| NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000559027] |
Chr20:63350336 [GRCh38]
Chr20:61981688 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1412T>C (p.Met471Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV004760595]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000551599] |
Chr20:63349999 [GRCh38]
Chr20:61981351 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1178dup (p.Ala394fs) |
duplication |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000557986] |
Chr20:63350232..63350233 [GRCh38]
Chr20:61981584..61981585 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| CHRNA4, 3-BP INS, 776GCT |
insertion |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000019051] |
Chr20:20q13.2-q13.3 |
pathogenic |
| CHRNA4, EX5, C-T |
single nucleotide variant |
Nicotine addiction, protection against [RCV000019053] |
Chr20:20q13.2-q13.3 |
protective |
| CHRNA4, EX5, G-A |
single nucleotide variant |
Nicotine addiction, protection against [RCV000019054] |
Chr20:20q13.2-q13.3 |
protective |
| NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003144376]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000559906] |
Chr20:63349714 [GRCh38]
Chr20:61981066 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.211G>A (p.Ala71Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000549537] |
Chr20:63359565 [GRCh38]
Chr20:61990917 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1527C>T (p.Ala509=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000553736] |
Chr20:63349884 [GRCh38]
Chr20:61981236 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup) |
duplication |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000704051]|not provided [RCV004591459]|not specified [RCV000518397] |
Chr20:63361113..63361114 [GRCh38]
Chr20:61992465..61992466 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.180C>G (p.Asp60Glu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000534619] |
Chr20:63359596 [GRCh38]
Chr20:61990948 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000560700] |
Chr20:63361149 [GRCh38]
Chr20:61992501 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000019050]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001206285]|not provided [RCV000487099] |
Chr20:63350572 [GRCh38]
Chr20:61981924 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000019052]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000692832]|Inborn genetic diseases [RCV002316197]|not provided [RCV000186931] |
Chr20:63350560 [GRCh38]
Chr20:61981912 [GRCh37]
Chr20:20q13.33 |
pathogenic|likely pathogenic |
| NM_000744.6(CHRNA4):c.*3099G>T |
single nucleotide variant |
Lung cancer [RCV000101735] |
Chr20:63343639 [GRCh38]
Chr20:61974991 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000033926]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000462397] |
Chr20:63350404 [GRCh38]
Chr20:61981756 [GRCh37]
Chr20:20q13.33 |
pathogenic|benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) |
microsatellite |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000033927] |
Chr20:63350538..63350539 [GRCh38]
Chr20:61981890..61981891 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.878C>T (p.Thr293Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000033928] |
Chr20:63350533 [GRCh38]
Chr20:61981885 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 |
copy number gain |
Global developmental delay [RCV000051131]|See cases [RCV000051131] |
Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1 |
copy number loss |
See cases [RCV000052768] |
Chr20:62455231..63839491 [GRCh38]
Chr20:61030287..62470844 [GRCh37]
Chr20:60463682..61941288 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 |
copy number loss |
See cases [RCV000052769] |
Chr20:62545370..64241486 [GRCh38]
Chr20:61142577..62872839 [GRCh37]
Chr20:60553022..62343283 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1 |
copy number loss |
See cases [RCV000052771] |
Chr20:63095686..63524980 [GRCh38]
Chr20:61727038..62156333 [GRCh37]
Chr20:61197483..61626777 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 |
copy number gain |
See cases [RCV000053035] |
Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33 |
pathogenic |
| NM_000744.6(CHRNA4):c.1773G>A (p.Trp591Ter) |
single nucleotide variant |
Malignant melanoma [RCV000072752] |
Chr20:63346849 [GRCh38]
Chr20:61978201 [GRCh37]
Chr20:61448645 [NCBI36]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001215154]|Inborn genetic diseases [RCV002426624]|not provided [RCV003221800] |
Chr20:63350329 [GRCh38]
Chr20:61981681 [GRCh37]
Chr20:61452125 [NCBI36]
Chr20:20q13.33 |
uncertain significance|not provided |
| NM_000744.6(CHRNA4):c.885C>T (p.Ile295=) |
single nucleotide variant |
Malignant melanoma [RCV000072754] |
Chr20:63350526 [GRCh38]
Chr20:61981878 [GRCh37]
Chr20:61452322 [NCBI36]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.963C>T (p.Ile321=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000866128]|Inborn genetic diseases [RCV002371904]|Tobacco use disorder [RCV000084632]|not provided [RCV001646990] |
Chr20:63350448 [GRCh38]
Chr20:61981800 [GRCh37]
Chr20:61452244 [NCBI36]
Chr20:20q13.33 |
likely benign|not provided |
| NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001082699]|Inborn genetic diseases [RCV002313868]|not provided [RCV000116721]|not specified [RCV000186613] |
Chr20:63361142 [GRCh38]
Chr20:61992494 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000576630]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001520744]|Inborn genetic diseases [RCV002311566]|not provided [RCV001668190]|not specified [RCV000079310] |
Chr20:63350202 [GRCh38]
Chr20:61981554 [GRCh37]
Chr20:20q13.33 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000576823]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001520743]|Inborn genetic diseases [RCV002311567]|not provided [RCV001675604]|not specified [RCV000079311] |
Chr20:63350184 [GRCh38]
Chr20:61981536 [GRCh37]
Chr20:20q13.33 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV002498395]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000475854]|Inborn genetic diseases [RCV002313752]|not provided [RCV003311679]|not specified [RCV000079312] |
Chr20:63350010 [GRCh38]
Chr20:61981362 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001578892]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001517150]|Inborn genetic diseases [RCV002311568]|Nicotine addiction, protection against [RCV000019053]|not provided [RCV000576445]|not specified [RCV000079313] |
Chr20:63349782 [GRCh38]
Chr20:61981134 [GRCh37]
Chr20:20q13.33 |
benign|conflicting interpretations of pathogenicity|protective|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001578891]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001521000]|Inborn genetic diseases [RCV002311569]|Nicotine addiction, protection against [RCV000019054]|not provided [RCV000576716]|not specified [RCV000079314] |
Chr20:63349752 [GRCh38]
Chr20:61981104 [GRCh37]
Chr20:20q13.33 |
benign|conflicting interpretations of pathogenicity|protective|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.1758+14A>G |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000615210]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055111]|not provided [RCV001668191]|not specified [RCV000079315] |
Chr20:63349639 [GRCh38]
Chr20:61980991 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000576461]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001511256]|Inborn genetic diseases [RCV002311570]|not provided [RCV001711225]|not specified [RCV000079316] |
Chr20:63361115 [GRCh38]
Chr20:63361115..63361116 [GRCh38]
Chr20:61992467 [GRCh37]
Chr20:61992467..61992468 [GRCh37]
Chr20:20q13.33 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.1001C>T (p.Ser334Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001222252]|Tobacco use disorder [RCV000084590] |
Chr20:63350410 [GRCh38]
Chr20:61981762 [GRCh37]
Chr20:20q13.33 |
uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1002G>A (p.Ser334=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003114250]|Tobacco use disorder [RCV000084591] |
Chr20:63350409 [GRCh38]
Chr20:61981761 [GRCh37]
Chr20:20q13.33 |
likely benign|not provided |
| NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001235333]|Intellectual disability [RCV001251719]|Tobacco use disorder [RCV000084592] |
Chr20:63350357 [GRCh38]
Chr20:61981709 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1066C>T (p.Leu356Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002298470]|Tobacco use disorder [RCV000084593] |
Chr20:63350345 [GRCh38]
Chr20:61981697 [GRCh37]
Chr20:20q13.33 |
uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1087G>A (p.Val363Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000707359]|Tobacco use disorder [RCV000084594]|not provided [RCV001704009] |
Chr20:63350324 [GRCh38]
Chr20:61981676 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003144128]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000878156]|Inborn genetic diseases [RCV002513907]|Tobacco use disorder [RCV000084595]|not provided [RCV001507473]|not specified [RCV000186937] |
Chr20:63350302 [GRCh38]
Chr20:61981654 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV002274926]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001062428]|Tobacco use disorder [RCV000084596]|not provided [RCV001719851] |
Chr20:63350242 [GRCh38]
Chr20:61981594 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001196513]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV003114251]|Tobacco use disorder [RCV000084597] |
Chr20:63350227 [GRCh38]
Chr20:61981579 [GRCh37]
Chr20:20q13.33 |
uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1200C>T (p.Ser400=) |
single nucleotide variant |
Tobacco use disorder [RCV000084598] |
Chr20:63350211 [GRCh38]
Chr20:61981563 [GRCh37]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.1224C>T (p.Phe408=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055248]|Tobacco use disorder [RCV000084599] |
Chr20:63350187 [GRCh38]
Chr20:61981539 [GRCh37]
Chr20:20q13.33 |
likely benign|not provided |
| NM_000744.7(CHRNA4):c.1228G>A (p.Val410Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002514505]|Inborn genetic diseases [RCV002316283]|Tobacco use disorder [RCV000084600]|not provided [RCV001090872] |
Chr20:63350183 [GRCh38]
Chr20:61981535 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1265G>A (p.Cys422Tyr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000705309]|Inborn genetic diseases [RCV002444556]|Tobacco use disorder [RCV000084601] |
Chr20:63350146 [GRCh38]
Chr20:61981498 [GRCh37]
Chr20:20q13.33 |
uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1266C>T (p.Cys422=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000698144]|Tobacco use disorder [RCV000084602]|not provided [RCV000186941] |
Chr20:63350145 [GRCh38]
Chr20:61981497 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1311T>C (p.Ala437=) |
single nucleotide variant |
Tobacco use disorder [RCV000084603] |
Chr20:63350100 [GRCh38]
Chr20:61981452 [GRCh37]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.1359C>T (p.His453=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000456365]|Tobacco use disorder [RCV000084604]|not specified [RCV000124289] |
Chr20:63350052 [GRCh38]
Chr20:61981404 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|not provided |
| NM_000744.7(CHRNA4):c.1373C>T (p.Pro458Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000471870]|Inborn genetic diseases [RCV002381409]|Tobacco use disorder [RCV000084605]|not provided [RCV000186906] |
Chr20:63350038 [GRCh38]
Chr20:61981390 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1402G>A (p.Val468Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001854482]|Inborn genetic diseases [RCV002390251]|Tobacco use disorder [RCV000084606]|not provided [RCV000486375] |
Chr20:63350009 [GRCh38]
Chr20:61981361 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1425C>T (p.Gly475=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001787901]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000686697]|Tobacco use disorder [RCV000084607] |
Chr20:63349986 [GRCh38]
