NM_021072.4(HCN1):c.1521C>T (p.Ala507=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000526363]|Inborn genetic diseases [RCV002395348] |
Chr5:45303696 [GRCh38] Chr5:45303798 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.203GCG[10] (p.Gly72_Gly74dup) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000545196]|Inborn genetic diseases [RCV002316537]|not provided [RCV001788280]|not specified [RCV000173513] |
Chr5:45695870..45695871 [GRCh38] Chr5:45695972..45695973 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.259C>T (p.Pro87Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000547258]|Inborn genetic diseases [RCV002316539] |
Chr5:45695835 [GRCh38] Chr5:45695937 [GRCh37] Chr5:5p12 |
benign|likely benign|uncertain significance |
NM_021072.4(HCN1):c.1662A>T (p.Arg554=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001450201] |
Chr5:45267210 [GRCh38] Chr5:45267312 [GRCh37] Chr5:5p12 |
likely benign |
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 |
copy number gain |
See cases [RCV000051810] |
Chr5:54839..45649861 [GRCh38] Chr5:54954..45649963 [GRCh37] Chr5:107954..45685720 [NCBI36] Chr5:5p15.33-12 |
pathogenic |
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] |
Chr5:26593632..50288555 [GRCh38] Chr5:26593741..49584389 [GRCh37] Chr5:26629498..49620146 [NCBI36] Chr5:5p14.1-q11.1 |
pathogenic |
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 |
copy number gain |
See cases [RCV000051835] |
Chr5:35700480..45260029 [GRCh38] Chr5:35700582..45260131 [GRCh37] Chr5:35736339..45295888 [NCBI36] Chr5:5p13.2-12 |
pathogenic |
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 |
copy number gain |
See cases [RCV000051836] |
Chr5:36374107..51103841 [GRCh38] Chr5:36374209..50399675 [GRCh37] Chr5:36409966..50435432 [NCBI36] Chr5:5p13.2-q11.1 |
pathogenic |
GRCh38/hg38 5p12-11(chr5:45506234-46114984)x3 |
copy number gain |
See cases [RCV000051708] |
Chr5:45506234..46114984 [GRCh38] Chr5:45506336..46115086 [GRCh37] Chr5:45542093..46150843 [NCBI36] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) |
microsatellite |
Developmental and epileptic encephalopathy, 24 [RCV000987523]|Early infantile epileptic encephalopathy with suppression bursts [RCV001080821]|Inborn genetic diseases [RCV002312704]|not provided [RCV000513768]|not specified [RCV000173510] |
Chr5:45695871..45695879 [GRCh38] Chr5:45695973..45695981 [GRCh37] Chr5:5p12 |
benign|likely benign |
GRCh38/hg38 5p12(chr5:45183939-45972894)x1 |
copy number loss |
See cases [RCV000054135] |
Chr5:45183939..45972894 [GRCh38] Chr5:45184041..45972996 [GRCh37] Chr5:45219798..46008753 [NCBI36] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.2496G>A (p.Arg832=) |
single nucleotide variant |
Malignant melanoma [RCV000066946] |
Chr5:45262098 [GRCh38] Chr5:45262200 [GRCh37] Chr5:45297957 [NCBI36] Chr5:5p12 |
not provided |
NM_021072.3(HCN1):c.1443T>G (p.Pro481=) |
single nucleotide variant |
Malignant melanoma [RCV000066947] |
Chr5:45303774 [GRCh38] Chr5:45303876 [GRCh37] Chr5:45339633 [NCBI36] Chr5:5p12 |
not provided |
NM_021072.3(HCN1):c.861G>A (p.Met287Ile) |
single nucleotide variant |
Malignant melanoma [RCV000066948] |
Chr5:45461996 [GRCh38] Chr5:45462098 [GRCh37] Chr5:45497855 [NCBI36] Chr5:5p12 |
not provided |
NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001080810]|Inborn genetic diseases [RCV002311699]|not provided [RCV000711880]|not specified [RCV000082059] |
Chr5:45695885..45695893 [GRCh38] Chr5:45695987..45695995 [GRCh37] Chr5:5p12 |
benign |
NM_021072.3(HCN1):c.1618+12896C>A |
single nucleotide variant |
Lung cancer [RCV000096000] |
Chr5:45290703 [GRCh38] Chr5:45290805 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.1378-18367G>C |
single nucleotide variant |
Lung cancer [RCV000096001] |
Chr5:45322206 [GRCh38] Chr5:45322308 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.1012-26339A>C |
single nucleotide variant |
Lung cancer [RCV000096002] |
Chr5:45423049 [GRCh38] Chr5:45423151 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.1011+19176C>A |
single nucleotide variant |
Lung cancer [RCV000096003] |
Chr5:45442670 [GRCh38] Chr5:45442772 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.850-46968G>T |
single nucleotide variant |
Lung cancer [RCV000096005] |
Chr5:45508975 [GRCh38] Chr5:45509077 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.850-47443G>T |
single nucleotide variant |
Lung cancer [RCV000096006] |
Chr5:45509450 [GRCh38] Chr5:45509552 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.849+80119T>C |
single nucleotide variant |
Lung cancer [RCV000096007] |
Chr5:45565066 [GRCh38] Chr5:45565168 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.849+25890G>T |
single nucleotide variant |
Lung cancer [RCV000096008] |
Chr5:45619295 [GRCh38] Chr5:45619397 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.849+20082G>C |
single nucleotide variant |
Lung cancer [RCV000096009] |
Chr5:45625103 [GRCh38] Chr5:45625205 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.849+944T>C |
single nucleotide variant |
Lung cancer [RCV000096010] |
Chr5:45644241 [GRCh38] Chr5:45644343 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.426-3625A>G |
single nucleotide variant |
Lung cancer [RCV000096011] |
Chr5:45649233 [GRCh38] Chr5:45649335 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.426-20250G>T |
single nucleotide variant |
Lung cancer [RCV000096012] |
Chr5:45665858 [GRCh38] Chr5:45665960 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.528T>C (p.Ile176=) |
single nucleotide variant |
not provided [RCV000122567] |
Chr5:45645506 [GRCh38] Chr5:45645608 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1216C>G (p.Gln406Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001367508] |
Chr5:45396506 [GRCh38] Chr5:45396608 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1783+7dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000467601]|not provided [RCV001535160]|not specified [RCV000179968] |
Chr5:45267081..45267082 [GRCh38] Chr5:45267183..45267184 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV002500518]|Early infantile epileptic encephalopathy with suppression bursts [RCV001082812]|Inborn genetic diseases [RCV002317063]|not provided [RCV000457159]|not specified [RCV000180359] |
Chr5:45262422 [GRCh38] Chr5:45262524 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV003227692]|Early infantile epileptic encephalopathy with suppression bursts [RCV000469190]|Inborn genetic diseases [RCV002313025]|not provided [RCV001618325]|not specified [RCV000173511] |
Chr5:45695954 [GRCh38] Chr5:45696056 [GRCh37] Chr5:5p12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021072.4(HCN1):c.336C>A (p.Arg112=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636559]|Inborn genetic diseases [RCV002312705]|not provided [RCV000173512] |
Chr5:45695758 [GRCh38] Chr5:45695860 [GRCh37] Chr5:5p12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021072.3(HCN1):c.223_224insGCGGCGGCG (p.Gly74_Glu75insGlyGlyGly) |
insertion |
not specified [RCV000173513] |
Chr5:45695870..45695871 [GRCh38] Chr5:45695972..45695973 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.935A>T (p.Asp312Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001312737] |
Chr5:45461922 [GRCh38] Chr5:45462024 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 |
copy number gain |
See cases [RCV001310288] |
Chr5:29081195..45294031 [GRCh37] Chr5:5p13.3-12 |
pathogenic |
NM_021072.4(HCN1):c.1201G>C (p.Asp401His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000128458]|not specified [RCV001169921] |
Chr5:45396521 [GRCh38] Chr5:45396623 [GRCh37] Chr5:5p12 |
pathogenic|uncertain significance |
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000128459]|Early infantile epileptic encephalopathy with suppression bursts [RCV001054783]|Generalized epilepsy with febrile seizures plus, type 10 [RCV003448268] |
Chr5:45695795 [GRCh38] Chr5:45695897 [GRCh37] Chr5:5p12 |
pathogenic|likely pathogenic |
NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000128460]|not provided [RCV000486307] |
Chr5:45645220 [GRCh38] Chr5:45645322 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000128461] |
Chr5:45461967 [GRCh38] Chr5:45462069 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000128462] |
Chr5:45645199 [GRCh38] Chr5:45645301 [GRCh37] Chr5:5p12 |
pathogenic|likely pathogenic |
GRCh38/hg38 5p12-11(chr5:45414481-46114984)x3 |
copy number gain |
See cases [RCV000135799] |
Chr5:45414481..46114984 [GRCh38] Chr5:45414583..46115086 [GRCh37] Chr5:45450340..46150843 [NCBI36] Chr5:5p12-11 |
uncertain significance |
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 |
copy number gain |
See cases [RCV000135453] |
Chr5:49978..46114984 [GRCh38] Chr5:50093..46115086 [GRCh37] Chr5:103093..46150843 [NCBI36] Chr5:5p15.33-11 |
pathogenic |
GRCh38/hg38 5p12(chr5:45566861-45872726)x3 |
copy number gain |
See cases [RCV000135970] |
Chr5:45566861..45872726 [GRCh38] Chr5:45566963..45872828 [GRCh37] Chr5:45602720..45908585 [NCBI36] Chr5:5p12 |
uncertain significance |
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 |
copy number gain |
See cases [RCV000137302] |
Chr5:35201559..61903141 [GRCh38] Chr5:35201661..61198968 [GRCh37] Chr5:35237418..61234725 [NCBI36] Chr5:5p13.2-q12.1 |
pathogenic |
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 |
copy number gain |
See cases [RCV000138021] |
Chr5:45566861..56506493 [GRCh38] Chr5:45566963..55802320 [GRCh37] Chr5:45602720..55838077 [NCBI36] Chr5:5p12-q11.2 |
uncertain significance |
GRCh38/hg38 5p12(chr5:45003649-45362262)x1 |
copy number loss |
See cases [RCV000137964] |
Chr5:45003649..45362262 [GRCh38] Chr5:45003751..45362364 [GRCh37] Chr5:45039508..45398121 [NCBI36] Chr5:5p12 |
uncertain significance |
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 |
copy number gain |
See cases [RCV000138780] |
Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3 |
pathogenic |
GRCh38/hg38 5p12-11(chr5:45273484-46114984)x3 |
copy number gain |
See cases [RCV000138855] |
Chr5:45273484..46114984 [GRCh38] Chr5:45273586..46115086 [GRCh37] Chr5:45309343..46150843 [NCBI36] Chr5:5p12-11 |
uncertain significance|conflicting data from submitters |
GRCh38/hg38 5p12(chr5:45678461-46086772)x3 |
copy number gain |
See cases [RCV000140374] |
Chr5:45678461..46086772 [GRCh38] Chr5:45678563..46086874 [GRCh37] Chr5:45714320..46122631 [NCBI36] Chr5:5p12 |
likely benign |
GRCh38/hg38 5p12-11(chr5:45647519-46389237)x3 |
copy number gain |
See cases [RCV000142252] |
Chr5:45647519..46389237 [GRCh38] Chr5:45647621..46389339 [GRCh37] Chr5:45683378..46425096 [NCBI36] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001085415]|Inborn genetic diseases [RCV002312993]|not provided [RCV000711879]|not specified [RCV000153349] |
Chr5:45262797 [GRCh38] Chr5:45262899 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.2428G>C (p.Glu810Gln) |
single nucleotide variant |
not provided [RCV000153348] |
Chr5:45262166 [GRCh38] Chr5:45262268 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.990G>C (p.Trp330Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001852189]|not provided [RCV000177323] |
Chr5:45461867 [GRCh38] Chr5:45461969 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 |
copy number gain |
See cases [RCV000239779] |
Chr5:13461664..46098927 [GRCh37] Chr5:5p15.2-12 |
pathogenic |
NC_000005.9:g.(?_45396574)_(45696215_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000546295] |
Chr5:45396472..45696113 [GRCh38] Chr5:45396574..45696215 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1936A>T (p.Thr646Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002316072] |
Chr5:45262658 [GRCh38] Chr5:45262760 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2303A>C (p.His768Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002316077] |
Chr5:45262291 [GRCh38] Chr5:45262393 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12(chr5:45519525-45693058)x1 |
copy number loss |
not provided [RCV000762749] |
Chr5:45519525..45693058 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001079666]|Inborn genetic diseases [RCV002311361]|not provided [RCV000440326]|not specified [RCV000592162] |
Chr5:45695871..45695876 [GRCh38] Chr5:45695973..45695978 [GRCh37] Chr5:5p12 |
benign|likely benign|uncertain significance |
NM_021072.4(HCN1):c.1338G>A (p.Glu446=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000226505] |
Chr5:45353139 [GRCh38] Chr5:45353241 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2495G>A (p.Arg832Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808238]|not provided [RCV000519557] |
Chr5:45262099 [GRCh38] Chr5:45262201 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1377+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV000622657] |
Chr5:45353099 [GRCh38] Chr5:45353201 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.200_223del (p.Gly67_Gly74del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000551860]|Inborn genetic diseases [RCV002316536] |
Chr5:45695871..45695894 [GRCh38] Chr5:45695973..45695996 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.3(HCN1):c.-25_1230+?dup1255 |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000240054] |
Chr5:45396492..45696118 [GRCh38] Chr5:45396594..45696220 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45262003)_(45262932_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000529270] |
Chr5:45261901..45262830 [GRCh38] Chr5:45262003..45262932 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.3(HCN1):c.223_224insGCG (p.Gly74_Glu75insGly) |
insertion |
not specified [RCV000380928] |
Chr5:45695870..45695871 [GRCh38] Chr5:45695972..45695973 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.305T>A (p.Leu102Gln) |
single nucleotide variant |
not provided [RCV000383662] |
Chr5:45695789 [GRCh38] Chr5:45695891 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.270G>A (p.Gln90=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002519180]|Inborn genetic diseases [RCV002429227]|not provided [RCV000288446] |
Chr5:45695824 [GRCh38] Chr5:45695926 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.255G>T (p.Glu85Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001294379]|not provided [RCV000288763] |
Chr5:45695839 [GRCh38] Chr5:45695941 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.242T>A (p.Phe81Tyr) |
single nucleotide variant |
not provided [RCV000292789] |
Chr5:45695852 [GRCh38] Chr5:45695954 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.135C>T (p.Gly45=) |
single nucleotide variant |
not provided [RCV000297880] |
Chr5:45695959 [GRCh38] Chr5:45696061 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12-q11.1(chr5:45650231-49447301)x3 |
copy number gain |
MISSED ABORTION [RCV002282733] |
Chr5:45650231..49447301 [GRCh37] Chr5:5p12-q11.1 |
uncertain significance |
NM_021072.4(HCN1):c.185A>T (p.Asp62Val) |
single nucleotide variant |
not provided [RCV000585338] |
Chr5:45695909 [GRCh38] Chr5:45696011 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1044A>C (p.Ala348=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002532504]|not provided [RCV000592433] |
Chr5:45396678 [GRCh38] Chr5:45396780 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1619-3T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001089088]|Inborn genetic diseases [RCV002317344]|not provided [RCV000592953] |
Chr5:45267256 [GRCh38] Chr5:45267358 [GRCh37] Chr5:5p12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021072.4(HCN1):c.1336G>A (p.Glu446Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000550634] |
Chr5:45353141 [GRCh38] Chr5:45353243 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.210C>T (p.Gly70=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000532719] |
Chr5:45695884 [GRCh38] Chr5:45695986 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.24C>T (p.Asn8=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000529962]|Inborn genetic diseases [RCV002431578]|not provided [RCV001726222] |
Chr5:45696070 [GRCh38] Chr5:45696172 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2008G>A (p.Ala670Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001089002]|not provided [RCV000591084] |
Chr5:45262586 [GRCh38] Chr5:45262688 [GRCh37] Chr5:5p12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021072.4(HCN1):c.2019G>A (p.Leu673=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000767990]|Developmental and epileptic encephalopathy, 24 [RCV003224408] |
Chr5:45262575 [GRCh38] Chr5:45262677 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.240C>A (p.Gly80=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001083080]|Inborn genetic diseases [RCV002458337]|not provided [RCV000728680] |
Chr5:45695854 [GRCh38] Chr5:45695956 [GRCh37] Chr5:5p12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021072.4(HCN1):c.192_215dup (p.Gly67_Gly74dup) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000539382] |
Chr5:45695878..45695879 [GRCh38] Chr5:45695980..45695981 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2227C>G (p.Pro743Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000558459]|Inborn genetic diseases [RCV002316538] |
Chr5:45262367 [GRCh38] Chr5:45262469 [GRCh37] Chr5:5p12 |
benign|likely benign|uncertain significance |
NM_021072.4(HCN1):c.1710C>T (p.Asn570=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000526041]|Inborn genetic diseases [RCV002404413]|not specified [RCV000733908] |
Chr5:45267162 [GRCh38] Chr5:45267264 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.913A>T (p.Met305Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001637015]|not provided [RCV000444585] |
Chr5:45461944 [GRCh38] Chr5:45462046 [GRCh37] Chr5:5p12 |
pathogenic|likely pathogenic |
GRCh37/hg19 5p12-11(chr5:45383389-46246647)x3 |
copy number gain |
See cases [RCV000445991] |
Chr5:45383389..46246647 [GRCh37] Chr5:5p12-11 |
likely benign |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p12(chr5:45273586-46098868)x3 |
copy number gain |
See cases [RCV000448708] |
Chr5:45273586..46098868 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000585842]|Epileptic encephalopathy [RCV000416966] |
Chr5:45396550 [GRCh38] Chr5:45396652 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000786046]|Epileptic encephalopathy [RCV000417011] |
Chr5:45645575 [GRCh38] Chr5:45645677 [GRCh37] Chr5:5p12 |
pathogenic|likely pathogenic |
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000462927]|Inborn genetic diseases [RCV002318494]|not provided [RCV000513246] |
Chr5:45695970 [GRCh38] Chr5:45696072 [GRCh37] Chr5:5p12 |
benign|likely benign|uncertain significance |
NM_021072.4(HCN1):c.1783+10T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001454592] |
