| NM_000026.4(ADSL):c.56C>G (p.Ser19Cys) |
single nucleotide variant |
not provided [RCV000521253] |
Chr22:40346614 [GRCh38]
Chr22:40742618 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000002565] |
Chr22:40365000 [GRCh38]
Chr22:40761004 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1277G>A (p.Arg426His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000002566]|Inborn genetic diseases [RCV002512680]|not provided [RCV000186693] |
Chr22:40364965 [GRCh38]
Chr22:40760969 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.298C>G (p.Pro100Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000002567] |
Chr22:40349976 [GRCh38]
Chr22:40745980 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000002568] |
Chr22:40364952 [GRCh38]
Chr22:40760956 [GRCh37]
Chr22:22q13.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000002569]|not provided [RCV000186674] |
Chr22:40358950 [GRCh38]
Chr22:40754954 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) |
single nucleotide variant |
ADSL-related disorder [RCV003398421]|Adenylosuccinate lyase deficiency [RCV000002570]|not provided [RCV002280090] |
Chr22:40360436 [GRCh38]
Chr22:40756440 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| ADSL, -49T-C, PROMOTER |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000002571] |
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.674T>C (p.Met225Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000002572] |
Chr22:40359279 [GRCh38]
Chr22:40755283 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.262G>T (p.Val88Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001367571] |
Chr22:40349940 [GRCh38]
Chr22:40745944 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.655G>A (p.Val219Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000552936] |
Chr22:40359260 [GRCh38]
Chr22:40755264 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000553354]|not provided [RCV000728589] |
Chr22:40361512 [GRCh38]
Chr22:40757516 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.11G>T (p.Gly4Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001363640]|not provided [RCV000728371] |
Chr22:40346569 [GRCh38]
Chr22:40742573 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.769A>G (p.Ser257Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000552133] |
Chr22:40360469 [GRCh38]
Chr22:40756473 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 |
copy number gain |
See cases [RCV000051684] |
Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33 |
pathogenic |
| GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 |
copy number gain |
See cases [RCV000051685] |
Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2 |
pathogenic |
| GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 |
copy number gain |
See cases [RCV000051682] |
Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33 |
pathogenic |
| NM_000026.2(ADSL):c.1108G>A (p.Glu370Lys) |
single nucleotide variant |
Malignant melanoma [RCV000072978] |
Chr22:40364282 [GRCh38]
Chr22:40760286 [GRCh37]
Chr22:39090232 [NCBI36]
Chr22:22q13.1 |
not provided |
| NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000697137]|not provided [RCV000723724] |
Chr22:40364286 [GRCh38]
Chr22:40760290 [GRCh37]
Chr22:22q13.1 |
benign|uncertain significance |
| NM_000026.4(ADSL):c.735A>T (p.Arg245=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001079876]|not provided [RCV000723714]|not specified [RCV000186609] |
Chr22:40360435 [GRCh38]
Chr22:40756439 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000026.4(ADSL):c.124C>T (p.Leu42=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000226786]|not provided [RCV003430666]|not specified [RCV000116237] |
Chr22:40346682 [GRCh38]
Chr22:40742686 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.358-4G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000233479]|not provided [RCV000710483]|not specified [RCV000116238] |
Chr22:40353069 [GRCh38]
Chr22:40749073 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000026.4(ADSL):c.440A>T (p.Lys147Met) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000284062]|not provided [RCV000441107]|not specified [RCV000116239] |
Chr22:40354285 [GRCh38]
Chr22:40750289 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000026.4(ADSL):c.1010+18A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002055395]|not provided [RCV001699040]|not specified [RCV000123545] |
Chr22:40361653 [GRCh38]
Chr22:40757657 [GRCh37]
Chr22:22q13.1 |
benign|likely benign |
| NM_000026.4(ADSL):c.216C>T (p.Ile72=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000229565]|not provided [RCV004713315]|not specified [RCV000175509] |
Chr22:40349894 [GRCh38]
Chr22:40745898 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000026.4(ADSL):c.357+6C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000289803]|not provided [RCV000710482]|not specified [RCV000123547] |
Chr22:40350041 [GRCh38]
Chr22:40746045 [GRCh37]
Chr22:22q13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.357+7G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000347351]|not provided [RCV000726640]|not specified [RCV000123548] |
Chr22:40350042 [GRCh38]
Chr22:40746046 [GRCh37]
Chr22:22q13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.27G>T (p.Ser9=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000868944]|not specified [RCV000123549] |
Chr22:40346585 [GRCh38]
Chr22:40742589 [GRCh37]
Chr22:22q13.1 |
benign|likely benign |
| NM_000026.4(ADSL):c.363G>A (p.Leu121=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000864071]|not specified [RCV000123552] |
Chr22:40353078 [GRCh38]
Chr22:40749082 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000026.4(ADSL):c.701+1G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001202658] |
Chr22:40359307 [GRCh38]
Chr22:40755311 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 |
copy number gain |
See cases [RCV000133646] |
Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634536]|not provided [RCV000432959] |
Chr22:40363030 [GRCh38]
Chr22:40759034 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.985C>T (p.Arg329Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001312484] |
Chr22:40361610 [GRCh38]
Chr22:40757614 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.655G>T (p.Val219Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001303310] |
Chr22:40359260 [GRCh38]
Chr22:40755264 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1368+3A>G |
single nucleotide variant |
not provided [RCV000174208] |
Chr22:40365059 [GRCh38]
Chr22:40761063 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001363767]|not provided [RCV000174209] |
Chr22:40364895 [GRCh38]
Chr22:40760899 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| 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 |
| NM_000026.4(ADSL):c.899G>A (p.Arg300His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001220450]|not specified [RCV000202823] |
Chr22:40361524 [GRCh38]
Chr22:40757528 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 |
copy number gain |
See cases [RCV000134513] |
Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33 |
pathogenic |
| NM_000026.4(ADSL):c.702-7T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001081511]|not provided [RCV000723924]|not specified [RCV000186673] |
Chr22:40360395 [GRCh38]
Chr22:40756399 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000527728]|not provided [RCV000723817] |
Chr22:40349925 [GRCh38]
Chr22:40745929 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.307G>T (p.Ala103Ser) |
single nucleotide variant |
not provided [RCV000175510] |
Chr22:40349985 [GRCh38]
Chr22:40745989 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.649C>G (p.His217Asp) |
single nucleotide variant |
ADSL-related disorder [RCV003907621]|Adenylosuccinate lyase deficiency [RCV001080646]|not provided [RCV000230022]|not specified [RCV000186672] |
Chr22:40359030 [GRCh38]
Chr22:40755034 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|uncertain significance |
| NM_000026.4(ADSL):c.895A>G (p.Met299Val) |
single nucleotide variant |
ADSL-related disorder [RCV003907634]|Adenylosuccinate lyase deficiency [RCV001087090]|not provided [RCV000710485] |
Chr22:40361520 [GRCh38]
Chr22:40757524 [GRCh37]
Chr22:22q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) |
single nucleotide variant |
ADSL-related disorder [RCV003927731]|Adenylosuccinate lyase deficiency [RCV001082607]|not provided [RCV000766357]|not specified [RCV000186675] |
Chr22:40358997 [GRCh38]
Chr22:40755001 [GRCh37]
Chr22:22q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.702-5C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002603257] |
Chr22:40360397 [GRCh38]
Chr22:40756401 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001209833]|not provided [RCV000186680] |
Chr22:40361634 [GRCh38]
Chr22:40757638 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.880T>C (p.Tyr294His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000540883]|not provided [RCV001721189] |
Chr22:40361505 [GRCh38]
Chr22:40757509 [GRCh37]
Chr22:22q13.1 |
benign|uncertain significance |
| NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000764387]|Inborn genetic diseases [RCV004020258]|not provided [RCV000186683] |
Chr22:40361550 [GRCh38]
Chr22:40757554 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000278336]|not provided [RCV000186684] |
Chr22:40361578 [GRCh38]
Chr22:40757582 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.1061C>T (p.Thr354Met) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001857600]|not provided [RCV000186686] |
Chr22:40363031 [GRCh38]
Chr22:40759035 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1115G>A (p.Arg372His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000467182]|Inborn genetic diseases [RCV004020259]|not provided [RCV000186688] |
Chr22:40364289 [GRCh38]
Chr22:40760293 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1187G>A (p.Arg396His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000779373]|not provided [RCV000186690] |
Chr22:40364361 [GRCh38]
Chr22:40760365 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000537481]|Inborn genetic diseases [RCV003343677]|not provided [RCV000186691] |
Chr22:40364950 [GRCh38]
Chr22:40760954 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001971049] |
Chr22:40364976 [GRCh38]
Chr22:40760980 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001489163]|not provided [RCV000725224]|not specified [RCV000186695] |
Chr22:40364979 [GRCh38]
Chr22:40760983 [GRCh37]
Chr22:22q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000763485]|not provided [RCV000186696] |
Chr22:40365027 [GRCh38]
Chr22:40761031 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg) |
single nucleotide variant |
not provided [RCV000186699] |
Chr22:40366514 [GRCh38]
Chr22:40762518 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.263T>C (p.Val88Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001207291]|not provided [RCV000186702] |
Chr22:40349941 [GRCh38]
Chr22:40745945 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.340T>C (p.Tyr114His) |
single nucleotide variant |
ADSL-related disorder [RCV004755797]|Adenylosuccinate lyase deficiency [RCV000193076]|Generalized myoclonic seizure [RCV000415212]|Inborn genetic diseases [RCV002513975]|not provided [RCV000186703] |
Chr22:40350018 [GRCh38]
Chr22:40746022 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001363283]|not provided [RCV000186704] |
Chr22:40346563 [GRCh38]
Chr22:40742567 [GRCh37]
Chr22:22q13.1 |
pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001228393]|not provided [RCV000727459] |
Chr22:40346598 [GRCh38]
Chr22:40742602 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.113C>G (p.Thr38Arg) |
single nucleotide variant |
not provided [RCV000186706] |
Chr22:40346671 [GRCh38]
Chr22:40742675 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001035904]|not provided [RCV000186707] |
Chr22:40353092 [GRCh38]
Chr22:40749096 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001308467]|not provided [RCV000186708] |
Chr22:40354327 [GRCh38]
Chr22:40750331 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) |
single nucleotide variant |
ADSL-related disorder [RCV003390914]|Adenylosuccinate lyase deficiency [RCV000763484]|not provided [RCV000186710] |
Chr22:40358949 [GRCh38]
Chr22:40754953 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001049471]|Generalized myoclonic seizure [RCV000415081]|not provided [RCV000186711] |
Chr22:40354266 [GRCh38]
Chr22:40750270 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001781543]|not provided [RCV000186712] |
Chr22:40365037 [GRCh38]
Chr22:40761041 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NM_000026.4(ADSL):c.-35G>A |
single nucleotide variant |
not provided [RCV000186713] |
Chr22:40346524 [GRCh38]
Chr22:40742528 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-22C>T |
single nucleotide variant |
not provided [RCV000186714] |
Chr22:40346537 [GRCh38]
Chr22:40742541 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.775G>T (p.Gly259Trp) |
single nucleotide variant |
not provided [RCV000186677] |
Chr22:40360475 [GRCh38]
Chr22:40756479 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.828G>C (p.Lys276Asn) |
single nucleotide variant |
not provided [RCV000186678] |
Chr22:40361308 [GRCh38]
Chr22:40757312 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.853C>T (p.Gln285Ter) |
single nucleotide variant |
not provided [RCV000186679] |
Chr22:40361333 [GRCh38]
Chr22:40757337 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001852436]|not provided [RCV000186689] |
Chr22:40364302 [GRCh38]
Chr22:40760306 [GRCh37]
Chr22:22q13.1 |
pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001253786]|not provided [RCV000186692] |
Chr22:40364964 [GRCh38]
Chr22:40760968 [GRCh37]
Chr22:22q13.1 |
pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1391A>T (p.Glu464Val) |
single nucleotide variant |
not provided [RCV000186697] |
Chr22:40366458 [GRCh38]
Chr22:40762462 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001313688]|not provided [RCV000727388] |
Chr22:40366506 [GRCh38]
Chr22:40762510 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.197A>T (p.Lys66Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002513974]|not provided [RCV000186700] |
Chr22:40349875 [GRCh38]
Chr22:40745879 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del) |
microsatellite |
Adenylosuccinate lyase deficiency [RCV001036968]|not provided [RCV000186709] |
Chr22:40365025..40365027 [GRCh38]
Chr22:40761029..40761031 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000026.3(ADSL):c.403-10T>G |
single nucleotide variant |
not specified [RCV000186715] |
Chr22:40354238 [GRCh38]
Chr22:40750242 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000293106]|not provided [RCV000727198] |
Chr22:40361532 [GRCh38]
Chr22:40757536 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp) |
single nucleotide variant |
ADSL-related disorder [RCV004755952]|Adenylosuccinate lyase deficiency [RCV000544204]|not provided [RCV002221554] |
Chr22:40364285 [GRCh38]
Chr22:40760289 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000556894] |
Chr22:40364900 [GRCh38]
Chr22:40760904 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000526230]|Inborn genetic diseases [RCV002516223]|not provided [RCV000224729] |
Chr22:40365030 [GRCh38]
Chr22:40761034 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.403-4G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000227251]|not provided [RCV000710484]|not specified [RCV000428118] |
Chr22:40354244 [GRCh38]
Chr22:40750248 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.792+8G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005091658]|not specified [RCV000600686] |
Chr22:40360500 [GRCh38]
Chr22:40756504 [GRCh37]
Chr22:22q13.1 |
likely benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 |
copy number gain |
See cases [RCV000240091] |
Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000026.4(ADSL):c.270T>C (p.Ala90=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001088635]|not provided [RCV000731094]|not specified [RCV000253583] |
Chr22:40349948 [GRCh38]
Chr22:40745952 [GRCh37]
Chr22:22q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 |
copy number gain |
See cases [RCV000240469] |
Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33 |
pathogenic |
| GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 |
copy number gain |
See cases [RCV000240459] |
Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33 |
pathogenic |
| NM_000026.4(ADSL):c.*45A>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000362664] |
Chr22:40366567 [GRCh38]
Chr22:40762571 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-35G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000277016] |
Chr22:40346524 [GRCh38]
Chr22:40742528 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.482+5G>A |
single nucleotide variant |
not provided [RCV000311211] |
Chr22:40354332 [GRCh38]
Chr22:40750336 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.579G>C (p.Leu193=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001150921]|not provided [RCV000349838] |
Chr22:40358960 [GRCh38]
Chr22:40754964 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.808C>T (p.Arg270Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000402231] |
Chr22:40361288 [GRCh38]
Chr22:40757292 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.482+8A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000459291]|not provided [RCV000356986] |
Chr22:40354335 [GRCh38]
Chr22:40750339 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000335846] |
Chr22:40364280 [GRCh38]
Chr22:40760284 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1200T>C (p.His400=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000407816] |
Chr22:40364888 [GRCh38]
Chr22:40760892 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.986G>A (p.Arg329His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001042231]|not provided [RCV000726396] |
Chr22:40361611 [GRCh38]
Chr22:40757615 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.16G>C (p.Asp6His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000551429]|Inborn genetic diseases [RCV002518830]|not provided [RCV000327088] |
Chr22:40346574 [GRCh38]
Chr22:40742578 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.763C>T (p.Leu255=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000341448]|not provided [RCV002261074] |
Chr22:40360463 [GRCh38]
Chr22:40756467 [GRCh37]
Chr22:22q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.153+1G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002525131]|not provided [RCV000523755]|not specified [RCV000610929] |
Chr22:40346712 [GRCh38]
Chr22:40742716 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.856C>G (p.Gln286Glu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001853643]|not provided [RCV000521719] |
Chr22:40361336 [GRCh38]
Chr22:40757340 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1337C>A (p.Pro446His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000785042]|not provided [RCV000726681] |
Chr22:40365025 [GRCh38]
Chr22:40761029 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1256G>T (p.Gly419Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000300825] |
Chr22:40364944 [GRCh38]
Chr22:40760948 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1123C>T (p.Gln375Ter) |
single nucleotide variant |
not provided [RCV000520476] |
Chr22:40364297 [GRCh38]
Chr22:40760301 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001350739]|Inborn genetic diseases [RCV002527600]|not provided [RCV000521643]|not specified [RCV001814999] |
