GRCh38/hg38 16p13.3(chr16:2326840-3487106)x3 |
copy number gain |
See cases [RCV000052394] |
Chr16:2326840..3487106 [GRCh38] Chr16:2376841..3537106 [GRCh37] Chr16:2316842..3477107 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 |
copy number gain |
See cases [RCV000052367] |
Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1 |
copy number loss |
See cases [RCV000053269] |
Chr16:2494804..3246579 [GRCh38] Chr16:2544805..3296579 [GRCh37] Chr16:2484806..3236580 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:2365461-2532960)x1 |
copy number loss |
See cases [RCV000138952] |
Chr16:2365461..2532960 [GRCh38] Chr16:2415462..2582961 [GRCh37] Chr16:2355463..2522962 [NCBI36] Chr16:16p13.3 |
pathogenic|uncertain significance |
GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1 |
copy number loss |
See cases [RCV000141237] |
Chr16:2406643..2782411 [GRCh38] Chr16:2456644..2832412 [GRCh37] Chr16:2396645..2772413 [NCBI36] Chr16:16p13.3 |
likely pathogenic |
GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1 |
copy number loss |
See cases [RCV000142469] |
Chr16:2365461..2764284 [GRCh38] Chr16:2415462..2814285 [GRCh37] Chr16:2355463..2754286 [NCBI36] Chr16:16p13.3 |
uncertain significance |
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 |
copy number gain |
See cases [RCV000052368] |
Chr16:29941..2560460 [GRCh38] Chr16:79941..2610461 [GRCh37] Chr16:19941..2550462 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 |
copy number gain |
See cases [RCV000052370] |
Chr16:46766..3214623 [GRCh38] Chr16:96766..3264623 [GRCh37] Chr16:36766..3204624 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 |
copy number gain |
See cases [RCV000133780] |
Chr16:46766..11525516 [GRCh38] Chr16:96766..11619372 [GRCh37] Chr16:36766..11526873 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 |
copy number gain |
See cases [RCV000136687] |
Chr16:46766..4247185 [GRCh38] Chr16:96766..4297186 [GRCh37] Chr16:36766..4237187 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 |
copy number gain |
See cases [RCV000139166] |
Chr16:43732..13326806 [GRCh38] Chr16:93732..13420663 [GRCh37] Chr16:33732..13328164 [NCBI36] Chr16:16p13.3-13.12 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1 |
copy number loss |
See cases [RCV000142177] |
Chr16:2304443..2676863 [GRCh38] Chr16:2354444..2726864 [GRCh37] Chr16:2294445..2666865 [NCBI36] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4 |
copy number gain |
See cases [RCV000240524] |
Chr16:2188712..2580690 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) |
copy number gain |
See cases [RCV000446555] |
Chr16:78801..9169448 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 |
copy number gain |
See cases [RCV000445663] |
Chr16:97133..5122974 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 |
copy number gain |
See cases [RCV000510815] |
Chr16:643377..3125125 [GRCh37] Chr16:16p13.3 |
uncertain significance |
maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 |
copy number gain |
See cases [RCV000511360] |
Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2 |
pathogenic |
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 |
copy number gain |
See cases [RCV000143710] |
Chr16:666662..15743104 [GRCh38] Chr16:716662..15836961 [GRCh37] Chr16:656663..15744462 [NCBI36] Chr16:16p13.3-13.11 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 |
copy number gain |
See cases [RCV000203445] |
Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207326] |
Chr16:1274615..19073133 [GRCh37] Chr16:16p13.3-12.3 |
uncertain significance |
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 |
copy number gain |
See cases [RCV000512194] |
Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 |
copy number gain |
not provided [RCV000683745] |
Chr16:1505184..4415346 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 |
copy number gain |
See cases [RCV000510698] |
Chr16:85880..9883129 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 |
copy number gain |
not provided [RCV000683743] |
Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 |
copy number gain |
not provided [RCV000683742] |
Chr16:85880..3216551 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3 |
copy number gain |
not provided [RCV000845878] |
Chr16:2070917..2592737 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:2527176-2581549)x1 |
copy number loss |
not provided [RCV000849402] |