Chr5:45267079 [GRCh38] Chr5:45267181 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1952C>G (p.Ser651Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000463713] |
Chr5:45262642 [GRCh38] Chr5:45262744 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2561G>C (p.Arg854Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000467838] |
Chr5:45262033 [GRCh38] Chr5:45262135 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.726A>C (p.Gly242=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000456707]|Inborn genetic diseases [RCV002383850]|not provided [RCV001815394] |
Chr5:45645308 [GRCh38] Chr5:45645410 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1170C>T (p.Val390=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000464225] |
Chr5:45396552 [GRCh38] Chr5:45396654 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2382C>T (p.Pro794=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001444352]|Inborn genetic diseases [RCV002451151] |
Chr5:45262212 [GRCh38] Chr5:45262314 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000475843]|Inborn genetic diseases [RCV002429562]|not provided [RCV003129866]|not specified [RCV000380928] |
Chr5:45695870..45695871 [GRCh38] Chr5:45695972..45695973 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2009C>A (p.Ala670Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000472092]|not provided [RCV003424007] |
Chr5:45262585 [GRCh38] Chr5:45262687 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.159C>G (p.His53Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000457427]|Inborn genetic diseases [RCV002313153]|not provided [RCV001764368]|not specified [RCV000734431] |
Chr5:45695935 [GRCh38] Chr5:45696037 [GRCh37] Chr5:5p12 |
benign|likely benign|uncertain significance |
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 |
copy number gain |
See cases [RCV000512120] |
Chr5:24281195..46389339 [GRCh37] Chr5:5p14.2-11 |
likely pathogenic |
NM_021072.4(HCN1):c.1041C>T (p.Tyr347=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000472693]|Inborn genetic diseases [RCV002313183]|not provided [RCV002056716] |
Chr5:45396681 [GRCh38] Chr5:45396783 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000476818]|Inborn genetic diseases [RCV002418432]|Intellectual disability [RCV001252506]|not provided [RCV001729605]|not specified [RCV001729606] |
Chr5:45695884..45695885 [GRCh38] Chr5:45695986..45695987 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.128C>T (p.Pro43Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000477132] |
Chr5:45695966 [GRCh38] Chr5:45696068 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
GRCh37/hg19 5p12-11(chr5:45593654-46389339)x3 |
copy number gain |
See cases [RCV000512132] |
Chr5:45593654..46389339 [GRCh37] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.558C>G (p.Phe186Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000469716] |
Chr5:45645476 [GRCh38] Chr5:45645578 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.69C>T (p.Ala23=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000469745] |
Chr5:45696025 [GRCh38] Chr5:45696127 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.68C>T (p.Ala23Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000462613] |
Chr5:45696026 [GRCh38] Chr5:45696128 [GRCh37] Chr5:5p12 |
benign|uncertain significance |
NM_021072.4(HCN1):c.201T>C (p.Gly67=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000462702] |
Chr5:45695893 [GRCh38] Chr5:45695995 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1896G>T (p.Met632Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000531814] |
Chr5:45262698 [GRCh38] Chr5:45262800 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p12-11(chr5:45362150-46389339)x3 |
copy number gain |
See cases [RCV000510845] |
Chr5:45362150..46389339 [GRCh37] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.158A>C (p.His53Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636366] |
Chr5:45695936 [GRCh38] Chr5:45696038 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1980G>A (p.Met660Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636396]|not provided [RCV001547515] |
Chr5:45262614 [GRCh38] Chr5:45262716 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.25T>C (p.Ser9Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636488] |
Chr5:45696069 [GRCh38] Chr5:45696171 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2445C>A (p.Ile815=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636496]|Inborn genetic diseases [RCV002458023] |
Chr5:45262149 [GRCh38] Chr5:45262251 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1152C>A (p.Thr384=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636506] |
Chr5:45396570 [GRCh38] Chr5:45396672 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1353T>C (p.Asn451=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636519] |
Chr5:45353124 [GRCh38] Chr5:45353226 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.261C>G (p.Pro87=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636522]|Inborn genetic diseases [RCV002438687] |
Chr5:45695833 [GRCh38] Chr5:45695935 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.30G>T (p.Ser10=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636530]|Inborn genetic diseases [RCV002325230] |
Chr5:45696064 [GRCh38] Chr5:45696166 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1971C>T (p.Thr657=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636585] |
Chr5:45262623 [GRCh38] Chr5:45262725 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1643G>A (p.Arg548His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000538794] |
Chr5:45267229 [GRCh38] Chr5:45267331 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.701A>T (p.Tyr234Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000535446] |
Chr5:45645333 [GRCh38] Chr5:45645435 [GRCh37] Chr5:5p12 |
pathogenic|likely pathogenic|uncertain significance |
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) |
deletion |
Developmental and epileptic encephalopathy, 24 [RCV000590947] |
Chr5:45695680 [GRCh38] Chr5:45695782 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.256G>A (p.Gly86Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001484249] |
Chr5:45695838 [GRCh38] Chr5:45695940 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2060C>A (p.Thr687Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636315] |
Chr5:45262534 [GRCh38] Chr5:45262636 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2047C>A (p.Pro683Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636334] |
Chr5:45262547 [GRCh38] Chr5:45262649 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1783+4C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001079684]|Inborn genetic diseases [RCV002314973]|not provided [RCV000555759] |
Chr5:45267085 [GRCh38] Chr5:45267187 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.616A>G (p.Ile206Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000559668] |
Chr5:45645418 [GRCh38] Chr5:45645520 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1182C>T (p.Thr394=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000538160] |
Chr5:45396540 [GRCh38] Chr5:45396642 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1783+4C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000538466] |
Chr5:45267085 [GRCh38] Chr5:45267187 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12-11(chr5:45665996-46199398)x1 |
copy number loss |
See cases [RCV000512447] |
Chr5:45665996..46199398 [GRCh37] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.2427C>T (p.Gly809=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636280] |
Chr5:45262167 [GRCh38] Chr5:45262269 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.720A>T (p.Glu240Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636300] |
Chr5:45645314 [GRCh38] Chr5:45645416 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.239G>A (p.Gly80Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001203205]|not provided [RCV000594451] |
Chr5:45695855 [GRCh38] Chr5:45695957 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1522G>A (p.Val508Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636328]|not provided [RCV001815359] |
Chr5:45303695 [GRCh38] Chr5:45303797 [GRCh37] Chr5:5p12 |
pathogenic|uncertain significance |
NM_021072.4(HCN1):c.1551C>T (p.His517=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636466] |
Chr5:45303666 [GRCh38] Chr5:45303768 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.921C>T (p.Leu307=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636481] |
Chr5:45461936 [GRCh38] Chr5:45462038 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.426-7G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636489] |
Chr5:45645615 [GRCh38] Chr5:45645717 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2346A>G (p.Glu782=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636490] |
Chr5:45262248 [GRCh38] Chr5:45262350 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1212G>A (p.Arg404=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001409952] |
Chr5:45396510 [GRCh38] Chr5:45396612 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2259G>A (p.Pro753=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636598] |
Chr5:45262335 [GRCh38] Chr5:45262437 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.864A>G (p.Thr288=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001865683]|not provided [RCV000513010] |
Chr5:45461993 [GRCh38] Chr5:45462095 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.781A>G (p.Lys261Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV000623856] |
Chr5:45645253 [GRCh38] Chr5:45645355 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.488G>T (p.Gly163Val) |
single nucleotide variant |
not provided [RCV000659014] |
Chr5:45645546 [GRCh38] Chr5:45645648 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2251C>G (p.Pro751Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001405500]|Inborn genetic diseases [RCV002314476] |
Chr5:45262343 [GRCh38] Chr5:45262445 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1378-4T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001862020]|Inborn genetic diseases [RCV002316071] |
Chr5:45303843 [GRCh38] Chr5:45303945 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2560C>A (p.Arg854=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001405887]|Inborn genetic diseases [RCV002424579] |
Chr5:45262034 [GRCh38] Chr5:45262136 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2145A>G (p.Arg715=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316772] |
Chr5:45262449 [GRCh38] Chr5:45262551 [GRCh37] Chr5:5p12 |
likely benign |
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 |
copy number gain |
not provided [RCV000682542] |
Chr5:27227243..45685844 [GRCh37] Chr5:5p14.1-12 |
pathogenic |
NM_021072.4(HCN1):c.2075C>G (p.Ala692Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702803] |
Chr5:45262519 [GRCh38] Chr5:45262621 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000764610]|Early infantile epileptic encephalopathy with suppression bursts [RCV000699512]|not provided [RCV001662772] |
Chr5:45262204 [GRCh38] Chr5:45262306 [GRCh37] Chr5:5p12 |
benign|uncertain significance |
NM_021072.4(HCN1):c.2041C>T (p.Pro681Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001471101] |
Chr5:45262553 [GRCh38] Chr5:45262655 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1404A>G (p.Lys468=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314399] |
Chr5:45303813 [GRCh38] Chr5:45303915 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1900C>A (p.Gln634Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000704607] |
Chr5:45262694 [GRCh38] Chr5:45262796 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) |
duplication |
Developmental and epileptic encephalopathy, 24 [RCV003227832]|Early infantile epileptic encephalopathy with suppression bursts [RCV000695103]|Inborn genetic diseases [RCV002317921]|not provided [RCV002253568] |
Chr5:45695887..45695888 [GRCh38] Chr5:45695989..45695990 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV000714812] |
Chr5:45267119 [GRCh38] Chr5:45267221 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1570A>G (p.Thr524Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688463] |
Chr5:45303647 [GRCh38] Chr5:45303749 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) |
microsatellite |
Developmental and epileptic encephalopathy, 24 [RCV000987522]|Developmental and epileptic encephalopathy, 24 [RCV003227840]|Early infantile epileptic encephalopathy with suppression bursts [RCV000705338]|Inborn genetic diseases [RCV002424712]|not provided [RCV001766556] |
Chr5:45695871..45695873 [GRCh38] Chr5:45695973..45695975 [GRCh37] Chr5:5p12 |
benign|likely benign|uncertain significance |
NM_021072.4(HCN1):c.828A>G (p.Arg276=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001515827] |
Chr5:45645206 [GRCh38] Chr5:45645308 [GRCh37] Chr5:5p12 |
benign|uncertain significance |
NM_021072.4(HCN1):c.1343A>G (p.Asn448Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000706719] |
Chr5:45353134 [GRCh38] Chr5:45353236 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.280A>G (p.Met94Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702096] |
Chr5:45695814 [GRCh38] Chr5:45695916 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2105C>T (p.Ala702Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702758] |
Chr5:45262489 [GRCh38] Chr5:45262591 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1139T>C (p.Ile380Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001465832] |
Chr5:45396583 [GRCh38] Chr5:45396685 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1141G>A (p.Val381Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000696511] |
Chr5:45396581 [GRCh38] Chr5:45396683 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2635C>A (p.Pro879Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034308]|Inborn genetic diseases [RCV002312350] |
Chr5:45261959 [GRCh38] Chr5:45262061 [GRCh37] Chr5:5p12 |
benign|uncertain significance |
NM_021072.4(HCN1):c.1626C>T (p.Cys542=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000861954]|Inborn genetic diseases [RCV002314405] |
Chr5:45267246 [GRCh38] Chr5:45267348 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.1143C>T (p.Val381=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000921764]|Inborn genetic diseases [RCV002313559] |
Chr5:45396579 [GRCh38] Chr5:45396681 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.199G>C (p.Gly67Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002313570] |
Chr5:45695895 [GRCh38] Chr5:45695997 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.685T>A (p.Ser229Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002318669] |
Chr5:45645349 [GRCh38] Chr5:45645451 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1578C>A (p.Ser526=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002060929]|Inborn genetic diseases [RCV002318705]|not provided [RCV003334021] |
Chr5:45303639 [GRCh38] Chr5:45303741 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1696G>A (p.Val566Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002533056]|Inborn genetic diseases [RCV002318180] |
Chr5:45267176 [GRCh38] Chr5:45267278 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.451A>G (p.Ile151Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001868371]|Inborn genetic diseases [RCV002318199]|not provided [RCV002260665] |
Chr5:45645583 [GRCh38] Chr5:45645685 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.734C>T (p.Ser245Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001362313]|Inborn genetic diseases [RCV002318360] |
Chr5:45645300 [GRCh38] Chr5:45645402 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p12-11(chr5:45378207-46228333)x3 |
copy number gain |
not provided [RCV000744683] |
Chr5:45378207..46228333 [GRCh37] Chr5:5p12-11 |
benign |
GRCh37/hg19 5p12(chr5:45477535-45527688)x0 |
copy number loss |
not provided [RCV000744684] |
Chr5:45477535..45527688 [GRCh37] Chr5:5p12 |
benign |
GRCh37/hg19 5p12(chr5:45527038-45527579)x1 |
copy number loss |
not provided [RCV000744685] |
Chr5:45527038..45527579 [GRCh37] Chr5:5p12 |
benign |
GRCh37/hg19 5p12(chr5:45527038-45537620)x1 |
copy number loss |
not provided [RCV000744686] |
Chr5:45527038..45537620 [GRCh37] Chr5:5p12 |
benign |
GRCh37/hg19 5p12(chr5:45527094-45527688)x0 |
copy number loss |
not provided [RCV000744687] |
Chr5:45527094..45527688 [GRCh37] Chr5:5p12 |
benign |
GRCh37/hg19 5p12(chr5:45527094-45527826)x1 |
copy number loss |
not provided [RCV000744688] |
Chr5:45527094..45527826 [GRCh37] Chr5:5p12 |
benign |
GRCh37/hg19 5p12(chr5:45527160-45537620)x1 |
copy number loss |
not provided [RCV000744689] |
Chr5:45527160..45537620 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.1619-5T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001491944] |
Chr5:45267258 [GRCh38] Chr5:45267360 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1542C>T (p.Phe514=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001483881] |
Chr5:45303675 [GRCh38] Chr5:45303777 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1230+104A>G |
single nucleotide variant |
not provided [RCV001647957] |
Chr5:45396388 [GRCh38] Chr5:45396490 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.2556G>T (p.Pro852=) |
single nucleotide variant |
not provided [RCV000998379] |
Chr5:45262038 [GRCh38] Chr5:45262140 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.159C>T (p.His53=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000864979]|Inborn genetic diseases [RCV002399885] |
Chr5:45695935 [GRCh38] Chr5:45696037 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1378-5T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000982856] |
Chr5:45303844 [GRCh38] Chr5:45303946 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1695C>T (p.Ser565=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000863311] |
Chr5:45267177 [GRCh38] Chr5:45267279 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1716C>A (p.Val572=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000920583] |
Chr5:45267156 [GRCh38] Chr5:45267258 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2295T>C (p.Asn765=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000867072] |
Chr5:45262299 [GRCh38] Chr5:45262401 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2507C>T (p.Pro836Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001449135]|not provided [RCV003480886] |
Chr5:45262087 [GRCh38] Chr5:45262189 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.252C>T (p.Ala84=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001518857] |
Chr5:45695842 [GRCh38] Chr5:45695944 [GRCh37] Chr5:5p12 |
benign |
NM_021072.3:c.850-?_1377+?del |
deletion |