Chr20:61981338 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000767931]|Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003224145]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000528520]|Inborn genetic diseases [RCV002316284]|Tobacco use disorder [RCV000084608]|not provided [RCV001529471]|not specified [RCV000186949] |
Chr20:63349951 [GRCh38]
Chr20:61981303 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1625C>T (p.Pro542Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000809113]|Inborn genetic diseases [RCV002399475]|Tobacco use disorder [RCV000084609]|not provided [RCV004791265] |
Chr20:63349786 [GRCh38]
Chr20:61981138 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654320]|Frontotemporal dementia [RCV001847655]|Inborn genetic diseases [RCV002513908]|Tobacco use disorder [RCV000084610]|not provided [RCV000513088] |
Chr20:63349777 [GRCh38]
Chr20:61981129 [GRCh37]
Chr20:20q13.33 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001087085]|CHRNA4-related disorder [RCV003964952]|Inborn genetic diseases [RCV002399476]|Tobacco use disorder [RCV000084611]|not provided [RCV000726373]|not specified [RCV000124293] |
Chr20:63349776 [GRCh38]
Chr20:61981128 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.1662G>A (p.Pro554=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000461578]|Inborn genetic diseases [RCV002316285]|Tobacco use disorder [RCV000084612]|not specified [RCV000124294] |
Chr20:63349749 [GRCh38]
Chr20:61981101 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|not provided |
| NM_000744.7(CHRNA4):c.1711G>A (p.Val571Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000533826]|Tobacco use disorder [RCV000084613]|not provided [RCV001704010] |
Chr20:63349700 [GRCh38]
Chr20:61981052 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001095406]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654323]|Inborn genetic diseases [RCV000190688]|Tobacco use disorder [RCV000084614]|not provided [RCV000186922]|not specified [RCV001844035] |
Chr20:63350969 [GRCh38]
Chr20:61982321 [GRCh37]
Chr20:20q13.33 |
likely pathogenic|likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.461C>T (p.Pro154Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000537667]|Tobacco use disorder [RCV000084615]|not provided [RCV000711166] |
Chr20:63350950 [GRCh38]
Chr20:61982302 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.462G>A (p.Pro154=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000862292]|Tobacco use disorder [RCV000084616]|not specified [RCV000442156] |
Chr20:63350949 [GRCh38]
Chr20:61982301 [GRCh37]
Chr20:20q13.33 |
benign|not provided |
| NM_000744.7(CHRNA4):c.504C>T (p.Phe168=) |
single nucleotide variant |
Tobacco use disorder [RCV000084617] |
Chr20:63350907 [GRCh38]
Chr20:61982259 [GRCh37]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.510C>T (p.Phe170=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001435782]|Tobacco use disorder [RCV000084618]|not specified [RCV000426393] |
Chr20:63350901 [GRCh38]
Chr20:61982253 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|not provided |
| NM_000744.7(CHRNA4):c.585C>G (p.His195Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001064577]|Inborn genetic diseases [RCV004609307]|Tobacco use disorder [RCV000084619] |
Chr20:63350826 [GRCh38]
Chr20:61982178 [GRCh37]
Chr20:20q13.33 |
uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.617G>C (p.Ser206Thr) |
single nucleotide variant |
Tobacco use disorder [RCV000084620] |
Chr20:63350794 [GRCh38]
Chr20:61982146 [GRCh37]
Chr20:20q13.33 |
uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.693G>A (p.Pro231=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055249]|Tobacco use disorder [RCV000084621] |
Chr20:63350718 [GRCh38]
Chr20:61982070 [GRCh37]
Chr20:20q13.33 |
likely benign|not provided |
| NM_000744.7(CHRNA4):c.705T>C (p.Tyr235=) |
single nucleotide variant |
Tobacco use disorder [RCV000084622] |
Chr20:63350706 [GRCh38]
Chr20:61982058 [GRCh37]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.707C>T (p.Ala236Val) |
single nucleotide variant |
Tobacco use disorder [RCV000084623] |
Chr20:63350704 [GRCh38]
Chr20:61982056 [GRCh37]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.729G>A (p.Pro243=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001089173]|CHRNA4-related disorder [RCV003964953]|Tobacco use disorder [RCV000084624]|not provided [RCV000734843]|not specified [RCV000442064] |
Chr20:63350682 [GRCh38]
Chr20:61982034 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.753C>T (p.Ile251=) |
single nucleotide variant |
Tobacco use disorder [RCV000084625] |
Chr20:63350658 [GRCh38]
Chr20:61982010 [GRCh37]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.775T>C (p.Cys259Arg) |
single nucleotide variant |
Tobacco use disorder [RCV000084626] |
Chr20:63350636 [GRCh38]
Chr20:61981988 [GRCh37]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.799C>T (p.Leu267=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000767932]|Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003224146]|Tobacco use disorder [RCV000084627] |
Chr20:63350612 [GRCh38]
Chr20:61981964 [GRCh37]
Chr20:20q13.33 |
uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.858C>T (p.Thr286=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001089074]|Tobacco use disorder [RCV000084628]|not provided [RCV000711167] |
Chr20:63350553 [GRCh38]
Chr20:61981905 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|not provided |
| NM_000744.7(CHRNA4):c.915C>T (p.Leu305=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055250]|Tobacco use disorder [RCV000084629] |
Chr20:63350496 [GRCh38]
Chr20:61981848 [GRCh37]
Chr20:20q13.33 |
likely benign|not provided |
| NM_000744.7(CHRNA4):c.948C>T (p.Phe316=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000548021]|Tobacco use disorder [RCV000084630]|not provided [RCV001815182] |
Chr20:63350463 [GRCh38]
Chr20:61981815 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|not provided |
| NM_000744.7(CHRNA4):c.953C>T (p.Thr318Ile) |
single nucleotide variant |
Tobacco use disorder [RCV000084631] |
Chr20:63350458 [GRCh38]
Chr20:61981810 [GRCh37]
Chr20:20q13.33 |
not provided |
| NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000459840]|Inborn genetic diseases [RCV002313865]|not provided [RCV003430669]|not specified [RCV000116716] |
Chr20:63350364 [GRCh38]
Chr20:61981716 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000474696]|Inborn genetic diseases [RCV002313866]|not provided [RCV003430670]|not specified [RCV000116717] |
Chr20:63350268 [GRCh38]
Chr20:61981620 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000463488]|Inborn genetic diseases [RCV002313867]|not provided [RCV003436930]|not specified [RCV000116718] |
Chr20:63350058 [GRCh38]
Chr20:61981410 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000744.7(CHRNA4):c.1525G>A (p.Ala509Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002512515]|Inborn genetic diseases [RCV000624743]|not provided [RCV000116719] |
Chr20:63349886 [GRCh38]
Chr20:61981238 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000576334]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001522060]|Inborn genetic diseases [RCV002312069]|not provided [RCV001675618]|not specified [RCV000116720] |
Chr20:63359587 [GRCh38]
Chr20:63359587..63359588 [GRCh38]
Chr20:61990939 [GRCh37]
Chr20:61990939..61990940 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001578894]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001520746]|Inborn genetic diseases [RCV002312070]|not provided [RCV000576673]|not specified [RCV000116722] |
Chr20:63350772 [GRCh38]
Chr20:61982124 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001578893]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001520745]|Inborn genetic diseases [RCV002312071]|not provided [RCV000576356]|not specified [RCV000116723] |
Chr20:63350733 [GRCh38]
Chr20:61982085 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000744.7(CHRNA4):c.384-11T>G |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055464]|not specified [RCV000124281] |
Chr20:63351038 [GRCh38]
Chr20:61982390 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001088149]|Inborn genetic diseases [RCV002312545]|not provided [RCV000711165]|not specified [RCV000178802] |
Chr20:63351009 [GRCh38]
Chr20:61982361 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000460929]|Inborn genetic diseases [RCV002316347]|not provided [RCV002510784]|not specified [RCV000178803] |
Chr20:63350433 [GRCh38]
Chr20:61981785 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001080268]|CHRNA4-related disorder [RCV003952645]|Inborn genetic diseases [RCV002316348]|not provided [RCV000724570]|not specified [RCV000186611] |
Chr20:63350208 [GRCh38]
Chr20:61981560 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001085076]|Inborn genetic diseases [RCV002312546]|not provided [RCV000124287]|not specified [RCV000178797] |
Chr20:63350059 [GRCh38]
Chr20:61981411 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.1524C>T (p.Gly508=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000467584]|Inborn genetic diseases [RCV002316349]|not provided [RCV004717001]|not specified [RCV000124291] |
Chr20:63349887 [GRCh38]
Chr20:61981239 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1584G>A (p.Pro528=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000552230]|Inborn genetic diseases [RCV002316350]|not provided [RCV001815197]|not specified [RCV000124292] |
Chr20:63349827 [GRCh38]
Chr20:61981179 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1758+11C>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000462382]|not provided [RCV004717002]|not specified [RCV000124295] |
Chr20:63349642 [GRCh38]
Chr20:61980994 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1758+16G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055465]|not specified [RCV000124296] |
Chr20:63349637 [GRCh38]
Chr20:61980989 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1759-14G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055466]|not provided [RCV004717003]|not specified [RCV000124297] |
Chr20:63346877 [GRCh38]
Chr20:61978229 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.77-4G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001084251]|Inborn genetic diseases [RCV002312822]|not provided [RCV000724230]|not specified [RCV000186612] |
Chr20:63359703 [GRCh38]
Chr20:61991055 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.383+7C>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000865676]|not provided [RCV001572747]|not specified [RCV000178126] |
Chr20:63355968 [GRCh38]
Chr20:61987320 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV002492453]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000470140]|Inborn genetic diseases [RCV002312547]|not provided [RCV002262717]|not specified [RCV000173023] |
Chr20:63361157 [GRCh38]
Chr20:61992509 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.76+18G>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV002483243]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055467]|not provided [RCV004717004]|not specified [RCV000186614] |
Chr20:63361072 [GRCh38]
Chr20:61992424 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000744.7(CHRNA4):c.1119G>A (p.Glu373=) |
single nucleotide variant |
not specified [RCV000602755] |
Chr20:63350292 [GRCh38]
Chr20:61981644 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001348152] |
Chr20:63361152 [GRCh38]
Chr20:61992504 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 |
copy number gain |
See cases [RCV000051131] |
Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:61300817..62379118 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001291637]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001347811] |
Chr20:63349945 [GRCh38]
Chr20:61981297 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1696C>T (p.Arg566Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001312243]|not provided [RCV001531358] |
Chr20:63349715 [GRCh38]
Chr20:61981067 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 |
copy number loss |
See cases [RCV000133842] |
Chr20:62561794..64277321 [GRCh38]
