982)_(20052185_?)del | deletion | Immunodeficiency 51 [RCV003122555]|Vasculitis due to ADA2 deficiency [RCV003107327] | Chr22:17565982..20052185 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
NM_152906.7(TANGO2):c.262C>T (p.Arg88Ter) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001761402]|not provided [RCV001868552] | Chr22:20052581 [GRCh38] Chr22:20040104 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.18948676_21110520del | deletion | Velocardiofacial syndrome [RCV003318485] | Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001761391] | Chr22:20043357 [GRCh38] Chr22:20030880 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.12CTT[1] (p.Phe6del) | microsatellite | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001761399] | Chr22:20036809..20036811 [GRCh38] Chr22:20024332..20024334 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1 | copy number loss | See cases [RCV002246178] | Chr22:18718028..21326012 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.18861209_21630630del | deletion | Megacolon [RCV001290034] | Chr22:18861209..21630630 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.703G>A (p.Gly235Ser) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001733570]|not provided [RCV002539836] | Chr22:20063435 [GRCh38] Chr22:20050958 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.487C>T (p.Pro163Ser) | single nucleotide variant | not provided [RCV001763478] | Chr22:20061565 [GRCh38] Chr22:20049088 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1 | copy number loss | See cases [RCV001780077] | Chr22:18884714..21483289 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18873001-21469900) | copy number gain | Cerebral palsy [RCV001796564] | Chr22:18873001..21469900 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1 | copy number loss | Schizophrenia [RCV001801223] | Chr22:19036286..21208284 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1 | copy number loss | Chromosome 22q11.2 deletion syndrome, distal [RCV001801214] | Chr22:18660135..21737597 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893344-21650280) | copy number loss | DiGeorge syndrome [RCV002280732] | Chr22:18893344..21650280 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18645353-21800797) | copy number loss | DiGeorge syndrome [RCV002280727] | Chr22:18645353..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21800471) | copy number loss | DiGeorge syndrome [RCV002280730] | Chr22:18644790..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21798907) | copy number loss | DiGeorge syndrome [RCV002280731] | Chr22:18648866..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.265G>T (p.Gly89Cys) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001761392] | Chr22:20052584 [GRCh38] Chr22:20040107 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.803G>A (p.Arg268Lys) | single nucleotide variant | not provided [RCV002001688] | Chr22:20064634 [GRCh38] Chr22:20052157 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.800C>T (p.Thr267Ile) | single nucleotide variant | not provided [RCV001988841] | Chr22:20064631 [GRCh38] Chr22:20052154 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.133G>A (p.Glu45Lys) | single nucleotide variant | not provided [RCV002040403] | Chr22:20043431 [GRCh38] Chr22:20030954 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.780G>C (p.Lys260Asn) | single nucleotide variant | not provided [RCV002025873] | Chr22:20064611 [GRCh38] Chr22:20052134 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.50C>T (p.Ala17Val) | single nucleotide variant | not provided [RCV001864506] | Chr22:20036848 [GRCh38] Chr22:20024371 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.73A>C (p.Asn25His) | single nucleotide variant | not provided [RCV002045556] | Chr22:20043371 [GRCh38] Chr22:20030894 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele | deletion | Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] | Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.415A>G (p.Asn139Asp) | single nucleotide variant | not provided [RCV001968823] | Chr22:20055977 [GRCh38] Chr22:20043500 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.439G>A (p.Val147Ile) | single nucleotide variant | not provided [RCV001984586] | Chr22:20056001 [GRCh38] Chr22:20043524 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.605+4A>C | single nucleotide variant | not provided [RCV001893281] | Chr22:20061687 [GRCh38] Chr22:20049210 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.632A>G (p.Asp211Gly) | single nucleotide variant | not provided [RCV002006331] | Chr22:20063364 [GRCh38] Chr22:20050887 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.662T>G (p.Leu221Arg) | single nucleotide variant | not provided [RCV001986989] | Chr22:20063394 [GRCh38] Chr22:20050917 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.145+5G>A | single nucleotide variant | not provided [RCV002039605] | Chr22:20043448 [GRCh38] Chr22:20030971 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.427C>G (p.Pro143Ala) | single nucleotide variant | not provided [RCV001913550] | Chr22:20055989 [GRCh38] Chr22:20043512 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.263G>A (p.Arg88Gln) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001823463]|not provided [RCV001869814] | Chr22:20052582 [GRCh38] Chr22:20040105 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.37G>C (p.Val13Leu) | single nucleotide variant | not provided [RCV001984344] | Chr22:20036835 [GRCh38] Chr22:20024358 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.381-2A>G | single nucleotide variant | not provided [RCV001968807] | Chr22:20055941 [GRCh38] Chr22:20043464 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.605C>T (p.Ala202Val) | single nucleotide variant | not provided [RCV001969282] | Chr22:20061683 [GRCh38] Chr22:20049206 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.472G>A (p.Ala158Thr) | single nucleotide variant | not provided [RCV001986453] | Chr22:20061550 [GRCh38] Chr22:20049073 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.607C>T (p.Gln203Ter) | single nucleotide variant | not provided [RCV001946912] | Chr22:20063339 [GRCh38] Chr22:20050862 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.602A>C (p.Glu201Ala) | single nucleotide variant | not provided [RCV001880314] | Chr22:20061680 [GRCh38] Chr22:20049203 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.692G>T (p.Cys231Phe) | single nucleotide variant | Inborn genetic diseases [RCV003289161]|not provided [RCV001888506] | Chr22:20063424 [GRCh38] Chr22:20050947 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.548C>T (p.Ala183Val) | single nucleotide variant | Inborn genetic diseases [RCV002550356]|not provided [RCV001942716] | Chr22:20061626 [GRCh38] Chr22:20049149 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.132C>A (p.Asn44Lys) | single nucleotide variant | not provided [RCV002027163] | Chr22:20043430 [GRCh38] Chr22:20030953 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.265+6G>A | single nucleotide variant | not provided [RCV001879218] | Chr22:20052590 [GRCh38] Chr22:20040113 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.557A>G (p.Lys186Arg) | single nucleotide variant | not provided [RCV001981101] | Chr22:20061635 [GRCh38] Chr22:20049158 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.497A>G (p.Lys166Arg) | single nucleotide variant | not provided [RCV001961960] | Chr22:20061575 [GRCh38] Chr22:20049098 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.119G>A (p.Trp40Ter) | single nucleotide variant | not provided [RCV001897283] | Chr22:20043417 [GRCh38] Chr22:20030940 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.445A>G (p.Thr149Ala) | single nucleotide variant | not provided [RCV001881308] | Chr22:20056007 [GRCh38] Chr22:20043530 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.397G>A (p.Val133Ile) | single nucleotide variant | Inborn genetic diseases [RCV003346715]|not provided [RCV001887971] | Chr22:20055959 [GRCh38] Chr22:20043482 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.689G>A (p.Arg230His) | single nucleotide variant | not provided [RCV002032111] | Chr22:20063421 [GRCh38] Chr22:20050944 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.10A>C (p.Ile4Leu) | single nucleotide variant | not provided [RCV002031995] | Chr22:20036808 [GRCh38] Chr22:20024331 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.196A>G (p.Thr66Ala) | single nucleotide variant | not provided [RCV002028262] | Chr22:20052515 [GRCh38] Chr22:20040038 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.508G>A (p.Gly170Arg) | single nucleotide variant | not provided [RCV002015032] | Chr22:20061586 [GRCh38] Chr22:20049109 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.265+7C>T | single nucleotide variant | not provided [RCV001978014] | Chr22:20052591 [GRCh38] Chr22:20040114 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.400A>G (p.Ile134Val) | single nucleotide variant | not provided [RCV001952033] | Chr22:20055962 [GRCh38] Chr22:20043485 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.331A>G (p.Met111Val) | single nucleotide variant | not provided [RCV001880656] | Chr22:20053502 [GRCh38] Chr22:20041025 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.350A>G (p.Asn117Ser) | single nucleotide variant | Inborn genetic diseases [RCV002571288]|not provided [RCV001995231] | Chr22:20053521 [GRCh38] Chr22:20041044 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.571_572delinsCT (p.Ala191Leu) | indel | not provided [RCV001876840] | Chr22:20061649..20061650 [GRCh38] Chr22:20049172..20049173 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.788C>T (p.Ser263Phe) | single nucleotide variant | not provided [RCV001994167] | Chr22:20064619 [GRCh38] Chr22:20052142 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.10:g.(?_18900688)_(21351637_?)dup | duplication | DiGeorge syndrome [RCV001952526] | Chr22:18900688..21351637 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.575G>C (p.Ser192Thr) | single nucleotide variant | not provided [RCV001936144] | Chr22:20061653 [GRCh38] Chr22:20049176 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.536A>G (p.Glu179Gly) | single nucleotide variant | not provided [RCV001902955] | Chr22:20061614 [GRCh38] Chr22:20049137 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.236C>T (p.Pro79Leu) | single nucleotide variant | not provided [RCV001974101] | Chr22:20052555 [GRCh38] Chr22:20040078 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.719C>G (p.Thr240Ser) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003224586]|not provided [RCV001905226] | Chr22:20064550 [GRCh38] Chr22:20052073 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.10:g.(?