not provided [RCV000883543] |
|
likely benign |
NM_021072.4(HCN1):c.2231C>T (p.Pro744Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002542069]|Inborn genetic diseases [RCV002537566] |
Chr5:45262363 [GRCh38] Chr5:45262465 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.1173_1174del (p.His392fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001058211] |
Chr5:45396548..45396549 [GRCh38] Chr5:45396650..45396651 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.10:g.(?_45261901)_(45696113_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033131] |
Chr5:45262003..45696215 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1351A>G (p.Asn451Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001062285] |
Chr5:45353126 [GRCh38] Chr5:45353228 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2564G>A (p.Gly855Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041228] |
Chr5:45262030 [GRCh38] Chr5:45262132 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.10:g.(?_45695649)_(45696113_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033513] |
Chr5:45695751..45696215 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1437G>A (p.Ala479=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034160]|Inborn genetic diseases [RCV002391087] |
Chr5:45303780 [GRCh38] Chr5:45303882 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.2555C>A (p.Pro852Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034266] |
Chr5:45262039 [GRCh38] Chr5:45262141 [GRCh37] Chr5:5p12 |
likely benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_021072.4(HCN1):c.129G>A (p.Pro43=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000792077] |
Chr5:45695965 [GRCh38] Chr5:45696067 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2270C>T (p.Thr757Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001492690] |
Chr5:45262324 [GRCh38] Chr5:45262426 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.546A>G (p.Ser182=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002062274] |
Chr5:45645488 [GRCh38] Chr5:45645590 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1917C>A (p.Ile639=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001497165] |
Chr5:45262677 [GRCh38] Chr5:45262779 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.369G>A (p.Glu123=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001500013]|Inborn genetic diseases [RCV002352540] |
Chr5:45695725 [GRCh38] Chr5:45695827 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2604A>G (p.Pro868=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000868970] |
Chr5:45261990 [GRCh38] Chr5:45262092 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2170G>A (p.Ala724Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000867855] |
Chr5:45262424 [GRCh38] Chr5:45262526 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.297C>G (p.Thr99=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001473371] |
Chr5:45695797 [GRCh38] Chr5:45695899 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.425+7G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000865258]|not provided [RCV003130081] |
Chr5:45695662 [GRCh38] Chr5:45695764 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.711T>C (p.Leu237=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000951723] |
Chr5:45645323 [GRCh38] Chr5:45645425 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.597C>T (p.Val199=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001438526] |
Chr5:45645437 [GRCh38] Chr5:45645539 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1161C>T (p.Ala387=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001402413] |
Chr5:45396561 [GRCh38] Chr5:45396663 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.948G>T (p.Gln316His) |
single nucleotide variant |
not provided [RCV002280465] |
Chr5:45461909 [GRCh38] Chr5:45462011 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1923T>A (p.Tyr641Ter) |
single nucleotide variant |
not provided [RCV003314132] |
Chr5:45262671 [GRCh38] Chr5:45262773 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.274_294dup (p.Gly92_Phe98dup) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818909]|not provided [RCV002279964] |
Chr5:45695799..45695800 [GRCh38] Chr5:45695901..45695902 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2353C>T (p.Pro785Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000799789]|HCN1-related condition [RCV003396396] |
Chr5:45262241 [GRCh38] Chr5:45262343 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NC_000005.9:g.(?_45267171)_(45696215_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000801354] |
Chr5:45267069..45696113 [GRCh38] Chr5:45267171..45696215 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.278_298dup (p.Phe93_Thr99dup) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000800057] |
Chr5:45695795..45695796 [GRCh38] Chr5:45695897..45695898 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.-189_221del (p.Met1fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000801317] |
Chr5:45695873..45696282 [GRCh38] Chr5:45695975..45696384 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.203GCG[9] (p.Gly73_Gly74dup) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000802189]|not provided [RCV003133630] |
Chr5:45695870..45695871 [GRCh38] Chr5:45695972..45695973 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1780A>G (p.Ile594Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000815432] |
Chr5:45267092 [GRCh38] Chr5:45267194 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.790A>T (p.Ser264Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000815698] |
Chr5:45645244 [GRCh38] Chr5:45645346 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1975C>T (p.Arg659Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000820149]|not provided [RCV001766735] |
Chr5:45262619 [GRCh38] Chr5:45262721 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.46G>A (p.Asp16Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000813799] |
Chr5:45696048 [GRCh38] Chr5:45696150 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV002290034]|Early infantile epileptic encephalopathy with suppression bursts [RCV001382081]|Generalized epilepsy with febrile seizures plus, type 10 [RCV000786049]|not provided [RCV001731925] |
Chr5:45396551 [GRCh38] Chr5:45396653 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.1769G>A (p.Arg590Gln) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV000786050] |
Chr5:45267103 [GRCh38] Chr5:45267205 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.2491G>A (p.Gly831Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000817889]|Inborn genetic diseases [RCV002427030] |
Chr5:45262103 [GRCh38] Chr5:45262205 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2302C>G (p.His768Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000805676] |
Chr5:45262292 [GRCh38] Chr5:45262394 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2216A>G (p.Gln739Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000807663]|not provided [RCV002293483] |
Chr5:45262378 [GRCh38] Chr5:45262480 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.728T>G (p.Met243Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV000786048] |
Chr5:45645306 [GRCh38] Chr5:45645408 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.986G>C (p.Cys329Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV000786051] |
Chr5:45461871 [GRCh38] Chr5:45461973 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.1240G>A (p.Val414Met) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV000786052] |
Chr5:45353237 [GRCh38] Chr5:45353339 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.469C>G (p.Leu157Val) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV000786053] |
Chr5:45645565 [GRCh38] Chr5:45645667 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.1056T>C (p.Ala352=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001505466] |
Chr5:45396666 [GRCh38] Chr5:45396768 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2447C>G (p.Pro816Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000799798] |
Chr5:45262147 [GRCh38] Chr5:45262249 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1857C>G (p.Asn619Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000820070] |
Chr5:45262737 [GRCh38] Chr5:45262839 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1680T>C (p.Arg560=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001500910] |
Chr5:45267192 [GRCh38] Chr5:45267294 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1375G>C (p.Glu459Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001067059] |
Chr5:45353102 [GRCh38] Chr5:45353204 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 |
copy number gain |
not provided [RCV001005674] |
Chr5:38432180..49441945 [GRCh37] Chr5:5p13.1-q11.1 |
pathogenic |
NC_000005.10:g.(?_45261921)_(45303839_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032553] |
Chr5:45262023..45303941 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.10:g.(?_45645165)_(45696113_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031741] |
Chr5:45645267..45696215 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12(chr5:44677459-45399633)x3 |
copy number gain |
not provided [RCV000846989] |
Chr5:44677459..45399633 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2310C>T (p.Ser770=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001208248] |
Chr5:45262284 [GRCh38] Chr5:45262386 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1657G>A (p.Val553Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001237739] |
Chr5:45267215 [GRCh38] Chr5:45267317 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2420C>G (p.Thr807Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001209767]|Inborn genetic diseases [RCV002451452]|not provided [RCV002274147] |
Chr5:45262174 [GRCh38] Chr5:45262276 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1306G>A (p.Glu436Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001224484] |
Chr5:45353171 [GRCh38] Chr5:45353273 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2080C>G (p.Leu694Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221935] |
Chr5:45262514 [GRCh38] Chr5:45262616 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.488G>A (p.Gly163Glu) |
single nucleotide variant |
not provided [RCV000998380] |
Chr5:45645546 [GRCh38] Chr5:45645648 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 |
copy number gain |
not provided [RCV000848003] |
Chr5:34453883..46389339 [GRCh37] Chr5:5p13.2-11 |
pathogenic |
GRCh37/hg19 5p12(chr5:45407119-45521734)x1 |
copy number loss |
not provided [RCV000845767] |
Chr5:45407119..45521734 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.-25_425del (p.Met1_Arg142del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001247201] |
Chr5:45695669..45696118 [GRCh38] Chr5:45695771..45696220 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.808C>T (p.Arg270Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001866073]|Generalized epilepsy with febrile seizures plus, type 10 [RCV001843425]|Inborn genetic diseases [RCV002421213]|not provided [RCV001577384] |
Chr5:45645226 [GRCh38] Chr5:45645328 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2566G>A (p.Val856Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003291984] |
Chr5:45262028 [GRCh38] Chr5:45262130 [GRCh37] Chr5:5p12 |
uncertain significance |
Single allele |
duplication |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001542324] |
Chr5:45270314..46227325 [GRCh38] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.1618+29A>G |
single nucleotide variant |
not provided [RCV001713406] |
Chr5:45303570 [GRCh38] Chr5:45303672 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.-55G>T |
single nucleotide variant |
not provided [RCV001684701] |
Chr5:45696148 [GRCh38] Chr5:45696250 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.874G>A (p.Ala292Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002579465]|not provided [RCV001587162] |
Chr5:45461983 [GRCh38] Chr5:45462085 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.426-128T>A |
single nucleotide variant |
not provided [RCV001718327] |
Chr5:45645736 [GRCh38] Chr5:45645838 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.189C>T (p.Gly63=) |
single nucleotide variant |
not provided [RCV000895163] |
Chr5:45695905 [GRCh38] Chr5:45696007 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1510C>T (p.Arg504Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002066109]|not provided [RCV003235435] |
Chr5:45303707 [GRCh38] Chr5:45303809 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2083T>G (p.Ser695Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000885324] |
Chr5:45262511 [GRCh38] Chr5:45262613 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1065C>T (p.His355=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000863520]|not provided [RCV003222155] |
Chr5:45396657 [GRCh38] Chr5:45396759 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1503T>C (p.Tyr501=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001466726] |
Chr5:45303714 [GRCh38] Chr5:45303816 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1329C>T (p.Ile443=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001421088] |
Chr5:45353148 [GRCh38] Chr5:45353250 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2170G>T (p.Ala724Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001218961] |
Chr5:45262424 [GRCh38] Chr5:45262526 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2462C>T (p.Ala821Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001219541] |
Chr5:45262132 [GRCh38] Chr5:45262234 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2111G>A (p.Cys704Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001245012] |
Chr5:45262483 [GRCh38] Chr5:45262585 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1857C>A (p.Asn619Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001234228] |
Chr5:45262737 [GRCh38] Chr5:45262839 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1966C>A (p.Pro656Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001209038] |
Chr5:45262628 [GRCh38] Chr5:45262730 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.130G>C (p.Gly44Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001066173] |
Chr5:45695964 [GRCh38] Chr5:45696066 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.238G>T (p.Gly80Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221517] |
Chr5:45695856 [GRCh38] Chr5:45695958 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.290A>G (p.Gln97Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002549089]|not provided [RCV000998381] |
Chr5:45695804 [GRCh38] Chr5:45695906 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1231-100_1231-99del |
deletion |
not provided [RCV001637374] |
Chr5:45353345..45353346 [GRCh38] Chr5:45353447..45353448 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.1377+33A>G |
single nucleotide variant |
not provided [RCV001732399] |
Chr5:45353067 [GRCh38] Chr5:45353169 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1012-37A>T |
single nucleotide variant |
not provided [RCV001732402] |
Chr5:45396747 [GRCh38] Chr5:45396849 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.850-286_850-285insTATA |
insertion |
not provided [RCV001732527] |
Chr5:45462292..45462293 [GRCh38] Chr5:45462394..45462395 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1012-14A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002072101]|not provided [RCV001557955] |
Chr5:45396724 [GRCh38] Chr5:45396826 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.1570A>T (p.Thr524Ser) |
single nucleotide variant |
not provided [RCV003108256] |
Chr5:45303647 [GRCh38] Chr5:45303749 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1230+94dup |
duplication |
not provided [RCV001620559] |
Chr5:45396386..45396387 [GRCh38] Chr5:45396488..45396489 [GRCh37] Chr5:5p12 |
benign |
GRCh37/hg19 5p12-11(chr5:45376992-46389339)x3 |
copy number gain |
not provided [RCV002473585] |
Chr5:45376992..46389339 [GRCh37] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.535A>T (p.Asn179Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV002466334] |
Chr5:45645499 [GRCh38] Chr5:45645601 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.477C>G (p.Ile159Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001066815] |
Chr5:45645557 [GRCh38] Chr5:45645659 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1619-211_1619-210insTA |
insertion |
not provided [RCV001655184] |
Chr5:45267463..45267464 [GRCh38] Chr5:45267565..45267566 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.1619-224dup |
duplication |
not provided [RCV001717588] |
Chr5:45267463..45267464 [GRCh38] Chr5:45267565..45267566 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.2438C>T (p.Ala813Val) |
single nucleotide variant |
not provided [RCV001091908] |
Chr5:45262156 [GRCh38] Chr5:45262258 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.201_218dup (p.Gly69_Gly74dup) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001211617] |
Chr5:45695875..45695876 [GRCh38] Chr5:45695977..45695978 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.10:g.(?_45353080)_(45696113_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031176] |
Chr5:45353182..45696215 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1012-214A>G |
single nucleotide variant |
not provided [RCV001643707] |
Chr5:45396924 [GRCh38] Chr5:45397026 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.1619-211del |
deletion |
not provided [RCV001665187] |
Chr5:45267464 [GRCh38] Chr5:45267566 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.84G>A (p.Thr28=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034347] |
Chr5:45696010 [GRCh38] Chr5:45696112 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.2159C>A (p.Ala720Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034510] |
Chr5:45262435 [GRCh38] Chr5:45262537 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1094C>T (p.Ala365Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034511] |
Chr5:45396628 [GRCh38] Chr5:45396730 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1655G>C (p.Ser552Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001207378]|not provided [RCV003225157] |
Chr5:45267217 [GRCh38] Chr5:45267319 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2404T>C (p.Ser802Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001071222] |
Chr5:45262190 [GRCh38] Chr5:45262292 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.266G>A (p.Arg89Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041830] |
Chr5:45695828 [GRCh38] Chr5:45695930 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1960A>G (p.Thr654Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001214972] |
