| GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2 |
pathogenic |
| GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3 |
pathogenic |
| GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 |
copy number gain |
See cases [RCV000052485] |
Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24 |
pathogenic |
| NM_025185.3(TANC2):c.2100C>T (p.Ser700=) |
single nucleotide variant |
Malignant melanoma [RCV000071596] |
Chr17:63355130 [GRCh38]
Chr17:61432491 [GRCh37]
Chr17:58786223 [NCBI36]
Chr17:17q23.3 |
not provided |
| GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1 |
pathogenic |
| GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1 |
copy number loss |
See cases [RCV000140458] |
Chr17:61631101..63219455 [GRCh38]
Chr17:59708462..61296816 [GRCh37]
Chr17:57063244..58650548 [NCBI36]
Chr17:17q23.2-23.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 |
copy number gain |
See cases [RCV000240364] |
Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3 |
pathogenic |
| GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 |
copy number gain |
See cases [RCV000447823] |
Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_001394998.1(TANC2):c.180C>A (p.Asp60Glu) |
single nucleotide variant |
not provided [RCV003318034] |
Chr17:63099215 [GRCh38]
Chr17:61176576 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.4855C>G (p.Pro1619Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003258596] |
Chr17:63420585 [GRCh38]
Chr17:61497946 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3753C>T (p.Gly1251=) |
single nucleotide variant |
not provided [RCV003312399] |
Chr17:63411674 [GRCh38]
Chr17:61489035 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4936G>A (p.Val1646Met) |
single nucleotide variant |
not provided [RCV003312400] |
Chr17:63420666 [GRCh38]
Chr17:61498027 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2107T>A (p.Ser703Thr) |
single nucleotide variant |
TANC2-related disorder [RCV003906694]|not specified [RCV003317958] |
Chr17:63354915 [GRCh38]
Chr17:61432276 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_001394998.1(TANC2):c.3689G>T (p.Gly1230Val) |
single nucleotide variant |
not provided [RCV000678329] |
Chr17:63411610 [GRCh38]
Chr17:61488971 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5597T>G (p.Phe1866Cys) |
single nucleotide variant |
not provided [RCV000678330] |
Chr17:63421327 [GRCh38]
Chr17:61498688 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_001394998.1(TANC2):c.3549C>T (p.Ser1183=) |
single nucleotide variant |
not provided [RCV001730234] |
Chr17:63406237 [GRCh38]
Chr17:61483598 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.5350C>T (p.Arg1784Ter) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001724763] |
Chr17:63421080 [GRCh38]
Chr17:61498441 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.1894A>G (p.Ile632Val) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001542290] |
Chr17:63351336 [GRCh38]
Chr17:61428697 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.564A>G (p.Glu188=) |
single nucleotide variant |
not provided [RCV003312398] |
Chr17:63194121 [GRCh38]
Chr17:61271482 [GRCh37]
Chr17:17q23.3 |
likely benign |
| GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3 |
copy number gain |
not provided [RCV000752158] |
Chr17:59597348..64886364 [GRCh37]
Chr17:17q23.2-24.2 |
pathogenic |
| GRCh37/hg19 17q23.3(chr17:61172859-61187529)x1 |
copy number loss |
not provided [RCV000752162] |
Chr17:61172859..61187529 [GRCh37]
Chr17:17q23.3 |
benign |
| GRCh37/hg19 17q23.3(chr17:61183640-61187529)x1 |
copy number loss |
not provided [RCV000752163] |
Chr17:61183640..61187529 [GRCh37]
Chr17:17q23.3 |
benign |
| GRCh37/hg19 17q23.3(chr17:61183640-61227617)x1 |
copy number loss |
not provided [RCV000752164] |
Chr17:61183640..61227617 [GRCh37]
Chr17:17q23.3 |
benign |
| GRCh37/hg19 17q23.3(chr17:61346707-61496471)x3 |
copy number gain |
not provided [RCV000752165] |
Chr17:61346707..61496471 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_001394998.1(TANC2):c.5683C>A (p.Pro1895Thr) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002290809]|not provided [RCV001992632] |
Chr17:63421413 [GRCh38]
Chr17:61498774 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1807+8T>C |
single nucleotide variant |
not provided [RCV000943802] |
Chr17:63340340 [GRCh38]
Chr17:61417701 [GRCh37]
Chr17:17q23.3 |
likely benign |
| GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) |
copy number gain |
not provided [RCV000767764] |
Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2 |
pathogenic |
| NM_001394998.1(TANC2):c.680T>G (p.Ile227Ser) |
single nucleotide variant |
not provided [RCV000963957] |
Chr17:63200868 [GRCh38]
Chr17:61278229 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_001394998.1(TANC2):c.6085C>G (p.Pro2029Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003267293] |
Chr17:63421815 [GRCh38]
Chr17:61499176 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17q23.3(chr17:61347958-61537402)x3 |
copy number gain |
not provided [RCV000849673] |
Chr17:61347958..61537402 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.804C>T (p.Arg268=) |
single nucleotide variant |
TANC2-related disorder [RCV003926210]|not provided [RCV000963516] |
Chr17:63237848 [GRCh38]
Chr17:61315209 [GRCh37]
Chr17:17q23.3 |
benign |
| GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 |
copy number gain |
not provided [RCV000845965] |
Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2 |
pathogenic |
| NM_001394998.1(TANC2):c.5099A>C (p.Asn1700Thr) |
single nucleotide variant |
not provided [RCV003313429] |
Chr17:63420829 [GRCh38]
Chr17:61498190 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4546C>T (p.Arg1516Trp) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004785143] |
Chr17:63420276 [GRCh38]
Chr17:61497637 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1685A>G (p.Tyr562Cys) |
single nucleotide variant |
TANC2-related neurodevelopmental disorders [RCV001249772] |
Chr17:63340210 [GRCh38]
Chr17:61417571 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2866G>A (p.Val956Ile) |
single nucleotide variant |
not provided [RCV003126369] |
Chr17:63389359 [GRCh38]
Chr17:61466720 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3866T>C (p.Val1289Ala) |
single nucleotide variant |
Autism spectrum disorder [RCV003127453] |
Chr17:63412098 [GRCh38]
Chr17:61489459 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1552G>T (p.Ala518Ser) |
single nucleotide variant |
not provided [RCV003231964] |
Chr17:63319067 [GRCh38]
Chr17:61396428 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3073G>A (p.Gly1025Arg) |
single nucleotide variant |
Autism spectrum disorder [RCV003127451] |
Chr17:63395764 [GRCh38]
Chr17:61473125 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4328G>A (p.Arg1443His) |
single nucleotide variant |
Autism spectrum disorder [RCV003127454] |
Chr17:63420058 [GRCh38]
Chr17:61497419 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5737A>G (p.Thr1913Ala) |
single nucleotide variant |
not provided [RCV003126408] |
Chr17:63421467 [GRCh38]
Chr17:61498828 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6145A>G (p.Arg2049Gly) |
single nucleotide variant |
not provided [RCV004787286] |
Chr17:63421875 [GRCh38]
Chr17:61499236 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4715C>T (p.Ala1572Val) |
single nucleotide variant |
not provided [RCV003106753] |
Chr17:63420445 [GRCh38]
Chr17:61497806 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.976T>C (p.Ser326Pro) |
single nucleotide variant |
not provided [RCV003318087] |
Chr17:63238020 [GRCh38]
Chr17:61315381 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.718G>T (p.Ala240Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003251176] |
Chr17:63200906 [GRCh38]
Chr17:61278267 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2856C>A (p.Tyr952Ter) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001724762] |
Chr17:63389349 [GRCh38]
Chr17:61466710 [GRCh37]
Chr17:17q23.3 |
pathogenic|likely pathogenic |
| NM_001394998.1(TANC2):c.3978C>T (p.Ile1326=) |
single nucleotide variant |
not provided [RCV000953045] |
Chr17:63413592 [GRCh38]
Chr17:61490953 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.2582+8A>G |
single nucleotide variant |
not provided [RCV000970026] |
Chr17:63355398 [GRCh38]
Chr17:61432759 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.2920A>G (p.Met974Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004669169]|TANC2-related disorder [RCV003950727]|not provided [RCV000910698] |
Chr17:63389413 [GRCh38]
Chr17:61466774 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.594C>T (p.Ile198=) |
single nucleotide variant |
not provided [RCV000891226] |
Chr17:63200782 [GRCh38]
Chr17:61278143 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.1572G>A (p.Ser524=) |
single nucleotide variant |
TANC2-related disorder [RCV003902897]|not provided [RCV000911696] |
Chr17:63319087 [GRCh38]
Chr17:61396448 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.1034-6T>C |
single nucleotide variant |
TANC2-related disorder [RCV003950743]|not provided [RCV000911695] |
Chr17:63267742 [GRCh38]
Chr17:61345103 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.5131G>A (p.Val1711Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002989896] |
Chr17:63420861 [GRCh38]
Chr17:61498222 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2360C>T (p.Ala787Val) |
single nucleotide variant |
not provided [RCV003230015] |
Chr17:63355168 [GRCh38]
Chr17:61432529 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.881G>T (p.Ser294Ile) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001563643] |
Chr17:63237925 [GRCh38]
Chr17:61315286 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.604A>G (p.Ile202Val) |
single nucleotide variant |
See cases [RCV002252879] |
Chr17:63200792 [GRCh38]
Chr17:61278153 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4033A>C (p.Lys1345Gln) |
single nucleotide variant |
not provided [RCV004819108] |
Chr17:63415540 [GRCh38]
Chr17:61492901 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3528_3536delinsAGCAGGGCCGCAGACAAGCAGGGCCGCAAGCAGACAA (p.Pro1177fs) |
indel |
not provided [RCV001254803] |
Chr17:63406216..63406224 [GRCh38]
Chr17:61483577..61483585 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.1441+1G>A AND INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES |
single nucleotide variant |
Autism spectrum disorder [RCV001261833]|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001182002]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004559915]|Neurodevelopmental disorder [RCV001261832] |
Chr17:63314670 [GRCh38]
Chr17:61392031 [GRCh37]
Chr17:17q23.3 |
pathogenic|likely pathogenic |
| NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter) AND INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES |
single nucleotide variant |
Autism spectrum disorder [RCV001261835]|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001182003] |
Chr17:63405208 [GRCh38]
Chr17:61482569 [GRCh37]
Chr17:17q23.3 |
pathogenic|likely pathogenic |
| NM_001394998.1(TANC2):c.4701del (p.Gln1567fs) AND INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES |
deletion |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001182005]|Intellectual disability [RCV001261841] |
Chr17:63420431 [GRCh38]
Chr17:61497792 [GRCh37]
Chr17:17q23.3 |
pathogenic|likely pathogenic |
| NM_001394998.1(TANC2):c.4657del (p.Arg1553fs) AND INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES |
deletion |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES [RCV001182006]|Neurodevelopmental disorder [RCV001261839] |
Chr17:63420386 [GRCh38]
Chr17:61497747 [GRCh37]
Chr17:17q23.3 |
pathogenic|likely pathogenic |
| NM_001394998.1(TANC2):c.769+1G>A AND INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES |
single nucleotide variant |
Autism spectrum disorder [RCV001261843]|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001182001] |
Chr17:63200958 [GRCh38]
Chr17:61278319 [GRCh37]
Chr17:17q23.3 |