_19747167)_(20052185_?)dup | duplication | Primary dilated cardiomyopathy [RCV002011984] | Chr22:19747167..20052185 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.588G>A (p.Val196=) | single nucleotide variant | not provided [RCV002035718] | Chr22:20061666 [GRCh38] Chr22:20049189 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.446C>T (p.Thr149Met) | single nucleotide variant | not provided [RCV001867651] | Chr22:20056008 [GRCh38] Chr22:20043531 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.734A>G (p.Asp245Gly) | single nucleotide variant | not provided [RCV001921762] | Chr22:20064565 [GRCh38] Chr22:20052088 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.792C>A (p.His264Gln) | single nucleotide variant | not provided [RCV002012165] | Chr22:20064623 [GRCh38] Chr22:20052146 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.98C>T (p.Pro33Leu) | single nucleotide variant | not provided [RCV002046119] | Chr22:20043396 [GRCh38] Chr22:20030919 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.10:g.(?_20030858)_(20052185_?)del | deletion | not provided [RCV001951054] | Chr22:20030858..20052185 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.57-1G>A | single nucleotide variant | not provided [RCV001989193] | Chr22:20043354 [GRCh38] Chr22:20030877 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.620C>T (p.Pro207Leu) | single nucleotide variant | not provided [RCV002036508] | Chr22:20063352 [GRCh38] Chr22:20050875 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.538C>T (p.Arg180Trp) | single nucleotide variant | Inborn genetic diseases [RCV002625357]|not provided [RCV001989334] | Chr22:20061616 [GRCh38] Chr22:20049139 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.763C>T (p.Arg255Cys) | single nucleotide variant | not provided [RCV001906244] | Chr22:20064594 [GRCh38] Chr22:20052117 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.674C>T (p.Ala225Val) | single nucleotide variant | not provided [RCV001977244] | Chr22:20063406 [GRCh38] Chr22:20050929 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.673G>A (p.Ala225Thr) | single nucleotide variant | not provided [RCV001904757] | Chr22:20063405 [GRCh38] Chr22:20050928 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.571G>A (p.Ala191Thr) | single nucleotide variant | Inborn genetic diseases [RCV002563511]|TANGO2-related condition [RCV003418242]|not provided [RCV001980007] | Chr22:20061649 [GRCh38] Chr22:20049172 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.518T>C (p.Leu173Pro) | single nucleotide variant | not provided [RCV001905281] | Chr22:20061596 [GRCh38] Chr22:20049119 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.407A>G (p.Tyr136Cys) | single nucleotide variant | not provided [RCV002018509] | Chr22:20055969 [GRCh38] Chr22:20043492 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.763C>A (p.Arg255Ser) | single nucleotide variant | not provided [RCV002033700] | Chr22:20064594 [GRCh38] Chr22:20052117 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.31C>T (p.Arg11Cys) | single nucleotide variant | not provided [RCV001980253] | Chr22:20036829 [GRCh38] Chr22:20024352 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.320A>G (p.Lys107Arg) | single nucleotide variant | not provided [RCV001884377] | Chr22:20053491 [GRCh38] Chr22:20041014 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.539G>A (p.Arg180Gln) | single nucleotide variant | not provided [RCV001901657] | Chr22:20061617 [GRCh38] Chr22:20049140 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.298G>A (p.Val100Met) | single nucleotide variant | not provided [RCV001921250] | Chr22:20053469 [GRCh38] Chr22:20040992 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.260G>C (p.Gly87Ala) | single nucleotide variant | not provided [RCV002046671] | Chr22:20052579 [GRCh38] Chr22:20040102 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.338G>A (p.Gly113Asp) | single nucleotide variant | not provided [RCV001897648] | Chr22:20053509 [GRCh38] Chr22:20041032 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.381-4G>A | single nucleotide variant | not provided [RCV002186196] | Chr22:20055939 [GRCh38] Chr22:20043462 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.741C>T (p.Asp247=) | single nucleotide variant | not provided [RCV002185105] | Chr22:20064572 [GRCh38] Chr22:20052095 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.605+16C>G | single nucleotide variant | not provided [RCV002191081] | Chr22:20061699 [GRCh38] Chr22:20049222 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.605+20dup | duplication | not provided [RCV002110742] | Chr22:20061702..20061703 [GRCh38] Chr22:20049225..20049226 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.711-16C>G | single nucleotide variant | not provided [RCV002191329] | Chr22:20064526 [GRCh38] Chr22:20052049 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.372C>T (p.Ala124=) | single nucleotide variant | not provided [RCV002107820] | Chr22:20053543 [GRCh38] Chr22:20041066 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.57-9C>G | single nucleotide variant | not provided [RCV002147860] | Chr22:20043346 [GRCh38] Chr22:20030869 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.738G>A (p.Ala246=) | single nucleotide variant | not provided [RCV002169946] | Chr22:20064569 [GRCh38] Chr22:20052092 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_152906.7(TANGO2):c.605+11G>A | single nucleotide variant | not provided [RCV002126676] | Chr22:20061694 [GRCh38] Chr22:20049217 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.153C>T (p.Asp51=) | single nucleotide variant | not provided [RCV002109054] | Chr22:20052472 [GRCh38] Chr22:20039995 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.822G>A (p.Leu274=) | single nucleotide variant | not provided [RCV002194854] | Chr22:20064653 [GRCh38] Chr22:20052176 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.517C>T (p.Leu173Phe) | single nucleotide variant | not provided [RCV002114844] | Chr22:20061595 [GRCh38] Chr22:20049118 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.710+17G>C | single nucleotide variant | not provided [RCV002168982] | Chr22:20063459 [GRCh38] Chr22:20050982 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.237G>A (p.Pro79=) | single nucleotide variant | not provided [RCV002188212] | Chr22:20052556 [GRCh38] Chr22:20040079 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.606-16TC[2] | microsatellite | not provided [RCV002193430] | Chr22:20063322..20063323 [GRCh38] Chr22:20050845..20050846 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.711-18del | deletion | not provided [RCV002134554] | Chr22:20064522 [GRCh38] Chr22:20052045 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.266-11C>G | single nucleotide variant | not provided [RCV002196380] | Chr22:20053426 [GRCh38] Chr22:20040949 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.710+13C>T | single nucleotide variant | not provided [RCV002125354] | Chr22:20063455 [GRCh38] Chr22:20050978 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.146-15T>C | single nucleotide variant | not provided [RCV002148501] | Chr22:20052450 [GRCh38] Chr22:20039973 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.145+13G>T | single nucleotide variant | not provided [RCV002216283] | Chr22:20043456 [GRCh38] Chr22:20030979 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.266-12C>T | single nucleotide variant | not provided [RCV002166328] | Chr22:20053425 [GRCh38] Chr22:20040948 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.711-11C>G | single nucleotide variant | not provided [RCV002134731]|not specified [RCV002271721] | Chr22:20064531 [GRCh38] Chr22:20052054 [GRCh37] Chr22:22q11.21 |
likely benign|uncertain significance |
NM_152906.7(TANGO2):c.828C>T (p.Ser276=) | single nucleotide variant | not provided [RCV002212626] | Chr22:20064659 [GRCh38] Chr22:20052182 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.381-8G>T | single nucleotide variant | not provided [RCV002088716] | Chr22:20055935 [GRCh38] Chr22:20043458 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.396C>T (p.Asp132=) | single nucleotide variant | not provided [RCV002168154] | Chr22:20055958 [GRCh38] Chr22:20043481 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.229C>T (p.Leu77=) | single nucleotide variant | not provided [RCV002196575] | Chr22:20052548 [GRCh38] Chr22:20040071 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.648C>T (p.Tyr216=) | single nucleotide variant | not provided [RCV002125027] | Chr22:20063380 [GRCh38] Chr22:20050903 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.56+18C>T | single nucleotide variant | not provided [RCV002134244] | Chr22:20036872 [GRCh38] Chr22:20024395 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.297C>T (p.Asp99=) | single nucleotide variant | not provided [RCV002173710] | Chr22:20053468 [GRCh38] Chr22:20040991 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.18T>C (p.Phe6=) | single nucleotide variant | not provided [RCV002171943] | Chr22:20036816 [GRCh38] Chr22:20024339 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.451+11C>T | single nucleotide variant | not provided [RCV002080482] | Chr22:20056024 [GRCh38] Chr22:20043547 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.627C>T (p.Ile209=) | single nucleotide variant | not provided [RCV002169962] | Chr22:20063359 [GRCh38] Chr22:20050882 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.605+10C>T | single nucleotide variant | not provided [RCV002095202] | Chr22:20061693 [GRCh38] Chr22:20049216 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.266-17C>A | single nucleotide variant | not provided [RCV002147071] | Chr22:20053420 [GRCh38] Chr22:20040943 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.471C>T (p.Asn157=) | single nucleotide variant | not provided [RCV002175654] | Chr22:20061549 [GRCh38] Chr22:20049072 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 | copy number loss | See cases [RCV002246175] | Chr22:18884514..21484289 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.309G>A (p.Leu103=) | single nucleotide variant | not provided [RCV002198939] | Chr22:20053480 [GRCh38] Chr22:20041003 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.452-4A>T | single nucleotide variant | not provided [RCV002140372] | Chr22:20061526 [GRCh38] Chr22:20049049 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.605+10C>A | single nucleotide variant | not provided [RCV002164738] | Chr22:20061693 [GRCh38] Chr22:20049216 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.710+8A>C | single nucleotide variant | not provided [RCV002154031] | Chr22:20063450 [GRCh38] Chr22:20050973 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.57-10C>T | single nucleotide variant | not provided [RCV002137534] | Chr22:20043345 [GRCh38] Chr22:20030868 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.145+18C>A | single nucleotide variant | not provided [RCV002160073] | Chr22:20043461 [GRCh38] Chr22:20030984 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.380+16G>T | single nucleotide variant | not provided [RCV002175905] | Chr22:20053567 [GRCh38] Chr22:20041090 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.465G>A (p.Leu155=) | single nucleotide variant | not provided [RCV002181675] | Chr22:20061543 [GRCh38] Chr22:20049066 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.609G>A (p.Gln203=) | single nucleotide variant | not provided [RCV002098582] | Chr22:20063341 [GRCh38] Chr22:20050864 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.747C>T (p.His249=) | single nucleotide variant | not provided [RCV002176078] | Chr22:20064578 [GRCh38] Chr22:20052101 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.459C>T (p.Tyr153=) | single nucleotide variant | not provided [RCV002156953] | Chr22:20061537 [GRCh38] Chr22:20049060 [GRCh37] Chr22:22q11.21 |