Chr20:61211869..62908674 [GRCh37]
Chr20:60569446..62379118 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 |
copy number gain |
See cases [RCV000135805] |
Chr20:59041966..64277321 [GRCh38]
Chr20:57617021..62908674 [GRCh37]
Chr20:57050416..62379118 [NCBI36]
Chr20:20q13.32-13.33 |
pathogenic |
| GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 |
copy number gain |
See cases [RCV000135859] |
Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1 |
copy number loss |
See cases [RCV000135514] |
Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:61300817..62379118 [NCBI36]
Chr20:20q13.33 |
likely pathogenic |
| GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1 |
copy number loss |
See cases [RCV000137385] |
Chr20:63153963..64277321 [GRCh38]
Chr20:61785315..62908674 [GRCh37]
Chr20:61255760..62379118 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 |
copy number gain |
See cases [RCV000138035] |
Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 |
copy number gain |
See cases [RCV000139100] |
Chr20:61326549..64277326 [GRCh38]
Chr20:59901605..62908679 [GRCh37]
Chr20:59335000..62379123 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 |
copy number gain |
See cases [RCV000141347] |
Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 |
copy number loss |
See cases [RCV000141744] |
Chr20:62582073..64284202 [GRCh38]
Chr20:61179280..62915555 [GRCh37]
Chr20:60589725..62385999 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 |
copy number loss |
See cases [RCV000141676] |
Chr20:62663307..64284202 [GRCh38]
Chr20:61294659..62915555 [GRCh37]
Chr20:60765104..62385999 [NCBI36]
Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 |
copy number gain |
See cases [RCV000143584] |
Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33 |
likely pathogenic |
| NM_000744.7(CHRNA4):c.1842G>A (p.Thr614=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003764938]|not provided [RCV000153032] |
Chr20:63346780 [GRCh38]
Chr20:61978132 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001080175]|Inborn genetic diseases [RCV002317050]|not provided [RCV000724403] |
Chr20:63349957 [GRCh38]
Chr20:61981309 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.868C>T (p.Leu290=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001462536]|not provided [RCV000178799] |
Chr20:63350543 [GRCh38]
Chr20:61981895 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001084657]|CHRNA4-related disorder [RCV003955069]|Inborn genetic diseases [RCV002314648]|not provided [RCV000724231] |
Chr20:63349970 [GRCh38]
Chr20:61981322 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.412C>T (p.Leu138=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001429750]|not provided [RCV000178801] |
Chr20:63350999 [GRCh38]
Chr20:61982351 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.-28C>T |
single nucleotide variant |
not specified [RCV000186916] |
Chr20:63361193 [GRCh38]
Chr20:61992545 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.16C>T (p.Pro6Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001443486]|not provided [RCV000186917] |
Chr20:63361150 [GRCh38]
Chr20:61992502 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.38C>G (p.Pro13Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001068685]|not specified [RCV000186918] |
Chr20:63361128 [GRCh38]
Chr20:61992480 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.53T>G (p.Leu18Arg) |
single nucleotide variant |
not specified [RCV000186920] |
Chr20:63361113 [GRCh38]
Chr20:61992465 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.76+12G>C |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746866] |
Chr20:63361078 [GRCh38]
Chr20:61992430 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.521A>G (p.Asn174Ser) |
single nucleotide variant |
not provided [RCV000186924] |
Chr20:63350890 [GRCh38]
Chr20:61982242 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.544T>C (p.Trp182Arg) |
single nucleotide variant |
not provided [RCV000186925] |
Chr20:63350867 [GRCh38]
Chr20:61982219 [GRCh37]
Chr20:20q13.33 |
likely pathogenic |
| NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000477908]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001087701]|Inborn genetic diseases [RCV002381623]|not provided [RCV000186942] |
Chr20:63350095 [GRCh38]
Chr20:61981447 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1327C>G (p.His443Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000524714]|not provided [RCV000725077] |
Chr20:63350084 [GRCh38]
Chr20:61981436 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1158_1160delinsGGG (p.Glu387Gly) |
indel |
not specified [RCV000186968] |
Chr20:63350251..63350253 [GRCh38]
Chr20:61981603..61981605 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.400G>A (p.Ala134Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001300636]|not provided [RCV000186969] |
Chr20:63351011 [GRCh38]
Chr20:61982363 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.6(CHRNA4):c.407C>T (p.Thr136Ile) |
single nucleotide variant |
not specified [RCV000186970] |
Chr20:63351004 [GRCh38]
Chr20:61982356 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.827C>T (p.Thr276Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001927871] |
Chr20:63350584 [GRCh38]
Chr20:61981936 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1847G>T (p.Gly616Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002517846]|not provided [RCV000186974] |
Chr20:63346775 [GRCh38]
Chr20:61978127 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1095G>A (p.Lys365=) |
single nucleotide variant |
not specified [RCV000186901] |
Chr20:63350316 [GRCh38]
Chr20:61981668 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1116C>T (p.Ile372=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001483213]|Inborn genetic diseases [RCV002433833]|not provided [RCV001200261]|not specified [RCV000186902] |
Chr20:63350295 [GRCh38]
Chr20:61981647 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1334C>T (p.Ser445Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001033970]|not specified [RCV000186904] |
Chr20:63350077 [GRCh38]
Chr20:61981429 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000464341]|Inborn genetic diseases [RCV002312735]|not provided [RCV000997798] |
Chr20:63350051 [GRCh38]
Chr20:61981403 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1420C>T (p.Pro474Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000540333] |
Chr20:63349991 [GRCh38]
Chr20:61981343 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1532C>T (p.Ala511Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746503]|Inborn genetic diseases [RCV002517844]|not specified [RCV000186909] |
Chr20:63349879 [GRCh38]
Chr20:61981231 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1550C>T (p.Ser517Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000532175]|Inborn genetic diseases [RCV002317075]|not provided [RCV001704972] |
Chr20:63349861 [GRCh38]
Chr20:61981213 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001085092]|Inborn genetic diseases [RCV002399695]|not provided [RCV000726687]|not specified [RCV000186911] |
Chr20:63349851 [GRCh38]
Chr20:61981203 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000694555]|not provided [RCV000711163]|not specified [RCV000186913] |
Chr20:63349774 [GRCh38]
Chr20:61981126 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1645C>T (p.Arg549Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000870079]|not specified [RCV000186914] |
Chr20:63349766 [GRCh38]
Chr20:61981118 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.-30C>G |
single nucleotide variant |
not specified [RCV004595416] |
Chr20:63361195 [GRCh38]
Chr20:61992547 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654330]|Inborn genetic diseases [RCV002516982]|not provided [RCV001704973] |
Chr20:63361125 [GRCh38]
Chr20:61992477 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.506C>G (p.Pro169Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002304203]|not provided [RCV000186923] |
Chr20:63350905 [GRCh38]
Chr20:61982257 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034147]|Inborn genetic diseases [RCV002513982]|not provided [RCV001711474]|not specified [RCV004525894] |
Chr20:63350851 [GRCh38]
Chr20:61982203 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.621C>T (p.Gly207=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001421961]|CHRNA4-related disorder [RCV003947566]|not provided [RCV000186928] |
Chr20:63350790 [GRCh38]
Chr20:61982142 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1531G>T (p.Ala511Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034146]|Inborn genetic diseases [RCV003243008]|not provided [RCV003326368]|not specified [RCV000186929] |
Chr20:63349880 [GRCh38]
Chr20:61981232 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001852442]|Inborn genetic diseases [RCV002317076]|not provided [RCV000186930] |
Chr20:63350789 [GRCh38]
Chr20:61982141 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001808464]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002517845]|Inborn genetic diseases [RCV003278686]|not provided [RCV000186932] |
Chr20:63350492 [GRCh38]
Chr20:61981844 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003144150]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001079769]|CHRNA4-related disorder [RCV003917706]|Inborn genetic diseases [RCV002314692]|not provided [RCV000726660] |
Chr20:63350405 [GRCh38]
Chr20:61981757 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1012C>G (p.His338Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034145]|Inborn genetic diseases [RCV003243009]|not provided [RCV001704974]|not specified [RCV004525895] |
Chr20:63350399 [GRCh38]
Chr20:61981751 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001079460]|Inborn genetic diseases [RCV002314693]|not provided [RCV000730294] |
Chr20:63350303 [GRCh38]
Chr20:61981655 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1145C>T (p.Pro382Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001852443]|not provided [RCV000186938] |
Chr20:63350266 [GRCh38]
Chr20:61981618 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1160A>G (p.Glu387Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654346]|CHRNA4-related disorder [RCV003907651]|Inborn genetic diseases [RCV002372144]|not provided [RCV001704975] |
Chr20:63350251 [GRCh38]
Chr20:61981603 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1232C>A (p.Pro411His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746504]|Inborn genetic diseases [RCV002513983]|not provided [RCV000186940] |
Chr20:63350179 [GRCh38]
Chr20:61981531 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1403T>C (p.Val468Ala) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000866412]|not specified [RCV000186944] |
Chr20:63350008 [GRCh38]
Chr20:61981360 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1421C>G (p.Pro474Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001045157]|Inborn genetic diseases [RCV003243010]|not provided [RCV003326369]|not specified [RCV000186945] |
Chr20:63349990 [GRCh38]
Chr20:61981342 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000764255]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001088425]|not provided [RCV000186946] |
Chr20:63349981 [GRCh38]
Chr20:61981333 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000760164]|Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV002485264]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001231085]|not provided [RCV003430734]|not specified [RCV000186947] |
Chr20:63349963 [GRCh38]
Chr20:61981315 [GRCh37]
Chr20:20q13.33 |
benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1510G>A (p.Gly504Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000796150]|not provided [RCV000186950] |
Chr20:63349901 [GRCh38]
Chr20:61981253 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1520C>T (p.Ala507Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000698178]|Inborn genetic diseases [RCV002390488]|not provided [RCV000186951] |
Chr20:63349891 [GRCh38]
Chr20:61981243 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1661C>T (p.Pro554Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000545110] |