pathogenic|likely pathogenic |
| NM_001394998.1(TANC2):c.4699C>T (p.Gln1567Ter) AND INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES |
single nucleotide variant |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001181999]|Neurodevelopmental disorder [RCV001261840] |
Chr17:63420429 [GRCh38]
Chr17:61497790 [GRCh37]
Chr17:17q23.3 |
pathogenic|likely pathogenic |
| NM_025185.3(TANC2):c.1589_1590delGA |
microsatellite |
Epilepsy [RCV001261834] |
Chr17:63351248..63351249 [GRCh38]
Chr17:61428609..61428610 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.3619G>T (p.Gly1207Ter) |
single nucleotide variant |
Intellectual disability [RCV001255337] |
Chr17:63411540 [GRCh38]
Chr17:61488901 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_001394998.1(TANC2):c.2486G>A (p.Arg829His) |
single nucleotide variant |
Autism spectrum disorder [RCV001261688] |
Chr17:63355294 [GRCh38]
Chr17:61432655 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3453G>C (p.Gln1151His) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004799403] |
Chr17:63405243 [GRCh38]
Chr17:61482604 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17q23.3(chr17:61167025-61353248)x1 |
copy number loss |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001254902] |
Chr17:61167025..61353248 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2500C>T (p.Arg834Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV001267477]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002471067]|Intellectual disability [RCV001261689] |
Chr17:63355308 [GRCh38]
Chr17:61432669 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2603C>T (p.Ala868Val) |
single nucleotide variant |
Schizophrenia [RCV001261690] |
Chr17:63379738 [GRCh38]
Chr17:61457099 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3765+1G>T |
single nucleotide variant |
Intellectual disability [RCV001261846] |
Chr17:63411687 [GRCh38]
Chr17:61489048 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.4965_4968del (p.Gln1656fs) |
microsatellite |
Neurodevelopmental disorder [RCV001261687] |
Chr17:63420690..63420693 [GRCh38]
Chr17:61498051..61498054 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.5318A>G (p.His1773Arg) |
single nucleotide variant |
Autism spectrum disorder [RCV001261692] |
Chr17:63421048 [GRCh38]
Chr17:61498409 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2571_2572dup (p.Cys858fs) |
microsatellite |
Developmental delay [RCV001261845] |
Chr17:63355375..63355376 [GRCh38]
Chr17:61432736..61432737 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.4080del (p.Glu1361fs) |
deletion |
Epilepsy [RCV001261836] |
Chr17:63415587 [GRCh38]
Chr17:61492948 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.6029T>C (p.Leu2010Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV001265800] |
Chr17:63421759 [GRCh38]
Chr17:61499120 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5755A>G (p.Ser1919Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV001265841] |
Chr17:63421485 [GRCh38]
Chr17:61498846 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln) |
single nucleotide variant |
Autism spectrum disorder [RCV001261691] |
Chr17:63395795 [GRCh38]
Chr17:61473156 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4268+2T>G |
single nucleotide variant |
Neurodevelopmental disorder [RCV001261837] |
Chr17:63418409 [GRCh38]
Chr17:61495770 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.4450C>T (p.Gln1484Ter) |
single nucleotide variant |
Intellectual Disability with multiple congenital anomalies [RCV001261838] |
Chr17:63420180 [GRCh38]
Chr17:61497541 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.5571_5596dup (p.Phe1866delinsCysIleProLysValTer) |
duplication |
Developmental delay [RCV001261842] |
Chr17:63421297..63421298 [GRCh38]
Chr17:61498658..61498659 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.3003del (p.Ala1002fs) |
deletion |
Neurodevelopmental disorder [RCV001261844] |
Chr17:63389496 [GRCh38]
Chr17:61466857 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.4891C>T (p.Pro1631Ser) |
single nucleotide variant |
not provided [RCV001531441] |
Chr17:63420621 [GRCh38]
Chr17:61497982 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.864G>A (p.Trp288Ter) |
single nucleotide variant |
not provided [RCV001755504] |
Chr17:63237908 [GRCh38]
Chr17:61315269 [GRCh37]
Chr17:17q23.3 |
pathogenic|uncertain significance |
| NM_001394998.1(TANC2):c.5226G>C (p.Leu1742Phe) |
single nucleotide variant |
not provided [RCV004798394] |
Chr17:63420956 [GRCh38]
Chr17:61498317 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1580T>C (p.Val527Ala) |
single nucleotide variant |
not provided [RCV001727046] |
Chr17:63340105 [GRCh38]
Chr17:61417466 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5340T>A (p.Asp1780Glu) |
single nucleotide variant |
not provided [RCV001727050] |
Chr17:63421070 [GRCh38]
Chr17:61498431 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3466-1G>A |
single nucleotide variant |
not provided [RCV001727048] |
Chr17:63406153 [GRCh38]
Chr17:61483514 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.5220C>T (p.Ser1740=) |
single nucleotide variant |
not provided [RCV001727049] |
Chr17:63420950 [GRCh38]
Chr17:61498311 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1592A>G (p.Tyr531Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002539765]|not provided [RCV001727047] |
Chr17:63340117 [GRCh38]
Chr17:61417478 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5596T>G (p.Phe1866Val) |
single nucleotide variant |
Autism spectrum disorder [RCV003127455] |
Chr17:63421326 [GRCh38]
Chr17:61498687 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2951A>G (p.Asn984Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004040813]|See cases [RCV001784147] |
Chr17:63389444 [GRCh38]
Chr17:61466805 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3765+2T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002541214]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001783845] |
Chr17:63411688 [GRCh38]
Chr17:61489049 [GRCh37]
Chr17:17q23.3 |
likely pathogenic|uncertain significance |
| NM_001394998.1(TANC2):c.2735G>T (p.Gly912Val) |
single nucleotide variant |
not provided [RCV001757494] |
Chr17:63388678 [GRCh38]
Chr17:61466039 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1998C>G (p.Phe666Leu) |
single nucleotide variant |
TANC2-related disorder [RCV003976211]|not provided [RCV001816210] |
Chr17:63354806 [GRCh38]
Chr17:61432167 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1048_1060dup (p.Leu354fs) |
duplication |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001785326] |
Chr17:63267759..63267760 [GRCh38]
Chr17:61345120..61345121 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_001394998.1(TANC2):c.2377A>C (p.Thr793Pro) |
single nucleotide variant |
not provided [RCV001757521] |
Chr17:63355185 [GRCh38]
Chr17:61432546 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.184G>A (p.Ala62Thr) |
single nucleotide variant |
not provided [RCV001815834] |
Chr17:63099219 [GRCh38]
Chr17:61176580 [GRCh37]
Chr17:17q23.2 |
likely benign|uncertain significance |
| NM_001394998.1(TANC2):c.5085G>T (p.Gln1695His) |
single nucleotide variant |
not provided [RCV001815835] |
Chr17:63420815 [GRCh38]
Chr17:61498176 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3290G>A (p.Arg1097Gln) |
single nucleotide variant |
not provided [RCV001757758] |
Chr17:63398873 [GRCh38]
Chr17:61476234 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1171C>T (p.Pro391Ser) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001825036]|not provided [RCV001776726] |
Chr17:63314399 [GRCh38]
Chr17:61391760 [GRCh37]
Chr17:17q23.3 |
uncertain significance|not provided |
| NM_001394998.1(TANC2):c.6211G>T (p.Glu2071Ter) |
single nucleotide variant |
not provided [RCV001757433] |
Chr17:63421941 [GRCh38]
Chr17:61499302 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1613A>G (p.Tyr538Cys) |
single nucleotide variant |
not provided [RCV001757480] |
Chr17:63340138 [GRCh38]
Chr17:61417499 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.94C>T (p.Arg32Ter) |
single nucleotide variant |
not provided [RCV001757485] |
Chr17:63073969 [GRCh38]
Chr17:61151330 [GRCh37]
Chr17:17q23.2 |
pathogenic|uncertain significance |
| NM_001394998.1(TANC2):c.772A>G (p.Thr258Ala) |
single nucleotide variant |
not provided [RCV001759014] |
Chr17:63237816 [GRCh38]
Chr17:61315177 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5312G>T (p.Cys1771Phe) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001814653] |
Chr17:63421042 [GRCh38]
Chr17:61498403 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.146T>C (p.Ile49Thr) |
single nucleotide variant |
not provided [RCV001815833] |
Chr17:63099181 [GRCh38]
Chr17:61176542 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.5299G>T (p.Ala1767Ser) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004798130] |
Chr17:63421029 [GRCh38]
Chr17:61498390 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5642C>T (p.Pro1881Leu) |
single nucleotide variant |
not provided [RCV004809177] |
Chr17:63421372 [GRCh38]
Chr17:61498733 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4703C>T (p.Ser1568Phe) |
single nucleotide variant |
not provided [RCV001806866] |
Chr17:63420433 [GRCh38]
Chr17:61497794 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2662_2665dup (p.His889fs) |
duplication |
not provided [RCV001837662] |
Chr17:63379796..63379797 [GRCh38]
Chr17:61457157..61457158 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.91del (p.Asp31fs) |
deletion |
not provided [RCV001871363] |
Chr17:63073965 [GRCh38]
Chr17:61151326 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001394998.1(TANC2):c.1844T>C (p.Ile615Thr) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001839225]|TANC2-related disorder [RCV003407832] |
Chr17:63351286 [GRCh38]
Chr17:61428647 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1004A>G (p.Tyr335Cys) |
single nucleotide variant |
not provided [RCV002025176] |
Chr17:63238048 [GRCh38]
Chr17:61315409 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3727C>G (p.Pro1243Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002545282]|not provided [RCV002034823] |
Chr17:63411648 [GRCh38]
Chr17:61489009 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5612A>G (p.Asn1871Ser) |
single nucleotide variant |
not provided [RCV001985152] |
Chr17:63421342 [GRCh38]
Chr17:61498703 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4632del (p.Gly1545fs) |
deletion |
not provided [RCV001939530] |
Chr17:63420361 [GRCh38]
Chr17:61497722 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_001394998.1(TANC2):c.5028T>C (p.Pro1676=) |
single nucleotide variant |
TANC2-related disorder [RCV003926325]|not provided [RCV002211416] |
Chr17:63420758 [GRCh38]
Chr17:61498119 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.3805G>A (p.Val1269Ile) |
single nucleotide variant |
not provided [RCV002211415] |
Chr17:63412037 [GRCh38]
Chr17:61489398 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1086T>C (p.His362=) |
single nucleotide variant |
not provided [RCV002211414] |
Chr17:63267800 [GRCh38]
Chr17:61345161 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3183G>T (p.Lys1061Asn) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002245305] |
Chr17:63395874 [GRCh38]
Chr17:61473235 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5603C>T (p.Pro1868Leu) |
single nucleotide variant |
not provided [RCV003110004] |
Chr17:63421333 [GRCh38]
Chr17:61498694 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2768C>G (p.Ser923Cys) |
single nucleotide variant |
not provided [RCV004784651] |
Chr17:63388711 [GRCh38]
Chr17:61466072 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1125C>G (p.Ser375Arg) |
single nucleotide variant |
not provided [RCV003115972] |
Chr17:63267839 [GRCh38]
Chr17:61345200 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5585T>A (p.Val1862Glu) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003120173] |
Chr17:63421315 [GRCh38]