likely benign |
Single allele | deletion | Velocardiofacial syndrome [RCV002247726] | Chr22:18948677..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.452-19C>T | single nucleotide variant | not provided [RCV002082673] | Chr22:20061511 [GRCh38] Chr22:20049034 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.48C>T (p.Asn16=) | single nucleotide variant | not provided [RCV002101229] | Chr22:20036846 [GRCh38] Chr22:20024369 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.549G>A (p.Ala183=) | single nucleotide variant | not provided [RCV002144386] | Chr22:20061627 [GRCh38] Chr22:20049150 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.447G>A (p.Thr149=) | single nucleotide variant | not provided [RCV002135730] | Chr22:20056009 [GRCh38] Chr22:20043532 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.56+11C>T | single nucleotide variant | not provided [RCV002121627] | Chr22:20036865 [GRCh38] Chr22:20024388 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.570C>T (p.Ile190=) | single nucleotide variant | not provided [RCV002143030] | Chr22:20061648 [GRCh38] Chr22:20049171 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.675G>A (p.Ala225=) | single nucleotide variant | not provided [RCV002120742] | Chr22:20063407 [GRCh38] Chr22:20050930 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.56+13C>T | single nucleotide variant | not provided [RCV002155699] | Chr22:20036867 [GRCh38] Chr22:20024390 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.417C>T (p.Asn139=) | single nucleotide variant | not provided [RCV002177805] | Chr22:20055979 [GRCh38] Chr22:20043502 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.380+19G>T | single nucleotide variant | not provided [RCV002136078] | Chr22:20053570 [GRCh38] Chr22:20041093 [GRCh37] Chr22:22q11.21 |
benign |
NM_152906.7(TANGO2):c.438C>T (p.Ile146=) | single nucleotide variant | not provided [RCV002082495] | Chr22:20056000 [GRCh38] Chr22:20043523 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.145+15G>A | single nucleotide variant | not provided [RCV002161313] | Chr22:20043458 [GRCh38] Chr22:20030981 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.348C>T (p.Tyr116=) | single nucleotide variant | not provided [RCV003115933] | Chr22:20053519 [GRCh38] Chr22:20041042 [GRCh37] Chr22:22q11.21 |
likely benign |
NC_000022.10:g.(?_20039968)_(20043556_?)del | deletion | not provided [RCV003113751] | Chr22:20039968..20043556 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.(?_20039968)_(20052185_?)dup | duplication | not provided [RCV003113752] | Chr22:20039968..20052185 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.287T>G (p.Leu96Arg) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152831] | Chr22:20053458 [GRCh38] Chr22:20040981 [GRCh37] Chr22:22q11.21 |
uncertain significance |
L20R | variation | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152416] | pathogenic | |
NM_152906.7(TANGO2):c.56+122_56+131del | deletion | not provided [RCV003443017]|not specified [RCV002271955] | Chr22:20036973..20036982 [GRCh38] Chr22:20024496..20024505 [GRCh37] Chr22:22q11.21 |
benign|uncertain significance |
GRCh37/hg19 22q11.21(chr22:18644790-21798907) | copy number loss | DiGeorge syndrome [RCV002280728] | Chr22:18644790..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21798907) | copy number loss | DiGeorge syndrome [RCV002280729] | Chr22:18916842..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.280del (p.His94fs) | deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002290394] | Chr22:20053449 [GRCh38] Chr22:20040972 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1 | copy number loss | Syndromic anorectal malformation [RCV002286606] | Chr22:18644702..21467607 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1 | copy number loss | not provided [RCV002276112] | Chr22:18893888..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 | copy number loss | See cases [RCV002292204] | Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.430G>A (p.Asp144Asn) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002266600] | Chr22:20055992 [GRCh38] Chr22:20043515 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV002280738] | Chr22:16888899..21915509 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
NM_152906.7(TANGO2):c.359A>G (p.Asn120Ser) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002290265] | Chr22:20053530 [GRCh38] Chr22:20041053 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3 | copy number gain | not provided [RCV002293073] | Chr22:18893888..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1 | copy number loss | Syndromic anorectal malformation [RCV002286609] | Chr22:18718623..21563155 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 | copy number loss | See cases [RCV002287573] | Chr22:18644542..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.443T>G (p.Leu148Trp) | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003140871] | Chr22:20056005 [GRCh38] Chr22:20043528 [GRCh37] Chr22:22q11.21 |
uncertain significance |
TANGO2, 1-BP DEL, 280C | deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152415] | pathogenic | |
NM_152906.7(TANGO2):c.161A>T (p.Glu54Val) | single nucleotide variant | not provided [RCV003011975] | Chr22:20052480 [GRCh38] Chr22:20040003 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3 | copy number gain | not provided [RCV002473937] | Chr22:18648867..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 | copy number loss | not provided [RCV002473959] | Chr22:18644543..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1 | copy number loss | not provided [RCV002474582] | Chr22:18916843..21075592 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 | copy number loss | not provided [RCV002474586] | Chr22:18916843..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 | copy number loss | not provided [RCV002473950] | Chr22:18916843..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 | copy number loss | not provided [RCV002472532] | Chr22:18916843..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1 | copy number loss | not provided [RCV002474720] | Chr22:18644791..21041014 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1 | copy number loss | not provided [RCV002473556] | Chr22:18916843..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3 | copy number gain | not provided [RCV002472883] | Chr22:18648867..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1 | copy number loss | not provided [RCV002474524] | Chr22:19336598..21208828 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1 | copy number loss | not provided [RCV002472535] | Chr22:18916843..21033401 [GRCh37] Chr22:22q11.21 |
pathogenic |
R88* | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152417] | pathogenic | |
NG_046857.1:g.52540C>G | single nucleotide variant | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152418] | pathogenic | |
GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3 | copy number gain | not provided [RCV002472508] | Chr22:18916843..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 | copy number gain | not provided [RCV002472525] | Chr22:18916843..21804563 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.649G>A (p.Val217Met) | single nucleotide variant | not provided [RCV003032461] | Chr22:20063381 [GRCh38] Chr22:20050904 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.698G>A (p.Gly233Asp) | single nucleotide variant | not provided [RCV002842178] | Chr22:20063430 [GRCh38] Chr22:20050953 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1 | copy number loss | not provided [RCV002512210] | Chr22:18834445..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 | copy number loss | not provided [RCV002512212] | Chr22:18894078..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.623C>A (p.Ala208Asp) | single nucleotide variant | not provided [RCV002750599] | Chr22:20063355 [GRCh38] Chr22:20050878 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.391G>A (p.Gly131Arg) | single nucleotide variant | not provided [RCV002948043] | Chr22:20055953 [GRCh38] Chr22:20043476 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.95G>C (p.Arg32Pro) | single nucleotide variant | Inborn genetic diseases [RCV002864251] | Chr22:20043393 [GRCh38] Chr22:20030916 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.56+6C>T | single nucleotide variant | not provided [RCV002972024] | Chr22:20036860 [GRCh38] Chr22:20024383 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.107T>G (p.Leu36Ter) | single nucleotide variant | not provided [RCV003015072] | Chr22:20043405 [GRCh38] Chr22:20030928 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.494G>A (p.Arg165Lys) | single nucleotide variant | not provided [RCV002734828] | Chr22:20061572 [GRCh38] Chr22:20049095 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 | copy number loss | not provided [RCV002512211] | Chr22:18893888..21570386 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.56+12G>T | single nucleotide variant | not provided [RCV002618051] | Chr22:20036866 [GRCh38] Chr22:20024389 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.564G>A (p.Val188=) | single nucleotide variant | not provided [RCV002881165] | Chr22:20061642 [GRCh38] Chr22:20049165 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.523C>T (p.Leu175=) | single nucleotide variant | not provided [RCV003014894] | Chr22:20061601 [GRCh38] Chr22:20049124 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.787T>C (p.Ser263Pro) | single nucleotide variant | not provided [RCV002615542] | Chr22:20064618 [GRCh38] Chr22:20052141 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.780G>A (p.Lys260=) | single nucleotide variant | not provided [RCV002994110] | Chr22:20064611 [GRCh38] Chr22:20052134 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1 | copy number loss | not provided [RCV002512213] | Chr22:19184000..21416024 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.96A>T (p.Arg32=) | single nucleotide variant | not provided [RCV002685841] | Chr22:20043394 [GRCh38] Chr22:20030917 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.539G>C (p.Arg180Pro) | single nucleotide variant | not provided [RCV003097615] | Chr22:20061617 [GRCh38] Chr22:20049140 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.132C>T (p.Asn44=) | single nucleotide variant | not provided [RCV002740521] | Chr22:20043430 [GRCh38] Chr22:20030953 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.266-15G>C | single nucleotide variant | not provided [RCV002825172] | Chr22:20053422 [GRCh38] Chr22:20040945 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.621G>A (p.Pro207=) | single nucleotide variant | not provided [RCV002785240] | Chr22:20063353 [GRCh38] Chr22:20050876 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.36T>A (p.Pro12=) | single nucleotide variant | not provided [RCV002889793] | Chr22:20036834 [GRCh38] Chr22:20024357 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.451+9G>C | single nucleotide variant | not provided [RCV002867623] | Chr22:20056022 [GRCh38] Chr22:20043545 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.265+17G>A | single nucleotide variant | not provided [RCV002705460] | Chr22:20052601 [GRCh38] Chr22:20040124 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.87C>G (p.Phe29Leu) | single nucleotide variant | not provided [RCV002705486] | Chr22:20043385 [GRCh38] Chr22:20030908 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.606-10C>A | single nucleotide variant | not provided [RCV002637679] | Chr22:20063328 [GRCh38] Chr22:20050851 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.57-20G>A | single nucleotide variant | not provided [RCV003038115] | Chr22:20043335 [GRCh38] Chr22:20030858 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.774G>A (p.Met258Ile) | single nucleotide variant | not provided [RCV002569932] | Chr22:20064605 [GRCh38] Chr22:20052128 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.64T>C (p.Leu22=) | single nucleotide variant | not provided [RCV002824920] | Chr22:20043362 [GRCh38] Chr22:20030885 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.716A>G (p.Asn239Ser) | single nucleotide variant | not provided [RCV002913438] | Chr22:20064547 [GRCh38] Chr22:20052070 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.56+9C>T | single nucleotide variant | not provided [RCV002781550] | Chr22:20036863 [GRCh38] Chr22:20024386 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.781G>C (p.Asp261His) | single nucleotide variant | not provided [RCV002695632] | Chr22:20064612 [GRCh38] Chr22:20052135 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.360C>T (p.Asn120=) | single nucleotide variant | not provided [RCV002825047] | Chr22:20053531 [GRCh38] Chr22:20041054 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.49G>A (p.Ala17Thr) | single nucleotide variant | not provided [RCV002795824] | Chr22:20036847 [GRCh38] Chr22:20024370 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.140T>C (p.Leu47Pro) | single nucleotide variant | not provided [RCV002659066] | Chr22:20043438 [GRCh38] Chr22:20030961 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.764G>A (p.Arg255His) | single nucleotide variant | not provided [RCV002666864] | Chr22:20064595 [GRCh38] Chr22:20052118 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.330T>C (p.Ser110=) | single nucleotide variant | not provided [RCV002745262] | Chr22:20053501 [GRCh38] Chr22:20041024 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.57-16T>A | single nucleotide variant | not provided [RCV002745705] | Chr22:20043339 [GRCh38] Chr22:20030862 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.354C>T (p.Gly118=) | single nucleotide variant | not provided [RCV002666656] | Chr22:20053525 [GRCh38] Chr22:20041048 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.265+15G>A | single nucleotide variant | not provided [RCV002958198] | Chr22:20052599 [GRCh38] Chr22:20040122 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.114C>T (p.Asp38=) | single nucleotide variant | not provided [RCV002627160] | Chr22:20043412 [GRCh38] Chr22:20030935 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.146-17A>G | single nucleotide variant | not provided [RCV002643460] | Chr22:20052448 [GRCh38] Chr22:20039971 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.559G>T (p.Asp187Tyr) | single nucleotide variant | not provided [RCV003081962] | Chr22:20061637 [GRCh38] Chr22:20049160 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.742G>A (p.Gly248Ser) | single nucleotide variant | Inborn genetic diseases [RCV002930234] | Chr22:20064573 [GRCh38] Chr22:20052096 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.674C>A (p.Ala225Glu) | single nucleotide variant | not provided [RCV002710712] | Chr22:20063406 [GRCh38] Chr22:20050929 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.380+18G>A | single nucleotide variant | not provided [RCV002710431] | Chr22:20053569 [GRCh38] Chr22:20041092 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.257G>A (p.Arg86Gln) | single nucleotide variant | not provided [RCV002594900] | Chr22:20052576 [GRCh38] Chr22:20040099 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.57-1G>C | single nucleotide variant | not provided [RCV002508866] | Chr22:20043354 [GRCh38] Chr22:20030877 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.569_592dup (p.Leu197_Asn198insIleAlaSerLeuLeuAspValLeu) | duplication | not provided [RCV003022592] | Chr22:20061635..20061636 [GRCh38] Chr22:20049158..20049159 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.56+4A>G | single nucleotide variant | not provided [RCV002851116] | Chr22:20036858 [GRCh38] Chr22:20024381 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.650T>C (p.Val217Ala) | single nucleotide variant | Inborn genetic diseases [RCV002765097] | Chr22:20063382 [GRCh38] Chr22:20050905 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.606-20C>T | single nucleotide variant | not provided [RCV002790624] | Chr22:20063318 [GRCh38] Chr22:20050841 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.52T>A (p.Tyr18Asn) | single nucleotide variant | not provided [RCV002828757] | Chr22:20036850 [GRCh38] Chr22:20024373 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.318G>A (p.Leu106=) | single nucleotide variant | not provided [RCV002643085] | Chr22:20053489 [GRCh38] Chr22:20041012 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.682T>C (p.Cys228Arg) | single nucleotide variant | not provided [RCV002801929] | Chr22:20063414 [GRCh38] Chr22:20050937 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.60C>T (p.Leu20=) | single nucleotide variant | not provided [RCV002667538] | Chr22:20043358 [GRCh38] Chr22:20030881 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.711-19G>A | single nucleotide variant | not provided [RCV002851538] | Chr22:20064523 [GRCh38] Chr22:20052046 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.455C>T (p.Thr152Ile) | single nucleotide variant | not provided [RCV003065854] | Chr22:20061533 [GRCh38] Chr22:20049056 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.145+14C>A | single nucleotide variant | not provided [RCV002650185] | Chr22:20043457 [GRCh38] Chr22:20030980 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.328T>G (p.Ser110Ala) | single nucleotide variant | not provided [RCV002720960] | Chr22:20053499 [GRCh38] Chr22:20041022 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.721A>G (p.Ile241Val) | single nucleotide variant | not provided [RCV002646271] | Chr22:20064552 [GRCh38] Chr22:20052075 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.145+1G>A | single nucleotide variant | not provided [RCV002631343] | Chr22:20043444 [GRCh38] Chr22:20030967 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.672C>T (p.Tyr224=) | single nucleotide variant | not provided [RCV002577286] | Chr22:20063404 [GRCh38] Chr22:20050927 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.737C>T (p.Ala246Val) | single nucleotide variant | Inborn genetic diseases [RCV003357976]|not provided [RCV002671691] | Chr22:20064568 [GRCh38] Chr22:20052091 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.56+10T>C | single nucleotide variant | not provided [RCV002627691] | Chr22:20036864 [GRCh38] Chr22:20024387 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.759T>C (p.Thr253=) | single nucleotide variant | not provided [RCV003047086] | Chr22:20064590 [GRCh38] Chr22:20052113 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.6C>T (p.Cys2=) | single nucleotide variant | not provided [RCV002646960] | Chr22:20036804 [GRCh38] Chr22:20024327 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.56+5C>A | single nucleotide variant | not provided [RCV003045470] | Chr22:20036859 [GRCh38] Chr22:20024382 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.399C>A (p.Val133=) | single nucleotide variant | not provided [RCV002632216] | Chr22:20055961 [GRCh38] Chr22:20043484 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.679G>A (p.Val227Met) | single nucleotide variant | not provided [RCV003009228] | Chr22:20063411 [GRCh38] Chr22:20050934 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.625A>G (p.Ile209Val) | single nucleotide variant | not provided [RCV003027731] | Chr22:20063357 [GRCh38] Chr22:20050880 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.601G>A (p.Glu201Lys) | single nucleotide variant | Inborn genetic diseases [RCV002720086]|not provided [RCV002720087] | Chr22:20061679 [GRCh38] Chr22:20049202 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.473C>T (p.Ala158Val) | single nucleotide variant | not provided [RCV002631128] | Chr22:20061551 [GRCh38] Chr22:20049074 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.465G>T (p.Leu155=) | single nucleotide variant | not provided [RCV002895226] | Chr22:20061543 [GRCh38] Chr22:20049066 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.730G>C (p.Val244Leu) | single nucleotide variant | not provided [RCV002580127] | Chr22:20064561 [GRCh38] Chr22:20052084 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.719C>T (p.Thr240Ile) | single nucleotide variant | not provided [RCV002720171] | Chr22:20064550 [GRCh38] Chr22:20052073 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.756C>T (p.Phe252=) | single nucleotide variant | not provided [RCV002650481] | Chr22:20064587 [GRCh38] Chr22:20052110 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.56+12G>A | single nucleotide variant | not provided [RCV002649739] | Chr22:20036866 [GRCh38] Chr22:20024389 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.130A>T (p.Asn44Tyr) | single nucleotide variant | not provided [RCV002899902] | Chr22:20043428 [GRCh38] Chr22:20030951 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.57-13T>C | single nucleotide variant | not provided [RCV002962916] | Chr22:20043342 [GRCh38] Chr22:20030865 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.670T>G (p.Tyr224Asp) | single nucleotide variant | not provided [RCV002658188] | Chr22:20063402 [GRCh38] Chr22:20050925 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.373G>A (p.Asp125Asn) | single nucleotide variant | not provided [RCV002634546] | Chr22:20053544 [GRCh38] Chr22:20041067 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.145+17G>T | single nucleotide variant | not provided [RCV002676868] | Chr22:20043460 [GRCh38] Chr22:20030983 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.266-5T>C | single nucleotide variant | not provided [RCV002603806] | Chr22:20053432 [GRCh38] Chr22:20040955 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.146-11A>G | single nucleotide variant | not provided [RCV002725421] | Chr22:20052454 [GRCh38] Chr22:20039977 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.1A>G (p.Met1Val) | single nucleotide variant | not provided [RCV002607549] | Chr22:20036799 [GRCh38] Chr22:20024322 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.606-7C>T | single nucleotide variant | not provided [RCV002653063] | Chr22:20063331 [GRCh38] Chr22:20050854 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.666C>A (p.Ser222Arg) | single nucleotide variant | not provided [RCV003067917] | Chr22:20063398 [GRCh38] Chr22:20050921 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.688C>T (p.Arg230Cys) | single nucleotide variant | not provided [RCV002634764] | Chr22:20063420 [GRCh38] Chr22:20050943 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.228C>T (p.Tyr76=) | single nucleotide variant | not provided [RCV002653306] | Chr22:20052547 [GRCh38] Chr22:20040070 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.187G>T (p.Gly63Cys) | single nucleotide variant | not provided [RCV002676754] | Chr22:20052506 [GRCh38] Chr22:20040029 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele | deletion | See cases [RCV003154622] | Chr22:18893886..21386103 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.20041466_20075200del | deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003225640] | Chr22:20041466..20075200 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20311810) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV003319586] | Chr22:18916842..20311810 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.422G>A (p.Gly141Glu) | single nucleotide variant | Inborn genetic diseases [RCV003309664] | Chr22:20055984 [GRCh38] Chr22:20043507 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 | copy number loss | DiGeorge syndrome [RCV003327705] | Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3 | copy number gain | Chromosome 22q11.2 deletion syndrome, distal [RCV003329514]|Velocardiofacial syndrome [RCV003329513] | Chr22:18893838..21416074 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3 | copy number gain | Chromosome 22q11.2 deletion syndrome, distal [RCV003329495] | Chr22:18893838..20508931 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1 | copy number loss | DiGeorge syndrome [RCV003329526] | Chr22:18893838..20307561 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.594C>T (p.Asn198=) | single nucleotide variant | not provided [RCV003569335] | Chr22:20061672 [GRCh38] Chr22:20049195 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 | copy number loss | not provided [RCV003457105] | Chr22:18893888..21563415 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.45A>G (p.Lys15=) | single nucleotide variant | not provided [RCV003873695] | Chr22:20036843 [GRCh38] Chr22:20024366 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.681G>C (p.Val227=) | single nucleotide variant | not provided [RCV003570714] | Chr22:20063413 [GRCh38] Chr22:20050936 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3 | copy number gain | not provided [RCV003485235] | Chr22:18916843..20716903 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1 | copy number loss | not provided [RCV003483389] | Chr22:17832142..20945625 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
Single allele | deletion | not provided [RCV003448686] | Chr22:20028654..20061617 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3 | copy number gain | Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444168] | Chr22:18856290..21070117 [GRCh38] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.549G>T (p.Ala183=) | single nucleotide variant | not provided [RCV003431632] | Chr22:20061627 [GRCh38] Chr22:20049150 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.710+143G>C | single nucleotide variant | not provided [RCV003441402] | Chr22:20063585 [GRCh38] Chr22:20051108 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.265+12G>A | single nucleotide variant | not provided [RCV003693014] | Chr22:20052596 [GRCh38] Chr22:20040119 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.710+16G>T | single nucleotide variant | not provided [RCV003693057] | Chr22:20063458 [GRCh38] Chr22:20050981 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.474G>A (p.Ala158=) | single nucleotide variant | not provided [RCV003825698] | Chr22:20061552 [GRCh38] Chr22:20049075 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.189C>T (p.Gly63=) | single nucleotide variant | not provided [RCV003696737] | Chr22:20052508 [GRCh38] Chr22:20040031 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.710+20G>A | single nucleotide variant | not provided [RCV003828585] | Chr22:20063462 [GRCh38] Chr22:20050985 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.710+8dup | duplication | not provided [RCV003849304] | Chr22:20063449..20063450 [GRCh38] Chr22:20050972..20050973 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.192C>T (p.Ile64=) | single nucleotide variant | not provided [RCV003576810] | Chr22:20052511 [GRCh38] Chr22:20040034 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.266-2A>G | single nucleotide variant | not provided [RCV003687471] | Chr22:20053435 [GRCh38] Chr22:20040958 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_152906.7(TANGO2):c.436dup (p.Ile146fs) | duplication | not provided [RCV003578386] | Chr22:20055997..20055998 [GRCh38] Chr22:20043520..20043521 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.145+12T>C | single nucleotide variant | not provided [RCV003689990] | Chr22:20043455 [GRCh38] Chr22:20030978 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.381-14C>T | single nucleotide variant | not provided [RCV003714859] | Chr22:20055929 [GRCh38] Chr22:20043452 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.307T>G (p.Leu103Val) | single nucleotide variant | not provided [RCV003882430] | Chr22:20053478 [GRCh38] Chr22:20041001 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.447G>C (p.Thr149=) | single nucleotide variant | not provided [RCV003688169] | Chr22:20056009 [GRCh38] Chr22:20043532 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.265+7C>G | single nucleotide variant | not provided [RCV003574386] | Chr22:20052591 [GRCh38] Chr22:20040114 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.57-4G>A | single nucleotide variant | not provided [RCV003716393] | Chr22:20043351 [GRCh38] Chr22:20030874 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.478C>T (p.Leu160=) | single nucleotide variant | not provided [RCV003691858] | Chr22:20061556 [GRCh38] Chr22:20049079 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.605+18G>T | single nucleotide variant | not provided [RCV003691856] | Chr22:20061701 [GRCh38] Chr22:20049224 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.528G>A (p.Glu176=) | single nucleotide variant | not provided [RCV003660564] | Chr22:20061606 [GRCh38] Chr22:20049129 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.491G>A (p.Trp164Ter) | single nucleotide variant | not provided [RCV003686410] | Chr22:20061569 [GRCh38] Chr22:20049092 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_152906.7(TANGO2):c.174A>C (p.Gly58=) | single nucleotide variant | not provided [RCV003688672] | Chr22:20052493 [GRCh38] Chr22:20040016 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.198A>G (p.Thr66=) | single nucleotide variant | not provided [RCV003689481] | Chr22:20052517 [GRCh38] Chr22:20040040 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.380+19G>A | single nucleotide variant | not provided [RCV003690551] | Chr22:20053570 [GRCh38] Chr22:20041093 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.298G>C (p.Val100Leu) | single nucleotide variant | not provided [RCV003665330] | Chr22:20053469 [GRCh38] Chr22:20040992 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_152906.7(TANGO2):c.765T>C (p.Arg255=) | single nucleotide variant | not provided [RCV003850084] | Chr22:20064596 [GRCh38] Chr22:20052119 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.265+14G>C | single nucleotide variant | not provided [RCV003580717] | Chr22:20052598 [GRCh38] Chr22:20040121 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.605+8G>A | single nucleotide variant | not provided [RCV003834161] | Chr22:20061691 [GRCh38] Chr22:20049214 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.610C>T (p.Leu204=) | single nucleotide variant | not provided [RCV003851551] | Chr22:20063342 [GRCh38] Chr22:20050865 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_152906.7(TANGO2):c.282C>T (p.His94=) | single nucleotide variant | not provided [RCV003852626] | Chr22:20053453 [GRCh38] Chr22:20040976 [GRCh37] Chr22:22q11.21 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH93311 |
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D22S933 |
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D22S1602 |
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STS-T76997 |
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A009D48 |
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RH36905 |
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D8S2279 |
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G32462 |
|
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1145 | 2747 | 1221 | 100 | 1391 | 71 | 2156 | 1155 | 1476 | 216 | 461 | 1380 | 42 | 669 | 1525 | 2 | ||
Low | 1294 | 244 | 505 | 524 | 560 | 394 | 2200 | 1042 | 2258 | 203 | 999 | 233 | 133 | 1 | 535 | 1263 | 4 | 2 |
Below cutoff |