Chr20:63349750 [GRCh38]
Chr20:61981102 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1700C>G (p.Ala567Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000685824]|not provided [RCV000186954] |
Chr20:63349711 [GRCh38]
Chr20:61981063 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1700C>T (p.Ala567Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699877]|not provided [RCV000186955] |
Chr20:63349711 [GRCh38]
Chr20:61981063 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000705714]|not provided [RCV000725342] |
Chr20:63349696 [GRCh38]
Chr20:61981048 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1726G>C (p.Asp576His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654336]|not provided [RCV003430735]|not specified [RCV000186958] |
Chr20:63349685 [GRCh38]
Chr20:61981037 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1757C>T (p.Ser586Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699707]|not provided [RCV000224905] |
Chr20:63349654 [GRCh38]
Chr20:61981006 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1825G>A (p.Val609Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654310]|Inborn genetic diseases [RCV002408829]|not provided [RCV001721190] |
Chr20:63346797 [GRCh38]
Chr20:61978149 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003144151]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000808833]|not provided [RCV000186961] |
Chr20:63346761 [GRCh38]
Chr20:61978113 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.88G>A (p.Val30Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001374314]|not provided [RCV000186962] |
Chr20:63359688 [GRCh38]
Chr20:61991040 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000477750]|Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000767933]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654308]|CHRNA4-related disorder [RCV003947567]|Inborn genetic diseases [RCV002314694]|not provided [RCV001090874]|not specified [RCV000186963] |
Chr20:63356084 [GRCh38]
Chr20:61987436 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.283G>A (p.Asp95Asn) |
single nucleotide variant |
not provided [RCV000186964] |
Chr20:63356075 [GRCh38]
Chr20:61987427 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000844908]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001089136]|Inborn genetic diseases [RCV002433834]|not provided [RCV000460546] |
Chr20:63356062 [GRCh38]
Chr20:61987414 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000765490]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000800543]|not provided [RCV000186966] |
Chr20:63356000 [GRCh38]
Chr20:61987352 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.-1C>T |
single nucleotide variant |
CHRNA4-related disorder [RCV003947568]|Inborn genetic diseases [RCV002415802]|not specified [RCV000186967] |
Chr20:63361166 [GRCh38]
Chr20:61992518 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1645C>G (p.Arg549Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001224398]|not provided [RCV000186972] |
Chr20:63349766 [GRCh38]
Chr20:61981118 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1780G>A (p.Val594Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001364896]|Inborn genetic diseases [RCV002513984] |
Chr20:63346842 [GRCh38]
Chr20:61978194 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1859C>T (p.Pro620Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003765166]|not provided [RCV000186975] |
Chr20:63346763 [GRCh38]
Chr20:61978115 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.177G>A (p.Ser59=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000544183] |
Chr20:63359599 [GRCh38]
Chr20:61990951 [GRCh37]
Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1 |
copy number loss |
See cases [RCV000240214] |
Chr20:61827144..62907526 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207130] |
Chr20:60882468..62045494 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207091] |
Chr20:63239482..63415015 [GRCh38]
Chr20:61870834..62046368 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.876C>T (p.Ile292=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000231861]|CHRNA4-related disorder [RCV003955316]|Inborn genetic diseases [RCV002372263]|not provided [RCV001705245]|not specified [RCV000437709] |
Chr20:63350535 [GRCh38]
Chr20:61981887 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000744.7(CHRNA4):c.1867C>T (p.Leu623=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001463901] |
Chr20:63346755 [GRCh38]
Chr20:61978107 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.900A>G (p.Ser300=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001399200] |
Chr20:63350511 [GRCh38]
Chr20:61981863 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1824C>T (p.Ile608=) |
single nucleotide variant |
not provided [RCV000939384]|not specified [RCV000603966] |
Chr20:63346798 [GRCh38]
Chr20:61978150 [GRCh37]
Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:61429900-62293991)x1 |
copy number loss |
See cases [RCV000240573] |
Chr20:61429900..62293991 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.1814T>A (p.Met605Lys) |
single nucleotide variant |
not provided [RCV001507472] |
Chr20:63346808 [GRCh38]
Chr20:61978160 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61977731-62105264)x1 |
copy number loss |
See cases [RCV000240267] |
Chr20:61977731..62105264 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.758C>T (p.Pro253Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583154]|not provided [RCV000287199] |
Chr20:63350653 [GRCh38]
Chr20:61982005 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001850435]|not provided [RCV000325560] |
Chr20:63361122 [GRCh38]
Chr20:61992474 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001334567]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001079088]|Inborn genetic diseases [RCV002519288]|not provided [RCV000261070] |
Chr20:63349916 [GRCh38]
Chr20:61981268 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000471235]|Inborn genetic diseases [RCV002314034]|not provided [RCV001705437]|not specified [RCV000326133] |
Chr20:63350358 [GRCh38]
Chr20:61981710 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1653C>A (p.Thr551=) |
single nucleotide variant |
not provided [RCV000402683] |
Chr20:63349758 [GRCh38]
Chr20:61981110 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1765G>A (p.Glu589Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001397011]|Inborn genetic diseases [RCV004609404]|not provided [RCV000489219] |
Chr20:63346857 [GRCh38]
Chr20:61978209 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.985A>G (p.Asn329Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746528]|not provided [RCV000489588] |
Chr20:63350426 [GRCh38]
Chr20:61981778 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1 |
copy number loss |
not provided [RCV000488148] |
Chr20:61337529..62904501 [GRCh37]
Chr20:20q13.33 |
likely pathogenic |
| NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001082709]|CHRNA4-related disorder [RCV003942685]|Inborn genetic diseases [RCV002314898]|not provided [RCV000727277]|not specified [RCV000516640] |
Chr20:63350730 [GRCh38]
Chr20:61982082 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.552C>T (p.Tyr184=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000868114]|not provided [RCV001704722] |
Chr20:63350859 [GRCh38]
Chr20:61982211 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1500C>A (p.Pro500=) |
single nucleotide variant |
not specified [RCV000605790] |
Chr20:63349911 [GRCh38]
Chr20:61981263 [GRCh37]
Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:61974480-62473704)x3 |
copy number gain |
See cases [RCV000598860] |
Chr20:61974480..62473704 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1517C>A (p.Ala506Asp) |
single nucleotide variant |
not provided [RCV000593121] |
Chr20:63349894 [GRCh38]
Chr20:61981246 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001448241]|not provided [RCV000591242] |
Chr20:63349917 [GRCh38]
Chr20:61981269 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1583C>T (p.Pro528Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001365725]|not specified [RCV000414524] |
Chr20:63349828 [GRCh38]
Chr20:61981180 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.904dup (p.Val302fs) |
duplication |
not provided [RCV000730262] |
Chr20:63350506..63350507 [GRCh38]
Chr20:61981858..61981859 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.229-10G>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001504175]|not provided [RCV000728593] |
Chr20:63356425 [GRCh38]
Chr20:61987777 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1417A>G (p.Ser473Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001472373] |
Chr20:63349994 [GRCh38]
Chr20:61981346 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000764254]|Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000767930]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001089159]|not provided [RCV000523978] |
Chr20:63349744 [GRCh38]
Chr20:61981096 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1369G>A (p.Ala457Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003144250]|not specified [RCV000412744] |
Chr20:63350042 [GRCh38]
Chr20:61981394 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.-25C>T |
single nucleotide variant |
not specified [RCV000413000] |
Chr20:63361190 [GRCh38]
Chr20:61992542 [GRCh37]
Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1 |
copy number loss |
See cases [RCV000446096] |
Chr20:61827144..62907467 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.254C>T (p.Thr85Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654309]|not provided [RCV000444554] |
Chr20:63356390 [GRCh38]
Chr20:61987742 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1564C>T (p.Pro522Ser) |
single nucleotide variant |
not specified [RCV000417573] |
Chr20:63349847 [GRCh38]
Chr20:61981199 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1431G>A (p.Ala477=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000868995]|Inborn genetic diseases [RCV002314135]|not provided [RCV001718817] |
Chr20:63349980 [GRCh38]
Chr20:61981332 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.783C>T (p.Thr261=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001432202]|not provided [RCV001705558] |
Chr20:63350628 [GRCh38]
Chr20:61981980 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1188C>T (p.Ser396=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000865591]|not specified [RCV000421062] |
Chr20:63350223 [GRCh38]
Chr20:61981575 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.162C>T (p.Pro54=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002522662]|not specified [RCV000434625] |
Chr20:63359614 [GRCh38]
Chr20:61990966 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1665C>T (p.Pro555=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000863754]|CHRNA4-related disorder [RCV003970108]|Inborn genetic diseases [RCV002402122]|not provided [RCV003437161]|not specified [RCV000427945] |
Chr20:63349746 [GRCh38]
Chr20:61981098 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.274-13C>G |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746520]|not provided [RCV000442052] |
Chr20:63356097 [GRCh38]
Chr20:61987449 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.858C>G (p.Thr286=) |
single nucleotide variant |
not specified [RCV000418391] |
Chr20:63350553 [GRCh38]
Chr20:61981905 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.229-11C>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002521811]|not specified [RCV000421136] |
Chr20:63356426 [GRCh38]
Chr20:61987778 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1044C>T (p.Phe348=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002059810]|not specified [RCV000424506] |
Chr20:63350367 [GRCh38]
Chr20:61981719 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1050C>T (p.Asp350=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001455461]|Inborn genetic diseases [RCV002402218]|not specified [RCV000424662] |
Chr20:63350361 [GRCh38]