Chr22:40361511 [GRCh38]
Chr22:40757515 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1167G>A (p.Met389Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001351733]|not specified [RCV000412930] |
Chr22:40364341 [GRCh38]
Chr22:40760345 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| 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 |
| NM_000026.4(ADSL):c.1272A>T (p.Ile424=) |
single nucleotide variant |
not provided [RCV000868096]|not specified [RCV000445004] |
Chr22:40364960 [GRCh38]
Chr22:40760964 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.793-5C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002521728]|not provided [RCV005243230]|not specified [RCV000427551] |
Chr22:40361268 [GRCh38]
Chr22:40757272 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000821230]|not provided [RCV000427780] |
Chr22:40364294 [GRCh38]
Chr22:40760298 [GRCh37]
Chr22:22q13.1 |
pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1191+9C>T |
single nucleotide variant |
ADSL-related disorder [RCV003912727]|Adenylosuccinate lyase deficiency [RCV000865875]|not provided [RCV001704325] |
Chr22:40364374 [GRCh38]
Chr22:40760378 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.75G>A (p.Glu25=) |
single nucleotide variant |
not specified [RCV000418370] |
Chr22:40346633 [GRCh38]
Chr22:40742637 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1191+16T>C |
single nucleotide variant |
not specified [RCV000418488] |
Chr22:40364381 [GRCh38]
Chr22:40760385 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001330908]|Inborn genetic diseases [RCV004022419]|not provided [RCV000442215] |
Chr22:40358968 [GRCh38]
Chr22:40754972 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.406G>A (p.Ala136Thr) |
single nucleotide variant |
not provided [RCV001698216] |
Chr22:40354251 [GRCh38]
Chr22:40750255 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1369-17T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002526343]|not provided [RCV004703978]|not specified [RCV000418707] |
Chr22:40366419 [GRCh38]
Chr22:40762423 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.358-5C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002062641]|not specified [RCV000442525] |
Chr22:40353068 [GRCh38]
Chr22:40749072 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1089C>T (p.Val363=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001427748]|not provided [RCV001703619] |
Chr22:40363059 [GRCh38]
Chr22:40759063 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.403-11C>T |
single nucleotide variant |
not specified [RCV000428637] |
Chr22:40354237 [GRCh38]
Chr22:40750241 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002521608]|not provided [RCV000431927] |
Chr22:40346659 [GRCh38]
Chr22:40742663 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.32A>T (p.Asp11Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001044398]|not provided [RCV000439143] |
Chr22:40346590 [GRCh38]
Chr22:40742594 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000696181]|not provided [RCV000435716] |
Chr22:40364967 [GRCh38]
Chr22:40760971 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.-8G>A |
single nucleotide variant |
not specified [RCV000422058] |
Chr22:40346551 [GRCh38]
Chr22:40742555 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.-37C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001861602]|not specified [RCV000425428] |
Chr22:40346522 [GRCh38]
Chr22:40742526 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NM_000026.4(ADSL):c.563G>A (p.Arg188His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000473273]|not provided [RCV000432475] |
Chr22:40358944 [GRCh38]
Chr22:40754948 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.926G>A (p.Arg309His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000465601]|not provided [RCV000443295] |
Chr22:40361551 [GRCh38]
Chr22:40757555 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.271C>T (p.His91Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000764386]|not provided [RCV000419456] |
Chr22:40349949 [GRCh38]
Chr22:40745953 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.483-15T>C |
single nucleotide variant |
not specified [RCV000419638] |
Chr22:40358849 [GRCh38]
Chr22:40754853 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.153+11C>G |
single nucleotide variant |
not specified [RCV000436089] |
Chr22:40346722 [GRCh38]
Chr22:40742726 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.567C>T (p.Val189=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000867063]|not specified [RCV000439679] |
Chr22:40358948 [GRCh38]
Chr22:40754952 [GRCh37]
Chr22:22q13.1 |
benign|likely benign |
| NM_000026.4(ADSL):c.153+7G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002060063]|not specified [RCV000443684] |
Chr22:40346718 [GRCh38]
Chr22:40742722 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.114A>G (p.Thr38=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001505307]|not specified [RCV000440282] |
Chr22:40346672 [GRCh38]
Chr22:40742676 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.20A>G (p.His7Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001202411]|Inborn genetic diseases [RCV004022357]|not provided [RCV000436772] |
Chr22:40346578 [GRCh38]
Chr22:40742582 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000679862]|not provided [RCV000434653] |
Chr22:40349931 [GRCh38]
Chr22:40745935 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002522468]|not provided [RCV000437111] |
Chr22:40365028 [GRCh38]
Chr22:40761032 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000688125]|not provided [RCV000438014] |
Chr22:40366467 [GRCh38]
Chr22:40762471 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1191+11C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002063532]|not specified [RCV000440784] |
Chr22:40364376 [GRCh38]
Chr22:40760380 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1414T>C (p.Tyr472His) |
single nucleotide variant |
not provided [RCV000442330] |
Chr22:40366481 [GRCh38]
Chr22:40762485 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 |
copy number gain |
See cases [RCV000448847] |
Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.1-13.2(chr22:40233644-41655673)x3 |
copy number gain |
See cases [RCV000448955] |
Chr22:40233644..41655673 [GRCh37]
Chr22:22q13.1-13.2 |
uncertain significance |
| NM_000026.4(ADSL):c.916A>G (p.Ser306Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000473217] |
Chr22:40361541 [GRCh38]
Chr22:40757545 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.240A>C (p.Glu80Asp) |
single nucleotide variant |
not provided [RCV000484388] |
Chr22:40349918 [GRCh38]
Chr22:40745922 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001302302]|Inborn genetic diseases [RCV002526952]|not provided [RCV000484518] |
Chr22:40362986 [GRCh38]
Chr22:40758990 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1011-23_1011-20del |
deletion |
not specified [RCV000478048] |
Chr22:40362957..40362960 [GRCh38]
Chr22:40758961..40758964 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1368+8del |
deletion |
Adenylosuccinate lyase deficiency [RCV000873236]|not specified [RCV000478334] |
Chr22:40365063 [GRCh38]
Chr22:40761067 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634533]|not provided [RCV000483104] |
Chr22:40364295 [GRCh38]
Chr22:40760299 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.898C>A (p.Arg300Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001857014]|not provided [RCV000498255] |
Chr22:40361523 [GRCh38]
Chr22:40757527 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.805A>G (p.Ile269Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000706115]|not provided [RCV000498307] |
Chr22:40361285 [GRCh38]
Chr22:40757289 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| 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 |
| NM_000026.4(ADSL):c.541A>T (p.Met181Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634532] |
Chr22:40358922 [GRCh38]
Chr22:40754926 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634534]|Inborn genetic diseases [RCV002529825] |
Chr22:40346629 [GRCh38]
Chr22:40742633 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634535] |
Chr22:40366472 [GRCh38]
Chr22:40762476 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.898C>T (p.Arg300Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634537] |
Chr22:40361523 [GRCh38]
Chr22:40757527 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1355G>A (p.Arg452His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634538] |
Chr22:40365043 [GRCh38]
Chr22:40761047 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.581G>A (p.Arg194His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634539]|not provided [RCV001269550] |
Chr22:40358962 [GRCh38]
Chr22:40754966 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.801C>T (p.Thr267=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634541] |
Chr22:40361281 [GRCh38]
Chr22:40757285 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.870T>C (p.Ser290=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634542] |
Chr22:40361495 [GRCh38]
Chr22:40757499 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.843C>T (p.Pro281=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000532703] |
Chr22:40361323 [GRCh38]
Chr22:40757327 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.408C>T (p.Ala136=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001476772]|not provided [RCV000596859] |
Chr22:40354253 [GRCh38]
Chr22:40750257 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NM_000026.4(ADSL):c.154-7del |
deletion |
Adenylosuccinate lyase deficiency [RCV000534398] |
Chr22:40349824 [GRCh38]
Chr22:40745828 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NC_000022.10:g.(?_40742514)_(40762546_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV000536272] |
Chr22:40742514..40762546 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1369-7C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003105990]|not specified [RCV000603303] |
Chr22:40366429 [GRCh38]
Chr22:40762433 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.72G>A (p.Pro24=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001441240] |
Chr22:40346630 [GRCh38]
Chr22:40742634 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1102-16G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002063132]|not specified [RCV000614052] |
Chr22:40364260 [GRCh38]
Chr22:40760264 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1026C>T (p.Ala342=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003497867]|not specified [RCV000614124] |
Chr22:40362996 [GRCh38]
Chr22:40759000 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.42C>T (p.Arg14=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003497864]|not specified [RCV000614690] |
Chr22:40346600 [GRCh38]
Chr22:40742604 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.9T>C (p.Ala3=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001448851]|not specified [RCV000605501] |
Chr22:40346567 [GRCh38]
Chr22:40742571 [GRCh37]
Chr22:22q13.1 |
likely benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 |
copy number gain |
See cases [RCV000512333] |
Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000026.4(ADSL):c.1350T>C (p.Thr450=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000634545] |
Chr22:40365038 [GRCh38]
Chr22:40761042 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.558G>A (p.Leu186=) |
single nucleotide variant |
not specified [RCV000607068] |
Chr22:40358939 [GRCh38]
Chr22:40754943 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.863-20T>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002066609]|not specified [RCV000607072] |
Chr22:40361468 [GRCh38]
Chr22:40757472 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.541A>G (p.Met181Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000700498]|Inborn genetic diseases [RCV003279020]|not provided [RCV004794443] |
Chr22:40358922 [GRCh38]
Chr22:40754926 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.586C>T (p.Arg196Trp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000704389] |
Chr22:40358967 [GRCh38]
Chr22:40754971 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.36C>A (p.Ser12Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000697335] |
Chr22:40346594 [GRCh38]
Chr22:40742598 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.550C>T (p.Gln184Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000707388]|not provided [RCV004721573] |
Chr22:40358931 [GRCh38]
Chr22:40754935 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000696185] |
Chr22:40364288 [GRCh38]
Chr22:40760292 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.407C>T (p.Ala136Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000696779] |
Chr22:40354252 [GRCh38]
Chr22:40750256 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.155C>A (p.Thr52Lys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000692090] |
Chr22:40349833 [GRCh38]
Chr22:40745837 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1393G>C (p.Val465Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000767890] |
Chr22:40366460 [GRCh38]
Chr22:40762464 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| 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 22q11.1-13.33(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_000026.4(ADSL):c.403-101C>T |
single nucleotide variant |
not provided [RCV001645306] |
Chr22:40354147 [GRCh38]
Chr22:40750151 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002536581]|not provided [RCV000760928] |
Chr22:40363065 [GRCh38]
Chr22:40759069 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 |
copy number gain |
not provided [RCV001007181] |
Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33 |
pathogenic |
| NC_000022.11:g.(?_40358844)_(40366542_?)del |
deletion |
Adenylosuccinate lyase deficiency [RCV001031709] |
Chr22:40754848..40762546 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.15C>T (p.Gly5=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001046467] |
Chr22:40346573 [GRCh38]
Chr22:40742577 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NM_000026.4(ADSL):c.154-9A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000879521] |
Chr22:40349823 [GRCh38]
Chr22:40745827 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.608G>A (p.Gly203Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001055322] |
Chr22:40358989 [GRCh38]
Chr22:40754993 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.842C>T (p.Pro281Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001062284] |
Chr22:40361322 [GRCh38]
Chr22:40757326 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 |
copy number gain |
not provided [RCV001007502] |
Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33 |
pathogenic |
| NM_000026.4(ADSL):c.347G>A (p.Gly116Glu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001058729] |
Chr22:40350025 [GRCh38]
Chr22:40746029 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.853C>G (p.Gln285Glu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001062077] |
Chr22:40361333 [GRCh38]
Chr22:40757337 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1365G>T (p.Gln455His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001048058] |
Chr22:40365053 [GRCh38]
Chr22:40761057 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001039736]|Inborn genetic diseases [RCV004973265]|not provided [RCV004721720] |
Chr22:40364923 [GRCh38]
Chr22:40760927 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000767889] |
Chr22:40360434 [GRCh38]
Chr22:40756438 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.153+274T>C |
single nucleotide variant |
not provided [RCV000827727] |
Chr22:40346985 [GRCh38]
Chr22:40742989 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.429C>T (p.Ala143=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001394484] |
Chr22:40354274 [GRCh38]
Chr22:40750278 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.273C>T (p.His91=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000862323] |
Chr22:40349951 [GRCh38]
Chr22:40745955 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1422C>T (p.Ser474=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001430088] |
Chr22:40366489 [GRCh38]
Chr22:40762493 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.153+116A>G |
single nucleotide variant |
not provided [RCV000834042]|not specified [RCV004594174] |
Chr22:40346827 [GRCh38]
Chr22:40742831 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.357+172T>C |
single nucleotide variant |
not provided [RCV000837676] |
Chr22:40350207 [GRCh38]
Chr22:40746211 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.357+173C>T |
single nucleotide variant |
not provided [RCV000837677] |
Chr22:40350208 [GRCh38]
Chr22:40746212 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.779C>T (p.Ala260Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000797966] |
Chr22:40360479 [GRCh38]
Chr22:40756483 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.863-11T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002062226]|not provided [RCV000828825] |
Chr22:40361477 [GRCh38]
Chr22:40757481 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000810822] |
Chr22:40362997 [GRCh38]
Chr22:40759001 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.451A>G (p.Ser151Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000799764] |
Chr22:40354296 [GRCh38]
Chr22:40750300 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1102-77T>G |
single nucleotide variant |
not provided [RCV000834570] |
Chr22:40364199 [GRCh38]
Chr22:40760203 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.994G>C (p.Asp332His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000990447] |
Chr22:40361619 [GRCh38]
Chr22:40757623 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.1011-3T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000822000] |
Chr22:40362978 [GRCh38]
Chr22:40758982 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.483-41_483-38del |
deletion |
not provided [RCV000829786]|not specified [RCV004594139] |
Chr22:40358823..40358826 [GRCh38]
Chr22:40754827..40754830 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.842C>G (p.Pro281Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000818257]|not provided [RCV002535467] |
Chr22:40361322 [GRCh38]
Chr22:40757326 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.153+206C>T |
single nucleotide variant |
not provided [RCV000838917] |
Chr22:40346917 [GRCh38]
Chr22:40742921 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.1101+158T>C |
single nucleotide variant |
not provided [RCV000838918] |
Chr22:40363229 [GRCh38]
Chr22:40759233 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1102-230C>T |
single nucleotide variant |
not provided [RCV000838919] |
Chr22:40364046 [GRCh38]
Chr22:40760050 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del) |
microsatellite |
Adenylosuccinate lyase deficiency [RCV000990448] |
Chr22:40364326..40364328 [GRCh38]
Chr22:40760330..40760332 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.1413A>G (p.Pro471=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000796829] |
Chr22:40366480 [GRCh38]
Chr22:40762484 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NM_000026.4(ADSL):c.1010+45C>G |
single nucleotide variant |
not provided [RCV000835424] |
Chr22:40361680 [GRCh38]
Chr22:40757684 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.483-226G>A |
single nucleotide variant |
not provided [RCV000837245] |
Chr22:40358638 [GRCh38]
Chr22:40754642 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.611C>G (p.Thr204Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000804178] |