Chr16:2527176..2581549 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3 |
copy number gain |
not provided [RCV002473837] |
Chr16:1942430..2653144 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 |
copy number gain |
not provided [RCV001537890] |
Chr16:84485..5251013 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1847662-2653144) |
copy number gain |
not specified [RCV002052502] |
Chr16:1847662..2653144 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(5971108_?)dup |
duplication |
Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] |
Chr16:256302..5971108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.404T>C (p.Leu135Pro) |
single nucleotide variant |
not provided [RCV002291390] |
Chr16:2519681 [GRCh38] Chr16:2569682 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 |
copy number gain |
See cases [RCV002292215] |
Chr16:111043..6627459 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.445G>A (p.Ala149Thr) |
single nucleotide variant |
not provided [RCV002306034] |
Chr16:2519722 [GRCh38] Chr16:2569723 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.79G>A (p.Ala27Thr) |
single nucleotide variant |
not provided [RCV002308963] |
Chr16:2514182 [GRCh38] Chr16:2564183 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.295G>A (p.Val99Met) |
single nucleotide variant |
not provided [RCV002462369] |
Chr16:2519572 [GRCh38] Chr16:2569573 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.294dup (p.Val99fs) |
duplication |
not provided [RCV003222851] |
Chr16:2519570..2519571 [GRCh38] Chr16:2569571..2569572 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.424G>T (p.Gly142Cys) |
single nucleotide variant |
See cases [RCV003225710] |
Chr16:2519701 [GRCh38] Chr16:2569702 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
GRCh37/hg19 16p13.3(chr16:2564105-2647768)x1 |
copy number loss |
not provided [RCV003222892] |
Chr16:2564105..2647768 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.283G>C (p.Ala95Pro) |
single nucleotide variant |
EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY [RCV003320496] |
Chr16:2519560 [GRCh38] Chr16:2569561 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.64G>A (p.Ala22Thr) |
single nucleotide variant |
Epilepsy, early-onset, 3, with or without developmental delay [RCV003320499] |
Chr16:2514167 [GRCh38] Chr16:2564168 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.361_373del (p.Thr121fs) |
deletion |
Epilepsy, early-onset, 3, with or without developmental delay [RCV003320500] |
Chr16:2519636..2519648 [GRCh38] Chr16:2569637..2569649 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.134_135del (p.Ser45fs) |
deletion |
EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY [RCV003320494] |
Chr16:2519271..2519272 [GRCh38] Chr16:2569272..2569273 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.448C>T (p.Leu150Phe) |
single nucleotide variant |
EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY [RCV003320498]|not provided [RCV004723264] |
Chr16:2519725 [GRCh38] Chr16:2569726 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:2480793-2590012)x1 |
copy number loss |
not provided [RCV003483257] |
Chr16:2480793..2590012 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 |
copy number gain |
not provided [RCV003485080] |
Chr16:1054247..2592737 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_001694.4(ATP6V0C):c.283G>A (p.Ala95Thr) |
single nucleotide variant |
Childhood-onset epilepsy syndrome [RCV004527566] |
Chr16:2519560 [GRCh38] Chr16:2569561 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_001694.4(ATP6V0C):c.395T>A (p.Ile132Asn) |
single nucleotide variant |
not provided [RCV004592259] |
Chr16:2519672 [GRCh38] Chr16:2569673 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NC_000016.9:g.(?_339420)_(3767509_?)dup |
duplication |
Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] |
Chr16:339420..3767509 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.158T>G (p.Met53Arg) |
single nucleotide variant |
not provided [RCV004722210] |
Chr16:2519296 [GRCh38] Chr16:2569297 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_001694.4(ATP6V0C):c.350G>A (p.Gly117Asp) |
single nucleotide variant |
not provided [RCV004763921] |
|
uncertain significance |
NM_001694.4(ATP6V0C):c.385G>A (p.Val129Met) |
single nucleotide variant |
not provided [RCV004772753] |