RefSeq Transcripts | NG_046857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001283106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283154 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001283248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322142 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322145 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322149 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_152906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_104274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_104275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_136206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_136211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_136212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011529863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011529865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011529867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028579 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028580 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028582 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028583 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024452157 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001755161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001755162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001755163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001755164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002958662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA319727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AA969089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC005663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC006547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK092484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK301054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK301366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK316020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK316056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL713640 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC041339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF726547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG685068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI544307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI911898 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM013784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM048105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP193987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP303570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU173566 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX345246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD675132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CF552364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR456355 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR627452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA176876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB021425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC301369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC303300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC315148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC318353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC332363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC349456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY135099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000327374 ⟹ ENSP00000332721 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000398042 ⟹ ENSP00000381122 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000399807 ⟹ ENSP00000382706 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000401833 ⟹ ENSP00000384827 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000401886 ⟹ ENSP00000385662 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000411907 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000420290 ⟹ ENSP00000396182 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000430807 ⟹ ENSP00000403432 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000432198 ⟹ ENSP00000413850 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000432883 ⟹ ENSP00000402926 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000434168 ⟹ ENSP00000411602 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000434570 ⟹ ENSP00000391262 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000444651 ⟹ ENSP00000395816 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000447208 ⟹ ENSP00000389797 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000450019 ⟹ ENSP00000402966 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000450664 ⟹ ENSP00000415450 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000456048 ⟹ ENSP00000403645 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000462579 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000471707 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000475446 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000476940 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000479679 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000484373 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000485715 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000490121 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000490583 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001283106 ⟹ NP_001270035 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283116 ⟹ NP_001270045 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283129 ⟹ NP_001270058 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283148 ⟹ NP_001270077 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283154 ⟹ NP_001270083 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283179 ⟹ NP_001270108 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283186 ⟹ NP_001270115 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283199 ⟹ NP_001270128 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283215 ⟹ NP_001270144 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283235 ⟹ NP_001270164 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001283248 ⟹ NP_001270177 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322141 ⟹ NP_001309070 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322142 ⟹ NP_001309071 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322143 ⟹ NP_001309072 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322144 ⟹ NP_001309073 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322145 ⟹ NP_001309074 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322146 ⟹ NP_001309075 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322147 ⟹ NP_001309076 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322148 ⟹ NP_001309077 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322149 ⟹ NP_001309078 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322150 ⟹ NP_001309079 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322153 ⟹ NP_001309082 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322155 ⟹ NP_001309084 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322160 ⟹ NP_001309089 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322163 ⟹ NP_001309092 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322166 ⟹ NP_001309095 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322167 ⟹ NP_001309096 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322169 ⟹ NP_001309098 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322171 ⟹ NP_001309100 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322172 ⟹ NP_001309101 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322173 ⟹ NP_001309102 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322174 ⟹ NP_001309103 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322175 ⟹ NP_001309104 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_152906 ⟹ NP_690870 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_104274 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_104275 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_136206 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_136211 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_136212 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017028577 ⟹ XP_016884066 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017028579 ⟹ XP_016884068 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017028580 ⟹ XP_016884069 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017028585 ⟹ XP_016884074 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017028586 ⟹ XP_016884075 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047441118 ⟹ XP_047297074 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441119 ⟹ XP_047297075 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441120 ⟹ XP_047297076 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441121 ⟹ XP_047297077 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441122 ⟹ XP_047297078 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441123 ⟹ XP_047297079 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441124 ⟹ XP_047297080 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441125 ⟹ XP_047297081 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441126 ⟹ XP_047297082 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441127 ⟹ XP_047297083 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441128 ⟹ XP_047297084 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441129 ⟹ XP_047297085 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441130 ⟹ XP_047297086 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441131 ⟹ XP_047297087 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047441132 ⟹ XP_047297088 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325063 ⟹ XP_054181038 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325064 ⟹ XP_054181039 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325065 ⟹ XP_054181040 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325066 ⟹ XP_054181041 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325067 ⟹ XP_054181042 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325068 ⟹ XP_054181043 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325069 ⟹ XP_054181044 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325070 ⟹ XP_054181045 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325071 ⟹ XP_054181046 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325072 ⟹ XP_054181047 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325073 ⟹ XP_054181048 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325074 ⟹ XP_054181049 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325075 ⟹ XP_054181050 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325076 ⟹ XP_054181051 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325077 ⟹ XP_054181052 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325078 ⟹ XP_054181053 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325079 ⟹ XP_054181054 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325080 ⟹ XP_054181055 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325081 ⟹ XP_054181056 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325082 ⟹ XP_054181057 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325083 ⟹ XP_054181058 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054325084 ⟹ XP_054181059 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001270035 | (Get FASTA) | NCBI Sequence Viewer |