Chr22:40358992 [GRCh38]
Chr22:40754996 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.482+281T>C |
single nucleotide variant |
not provided [RCV000827895] |
Chr22:40354608 [GRCh38]
Chr22:40750612 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.205C>G (p.Leu69Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000804581] |
Chr22:40349883 [GRCh38]
Chr22:40745887 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.649C>T (p.His217Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000797767] |
Chr22:40359030 [GRCh38]
Chr22:40755034 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.896T>C (p.Met299Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000808407]|Inborn genetic diseases [RCV004972983] |
Chr22:40361521 [GRCh38]
Chr22:40757525 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000824613] |
Chr22:40359004 [GRCh38]
Chr22:40755008 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.402+1G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000810236]|not provided [RCV003329344] |
Chr22:40353118 [GRCh38]
Chr22:40749122 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.-29G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001146693] |
Chr22:40346530 [GRCh38]
Chr22:40742534 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.578T>C (p.Leu193Pro) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001150920] |
Chr22:40358959 [GRCh38]
Chr22:40754963 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.702-3T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001150922] |
Chr22:40360399 [GRCh38]
Chr22:40756403 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1011-9G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001150924] |
Chr22:40362972 [GRCh38]
Chr22:40758976 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.41G>T (p.Arg14Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000812500] |
Chr22:40346599 [GRCh38]
Chr22:40742603 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.183A>C (p.Gln61His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000798632]|not provided [RCV003325520] |
Chr22:40349861 [GRCh38]
Chr22:40745865 [GRCh37]
Chr22:22q13.1 |
pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000822391] |
Chr22:40365031 [GRCh38]
Chr22:40761035 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1101+233A>G |
single nucleotide variant |
not provided [RCV000837678] |
Chr22:40363304 [GRCh38]
Chr22:40363304..40363305 [GRCh38]
Chr22:40759308 [GRCh37]
Chr22:40759308..40759309 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.1359C>T (p.Ala453=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001414468] |
Chr22:40365047 [GRCh38]
Chr22:40761051 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346413C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001517151]|not provided [RCV000829785] |
Chr22:40346413 [GRCh38]
Chr22:40742417 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.793-49A>C |
single nucleotide variant |
not provided [RCV000830051] |
Chr22:40361224 [GRCh38]
Chr22:40757228 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.862+10G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000981625] |
Chr22:40361352 [GRCh38]
Chr22:40757356 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000795626] |
Chr22:40364919 [GRCh38]
Chr22:40760923 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.(?_40364256)_(40366542_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001032082] |
Chr22:40760260..40762546 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.217G>A (p.Asp73Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002549987]|not provided [RCV000997933] |
Chr22:40349895 [GRCh38]
Chr22:40745899 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1368+10C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001479043] |
Chr22:40365066 [GRCh38]
Chr22:40761070 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.793-3C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001046900] |
Chr22:40361270 [GRCh38]
Chr22:40757274 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.(?_40346510)_(40366542_?)del |
deletion |
Adenylosuccinate lyase deficiency [RCV001032158] |
Chr22:40742514..40762546 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.869G>A (p.Ser290Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001220741] |
Chr22:40361494 [GRCh38]
Chr22:40757498 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.135G>A (p.Trp45Ter) |
single nucleotide variant |
ADSL-related disorder [RCV004756193]|Adenylosuccinate lyase deficiency [RCV001220597] |
Chr22:40346693 [GRCh38]
Chr22:40742697 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.257A>G (p.His86Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001224951] |
Chr22:40349935 [GRCh38]
Chr22:40745939 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.809G>A (p.Arg270His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001225335] |
Chr22:40361289 [GRCh38]
Chr22:40757293 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.153G>A (p.Gln51=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001223265] |
Chr22:40346711 [GRCh38]
Chr22:40742715 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.832A>G (p.Met278Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001219514] |
Chr22:40361312 [GRCh38]
Chr22:40757316 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 |
copy number gain |
not provided [RCV000846344] |
Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000026.4(ADSL):c.242A>G (p.Glu81Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003273488] |
Chr22:40349920 [GRCh38]
Chr22:40745924 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000990446] |
Chr22:40360425 [GRCh38]
Chr22:40756429 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NM_000026.4(ADSL):c.268G>A (p.Ala90Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV000995690] |
Chr22:40349946 [GRCh38]
Chr22:40745950 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.11:g.40346495C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001146692] |
Chr22:40346495 [GRCh38]
Chr22:40742499 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.962C>T (p.Thr321Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001043302]|Inborn genetic diseases [RCV004973273] |
Chr22:40361587 [GRCh38]
Chr22:40757591 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.872C>T (p.Ala291Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001150923] |
Chr22:40361497 [GRCh38]
Chr22:40757501 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346283_40346292del |
deletion |
Adenylosuccinate lyase deficiency [RCV003104767] |
Chr22:40346281..40346290 [GRCh38]
Chr22:40742285..40742294 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1088T>C (p.Val363Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002570686]|not provided [RCV001550362] |
Chr22:40363058 [GRCh38]
Chr22:40759062 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NC_000022.11:g.40346222C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003106833] |
Chr22:40346222 [GRCh38]
Chr22:40742226 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1192-5C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002072914]|not provided [RCV001610053] |
Chr22:40364875 [GRCh38]
Chr22:40760879 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.357+112del |
deletion |
not provided [RCV001593666] |
Chr22:40350134 [GRCh38]
Chr22:40746138 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1192-59T>G |
single nucleotide variant |
not provided [RCV001595299] |
Chr22:40364821 [GRCh38]
Chr22:40760825 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.465A>G (p.Leu155=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001442662] |
Chr22:40354310 [GRCh38]
Chr22:40750314 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.403-7C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001410890] |
Chr22:40354241 [GRCh38]
Chr22:40750245 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.873G>A (p.Ala291=) |
single nucleotide variant |
ADSL-related disorder [RCV003942887]|Adenylosuccinate lyase deficiency [RCV001422082] |
Chr22:40361498 [GRCh38]
Chr22:40757502 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.49C>T (p.Leu17Phe) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001238846] |
Chr22:40346607 [GRCh38]
Chr22:40742611 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.271C>G (p.His91Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001244507] |
Chr22:40349949 [GRCh38]
Chr22:40745953 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001144830] |
Chr22:40365042 [GRCh38]
Chr22:40761046 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.632T>A (p.Leu211His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001237538] |
Chr22:40359013 [GRCh38]
Chr22:40755017 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.403-3T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001246622] |
Chr22:40354245 [GRCh38]
Chr22:40750249 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.140C>T (p.Ala47Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001225588] |
Chr22:40346698 [GRCh38]
Chr22:40742702 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.357+7G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002073416]|not provided [RCV001730224] |
Chr22:40350042 [GRCh38]
Chr22:40746046 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1102-18C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001866258]|not provided [RCV001613498] |
Chr22:40364258 [GRCh38]
Chr22:40760262 [GRCh37]
Chr22:22q13.1 |
benign|likely benign|uncertain significance |
| NM_000026.4(ADSL):c.*20G>A |
single nucleotide variant |
not provided [RCV001715463] |
Chr22:40366542 [GRCh38]
Chr22:40762546 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.792+246dup |
duplication |
not provided [RCV001638299] |
Chr22:40360726..40360727 [GRCh38]
Chr22:40756730..40756731 [GRCh37]
Chr22:22q13.1 |
benign |
| GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)x3 |
copy number gain |
not provided [RCV001007190] |
Chr22:40665986..41370008 [GRCh37]
Chr22:22q13.1-13.2 |
uncertain significance |
| NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001144829] |
Chr22:40364941 [GRCh38]
Chr22:40760945 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.357+112dup |
duplication |
not provided [RCV001666965] |
Chr22:40350133..40350134 [GRCh38]
Chr22:40746137..40746138 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.357+111T>C |
single nucleotide variant |
not provided [RCV001614008] |
Chr22:40350146 [GRCh38]
Chr22:40746150 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.402+281C>T |
single nucleotide variant |
not provided [RCV001691719] |
Chr22:40353398 [GRCh38]
Chr22:40749402 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.792+148A>C |
single nucleotide variant |
not provided [RCV001665863] |
Chr22:40360640 [GRCh38]
Chr22:40756644 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.977G>A (p.Trp326Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001050339] |
Chr22:40361602 [GRCh38]
Chr22:40757606 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.11:g.(?_40346510)_(40353137_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001031566] |
Chr22:40742514..40749141 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.357+238A>G |
single nucleotide variant |
not provided [RCV001725617] |
Chr22:40350273 [GRCh38]
Chr22:40746277 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.785T>C (p.Val262Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001206286] |
Chr22:40360485 [GRCh38]
Chr22:40756489 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.8C>G (p.Ala3Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001060867] |
Chr22:40346566 [GRCh38]
Chr22:40742570 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001201984] |
Chr22:40363012 [GRCh38]
Chr22:40759016 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.161G>A (p.Gly54Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001061282]|not provided [RCV002284461] |
Chr22:40349839 [GRCh38]
Chr22:40745843 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001220104] |
Chr22:40354291 [GRCh38]
Chr22:40750295 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.919C>T (p.Leu307Phe) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001208135] |
Chr22:40361544 [GRCh38]
Chr22:40757548 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.475C>T (p.His159Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001207292] |
Chr22:40354320 [GRCh38]
Chr22:40750324 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.370C>A (p.Leu124Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001228245] |
Chr22:40353085 [GRCh38]
Chr22:40749089 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001039703]|not provided [RCV001268745] |
Chr22:40364360 [GRCh38]
Chr22:40760364 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1102-6C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001064875] |
Chr22:40364270 [GRCh38]
Chr22:40760274 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.366T>G (p.Ile122Met) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001228244] |
Chr22:40353081 [GRCh38]
Chr22:40749085 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1187del (p.Arg396fs) |
deletion |
Adenylosuccinate lyase deficiency [RCV001203918] |
Chr22:40364361 [GRCh38]
Chr22:40760365 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1022T>C (p.Leu341Ser) |
single nucleotide variant |
Intellectual disability [RCV001251876] |
Chr22:40362992 [GRCh38]
Chr22:40758996 [GRCh37]
Chr22:22q13.1 |
likely benign |
| GRCh37/hg19 22q13.1(chr22:40723778-40774437)x1 |
copy number loss |
not provided [RCV001258782] |
Chr22:40723778..40774437 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-49T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002221270]|Inborn genetic diseases [RCV001266879] |
Chr22:40346510 [GRCh38]
Chr22:40742514 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NM_000026.4(ADSL):c.934A>T (p.Met312Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV001266880] |
Chr22:40361559 [GRCh38]
Chr22:40757563 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 |
copy number gain |
See cases [RCV001263056] |
Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000026.4(ADSL):c.946A>G (p.Met316Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001262431] |
Chr22:40361571 [GRCh38]
Chr22:40757575 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.617C>G (p.Ala206Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001336062] |
Chr22:40358998 [GRCh38]
Chr22:40755002 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.439A>G (p.Lys147Glu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001330906]|Inborn genetic diseases [RCV004035707] |
Chr22:40354284 [GRCh38]
Chr22:40750288 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001338975] |
Chr22:40364940 [GRCh38]
Chr22:40760944 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.10:g.(?_40742514)_(40762546_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001294714] |
Chr22:40742514..40762546 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.226A>C (p.Met76Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001318656] |
Chr22:40349904 [GRCh38]
Chr22:40745908 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001309060] |
Chr22:40364946 [GRCh38]
Chr22:40760950 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.978G>T (p.Trp326Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001304564] |
Chr22:40361603 [GRCh38]
Chr22:40757607 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.854A>G (p.Gln285Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001340795] |
Chr22:40361334 [GRCh38]
Chr22:40757338 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.802G>A (p.Asp268Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001382689] |
Chr22:40361282 [GRCh38]
Chr22:40757286 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001313022] |
Chr22:40365046 [GRCh38]
Chr22:40761050 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.666del (p.Asp223fs) |
deletion |
Adenylosuccinate lyase deficiency [RCV001383241] |
Chr22:40359270 [GRCh38]
Chr22:40755274 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1102-7C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001396334] |
Chr22:40364269 [GRCh38]
Chr22:40760273 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.100T>C (p.Tyr34His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001325958] |
Chr22:40346658 [GRCh38]
Chr22:40742662 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345934G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001373666] |
Chr22:40345934 [GRCh38]
Chr22:40741938 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1051A>G (p.Ile351Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001362139] |
Chr22:40363021 [GRCh38]
Chr22:40759025 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.644A>G (p.Asp215Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001368288] |
Chr22:40359025 [GRCh38]
Chr22:40755029 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345887C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001373493] |
Chr22:40345887 [GRCh38]
Chr22:40741891 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.319C>T (p.His107Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001373726] |
Chr22:40349997 [GRCh38]
Chr22:40746001 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.422G>C (p.Arg141Pro) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001300027] |
Chr22:40354267 [GRCh38]
Chr22:40750271 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.46C>T (p.Pro16Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001365148] |
Chr22:40346604 [GRCh38]
Chr22:40742608 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1053A>G (p.Ile351Met) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001294247] |
Chr22:40363023 [GRCh38]
Chr22:40759027 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1101+6_1101+8del |
microsatellite |
Adenylosuccinate lyase deficiency [RCV001365221] |
Chr22:40363074..40363076 [GRCh38]
Chr22:40759078..40759080 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.10:g.(?_40742514)_(40749141_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001322043] |
Chr22:40742514..40749141 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.818C>T (p.Ala273Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001338123] |
Chr22:40361298 [GRCh38]
Chr22:40757302 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-12C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001323269] |
Chr22:40346547 [GRCh38]
Chr22:40742551 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.17A>T (p.Asp6Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001338365] |
Chr22:40346575 [GRCh38]
Chr22:40742579 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.464T>C (p.Leu155Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001323574] |
Chr22:40354309 [GRCh38]
Chr22:40750313 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346060T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001352625] |
Chr22:40346060 [GRCh38]
Chr22:40742064 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.357+4G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001339567] |
Chr22:40350039 [GRCh38]
Chr22:40746043 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.47C>T (p.Pro16Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001317495] |
Chr22:40346605 [GRCh38]
Chr22:40742609 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1102-4A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001326174] |
Chr22:40364272 [GRCh38]
Chr22:40760276 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001366584] |
Chr22:40350019 [GRCh38]