Chr5:45262634 [GRCh38] Chr5:45262736 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1230+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001208656]|not provided [RCV003387530] |
Chr5:45396491 [GRCh38] Chr5:45396593 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.79G>A (p.Ala27Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001057738] |
Chr5:45696015 [GRCh38] Chr5:45696117 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1445del (p.Asn482fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001057897] |
Chr5:45303772 [GRCh38] Chr5:45303874 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2189T>C (p.Met730Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001233048] |
Chr5:45262405 [GRCh38] Chr5:45262507 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1519G>A (p.Ala507Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001319120]|not provided [RCV001200515] |
Chr5:45303698 [GRCh38] Chr5:45303800 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.793C>A (p.Leu265Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001206856] |
Chr5:45645241 [GRCh38] Chr5:45645343 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1186T>A (p.Leu396Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033997] |
Chr5:45396536 [GRCh38] Chr5:45396638 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.678C>G (p.Phe226Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001210919] |
Chr5:45645356 [GRCh38] Chr5:45645458 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.303G>A (p.Met101Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001064376] |
Chr5:45695791 [GRCh38] Chr5:45695893 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.181G>C (p.Val61Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001071822]|Inborn genetic diseases [RCV002554634] |
Chr5:45695913 [GRCh38] Chr5:45696015 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.295_296delinsGG (p.Thr99Gly) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV001054782] |
Chr5:45695798..45695799 [GRCh38] Chr5:45695900..45695901 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1969A>G (p.Thr657Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001040647] |
Chr5:45262625 [GRCh38] Chr5:45262727 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2125_2126del (p.Gln709fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052750] |
Chr5:45262468..45262469 [GRCh38] Chr5:45262570..45262571 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.195CGG[3] (p.Gly74dup) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041096] |
Chr5:45695893..45695894 [GRCh38] Chr5:45695995..45695996 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001253020]|Early infantile epileptic encephalopathy with suppression bursts [RCV001052150]|not provided [RCV003332290] |
Chr5:45396539 [GRCh38] Chr5:45396641 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NC_000005.10:g.(?_45645165)_(45645628_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033514] |
Chr5:45645267..45645730 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2179C>A (p.Leu727Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034103] |
Chr5:45262415 [GRCh38] Chr5:45262517 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001063315]|Inborn genetic diseases [RCV003353140]|Intellectual disability [RCV001256055] |
Chr5:45267095 [GRCh38] Chr5:45267197 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1967C>G (p.Pro656Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001203898] |
Chr5:45262627 [GRCh38] Chr5:45262729 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.661T>C (p.Trp221Arg) |
single nucleotide variant |
Intellectual disability [RCV001252507] |
Chr5:45645373 [GRCh38] Chr5:45645475 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1562G>T (p.Gly521Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001253258] |
Chr5:45303655 [GRCh38] Chr5:45303757 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.2495G>C (p.Arg832Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001257219] |
Chr5:45262099 [GRCh38] Chr5:45262201 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12(chr5:45455695-45647744)x3 |
copy number gain |
not provided [RCV001258674] |
Chr5:45455695..45647744 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1012-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001263002] |
Chr5:45396713 [GRCh38] Chr5:45396815 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.303G>C (p.Met101Ile) |
single nucleotide variant |
not provided [RCV002280501] |
Chr5:45695791 [GRCh38] Chr5:45695893 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2260C>T (p.Gln754Ter) |
single nucleotide variant |
Intellectual disability [RCV001260716] |
Chr5:45262334 [GRCh38] Chr5:45262436 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.160G>C (p.Gly54Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV001266029] |
Chr5:45695934 [GRCh38] Chr5:45696036 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1845C>G (p.Asn615Lys) |
single nucleotide variant |
Neurodevelopmental abnormality [RCV001264686] |
Chr5:45262749 [GRCh38] Chr5:45262851 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12-11(chr5:44541478-46389339)x3 |
copy number gain |
not provided [RCV001258675] |
Chr5:44541478..46389339 [GRCh37] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.1678C>G (p.Arg560Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV001267391] |
Chr5:45267194 [GRCh38] Chr5:45267296 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.851T>C (p.Ile284Thr) |
single nucleotide variant |
Intellectual disability [RCV001260717] |
Chr5:45462006 [GRCh38] Chr5:45462108 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1322G>A (p.Gly441Asp) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001262644] |
Chr5:45353155 [GRCh38] Chr5:45353257 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2255C>A (p.Ser752Tyr) |
single nucleotide variant |
not provided [RCV001311648] |
Chr5:45262339 [GRCh38] Chr5:45262441 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1638A>G (p.Lys546=) |
single nucleotide variant |
not provided [RCV001311649] |
Chr5:45267234 [GRCh38] Chr5:45267336 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1348C>T (p.Leu450Phe) |
single nucleotide variant |
not provided [RCV001311650] |
Chr5:45353129 [GRCh38] Chr5:45353231 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.203GCG[11] (p.Gly71_Gly74dup) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001302175]|not provided [RCV002511075] |
Chr5:45695870..45695871 [GRCh38] Chr5:45695972..45695973 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1778G>A (p.Arg593Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001339596]|Inborn genetic diseases [RCV002402939] |
Chr5:45267094 [GRCh38] Chr5:45267196 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1977C>T (p.Arg659=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001351879] |
Chr5:45262617 [GRCh38] Chr5:45262719 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.223GAG[1] (p.Glu76del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001343108]|not provided [RCV001726489] |
Chr5:45695866..45695868 [GRCh38] Chr5:45695968..45695970 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2303A>G (p.His768Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001326380] |
Chr5:45262291 [GRCh38] Chr5:45262393 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2321T>C (p.Leu774Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001312418] |
Chr5:45262273 [GRCh38] Chr5:45262375 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.831C>G (p.Tyr277Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001302856] |
Chr5:45645203 [GRCh38] Chr5:45645305 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45695751)_(45696215_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001309581] |
Chr5:45695751..45696215 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45267181)_(45696195_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001309582] |
Chr5:45267181..45696195 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2565A>G (p.Gly855=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001422208] |
Chr5:45262029 [GRCh38] Chr5:45262131 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.694G>A (p.Val232Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001295516] |
Chr5:45645340 [GRCh38] Chr5:45645442 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2048C>T (p.Pro683Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001361553] |
Chr5:45262546 [GRCh38] Chr5:45262648 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2581C>A (p.Pro861Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001372602]|not provided [RCV003334040] |
Chr5:45262013 [GRCh38] Chr5:45262115 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001336534]|Early infantile epileptic encephalopathy with suppression bursts [RCV001344227] |
Chr5:45695812 [GRCh38] Chr5:45695914 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001336535]|Early infantile epileptic encephalopathy with suppression bursts [RCV001360732] |
Chr5:45696020 [GRCh38] Chr5:45696122 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NC_000005.9:g.(?_45262003)_(45262932_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001316563] |
Chr5:45262003..45262932 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45695975)_45696384del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001316564] |
|
uncertain significance |
NM_021072.4(HCN1):c.-279C>T |
single nucleotide variant |
not provided [RCV001765988] |
Chr5:45696372 [GRCh38] Chr5:45696474 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1998G>A (p.Pro666=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001312399] |
Chr5:45262596 [GRCh38] Chr5:45262698 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.102G>A (p.Ala34=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001370902] |
Chr5:45695992 [GRCh38] Chr5:45696094 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1534dup (p.Met512fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001360506]|not provided [RCV003225183] |
Chr5:45303682..45303683 [GRCh38] Chr5:45303784..45303785 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.10:g.45461997_45462008del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001361903] |
Chr5:45461995..45462006 [GRCh38] Chr5:45462097..45462108 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1147G>A (p.Ala383Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001304221] |
Chr5:45396575 [GRCh38] Chr5:45396677 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.201_218del (p.Gly69_Gly74del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001346329] |
Chr5:45695876..45695893 [GRCh38] Chr5:45695978..45695995 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_44305097)_(45696195_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001346561] |
Chr5:44305097..45696195 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2559C>A (p.Asn853Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001371289] |
Chr5:45262035 [GRCh38] Chr5:45262137 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45262003)_(45303961_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001316562] |
Chr5:45262003..45303961 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45262023)_(45696195_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001365122] |
Chr5:45262023..45696195 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.809G>A (p.Arg270Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001361295]|Seizure [RCV002275713] |
Chr5:45645225 [GRCh38] Chr5:45645327 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1462C>A (p.Leu488Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001372233] |
Chr5:45303755 [GRCh38] Chr5:45303857 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.383A>G (p.Lys128Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001351279] |
Chr5:45695711 [GRCh38] Chr5:45695813 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 |
copy number gain |
musculoskeletal system issues [RCV002284293] |
Chr5:36053583..46389339 [GRCh37] Chr5:5p13.2-11 |
pathogenic |
NM_021072.4(HCN1):c.298T>G (p.Ser100Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001308984] |
Chr5:45695796 [GRCh38] Chr5:45695898 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1028A>G (p.Lys343Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001362272] |
Chr5:45396694 [GRCh38] Chr5:45396796 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001329207] |
Chr5:45262646 [GRCh38] Chr5:45262748 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2615C>T (p.Ser872Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001363874] |
Chr5:45261979 [GRCh38] Chr5:45262081 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1145G>C (p.Gly382Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001370986] |
Chr5:45396577 [GRCh38] Chr5:45396679 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.763C>T (p.Arg255Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001301157]|not provided [RCV001565469] |
Chr5:45645271 [GRCh38] Chr5:45645373 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.262C>G (p.Arg88Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001350797] |
Chr5:45695832 [GRCh38] Chr5:45695934 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1008G>C (p.Met336Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001340049] |
Chr5:45461849 [GRCh38] Chr5:45461951 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2419A>G (p.Thr807Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001366457] |
Chr5:45262175 [GRCh38] Chr5:45262277 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.136G>T (p.Gly46Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001366533]|Inborn genetic diseases [RCV002384526] |
Chr5:45695958 [GRCh38] Chr5:45696060 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1156_1158dup (p.Tyr386dup) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001366561] |
Chr5:45396563..45396564 [GRCh38] Chr5:45396665..45396666 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1378-9C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001421714] |
Chr5:45303848 [GRCh38] Chr5:45303950 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1400G>C (p.Arg467Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001351975] |
Chr5:45303817 [GRCh38] Chr5:45303919 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2009C>T (p.Ala670Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001316066]|not provided [RCV001726485] |
Chr5:45262585 [GRCh38] Chr5:45262687 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NC_000005.9:g.(?_45396584)_(45696195_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001352398] |
Chr5:45396584..45696195 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2515G>T (p.Val839Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001368202] |
Chr5:45262079 [GRCh38] Chr5:45262181 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1466G>A (p.Ser489Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001352584] |
Chr5:45303751 [GRCh38] Chr5:45303853 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2040C>T (p.Ser680=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001395902] |
Chr5:45262554 [GRCh38] Chr5:45262656 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.727A>G (p.Met243Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001295634] |
Chr5:45645307 [GRCh38] Chr5:45645409 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.265C>A (p.Arg89=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001495448] |
Chr5:45695829 [GRCh38] Chr5:45695931 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1431T>A (p.Ala477=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001464295] |
Chr5:45303786 [GRCh38] Chr5:45303888 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.537T>C (p.Asn179=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001464665] |
Chr5:45645497 [GRCh38] Chr5:45645599 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.297C>A (p.Thr99=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001479947] |
Chr5:45695797 [GRCh38] Chr5:45695899 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.993G>A (p.Val331=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001470971] |
Chr5:45461864 [GRCh38] Chr5:45461966 [GRCh37] Chr5:5p12 |
likely benign |
NC_000005.9:g.(?_45645277)_(45696195_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001488311] |
Chr5:45645277..45696195 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1783+8A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001455366] |
Chr5:45267081 [GRCh38] Chr5:45267183 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.519A>T (p.Thr173=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001428657] |
Chr5:45645515 [GRCh38] Chr5:45645617 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2442C>T (p.Ser814=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001491604] |
Chr5:45262152 [GRCh38] Chr5:45262254 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.426-4G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001492872] |
Chr5:45645612 [GRCh38] Chr5:45645714 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1950A>G (p.Thr650=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001429199]|Inborn genetic diseases [RCV002420965] |
Chr5:45262644 [GRCh38] Chr5:45262746 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.75G>T (p.Ala25=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001440206] |
Chr5:45696019 [GRCh38] Chr5:45696121 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1674T>C (p.Tyr558=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001393539] |
Chr5:45267198 [GRCh38] Chr5:45267300 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.279C>T (p.Phe93=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001474728]|not provided [RCV003387532] |
Chr5:45695815 [GRCh38] Chr5:45695917 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1768C>A (p.Arg590=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001474816] |
Chr5:45267104 [GRCh38] Chr5:45267206 [GRCh37] Chr5:5p12 |
likely benign |
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 |
copy number gain |
not provided [RCV001537930] |
Chr5:34984696..46405042 [GRCh37] Chr5:5p13.2-11 |
pathogenic |
NM_021072.4(HCN1):c.1497A>G (p.Gly499=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001427435]|Inborn genetic diseases [RCV002395982] |
Chr5:45303720 [GRCh38] Chr5:45303822 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.939T>C (p.Gly313=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001438449] |