Chr20:61981713 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1212C>T (p.Pro404=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002524759]|not specified [RCV000435350] |
Chr20:63350199 [GRCh38]
Chr20:61981551 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1158C>G (p.Pro386=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654347]|CHRNA4-related disorder [RCV003922704]|Inborn genetic diseases [RCV002365467]|not provided [RCV004717565]|not specified [RCV000428571] |
Chr20:63350253 [GRCh38]
Chr20:61981605 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.255G>A (p.Thr85=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001495768]|Inborn genetic diseases [RCV002429457]|not specified [RCV000442690] |
Chr20:63356389 [GRCh38]
Chr20:61987741 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.273+7G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001479441]|not specified [RCV000442848] |
Chr20:63356364 [GRCh38]
Chr20:61987716 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1395C>G (p.Ser465=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746518]|not specified [RCV000419156] |
Chr20:63350016 [GRCh38]
Chr20:61981368 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.411C>T (p.His137=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001457990]|not specified [RCV000428810] |
Chr20:63351000 [GRCh38]
Chr20:61982352 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.570C>T (p.Asp190=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001405438]|Inborn genetic diseases [RCV002348158]|not specified [RCV000435659] |
Chr20:63350841 [GRCh38]
Chr20:61982193 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-14C>G |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002061356]|not specified [RCV000425427] |
Chr20:63351041 [GRCh38]
Chr20:61982393 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.258C>T (p.Asn86=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000465343]|Inborn genetic diseases [RCV002314134]|not specified [RCV000443106] |
Chr20:63356386 [GRCh38]
Chr20:61987738 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.140G>A (p.Gly47Asp) |
single nucleotide variant |
not provided [RCV000419664] |
Chr20:63359636 [GRCh38]
Chr20:61990988 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1065G>A (p.Leu355=) |
single nucleotide variant |
not specified [RCV000429409] |
Chr20:63350346 [GRCh38]
Chr20:61981698 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.-39G>A |
single nucleotide variant |
not specified [RCV000422345] |
Chr20:63361204 [GRCh38]
Chr20:61992556 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-17G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002065022]|not provided [RCV001720154] |
Chr20:63351044 [GRCh38]
Chr20:61982396 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1245G>A (p.Pro415=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000550813]|Inborn genetic diseases [RCV002392979]|not provided [RCV001703692] |
Chr20:63350166 [GRCh38]
Chr20:61981518 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.225C>T (p.Asp75=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001087760]|Inborn genetic diseases [RCV002314133]|not provided [RCV000711164] |
Chr20:63359551 [GRCh38]
Chr20:61990903 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.*5G>C |
single nucleotide variant |
not provided [RCV001712185] |
Chr20:63346733 [GRCh38]
Chr20:61978085 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.76+14C>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002058889]|not specified [RCV000422621] |
Chr20:63361076 [GRCh38]
Chr20:61992428 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1689C>T (p.Ala563=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001405422]|not specified [RCV000433118] |
Chr20:63349722 [GRCh38]
Chr20:61981074 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1609C>T (p.Pro537Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000467329]|not provided [RCV000433177] |
Chr20:63349802 [GRCh38]
Chr20:61981154 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.591C>T (p.Arg197=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001473770]|not specified [RCV000436642] |
Chr20:63350820 [GRCh38]
Chr20:61982172 [GRCh37]
Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 |
copy number gain |
See cases [RCV000446009] |
Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1443C>T (p.Gly481=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001479034]|not specified [RCV000426457] |
Chr20:63349968 [GRCh38]
Chr20:61981320 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1758+9C>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000869300]|not specified [RCV000429919] |
Chr20:63349644 [GRCh38]
Chr20:61980996 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.618T>C (p.Ser206=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002062434]|not specified [RCV000433542] |
Chr20:63350793 [GRCh38]
Chr20:61982145 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.105C>T (p.His35=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000544661]|Inborn genetic diseases [RCV002402155]|not specified [RCV000430801] |
Chr20:63359671 [GRCh38]
Chr20:61991023 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-9C>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654337]|CHRNA4-related disorder [RCV003950346]|not provided [RCV000433951] |
Chr20:63351036 [GRCh38]
Chr20:61982388 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.42G>A (p.Pro14=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000868391]|Inborn genetic diseases [RCV002328932]|not provided [RCV001703551] |
Chr20:63361124 [GRCh38]
Chr20:61992476 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1062C>T (p.Arg354=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000877126]|not specified [RCV000444710] |
Chr20:63350349 [GRCh38]
Chr20:61981701 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003147482]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001851210]|not provided [RCV000479131] |
Chr20:63350729 [GRCh38]
Chr20:61982081 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1415C>T (p.Ser472Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654295]|Inborn genetic diseases [RCV002313247]|not provided [RCV000483412] |
Chr20:63349996 [GRCh38]
Chr20:61981348 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000764253]|not provided [RCV000483580] |
Chr20:63346830 [GRCh38]
Chr20:61978182 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1738G>A (p.Ala580Thr) |
single nucleotide variant |
not provided [RCV000483609] |
Chr20:63349673 [GRCh38]
Chr20:61981025 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1685C>T (p.Pro562Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001297224]|Inborn genetic diseases [RCV002402416]|not provided [RCV000733199] |
Chr20:63349726 [GRCh38]
Chr20:61981078 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.493G>A (p.Val165Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000470888] |
Chr20:63350918 [GRCh38]
Chr20:61982270 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.718C>T (p.Arg240Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002525902]|not provided [RCV000484246] |
Chr20:63350693 [GRCh38]
Chr20:61982045 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003144275]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000475005]|not provided [RCV000997799] |
Chr20:63350351 [GRCh38]
Chr20:61981703 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.816C>T (p.Gly272=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583162]|not provided [RCV000484638] |
Chr20:63350595 [GRCh38]
Chr20:61981947 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000464089]|not specified [RCV001290671] |
Chr20:63361131 [GRCh38]
Chr20:61992483 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) |
duplication |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003144280]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000795531]|Inborn genetic diseases [RCV002318574]|not provided [RCV000481052] |
Chr20:63361116..63361117 [GRCh38]
Chr20:61992468..61992469 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001334565]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001213400]|Inborn genetic diseases [RCV002436532]|not provided [RCV000481191] |
Chr20:63350305 [GRCh38]
Chr20:61981657 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000457176]|Inborn genetic diseases [RCV002356703]|not specified [RCV003479130] |
Chr20:63350191 [GRCh38]
Chr20:61981543 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.961A>G (p.Ile321Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000526429]|Inborn genetic diseases [RCV004609398]|not provided [RCV000481426] |
Chr20:63350450 [GRCh38]
Chr20:61981802 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1294C>T (p.Gln432Ter) |
single nucleotide variant |
not provided [RCV000481490] |
Chr20:63350117 [GRCh38]
Chr20:61981469 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1227_1228inv (p.Val410Ile) |
inversion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000457560]|not provided [RCV003329286] |
Chr20:63350183..63350184 [GRCh38]
Chr20:61981535..61981536 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000555199]|not provided [RCV000482050] |
Chr20:63349952 [GRCh38]
Chr20:61981304 [GRCh37]
Chr20:20q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.1682C>T (p.Ser561Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001051017]|not provided [RCV000486388] |
Chr20:63349729 [GRCh38]
Chr20:61981081 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1860G>A (p.Pro620=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002063686] |
Chr20:63346762 [GRCh38]
Chr20:61978114 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV002496845]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001087223]|Inborn genetic diseases [RCV002311796]|not provided [RCV000767315] |
Chr20:63350919 [GRCh38]
Chr20:61982271 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|not provided |
| NM_000744.7(CHRNA4):c.1667C>T (p.Pro556Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000697063]|not provided [RCV000486486] |
Chr20:63349744 [GRCh38]
Chr20:61981096 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1376G>A (p.Gly459Glu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000539550]|Inborn genetic diseases [RCV003352887]|not provided [RCV001704630] |
Chr20:63350035 [GRCh38]
Chr20:61981387 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.479C>T (p.Ser160Phe) |
single nucleotide variant |
not provided [RCV000482597] |
Chr20:63350932 [GRCh38]
Chr20:61982284 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1209_1210delinsTT (p.Pro404Ser) |
indel |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746525]|not specified [RCV000482601] |
Chr20:63350201..63350202 [GRCh38]
Chr20:61981553..61981554 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1161G>C (p.Glu387Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002525897]|not provided [RCV000486918] |
Chr20:63350250 [GRCh38]
Chr20:61981602 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1726G>A (p.Asp576Asn) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000462150] |
Chr20:63349685 [GRCh38]
Chr20:61981037 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1576C>T (p.Pro526Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000546487]|not provided [RCV000482858] |
Chr20:63349835 [GRCh38]
Chr20:61981187 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.6(CHRNA4):c.1227_1228delTGinsCA (p.Val410Ile) |
indel |
not specified [RCV000482946] |
Chr20:63350183..63350184 [GRCh38]
Chr20:61981535..61981536 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1269G>C (p.Lys423Asn) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000696188]|not specified [RCV000487092] |
Chr20:63350142 [GRCh38]
Chr20:61981494 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1277C>T (p.Ser426Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003766676]|not provided [RCV000478601] |
Chr20:63350134 [GRCh38]
Chr20:61981486 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.144CAA[1] (p.Asn49del) |
microsatellite |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003105920]|not provided [RCV000478889] |