NP_001270045 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270058 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270077 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270083 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270108 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270115 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270128 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270144 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270164 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001270177 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309070 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309071 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309072 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309073 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309074 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309075 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309076 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309077 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309078 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309079 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309082 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309084 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309089 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309092 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309095 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309096 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309098 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309100 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309101 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309102 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309103 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309104 | (Get FASTA) | NCBI Sequence Viewer | |
NP_690870 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884066 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884068 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884069 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884074 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884075 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297074 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297075 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297076 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297077 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297078 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297079 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297080 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297081 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297082 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297083 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297084 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297085 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297086 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297087 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297088 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181038 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181039 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181040 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181041 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181042 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181043 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181044 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181045 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181046 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181047 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181048 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181049 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181050 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181051 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181052 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181053 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181054 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181055 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181056 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181057 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181058 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181059 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH41339 | (Get FASTA) | NCBI Sequence Viewer |
BAC03902 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82551 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12013 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12491 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12691 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12819 | (Get FASTA) | NCBI Sequence Viewer | |
BAH13398 | (Get FASTA) | NCBI Sequence Viewer | |
BAH13466 | (Get FASTA) | NCBI Sequence Viewer | |
BAH14391 | (Get FASTA) | NCBI Sequence Viewer | |
BAH14427 | (Get FASTA) | NCBI Sequence Viewer | |
CAD28454 | (Get FASTA) | NCBI Sequence Viewer | |
CAG30241 | (Get FASTA) | NCBI Sequence Viewer | |
CAH10533 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03001 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03002 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03003 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03004 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03005 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03006 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000332721 | ||
ENSP00000332721.4 | |||
ENSP00000381122 | |||
ENSP00000381122.2 | |||
ENSP00000382706.3 | |||
ENSP00000384827 | |||
ENSP00000384827.1 | |||
ENSP00000385662 | |||
ENSP00000385662.1 | |||
ENSP00000389797 | |||
ENSP00000389797.3 | |||
ENSP00000391262 | |||
ENSP00000391262.2 | |||
ENSP00000395816.1 | |||
ENSP00000396182 | |||
ENSP00000396182.3 | |||
ENSP00000402926 | |||
ENSP00000402926.2 | |||
ENSP00000402966.1 | |||
ENSP00000403432.1 | |||
ENSP00000403645 | |||
ENSP00000403645.2 | |||
ENSP00000411602.1 | |||
ENSP00000413850.1 | |||
ENSP00000415450.1 | |||
GenBank Protein | Q6ICL3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_690870 ⟸ NM_152906 |
- Peptide Label: | isoform a |
- UniProtKB: | Q8TCS0 (UniProtKB/Swiss-Prot), Q8NAL0 (UniProtKB/Swiss-Prot), Q8IW05 (UniProtKB/Swiss-Prot), D3DX23 (UniProtKB/Swiss-Prot), B7Z730 (UniProtKB/Swiss-Prot), B7Z583 (UniProtKB/Swiss-Prot), B7WNV6 (UniProtKB/Swiss-Prot), A8MUE9 (UniProtKB/Swiss-Prot), Q96M16 (UniProtKB/Swiss-Prot), Q6ICL3 (UniProtKB/Swiss-Prot), A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001270035 ⟸ NM_001283106 |
- Peptide Label: | isoform a |
- UniProtKB: | Q8TCS0 (UniProtKB/Swiss-Prot), Q8NAL0 (UniProtKB/Swiss-Prot), Q8IW05 (UniProtKB/Swiss-Prot), D3DX23 (UniProtKB/Swiss-Prot), B7Z730 (UniProtKB/Swiss-Prot), B7Z583 (UniProtKB/Swiss-Prot), B7WNV6 (UniProtKB/Swiss-Prot), A8MUE9 (UniProtKB/Swiss-Prot), Q96M16 (UniProtKB/Swiss-Prot), Q6ICL3 (UniProtKB/Swiss-Prot), A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001270108 ⟸ NM_001283179 |
- Peptide Label: | isoform d |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001270083 ⟸ NM_001283154 |
- Peptide Label: | isoform c |
- UniProtKB: | B7Z9Q5 (UniProtKB/TrEMBL), B7Z4V5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001270128 ⟸ NM_001283199 |
- Peptide Label: | isoform e |
- UniProtKB: | A0A0A0MSI5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001270058 ⟸ NM_001283129 |
- Peptide Label: | isoform b |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001270144 ⟸ NM_001283215 |
- Peptide Label: | isoform f |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001270045 ⟸ NM_001283116 |
- Peptide Label: | isoform a |
- UniProtKB: | Q8TCS0 (UniProtKB/Swiss-Prot), Q8NAL0 (UniProtKB/Swiss-Prot), Q8IW05 (UniProtKB/Swiss-Prot), D3DX23 (UniProtKB/Swiss-Prot), B7Z730 (UniProtKB/Swiss-Prot), B7Z583 (UniProtKB/Swiss-Prot), B7WNV6 (UniProtKB/Swiss-Prot), A8MUE9 (UniProtKB/Swiss-Prot), Q96M16 (UniProtKB/Swiss-Prot), Q6ICL3 (UniProtKB/Swiss-Prot), A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001270077 ⟸ NM_001283148 |
- Peptide Label: | isoform c |
- UniProtKB: | B7Z9Q5 (UniProtKB/TrEMBL), B7Z4V5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001270164 ⟸ NM_001283235 |
- Peptide Label: | isoform g |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001270115 ⟸ NM_001283186 |
- Peptide Label: | isoform d |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001270177 ⟸ NM_001283248 |
- Peptide Label: | isoform h |
- UniProtKB: | B7Z4A5 (UniProtKB/TrEMBL), C9JKN2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309092 ⟸ NM_001322163 |
- Peptide Label: | isoform d |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001309103 ⟸ NM_001322174 |
- Peptide Label: | isoform g |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001309077 ⟸ NM_001322148 |
- Peptide Label: | isoform n |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001309070 ⟸ NM_001322141 |
- Peptide Label: | isoform i |
- Sequence: |
RefSeq Acc Id: | NP_001309073 ⟸ NM_001322144 |
- Peptide Label: | isoform l |
- UniProtKB: | B7Z4V5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309078 ⟸ NM_001322149 |
- Peptide Label: | isoform r |
- Sequence: |
RefSeq Acc Id: | NP_001309079 ⟸ NM_001322150 |
- Peptide Label: | isoform o |
- Sequence: |
RefSeq Acc Id: | NP_001309102 ⟸ NM_001322173 |
- Peptide Label: | isoform g |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001309076 ⟸ NM_001322147 |
- Peptide Label: | isoform m |
- Sequence: |
RefSeq Acc Id: | NP_001309071 ⟸ NM_001322142 |
- Peptide Label: | isoform j |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309082 ⟸ NM_001322153 |
- Peptide Label: | isoform o |
- Sequence: |
RefSeq Acc Id: | NP_001309098 ⟸ NM_001322169 |
- Peptide Label: | isoform q |
- Sequence: |
RefSeq Acc Id: | NP_001309101 ⟸ NM_001322172 |
- Peptide Label: | isoform g |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001309089 ⟸ NM_001322160 |
- Peptide Label: | isoform p |
- Sequence: |
RefSeq Acc Id: | NP_001309104 ⟸ NM_001322175 |
- Peptide Label: | isoform g |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001309096 ⟸ NM_001322167 |
- Peptide Label: | isoform d |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001309072 ⟸ NM_001322143 |