Chr5:45461918 [GRCh38] Chr5:45462020 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2478C>T (p.Gly826=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001394318] |
Chr5:45262116 [GRCh38] Chr5:45262218 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1172G>T (p.Gly391Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001388285] |
Chr5:45396550 [GRCh38] Chr5:45396652 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.1218G>A (p.Gln406=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001446467] |
Chr5:45396504 [GRCh38] Chr5:45396606 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1113C>T (p.Asp371=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001402713] |
Chr5:45396609 [GRCh38] Chr5:45396711 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2469C>T (p.Pro823=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001407707] |
Chr5:45262125 [GRCh38] Chr5:45262227 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.573C>A (p.Ile191=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001410289] |
Chr5:45645461 [GRCh38] Chr5:45645563 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.348C>T (p.Ser116=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001449545] |
Chr5:45695746 [GRCh38] Chr5:45695848 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.78C>T (p.Ser26=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001419085] |
Chr5:45696016 [GRCh38] Chr5:45696118 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1908C>T (p.Ile636=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001425386] |
Chr5:45262686 [GRCh38] Chr5:45262788 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1230+8_1230+9dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001437591] |
Chr5:45396482..45396483 [GRCh38] Chr5:45396584..45396585 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1619-4A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001411068] |
Chr5:45267257 [GRCh38] Chr5:45267359 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.420T>C (p.Asp140=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001403958] |
Chr5:45695674 [GRCh38] Chr5:45695776 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.84G>C (p.Thr28=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001408819] |
Chr5:45696010 [GRCh38] Chr5:45696112 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.312C>T (p.Pro104=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001435331] |
Chr5:45695782 [GRCh38] Chr5:45695884 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.234G>A (p.Ala78=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001432169] |
Chr5:45695860 [GRCh38] Chr5:45695962 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2364C>T (p.Ala788=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001469016] |
Chr5:45262230 [GRCh38] Chr5:45262332 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2475G>C (p.Thr825=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001502987] |
Chr5:45262119 [GRCh38] Chr5:45262221 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.189C>A (p.Gly63=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001499943] |
Chr5:45695905 [GRCh38] Chr5:45696007 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1231-245A>G |
single nucleotide variant |
not provided [RCV001608796] |
Chr5:45353491 [GRCh38] Chr5:45353593 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.1209G>A (p.Ser403=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001463063] |
Chr5:45396513 [GRCh38] Chr5:45396615 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1305T>C (p.Tyr435=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001501219] |
Chr5:45353172 [GRCh38] Chr5:45353274 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.599A>G (p.Asn200Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001439363] |
Chr5:45645435 [GRCh38] Chr5:45645537 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2232G>A (p.Pro744=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001503113] |
Chr5:45262362 [GRCh38] Chr5:45262464 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.876C>T (p.Ala292=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001506124] |
Chr5:45461981 [GRCh38] Chr5:45462083 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.192T>C (p.Gly64=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001496072] |
Chr5:45695902 [GRCh38] Chr5:45696004 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2025C>T (p.His675=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001507106] |
Chr5:45262569 [GRCh38] Chr5:45262671 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.105C>G (p.Ala35=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001498638] |
Chr5:45695989 [GRCh38] Chr5:45696091 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2598T>C (p.Ala866=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001438250] |
Chr5:45261996 [GRCh38] Chr5:45262098 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2077A>G (p.Ile693Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001429985] |
Chr5:45262517 [GRCh38] Chr5:45262619 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2659G>A (p.Ala887Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001467899] |
Chr5:45261935 [GRCh38] Chr5:45262037 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.702T>C (p.Tyr234=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001416083] |
Chr5:45645332 [GRCh38] Chr5:45645434 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2253G>C (p.Pro751=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001418164] |
Chr5:45262341 [GRCh38] Chr5:45262443 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2076C>T (p.Ala692=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001456213] |
Chr5:45262518 [GRCh38] Chr5:45262620 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.115C>T (p.Leu39=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001483997] |
Chr5:45695979 [GRCh38] Chr5:45696081 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1486T>C (p.Phe496Leu) |
single nucleotide variant |
not provided [RCV001727322] |
Chr5:45303731 [GRCh38] Chr5:45303833 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.425+158C>T |
single nucleotide variant |
not provided [RCV001732759] |
Chr5:45695511 [GRCh38] Chr5:45695613 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1660C>T (p.Arg554Ter) |
single nucleotide variant |
not provided [RCV001755165] |
Chr5:45267212 [GRCh38] Chr5:45267314 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.680T>C (p.Ile227Thr) |
single nucleotide variant |
not provided [RCV001756613] |
Chr5:45645354 [GRCh38] Chr5:45645456 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1619-210A>T |
single nucleotide variant |
not provided [RCV001732332] |
Chr5:45267463 [GRCh38] Chr5:45267565 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1399C>T (p.Arg467Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002295360]|not provided [RCV002251649] |
Chr5:45303818 [GRCh38] Chr5:45303920 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.858C>A (p.His286Gln) |
single nucleotide variant |
not provided [RCV001727324] |
Chr5:45461999 [GRCh38] Chr5:45462101 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.1191C>G (p.Ile397Met) |
single nucleotide variant |
not provided [RCV001727323] |
Chr5:45396531 [GRCh38] Chr5:45396633 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.343G>T (p.Gly115Trp) |
single nucleotide variant |
not provided [RCV001754859] |
Chr5:45695751 [GRCh38] Chr5:45695853 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1618+14A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002105498] |
Chr5:45303585 [GRCh38] Chr5:45303687 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1775A>G (p.Asp592Gly) |
single nucleotide variant |
not provided [RCV002272112] |
Chr5:45267097 [GRCh38] Chr5:45267199 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1897G>A (p.Val633Met) |
single nucleotide variant |
not provided [RCV001761277] |
Chr5:45262697 [GRCh38] Chr5:45262799 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.425+245G>C |
single nucleotide variant |
not provided [RCV001733100] |
Chr5:45695424 [GRCh38] Chr5:45695526 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1784-115T>G |
single nucleotide variant |
not provided [RCV001779572] |
Chr5:45262925 [GRCh38] Chr5:45263027 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001785215] |
Chr5:45262429 [GRCh38] Chr5:45262531 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1493del (p.Pro498fs) |
deletion |
not provided [RCV001769444] |
Chr5:45303724 [GRCh38] Chr5:45303826 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.130G>T (p.Gly44Trp) |
single nucleotide variant |
not provided [RCV003237659] |
Chr5:45695964 [GRCh38] Chr5:45696066 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.662G>T (p.Trp221Leu) |
single nucleotide variant |
not provided [RCV001758700] |
Chr5:45645372 [GRCh38] Chr5:45645474 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.628C>T (p.Pro210Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001754550] |
Chr5:45645406 [GRCh38] Chr5:45645508 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.1739G>A (p.Arg580Lys) |
single nucleotide variant |
not provided [RCV001763565] |
Chr5:45267133 [GRCh38] Chr5:45267235 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1414A>T (p.Thr472Ser) |
single nucleotide variant |
not provided [RCV001754582] |
Chr5:45303803 [GRCh38] Chr5:45303905 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2284A>T (p.Thr762Ser) |
single nucleotide variant |
not provided [RCV001771290] |
Chr5:45262310 [GRCh38] Chr5:45262412 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1295A>T (p.His432Leu) |
single nucleotide variant |
not provided [RCV001762803] |
Chr5:45353182 [GRCh38] Chr5:45353284 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1600G>A (p.Asp534Asn) |
single nucleotide variant |
not provided [RCV001763832] |
Chr5:45303617 [GRCh38] Chr5:45303719 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1816C>T (p.Gln606Ter) |
single nucleotide variant |
not provided [RCV001767567] |
Chr5:45262778 [GRCh38] Chr5:45262880 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2537C>G (p.Ser846Trp) |
single nucleotide variant |
not provided [RCV001763855] |
Chr5:45262057 [GRCh38] Chr5:45262159 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.800G>A (p.Arg267His) |
single nucleotide variant |
not provided [RCV001754693] |
Chr5:45645234 [GRCh38] Chr5:45645336 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1094C>A (p.Ala365Asp) |
single nucleotide variant |
not provided [RCV001772808] |
Chr5:45396628 [GRCh38] Chr5:45396730 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1619-6T>A |
single nucleotide variant |
not provided [RCV001760920] |
Chr5:45267259 [GRCh38] Chr5:45267361 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.643A>G (p.Met215Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002540246]|Inborn genetic diseases [RCV002361019]|not provided [RCV001768516] |
Chr5:45645391 [GRCh38] Chr5:45645493 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1132A>T (p.Ser378Cys) |
single nucleotide variant |
not provided [RCV001754063] |
Chr5:45396590 [GRCh38] Chr5:45396692 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.635T>A (p.Val212Glu) |
single nucleotide variant |
not provided [RCV001771043] |
Chr5:45645399 [GRCh38] Chr5:45645501 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.273C>A (p.Tyr91Ter) |
single nucleotide variant |
not provided [RCV001754127] |
Chr5:45695821 [GRCh38] Chr5:45695923 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1429G>A (p.Ala477Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001771812] |
Chr5:45303788 [GRCh38] Chr5:45303890 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1148C>T (p.Ala383Val) |
single nucleotide variant |
not provided [RCV001797333] |
Chr5:45396574 [GRCh38] Chr5:45396676 [GRCh37] Chr5:5p12 |
likely pathogenic|uncertain significance |
NM_021072.4(HCN1):c.426-8_426-5del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002077271]|not provided [RCV001815940] |
Chr5:45645613..45645616 [GRCh38] Chr5:45645715..45645718 [GRCh37] Chr5:5p12 |
benign|uncertain significance |
NM_021072.4(HCN1):c.1619-211T>A |
single nucleotide variant |
not provided [RCV001733103] |
Chr5:45267464 [GRCh38] Chr5:45267566 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1783+88A>C |
single nucleotide variant |
not provided [RCV001733223] |
Chr5:45267001 [GRCh38] Chr5:45267103 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.107A>G (p.Glu36Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001875002] |
Chr5:45695987 [GRCh38] Chr5:45696089 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.422T>G (p.Phe141Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001988134] |
Chr5:45695672 [GRCh38] Chr5:45695774 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1400G>A (p.Arg467Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001950537] |
Chr5:45303817 [GRCh38] Chr5:45303919 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2261A>G (p.Gln754Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001984574] |
Chr5:45262333 [GRCh38] Chr5:45262435 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2527C>G (p.Arg843Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002025002] |
Chr5:45262067 [GRCh38] Chr5:45262169 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1159G>T (p.Ala387Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001949242]|Inborn genetic diseases [RCV002370611] |
Chr5:45396563 [GRCh38] Chr5:45396665 [GRCh37] Chr5:5p12 |
pathogenic|uncertain significance |
NM_021072.4(HCN1):c.2178G>T (p.Gln726His) |
single nucleotide variant |
not provided [RCV001843881] |
Chr5:45262416 [GRCh38] Chr5:45262518 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1536G>A (p.Met512Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001970987] |
Chr5:45303681 [GRCh38] Chr5:45303783 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2062C>T (p.Pro688Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002025882] |
Chr5:45262532 [GRCh38] Chr5:45262634 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12-11(chr5:45378529-46136706)x3 |
copy number gain |
not provided [RCV001834404] |
Chr5:45378529..46136706 [GRCh37] Chr5:5p12-11 |
uncertain significance |
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) |
copy number gain |
not specified [RCV002053485] |
Chr5:26382110..46389339 [GRCh37] Chr5:5p14.1-11 |
pathogenic |
NM_021072.4(HCN1):c.1227G>C (p.Glu409Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001966018] |
Chr5:45396495 [GRCh38] Chr5:45396597 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12-11(chr5:43972062-46101844) |
copy number loss |
not specified [RCV002053494] |
Chr5:43972062..46101844 [GRCh37] Chr5:5p12-11 |
pathogenic |
NM_021072.4(HCN1):c.2612C>T (p.Ser871Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002041866] |
Chr5:45261982 [GRCh38] Chr5:45262084 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1184C>G (p.Ala395Gly) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001843431] |
Chr5:45396538 [GRCh38] Chr5:45396640 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.203GCG[3] (p.Gly71_Gly74del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001966973] |
Chr5:45695871..45695882 [GRCh38] Chr5:45695973..45695984 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2405C>G (p.Ser802Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001910878] |
Chr5:45262189 [GRCh38] Chr5:45262291 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1339G>T (p.Glu447Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002039670] |
Chr5:45353138 [GRCh38] Chr5:45353240 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.469C>A (p.Leu157Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001892245] |
Chr5:45645565 [GRCh38] Chr5:45645667 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45695751)_(45696195_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001985746] |
Chr5:45695751..45696195 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2288C>G (p.Pro763Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002021744]|Inborn genetic diseases [RCV003365662] |
Chr5:45262306 [GRCh38] Chr5:45262408 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.301A>G (p.Met101Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001895100] |
Chr5:45695793 [GRCh38] Chr5:45695895 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2489G>C (p.Gly830Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001895430] |
Chr5:45262105 [GRCh38] Chr5:45262207 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2128_2129dup (p.Ser710fs) |
microsatellite |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001843430] |
Chr5:45262464..45262465 [GRCh38] Chr5:45262566..45262567 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.737A>C (p.Glu246Ala) |
single nucleotide variant |
Seizure [RCV001837052] |
Chr5:45645297 [GRCh38] Chr5:45645399 [GRCh37] Chr5:5p12 |
pathogenic |
GRCh37/hg19 5p12(chr5:45471607-46010277)x3 |
copy number gain |
not provided [RCV001829213] |
Chr5:45471607..46010277 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.290del (p.Gln97fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002022799] |
Chr5:45695804 [GRCh38] Chr5:45695906 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.703A>G (p.Ile235Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002042075] |
Chr5:45645331 [GRCh38] Chr5:45645433 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2140G>T (p.Ala714Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002042975] |
Chr5:45262454 [GRCh38] Chr5:45262556 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
GRCh37/hg19 5p12-11(chr5:43855245-46389339) |
copy number loss |
not specified [RCV002053493] |
Chr5:43855245..46389339 [GRCh37] Chr5:5p12-11 |
pathogenic |
NM_021072.4(HCN1):c.1834G>A (p.Gly612Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001946164]|not provided [RCV002463074] |
Chr5:45262760 [GRCh38] Chr5:45262862 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2388G>A (p.Glu796=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001964203] |
Chr5:45262206 [GRCh38] Chr5:45262308 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.928C>T (p.His310Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV001840951] |
Chr5:45461929 [GRCh38] Chr5:45462031 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002034714]|Generalized epilepsy with febrile seizures plus, type 10 [RCV001843429]|Inborn genetic diseases [RCV002359277]|not provided [RCV002272502] |
Chr5:45396508 [GRCh38] Chr5:45396610 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.719A>G (p.Glu240Gly) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001843428] |