Chr16:2519662 [GRCh38] Chr16:2569663 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:2229815-2582030)x4 |
copy number gain |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome [RCV004767715] |
Chr16:2229815..2582030 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_001694.4(ATP6V0C):c.46G>A (p.Val16Ile) |
single nucleotide variant |
not provided [RCV004769789] |
Chr16:2514149 [GRCh38] Chr16:2564150 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.101C>G (p.Thr34Arg) |
single nucleotide variant |
not provided [RCV004771955] |
Chr16:2519239 [GRCh38] Chr16:2569240 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:2510603-2581022)x3 |
copy number gain |
not provided [RCV000751529] |
Chr16:2510603..2581022 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:2516738-2667855)x1 |
copy number loss |
not provided [RCV000751531] |
Chr16:2516738..2667855 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:109978-4316797) |
copy number gain |
Chromosome 16p13.3 duplication syndrome [RCV000767731] |
Chr16:109978..4316797 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.172C>G (p.Pro58Ala) |
single nucleotide variant |
not provided [RCV001090245] |
Chr16:2519310 [GRCh38] Chr16:2569311 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.467A>T (p.Ter156Leu) |
single nucleotide variant |
EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY [RCV003320483]|Seizure [RCV001254940] |
Chr16:2519744 [GRCh38] Chr16:2569745 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 |
copy number gain |
not provided [RCV001259749] |
Chr16:85880..5249457 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.412G>C (p.Ala138Pro) |
single nucleotide variant |
not provided [RCV001300995] |
Chr16:2519689 [GRCh38] Chr16:2569690 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 |
copy number gain |
not provided [RCV001827737] |
Chr16:1830141..2592737 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(4852572_?)dup |
duplication |
Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] |
Chr16:256302..4852572 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.80-1G>T |
single nucleotide variant |
not provided [RCV004784420] |
Chr16:2519217 [GRCh38] Chr16:2569218 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.409T>C (p.Phe137Leu) |
single nucleotide variant |
EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY [RCV003320497] |
Chr16:2519686 [GRCh38] Chr16:2569687 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.274C>T (p.Gln92Ter) |
single nucleotide variant |
not provided [RCV002461711] |
Chr16:2519551 [GRCh38] Chr16:2569552 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.55G>T (p.Ala19Ser) |
single nucleotide variant |
not specified [RCV004155973] |
Chr16:2514158 [GRCh38] Chr16:2564159 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.253A>T (p.Ser85Cys) |
single nucleotide variant |
not specified [RCV004154339] |
Chr16:2519391 [GRCh38] Chr16:2569392 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.260_263+11del |
deletion |
Epilepsy, early-onset, 3, with or without developmental delay [RCV003320501] |
Chr16:2519398..2519412 [GRCh38] Chr16:2569399..2569413 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.188G>C (p.Gly63Ala) |
single nucleotide variant |
EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY [RCV003320495]|not provided [RCV004765799] |
Chr16:2519326 [GRCh38] Chr16:2569327 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.377G>C (p.Arg126Pro) |
single nucleotide variant |
Epilepsy, early-onset, 3, with or without developmental delay [RCV003458949] |
Chr16:2519654 [GRCh38] Chr16:2569655 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_2550259)_(3154076_?)del |
deletion |
Developmental and epileptic encephalopathy, 1 [RCV004582752] |
Chr16:2550259..3154076 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001694.4(ATP6V0C):c.425G>A (p.Gly142Asp) |
single nucleotide variant |
not provided [RCV004590854] |
Chr16:2519702 [GRCh38] Chr16:2569703 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_001694.4(ATP6V0C):c.187G>A (p.Gly63Ser) |
single nucleotide variant |
not specified [RCV004680304] |
Chr16:2519325 [GRCh38] Chr16:2569326 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001694.4(ATP6V0C):c.376C>T (p.Arg126Ter) |
single nucleotide variant |
Epilepsy, early-onset, 3, with or without developmental delay [RCV004759476] |
|
likely pathogenic |