Chr17:61498676 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4204C>A (p.Leu1402Met) |
single nucleotide variant |
not provided [RCV004779547] |
Chr17:63418343 [GRCh38]
Chr17:61495704 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1994C>G (p.Pro665Arg) |
single nucleotide variant |
not provided [RCV004786167] |
Chr17:63354802 [GRCh38]
Chr17:61432163 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.674C>T (p.Pro225Leu) |
single nucleotide variant |
not provided [RCV003149170] |
Chr17:63200862 [GRCh38]
Chr17:61278223 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.179_184del (p.Asp60_Tyr61del) |
deletion |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004790145] |
Chr17:63099213..63099218 [GRCh38]
Chr17:61176574..61176579 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.5923T>G (p.Phe1975Val) |
single nucleotide variant |
not provided [RCV003128902] |
Chr17:63421653 [GRCh38]
Chr17:61499014 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1834A>G (p.Ile612Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004673652]|See cases [RCV002252925]|not provided [RCV003156372] |
Chr17:63351276 [GRCh38]
Chr17:61428637 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.206G>C (p.Ser69Thr) |
single nucleotide variant |
See cases [RCV002252980] |
Chr17:63099241 [GRCh38]
Chr17:61176602 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.213_228dup (p.Ile77fs) |
duplication |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002250992] |
Chr17:63099245..63099246 [GRCh38]
Chr17:61176606..61176607 [GRCh37]
Chr17:17q23.2 |
likely pathogenic|uncertain significance |
| NM_001394998.1(TANC2):c.3656A>G (p.His1219Arg) |
single nucleotide variant |
not provided [RCV003230066] |
Chr17:63411577 [GRCh38]
Chr17:61488938 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1687C>T (p.Arg563Trp) |
single nucleotide variant |
See cases [RCV003232926] |
Chr17:63340212 [GRCh38]
Chr17:61417573 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2890T>C (p.Cys964Arg) |
single nucleotide variant |
Neurodevelopmental delay [RCV002274431] |
Chr17:63389383 [GRCh38]
Chr17:61466744 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2588G>C (p.Gly863Ala) |
single nucleotide variant |
not provided [RCV002274763] |
Chr17:63379723 [GRCh38]
Chr17:61457084 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5247_5249del (p.Gly1750del) |
deletion |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002275592] |
Chr17:63420975..63420977 [GRCh38]
Chr17:61498336..61498338 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3331+5C>T |
single nucleotide variant |
not provided [RCV002276049] |
Chr17:63398919 [GRCh38]
Chr17:61476280 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.98G>C (p.Arg33Thr) |
single nucleotide variant |
not provided [RCV002279068] |
Chr17:63073973 [GRCh38]
Chr17:61151334 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.*3034T>C |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002266601] |
Chr17:63424989 [GRCh38]
Chr17:61502350 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5519G>A (p.Ser1840Asn) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002273146] |
Chr17:63421249 [GRCh38]
Chr17:61498610 [GRCh37]
Chr17:17q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001394998.1(TANC2):c.2767T>C (p.Ser923Pro) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002273307] |
Chr17:63388710 [GRCh38]
Chr17:61466071 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| NM_001394998.1(TANC2):c.323-24667_323-24660del |
deletion |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002266880] |
Chr17:63126601..63126608 [GRCh38]
Chr17:61203962..61203969 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1553C>T (p.Ala518Val) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002288281] |
Chr17:63319068 [GRCh38]
Chr17:61396429 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4452G>T (p.Gln1484His) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002288323] |
Chr17:63420182 [GRCh38]
Chr17:61497543 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5594G>A (p.Arg1865His) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002290189] |
Chr17:63421324 [GRCh38]
Chr17:61498685 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1268A>T (p.His423Leu) |
single nucleotide variant |
not provided [RCV003237082] |
Chr17:63314496 [GRCh38]
Chr17:61391857 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4442C>T (p.Pro1481Leu) |
single nucleotide variant |
not provided [RCV002263107] |
Chr17:63420172 [GRCh38]
Chr17:61497533 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.178G>A (p.Asp60Asn) |
single nucleotide variant |
not provided [RCV002291928] |
Chr17:63099213 [GRCh38]
Chr17:61176574 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.6067A>G (p.Ser2023Gly) |
single nucleotide variant |
not provided [RCV002263108] |
Chr17:63421797 [GRCh38]
Chr17:61499158 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2538C>T (p.Ile846=) |
single nucleotide variant |
not provided [RCV002292960] |
Chr17:63355346 [GRCh38]
Chr17:61432707 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4880G>A (p.Arg1627Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003256804] |
Chr17:63420610 [GRCh38]
Chr17:61497971 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.143G>A (p.Gly48Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003286026] |
Chr17:63099178 [GRCh38]
Chr17:61176539 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.569A>G (p.Gln190Arg) |
single nucleotide variant |
not provided [RCV002469785] |
Chr17:63194126 [GRCh38]
Chr17:61271487 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2389A>G (p.Ile797Val) |
single nucleotide variant |
not provided [RCV002467020] |
Chr17:63355197 [GRCh38]
Chr17:61432558 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4547G>A (p.Arg1516Gln) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002465049] |
Chr17:63420277 [GRCh38]
Chr17:61497638 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4795C>T (p.Arg1599Cys) |
single nucleotide variant |
not provided [RCV004588727] |
Chr17:63420525 [GRCh38]
Chr17:61497886 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3044G>A (p.Arg1015Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002683037] |
Chr17:63389537 [GRCh38]
Chr17:61466898 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4353A>C (p.Arg1451Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002901759] |
Chr17:63420083 [GRCh38]
Chr17:61497444 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3075del (p.Gln1026fs) |
deletion |
not provided [RCV002511877] |
Chr17:63395764 [GRCh38]
Chr17:61473125 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_001394998.1(TANC2):c.547G>A (p.Asp183Asn) |
single nucleotide variant |
not provided [RCV002970607] |
Chr17:63194104 [GRCh38]
Chr17:61271465 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1222A>C (p.Ser408Arg) |
single nucleotide variant |
not provided [RCV002511226] |
Chr17:63314450 [GRCh38]
Chr17:61391811 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1034-3C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002752187] |
Chr17:63267745 [GRCh38]
Chr17:61345106 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3575T>C (p.Phe1192Ser) |
single nucleotide variant |
not provided [RCV002461715] |
Chr17:63406263 [GRCh38]
Chr17:61483624 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4522T>C (p.Ser1508Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002734376] |
Chr17:63420252 [GRCh38]
Chr17:61497613 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.929C>G (p.Thr310Ser) |
single nucleotide variant |
not provided [RCV002616822] |
Chr17:63237973 [GRCh38]
Chr17:61315334 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3608T>C (p.Met1203Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004064296]|not provided [RCV002511878] |
Chr17:63411529 [GRCh38]
Chr17:61488890 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4894G>A (p.Ala1632Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002689301] |
Chr17:63420624 [GRCh38]
Chr17:61497985 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.994A>G (p.Ile332Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002686535] |
Chr17:63238038 [GRCh38]
Chr17:61315399 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4013T>A (p.Phe1338Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002777253] |
Chr17:63413627 [GRCh38]
Chr17:61490988 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5242A>G (p.Ile1748Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002946908]|not provided [RCV004598250] |
Chr17:63420972 [GRCh38]
Chr17:61498333 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2330G>A (p.Arg777Gln) |
single nucleotide variant |
not provided [RCV002461644] |
Chr17:63355138 [GRCh38]
Chr17:61432499 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5377G>A (p.Val1793Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002945380] |
Chr17:63421107 [GRCh38]
Chr17:61498468 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.53A>G (p.Lys18Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002688178] |
Chr17:63009612 [GRCh38]
Chr17:61086973 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.1901C>T (p.Ser634Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002689300] |
Chr17:63351343 [GRCh38]
Chr17:61428704 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.118C>T (p.Arg40Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002661820] |
Chr17:63073993 [GRCh38]
Chr17:61151354 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.163T>C (p.Cys55Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002708071] |
Chr17:63099198 [GRCh38]
Chr17:61176559 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.3259C>G (p.Leu1087Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002762213]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003147834] |
Chr17:63398842 [GRCh38]
Chr17:61476203 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.160G>A (p.Asp54Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002660126]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003492806]|not provided [RCV003420406] |
Chr17:63099195 [GRCh38]
Chr17:61176556 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.3457C>A (p.His1153Asn) |
single nucleotide variant |
not provided [RCV002800383] |
Chr17:63405247 [GRCh38]
Chr17:61482608 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5495C>T (p.Ser1832Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002693235] |
Chr17:63421225 [GRCh38]
Chr17:61498586 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6044G>C (p.Arg2015Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002707992] |
Chr17:63421774 [GRCh38]
Chr17:61499135 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4601G>A (p.Arg1534Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003000805]|not provided [RCV003427660] |
Chr17:63420331 [GRCh38]
Chr17:61497692 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3559C>G (p.Leu1187Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003000577] |
Chr17:63406247 [GRCh38]
Chr17:61483608 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.893G>C (p.Cys298Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002926560] |
Chr17:63237937 [GRCh38]
Chr17:61315298 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1442-4C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002758278] |
Chr17:63318953 [GRCh38]
Chr17:61396314 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.885G>T (p.Met295Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002910251] |
Chr17:63237929 [GRCh38]
Chr17:61315290 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2043C>A (p.Asp681Glu) |
single nucleotide variant |
not provided [RCV002510022] |
Chr17:63354851 [GRCh38]
Chr17:61432212 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2755A>G (p.Thr919Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002950446] |
Chr17:63388698 [GRCh38]
Chr17:61466059 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5080G>A (p.Ala1694Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002822708] |