Chr5:45645315 [GRCh38] Chr5:45645417 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1138A>T (p.Ile380Phe) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001843432] |
Chr5:45396584 [GRCh38] Chr5:45396686 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1169T>C (p.Val390Ala) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV001843433] |
Chr5:45396553 [GRCh38] Chr5:45396655 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.1109C>T (p.Ser370Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001894505] |
Chr5:45396613 [GRCh38] Chr5:45396715 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2062C>A (p.Pro688Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001983633] |
Chr5:45262532 [GRCh38] Chr5:45262634 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.112C>A (p.Arg38Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002001136] |
Chr5:45695982 [GRCh38] Chr5:45696084 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.101C>T (p.Ala34Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002032177] |
Chr5:45695993 [GRCh38] Chr5:45696095 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1159G>C (p.Ala387Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002000335] |
Chr5:45396563 [GRCh38] Chr5:45396665 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.1540T>C (p.Phe514Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001944706] |
Chr5:45303677 [GRCh38] Chr5:45303779 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1679G>A (p.Arg560His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002027168] |
Chr5:45267193 [GRCh38] Chr5:45267295 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.423C>G (p.Phe141Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001962866] |
Chr5:45695671 [GRCh38] Chr5:45695773 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1522G>T (p.Val508Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002001084] |
Chr5:45303695 [GRCh38] Chr5:45303797 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.216_224dup (p.Gly74_Glu75insAspGlyGly) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001953172] |
Chr5:45695869..45695870 [GRCh38] Chr5:45695971..45695972 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1201G>A (p.Asp401Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002029408] |
Chr5:45396521 [GRCh38] Chr5:45396623 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.225G>C (p.Glu75Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001992441] |
Chr5:45695869 [GRCh38] Chr5:45695971 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1190T>G (p.Ile397Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001880303] |
Chr5:45396532 [GRCh38] Chr5:45396634 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45262023)_(45645730_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001923165] |
Chr5:45262023..45645730 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.192TGGCGGCGG[4] (p.Gly69_Gly74dup) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001900642] |
Chr5:45695884..45695885 [GRCh38] Chr5:45695986..45695987 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1856A>C (p.Asn619Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002049813] |
Chr5:45262738 [GRCh38] Chr5:45262840 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2477G>A (p.Gly826Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001902136] |
Chr5:45262117 [GRCh38] Chr5:45262219 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2279G>C (p.Ser760Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001916897] |
Chr5:45262315 [GRCh38] Chr5:45262417 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2106G>A (p.Ala702=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002009542] |
Chr5:45262488 [GRCh38] Chr5:45262590 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1229A>G (p.Lys410Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002045964] |
Chr5:45396493 [GRCh38] Chr5:45396595 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.937G>A (p.Gly313Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001919772] |
Chr5:45461920 [GRCh38] Chr5:45462022 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1382T>C (p.Ile461Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001990453] |
Chr5:45303835 [GRCh38] Chr5:45303937 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.180G>A (p.Lys60=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001878152] |
Chr5:45695914 [GRCh38] Chr5:45696016 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1228A>G (p.Lys410Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002015296] |
Chr5:45396494 [GRCh38] Chr5:45396596 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1232A>G (p.Tyr411Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001922784] |
Chr5:45353245 [GRCh38] Chr5:45353347 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2606G>A (p.Arg869Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001921589]|Inborn genetic diseases [RCV003348636] |
Chr5:45261988 [GRCh38] Chr5:45262090 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1619-17G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001978379] |
Chr5:45267270 [GRCh38] Chr5:45267372 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.263G>T (p.Arg88Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001954141] |
Chr5:45695831 [GRCh38] Chr5:45695933 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1042G>A (p.Ala348Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002012939] |
Chr5:45396680 [GRCh38] Chr5:45396782 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2099C>A (p.Thr700Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002012479] |
Chr5:45262495 [GRCh38] Chr5:45262597 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1511G>A (p.Arg504Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001938189] |
Chr5:45303706 [GRCh38] Chr5:45303808 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1798A>G (p.Ile600Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001936684] |
Chr5:45262796 [GRCh38] Chr5:45262898 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.243C>G (p.Phe81Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001881984] |
Chr5:45695851 [GRCh38] Chr5:45695953 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1129C>G (p.Leu377Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001924751] |
Chr5:45396593 [GRCh38] Chr5:45396695 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.107A>C (p.Glu36Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001884179] |
Chr5:45695987 [GRCh38] Chr5:45696089 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2396C>T (p.Thr799Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001980375] |
Chr5:45262198 [GRCh38] Chr5:45262300 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.91G>T (p.Gly31Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001999055] |
Chr5:45696003 [GRCh38] Chr5:45696105 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2488G>A (p.Gly830Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001975506]|not provided [RCV003130641] |
Chr5:45262106 [GRCh38] Chr5:45262208 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1610_1613del (p.Tyr537fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001991086] |
Chr5:45303604..45303607 [GRCh38] Chr5:45303706..45303709 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2329A>G (p.Thr777Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001991506] |
Chr5:45262265 [GRCh38] Chr5:45262367 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.425+17G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002145670] |
Chr5:45695652 [GRCh38] Chr5:45695754 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2247G>A (p.Gln749=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002110739] |
Chr5:45262347 [GRCh38] Chr5:45262449 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.987C>T (p.Cys329=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002189630] |
Chr5:45461870 [GRCh38] Chr5:45461972 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.319A>G (p.Asn107Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002210781]|Inborn genetic diseases [RCV002325705] |
Chr5:45695775 [GRCh38] Chr5:45695877 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.*2935G>T |
single nucleotide variant |
not provided [RCV002223426] |
Chr5:45258986 [GRCh38] Chr5:45259088 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.168C>T (p.Ser56=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002074631]|not specified [RCV003403702] |
Chr5:45695926 [GRCh38] Chr5:45696028 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1783+16A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002111909] |
Chr5:45267073 [GRCh38] Chr5:45267175 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.78C>G (p.Ser26=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002125131] |
Chr5:45696016 [GRCh38] Chr5:45696118 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.90G>C (p.Ala30=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002127777] |
Chr5:45696004 [GRCh38] Chr5:45696106 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.425+12C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002110285] |
Chr5:45695657 [GRCh38] Chr5:45695759 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1377+7T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002090217] |
Chr5:45353093 [GRCh38] Chr5:45353195 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2568C>A (p.Val856=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002089261] |
Chr5:45262026 [GRCh38] Chr5:45262128 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1257A>T (p.Ser419=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002185146] |
Chr5:45353220 [GRCh38] Chr5:45353322 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.681C>A (p.Ile227=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002169155] |
Chr5:45645353 [GRCh38] Chr5:45645455 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2430G>A (p.Glu810=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002166593] |
Chr5:45262164 [GRCh38] Chr5:45262266 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1783+17C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002167780] |
Chr5:45267072 [GRCh38] Chr5:45267174 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.360G>A (p.Val120=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002145212]|Inborn genetic diseases [RCV002454485] |
Chr5:45695734 [GRCh38] Chr5:45695836 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1647T>C (p.Arg549=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002072405] |
Chr5:45267225 [GRCh38] Chr5:45267327 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1011+12C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002213465] |
Chr5:45461834 [GRCh38] Chr5:45461936 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.687C>A (p.Ser229=) |
single nucleotide variant |
not provided [RCV002214354] |
Chr5:45645347 [GRCh38] Chr5:45645449 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1902G>A (p.Gln634=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002189816] |
Chr5:45262692 [GRCh38] Chr5:45262794 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1012-14A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002196924] |
Chr5:45396724 [GRCh38] Chr5:45396826 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1230+14T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002090061] |
Chr5:45396478 [GRCh38] Chr5:45396580 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1474A>C (p.Arg492=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002197526] |
Chr5:45303743 [GRCh38] Chr5:45303845 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.267G>A (p.Arg89=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002145253] |
Chr5:45695827 [GRCh38] Chr5:45695929 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.795C>A (p.Leu265=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002079070] |
Chr5:45645239 [GRCh38] Chr5:45645341 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2514C>G (p.Arg838=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002088844] |
Chr5:45262080 [GRCh38] Chr5:45262182 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.425+13G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002152154] |
Chr5:45695656 [GRCh38] Chr5:45695758 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.636G>T (p.Val212=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002116915] |
Chr5:45645398 [GRCh38] Chr5:45645500 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.267_268delinsAA (p.Gln90Lys) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV002149926] |
Chr5:45695826..45695827 [GRCh38] Chr5:45695928..45695929 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2326A>G (p.Asn776Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002194155] |
Chr5:45262268 [GRCh38] Chr5:45262370 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.561A>G (p.Leu187=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002172927] |
Chr5:45645473 [GRCh38] Chr5:45645575 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.426-12del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002115098] |
Chr5:45645620 [GRCh38] Chr5:45645722 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.126G>A (p.Pro42=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002168774] |
Chr5:45695968 [GRCh38] Chr5:45696070 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1784-19_1784-16del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002213040] |
Chr5:45262826..45262829 [GRCh38] Chr5:45262928..45262931 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1320A>G (p.Gln440=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002173247] |
Chr5:45353157 [GRCh38] Chr5:45353259 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1283G>A (p.Arg428His) |
single nucleotide variant |
not provided [RCV002214353] |
Chr5:45353194 [GRCh38] Chr5:45353296 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.132G>C (p.Gly44=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002077524] |
Chr5:45695962 [GRCh38] Chr5:45696064 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2635C>T (p.Pro879Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002199552] |
Chr5:45261959 [GRCh38] Chr5:45262061 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1897G>T (p.Val633Leu) |
single nucleotide variant |
not specified [RCV002247883] |
Chr5:45262697 [GRCh38] Chr5:45262799 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003093858]|not provided [RCV002221779] |
|
uncertain significance |
NM_021072.4(HCN1):c.1941G>A (p.Leu647=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002199224] |
Chr5:45262653 [GRCh38] Chr5:45262755 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2306A>G (p.Lys769Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002123259] |
Chr5:45262288 [GRCh38] Chr5:45262390 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1129C>T (p.Leu377=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002177277] |
Chr5:45396593 [GRCh38] Chr5:45396695 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2252C>G (p.Pro751Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002081316] |
Chr5:45262342 [GRCh38] Chr5:45262444 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.426-20G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002204049] |
Chr5:45645628 [GRCh38] Chr5:45645730 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2030A>G (p.Asn677Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002120429] |
Chr5:45262564 [GRCh38] Chr5:45262666 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.363A>G (p.Glu121=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002122393] |
Chr5:45695731 [GRCh38] Chr5:45695833 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1215G>A (p.Arg405=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002180103] |
Chr5:45396507 [GRCh38] Chr5:45396609 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1230+20G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002120643] |
Chr5:45396472 [GRCh38] Chr5:45396574 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1012-4G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002140579] |
Chr5:45396714 [GRCh38] Chr5:45396816 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2562A>C (p.Arg854=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002182695] |
Chr5:45262032 [GRCh38] Chr5:45262134 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1359C>T (p.Leu453=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002118478] |
Chr5:45353118 [GRCh38] Chr5:45353220 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.687C>T (p.Ser229=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002141334] |
Chr5:45645347 [GRCh38] Chr5:45645449 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.426-12T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002199163] |
Chr5:45645620 [GRCh38] Chr5:45645722 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.90G>T (p.Ala30=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002097894] |
Chr5:45696004 [GRCh38] Chr5:45696106 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1783+17C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002175527] |
Chr5:45267072 [GRCh38] Chr5:45267174 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1783+16A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002217296] |
Chr5:45267073 [GRCh38] Chr5:45267175 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.495A>G (p.Thr165=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002217974] |
Chr5:45645539 [GRCh38] Chr5:45645641 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2487A>G (p.Ala829=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002142458] |
Chr5:45262107 [GRCh38] Chr5:45262209 [GRCh37] Chr5:5p12 |
likely benign |
NC_000005.9:g.(?_45262023)_(45267375_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003109809] |
Chr5:45262023..45267375 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45695973)_(45696385_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003109810] |
Chr5:45695973..45696385 [GRCh37] Chr5:5p12 |
uncertain significance |
NC_000005.9:g.(?_45645267)_(45696195_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003109811] |
Chr5:45645267..45696195 [GRCh37] Chr5:5p12 |
likely benign |
NC_000005.9:g.(?_45267171)_(45696195_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003109812] |
Chr5:45267171..45696195 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.300C>T (p.Ser100=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003111972] |
Chr5:45695794 [GRCh38] Chr5:45695896 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2550C>A (p.Ile850=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003116083] |