Chr22:40746023 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.502G>A (p.Val168Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001330907]|not provided [RCV001509099] |
Chr22:40358883 [GRCh38]
Chr22:40754887 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.792+6T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001305891] |
Chr22:40360498 [GRCh38]
Chr22:40756502 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001369328] |
Chr22:40365037 [GRCh38]
Chr22:40761041 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.258T>G (p.His86Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001312757] |
Chr22:40349936 [GRCh38]
Chr22:40745940 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001365973] |
Chr22:40366510 [GRCh38]
Chr22:40762514 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1191+12dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001451543] |
Chr22:40364373..40364374 [GRCh38]
Chr22:40760377..40760378 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.342T>C (p.Tyr114=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001460125] |
Chr22:40350020 [GRCh38]
Chr22:40746024 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345636C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001522299] |
Chr22:40345636 [GRCh38]
Chr22:40741640 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.528T>C (p.Ile176=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001463128] |
Chr22:40358909 [GRCh38]
Chr22:40754913 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.894C>T (p.Pro298=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001493234] |
Chr22:40361519 [GRCh38]
Chr22:40757523 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.482+9T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001504050] |
Chr22:40354336 [GRCh38]
Chr22:40750340 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345588_40345589insAAAAG |
insertion |
Adenylosuccinate lyase deficiency [RCV001523319] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
benign |
| NC_000022.11:g.40345589G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001523322] |
Chr22:40345589 [GRCh38]
Chr22:40741593 [GRCh37]
Chr22:22q13.1 |
benign |
| NC_000022.11:g.40345614_40345615del |
deletion |
Adenylosuccinate lyase deficiency [RCV001523323] |
Chr22:40345613..40345614 [GRCh38]
Chr22:40741617..40741618 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.1026del (p.Glu343fs) |
deletion |
Adenylosuccinate lyase deficiency [RCV001382329] |
Chr22:40362995 [GRCh38]
Chr22:40758999 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.10:g.(?_40742514)_(40762526_?)del |
deletion |
Adenylosuccinate lyase deficiency [RCV001380702] |
Chr22:40742514..40762526 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1122G>T (p.Arg374=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001436627] |
Chr22:40364296 [GRCh38]
Chr22:40760300 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.829G>T (p.Glu277Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001384334] |
Chr22:40361309 [GRCh38]
Chr22:40757313 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.435T>C (p.Phe145=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001453919] |
Chr22:40354280 [GRCh38]
Chr22:40750284 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.701+113A>G |
single nucleotide variant |
not provided [RCV001666768] |
Chr22:40359419 [GRCh38]
Chr22:40755423 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.402+157TTC[2] |
microsatellite |
not provided [RCV001588376] |
Chr22:40353274..40353276 [GRCh38]
Chr22:40749278..40749280 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1314C>G (p.Ser438=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001451269] |
Chr22:40365002 [GRCh38]
Chr22:40761006 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345516C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001515756] |
Chr22:40345516 [GRCh38]
Chr22:40741520 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.438T>C (p.Ala146=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001459078] |
Chr22:40354283 [GRCh38]
Chr22:40750287 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1102-190dup |
duplication |
not provided [RCV001674679] |
Chr22:40364076..40364077 [GRCh38]
Chr22:40760080..40760081 [GRCh37]
Chr22:22q13.1 |
benign |
| NC_000022.11:g.40345596_40345597dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001512314] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
benign |
| NC_000022.11:g.40345817G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001512252] |
Chr22:40345817 [GRCh38]
Chr22:40741821 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.684A>G (p.Glu228=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001480293] |
Chr22:40359289 [GRCh38]
Chr22:40755293 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345588A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001516263] |
Chr22:40345588 [GRCh38]
Chr22:40741592 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.823C>T (p.Leu275Phe) |
single nucleotide variant |
not provided [RCV001508019] |
Chr22:40361303 [GRCh38]
Chr22:40757307 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1416T>C (p.Tyr472=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001451067] |
Chr22:40366483 [GRCh38]
Chr22:40762487 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1011-5del |
deletion |
Adenylosuccinate lyase deficiency [RCV001511240] |
Chr22:40362973 [GRCh38]
Chr22:40758977 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.999T>C (p.Asp333=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001496871] |
Chr22:40361624 [GRCh38]
Chr22:40757628 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.10:g.(?_40760260)_(40762546_?)del |
deletion |
Adenylosuccinate lyase deficiency [RCV001377197] |
Chr22:40760260..40762546 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.955del (p.Leu319fs) |
deletion |
Adenylosuccinate lyase deficiency [RCV001387368] |
Chr22:40361580 [GRCh38]
Chr22:40757584 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.11:g.40345499dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001518384] |
Chr22:40345498..40345499 [GRCh38]
Chr22:40741502..40741503 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.879A>G (p.Pro293=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001394381] |
Chr22:40361504 [GRCh38]
Chr22:40757508 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1452G>C (p.Leu484=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003108578] |
Chr22:40366519 [GRCh38]
Chr22:40762523 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1191+5G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603114]|not provided [RCV002254977] |
Chr22:40364370 [GRCh38]
Chr22:40364370..40364371 [GRCh38]
Chr22:40760374 [GRCh37]
Chr22:40760374..40760375 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NM_000026.4(ADSL):c.358-1G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001785896] |
Chr22:40353072 [GRCh38]
Chr22:40749076 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.562C>T (p.Arg188Cys) |
single nucleotide variant |
not provided [RCV001764776] |
Chr22:40358943 [GRCh38]
Chr22:40754947 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002034624]|not provided [RCV001786850] |
Chr22:40364279 [GRCh38]
Chr22:40760283 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.655-42_655-8del |
deletion |
Adenylosuccinate lyase deficiency [RCV002041321] |
Chr22:40359216..40359250 [GRCh38]
Chr22:40755220..40755254 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346329A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001928900] |
Chr22:40346329 [GRCh38]
Chr22:40742333 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.891T>A (p.Asn297Lys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001914563] |
Chr22:40361516 [GRCh38]
Chr22:40757520 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346276G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001915551] |
Chr22:40346276 [GRCh38]
Chr22:40742280 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346230C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001983328] |
Chr22:40346230 [GRCh38]
Chr22:40742234 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.244A>C (p.Lys82Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002003989] |
Chr22:40349922 [GRCh38]
Chr22:40745926 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346228C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001971678] |
Chr22:40346228 [GRCh38]
Chr22:40742232 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346493G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001892467] |
Chr22:40346493 [GRCh38]
Chr22:40742497 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.913T>G (p.Cys305Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001910276]|not provided [RCV004598162] |
Chr22:40361538 [GRCh38]
Chr22:40757542 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345905C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002022998] |
Chr22:40345905 [GRCh38]
Chr22:40741909 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346488G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002042069] |
Chr22:40346488 [GRCh38]
Chr22:40742492 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1159A>G (p.Met387Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001988172] |
Chr22:40364333 [GRCh38]
Chr22:40760337 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1423G>A (p.Val475Met) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001927594] |
Chr22:40366490 [GRCh38]
Chr22:40762494 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346489C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001863574] |
Chr22:40346489 [GRCh38]
Chr22:40742493 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345566G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001988502] |
Chr22:40345566 [GRCh38]
Chr22:40741570 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346058C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001873980] |
Chr22:40346058 [GRCh38]
Chr22:40742062 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-31C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001986150] |
Chr22:40346528 [GRCh38]
Chr22:40742532 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.10G>A (p.Gly4Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002045005] |
Chr22:40346568 [GRCh38]
Chr22:40742572 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345590G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001971139] |
Chr22:40345590 [GRCh38]
Chr22:40741594 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345563C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001914936] |
Chr22:40345563 [GRCh38]
Chr22:40741567 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345742T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001970795] |
Chr22:40345742 [GRCh38]
Chr22:40741746 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345639T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001894373] |
Chr22:40345639 [GRCh38]
Chr22:40741643 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345676G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001864202] |
Chr22:40345676 [GRCh38]
Chr22:40741680 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345635T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001949103] |
Chr22:40345635 [GRCh38]
Chr22:40741639 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345592G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002023447] |
Chr22:40345592 [GRCh38]
Chr22:40741596 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1090G>A (p.Val364Met) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001971171] |
Chr22:40363060 [GRCh38]
Chr22:40759064 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NC_000022.11:g.40345968C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001874608] |
Chr22:40345968 [GRCh38]
Chr22:40741972 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.712A>G (p.Ile238Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001971176] |
Chr22:40360412 [GRCh38]
Chr22:40756416 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345462C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001908672] |
Chr22:40345462 [GRCh38]
Chr22:40741466 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345820del |
deletion |
Adenylosuccinate lyase deficiency [RCV001870749] |
Chr22:40345820 [GRCh38]
Chr22:40741824 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345595G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001966498] |
Chr22:40345595 [GRCh38]
Chr22:40741599 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346305G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001927523] |
Chr22:40346305 [GRCh38]
Chr22:40742309 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345604G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002004239] |
Chr22:40345604 [GRCh38]
Chr22:40741608 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.611C>T (p.Thr204Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001986185] |
Chr22:40358992 [GRCh38]
Chr22:40754996 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345513A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001891674] |
Chr22:40345513 [GRCh38]
Chr22:40741517 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.10:g.(?_39621728)_(41077932_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001910122] |
Chr22:39621728..41077932 [GRCh37]
Chr22:22q13.1-13.2 |
uncertain significance |
| NC_000022.11:g.40345770A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001894164] |
Chr22:40345770 [GRCh38]
Chr22:40741774 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345495T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001945369] |
Chr22:40345495 [GRCh38]
Chr22:40741499 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.357T>C (p.Thr119=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001871168] |
Chr22:40350035 [GRCh38]
Chr22:40746039 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345568C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002004322] |
Chr22:40345568 [GRCh38]
Chr22:40741572 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-44C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001911814] |
Chr22:40346515 [GRCh38]
Chr22:40742519 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345560T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001911031] |
Chr22:40345560 [GRCh38]
Chr22:40741564 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1138A>G (p.Met380Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002005733] |
Chr22:40364312 [GRCh38]
Chr22:40760316 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345647dup |
duplication |
Adenylosuccinate lyase deficiency [RCV002042531] |
Chr22:40345641..40345642 [GRCh38]
Chr22:40741645..40741646 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346353G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002005113] |
Chr22:40346353 [GRCh38]
Chr22:40742357 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345697C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001947449] |
Chr22:40345697 [GRCh38]
Chr22:40741701 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346039dup |
duplication |
Adenylosuccinate lyase deficiency [RCV002001696] |
Chr22:40346037..40346038 [GRCh38]
Chr22:40742041..40742042 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346401G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002024310] |
Chr22:40346401 [GRCh38]
Chr22:40742405 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345705A>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001913254] |
Chr22:40345705 [GRCh38]
Chr22:40741709 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1261_1263del (p.Asn421del) |
deletion |
Adenylosuccinate lyase deficiency [RCV001928209] |
Chr22:40364949..40364951 [GRCh38]
Chr22:40760953..40760955 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-35G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001911041] |
Chr22:40346524 [GRCh38]
Chr22:40742528 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346143T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001984702] |
Chr22:40346143 [GRCh38]
Chr22:40742147 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.51T>A (p.Leu17=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001912736] |
Chr22:40346609 [GRCh38]
Chr22:40742613 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NC_000022.11:g.40346165G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002008120] |
Chr22:40346165 [GRCh38]
Chr22:40742169 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345472C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001912018] |
Chr22:40345472 [GRCh38]
Chr22:40741476 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345764G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002023854] |
Chr22:40345764 [GRCh38]
Chr22:40741768 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.28C>G (p.Pro10Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002006925] |
Chr22:40346586 [GRCh38]
Chr22:40742590 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345624A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002006207] |
Chr22:40345624 [GRCh38]
Chr22:40741628 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-56T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001913565] |
Chr22:40346503 [GRCh38]
Chr22:40742507 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345473G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001909183] |
Chr22:40345473 [GRCh38]
Chr22:40741477 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.216C>G (p.Ile72Met) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001870821] |
Chr22:40349894 [GRCh38]
Chr22:40745898 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.974A>G (p.Gln325Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001911829] |
Chr22:40361599 [GRCh38]
Chr22:40757603 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346386T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001949043] |
Chr22:40346386 [GRCh38]
Chr22:40742390 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346371G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002005948] |
Chr22:40346371 [GRCh38]
Chr22:40742375 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346188G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001894131] |
Chr22:40346188 [GRCh38]
Chr22:40742192 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.173C>G (p.Thr58Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001968996] |
Chr22:40349851 [GRCh38]
Chr22:40745855 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-20G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001947971] |
Chr22:40346539 [GRCh38]
Chr22:40742543 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346358T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001894169] |
Chr22:40346358 [GRCh38]
Chr22:40742362 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.402+6G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001948178] |
Chr22:40353123 [GRCh38]
Chr22:40749127 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346427C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001969717] |
Chr22:40346427 [GRCh38]
Chr22:40742431 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346158del |
deletion |
Adenylosuccinate lyase deficiency [RCV001985180] |
Chr22:40346158 [GRCh38]
Chr22:40742162 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.31G>C (p.Asp11His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002022422] |
Chr22:40346589 [GRCh38]
Chr22:40742593 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345597G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001969399] |