Chr17:63420810 [GRCh38]
Chr17:61498171 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5204T>C (p.Ile1735Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002785030]|not provided [RCV003326659] |
Chr17:63420934 [GRCh38]
Chr17:61498295 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1804A>G (p.Lys602Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002844508] |
Chr17:63340329 [GRCh38]
Chr17:61417690 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1139G>A (p.Arg380His) |
single nucleotide variant |
Inborn genetic diseases [RCV002691857] |
Chr17:63267853 [GRCh38]
Chr17:61345214 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2618G>A (p.Arg873His) |
single nucleotide variant |
Inborn genetic diseases [RCV002798929] |
Chr17:63379753 [GRCh38]
Chr17:61457114 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3886G>A (p.Gly1296Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002707331] |
Chr17:63412118 [GRCh38]
Chr17:61489479 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.538C>G (p.Gln180Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002954669] |
Chr17:63194095 [GRCh38]
Chr17:61271456 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4786G>A (p.Gly1596Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002697640] |
Chr17:63420516 [GRCh38]
Chr17:61497877 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5186A>G (p.Gln1729Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002916944] |
Chr17:63420916 [GRCh38]
Chr17:61498277 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.824G>A (p.Ser275Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002872965] |
Chr17:63237868 [GRCh38]
Chr17:61315229 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1009A>C (p.Met337Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002874688] |
Chr17:63238053 [GRCh38]
Chr17:61315414 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4868dup (p.Gln1625fs) |
duplication |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002509002] |
Chr17:63420596..63420597 [GRCh38]
Chr17:61497957..61497958 [GRCh37]
Chr17:17q23.3 |
not provided |
| NM_001394998.1(TANC2):c.4048C>T (p.Arg1350Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002849803] |
Chr17:63415555 [GRCh38]
Chr17:61492916 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5426A>G (p.Tyr1809Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002930637]|not provided [RCV003222474] |
Chr17:63421156 [GRCh38]
Chr17:61498517 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4379AGCAGCCAC[1] (p.1460QQP[1]) |
microsatellite |
Inborn genetic diseases [RCV002763950] |
Chr17:63420108..63420116 [GRCh38]
Chr17:61497469..61497477 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4357G>A (p.Glu1453Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002743931]|TANC2-related disorder [RCV003954033]|not provided [RCV003427678] |
Chr17:63420087 [GRCh38]
Chr17:61497448 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2713G>A (p.Val905Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002665000] |
Chr17:63388656 [GRCh38]
Chr17:61466017 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5710T>C (p.Cys1904Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002849953] |
Chr17:63421440 [GRCh38]
Chr17:61498801 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3698C>T (p.Thr1233Ile) |
single nucleotide variant |
not provided [RCV002575846] |
Chr17:63411619 [GRCh38]
Chr17:61488980 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5254G>C (p.Val1752Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002767648] |
Chr17:63420984 [GRCh38]
Chr17:61498345 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1435C>T (p.Pro479Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002939545] |
Chr17:63314663 [GRCh38]
Chr17:61392024 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4943A>C (p.Tyr1648Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002718805] |
Chr17:63420673 [GRCh38]
Chr17:61498034 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2993A>G (p.Tyr998Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002813704] |
Chr17:63389486 [GRCh38]
Chr17:61466847 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1763C>T (p.Ser588Phe) |
single nucleotide variant |
not provided [RCV002746549] |
Chr17:63340288 [GRCh38]
Chr17:61417649 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1481C>T (p.Pro494Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002897149] |
Chr17:63318996 [GRCh38]
Chr17:61396357 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2789G>A (p.Arg930Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002921514]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004820937]|not provided [RCV003420473] |
Chr17:63388732 [GRCh38]
Chr17:61466093 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| NM_001394998.1(TANC2):c.4480A>G (p.Ile1494Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002898113] |
Chr17:63420210 [GRCh38]
Chr17:61497571 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5243T>C (p.Ile1748Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002649116] |
Chr17:63420973 [GRCh38]
Chr17:61498334 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4400C>T (p.Pro1467Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002965616] |
Chr17:63420130 [GRCh38]
Chr17:61497491 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4025G>A (p.Gly1342Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002668599] |
Chr17:63415532 [GRCh38]
Chr17:61492893 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1039A>G (p.Ser347Gly) |
single nucleotide variant |
not provided [RCV002791865] |
Chr17:63267753 [GRCh38]
Chr17:61345114 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4615A>G (p.Ile1539Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002714370] |
Chr17:63420345 [GRCh38]
Chr17:61497706 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3857C>T (p.Thr1286Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002719931] |
Chr17:63412089 [GRCh38]
Chr17:61489450 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1882T>C (p.Tyr628His) |
single nucleotide variant |
Inborn genetic diseases [RCV002939342] |
Chr17:63351324 [GRCh38]
Chr17:61428685 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.158G>A (p.Ser53Asn) |
single nucleotide variant |
not provided [RCV003149295] |
Chr17:63099193 [GRCh38]
Chr17:61176554 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.2096A>G (p.Gln699Arg) |
single nucleotide variant |
not provided [RCV003149348] |
Chr17:63354904 [GRCh38]
Chr17:61432265 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4912T>C (p.Tyr1638His) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003148432] |
Chr17:63420642 [GRCh38]
Chr17:61498003 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1575+4C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002722853] |
Chr17:63319094 [GRCh38]
Chr17:61396455 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1604A>T (p.Asp535Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002656229] |
Chr17:63340129 [GRCh38]
Chr17:61417490 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3373C>T (p.Arg1125Cys) |
single nucleotide variant |
not provided [RCV003154338] |
Chr17:63405163 [GRCh38]
Chr17:61482524 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2368C>T (p.His790Tyr) |
single nucleotide variant |
not provided [RCV004779853] |
Chr17:63355176 [GRCh38]
Chr17:61432537 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.151A>G (p.Thr51Ala) |
single nucleotide variant |
not provided [RCV004777547] |
Chr17:63099186 [GRCh38]
Chr17:61176547 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.2564A>G (p.Lys855Arg) |
single nucleotide variant |
not provided [RCV004777396] |
Chr17:63355372 [GRCh38]
Chr17:61432733 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5972A>G (p.Asn1991Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003218431] |
Chr17:63421702 [GRCh38]
Chr17:61499063 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3052-2244T>G |
single nucleotide variant |
not provided [RCV003222929] |
Chr17:63393499 [GRCh38]
Chr17:61470860 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6044G>A (p.Arg2015His) |
single nucleotide variant |
Inborn genetic diseases [RCV004285586]|not provided [RCV003222932] |
Chr17:63421774 [GRCh38]
Chr17:61499135 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.897G>A (p.Leu299=) |
single nucleotide variant |
not provided [RCV003222927] |
Chr17:63237941 [GRCh38]
Chr17:61315302 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5654C>T (p.Pro1885Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003286903] |
Chr17:63421384 [GRCh38]
Chr17:61498745 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6044_6054dup (p.Leu2019fs) |
duplication |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004785008] |
Chr17:63421770..63421771 [GRCh38]
Chr17:61499131..61499132 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5480G>C (p.Gly1827Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003206107] |
Chr17:63421210 [GRCh38]
Chr17:61498571 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4485C>T (p.Phe1495=) |
single nucleotide variant |
not provided [RCV003222931] |
Chr17:63420215 [GRCh38]
Chr17:61497576 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4370G>A (p.Arg1457Lys) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140858] |
Chr17:63420100 [GRCh38]
Chr17:61497461 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6098T>C (p.Val2033Ala) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140859] |
Chr17:63421828 [GRCh38]
Chr17:61499189 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6177G>A (p.Gln2059=) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140860] |
Chr17:63421907 [GRCh38]
Chr17:61499268 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5404G>A (p.Gly1802Arg) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140861] |
Chr17:63421134 [GRCh38]
Chr17:61498495 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6121C>G (p.Gln2041Glu) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140862] |
Chr17:63421851 [GRCh38]
Chr17:61499212 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.936T>G (p.Ser312Arg) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140863] |
Chr17:63237980 [GRCh38]
Chr17:61315341 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5403C>G (p.Ile1801Met) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140864] |
Chr17:63421133 [GRCh38]
Chr17:61498494 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1441+3A>G |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140865] |
Chr17:63314672 [GRCh38]
Chr17:61392033 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.601C>T (p.Arg201Trp) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140866] |
Chr17:63200789 [GRCh38]
Chr17:61278150 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1954A>G (p.Thr652Ala) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140867] |
Chr17:63351396 [GRCh38]
Chr17:61428757 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2405A>G (p.Asn802Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004285585]|not provided [RCV003222928] |
Chr17:63355213 [GRCh38]
Chr17:61432574 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| NM_001394998.1(TANC2):c.6077C>T (p.Ser2026Phe) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140868] |
Chr17:63421807 [GRCh38]
Chr17:61499168 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2858G>A (p.Arg953Gln) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140869] |
Chr17:63389351 [GRCh38]
Chr17:61466712 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1111A>G (p.Met371Val) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140870] |
Chr17:63267825 [GRCh38]
Chr17:61345186 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4595C>G (p.Pro1532Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003212053] |
Chr17:63420325 [GRCh38]
Chr17:61497686 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2962T>G (p.Ser988Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003214691] |
Chr17:63389455 [GRCh38]