Chr20:63359627..63359629 [GRCh38]
Chr20:61990979..61990981 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1117G>A (p.Glu373Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001041676]|not provided [RCV000478916] |
Chr20:63350294 [GRCh38]
Chr20:61981646 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1484G>C (p.Arg495Pro) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654314]|Inborn genetic diseases [RCV004023124]|not provided [RCV001722387] |
Chr20:63349927 [GRCh38]
Chr20:61981279 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1 |
copy number loss |
See cases [RCV000510189] |
Chr20:61884113..62915555 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.212C>T (p.Ala71Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001053897]|not provided [RCV000498928] |
Chr20:63359564 [GRCh38]
Chr20:61990916 [GRCh37]
Chr20:20q13.33 |
pathogenic|uncertain significance |
| NM_000744.7(CHRNA4):c.1354C>T (p.Pro452Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003485594]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001851373]|not provided [RCV000497718] |
Chr20:63350057 [GRCh38]
Chr20:61981409 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.692C>T (p.Pro231Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001361985]|not provided [RCV000494638] |
Chr20:63350719 [GRCh38]
Chr20:61982071 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 |
copy number gain |
See cases [RCV000511980] |
Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33 |
likely pathogenic |
| NM_000744.7(CHRNA4):c.1138A>G (p.Ser380Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001482279]|Inborn genetic diseases [RCV002311809]|not provided [RCV000493059] |
Chr20:63350273 [GRCh38]
Chr20:61981625 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61602977-62450998)x3 |
copy number gain |
See cases [RCV000511879] |
Chr20:61602977..62450998 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 |
copy number gain |
See cases [RCV000510832] |
Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.1148G>A (p.Arg383His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000547834]|not provided [RCV001566499] |
Chr20:63350263 [GRCh38]
Chr20:61981615 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.840C>T (p.Ser280=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001496498]|not specified [RCV000601776] |
Chr20:63350571 [GRCh38]
Chr20:61981923 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.466A>G (p.Ile156Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746549]|not provided [RCV000597220] |
Chr20:63350945 [GRCh38]
Chr20:61982297 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.186C>T (p.Val62=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001487492]|not provided [RCV001698464] |
Chr20:63359590 [GRCh38]
Chr20:61990942 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.786G>A (p.Val262=) |
single nucleotide variant |
not provided [RCV001698445] |
Chr20:63350625 [GRCh38]
Chr20:61981977 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.567C>T (p.Ile189=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001487368]|not specified [RCV000615025] |
Chr20:63350844 [GRCh38]
Chr20:61982196 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.219C>T (p.Leu73=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002063324]|not provided [RCV001697479] |
Chr20:63359557 [GRCh38]
Chr20:61990909 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1683G>A (p.Ser561=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001474390]|not specified [RCV000609773] |
Chr20:63349728 [GRCh38]
Chr20:61981080 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.135C>T (p.Phe45=) |
single nucleotide variant |
not specified [RCV000612602] |
Chr20:63359641 [GRCh38]
Chr20:61990993 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001036986]|not specified [RCV000615300] |
Chr20:63361150 [GRCh38]
Chr20:61992502 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NC_000020.10:g.(?_61977556)_(62159505_?)del |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000537451]|Developmental and epileptic encephalopathy, 33 [RCV001374027]|Early infantile epileptic encephalopathy with suppression bursts [RCV001384415] |
Chr20:61977556..62159505 [GRCh37]
Chr20:20q13.33 |
pathogenic|uncertain significance|no classifications from unflagged records |
| NM_000744.7(CHRNA4):c.964G>A (p.Val322Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001467945] |
Chr20:63350447 [GRCh38]
Chr20:61981799 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV004799221]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000687377]|Inborn genetic diseases [RCV002317347]|not provided [RCV001704724] |
Chr20:63349873 [GRCh38]
Chr20:61981225 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1440C>T (p.Gly480=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034445]|not specified [RCV000613355] |
Chr20:63349971 [GRCh38]
Chr20:61981323 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-18C>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002529431]|not specified [RCV000616675] |
Chr20:63351045 [GRCh38]
Chr20:61982397 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.383+15_383+32del |
microsatellite |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002062819]|not specified [RCV000613638] |
Chr20:63355943..63355960 [GRCh38]
Chr20:61987295..61987312 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1670A>C (p.His557Pro) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654297]|not provided [RCV001550868] |
Chr20:63349741 [GRCh38]
Chr20:61981093 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654299] |
Chr20:63350354 [GRCh38]
Chr20:61981706 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.193C>T (p.Arg65Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654303] |
Chr20:63359583 [GRCh38]
Chr20:61990935 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.181G>T (p.Val61Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654305] |
Chr20:63359595 [GRCh38]
Chr20:61990947 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.678_679inv (p.Ala227Thr) |
inversion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654306] |
Chr20:63350732..63350733 [GRCh38]
Chr20:61982084..61982085 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1196A>G (p.Gln399Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654315]|Inborn genetic diseases [RCV004025932] |
Chr20:63350215 [GRCh38]
Chr20:61981567 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1033C>T (p.Arg345Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654316] |
Chr20:63350378 [GRCh38]
Chr20:61981730 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.880G>A (p.Glu294Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654326] |
Chr20:63350531 [GRCh38]
Chr20:61981883 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1083G>A (p.Pro361=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654331]|not provided [RCV001546008] |
Chr20:63350328 [GRCh38]
Chr20:61981680 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.537C>T (p.Phe179=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001457684]|not provided [RCV000654332] |
Chr20:63350874 [GRCh38]
Chr20:61982226 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.777C>T (p.Cys259=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654333] |
Chr20:63350634 [GRCh38]
Chr20:61981986 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.912A>G (p.Pro304=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654334] |
Chr20:63350499 [GRCh38]
Chr20:61981851 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.879C>T (p.Thr293=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654338]|Inborn genetic diseases [RCV002315897]|not provided [RCV001712614] |
Chr20:63350532 [GRCh38]
Chr20:61981884 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.438C>T (p.Asp146=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000869627]|not specified [RCV000610991] |
Chr20:63350973 [GRCh38]
Chr20:61982325 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.345C>T (p.Ser115=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000527898]|Inborn genetic diseases [RCV002456258]|not provided [RCV001555411] |
Chr20:63356013 [GRCh38]
Chr20:61987365 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1104C>T (p.Cys368=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654342] |
Chr20:63350307 [GRCh38]
Chr20:61981659 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.132C>T (p.Leu44=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654349] |
Chr20:63359644 [GRCh38]
Chr20:61990996 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.77-10C>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654355] |
Chr20:63359709 [GRCh38]
Chr20:61991061 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.828G>A (p.Thr276=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654357]|not provided [RCV001672920] |
Chr20:63350583 [GRCh38]
Chr20:61981935 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.372C>T (p.Val124=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654358] |
Chr20:63355986 [GRCh38]
Chr20:61987338 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1658C>T (p.Ala553Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001464870] |
Chr20:63349753 [GRCh38]
Chr20:61981105 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.138C>T (p.Ser46=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000767934]|Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003224347]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002063939]|Inborn genetic diseases [RCV002317353]|not provided [RCV001697933] |
Chr20:63359638 [GRCh38]
Chr20:61990990 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1732C>T (p.Leu578=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001398303]|not specified [RCV000608960] |
Chr20:63349679 [GRCh38]
Chr20:61981031 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.77-5del |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034343]|not specified [RCV000614837] |
Chr20:63359704 [GRCh38]
Chr20:61991056 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.-30C>A |
single nucleotide variant |
not specified [RCV000603765] |
Chr20:63361195 [GRCh38]
Chr20:61992547 [GRCh37]
Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) |
copy number gain |
See cases [RCV000512450] |
Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034411]|Inborn genetic diseases [RCV002317905]|not provided [RCV000658196] |
Chr20:63350138 [GRCh38]
Chr20:61981490 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1191C>T (p.Gly397=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314470] |
Chr20:63350220 [GRCh38]
Chr20:61981572 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.99G>C (p.Arg33=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000866985]|Inborn genetic diseases [RCV002314456] |
Chr20:63359677 [GRCh38]
Chr20:61991029 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1144C>T (p.Pro382Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002314469] |
Chr20:63350267 [GRCh38]
Chr20:61981619 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1500C>T (p.Pro500=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002067019]|Inborn genetic diseases [RCV002316153] |
Chr20:63349911 [GRCh38]
Chr20:61981263 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1249G>A (p.Glu417Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746553]|Inborn genetic diseases [RCV002314364] |
Chr20:63350162 [GRCh38]
Chr20:61981514 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.839C>G (p.Ser280Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000700598] |
Chr20:63350572 [GRCh38]
Chr20:61981924 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61658787-62070966)x3 |
copy number gain |
not provided [RCV000684115] |
Chr20:61658787..62070966 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61815143-62318983)x1 |
copy number loss |
not provided [RCV000684118] |
Chr20:61815143..62318983 [GRCh37]
Chr20:20q13.33 |
pathogenic|likely pathogenic |
| NM_000744.7(CHRNA4):c.77C>T (p.Ala26Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000701713]|not provided [RCV004777847] |