Chr22:40345597 [GRCh38]
Chr22:40741601 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345699del |
deletion |
Adenylosuccinate lyase deficiency [RCV001964450] |
Chr22:40345698 [GRCh38]
Chr22:40741702 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-27C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001911033] |
Chr22:40346532 [GRCh38]
Chr22:40742536 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345661C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002002658] |
Chr22:40345661 [GRCh38]
Chr22:40741665 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345933T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001913349] |
Chr22:40345933 [GRCh38]
Chr22:40741937 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1368+4A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002002918] |
Chr22:40365060 [GRCh38]
Chr22:40761064 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346189T>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001908478] |
Chr22:40346189 [GRCh38]
Chr22:40742193 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346432C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002043713] |
Chr22:40346432 [GRCh38]
Chr22:40742436 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-11G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002021896] |
Chr22:40346548 [GRCh38]
Chr22:40742552 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.245A>G (p.Lys82Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001892871] |
Chr22:40349923 [GRCh38]
Chr22:40745927 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346289A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001910234] |
Chr22:40346289 [GRCh38]
Chr22:40742293 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.845T>C (p.Phe282Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001891766] |
Chr22:40361325 [GRCh38]
Chr22:40757329 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346247A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001910393] |
Chr22:40346247 [GRCh38]
Chr22:40742251 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346032_40346033del |
deletion |
Adenylosuccinate lyase deficiency [RCV001983791] |
Chr22:40346032..40346033 [GRCh38]
Chr22:40742036..40742037 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345590G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001886568] |
Chr22:40345590 [GRCh38]
Chr22:40741594 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346063C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001943065] |
Chr22:40346063 [GRCh38]
Chr22:40742067 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1428G>A (p.Met476Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001878718] |
Chr22:40366495 [GRCh38]
Chr22:40762499 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345694G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002014338] |
Chr22:40345694 [GRCh38]
Chr22:40741698 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346019G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002035990] |
Chr22:40346019 [GRCh38]
Chr22:40742023 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.10:g.(?_40749057)_(40750351_?)del |
deletion |
Adenylosuccinate lyase deficiency [RCV001941833] |
Chr22:40749057..40750351 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.11:g.40346357C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002037107] |
Chr22:40346357 [GRCh38]
Chr22:40742361 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346409T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001876371] |
Chr22:40346409 [GRCh38]
Chr22:40742413 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346402G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001953140] |
Chr22:40346402 [GRCh38]
Chr22:40742406 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345919C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002019368] |
Chr22:40345919 [GRCh38]
Chr22:40741923 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346478G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001879033] |
Chr22:40346478 [GRCh38]
Chr22:40742482 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.628C>T (p.Gln210Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002037760] |
Chr22:40359009 [GRCh38]
Chr22:40755013 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.11:g.40346424G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002020243] |
Chr22:40346424 [GRCh38]
Chr22:40742428 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001898164] |
Chr22:40366515 [GRCh38]
Chr22:40762519 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.590G>A (p.Gly197Glu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001888192] |
Chr22:40358971 [GRCh38]
Chr22:40754975 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.820A>G (p.Asn274Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001941136] |
Chr22:40361300 [GRCh38]
Chr22:40757304 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002010963] |
Chr22:40365043 [GRCh38]
Chr22:40761047 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.78G>A (p.Met26Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001918325] |
Chr22:40346636 [GRCh38]
Chr22:40742640 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NM_000026.4(ADSL):c.1444T>C (p.Leu482=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001942040] |
Chr22:40366511 [GRCh38]
Chr22:40762515 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345530C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002018567] |
Chr22:40345530 [GRCh38]
Chr22:40741534 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345598C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002030322] |
Chr22:40345598 [GRCh38]
Chr22:40741602 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346158C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001979427] |
Chr22:40346158 [GRCh38]
Chr22:40742162 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.733C>T (p.Arg245Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001942110] |
Chr22:40360433 [GRCh38]
Chr22:40756437 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.357+1G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002017498] |
Chr22:40350036 [GRCh38]
Chr22:40746040 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NC_000022.11:g.40345643T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002019323] |
Chr22:40345643 [GRCh38]
Chr22:40741647 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345855C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002047653] |
Chr22:40345855 [GRCh38]
Chr22:40741859 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346313A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001990611] |
Chr22:40346313 [GRCh38]
Chr22:40742317 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346456C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001938068] |
Chr22:40346456 [GRCh38]
Chr22:40742460 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346483G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001963612] |
Chr22:40346483 [GRCh38]
Chr22:40742487 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346402G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001943686] |
Chr22:40346402 [GRCh38]
Chr22:40742406 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.187del (p.Gln63fs) |
deletion |
Adenylosuccinate lyase deficiency [RCV001923611] |
Chr22:40349864 [GRCh38]
Chr22:40745868 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001941106] |
Chr22:40361633 [GRCh38]
Chr22:40757637 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.11G>C (p.Gly4Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002038035]|Inborn genetic diseases [RCV004043243] |
Chr22:40346569 [GRCh38]
Chr22:40742573 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NC_000022.11:g.40345927G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002001120] |
Chr22:40345927 [GRCh38]
Chr22:40741931 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346482_40346491dup |
duplication |
Adenylosuccinate lyase deficiency [RCV001933546] |
Chr22:40346477..40346478 [GRCh38]
Chr22:40742481..40742482 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345507A>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001994914] |
Chr22:40345507 [GRCh38]
Chr22:40741511 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346323C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001918883] |
Chr22:40346323 [GRCh38]
Chr22:40742327 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346484_40346493del |
deletion |
Adenylosuccinate lyase deficiency [RCV001897792] |
Chr22:40346483..40346492 [GRCh38]
Chr22:40742487..40742496 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346065_40346067del |
deletion |
Adenylosuccinate lyase deficiency [RCV002013105] |
Chr22:40346065..40346067 [GRCh38]
Chr22:40742069..40742071 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345636_40345639del |
deletion |
Adenylosuccinate lyase deficiency [RCV002050710] |
Chr22:40345634..40345637 [GRCh38]
Chr22:40741638..40741641 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345997G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002014349] |
Chr22:40345997 [GRCh38]
Chr22:40742001 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346489C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001972934] |
Chr22:40346489 [GRCh38]
Chr22:40742493 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345931A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001867461] |
Chr22:40345931 [GRCh38]
Chr22:40741935 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.859A>G (p.Ile287Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001934126] |
Chr22:40361339 [GRCh38]
Chr22:40757343 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000022.11:g.40346377A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001953233] |
Chr22:40346377 [GRCh38]
Chr22:40742381 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1240G>T (p.Val414Phe) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001952002] |
Chr22:40364928 [GRCh38]
Chr22:40760932 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346417C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001920729] |
Chr22:40346417 [GRCh38]
Chr22:40742421 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345716C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001975798] |
Chr22:40345716 [GRCh38]
Chr22:40741720 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001990163] |
Chr22:40364319 [GRCh38]
Chr22:40760323 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.863G>C (p.Gly288Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001918127]|not provided [RCV003128825] |
Chr22:40361488 [GRCh38]
Chr22:40757492 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345683T>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001918146] |
Chr22:40345683 [GRCh38]
Chr22:40741687 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346280T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002027383] |
Chr22:40346280 [GRCh38]
Chr22:40742284 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345994G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001866379] |
Chr22:40345994 [GRCh38]
Chr22:40741998 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346371G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001992719] |
Chr22:40346371 [GRCh38]
Chr22:40742375 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346360G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001919554] |
Chr22:40346360 [GRCh38]
Chr22:40742364 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346433G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001902221] |
Chr22:40346433 [GRCh38]
Chr22:40742437 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345830G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001875498] |
Chr22:40345830 [GRCh38]
Chr22:40741834 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346438G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002028864] |
Chr22:40346438 [GRCh38]
Chr22:40742442 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345635dup |
duplication |
Adenylosuccinate lyase deficiency [RCV002013646] |
Chr22:40345633..40345634 [GRCh38]
Chr22:40741637..40741638 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.702-2A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002030152] |
Chr22:40360400 [GRCh38]
Chr22:40756404 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del) |
deletion |
Adenylosuccinate lyase deficiency [RCV002009819] |
Chr22:40360451..40360459 [GRCh38]
Chr22:40756455..40756463 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345873G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002011403] |
Chr22:40345873 [GRCh38]
Chr22:40741877 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346016G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001920279] |
Chr22:40346016 [GRCh38]
Chr22:40742020 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.146C>T (p.Ala49Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001917527] |
Chr22:40346704 [GRCh38]
Chr22:40742708 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345481C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001901336] |
Chr22:40345481 [GRCh38]
Chr22:40741485 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345805T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001976238] |
Chr22:40345805 [GRCh38]
Chr22:40741809 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346412G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001955323] |
Chr22:40346412 [GRCh38]
Chr22:40742416 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346449G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002051327] |
Chr22:40346449 [GRCh38]
Chr22:40742453 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346004G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001957502] |
Chr22:40346004 [GRCh38]
Chr22:40742008 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345971C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001958142] |
Chr22:40345971 [GRCh38]
Chr22:40741975 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345669C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001878450] |
Chr22:40345669 [GRCh38]
Chr22:40741673 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.129G>C (p.Trp43Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002034225] |
Chr22:40346687 [GRCh38]
Chr22:40742691 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.274G>A (p.Val92Met) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001884986] |
Chr22:40349952 [GRCh38]
Chr22:40745956 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.19C>G (p.His7Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001898042] |
Chr22:40346577 [GRCh38]
Chr22:40742581 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-32C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002017170] |
Chr22:40346527 [GRCh38]
Chr22:40742531 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345952G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002019479] |
Chr22:40345952 [GRCh38]
Chr22:40741956 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1369G>T (p.Val457Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002010606] |
Chr22:40366436 [GRCh38]
Chr22:40762440 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345686A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002017739] |
Chr22:40345686 [GRCh38]
Chr22:40741690 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345484A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001999475] |
Chr22:40345484 [GRCh38]
Chr22:40741488 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346339G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001867577] |
Chr22:40346339 [GRCh38]
Chr22:40742343 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346443C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001922773] |
Chr22:40346443 [GRCh38]
Chr22:40742447 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345803dup |
duplication |
Adenylosuccinate lyase deficiency [RCV002035137] |
Chr22:40345797..40345798 [GRCh38]
Chr22:40741801..40741802 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345621TTTA[2] |
microsatellite |
Adenylosuccinate lyase deficiency [RCV002047241] |
Chr22:40345619..40345622 [GRCh38]
Chr22:40741623..40741626 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.7G>A (p.Ala3Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001920953] |
Chr22:40346565 [GRCh38]
Chr22:40742569 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.151C>T (p.Gln51Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001956156] |
Chr22:40346709 [GRCh38]
Chr22:40742713 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001973296] |
Chr22:40366489 [GRCh38]
Chr22:40762493 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346474C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001932915] |
Chr22:40346474 [GRCh38]
Chr22:40742478 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.580C>T (p.Arg194Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002010959]|not provided [RCV004591694] |
Chr22:40358961 [GRCh38]
Chr22:40754965 [GRCh37]
Chr22:22q13.1 |
likely pathogenic|uncertain significance |
| NC_000022.11:g.40345958C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002049971] |
Chr22:40345958 [GRCh38]
Chr22:40741962 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346049T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001899822] |
Chr22:40346049 [GRCh38]
Chr22:40742053 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345634T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002016755] |
Chr22:40345634 [GRCh38]
Chr22:40741638 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346240T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001959424] |
Chr22:40346240 [GRCh38]
Chr22:40742244 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345993C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002050292] |
Chr22:40345993 [GRCh38]
Chr22:40741997 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346104C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001905632] |
Chr22:40346104 [GRCh38]
Chr22:40742108 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346377A>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002019828] |
Chr22:40346377 [GRCh38]
Chr22:40742381 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346456C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001955426] |
Chr22:40346456 [GRCh38]
Chr22:40742460 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345709C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001979799] |
Chr22:40345709 [GRCh38]
Chr22:40741713 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1093T>C (p.Tyr365His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001979832] |
Chr22:40363063 [GRCh38]
Chr22:40759067 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346408C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001923948] |
Chr22:40346408 [GRCh38]
Chr22:40742412 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346400C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001923961] |
Chr22:40346400 [GRCh38]
Chr22:40742404 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345885C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001931141] |
Chr22:40345885 [GRCh38]
Chr22:40741889 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345999G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002017383] |
Chr22:40345999 [GRCh38]
Chr22:40742003 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-18C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001981766] |
Chr22:40346541 [GRCh38]
Chr22:40742545 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.792+5G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001916584] |