Chr17:61466816 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3861TGT[2] (p.Val1290del) |
microsatellite |
not provided [RCV003228330] |
Chr17:63412093..63412095 [GRCh38]
Chr17:61489454..61489456 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2512C>T (p.His838Tyr) |
single nucleotide variant |
not provided [RCV003227194] |
Chr17:63355320 [GRCh38]
Chr17:61432681 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2698A>C (p.Ser900Arg) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003225820] |
Chr17:63388641 [GRCh38]
Chr17:61466002 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4366T>C (p.Cys1456Arg) |
single nucleotide variant |
not provided [RCV003221580] |
Chr17:63420096 [GRCh38]
Chr17:61497457 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2605T>G (p.Phe869Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003181162] |
Chr17:63379740 [GRCh38]
Chr17:61457101 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4400_4408del (p.Pro1467_Pro1469del) |
deletion |
TANC2-related disorder [RCV003906675]|not provided [RCV003222930] |
Chr17:63420122..63420130 [GRCh38]
Chr17:61497483..61497491 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.4781A>G (p.Gln1594Arg) |
single nucleotide variant |
not provided [RCV003219064] |
Chr17:63420511 [GRCh38]
Chr17:61497872 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3238-1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV003198035] |
Chr17:63398820 [GRCh38]
Chr17:61476181 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_001394998.1(TANC2):c.5017T>C (p.Tyr1673His) |
single nucleotide variant |
Inborn genetic diseases [RCV003191966] |
Chr17:63420747 [GRCh38]
Chr17:61498108 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.29T>G (p.Leu10Arg) |
single nucleotide variant |
not provided [RCV003323051] |
Chr17:63009588 [GRCh38]
Chr17:61086949 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.1372G>A (p.Val458Met) |
single nucleotide variant |
not provided [RCV003322092] |
Chr17:63314600 [GRCh38]
Chr17:61391961 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1534C>T (p.Arg512Cys) |
single nucleotide variant |
not provided [RCV003322202] |
Chr17:63319049 [GRCh38]
Chr17:61396410 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1090C>G (p.Pro364Ala) |
single nucleotide variant |
not provided [RCV004590938] |
Chr17:63267804 [GRCh38]
Chr17:61345165 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.506G>T (p.Gly169Val) |
single nucleotide variant |
not provided [RCV004798258] |
Chr17:63194063 [GRCh38]
Chr17:61271424 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5642C>G (p.Pro1881Arg) |
single nucleotide variant |
not provided [RCV003326971] |
Chr17:63421372 [GRCh38]
Chr17:61498733 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3798C>T (p.Ile1266=) |
single nucleotide variant |
not provided [RCV003326970] |
Chr17:63412030 [GRCh38]
Chr17:61489391 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4167+2_4167+3insTT |
insertion |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003326310] |
Chr17:63415675..63415676 [GRCh38]
Chr17:61493036..61493037 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2503A>G (p.Met835Val) |
single nucleotide variant |
not provided [RCV003329732] |
Chr17:63355311 [GRCh38]
Chr17:61432672 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17q23.2-23.3(chr17:60705832-61417743)x1 |
copy number loss |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003329501] |
Chr17:60705832..61417743 [GRCh37]
Chr17:17q23.2-23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4027A>G (p.Lys1343Glu) |
single nucleotide variant |
not provided [RCV003329632] |
Chr17:63415534 [GRCh38]
Chr17:61492895 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17q23.3(chr17:61151304-61457187)x1 |
copy number loss |
not provided [RCV003326982] |
Chr17:61151304..61457187 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.4471G>A (p.Val1491Ile) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003340787] |
Chr17:63420201 [GRCh38]
Chr17:61497562 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.197T>C (p.Leu66Pro) |
single nucleotide variant |
TANC2-related disorder [RCV003928992]|not provided [RCV003334204] |
Chr17:63099232 [GRCh38]
Chr17:61176593 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.3199C>G (p.Gln1067Glu) |
single nucleotide variant |
not provided [RCV003332624] |
Chr17:63395890 [GRCh38]
Chr17:61473251 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5525A>G (p.Asn1842Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003357362] |
Chr17:63421255 [GRCh38]
Chr17:61498616 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3161A>G (p.Gln1054Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003342133]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003492870]|not provided [RCV004721181] |
Chr17:63395852 [GRCh38]
Chr17:61473213 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4124T>C (p.Val1375Ala) |
single nucleotide variant |
not provided [RCV003332582] |
Chr17:63415631 [GRCh38]
Chr17:61492992 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.202G>T (p.Val68Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003381039] |
Chr17:63099237 [GRCh38]
Chr17:61176598 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.77G>A (p.Ser26Asn) |
single nucleotide variant |
not specified [RCV003330472] |
Chr17:63073952 [GRCh38]
Chr17:61151313 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.5593C>T (p.Arg1865Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003376328] |
Chr17:63421323 [GRCh38]
Chr17:61498684 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1079A>G (p.Gln360Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003365068]|not provided [RCV003883986] |
Chr17:63267793 [GRCh38]
Chr17:61345154 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| NM_001394998.1(TANC2):c.4927G>T (p.Gly1643Cys) |
single nucleotide variant |
not provided [RCV003332905] |
Chr17:63420657 [GRCh38]
Chr17:61498018 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1540C>T (p.Arg514Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004364729]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004784157]|not provided [RCV003456986] |
Chr17:63319055 [GRCh38]
Chr17:61396416 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| NM_001394998.1(TANC2):c.4393C>A (p.Pro1465Thr) |
single nucleotide variant |
not provided [RCV003571245] |
Chr17:63420123 [GRCh38]
Chr17:61497484 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4327C>T (p.Arg1443Cys) |
single nucleotide variant |
TANC2-related disorder [RCV003421041] |
Chr17:63420057 [GRCh38]
Chr17:61497418 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.68-24166A>C |
single nucleotide variant |
not provided [RCV003421399] |
Chr17:63049777 [GRCh38]
Chr17:61127138 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001394998.1(TANC2):c.1033+9TTG[8] |
microsatellite |
not provided [RCV003421402] |
Chr17:63238085..63238086 [GRCh38]
Chr17:61315446..61315447 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.2757A>C (p.Thr919=) |
single nucleotide variant |
not provided [RCV003421408] |
Chr17:63388700 [GRCh38]
Chr17:61466061 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1556T>C (p.Met519Thr) |
single nucleotide variant |
not provided [RCV003428380] |
Chr17:63319071 [GRCh38]
Chr17:61396432 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3868G>C (p.Val1290Leu) |
single nucleotide variant |
not provided [RCV003428388] |
Chr17:63412100 [GRCh38]
Chr17:61489461 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4596G>A (p.Pro1532=) |
single nucleotide variant |
not provided [RCV003428391] |
Chr17:63420326 [GRCh38]
Chr17:61497687 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2621A>G (p.Gln874Arg) |
single nucleotide variant |
TANC2-related disorder [RCV003405916] |
Chr17:63379756 [GRCh38]
Chr17:61457117 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4900A>G (p.Ser1634Gly) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004818887] |
Chr17:63420630 [GRCh38]
Chr17:61497991 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5483C>G (p.Ser1828Cys) |
single nucleotide variant |
TANC2-related disorder [RCV003399532] |
Chr17:63421213 [GRCh38]
Chr17:61498574 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3329C>T (p.Thr1110Ile) |
single nucleotide variant |
not provided [RCV003443674] |
Chr17:63398912 [GRCh38]
Chr17:61476273 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1942A>G (p.Lys648Glu) |
single nucleotide variant |
TANC2-related disorder [RCV003427930] |
Chr17:63351384 [GRCh38]
Chr17:61428745 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.90G>A (p.Pro30=) |
single nucleotide variant |
not provided [RCV003428374] |
Chr17:63073965 [GRCh38]
Chr17:61151326 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.1380C>G (p.Leu460=) |
single nucleotide variant |
TANC2-related disorder [RCV003929089]|not provided [RCV003428379] |
Chr17:63314608 [GRCh38]
Chr17:61391969 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6081C>A (p.Ser2027=) |
single nucleotide variant |
not provided [RCV003428396] |
Chr17:63421811 [GRCh38]
Chr17:61499172 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5765C>A (p.Thr1922Asn) |
single nucleotide variant |
not provided [RCV004778463] |
Chr17:63421495 [GRCh38]
Chr17:61498856 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.770-3C>T |
single nucleotide variant |
not provided [RCV003421400] |
Chr17:63237811 [GRCh38]
Chr17:61315172 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4925C>G (p.Ser1642Cys) |
single nucleotide variant |
not provided [RCV003421410] |
Chr17:63420655 [GRCh38]
Chr17:61498016 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2369A>T (p.His790Leu) |
single nucleotide variant |
not provided [RCV003456987] |
Chr17:63355177 [GRCh38]
Chr17:61432538 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.94C>G (p.Arg32Gly) |
single nucleotide variant |
TANC2-related disorder [RCV003419038] |
Chr17:63073969 [GRCh38]
Chr17:61151330 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.4730A>G (p.His1577Arg) |
single nucleotide variant |
not provided [RCV003443528] |
Chr17:63420460 [GRCh38]
Chr17:61497821 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2382T>A (p.Asp794Glu) |
single nucleotide variant |
TANC2-related disorder [RCV003412112] |
Chr17:63355190 [GRCh38]
Chr17:61432551 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5767C>T (p.Arg1923Ter) |
single nucleotide variant |
not provided [RCV003442240] |
Chr17:63421497 [GRCh38]
Chr17:61498858 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1920C>T (p.Ile640=) |
single nucleotide variant |
TANC2-related disorder [RCV003929090]|not provided [RCV003428381] |
Chr17:63351362 [GRCh38]
Chr17:61428723 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.1953A>G (p.Val651=) |
single nucleotide variant |
not provided [RCV003428382] |
Chr17:63351395 [GRCh38]
Chr17:61428756 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2306T>C (p.Phe769Ser) |
single nucleotide variant |
not provided [RCV003428383] |
Chr17:63355114 [GRCh38]
Chr17:61432475 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3350G>C (p.Gly1117Ala) |
single nucleotide variant |
not provided [RCV003428385] |
Chr17:63405140 [GRCh38]
Chr17:61482501 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.3944C>T (p.Ala1315Val) |
single nucleotide variant |
not provided [RCV003428389] |
Chr17:63413558 [GRCh38]
Chr17:61490919 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5462G>A (p.Arg1821His) |
single nucleotide variant |
not provided [RCV003428393] |
Chr17:63421192 [GRCh38]
Chr17:61498553 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5869G>C (p.Val1957Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004364550]|not provided [RCV003428395] |
Chr17:63421599 [GRCh38]
Chr17:61498960 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1446G>A (p.Val482=) |
single nucleotide variant |
not provided [RCV003421404] |
Chr17:63318961 [GRCh38]
Chr17:61396322 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.954G>C (p.Glu318Asp) |