Chr20:63359699 [GRCh38]
Chr20:61991051 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000685645]|Inborn genetic diseases [RCV003380672]|not provided [RCV004773084] |
Chr20:63346768 [GRCh38]
Chr20:61978120 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup) |
duplication |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000700799] |
Chr20:63361122..63361123 [GRCh38]
Chr20:61992474..61992475 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1214C>T (p.Ser405Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000692905] |
Chr20:63350197 [GRCh38]
Chr20:61981549 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.98G>C (p.Arg33Pro) |
single nucleotide variant |
not provided [RCV000711168] |
Chr20:63359678 [GRCh38]
Chr20:61991030 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.229-10G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000707178]|not provided [RCV001759422]|not specified [RCV004768599] |
Chr20:63356425 [GRCh38]
Chr20:61987777 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1369G>C (p.Ala457Pro) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000689729] |
Chr20:63350042 [GRCh38]
Chr20:61981394 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1522G>A (p.Gly508Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000687728]|Inborn genetic diseases [RCV002388209] |
Chr20:63349889 [GRCh38]
Chr20:61981241 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1748_1749del (p.Thr583fs) |
microsatellite |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000693367] |
Chr20:63349662..63349663 [GRCh38]
Chr20:61981014..61981015 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1535C>G (p.Ser512Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000688432]|Inborn genetic diseases [RCV002397379] |
Chr20:63349876 [GRCh38]
Chr20:61981228 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.373C>T (p.Leu125Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000706128] |
Chr20:63355985 [GRCh38]
Chr20:61987337 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.176C>T (p.Ser59Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000700450]|not provided [RCV002510964] |
Chr20:63359600 [GRCh38]
Chr20:61990952 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1537C>T (p.Arg513Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000700451] |
Chr20:63349874 [GRCh38]
Chr20:61981226 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1385A>C (p.Lys462Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000706463] |
Chr20:63350026 [GRCh38]
Chr20:61981378 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NC_000020.10:g.(?_61977556)_(62065276_?)del |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000708464]|Early infantile epileptic encephalopathy with suppression bursts [RCV001389625] |
Chr20:61977556..62065276 [GRCh37]
Chr20:20q13.33 |
pathogenic|uncertain significance |
| NM_000744.7(CHRNA4):c.640G>A (p.Ala214Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001731898]|not provided [RCV001548252] |
Chr20:63350771 [GRCh38]
Chr20:61982123 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.727C>A (p.Pro243Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000697543] |
Chr20:63350684 [GRCh38]
Chr20:61982036 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.413T>A (p.Leu138Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000707009] |
Chr20:63350998 [GRCh38]
Chr20:61982350 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1300C>A (p.Pro434Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000695667] |
Chr20:63350111 [GRCh38]
Chr20:61981463 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000704971]|CHRNA4-related disorder [RCV003411644]|Inborn genetic diseases [RCV002458305] |
Chr20:63355996 [GRCh38]
Chr20:61987348 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000702830]|Inborn genetic diseases [RCV002397463]|Seizure [RCV000781970]|not provided [RCV000991787] |
Chr20:63349690 [GRCh38]
Chr20:61981042 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.683A>T (p.Glu228Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000700760] |
Chr20:63350728 [GRCh38]
Chr20:61982080 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000691999] |
Chr20:63356415 [GRCh38]
Chr20:61987767 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.712G>A (p.Val238Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001502207] |
Chr20:63350699 [GRCh38]
Chr20:61982051 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.481T>C (p.Cys161Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV004813513] |
Chr20:63350930 [GRCh38]
Chr20:61982282 [GRCh37] |
likely pathogenic |
| NM_000744.7(CHRNA4):c.1551G>A (p.Ser517=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001079290]|Inborn genetic diseases [RCV002313485]|not provided [RCV000827194] |
Chr20:63349860 [GRCh38]
Chr20:61981212 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.200G>A (p.Gly67Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001862058]|Inborn genetic diseases [RCV002318619] |
Chr20:63359576 [GRCh38]
Chr20:61990928 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1596A>G (p.Thr532=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002067058]|Inborn genetic diseases [RCV002317558] |
Chr20:63349815 [GRCh38]
Chr20:61981167 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.931C>T (p.Leu311=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001426662]|Inborn genetic diseases [RCV002317593] |
Chr20:63350480 [GRCh38]
Chr20:61981832 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.852G>A (p.Ser284=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001410327]|Inborn genetic diseases [RCV002318270]|not provided [RCV001311996] |
Chr20:63350559 [GRCh38]
Chr20:61981911 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.971C>T (p.Thr324Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001055739]|Inborn genetic diseases [RCV002318338]|not provided [RCV003736898] |
Chr20:63350440 [GRCh38]
Chr20:61981792 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 |
copy number gain |
not provided [RCV000741059] |
Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 |
copy number gain |
not provided [RCV000741328] |
Chr20:60053234..62961294 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 |
copy number gain |
not provided [RCV000741329] |
Chr20:60063645..62961294 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 |
copy number gain |
not provided [RCV000741057] |
Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 |
copy number gain |
not provided [RCV000741058] |
Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.77-169_77-168del |
microsatellite |
not provided [RCV001646026] |
Chr20:63359867..63359868 [GRCh38]
Chr20:61991219..61991220 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.229-26G>A |
single nucleotide variant |
not provided [RCV001680392] |
Chr20:63356441 [GRCh38]
Chr20:61987793 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.801G>A (p.Leu267=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000872340] |
Chr20:63350610 [GRCh38]
Chr20:61981962 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.383+198G>A |
single nucleotide variant |
not provided [RCV001535187] |
Chr20:63355777 [GRCh38]
Chr20:61987129 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-208_384-203del |
deletion |
not provided [RCV001566302] |
Chr20:63351230..63351235 [GRCh38]
Chr20:61982582..61982587 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001706784] |
Chr20:63350932 [GRCh38]
Chr20:61982284 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.199G>A (p.Gly67Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002533903]|not provided [RCV000762353] |
Chr20:63359577 [GRCh38]
Chr20:61990929 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1061G>A (p.Arg354His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001066471]|Inborn genetic diseases [RCV002411594] |
Chr20:63350350 [GRCh38]
Chr20:61981702 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.384-98T>C |
single nucleotide variant |
not provided [RCV001566415] |
Chr20:63351125 [GRCh38]
Chr20:61982477 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.997C>T (p.Arg333Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001348171]|not specified [RCV001095403] |
Chr20:63350414 [GRCh38]
Chr20:61981766 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.77-230CA[19] |
microsatellite |
not provided [RCV001566934] |
Chr20:63359897..63359898 [GRCh38]
Chr20:61991249..61991250 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-125dup |
duplication |
not provided [RCV001566976] |
Chr20:63351150..63351151 [GRCh38]
Chr20:61982502..61982503 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.602T>G (p.Leu201Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001045446] |
Chr20:63350809 [GRCh38]
Chr20:61982161 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 |
copy number loss |
not provided [RCV001007103] |
Chr20:61152321..62915555 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.1189G>A (p.Gly397Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002072035]|Inborn genetic diseases [RCV002334596]|not provided [RCV001550277] |
Chr20:63350222 [GRCh38]
Chr20:61981574 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NC_000020.11:g.(?_63346204)_(63361854_?)dup |
duplication |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001031784] |
Chr20:61977556..61993206 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.198C>T (p.Phe66=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000981560] |
Chr20:63359578 [GRCh38]
Chr20:61990930 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.669C>T (p.Tyr223=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000866368]|not provided [RCV002292590] |
Chr20:63350742 [GRCh38]
Chr20:61982094 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1337C>T (p.Pro446Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583191] |
Chr20:63350074 [GRCh38]
Chr20:61981426 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1158C>T (p.Pro386=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000863487]|Inborn genetic diseases [RCV002352513]|not provided [RCV001566763] |
Chr20:63350253 [GRCh38]
Chr20:61981605 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-8C>G |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000870190] |
Chr20:63351035 [GRCh38]
Chr20:61982387 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.126G>A (p.Lys42=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000870632]|not provided [RCV001572155] |
Chr20:63359650 [GRCh38]
Chr20:61991002 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.1221C>T (p.Ser407=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001503261] |
Chr20:63350190 [GRCh38]
Chr20:61981542 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1779C>T (p.Tyr593=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002536756] |
Chr20:63346843 [GRCh38]
Chr20:61978195 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.414G>A (p.Leu138=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001416525] |
Chr20:63350997 [GRCh38]
Chr20:61982349 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup) |
duplication |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001055517]|not provided [RCV004590066] |
Chr20:63361108..63361109 [GRCh38]
Chr20:61992460..61992461 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.401C>T (p.Ala134Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001056581]|Inborn genetic diseases [RCV002355046] |
Chr20:63351010 [GRCh38]
Chr20:61982362 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1183A>G (p.Thr395Ala) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001037972] |
Chr20:63350228 [GRCh38]
Chr20:61981580 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV002489657]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001059426] |
Chr20:63361153 [GRCh38]
Chr20:61992505 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NC_000020.10:g.(?_61977556)_(62046499_?)del |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001033830] |
Chr20:61977556..62046499 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.921C>T (p.Gly307=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001057396] |