Chr5:45262044 [GRCh38] Chr5:45262146 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1485del (p.Gln497fs) |
deletion |
not provided [RCV003129027] |
Chr5:45303732 [GRCh38] Chr5:45303834 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1231-2A>G |
single nucleotide variant |
not provided [RCV003129496] |
Chr5:45353248 [GRCh38] Chr5:45353350 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1377+19834C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV002227679] |
Chr5:45333266 [GRCh38] Chr5:45333368 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.296C>G (p.Thr99Ser) |
single nucleotide variant |
not provided [RCV003152084] |
Chr5:45695798 [GRCh38] Chr5:45695900 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.707T>C (p.Phe236Ser) |
single nucleotide variant |
not provided [RCV003129201] |
Chr5:45645327 [GRCh38] Chr5:45645429 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.849+66420G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV002227720] |
Chr5:45578765 [GRCh38] Chr5:45578867 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.747G>C (p.Lys249Asn) |
single nucleotide variant |
not provided [RCV003154360] |
Chr5:45645287 [GRCh38] Chr5:45645389 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1618+2T>A |
single nucleotide variant |
Seizure [RCV002275463] |
Chr5:45303597 [GRCh38] Chr5:45303699 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1250A>T (p.Tyr417Phe) |
single nucleotide variant |
not provided [RCV002269729] |
Chr5:45353227 [GRCh38] Chr5:45353329 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1606T>G (p.Ser536Ala) |
single nucleotide variant |
Seizure [RCV002275910] |
Chr5:45303611 [GRCh38] Chr5:45303713 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1011+1G>T |
single nucleotide variant |
not provided [RCV002293939] |
Chr5:45461845 [GRCh38] Chr5:45461947 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1690C>G (p.Leu564Val) |
single nucleotide variant |
not provided [RCV002286005] |
Chr5:45267182 [GRCh38] Chr5:45267284 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.223G>C (p.Glu75Gln) |
single nucleotide variant |
not provided [RCV002274573] |
Chr5:45695871 [GRCh38] Chr5:45695973 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1338G>T (p.Glu446Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003096154]|not provided [RCV002273383] |
Chr5:45353139 [GRCh38] Chr5:45353241 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1175A>G (p.His392Arg) |
single nucleotide variant |
not provided [RCV002269595] |
Chr5:45396547 [GRCh38] Chr5:45396649 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1552G>C (p.Gly518Arg) |
single nucleotide variant |
not provided [RCV002269522] |
Chr5:45303665 [GRCh38] Chr5:45303767 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1977C>A (p.Arg659=) |
single nucleotide variant |
not provided [RCV002293120] |
Chr5:45262617 [GRCh38] Chr5:45262719 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1950A>C (p.Thr650=) |
single nucleotide variant |
Inborn genetic diseases [RCV002421521] |
Chr5:45262644 [GRCh38] Chr5:45262746 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2086C>T (p.Pro696Ser) |
single nucleotide variant |
not provided [RCV003131104] |
Chr5:45262508 [GRCh38] Chr5:45262610 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.794T>A (p.Leu265His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV002466332] |
Chr5:45645240 [GRCh38] Chr5:45645342 [GRCh37] Chr5:5p12 |
likely pathogenic |
GRCh37/hg19 5p12-11(chr5:45283312-46389339)x3 |
copy number gain |
not provided [RCV002472448] |
Chr5:45283312..46389339 [GRCh37] Chr5:5p12-11 |
uncertain significance |
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 |
copy number gain |
not provided [RCV002474514] |
Chr5:29348753..46389339 [GRCh37] Chr5:5p13.3-11 |
pathogenic |
NM_021072.4(HCN1):c.416G>A (p.Ser139Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002333390] |
Chr5:45695678 [GRCh38] Chr5:45695780 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV002470623] |
Chr5:45396583 [GRCh38] Chr5:45396685 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1460T>C (p.Met487Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 10 [RCV002471251] |
Chr5:45303757 [GRCh38] Chr5:45303859 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1380G>T (p.Glu460Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002299243] |
Chr5:45303837 [GRCh38] Chr5:45303939 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.177C>A (p.Phe59Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002404045] |
Chr5:45695917 [GRCh38] Chr5:45696019 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.767T>C (p.Ile256Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002400490] |
Chr5:45645267 [GRCh38] Chr5:45645369 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.870T>G (p.Asp290Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002300407] |
Chr5:45461987 [GRCh38] Chr5:45462089 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.208G>C (p.Gly70Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002424033] |
Chr5:45695886 [GRCh38] Chr5:45695988 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1146G>A (p.Gly382=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003099576]|Inborn genetic diseases [RCV002339759] |
Chr5:45396576 [GRCh38] Chr5:45396678 [GRCh37] Chr5:5p12 |
benign|likely benign |
NM_021072.4(HCN1):c.1552G>T (p.Gly518Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002392592] |
Chr5:45303665 [GRCh38] Chr5:45303767 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.157C>T (p.His53Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002392644] |
Chr5:45695937 [GRCh38] Chr5:45696039 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1628T>G (p.Leu543Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002401203] |
Chr5:45267244 [GRCh38] Chr5:45267346 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2339C>T (p.Thr780Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002300402] |
Chr5:45262255 [GRCh38] Chr5:45262357 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1761C>T (p.Ala587=) |
single nucleotide variant |
Inborn genetic diseases [RCV002407610] |
Chr5:45267111 [GRCh38] Chr5:45267213 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.346A>G (p.Ser116Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002300097] |
Chr5:45695748 [GRCh38] Chr5:45695850 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1214G>T (p.Arg405Leu) |
single nucleotide variant |
not provided [RCV002306221] |
Chr5:45396508 [GRCh38] Chr5:45396610 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1605C>T (p.Gly535=) |
single nucleotide variant |
Inborn genetic diseases [RCV002398777] |
Chr5:45303612 [GRCh38] Chr5:45303714 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2488G>T (p.Gly830Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002430890] |
Chr5:45262106 [GRCh38] Chr5:45262208 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.459G>T (p.Met153Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002342343] |
Chr5:45645575 [GRCh38] Chr5:45645677 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.2541G>A (p.Ser847=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433236] |
Chr5:45262053 [GRCh38] Chr5:45262155 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.232G>A (p.Ala78Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002457620] |
Chr5:45695862 [GRCh38] Chr5:45695964 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1369C>G (p.Leu457Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002383646] |
Chr5:45353108 [GRCh38] Chr5:45353210 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2632G>C (p.Asp878His) |
single nucleotide variant |
Inborn genetic diseases [RCV002428574] |
Chr5:45261962 [GRCh38] Chr5:45262064 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.990G>A (p.Trp330Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002382796] |
Chr5:45461867 [GRCh38] Chr5:45461969 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.313G>A (p.Gly105Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002320701] |
Chr5:45695781 [GRCh38] Chr5:45695883 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1231-18A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002681305] |
Chr5:45353264 [GRCh38] Chr5:45353366 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.426-11A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003014005] |
Chr5:45645619 [GRCh38] Chr5:45645721 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1691T>C (p.Leu564Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002750896] |
Chr5:45267181 [GRCh38] Chr5:45267283 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.37A>T (p.Ser13Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003033487] |
Chr5:45696057 [GRCh38] Chr5:45696159 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2064C>T (p.Pro688=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002838547] |
Chr5:45262530 [GRCh38] Chr5:45262632 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2375C>T (p.Ser792Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002686316] |
Chr5:45262219 [GRCh38] Chr5:45262321 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.289C>A (p.Gln97Lys) |
single nucleotide variant |
not provided [RCV002511389] |
Chr5:45695805 [GRCh38] Chr5:45695907 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.425+7G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002972187] |
Chr5:45695662 [GRCh38] Chr5:45695764 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.237G>C (p.Gly79=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002972191] |
Chr5:45695857 [GRCh38] Chr5:45695959 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1036T>C (p.Ser346Pro) |
single nucleotide variant |
not provided [RCV002461746] |
Chr5:45396686 [GRCh38] Chr5:45396788 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.844G>A (p.Glu282Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002816157] |
Chr5:45645190 [GRCh38] Chr5:45645292 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.388G>T (p.Ala130Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002819394] |
Chr5:45695706 [GRCh38] Chr5:45695808 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2528G>T (p.Arg843Leu) |
single nucleotide variant |
not provided [RCV002512267] |
Chr5:45262066 [GRCh38] Chr5:45262168 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2433C>T (p.Ser811=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002861839] |
Chr5:45262161 [GRCh38] Chr5:45262263 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2581C>G (p.Pro861Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002905030] |
Chr5:45262013 [GRCh38] Chr5:45262115 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1875T>A (p.Ile625=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002842159] |
Chr5:45262719 [GRCh38] Chr5:45262821 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.832A>G (p.Ile278Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003014998] |
Chr5:45645202 [GRCh38] Chr5:45645304 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.894T>G (p.Ile298Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003034885] |
Chr5:45461963 [GRCh38] Chr5:45462065 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2063C>T (p.Pro688Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003034566] |
Chr5:45262531 [GRCh38] Chr5:45262633 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1869G>A (p.Lys623=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002819615] |
Chr5:45262725 [GRCh38] Chr5:45262827 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1554T>A (p.Gly518=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002996116] |
Chr5:45303663 [GRCh38] Chr5:45303765 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.327C>T (p.Phe109=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002755382] |
Chr5:45695767 [GRCh38] Chr5:45695869 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.20C>G (p.Pro7Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002904040] |
Chr5:45696074 [GRCh38] Chr5:45696176 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.475A>T (p.Ile159Phe) |
single nucleotide variant |
not provided [RCV002462713] |
Chr5:45645559 [GRCh38] Chr5:45645661 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1377+19A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002756424] |
Chr5:45353081 [GRCh38] Chr5:45353183 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.523T>C (p.Trp175Arg) |
single nucleotide variant |
not provided [RCV002461825] |
Chr5:45645511 [GRCh38] Chr5:45645613 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1955C>G (p.Ser652Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003075816]|Inborn genetic diseases [RCV003086135] |
Chr5:45262639 [GRCh38] Chr5:45262741 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1233T>C (p.Tyr411=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003081410] |
Chr5:45353244 [GRCh38] Chr5:45353346 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1309C>G (p.His437Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003021772] |
Chr5:45353168 [GRCh38] Chr5:45353270 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.425+11_425+12dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002780691] |
Chr5:45695656..45695657 [GRCh38] Chr5:45695758..45695759 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.201T>A (p.Gly67=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002846450] |
Chr5:45695893 [GRCh38] Chr5:45695995 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1949C>T (p.Thr650Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002798005]|not provided [RCV003135238] |
Chr5:45262645 [GRCh38] Chr5:45262747 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.2328C>T (p.Asn776=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003039112] |
Chr5:45262266 [GRCh38] Chr5:45262368 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.826A>C (p.Arg276=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003003057] |
Chr5:45645208 [GRCh38] Chr5:45645310 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1377+19A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003081595] |
Chr5:45353081 [GRCh38] Chr5:45353183 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1230+19C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002756781] |
Chr5:45396473 [GRCh38] Chr5:45396575 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.849+18_849+23del |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002871124] |
Chr5:45645162..45645167 [GRCh38] Chr5:45645264..45645269 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.135C>G (p.Gly45=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002926794] |
Chr5:45695959 [GRCh38] Chr5:45696061 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.203G>A (p.Gly68Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002760439] |
Chr5:45695891 [GRCh38] Chr5:45695993 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.570G>C (p.Leu190=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002870719] |
Chr5:45645464 [GRCh38] Chr5:45645566 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2262G>A (p.Gln754=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002797036] |
Chr5:45262332 [GRCh38] Chr5:45262434 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1449T>A (p.Phe483Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002887892] |
Chr5:45303768 [GRCh38] Chr5:45303870 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.672T>C (p.Val224=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003077836] |
Chr5:45645362 [GRCh38] Chr5:45645464 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1159G>A (p.Ala387Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002866898] |
Chr5:45396563 [GRCh38] Chr5:45396665 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.2459_2460insCCT (p.Thr820_Ala821insLeu) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002620562] |
Chr5:45262134..45262135 [GRCh38] Chr5:45262236..45262237 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1782A>T (p.Ile594=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003079374] |
Chr5:45267090 [GRCh38] Chr5:45267192 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1599A>C (p.Thr533=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002948554] |
Chr5:45303618 [GRCh38] Chr5:45303720 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.549T>C (p.Asp183=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002912452] |
Chr5:45645485 [GRCh38] Chr5:45645587 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.728T>C (p.Met243Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002866683] |
Chr5:45645306 [GRCh38] Chr5:45645408 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1230+4A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002820691] |
Chr5:45396488 [GRCh38] Chr5:45396590 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1095C>G (p.Ala365=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002848208] |
Chr5:45396627 [GRCh38] Chr5:45396729 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2252C>T (p.Pro751Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002739340] |
Chr5:45262342 [GRCh38] Chr5:45262444 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2229G>T (p.Pro743=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003038724] |
Chr5:45262365 [GRCh38] Chr5:45262467 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.214G>A (p.Gly72Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002952907] |
Chr5:45695880 [GRCh38] Chr5:45695982 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2314C>G (p.Gln772Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002926868] |
Chr5:45262280 [GRCh38] Chr5:45262382 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1528A>G (p.Lys510Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002571069] |
Chr5:45303689 [GRCh38] Chr5:45303791 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2036A>G (p.His679Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003100158] |
Chr5:45262558 [GRCh38] Chr5:45262660 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1784-6T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003080468] |
Chr5:45262816 [GRCh38] Chr5:45262918 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1952C>T (p.Ser651Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002780996] |
Chr5:45262642 [GRCh38] Chr5:45262744 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.425+12C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002781552] |
Chr5:45695657 [GRCh38] Chr5:45695759 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1619-9T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002761059] |