single nucleotide variant |
TANC2-related disorder [RCV003412384] |
Chr17:63237998 [GRCh38]
Chr17:61315359 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2425A>C (p.Thr809Pro) |
single nucleotide variant |
not provided [RCV003421407] |
Chr17:63355233 [GRCh38]
Chr17:61432594 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5466C>T (p.Ser1822=) |
single nucleotide variant |
not provided [RCV003421411] |
Chr17:63421196 [GRCh38]
Chr17:61498557 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5565G>A (p.Pro1855=) |
single nucleotide variant |
not provided [RCV003421412] |
Chr17:63421295 [GRCh38]
Chr17:61498656 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6036C>T (p.Asn2012=) |
single nucleotide variant |
TANC2-related disorder [RCV003908903]|not provided [RCV003421413] |
Chr17:63421766 [GRCh38]
Chr17:61499127 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.114C>T (p.Asp38=) |
single nucleotide variant |
not provided [RCV003428376] |
Chr17:63073989 [GRCh38]
Chr17:61151350 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.1020A>C (p.Pro340=) |
single nucleotide variant |
not provided [RCV003428378] |
Chr17:63238064 [GRCh38]
Chr17:61315425 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2412G>C (p.Gly804=) |
single nucleotide variant |
not provided [RCV003428384] |
Chr17:63355220 [GRCh38]
Chr17:61432581 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4797T>C (p.Arg1599=) |
single nucleotide variant |
not provided [RCV003428392] |
Chr17:63420527 [GRCh38]
Chr17:61497888 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.128G>A (p.Arg43His) |
single nucleotide variant |
not provided [RCV003413300] |
Chr17:63074003 [GRCh38]
Chr17:61151364 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.1902G>A (p.Ser634=) |
single nucleotide variant |
not provided [RCV003413301] |
Chr17:63351344 [GRCh38]
Chr17:61428705 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5228T>A (p.Val1743Asp) |
single nucleotide variant |
not provided [RCV003413302] |
Chr17:63420958 [GRCh38]
Chr17:61498319 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.101A>G (p.Gln34Arg) |
single nucleotide variant |
not provided [RCV003441265] |
Chr17:63073976 [GRCh38]
Chr17:61151337 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.85C>G (p.Pro29Ala) |
single nucleotide variant |
not provided [RCV003428373] |
Chr17:63073960 [GRCh38]
Chr17:61151321 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.321T>C (p.Thr107=) |
single nucleotide variant |
not provided [RCV003428377] |
Chr17:63099356 [GRCh38]
Chr17:61176717 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.4428G>A (p.Pro1476=) |
single nucleotide variant |
not provided [RCV003428390] |
Chr17:63420158 [GRCh38]
Chr17:61497519 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5544G>A (p.Pro1848=) |
single nucleotide variant |
not provided [RCV003428394] |
Chr17:63421274 [GRCh38]
Chr17:61498635 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6168G>A (p.Arg2056=) |
single nucleotide variant |
not provided [RCV003428397] |
Chr17:63421898 [GRCh38]
Chr17:61499259 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.97A>C (p.Arg33=) |
single nucleotide variant |
not provided [RCV003428375] |
Chr17:63073972 [GRCh38]
Chr17:61151333 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.3420A>T (p.Arg1140=) |
single nucleotide variant |
not provided [RCV003428386] |
Chr17:63405210 [GRCh38]
Chr17:61482571 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3567C>T (p.Thr1189=) |
single nucleotide variant |
not provided [RCV003428387] |
Chr17:63406255 [GRCh38]
Chr17:61483616 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6203C>T (p.Pro2068Leu) |
single nucleotide variant |
not provided [RCV003428398] |
Chr17:63421933 [GRCh38]
Chr17:61499294 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.802C>T (p.Arg268Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004364549]|not provided [RCV003421401] |
Chr17:63237846 [GRCh38]
Chr17:61315207 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1229C>T (p.Thr410Ile) |
single nucleotide variant |
not provided [RCV003421403] |
Chr17:63314457 [GRCh38]
Chr17:61391818 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1498A>G (p.Ile500Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004963653]|not provided [RCV003421405] |
Chr17:63319013 [GRCh38]
Chr17:61396374 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| NM_001394998.1(TANC2):c.2004G>A (p.Arg668=) |
single nucleotide variant |
not provided [RCV003421406] |
Chr17:63354812 [GRCh38]
Chr17:61432173 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4111C>T (p.Arg1371Trp) |
single nucleotide variant |
not provided [RCV003421409] |
Chr17:63415618 [GRCh38]
Chr17:61492979 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1123_1124del (p.Ser375fs) |
microsatellite |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003883311]|Intellectual disability [RCV004798984] |
Chr17:63267835..63267836 [GRCh38]
Chr17:61345196..61345197 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.587C>G (p.Ser196Ter) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003594709] |
Chr17:63200775 [GRCh38]
Chr17:61278136 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.6154T>C (p.Ser2052Pro) |
single nucleotide variant |
not specified [RCV003994832] |
Chr17:63421884 [GRCh38]
Chr17:61499245 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.952G>A (p.Glu318Lys) |
single nucleotide variant |
not provided [RCV003723817] |
Chr17:63237996 [GRCh38]
Chr17:61315357 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1989G>A (p.Leu663=) |
single nucleotide variant |
TANC2-related disorder [RCV003956643]|not provided [RCV003886283] |
Chr17:63354797 [GRCh38]
Chr17:61432158 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_001394998.1(TANC2):c.3762G>A (p.Glu1254=) |
single nucleotide variant |
TANC2-related disorder [RCV003939815] |
Chr17:63411683 [GRCh38]
Chr17:61489044 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.206G>A (p.Ser69Asn) |
single nucleotide variant |
TANC2-related disorder [RCV003892231] |
Chr17:63099241 [GRCh38]
Chr17:61176602 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.2798A>G (p.Tyr933Cys) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003993596] |
Chr17:63388741 [GRCh38]
Chr17:61466102 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4967A>G (p.Gln1656Arg) |
single nucleotide variant |
not provided [RCV003887521] |
Chr17:63420697 [GRCh38]
Chr17:61498058 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1344C>T (p.Phe448=) |
single nucleotide variant |
TANC2-related disorder [RCV003907019] |
Chr17:63314572 [GRCh38]
Chr17:61391933 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5549C>T (p.Pro1850Leu) |
single nucleotide variant |
not provided [RCV003884052] |
Chr17:63421279 [GRCh38]
Chr17:61498640 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3221G>C (p.Ser1074Thr) |
single nucleotide variant |
not provided [RCV003993189] |
Chr17:63395912 [GRCh38]
Chr17:61473273 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2747C>T (p.Ser916Phe) |
single nucleotide variant |
not provided [RCV003885070] |
Chr17:63388690 [GRCh38]
Chr17:61466051 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5650C>T (p.Arg1884Trp) |
single nucleotide variant |
TANC2-related disorder [RCV003973893] |
Chr17:63421380 [GRCh38]
Chr17:61498741 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4059C>T (p.Tyr1353=) |
single nucleotide variant |
not provided [RCV003992936] |
Chr17:63415566 [GRCh38]
Chr17:61492927 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6051C>T (p.Asp2017=) |
single nucleotide variant |
not provided [RCV003993181] |
Chr17:63421781 [GRCh38]
Chr17:61499142 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3202G>A (p.Ala1068Thr) |
single nucleotide variant |
TANC2-related disorder [RCV003949441] |
Chr17:63395893 [GRCh38]
Chr17:61473254 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5222G>A (p.Arg1741Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004674012]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003989418] |
Chr17:63420952 [GRCh38]
Chr17:61498313 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3388C>T (p.Gln1130Ter) |
single nucleotide variant |
TANC2-related disorder [RCV003894273] |
Chr17:63405178 [GRCh38]
Chr17:61482539 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.4407G>A (p.Pro1469=) |
single nucleotide variant |
not provided [RCV003993125] |
Chr17:63420137 [GRCh38]
Chr17:61497498 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1042T>A (p.Ser348Thr) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003990104] |
Chr17:63267756 [GRCh38]
Chr17:61345117 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3354G>A (p.Arg1118=) |
single nucleotide variant |
TANC2-related disorder [RCV003959435] |
Chr17:63405144 [GRCh38]
Chr17:61482505 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6053T>C (p.Leu2018Pro) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003985174] |
Chr17:63421783 [GRCh38]
Chr17:61499144 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4689A>G (p.Arg1563=) |
single nucleotide variant |
not provided [RCV003885894] |
Chr17:63420419 [GRCh38]
Chr17:61497780 [GRCh37]
Chr17:17q23.3 |
likely benign |
| GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3 |
copy number gain |
See cases [RCV004442795] |
Chr17:58596397..62540700 [GRCh37]
Chr17:17q23.2-23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2424C>T (p.Gly808=) |
single nucleotide variant |
not provided [RCV003886704] |
Chr17:63355232 [GRCh38]
Chr17:61432593 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4129CTC[2] (p.Leu1379del) |
microsatellite |
TANC2-related disorder [RCV003898966] |
Chr17:63415636..63415638 [GRCh38]
Chr17:61492997..61492999 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4849C>A (p.Pro1617Thr) |
single nucleotide variant |
TANC2-related disorder [RCV003921582] |
Chr17:63420579 [GRCh38]
Chr17:61497940 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3661T>C (p.Ser1221Pro) |
single nucleotide variant |
TANC2-related disorder [RCV003936764]|not provided [RCV004585084] |
Chr17:63411582 [GRCh38]
Chr17:61488943 [GRCh37]
Chr17:17q23.3 |
benign|likely benign |
| NM_001394998.1(TANC2):c.5080G>T (p.Ala1694Ser) |
single nucleotide variant |
not provided [RCV003887554] |
Chr17:63420810 [GRCh38]
Chr17:61498171 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3980T>A (p.Leu1327Gln) |
single nucleotide variant |
not provided [RCV003887577] |
Chr17:63413594 [GRCh38]
Chr17:61490955 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1752C>T (p.Asp584=) |
single nucleotide variant |
TANC2-related disorder [RCV003956953] |
Chr17:63340277 [GRCh38]
Chr17:61417638 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6204G>A (p.Pro2068=) |
single nucleotide variant |
TANC2-related disorder [RCV003957334] |
Chr17:63421934 [GRCh38]
Chr17:61499295 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3996G>A (p.Met1332Ile) |
single nucleotide variant |
not provided [RCV003885125] |
Chr17:63413610 [GRCh38]
Chr17:61490971 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5892G>A (p.Thr1964=) |
single nucleotide variant |
TANC2-related disorder [RCV003904141]|not provided [RCV005242456] |
Chr17:63421622 [GRCh38]
Chr17:61498983 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1808-7A>G |
single nucleotide variant |
TANC2-related disorder [RCV003904622] |
Chr17:63351243 [GRCh38]
Chr17:61428604 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3929-7A>G |
single nucleotide variant |
not provided [RCV004547131] |
Chr17:63413536 [GRCh38]
Chr17:61490897 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4684A>T (p.Thr1562Ser) |
single nucleotide variant |
TANC2-related disorder [RCV003911550] |
Chr17:63420414 [GRCh38]
Chr17:61497775 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4807C>G (p.Pro1603Ala) |
single nucleotide variant |
not provided [RCV003886852] |
Chr17:63420537 [GRCh38]
Chr17:61497898 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3804C>T (p.His1268=) |