- Peptide Label: | isoform b |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309074 ⟸ NM_001322145 |
- Peptide Label: | isoform m |
- Sequence: |
RefSeq Acc Id: | NP_001309075 ⟸ NM_001322146 |
- Peptide Label: | isoform k |
- Sequence: |
RefSeq Acc Id: | NP_001309084 ⟸ NM_001322155 |
- Peptide Label: | isoform o |
- Sequence: |
RefSeq Acc Id: | NP_001309100 ⟸ NM_001322171 |
- Peptide Label: | isoform g |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001309095 ⟸ NM_001322166 |
- Peptide Label: | isoform d |
- UniProtKB: | Q6ICL3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016884068 ⟸ XM_017028579 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016884069 ⟸ XM_017028580 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016884075 ⟸ XM_017028586 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | XP_016884066 ⟸ XM_017028577 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016884074 ⟸ XM_017028585 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | ENSP00000381122 ⟸ ENST00000398042 |
RefSeq Acc Id: | ENSP00000382706 ⟸ ENST00000399807 |
RefSeq Acc Id: | ENSP00000402966 ⟸ ENST00000450019 |
RefSeq Acc Id: | ENSP00000415450 ⟸ ENST00000450664 |
RefSeq Acc Id: | ENSP00000384827 ⟸ ENST00000401833 |
RefSeq Acc Id: | ENSP00000385662 ⟸ ENST00000401886 |
RefSeq Acc Id: | ENSP00000403645 ⟸ ENST00000456048 |
RefSeq Acc Id: | ENSP00000395816 ⟸ ENST00000444651 |
RefSeq Acc Id: | ENSP00000403432 ⟸ ENST00000430807 |
RefSeq Acc Id: | ENSP00000332721 ⟸ ENST00000327374 |
RefSeq Acc Id: | ENSP00000413850 ⟸ ENST00000432198 |
RefSeq Acc Id: | ENSP00000402926 ⟸ ENST00000432883 |
RefSeq Acc Id: | ENSP00000389797 ⟸ ENST00000447208 |
RefSeq Acc Id: | ENSP00000396182 ⟸ ENST00000420290 |
RefSeq Acc Id: | ENSP00000391262 ⟸ ENST00000434570 |
RefSeq Acc Id: | ENSP00000411602 ⟸ ENST00000434168 |
RefSeq Acc Id: | XP_047297077 ⟸ XM_047441121 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047297080 ⟸ XM_047441124 |
- Peptide Label: | isoform X6 |
- UniProtKB: | Q8TCS0 (UniProtKB/Swiss-Prot), Q8NAL0 (UniProtKB/Swiss-Prot), Q8IW05 (UniProtKB/Swiss-Prot), Q6ICL3 (UniProtKB/Swiss-Prot), D3DX23 (UniProtKB/Swiss-Prot), B7Z730 (UniProtKB/Swiss-Prot), B7Z583 (UniProtKB/Swiss-Prot), B7WNV6 (UniProtKB/Swiss-Prot), A8MUE9 (UniProtKB/Swiss-Prot), Q96M16 (UniProtKB/Swiss-Prot), A8K1E7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047297074 ⟸ XM_047441118 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047297087 ⟸ XM_047441131 |
- Peptide Label: | isoform X12 |
RefSeq Acc Id: | XP_047297075 ⟸ XM_047441119 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047297079 ⟸ XM_047441123 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047297086 ⟸ XM_047441130 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_047297081 ⟸ XM_047441125 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_047297082 ⟸ XM_047441126 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_047297084 ⟸ XM_047441128 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_047297083 ⟸ XM_047441127 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_047297085 ⟸ XM_047441129 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_047297078 ⟸ XM_047441122 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047297076 ⟸ XM_047441120 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047297088 ⟸ XM_047441132 |
- Peptide Label: | isoform X13 |
- UniProtKB: | A0A0A0MSI5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054181040 ⟸ XM_054325065 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054181044 ⟸ XM_054325069 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054181041 ⟸ XM_054325066 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054181047 ⟸ XM_054325072 |
- Peptide Label: | isoform X6 |
- UniProtKB: | Q8TCS0 (UniProtKB/Swiss-Prot), Q8NAL0 (UniProtKB/Swiss-Prot), Q8IW05 (UniProtKB/Swiss-Prot), Q6ICL3 (UniProtKB/Swiss-Prot), D3DX23 (UniProtKB/Swiss-Prot), B7Z730 (UniProtKB/Swiss-Prot), B7Z583 (UniProtKB/Swiss-Prot), B7WNV6 (UniProtKB/Swiss-Prot), A8MUE9 (UniProtKB/Swiss-Prot), Q96M16 (UniProtKB/Swiss-Prot), A8K1E7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054181038 ⟸ XM_054325063 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054181056 ⟸ XM_054325081 |
- Peptide Label: | isoform X12 |
RefSeq Acc Id: | XP_054181043 ⟸ XM_054325068 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054181039 ⟸ XM_054325064 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A8K1E7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054181049 ⟸ XM_054325074 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054181042 ⟸ XM_054325067 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054181057 ⟸ XM_054325082 |
- Peptide Label: | isoform X13 |
- UniProtKB: | A0A0A0MSI5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054181048 ⟸ XM_054325073 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054181045 ⟸ XM_054325070 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054181046 ⟸ XM_054325071 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054181055 ⟸ XM_054325080 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_054181050 ⟸ XM_054325075 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054181051 ⟸ XM_054325076 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054181053 ⟸ XM_054325078 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_054181052 ⟸ XM_054325077 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054181059 ⟸ XM_054325084 |
- Peptide Label: | isoform X14 |
- UniProtKB: | A8MWT1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054181054 ⟸ XM_054325079 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_054181058 ⟸ XM_054325083 |
- Peptide Label: | isoform X14 |
- UniProtKB: | A8MWT1 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6ICL3-F1-model_v2 | AlphaFold | Q6ICL3 | 1-276 | view protein structure |
RGD ID: | 6799716 | ||||||||
Promoter ID: | HG_KWN:41568 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000075314, OTTHUMT00000318692, OTTHUMT00000318727, OTTHUMT00000318761, OTTHUMT00000318880, UC002ZRB.1, UC010GRW.1 | ||||||||
Position: |
|
RGD ID: | 6799722 | ||||||||
Promoter ID: | HG_KWN:41569 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000398042, ENST00000399807, ENST00000401833, OTTHUMT00000318689, OTTHUMT00000318726, OTTHUMT00000318728, OTTHUMT00000318729, OTTHUMT00000318730, OTTHUMT00000318732, UC002ZRD.1, UC002ZRE.1, UC010GRX.1 | ||||||||
Position: |
|
RGD ID: | 6799725 | ||||||||
Promoter ID: | HG_KWN:41571 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000318735, OTTHUMT00000318762, OTTHUMT00000319786, OTTHUMT00000319787, UC002ZRG.1, UC002ZRH.1, UC010GRY.1 | ||||||||
Position: |
|
RGD ID: | 6799713 | ||||||||
Promoter ID: | HG_KWN:41572 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | OTTHUMT00000318736 | ||||||||
Position: |
|
RGD ID: | 6799714 | ||||||||
Promoter ID: | HG_KWN:41573 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | OTTHUMT00000318737 | ||||||||
Position: |
|
RGD ID: | 6799715 | ||||||||
Promoter ID: | HG_KWN:41574 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | OTTHUMT00000318763 | ||||||||
Position: |
|
RGD ID: | 13603260 | ||||||||
Promoter ID: | EPDNEW_H27811 | ||||||||
Type: | initiation region | ||||||||
Name: | TANGO2_2 | ||||||||
Description: | transport and golgi organization 2 homolog | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27812 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13603256 | ||||||||
Promoter ID: | EPDNEW_H27812 | ||||||||
Type: | initiation region | ||||||||
Name: | TANGO2_1 | ||||||||
Description: | transport and golgi organization 2 homolog | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27811 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:25439 | AgrOrtholog |
COSMIC | TANGO2 | COSMIC |
Ensembl Genes | ENSG00000183597 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000327374 | ENTREZGENE |
ENST00000327374.9 | UniProtKB/Swiss-Prot | |
ENST00000398042 | ENTREZGENE | |
ENST00000398042.6 | UniProtKB/Swiss-Prot | |
ENST00000399807.7 | UniProtKB/TrEMBL | |
ENST00000401833 | ENTREZGENE | |
ENST00000401833.5 | UniProtKB/Swiss-Prot | |
ENST00000401886 | ENTREZGENE | |
ENST00000401886.5 | UniProtKB/Swiss-Prot | |
ENST00000420290 | ENTREZGENE | |
ENST00000420290.6 | UniProtKB/TrEMBL | |
ENST00000430807.5 | UniProtKB/TrEMBL | |
ENST00000432198.5 | UniProtKB/TrEMBL | |
ENST00000432883 | ENTREZGENE | |
ENST00000432883.5 | UniProtKB/Swiss-Prot | |
ENST00000434168.5 | UniProtKB/TrEMBL | |
ENST00000434570 | ENTREZGENE | |
ENST00000434570.6 | UniProtKB/Swiss-Prot | |
ENST00000444651.5 | UniProtKB/TrEMBL | |
ENST00000447208 | ENTREZGENE | |
ENST00000447208.6 | UniProtKB/TrEMBL | |
ENST00000450019.5 | UniProtKB/TrEMBL | |
ENST00000450664.5 | UniProtKB/TrEMBL | |
ENST00000456048 | ENTREZGENE | |
ENST00000456048.5 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000183597 | GTEx |
HGNC ID | HGNC:25439 | ENTREZGENE |
Human Proteome Map | TANGO2 | Human Proteome Map |
InterPro | TANGO2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:128989 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 128989 | ENTREZGENE |
OMIM | 616830 | OMIM |
PANTHER | PTHR17985 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TRANSPORT AND GOLGI ORGANIZATION PROTEIN 2 HOMOLOG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | TANGO2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA143485406 | PharmGKB |
UniProt | A0A0A0MSI5 | ENTREZGENE, UniProtKB/TrEMBL |
A8K1E7 | ENTREZGENE, UniProtKB/TrEMBL | |
A8MUE9 | ENTREZGENE | |
A8MWT1 | ENTREZGENE, UniProtKB/TrEMBL | |
B7WNV6 | ENTREZGENE | |
B7Z4A5 | ENTREZGENE, UniProtKB/TrEMBL | |
B7Z4V5 | ENTREZGENE, UniProtKB/TrEMBL | |
B7Z583 | ENTREZGENE | |
B7Z730 | ENTREZGENE | |
B7Z9Q5 | ENTREZGENE, UniProtKB/TrEMBL | |
C9J695_HUMAN | UniProtKB/TrEMBL | |
C9JDT9_HUMAN | UniProtKB/TrEMBL | |
C9JKN2 | ENTREZGENE, UniProtKB/TrEMBL | |
D3DX23 | ENTREZGENE | |
F6S117_HUMAN | UniProtKB/TrEMBL | |
F8WDT9_HUMAN | UniProtKB/TrEMBL | |
Q6ICL3 | ENTREZGENE | |
Q8IW05 | ENTREZGENE | |
Q8NAL0 | ENTREZGENE | |
Q8TCS0 | ENTREZGENE | |
Q96M16 | ENTREZGENE | |
TNG2_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A1QAV0 | UniProtKB/TrEMBL |
A8MUE9 | UniProtKB/Swiss-Prot | |
B7WNV6 | UniProtKB/Swiss-Prot | |
B7Z583 | UniProtKB/Swiss-Prot | |
B7Z730 | UniProtKB/Swiss-Prot | |
D3DX23 | UniProtKB/Swiss-Prot | |
Q8IW05 | UniProtKB/Swiss-Prot | |
Q8NAL0 | UniProtKB/Swiss-Prot | |
Q8TCS0 | UniProtKB/Swiss-Prot | |
Q96M16 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-07-07 | TANGO2 | transport and golgi organization 2 homolog | transport and golgi organization 2 homolog (Drosophila) | Symbol and/or name change | 5135510 | APPROVED | |
2013-01-02 | TANGO2 | transport and golgi organization 2 homolog (Drosophila) | C22orf25 | chromosome 22 open reading frame 25 | Symbol and/or name change | 5135510 | APPROVED |