Chr22:40360497 [GRCh38]
Chr22:40756501 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.224A>G (p.Lys75Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001997416]|Inborn genetic diseases [RCV004975986] |
Chr22:40349902 [GRCh38]
Chr22:40745906 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346418G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001939722] |
Chr22:40346418 [GRCh38]
Chr22:40742422 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345972A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001925013] |
Chr22:40345972 [GRCh38]
Chr22:40741976 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346381A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001886299] |
Chr22:40346381 [GRCh38]
Chr22:40742385 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346116C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001971806] |
Chr22:40346116 [GRCh38]
Chr22:40742120 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.430G>A (p.Asp144Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001919331] |
Chr22:40354275 [GRCh38]
Chr22:40750279 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346141T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001954637] |
Chr22:40346141 [GRCh38]
Chr22:40742145 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345969_40345970del |
deletion |
Adenylosuccinate lyase deficiency [RCV001994451] |
Chr22:40345969..40345970 [GRCh38]
Chr22:40741973..40741974 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001950883] |
Chr22:40364910 [GRCh38]
Chr22:40760914 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.11:g.40346374C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002011504] |
Chr22:40346374 [GRCh38]
Chr22:40742378 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346422G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001974105] |
Chr22:40346422 [GRCh38]
Chr22:40742426 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345597G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002049097] |
Chr22:40345597 [GRCh38]
Chr22:40741601 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346432C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001900239] |
Chr22:40346432 [GRCh38]
Chr22:40742436 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.274G>T (p.Val92Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001976019] |
Chr22:40349952 [GRCh38]
Chr22:40745956 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345544T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001995005] |
Chr22:40345544 [GRCh38]
Chr22:40741548 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345587A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002027468] |
Chr22:40345587 [GRCh38]
Chr22:40741591 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346089C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001954074] |
Chr22:40346089 [GRCh38]
Chr22:40742093 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345631T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001996201] |
Chr22:40345631 [GRCh38]
Chr22:40741635 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346022C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002051028] |
Chr22:40346022 [GRCh38]
Chr22:40742026 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.357+10T>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001922050] |
Chr22:40350045 [GRCh38]
Chr22:40746049 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346269G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001955209] |
Chr22:40346269 [GRCh38]
Chr22:40742273 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346324G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV001903330] |
Chr22:40346324 [GRCh38]
Chr22:40742328 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345502G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002026897] |
Chr22:40345502 [GRCh38]
Chr22:40741506 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.702-19C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002169732] |
Chr22:40360383 [GRCh38]
Chr22:40756387 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.655-11T>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002185599] |
Chr22:40359249 [GRCh38]
Chr22:40755253 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1191+8A>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002166393] |
Chr22:40364373 [GRCh38]
Chr22:40760377 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1269C>A (p.Leu423=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002188373] |
Chr22:40364957 [GRCh38]
Chr22:40760961 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.153+17T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002108168] |
Chr22:40346728 [GRCh38]
Chr22:40742732 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.153+19A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002111830] |
Chr22:40346730 [GRCh38]
Chr22:40742734 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.417C>T (p.Ile139=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002071105] |
Chr22:40354262 [GRCh38]
Chr22:40750266 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.403-7C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002107028] |
Chr22:40354241 [GRCh38]
Chr22:40750245 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346432C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002105032] |
Chr22:40346432 [GRCh38]
Chr22:40742436 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345588_40345589insAG |
insertion |
Adenylosuccinate lyase deficiency [RCV002204990] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
benign |
| NC_000022.11:g.40346253G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002074669] |
Chr22:40346253 [GRCh38]
Chr22:40742257 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1191+17G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002207690] |
Chr22:40364382 [GRCh38]
Chr22:40760386 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1011-18T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002207835] |
Chr22:40362963 [GRCh38]
Chr22:40758967 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1318T>C (p.Leu440=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002146302] |
Chr22:40365006 [GRCh38]
Chr22:40761010 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.15C>A (p.Gly5=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002075513] |
Chr22:40346573 [GRCh38]
Chr22:40742577 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1011-13A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002106145] |
Chr22:40362968 [GRCh38]
Chr22:40758972 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345889C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002124697] |
Chr22:40345889 [GRCh38]
Chr22:40741893 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.1102-16G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002094972] |
Chr22:40364260 [GRCh38]
Chr22:40760264 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.153+12C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002149725] |
Chr22:40346723 [GRCh38]
Chr22:40742727 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.462A>G (p.Thr154=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002169316] |
Chr22:40354307 [GRCh38]
Chr22:40750311 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.708C>T (p.Phe236=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002190158] |
Chr22:40360408 [GRCh38]
Chr22:40756412 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1101+10C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002196366] |
Chr22:40363081 [GRCh38]
Chr22:40759085 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.793-4C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002093682] |
Chr22:40361269 [GRCh38]
Chr22:40757273 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1191+10C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002192206] |
Chr22:40364375 [GRCh38]
Chr22:40760379 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.153+10C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002135010] |
Chr22:40346721 [GRCh38]
Chr22:40742725 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1041C>T (p.Thr347=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002095878] |
Chr22:40363011 [GRCh38]
Chr22:40759015 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345588_40345589insAAAAAAAGG |
insertion |
Adenylosuccinate lyase deficiency [RCV002215174] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.1092G>A (p.Val364=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002133705] |
Chr22:40363062 [GRCh38]
Chr22:40759066 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346058C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002194677] |
Chr22:40346058 [GRCh38]
Chr22:40742062 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.1102-15dup |
duplication |
Adenylosuccinate lyase deficiency [RCV002134102] |
Chr22:40364260..40364261 [GRCh38]
Chr22:40760264..40760265 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345988G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002087883] |
Chr22:40345988 [GRCh38]
Chr22:40741992 [GRCh37]
Chr22:22q13.1 |
benign |
| NC_000022.11:g.40346474CCCCG[3] |
microsatellite |
Adenylosuccinate lyase deficiency [RCV002114507] |
Chr22:40346469..40346470 [GRCh38]
Chr22:40742473..40742474 [GRCh37]
Chr22:22q13.1 |
benign |
| NC_000022.11:g.40345590G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002114644] |
Chr22:40345590 [GRCh38]
Chr22:40741594 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.863-18C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002214981] |
Chr22:40361470 [GRCh38]
Chr22:40757474 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.702-15T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002166841] |
Chr22:40360387 [GRCh38]
Chr22:40756391 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1102-17C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002178925] |
Chr22:40364259 [GRCh38]
Chr22:40760263 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1071C>T (p.Asn357=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002218541] |
Chr22:40363041 [GRCh38]
Chr22:40759045 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.-23C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002178175] |
Chr22:40346536 [GRCh38]
Chr22:40742540 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.255A>G (p.Arg85=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002142201] |
Chr22:40349933 [GRCh38]
Chr22:40745937 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.655-9C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002203411] |
Chr22:40359251 [GRCh38]
Chr22:40755255 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1128G>A (p.Glu376=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002181391] |
Chr22:40364302 [GRCh38]
Chr22:40760306 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1380C>T (p.Phe460=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002182218] |
Chr22:40366447 [GRCh38]
Chr22:40762451 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.402+18G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002202860] |
Chr22:40353135 [GRCh38]
Chr22:40749139 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346167C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002182427] |
Chr22:40346167 [GRCh38]
Chr22:40742171 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345597del |
deletion |
Adenylosuccinate lyase deficiency [RCV002117904] |
Chr22:40345589 [GRCh38]
Chr22:40741593 [GRCh37]
Chr22:22q13.1 |
benign |
| NM_000026.4(ADSL):c.702-7T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002141471] |
Chr22:40360395 [GRCh38]
Chr22:40756399 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.482+16A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002118702] |
Chr22:40354343 [GRCh38]
Chr22:40750347 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.862+13T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002118959] |
Chr22:40361355 [GRCh38]
Chr22:40757359 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.754C>T (p.Leu252=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002081361] |
Chr22:40360454 [GRCh38]
Chr22:40756458 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.789C>T (p.His263=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002163229] |
Chr22:40360489 [GRCh38]
Chr22:40756493 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1368+14A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003110461] |
Chr22:40365070 [GRCh38]
Chr22:40761074 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.10:g.(?_40741451)_(40859231_?)dup |
duplication |
not provided [RCV003109776] |
Chr22:40741451..40859231 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.621T>C (p.Ser207=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003115913] |
Chr22:40359002 [GRCh38]
Chr22:40755006 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.357+15_357+22dup |
duplication |
Adenylosuccinate lyase deficiency [RCV003112071] |
Chr22:40350049..40350050 [GRCh38]
Chr22:40746053..40746054 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.10:g.(?_40741451)_(40756516_?)del |
deletion |
Adenylosuccinate lyase deficiency [RCV003119092] |
Chr22:40741451..40756516 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.10:g.(?_35776672)_(42486826_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV003119093] |
Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2 |
uncertain significance |
| NM_000026.4(ADSL):c.449C>G (p.Ala150Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002290232] |
Chr22:40354294 [GRCh38]
Chr22:40750298 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.482+1G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003236504] |
Chr22:40354328 [GRCh38]
Chr22:40750332 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| GRCh37/hg19 22q13.1(chr22:40552119-40763622)x1 |
copy number loss |
not provided [RCV002293075] |
Chr22:40552119..40763622 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.254G>A (p.Arg85Gln) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003101442]|not provided [RCV002260774] |
Chr22:40349932 [GRCh38]
Chr22:40745936 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1 |
copy number loss |
not provided [RCV002473952] |
Chr22:40131240..41556564 [GRCh37]
Chr22:22q13.1-13.2 |
pathogenic |
| NM_000026.4(ADSL):c.386A>G (p.Asp129Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002303659] |
Chr22:40353101 [GRCh38]
Chr22:40749105 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.197A>C (p.Lys66Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002296318] |
Chr22:40349875 [GRCh38]
Chr22:40745879 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.574G>T (p.Asp192Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002295602] |
Chr22:40358955 [GRCh38]
Chr22:40754959 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1013G>T (p.Arg338Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002301506] |
Chr22:40362983 [GRCh38]
Chr22:40758987 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345571T>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002861391] |
Chr22:40345571 [GRCh38]
Chr22:40741575 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345856C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002816578] |
Chr22:40345856 [GRCh38]
Chr22:40741860 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345600A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003033447] |
Chr22:40345600 [GRCh38]
Chr22:40741604 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1431_1436del (p.Val478_Lys479del) |
deletion |
Adenylosuccinate lyase deficiency [RCV002816386] |
Chr22:40366494..40366499 [GRCh38]
Chr22:40762498..40762503 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.739G>A (p.Val247Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002728300] |
Chr22:40360439 [GRCh38]
Chr22:40756443 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002863402] |
Chr22:40363066 [GRCh38]
Chr22:40759070 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.527T>C (p.Ile176Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002971710] |
Chr22:40358908 [GRCh38]
Chr22:40754912 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-51G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003012144] |
Chr22:40346508 [GRCh38]
Chr22:40742512 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.304G>T (p.Ala102Ser) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002819527] |
Chr22:40349982 [GRCh38]
Chr22:40745986 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002842372] |
Chr22:40366521 [GRCh38]
Chr22:40762525 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345994G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003014276] |
Chr22:40345994 [GRCh38]
Chr22:40741998 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345917A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002685530] |
Chr22:40345917 [GRCh38]
Chr22:40741921 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345588_40345589insAAAAAAGG |
insertion |
Adenylosuccinate lyase deficiency [RCV002776127] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346287G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002908618] |
Chr22:40346287 [GRCh38]
Chr22:40742291 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345822G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003032346] |
Chr22:40345822 [GRCh38]
Chr22:40741826 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345924C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002861291] |
Chr22:40345924 [GRCh38]
Chr22:40741928 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.816G>A (p.Leu272=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003032737] |
Chr22:40361296 [GRCh38]
Chr22:40757300 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346243G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003073671] |
Chr22:40346243 [GRCh38]
Chr22:40742247 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346465G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003032421] |
Chr22:40346465 [GRCh38]
Chr22:40742469 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345658T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002842657] |
Chr22:40345658 [GRCh38]
Chr22:40741662 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.694T>G (p.Phe232Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002817675] |
Chr22:40359299 [GRCh38]
Chr22:40755303 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1102-14A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003013314] |
Chr22:40364262 [GRCh38]
Chr22:40760266 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.403-21_403-6del |
deletion |
Adenylosuccinate lyase deficiency [RCV002615858] |
Chr22:40354220..40354235 [GRCh38]
Chr22:40750224..40750239 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.618C>T (p.Ala206=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003016158] |
Chr22:40358999 [GRCh38]
Chr22:40755003 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3 |
copy number gain |
not provided [RCV002475709] |
Chr22:39768795..41946225 [GRCh37]
Chr22:22q13.1-13.2 |
uncertain significance |
| NM_000026.4(ADSL):c.414G>A (p.Val138=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002908334] |
Chr22:40354259 [GRCh38]
Chr22:40750263 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345597dup |
duplication |
Adenylosuccinate lyase deficiency [RCV002775831] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345594G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002621888] |
Chr22:40345594 [GRCh38]