Chr5:45267262 [GRCh38] Chr5:45267364 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.58_283del (p.Val20fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003021326] |
Chr5:45695811..45696036 [GRCh38] Chr5:45695913..45696138 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2045G>C (p.Ser682Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003081273] |
Chr5:45262549 [GRCh38] Chr5:45262651 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.840A>G (p.Gln280=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002694883] |
Chr5:45645194 [GRCh38] Chr5:45645296 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.849+8G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002948878] |
Chr5:45645177 [GRCh38] Chr5:45645279 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1696G>T (p.Val566Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002926718] |
Chr5:45267176 [GRCh38] Chr5:45267278 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.357G>T (p.Ala119=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003020724] |
Chr5:45695737 [GRCh38] Chr5:45695839 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.408C>T (p.His136=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002662557] |
Chr5:45695686 [GRCh38] Chr5:45695788 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1005A>G (p.Glu335=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003059679] |
Chr5:45461852 [GRCh38] Chr5:45461954 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.216C>T (p.Gly72=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003043573] |
Chr5:45695878 [GRCh38] Chr5:45695980 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.567C>T (p.Asp189=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002667933] |
Chr5:45645467 [GRCh38] Chr5:45645569 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.951C>T (p.Phe317=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002791239] |
Chr5:45461906 [GRCh38] Chr5:45462008 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.235G>C (p.Gly79Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002597117] |
Chr5:45695859 [GRCh38] Chr5:45695961 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2545G>T (p.Ala849Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002891183] |
Chr5:45262049 [GRCh38] Chr5:45262151 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.149C>T (p.Ala50Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002700286] |
Chr5:45695945 [GRCh38] Chr5:45696047 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.721A>T (p.Lys241Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002852543] |
Chr5:45645313 [GRCh38] Chr5:45645415 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2248C>G (p.Gln750Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003083838] |
Chr5:45262346 [GRCh38] Chr5:45262448 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2237C>T (p.Thr746Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002643425] |
Chr5:45262357 [GRCh38] Chr5:45262459 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.386C>A (p.Thr129Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002890537] |
Chr5:45695708 [GRCh38] Chr5:45695810 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1618+6T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003006304] |
Chr5:45303593 [GRCh38] Chr5:45303695 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.908G>T (p.Gly303Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002830017] |
Chr5:45461949 [GRCh38] Chr5:45462051 [GRCh37] Chr5:5p12 |
likely pathogenic|uncertain significance |
NM_021072.4(HCN1):c.2049C>T (p.Pro683=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002575325] |
Chr5:45262545 [GRCh38] Chr5:45262647 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.201_206del (p.Gly73_Gly74del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002928430] |
Chr5:45695888..45695893 [GRCh38] Chr5:45695990..45695995 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.237G>A (p.Gly79=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002985346] |
Chr5:45695857 [GRCh38] Chr5:45695959 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.850-5A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002918198] |
Chr5:45462012 [GRCh38] Chr5:45462114 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1519G>T (p.Ala507Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002919113] |
Chr5:45303698 [GRCh38] Chr5:45303800 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.106G>C (p.Glu36Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003025090] |
Chr5:45695988 [GRCh38] Chr5:45696090 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.239del (p.Gly80fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003005792] |
Chr5:45695855 [GRCh38] Chr5:45695957 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1914C>T (p.Pro638=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003022520] |
Chr5:45262680 [GRCh38] Chr5:45262782 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.30G>C (p.Ser10=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002957879] |
Chr5:45696064 [GRCh38] Chr5:45696166 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.585G>T (p.Arg195Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003057774] |
Chr5:45645449 [GRCh38] Chr5:45645551 [GRCh37] Chr5:5p12 |
pathogenic |
NM_021072.4(HCN1):c.2475G>A (p.Thr825=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002872046] |
Chr5:45262119 [GRCh38] Chr5:45262221 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2634C>A (p.Asp878Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002930871] |
Chr5:45261960 [GRCh38] Chr5:45262062 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2551C>T (p.Pro851Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003049018] |
Chr5:45262043 [GRCh38] Chr5:45262145 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.145G>A (p.Gly49Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003030121] |
Chr5:45695949 [GRCh38] Chr5:45696051 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1299T>C (p.Asp433=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002602040] |
Chr5:45353178 [GRCh38] Chr5:45353280 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1725A>G (p.Glu575=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002581571] |
Chr5:45267147 [GRCh38] Chr5:45267249 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2640C>A (p.Asp880Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003029003] |
Chr5:45261954 [GRCh38] Chr5:45262056 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1850A>G (p.Gln617Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003061155]|Inborn genetic diseases [RCV003171069] |
Chr5:45262744 [GRCh38] Chr5:45262846 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1618+20C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003045313] |
Chr5:45303579 [GRCh38] Chr5:45303681 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.425+6G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003046635] |
Chr5:45695663 [GRCh38] Chr5:45695765 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1297G>T (p.Asp433Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003045324]|HCN1-related condition [RCV003418710] |
Chr5:45353180 [GRCh38] Chr5:45353282 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1798A>T (p.Ile600Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003047860] |
Chr5:45262796 [GRCh38] Chr5:45262898 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2454C>T (p.Pro818=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002646723] |
Chr5:45262140 [GRCh38] Chr5:45262242 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.414C>T (p.Tyr138=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002792071] |
Chr5:45695680 [GRCh38] Chr5:45695782 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.223_224insTCG (p.Gly74_Glu75insVal) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002598089] |
Chr5:45695870..45695871 [GRCh38] Chr5:45695972..45695973 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2037C>T (p.His679=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002938837] |
Chr5:45262557 [GRCh38] Chr5:45262659 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1632G>C (p.Leu544=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003063786] |
Chr5:45267240 [GRCh38] Chr5:45267342 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1230+11T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002580125] |
Chr5:45396481 [GRCh38] Chr5:45396583 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1809A>G (p.Gln603=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003030322] |
Chr5:45262785 [GRCh38] Chr5:45262887 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2571del (p.Pro858fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002581457] |
Chr5:45262023 [GRCh38] Chr5:45262125 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.426-12dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002900238] |
Chr5:45645619..45645620 [GRCh38] Chr5:45645721..45645722 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.2258C>T (p.Pro753Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002964018] |
Chr5:45262336 [GRCh38] Chr5:45262438 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2066A>C (p.Gln689Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003091580] |
Chr5:45262528 [GRCh38] Chr5:45262630 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.858C>T (p.His286=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002635593] |
Chr5:45461999 [GRCh38] Chr5:45462101 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2055A>G (p.Thr685=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002633669] |
Chr5:45262539 [GRCh38] Chr5:45262641 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2351G>A (p.Arg784Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003092824] |
Chr5:45262243 [GRCh38] Chr5:45262345 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2341C>G (p.Arg781Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002943925] |
Chr5:45262253 [GRCh38] Chr5:45262355 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2492G>T (p.Gly831Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003068224] |
Chr5:45262102 [GRCh38] Chr5:45262204 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.426-19A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002635865] |
Chr5:45645627 [GRCh38] Chr5:45645729 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.403A>G (p.Ile135Val) |
single nucleotide variant |
not provided [RCV003156684] |
Chr5:45695691 [GRCh38] Chr5:45695793 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1231-13C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003071478] |
Chr5:45353259 [GRCh38] Chr5:45353361 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.1539T>C (p.Tyr513=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002583212] |
Chr5:45303678 [GRCh38] Chr5:45303780 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.198C>G (p.Gly66=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002606108] |
Chr5:45695896 [GRCh38] Chr5:45695998 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1618+9A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002607002] |
Chr5:45303590 [GRCh38] Chr5:45303692 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1618+20C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002606623] |
Chr5:45303579 [GRCh38] Chr5:45303681 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2143C>G (p.Arg715Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003050700] |
Chr5:45262451 [GRCh38] Chr5:45262553 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1050C>T (p.Phe350=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002588125] |
Chr5:45396672 [GRCh38] Chr5:45396774 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1970C>T (p.Thr657Ile) |
single nucleotide variant |
not provided [RCV003227337] |
Chr5:45262624 [GRCh38] Chr5:45262726 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.779C>T (p.Thr260Ile) |
single nucleotide variant |
not provided [RCV003223181] |
Chr5:45645255 [GRCh38] Chr5:45645357 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.720A>C (p.Glu240Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 42 [RCV003140627] |
Chr5:45645314 [GRCh38] Chr5:45645416 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.731A>G (p.Asp244Gly) |
single nucleotide variant |
not provided [RCV003135526] |
Chr5:45645303 [GRCh38] Chr5:45645405 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.116T>A (p.Leu39Gln) |
single nucleotide variant |
not provided [RCV003135527] |
Chr5:45695978 [GRCh38] Chr5:45696080 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.907G>A (p.Gly303Ser) |
single nucleotide variant |
not provided [RCV003135525] |
Chr5:45461950 [GRCh38] Chr5:45462052 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.287G>A (p.Arg96Lys) |
single nucleotide variant |
not provided [RCV003135528] |
Chr5:45695807 [GRCh38] Chr5:45695909 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.897del (p.Phe299fs) |
deletion |
not provided [RCV003319797] |
Chr5:45461960 [GRCh38] Chr5:45462062 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1853A>G (p.Glu618Gly) |
single nucleotide variant |
not provided [RCV003329886] |
Chr5:45262741 [GRCh38] Chr5:45262843 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.225_245dup (p.Glu82_Asp83insGluProAlaGlyGlyPheGlu) |
duplication |
Generalized epilepsy with febrile seizures plus, type 10 [RCV003329222] |
Chr5:45695848..45695849 [GRCh38] Chr5:45695950..45695951 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.654A>G (p.Leu218=) |
single nucleotide variant |
not provided [RCV003334272] |
Chr5:45645380 [GRCh38] Chr5:45645482 [GRCh37] Chr5:5p12 |
likely benign|uncertain significance |
NM_021072.4(HCN1):c.1646G>A (p.Arg549His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV003333348]|Generalized epilepsy with febrile seizures plus, type 10 [RCV003333349] |
Chr5:45267226 [GRCh38] Chr5:45267328 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1127T>G (p.Met376Arg) |
single nucleotide variant |
HCN1-Related disorders [RCV003335873] |
Chr5:45396595 [GRCh38] Chr5:45396697 [GRCh37] Chr5:5p12 |
likely pathogenic |
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 |
copy number gain |
See cases [RCV003482191] |
Chr5:29299893..45899898 [GRCh38] Chr5:5p13.3-12 |
likely pathogenic |
NM_021072.4(HCN1):c.45C>T (p.Asp15=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003874592] |
Chr5:45696049 [GRCh38] Chr5:45696151 [GRCh37] Chr5:5p12 |
benign |
NM_021072.4(HCN1):c.336C>T (p.Arg112=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003875538] |
Chr5:45695758 [GRCh38] Chr5:45695860 [GRCh37] Chr5:5p12 |
likely benign |
GRCh37/hg19 5p12(chr5:43680944-45642977)x3 |
copy number gain |
not provided [RCV003484609] |
Chr5:43680944..45642977 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2180T>C (p.Leu727Pro) |
single nucleotide variant |
HCN1-related condition [RCV003391416] |
Chr5:45262414 [GRCh38] Chr5:45262516 [GRCh37] Chr5:5p12 |
uncertain significance |
GRCh37/hg19 5p12-11(chr5:45551410-46389339)x3 |
copy number gain |
not provided [RCV003484610] |
Chr5:45551410..46389339 [GRCh37] Chr5:5p12-11 |
uncertain significance |
NM_021072.4(HCN1):c.2489G>A (p.Gly830Glu) |
single nucleotide variant |
HCN1-related condition [RCV003400426] |
Chr5:45262105 [GRCh38] Chr5:45262207 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2427C>A (p.Gly809=) |
single nucleotide variant |
not provided [RCV003429632] |
Chr5:45262167 [GRCh38] Chr5:45262269 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.704T>C (p.Ile235Thr) |
single nucleotide variant |
not provided [RCV003443232] |
Chr5:45645330 [GRCh38] Chr5:45645432 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1031A>C (p.Gln344Pro) |
single nucleotide variant |
not provided [RCV003443833] |
Chr5:45396691 [GRCh38] Chr5:45396793 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2163C>T (p.Ser721=) |
single nucleotide variant |
not provided [RCV003429633] |
Chr5:45262431 [GRCh38] Chr5:45262533 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2287C>T (p.Pro763Ser) |
single nucleotide variant |
not provided [RCV003443599] |
Chr5:45262307 [GRCh38] Chr5:45262409 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1096C>A (p.Pro366Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 24 [RCV003388259] |
Chr5:45396626 [GRCh38] Chr5:45396728 [GRCh37] Chr5:5p12 |
likely pathogenic |
NM_021072.4(HCN1):c.2455G>A (p.Val819Met) |
single nucleotide variant |
HCN1-related condition [RCV003406157] |
Chr5:45262139 [GRCh38] Chr5:45262241 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1783+545G>A |
single nucleotide variant |
not provided [RCV003427461] |
Chr5:45266544 [GRCh38] Chr5:45266646 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.1545T>C (p.Ile515=) |
single nucleotide variant |
not provided [RCV003428514] |
Chr5:45303672 [GRCh38] Chr5:45303774 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.386C>T (p.Thr129Ile) |
single nucleotide variant |
not provided [RCV003428515] |
Chr5:45695708 [GRCh38] Chr5:45695810 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2050A>C (p.Ser684Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003829970] |
Chr5:45262544 [GRCh38] Chr5:45262646 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.99C>T (p.Ala33=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003877620] |
Chr5:45695995 [GRCh38] Chr5:45696097 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2528G>A (p.Arg843Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003882582] |
Chr5:45262066 [GRCh38] Chr5:45262168 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.1190T>A (p.Ile397Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003880951] |
Chr5:45396532 [GRCh38] Chr5:45396634 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2296G>A (p.Glu766Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003881386] |
Chr5:45262298 [GRCh38] Chr5:45262400 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.2068C>A (p.Pro690Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753294] |
Chr5:45262526 [GRCh38] Chr5:45262628 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.564G>A (p.Leu188=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003850559] |
Chr5:45645470 [GRCh38] Chr5:45645572 [GRCh37] Chr5:5p12 |
likely benign |
NM_021072.4(HCN1):c.2590G>A (p.Ala864Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003810762] |
Chr5:45262004 [GRCh38] Chr5:45262106 [GRCh37] Chr5:5p12 |
uncertain significance |
NM_021072.4(HCN1):c.27T>G (p.Ser9=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003810837] |
Chr5:45696067 [GRCh38] Chr5:45696169 [GRCh37] Chr5:5p12 |
likely benign |