single nucleotide variant |
TANC2-related disorder [RCV003952066] |
Chr17:63412036 [GRCh38]
Chr17:61489397 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.981A>G (p.Gln327=) |
single nucleotide variant |
TANC2-related disorder [RCV003964196] |
Chr17:63238025 [GRCh38]
Chr17:61315386 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5409C>T (p.Arg1803=) |
single nucleotide variant |
TANC2-related disorder [RCV003964407] |
Chr17:63421139 [GRCh38]
Chr17:61498500 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_001394998.1(TANC2):c.867G>A (p.Gln289=) |
single nucleotide variant |
TANC2-related disorder [RCV003974711] |
Chr17:63237911 [GRCh38]
Chr17:61315272 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_001394998.1(TANC2):c.1033+8T>G |
single nucleotide variant |
not provided [RCV004546915] |
Chr17:63238085 [GRCh38]
Chr17:61315446 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5943C>T (p.Ile1981=) |
single nucleotide variant |
TANC2-related disorder [RCV003949669] |
Chr17:63421673 [GRCh38]
Chr17:61499034 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.*2201_*2202delinsGA |
indel |
not provided [RCV004555087] |
Chr17:63424156..63424157 [GRCh38]
Chr17:61501517..61501518 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4477G>A (p.Asp1493Asn) |
single nucleotide variant |
not provided [RCV003885137] |
Chr17:63420207 [GRCh38]
Chr17:61497568 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1280C>T (p.Ala427Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004369727]|TANC2-related disorder [RCV003893686] |
Chr17:63314508 [GRCh38]
Chr17:61391869 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2183A>G (p.Tyr728Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004369706]|not provided [RCV003884203] |
Chr17:63354991 [GRCh38]
Chr17:61432352 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5224T>C (p.Leu1742=) |
single nucleotide variant |
TANC2-related disorder [RCV003967003] |
Chr17:63420954 [GRCh38]
Chr17:61498315 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5271G>A (p.Pro1757=) |
single nucleotide variant |
TANC2-related disorder [RCV003909722]|not provided [RCV005242465] |
Chr17:63421001 [GRCh38]
Chr17:61498362 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.639C>T (p.Ala213=) |
single nucleotide variant |
not provided [RCV003885799] |
Chr17:63200827 [GRCh38]
Chr17:61278188 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.6076T>G (p.Ser2026Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004369688]|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005030356]|not provided [RCV003886117] |
Chr17:63421806 [GRCh38]
Chr17:61499167 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| NM_001394998.1(TANC2):c.2044del (p.Gln682fs) |
deletion |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003990585] |
Chr17:63354851 [GRCh38]
Chr17:61432212 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.5798T>C (p.Ile1933Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004469045] |
Chr17:63421528 [GRCh38]
Chr17:61498889 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4095G>C (p.Glu1365Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004469036] |
Chr17:63415602 [GRCh38]
Chr17:61492963 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4712C>T (p.Pro1571Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004469037] |
Chr17:63420442 [GRCh38]
Chr17:61497803 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5528C>A (p.Pro1843His) |
single nucleotide variant |
Inborn genetic diseases [RCV004469043] |
Chr17:63421258 [GRCh38]
Chr17:61498619 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1808del (p.Glu603fs) |
deletion |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004555184] |
Chr17:63351250 [GRCh38]
Chr17:61428611 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.803G>A (p.Arg268His) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004555822] |
Chr17:63237847 [GRCh38]
Chr17:61315208 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3671G>A (p.Arg1224His) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004547264] |
Chr17:63411592 [GRCh38]
Chr17:61488953 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3670C>T (p.Arg1224Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004469034] |
Chr17:63411591 [GRCh38]
Chr17:61488952 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.832G>A (p.Glu278Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004469047] |
Chr17:63237876 [GRCh38]
Chr17:61315237 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1411G>T (p.Ala471Ser) |
single nucleotide variant |
not provided [RCV004572992] |
Chr17:63314639 [GRCh38]
Chr17:61392000 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3782A>G (p.Asp1261Gly) |
single nucleotide variant |
not provided [RCV004573014] |
Chr17:63412014 [GRCh38]
Chr17:61489375 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2583-1G>A |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004566403] |
Chr17:63379717 [GRCh38]
Chr17:61457078 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_001394998.1(TANC2):c.3695C>T (p.Ala1232Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004469035] |
Chr17:63411616 [GRCh38]
Chr17:61488977 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4886G>C (p.Ser1629Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004469038] |
Chr17:63420616 [GRCh38]
Chr17:61497977 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4925C>T (p.Ser1642Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004469039] |
Chr17:63420655 [GRCh38]
Chr17:61498016 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4955C>T (p.Thr1652Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004469040] |
Chr17:63420685 [GRCh38]
Chr17:61498046 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5738_5742del (p.Thr1913fs) |
deletion |
Inborn genetic diseases [RCV004469044] |
Chr17:63421465..63421469 [GRCh38]
Chr17:61498826..61498830 [GRCh37]
Chr17:17q23.3 |
likely pathogenic|uncertain significance |
| NM_001394998.1(TANC2):c.1389T>A (p.His463Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004469031] |
Chr17:63314617 [GRCh38]
Chr17:61391978 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3318C>T (p.Leu1106=) |
single nucleotide variant |
Inborn genetic diseases [RCV004469032] |
Chr17:63398901 [GRCh38]
Chr17:61476262 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3449G>A (p.Arg1150His) |
single nucleotide variant |
Inborn genetic diseases [RCV004469033] |
Chr17:63405239 [GRCh38]
Chr17:61482600 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5233C>T (p.Gln1745Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004469041] |
Chr17:63420963 [GRCh38]
Chr17:61498324 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.745G>A (p.Glu249Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004469042] |
Chr17:63200933 [GRCh38]
Chr17:61278294 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6169C>A (p.Gln2057Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004469046] |
Chr17:63421899 [GRCh38]
Chr17:61499260 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4006dup (p.Asp1336fs) |
duplication |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004595068] |
Chr17:63413615..63413616 [GRCh38]
Chr17:61490976..61490977 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_001394998.1(TANC2):c.189C>T (p.Val63=) |
single nucleotide variant |
not provided [RCV004585361] |
Chr17:63099224 [GRCh38]
Chr17:61176585 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.1360A>G (p.Ile454Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004681939] |
Chr17:63314588 [GRCh38]
Chr17:61391949 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6187A>G (p.Ile2063Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004681940] |
Chr17:63421917 [GRCh38]
Chr17:61499278 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4901G>C (p.Ser1634Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004681941] |
Chr17:63420631 [GRCh38]
Chr17:61497992 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.524A>C (p.Lys175Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004681942] |
Chr17:63194081 [GRCh38]
Chr17:61271442 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4633G>A (p.Gly1545Ser) |
single nucleotide variant |
not provided [RCV004575106] |
Chr17:63420363 [GRCh38]
Chr17:61497724 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1822G>T (p.Asp608Tyr) |
single nucleotide variant |
not provided [RCV004590688] |
Chr17:63351264 [GRCh38]
Chr17:61428625 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.713A>G (p.Tyr238Cys) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004595255] |
Chr17:63200901 [GRCh38]
Chr17:61278262 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1702C>T (p.Arg568Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004673165] |
Chr17:63340227 [GRCh38]
Chr17:61417588 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5848C>T (p.Arg1950Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004673166] |
Chr17:63421578 [GRCh38]
Chr17:61498939 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.127C>T (p.Arg43Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004673167] |
Chr17:63074002 [GRCh38]
Chr17:61151363 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001394998.1(TANC2):c.3149C>T (p.Thr1050Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004673168] |
Chr17:63395840 [GRCh38]
Chr17:61473201 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2605T>C (p.Phe869Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004673169] |
Chr17:63379740 [GRCh38]
Chr17:61457101 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6037G>A (p.Gly2013Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004673170] |
Chr17:63421767 [GRCh38]
Chr17:61499128 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1633T>C (p.Phe545Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004673171] |
Chr17:63340158 [GRCh38]
Chr17:61417519 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3097G>A (p.Ala1033Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004673172] |
Chr17:63395788 [GRCh38]
Chr17:61473149 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2949del (p.Asn984fs) |
deletion |
Inborn genetic diseases [RCV004673173] |
Chr17:63389441 [GRCh38]
Chr17:61466802 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_001394998.1(TANC2):c.2953G>A (p.Val985Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004673174] |
Chr17:63389446 [GRCh38]
Chr17:61466807 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.76A>G (p.Ser26Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004673175] |
Chr17:63073951 [GRCh38]
Chr17:61151312 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.3889G>A (p.Ala1297Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004673176] |
Chr17:63412121 [GRCh38]
Chr17:61489482 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3956C>T (p.Ser1319Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004673177] |
Chr17:63413570 [GRCh38]
Chr17:61490931 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5951T>C (p.Ile1984Thr) |
single nucleotide variant |
not provided [RCV004779661] |
Chr17:63421681 [GRCh38]
Chr17:61499042 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5146G>C (p.Ala1716Pro) |
single nucleotide variant |
not provided [RCV004779932] |
Chr17:63420876 [GRCh38]
Chr17:61498237 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2711G>A (p.Gly904Asp) |
single nucleotide variant |
not provided [RCV004775183] |
Chr17:63388654 [GRCh38]
Chr17:61466015 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3632T>G (p.Leu1211Arg) |
single nucleotide variant |
not specified [RCV004766907] |
Chr17:63411553 [GRCh38]
Chr17:61488914 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4801A>C (p.Ser1601Arg) |
single nucleotide variant |
not provided [RCV004763194] |
|
uncertain significance |
| NM_001394998.1(TANC2):c.85C>A (p.Pro29Thr) |
single nucleotide variant |
not provided [RCV004770829] |
Chr17:63073960 [GRCh38]