Chr22:40741598 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345670G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002572104] |
Chr22:40345670 [GRCh38]
Chr22:40741674 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345926G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003054981] |
Chr22:40345926 [GRCh38]
Chr22:40741930 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345676G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002571152] |
Chr22:40345676 [GRCh38]
Chr22:40741680 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.403-5T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003003030] |
Chr22:40354243 [GRCh38]
Chr22:40750247 [GRCh37]
Chr22:22q13.1 |
likely benign|uncertain significance |
| NC_000022.11:g.40345588_40345589insAAAAAAAAGG |
insertion |
Adenylosuccinate lyase deficiency [RCV002592811] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1381T>C (p.Leu461=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003002923] |
Chr22:40366448 [GRCh38]
Chr22:40762452 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346037dup |
duplication |
Adenylosuccinate lyase deficiency [RCV002571999] |
Chr22:40346036..40346037 [GRCh38]
Chr22:40742040..40742041 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345954T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002622927] |
Chr22:40345954 [GRCh38]
Chr22:40741958 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-10C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002736719] |
Chr22:40346549 [GRCh38]
Chr22:40742553 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346052A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002914410] |
Chr22:40346052 [GRCh38]
Chr22:40742056 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346135T>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003077289] |
Chr22:40346135 [GRCh38]
Chr22:40742139 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346011A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003035465] |
Chr22:40346011 [GRCh38]
Chr22:40742015 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345714_40345716dup |
duplication |
Adenylosuccinate lyase deficiency [RCV003053865] |
Chr22:40345711..40345712 [GRCh38]
Chr22:40741715..40741716 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346477_40346491dup |
duplication |
Adenylosuccinate lyase deficiency [RCV002928001] |
Chr22:40346472..40346473 [GRCh38]
Chr22:40742476..40742477 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.248G>A (p.Arg83His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002637094] |
Chr22:40349926 [GRCh38]
Chr22:40745930 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.480C>T (p.Phe160=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002735833] |
Chr22:40354325 [GRCh38]
Chr22:40750329 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.403-1G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002847106] |
Chr22:40354247 [GRCh38]
Chr22:40750251 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NC_000022.11:g.40345910G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003037470] |
Chr22:40345910 [GRCh38]
Chr22:40741914 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.792+15C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002976622] |
Chr22:40360507 [GRCh38]
Chr22:40756511 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345588_40345589insAGG |
insertion |
Adenylosuccinate lyase deficiency [RCV002781176] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345651G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003054333] |
Chr22:40345651 [GRCh38]
Chr22:40741655 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346350C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002619427] |
Chr22:40346350 [GRCh38]
Chr22:40742354 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345505C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002591135] |
Chr22:40345505 [GRCh38]
Chr22:40741509 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.227T>C (p.Met76Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003035789] |
Chr22:40349905 [GRCh38]
Chr22:40745909 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346491del |
deletion |
Adenylosuccinate lyase deficiency [RCV002736308] |
Chr22:40346489 [GRCh38]
Chr22:40742493 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.62A>G (p.Tyr21Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002735822] |
Chr22:40346620 [GRCh38]
Chr22:40742624 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.482+16A>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002820420] |
Chr22:40354343 [GRCh38]
Chr22:40750347 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345601C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002760927] |
Chr22:40345601 [GRCh38]
Chr22:40741605 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346390G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002795426] |
Chr22:40346390 [GRCh38]
Chr22:40742394 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346117C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003038000] |
Chr22:40346117 [GRCh38]
Chr22:40742121 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.136C>T (p.Leu46=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002866524] |
Chr22:40346694 [GRCh38]
Chr22:40742698 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345723C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003002655] |
Chr22:40345723 [GRCh38]
Chr22:40741727 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1192-12C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002867791] |
Chr22:40364868 [GRCh38]
Chr22:40760872 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346236G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002866331] |
Chr22:40346236 [GRCh38]
Chr22:40742240 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346147T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002658631] |
Chr22:40346147 [GRCh38]
Chr22:40742151 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.701+7A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002847840] |
Chr22:40359313 [GRCh38]
Chr22:40755317 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.482+3A>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002846218] |
Chr22:40354330 [GRCh38]
Chr22:40750334 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.97A>C (p.Arg33=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002825133] |
Chr22:40346655 [GRCh38]
Chr22:40742659 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346304G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003055051] |
Chr22:40346304 [GRCh38]
Chr22:40742308 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346083C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002846264] |
Chr22:40346083 [GRCh38]
Chr22:40742087 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345827C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002621611] |
Chr22:40345827 [GRCh38]
Chr22:40741831 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1266C>T (p.Asp422=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002889191] |
Chr22:40364954 [GRCh38]
Chr22:40760958 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.153+7G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002979122] |
Chr22:40346718 [GRCh38]
Chr22:40742722 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345592G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003038232] |
Chr22:40345592 [GRCh38]
Chr22:40741596 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.780A>C (p.Ala260=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003054962] |
Chr22:40360480 [GRCh38]
Chr22:40756484 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346275G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002913488] |
Chr22:40346275 [GRCh38]
Chr22:40742279 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.587G>T (p.Arg196Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002766030] |
Chr22:40358968 [GRCh38]
Chr22:40754972 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.770G>A (p.Ser257Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002624530] |
Chr22:40360470 [GRCh38]
Chr22:40756474 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345847C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002853477] |
Chr22:40345847 [GRCh38]
Chr22:40741851 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.483-19G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002596184] |
Chr22:40358845 [GRCh38]
Chr22:40754849 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346117_40346119del |
deletion |
Adenylosuccinate lyase deficiency [RCV002786404] |
Chr22:40346117..40346119 [GRCh38]
Chr22:40742121..40742123 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.153+18G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002829935] |
Chr22:40346729 [GRCh38]
Chr22:40742733 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345596G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002575411] |
Chr22:40345596 [GRCh38]
Chr22:40741600 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1364dup (p.Gln456fs) |
duplication |
Adenylosuccinate lyase deficiency [RCV002851081] |
Chr22:40365051..40365052 [GRCh38]
Chr22:40761055..40761056 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003007416] |
Chr22:40365042 [GRCh38]
Chr22:40761046 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.639G>T (p.Glu213Asp) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003007372] |
Chr22:40359020 [GRCh38]
Chr22:40755024 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-15G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002931944] |
Chr22:40346544 [GRCh38]
Chr22:40742548 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346385C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003039816] |
Chr22:40346385 [GRCh38]
Chr22:40742389 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345877G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003059625] |
Chr22:40345877 [GRCh38]
Chr22:40741881 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346418G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002890124] |
Chr22:40346418 [GRCh38]
Chr22:40742422 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345588_40345589insAAAAAAAG |
insertion |
Adenylosuccinate lyase deficiency [RCV002574782] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345860G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002594809] |
Chr22:40345860 [GRCh38]
Chr22:40741864 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345588_40345589insAAG |
insertion |
Adenylosuccinate lyase deficiency [RCV002786280] |
Chr22:40345588..40345589 [GRCh38]
Chr22:40741592..40741593 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345606G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003040777] |
Chr22:40345606 [GRCh38]
Chr22:40741610 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345898_40345911del |
deletion |
Adenylosuccinate lyase deficiency [RCV002572872] |
Chr22:40345897..40345910 [GRCh38]
Chr22:40741901..40741914 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346117_40346120del |
deletion |
Adenylosuccinate lyase deficiency [RCV002572464] |
Chr22:40346117..40346120 [GRCh38]
Chr22:40742121..40742124 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.543G>A (p.Met181Ile) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002919148] |
Chr22:40358924 [GRCh38]
Chr22:40754928 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345514C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003059639] |
Chr22:40345514 [GRCh38]
Chr22:40741518 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345982A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003041775] |
Chr22:40345982 [GRCh38]
Chr22:40741986 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1005C>G (p.Ala335=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002890142] |
Chr22:40361630 [GRCh38]
Chr22:40757634 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1117A>G (p.Ile373Val) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002917630] |
Chr22:40364291 [GRCh38]
Chr22:40760295 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346457G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002875545] |
Chr22:40346457 [GRCh38]
Chr22:40742461 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.403-7del |
deletion |
Adenylosuccinate lyase deficiency [RCV003023913] |
Chr22:40354241 [GRCh38]
Chr22:40750245 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346436C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003057464] |
Chr22:40346436 [GRCh38]
Chr22:40742440 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345987C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003025687] |
Chr22:40345987 [GRCh38]
Chr22:40741991 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345978C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003041540] |
Chr22:40345978 [GRCh38]
Chr22:40741982 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1192-20A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002711453] |
Chr22:40364860 [GRCh38]
Chr22:40760864 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1371dup (p.Gln458fs) |
duplication |
Adenylosuccinate lyase deficiency [RCV002596576] |
Chr22:40366437..40366438 [GRCh38]
Chr22:40762441..40762442 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346398A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003084768] |
Chr22:40346398 [GRCh38]
Chr22:40742402 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.793-11A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002958496] |
Chr22:40361262 [GRCh38]
Chr22:40757266 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346434C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002938458] |
Chr22:40346434 [GRCh38]
Chr22:40742438 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345930C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002675947] |
Chr22:40345930 [GRCh38]
Chr22:40741934 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346420C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002651331] |
Chr22:40346420 [GRCh38]
Chr22:40742424 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.881A>G (p.Tyr294Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002718485] |
Chr22:40361506 [GRCh38]
Chr22:40757510 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.153+16C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002647762] |
Chr22:40346727 [GRCh38]
Chr22:40742731 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345636_40345637del |
deletion |
Adenylosuccinate lyase deficiency [RCV002807276] |
Chr22:40345635..40345636 [GRCh38]
Chr22:40741639..40741640 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.807dup (p.Arg270fs) |
duplication |
Adenylosuccinate lyase deficiency [RCV002675827] |
Chr22:40361286..40361287 [GRCh38]
Chr22:40757290..40757291 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.11:g.40346406T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002632845] |
Chr22:40346406 [GRCh38]
Chr22:40742410 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346453G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003089392] |
Chr22:40346453 [GRCh38]
Chr22:40742457 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345573T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002580505] |
Chr22:40345573 [GRCh38]
Chr22:40741577 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345709C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003031169] |
Chr22:40345709 [GRCh38]
Chr22:40741713 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346027G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002806060] |
Chr22:40346027 [GRCh38]
Chr22:40742031 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-21T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002746484] |
Chr22:40346538 [GRCh38]
Chr22:40742542 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346200C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003027996] |
Chr22:40346200 [GRCh38]
Chr22:40742204 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345513A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003045722] |
Chr22:40345513 [GRCh38]
Chr22:40741517 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.56C>T (p.Ser19Phe) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002717140] |
Chr22:40346614 [GRCh38]
Chr22:40742618 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.142G>A (p.Glu48Lys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002833608] |
Chr22:40346700 [GRCh38]
Chr22:40742704 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346482C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003060403] |
Chr22:40346482 [GRCh38]
Chr22:40742486 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346180C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002577205] |
Chr22:40346180 [GRCh38]
Chr22:40742184 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.278A>G (p.His93Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002834067] |
Chr22:40349956 [GRCh38]
Chr22:40745960 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1192-20A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002629024] |
Chr22:40364860 [GRCh38]
Chr22:40760864 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346019G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002716153] |
Chr22:40346019 [GRCh38]
Chr22:40742023 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.979T>C (p.Phe327Leu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002833454] |
Chr22:40361604 [GRCh38]
Chr22:40757608 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345505C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002646912] |
Chr22:40345505 [GRCh38]
Chr22:40741509 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.802G>C (p.Asp268His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003064660] |
Chr22:40361282 [GRCh38]
Chr22:40757286 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.403-16A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002599072] |
Chr22:40354232 [GRCh38]
Chr22:40750236 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.175G>A (p.Asp59Asn) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003048410] |
Chr22:40349853 [GRCh38]
Chr22:40745857 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1011-17G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002857136] |
Chr22:40362964 [GRCh38]
Chr22:40758968 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345873G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002631152] |
Chr22:40345873 [GRCh38]
Chr22:40741877 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002934029] |
Chr22:40363051 [GRCh38]
Chr22:40759055 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1286T>C (p.Val429Ala) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002579061] |
Chr22:40364974 [GRCh38]
Chr22:40760978 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345463del |
deletion |
Adenylosuccinate lyase deficiency [RCV003011555] |
Chr22:40345463 [GRCh38]
Chr22:40741467 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.572A>G (p.Asp191Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002833119] |
Chr22:40358953 [GRCh38]
Chr22:40754957 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.701+3A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003091874] |
Chr22:40359309 [GRCh38]
Chr22:40755313 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.954G>A (p.Pro318=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003087457] |
Chr22:40361579 [GRCh38]
Chr22:40757583 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346492T>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002653053] |
Chr22:40346492 [GRCh38]
Chr22:40742496 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346245T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002603342] |
Chr22:40346245 [GRCh38]
Chr22:40742249 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346473G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002942990] |
Chr22:40346473 [GRCh38]
Chr22:40742477 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345591G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002605678] |
Chr22:40345591 [GRCh38]
Chr22:40741595 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346161G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002943706] |
Chr22:40346161 [GRCh38]
Chr22:40742165 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345517T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002603871] |
Chr22:40345517 [GRCh38]
Chr22:40741521 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.701+1G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002726026] |
Chr22:40359307 [GRCh38]
Chr22:40755311 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.11:g.40345557A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002725730] |
Chr22:40345557 [GRCh38]
Chr22:40741561 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346424G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003071611] |
Chr22:40346424 [GRCh38]
Chr22:40742428 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.-37C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003070495] |
Chr22:40346522 [GRCh38]
Chr22:40742526 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.445C>T (p.Arg149Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003072072] |
Chr22:40354290 [GRCh38]
Chr22:40750294 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NC_000022.11:g.40346389G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002633468] |
Chr22:40346389 [GRCh38]
Chr22:40742393 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.328G>A (p.Ala110Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003051256] |
Chr22:40350006 [GRCh38]
Chr22:40746010 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1295A>G (p.Tyr432Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002635169] |
Chr22:40364983 [GRCh38]
Chr22:40760987 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40345663CT[1] |
microsatellite |
Adenylosuccinate lyase deficiency [RCV002942991] |
Chr22:40345663..40345664 [GRCh38]
Chr22:40741667..40741668 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NC_000022.11:g.40346472C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV002654890] |
Chr22:40346472 [GRCh38]
Chr22:40742476 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003072830] |
Chr22:40358892 [GRCh38]
Chr22:40754896 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.655-16G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003875039] |
Chr22:40359244 [GRCh38]
Chr22:40755248 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.633C>G (p.Leu211=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003880241] |
Chr22:40359014 [GRCh38]
Chr22:40755018 [GRCh37]
Chr22:22q13.1 |
likely benign |
| GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3 |
copy number gain |
Syndromic craniosynostosis [RCV003481509] |
Chr22:40545592..42096995 [GRCh37]
Chr22:22q13.1-13.2 |
likely pathogenic |
| NM_000026.4(ADSL):c.655-14C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603725] |
Chr22:40359246 [GRCh38]
Chr22:40755250 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.154-12C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603191] |
Chr22:40349820 [GRCh38]
Chr22:40745824 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.792+17T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604452] |
Chr22:40360509 [GRCh38]
Chr22:40756513 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.483-13T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003602628] |
Chr22:40358851 [GRCh38]
Chr22:40754855 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.885G>A (p.Lys295=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603200] |
Chr22:40361510 [GRCh38]
Chr22:40757514 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.793-13C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603223] |
Chr22:40361260 [GRCh38]
Chr22:40757264 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345998C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003602597] |
Chr22:40345998 [GRCh38]
Chr22:40742002 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.837G>A (p.Glu279=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603257] |
Chr22:40361317 [GRCh38]
Chr22:40757321 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1368G>A (p.Gln456=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003602643] |
Chr22:40365056 [GRCh38]
Chr22:40761060 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.831G>A (p.Glu277=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003602808] |
Chr22:40361311 [GRCh38]
Chr22:40757315 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.863-12T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603844] |
Chr22:40361476 [GRCh38]
Chr22:40757480 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.60C>T (p.Arg20=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604515] |
Chr22:40346618 [GRCh38]
Chr22:40742622 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1102-12C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604863] |
Chr22:40364264 [GRCh38]
Chr22:40760268 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.372del (p.Arg125fs) |
deletion |
Adenylosuccinate lyase deficiency [RCV003604977] |
Chr22:40353086 [GRCh38]
Chr22:40749090 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.1338T>G (p.Pro446=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604031] |
Chr22:40365026 [GRCh38]
Chr22:40761030 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.414G>C (p.Val138=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604568] |
Chr22:40354259 [GRCh38]
Chr22:40750263 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1062G>A (p.Thr354=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603920] |
Chr22:40363032 [GRCh38]
Chr22:40759036 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1152C>T (p.Asn384=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604001] |
Chr22:40364326 [GRCh38]
Chr22:40760330 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1369-19A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604055] |
Chr22:40366417 [GRCh38]
Chr22:40762421 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1080A>G (p.Glu360=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604298] |
Chr22:40363050 [GRCh38]
Chr22:40759054 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346450C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604816] |
Chr22:40346450 [GRCh38]
Chr22:40742454 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.793-19A>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003604931] |
Chr22:40361254 [GRCh38]
Chr22:40757258 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.701+16T>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003605043] |
Chr22:40359322 [GRCh38]
Chr22:40755326 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.225G>A (p.Lys75=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603413] |
Chr22:40349903 [GRCh38]
Chr22:40745907 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.555C>T (p.Asn185=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603423] |
Chr22:40358936 [GRCh38]
Chr22:40754940 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1010+1G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603277] |
Chr22:40361636 [GRCh38]
Chr22:40757640 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.483-14C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603537] |
Chr22:40358850 [GRCh38]
Chr22:40754854 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.990A>G (p.Thr330=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003850715] |
Chr22:40361615 [GRCh38]
Chr22:40757619 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1317G>A (p.Gln439=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003498332] |
Chr22:40365005 [GRCh38]
Chr22:40761009 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345622_40345627del |
deletion |
Adenylosuccinate lyase deficiency [RCV003499100] |
Chr22:40345621..40345626 [GRCh38]
Chr22:40741625..40741630 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.576C>A (p.Asp192Glu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003498039] |
Chr22:40358957 [GRCh38]
Chr22:40754961 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.862+9T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003498106] |
Chr22:40361351 [GRCh38]
Chr22:40757355 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.402+12G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003816055] |
Chr22:40353129 [GRCh38]
Chr22:40749133 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.393T>C (p.Leu131=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003498844] |
Chr22:40353108 [GRCh38]
Chr22:40749112 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1192-11T>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003499432] |
Chr22:40364869 [GRCh38]
Chr22:40760873 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40346188G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003499560] |
Chr22:40346188 [GRCh38]
Chr22:40742192 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1029G>A (p.Glu343=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003499374] |
Chr22:40362999 [GRCh38]
Chr22:40759003 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.568C>G (p.Arg190Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003499623] |
Chr22:40358949 [GRCh38]
Chr22:40754953 [GRCh37]
Chr22:22q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000026.4(ADSL):c.153+10C>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003499675] |
Chr22:40346721 [GRCh38]
Chr22:40742725 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1368+18C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003498534] |
Chr22:40365074 [GRCh38]
Chr22:40761078 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.282A>G (p.Thr94=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603310] |
Chr22:40349960 [GRCh38]
Chr22:40745964 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345895G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003603287] |
Chr22:40345895 [GRCh38]
Chr22:40741899 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1346dup (p.Thr450fs) |
duplication |
Adenylosuccinate lyase deficiency [RCV003498364] |
Chr22:40365031..40365032 [GRCh38]
Chr22:40761035..40761036 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.863-11dup |
duplication |
Adenylosuccinate lyase deficiency [RCV003499795] |
Chr22:40361470..40361471 [GRCh38]
Chr22:40757474..40757475 [GRCh37]
Chr22:22q13.1 |
benign |
| NC_000022.11:g.40345726G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003499358] |
Chr22:40345726 [GRCh38]
Chr22:40741730 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003499624] |
Chr22:40365003 [GRCh38]
Chr22:40761007 [GRCh37]
Chr22:22q13.1 |
pathogenic|likely pathogenic |
| NM_000026.4(ADSL):c.862+14A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003844801] |
Chr22:40361356 [GRCh38]
Chr22:40757360 [GRCh37]
Chr22:22q13.1 |
likely benign |
| GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1 |
copy number loss |
not specified [RCV003986188] |
Chr22:39935185..41752098 [GRCh37]
Chr22:22q13.1-13.2 |
uncertain significance |
| NM_000026.4(ADSL):c.39C>T (p.Tyr13=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003871725] |
Chr22:40346597 [GRCh38]
Chr22:40742601 [GRCh37]
Chr22:22q13.1 |
likely benign |
| GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 |
copy number gain |
not specified [RCV003986179] |
Chr22:39044105..45794212 [GRCh37]
Chr22:22q13.1-13.31 |
pathogenic |
| NM_000026.4(ADSL):c.908G>A (p.Arg303His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003856980] |
Chr22:40361533 [GRCh38]
Chr22:40757537 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.94G>T (p.Asp32Tyr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV003993599] |
Chr22:40346652 [GRCh38]
Chr22:40742656 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.57C>A (p.Ser19=) |
single nucleotide variant |
ADSL-related disorder [RCV003898969] |
Chr22:40346615 [GRCh38]
Chr22:40742619 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.10:g.(40757640_40758984)_(40761061_40762439)del |
deletion |
Adenylosuccinate lyase deficiency [RCV004587776] |
Chr22:40758984..40761061 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.10:g.(?_40754848)_(40762526_?)del |
deletion |
Adenylosuccinate lyase deficiency [RCV004582524] |
Chr22:40754848..40762526 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.10:g.(?_40749057)_(40756516_?)del |
deletion |
Adenylosuccinate lyase deficiency [RCV004582513] |
Chr22:40749057..40756516 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NC_000022.10:g.(?_39306081)_(41904073_?)dup |
duplication |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV004579118] |
Chr22:39306081..41904073 [GRCh37]
Chr22:22q13.1-13.2 |
uncertain significance |
| NM_000026.4(ADSL):c.874A>G (p.Met292Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004620080] |
Chr22:40361499 [GRCh38]
Chr22:40757503 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1040C>A (p.Thr347Asn) |
single nucleotide variant |
ADSL-related disorder [RCV004730479] |
Chr22:40363010 [GRCh38]
Chr22:40759014 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.947T>C (p.Met316Thr) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005195356] |
Chr22:40361572 [GRCh38]
Chr22:40757576 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1056G>A (p.Leu352=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005066580] |
Chr22:40363026 [GRCh38]
Chr22:40759030 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.357+7G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005172468] |
Chr22:40350042 [GRCh38]
Chr22:40746046 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.358-9C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005171606] |
Chr22:40353064 [GRCh38]
Chr22:40749068 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.402+8G>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005173186] |
Chr22:40353125 [GRCh38]
Chr22:40749129 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.507G>A (p.Gly169=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005193261] |
Chr22:40358888 [GRCh38]
Chr22:40754892 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.482+17C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005158224] |
Chr22:40354344 [GRCh38]
Chr22:40750348 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1191+12C>T |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005135796] |
Chr22:40364377 [GRCh38]
Chr22:40760381 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.636T>C (p.Phe212=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005159587] |
Chr22:40359017 [GRCh38]
Chr22:40755021 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1104A>C (p.Val368=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005082619] |
Chr22:40364278 [GRCh38]
Chr22:40760282 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1111C>A (p.Arg371=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005179262] |
Chr22:40364285 [GRCh38]
Chr22:40760289 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NC_000022.11:g.40345509A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005071570] |
Chr22:40345509 [GRCh38]
Chr22:40741513 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.126G>A (p.Leu42=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005071138] |
Chr22:40346684 [GRCh38]
Chr22:40742688 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.944T>G (p.Val315Gly) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005155574] |
Chr22:40361569 [GRCh38]
Chr22:40757573 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.132G>T (p.Leu44=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005135051] |
Chr22:40346690 [GRCh38]
Chr22:40742694 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.73G>A (p.Glu25Lys) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005244169] |
Chr22:40346631 [GRCh38]
Chr22:40742635 [GRCh37]
Chr22:22q13.1 |
likely pathogenic |
| NM_000026.4(ADSL):c.744T>C (p.Asp248=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005131851] |
Chr22:40360444 [GRCh38]
Chr22:40756448 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.402+15G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005178135] |
Chr22:40353132 [GRCh38]
Chr22:40749136 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.54C>T (p.Ala18=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005142230] |
Chr22:40346612 [GRCh38]
Chr22:40742616 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.73G>T (p.Glu25Ter) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005142231] |
Chr22:40346631 [GRCh38]
Chr22:40742635 [GRCh37]
Chr22:22q13.1 |
pathogenic |
| NM_000026.4(ADSL):c.954G>C (p.Pro318=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005192900] |
Chr22:40361579 [GRCh38]
Chr22:40757583 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1226A>G (p.Gln409Arg) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005138941] |
Chr22:40364914 [GRCh38]
Chr22:40760918 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.804C>T (p.Asp268=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005158393] |
Chr22:40361284 [GRCh38]
Chr22:40757288 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.153+15G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005193209] |
Chr22:40346726 [GRCh38]
Chr22:40742730 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.1101+10C>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005140243] |
Chr22:40363081 [GRCh38]
Chr22:40759085 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.86T>A (p.Val29Glu) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005136478] |
Chr22:40346644 [GRCh38]
Chr22:40742648 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.96C>T (p.Asp32=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005192580] |
Chr22:40346654 [GRCh38]
Chr22:40742658 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.30C>G (p.Pro10=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005130723] |
Chr22:40346588 [GRCh38]
Chr22:40742592 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.512G>A (p.Arg171His) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005205639] |
Chr22:40358893 [GRCh38]
Chr22:40754897 [GRCh37]
Chr22:22q13.1 |
uncertain significance |
| NM_000026.4(ADSL):c.1102-19A>G |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005201297] |
Chr22:40364257 [GRCh38]
Chr22:40760261 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.792+18G>C |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005123183] |
Chr22:40360510 [GRCh38]
Chr22:40756514 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.625C>T (p.Leu209=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005148941] |
Chr22:40359006 [GRCh38]
Chr22:40755010 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.701+17G>A |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005182998] |
Chr22:40359323 [GRCh38]
Chr22:40755327 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.474A>G (p.Thr158=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005124554] |
Chr22:40354319 [GRCh38]
Chr22:40750323 [GRCh37]
Chr22:22q13.1 |
likely benign |
| NM_000026.4(ADSL):c.750A>G (p.Glu250=) |
single nucleotide variant |
Adenylosuccinate lyase deficiency [RCV005204131] |
Chr22:40360450 [GRCh38]
Chr22:40756454 [GRCh37]
Chr22:22q13.1 |
likely benign |