Chr17:61151321 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.1692G>C (p.Glu564Asp) |
single nucleotide variant |
not provided [RCV004810134] |
Chr17:63340217 [GRCh38]
Chr17:61417578 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4008C>T (p.Asp1336=) |
single nucleotide variant |
not provided [RCV004810183] |
Chr17:63413622 [GRCh38]
Chr17:61490983 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1A>G (p.Met1Val) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004723713] |
Chr17:63009560 [GRCh38]
Chr17:61086921 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.3221G>A (p.Ser1074Asn) |
single nucleotide variant |
not provided [RCV004764083] |
|
uncertain significance |
| NM_001394998.1(TANC2):c.56A>G (p.Asn19Ser) |
single nucleotide variant |
not provided [RCV004811052] |
Chr17:63009615 [GRCh38]
Chr17:61086976 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.3469G>A (p.Val1157Ile) |
single nucleotide variant |
TANC2-related disorder [RCV004747493] |
Chr17:63406157 [GRCh38]
Chr17:61483518 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5011C>T (p.Arg1671Trp) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005230783]|TANC2-related disorder [RCV004747811] |
Chr17:63420741 [GRCh38]
Chr17:61498102 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1938G>A (p.Trp646Ter) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004759539] |
|
pathogenic |
| NM_001394998.1(TANC2):c.1426C>T (p.His476Tyr) |
single nucleotide variant |
not provided [RCV004761587] |
|
uncertain significance |
| NM_001394998.1(TANC2):c.4658G>A (p.Arg1553Gln) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004785799] |
Chr17:63420388 [GRCh38]
Chr17:61497749 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4871C>T (p.Pro1624Leu) |
single nucleotide variant |
TANC2-related disorder [RCV004729826] |
Chr17:63420601 [GRCh38]
Chr17:61497962 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.6061C>T (p.Arg2021Ter) |
single nucleotide variant |
not provided [RCV004766115] |
Chr17:63421791 [GRCh38]
Chr17:61499152 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3736C>G (p.Leu1246Val) |
single nucleotide variant |
not provided [RCV004766474] |
Chr17:63411657 [GRCh38]
Chr17:61489018 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.934A>G (p.Ser312Gly) |
single nucleotide variant |
not provided [RCV004772064] |
Chr17:63237978 [GRCh38]
Chr17:61315339 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2015A>T (p.Asp672Val) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004723719] |
Chr17:63354823 [GRCh38]
Chr17:61432184 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3568G>A (p.Val1190Met) |
single nucleotide variant |
not provided [RCV004776024] |
Chr17:63406256 [GRCh38]
Chr17:61483617 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3127T>G (p.Phe1043Val) |
single nucleotide variant |
not provided [RCV004760279] |
|
uncertain significance |
| NM_001394998.1(TANC2):c.1846G>A (p.Asp616Asn) |
single nucleotide variant |
TANC2-related disorder [RCV004747551] |
Chr17:63351288 [GRCh38]
Chr17:61428649 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5150A>G (p.Tyr1717Cys) |
single nucleotide variant |
TANC2-related disorder [RCV004747918] |
Chr17:63420880 [GRCh38]
Chr17:61498241 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3778G>T (p.Val1260Leu) |
single nucleotide variant |
not provided [RCV004773714] |
Chr17:63412010 [GRCh38]
Chr17:61489371 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.706T>C (p.Cys236Arg) |
single nucleotide variant |
not provided [RCV004761672] |
|
uncertain significance |
| NM_001394998.1(TANC2):c.5693C>T (p.Pro1898Leu) |
single nucleotide variant |
TANC2-related disorder [RCV004724377] |
Chr17:63421423 [GRCh38]
Chr17:61498784 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1423C>T (p.Pro475Ser) |
single nucleotide variant |
not provided [RCV004774789] |
Chr17:63314651 [GRCh38]
Chr17:61392012 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2230G>C (p.Val744Leu) |
single nucleotide variant |
not provided [RCV004762609] |
|
uncertain significance |
| NM_001394998.1(TANC2):c.3589+31del |
deletion |
not provided [RCV004699028] |
Chr17:63406307 [GRCh38]
Chr17:61483668 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5918A>G (p.Glu1973Gly) |
single nucleotide variant |
not provided [RCV004760177] |
|
uncertain significance |
| NM_001394998.1(TANC2):c.5823G>T (p.Gln1941His) |
single nucleotide variant |
TANC2-related disorder [RCV004747006] |
Chr17:63421553 [GRCh38]
Chr17:61498914 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4580C>T (p.Pro1527Leu) |
single nucleotide variant |
not provided [RCV004768066] |
Chr17:63420310 [GRCh38]
Chr17:61497671 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1592A>C (p.Tyr531Ser) |
single nucleotide variant |
not provided [RCV004776224] |
Chr17:63340117 [GRCh38]
Chr17:61417478 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4741C>A (p.His1581Asn) |
single nucleotide variant |
not specified [RCV004702813] |
Chr17:63420471 [GRCh38]
Chr17:61497832 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.599A>C (p.Gln200Pro) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004764469] |
Chr17:63200787 [GRCh38]
Chr17:61278148 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2582+2T>G |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004764518] |
Chr17:63355392 [GRCh38]
Chr17:61432753 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_001394998.1(TANC2):c.1405C>A (p.Gln469Lys) |
single nucleotide variant |
not provided [RCV005052629] |
Chr17:63314633 [GRCh38]
Chr17:61391994 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2509G>A (p.Val837Ile) |
single nucleotide variant |
not provided [RCV005052770] |
Chr17:63355317 [GRCh38]
Chr17:61432678 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3683A>G (p.Asp1228Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004969281] |
Chr17:63411604 [GRCh38]
Chr17:61488965 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.1810A>G (p.Arg604Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004969284] |
Chr17:63351252 [GRCh38]
Chr17:61428613 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17q23.2-24.1(chr17:58773496-62757149)x3 |
copy number gain |
not provided [RCV004819317] |
Chr17:58773496..62757149 [GRCh37]
Chr17:17q23.2-24.1 |
pathogenic |
| NM_001394998.1(TANC2):c.7C>T (p.Arg3Trp) |
single nucleotide variant |
not provided [RCV004823611] |
Chr17:63009566 [GRCh38]
Chr17:61086927 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.3702C>A (p.Asp1234Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004969277] |
Chr17:63411623 [GRCh38]
Chr17:61488984 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5941A>G (p.Ile1981Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004969278] |
Chr17:63421671 [GRCh38]
Chr17:61499032 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3812A>G (p.Tyr1271Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004969280] |
Chr17:63412044 [GRCh38]
Chr17:61489405 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.4808C>G (p.Pro1603Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004969289] |
Chr17:63420538 [GRCh38]
Chr17:61497899 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3749A>G (p.Tyr1250Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004969279] |
Chr17:63411670 [GRCh38]
Chr17:61489031 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1306G>C (p.Val436Leu) |
single nucleotide variant |
Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005023843] |
Chr17:63314534 [GRCh38]
Chr17:61391895 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1586A>G (p.Tyr529Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004969276] |
Chr17:63340111 [GRCh38]
Chr17:61417472 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2780C>T (p.Ala927Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004969282] |
Chr17:63388723 [GRCh38]
Chr17:61466084 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4464A>G (p.Ile1488Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004969286] |
Chr17:63420194 [GRCh38]
Chr17:61497555 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4292A>C (p.Asp1431Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004969288] |
Chr17:63420022 [GRCh38]
Chr17:61497383 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5344C>A (p.Pro1782Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004969283] |
Chr17:63421074 [GRCh38]
Chr17:61498435 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3173T>A (p.Val1058Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004969285] |
Chr17:63395864 [GRCh38]
Chr17:61473225 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.8G>A (p.Arg3Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004969287] |
Chr17:63009567 [GRCh38]
Chr17:61086928 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001394998.1(TANC2):c.6149A>G (p.Gln2050Arg) |
single nucleotide variant |
not provided [RCV005001902] |
Chr17:63421879 [GRCh38]
Chr17:61499240 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4412C>T (p.Pro1471Leu) |
single nucleotide variant |
not provided [RCV005054566] |
Chr17:63420142 [GRCh38]
Chr17:61497503 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5455C>G (p.Leu1819Val) |
single nucleotide variant |
not provided [RCV005063394] |
Chr17:63421185 [GRCh38]
Chr17:61498546 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.683G>A (p.Ser228Asn) |
single nucleotide variant |
not specified [RCV005236994] |
Chr17:63200871 [GRCh38]
Chr17:61278232 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5727_5732del (p.Val1910_Ser1911del) |
deletion |
not provided [RCV005250734] |
Chr17:63421456..63421461 [GRCh38]
Chr17:61498817..61498822 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2783C>T (p.Ser928Phe) |
single nucleotide variant |
not provided [RCV005250817] |
Chr17:63388726 [GRCh38]
Chr17:61466087 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2897A>G (p.Gln966Arg) |
single nucleotide variant |
not provided [RCV005141174] |
Chr17:63389390 [GRCh38]
Chr17:61466751 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.5699A>T (p.Tyr1900Phe) |
single nucleotide variant |
Abnormality of the musculoskeletal system [RCV005241611] |
Chr17:63421429 [GRCh38]
Chr17:61498790 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.2889A>G (p.Leu963=) |
single nucleotide variant |
not provided [RCV005245312] |
Chr17:63389382 [GRCh38]
Chr17:61466743 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.3198A>G (p.Gln1066=) |
single nucleotide variant |
not provided [RCV005245383] |
Chr17:63395889 [GRCh38]
Chr17:61473250 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.2301G>T (p.Met767Ile) |
single nucleotide variant |
not provided [RCV005243081] |
Chr17:63355109 [GRCh38]
Chr17:61432470 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.1041C>T (p.Ser347=) |
single nucleotide variant |
not provided [RCV005244630] |
Chr17:63267755 [GRCh38]
Chr17:61345116 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.528C>T (p.Val176=) |
single nucleotide variant |
not provided [RCV005244886] |
Chr17:63194085 [GRCh38]
Chr17:61271446 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.4773G>A (p.Pro1591=) |
single nucleotide variant |
not provided [RCV005244996] |
Chr17:63420503 [GRCh38]
Chr17:61497864 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5130C>T (p.Thr1710=) |
single nucleotide variant |
not provided [RCV005244997] |
Chr17:63420860 [GRCh38]
Chr17:61498221 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.5715C>T (p.Asp1905=) |
single nucleotide variant |
not provided [RCV005244998] |
Chr17:63421445 [GRCh38]
Chr17:61498806 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_001394998.1(TANC2):c.436G>A (p.Asp146Asn) |
single nucleotide variant |
not provided [RCV005242970] |
Chr17:63193993 [GRCh38]
Chr17:61271354 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_001394998.1(TANC2):c.3839C>G (p.Ala1280Gly) |
single nucleotide variant |
not provided [RCV005199833] |
Chr17:63412071 [GRCh38]
Chr17:61489432 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