Chr20:63350490 [GRCh38]
Chr20:61981842 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.979G>A (p.Val327Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001095404]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001036363]|not provided [RCV004720043] |
Chr20:63350432 [GRCh38]
Chr20:61981784 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.437A>G (p.Asp146Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001054220] |
Chr20:63350974 [GRCh38]
Chr20:61982326 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.194G>A (p.Arg65His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001060724] |
Chr20:63359582 [GRCh38]
Chr20:61990934 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) |
copy number gain |
not provided [RCV000767669] |
Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.844C>G (p.Leu282Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000809679] |
Chr20:63350567 [GRCh38]
Chr20:61981919 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.384-232ACGTGG[3] |
microsatellite |
not provided [RCV000836131] |
Chr20:63351236..63351241 [GRCh38]
Chr20:61982588..61982593 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.77-303G>C |
single nucleotide variant |
not provided [RCV000827901] |
Chr20:63360002 [GRCh38]
Chr20:63360002..63360003 [GRCh38]
Chr20:61991354 [GRCh37]
Chr20:61991354..61991355 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.590G>A (p.Arg197His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000817600] |
Chr20:63350821 [GRCh38]
Chr20:61982173 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.369C>T (p.Ile123=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002548406] |
Chr20:63355989 [GRCh38]
Chr20:61987341 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.39G>A (p.Pro13=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000938319] |
Chr20:63361127 [GRCh38]
Chr20:61992479 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1209G>A (p.Pro403=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001463463] |
Chr20:63350202 [GRCh38]
Chr20:61981554 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1841C>T (p.Thr614Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746672]|not provided [RCV003313437] |
Chr20:63346781 [GRCh38]
Chr20:61978133 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1646G>A (p.Arg549His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001869281]|not provided [RCV000839544] |
Chr20:63349765 [GRCh38]
Chr20:61981117 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.76+157T>G |
single nucleotide variant |
not provided [RCV000839609] |
Chr20:63360933 [GRCh38]
Chr20:63360933..63360934 [GRCh38]
Chr20:61992285 [GRCh37]
Chr20:61992285..61992286 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.77-250T>G |
single nucleotide variant |
not provided [RCV000839610] |
Chr20:63359949 [GRCh38]
Chr20:61991301 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-232A>G |
single nucleotide variant |
not provided [RCV000839612] |
Chr20:63351259 [GRCh38]
Chr20:61982611 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-213C>T |
single nucleotide variant |
not provided [RCV000839613] |
Chr20:63351240 [GRCh38]
Chr20:61982592 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-208G>A |
single nucleotide variant |
not provided [RCV000839614] |
Chr20:63351235 [GRCh38]
Chr20:61982587 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-207T>C |
single nucleotide variant |
not provided [RCV000839615] |
Chr20:63351234 [GRCh38]
Chr20:61982586 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-202A>C |
single nucleotide variant |
not provided [RCV000839616] |
Chr20:63351229 [GRCh38]
Chr20:61982581 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-201T>C |
single nucleotide variant |
not provided [RCV000839617] |
Chr20:63351228 [GRCh38]
Chr20:61982580 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-199T>G |
single nucleotide variant |
not provided [RCV000839618] |
Chr20:63351226 [GRCh38]
Chr20:61982578 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-196G>A |
single nucleotide variant |
not provided [RCV000839619] |
Chr20:63351223 [GRCh38]
Chr20:61982575 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-194G>A |
single nucleotide variant |
not provided [RCV000839620] |
Chr20:63351221 [GRCh38]
Chr20:61982573 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-189C>T |
single nucleotide variant |
not provided [RCV000839621] |
Chr20:63351216 [GRCh38]
Chr20:61982568 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-184A>G |
single nucleotide variant |
not provided [RCV000839622] |
Chr20:63351211 [GRCh38]
Chr20:61982563 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1139G>A (p.Ser380Asn) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000818524] |
Chr20:63350272 [GRCh38]
Chr20:61981624 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.229-163T>C |
single nucleotide variant |
not provided [RCV000840026] |
Chr20:63356578 [GRCh38]
Chr20:61987930 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.448C>T (p.Gln150Ter) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000799184] |
Chr20:63350963 [GRCh38]
Chr20:61982315 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.589C>T (p.Arg197Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000794741]|not provided [RCV001564634] |
Chr20:63350822 [GRCh38]
Chr20:61982174 [GRCh37]
Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000744.7(CHRNA4):c.77-90C>T |
single nucleotide variant |
not provided [RCV000829920] |
Chr20:63359789 [GRCh38]
Chr20:61991141 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-313G>A |
single nucleotide variant |
not provided [RCV000826867] |
Chr20:63351340 [GRCh38]
Chr20:61982692 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000811097]|not provided [RCV001766694] |
Chr20:63361146 [GRCh38]
Chr20:61992498 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV003485649]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000814401] |
Chr20:63349964 [GRCh38]
Chr20:61981316 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.229-294C>T |
single nucleotide variant |
not provided [RCV000827946] |
Chr20:63356709 [GRCh38]
Chr20:61988061 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1677C>T (p.Pro559=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001426273]|not provided [RCV000828427] |
Chr20:63349734 [GRCh38]
Chr20:61981086 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.77-235C>T |
single nucleotide variant |
not provided [RCV000838500] |
Chr20:63359934 [GRCh38]
Chr20:61991286 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.77-102G>C |
single nucleotide variant |
not provided [RCV000834528] |
Chr20:63359801 [GRCh38]
Chr20:61991153 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-177T>C |
single nucleotide variant |
not provided [RCV000838779] |
Chr20:63351204 [GRCh38]
Chr20:61982556 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-171T>C |
single nucleotide variant |
not provided [RCV000838780] |
Chr20:63351198 [GRCh38]
Chr20:61982550 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-166G>A |
single nucleotide variant |
not provided [RCV000838781] |
Chr20:63351193 [GRCh38]
Chr20:61982545 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-157A>G |
single nucleotide variant |
not provided [RCV000838782] |
Chr20:63351184 [GRCh38]
Chr20:61982536 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-142dup |
duplication |
not provided [RCV000838783] |
Chr20:63351168..63351169 [GRCh38]
Chr20:61982520..61982521 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-211T>G |
single nucleotide variant |
not provided [RCV000831716] |
Chr20:63351238 [GRCh38]
Chr20:61982590 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-172_384-171insCGTGGGGCGTGGGCGTGGC |
insertion |
not provided [RCV000840031] |
Chr20:63351198..63351199 [GRCh38]
Chr20:61982550..61982551 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-153A>C |
single nucleotide variant |
not provided [RCV000843039] |
Chr20:63351180 [GRCh38]
Chr20:61982532 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.967A>G (p.Ile323Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000816770]|Inborn genetic diseases [RCV004028896] |
Chr20:63350444 [GRCh38]
Chr20:61981796 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.228+26A>G |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV001578895]|not provided [RCV000829921]|not specified [RCV004594157] |
Chr20:63359522 [GRCh38]
Chr20:61990874 [GRCh37]
Chr20:20q13.33 |
benign |
| NC_000020.10:g.(?_61977556)_(62044954_?)del |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001031874] |
Chr20:61977556..62044954 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NC_000020.10:g.(?_61977556)_(62159505_?)dup |
duplication |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001032016] |
Chr20:61977556..62159505 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1300C>T (p.Pro434Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000824284] |
Chr20:63350111 [GRCh38]
Chr20:61981463 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1283A>T (p.Gln428Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000791913] |
Chr20:63350128 [GRCh38]
Chr20:61981480 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000794716] |
Chr20:63356057 [GRCh38]
Chr20:61987409 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy 1 [RCV000785066] |
Chr20:63350915 [GRCh38]
Chr20:61982267 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.228+317C>G |
single nucleotide variant |
not provided [RCV000826866] |
Chr20:63359231 [GRCh38]
Chr20:61990583 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.383+1G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746571]|not provided [RCV000991789] |
Chr20:63355974 [GRCh38]
Chr20:61987326 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.841G>A (p.Val281Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000819415]|not provided [RCV002510988] |
Chr20:63350570 [GRCh38]
Chr20:61981922 [GRCh37]
Chr20:20q13.33 |
likely pathogenic|likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.384-135_384-134insCGTGGGCATGGGTGTGGATGTGGGCGTGGGACGTGGG |
insertion |
not provided [RCV000840032] |
Chr20:63351161..63351162 [GRCh38]
Chr20:61982513..61982514 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1758+191C>T |
single nucleotide variant |
not provided [RCV000836924] |
Chr20:63349462 [GRCh38]
Chr20:61980814 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-117A>G |
single nucleotide variant |
not provided [RCV000834071] |
Chr20:63351144 [GRCh38]
Chr20:61982496 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1758+192G>C |
single nucleotide variant |
not provided [RCV000841222] |
Chr20:63349461 [GRCh38]
Chr20:61980813 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.501C>T (p.Phe167=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001469338]|not provided [RCV000841437] |
Chr20:63350910 [GRCh38]
Chr20:61982262 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.95C>A (p.Thr32Asn) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001489590] |
Chr20:63359681 [GRCh38]
Chr20:61991033 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1759-309A>G |
single nucleotide variant |
not provided [RCV000826868] |
Chr20:63347172 [GRCh38]
Chr20:61978524 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.787C>T (p.Leu263=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001498450] |
Chr20:63350624 [GRCh38]
Chr20:61981976 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-23C>T |
single nucleotide variant |
not provided [RCV000829958] |
Chr20:63351050 [GRCh38]
Chr20:61982402 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000814276]|Inborn genetic diseases [RCV003258987] |
Chr20:63350401 [GRCh38]
Chr20:61981753 [GRCh37]
Chr20:20q13.33 |
benign|likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1663C>T (p.Pro555Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000815573]|not provided [RCV002293486] |
Chr20:63349748 [GRCh38]
Chr20:61981100 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.959C>A (p.Ser320Tyr) |
single nucleotide variant |
not provided [RCV001090873] |
Chr20:63350452 [GRCh38]
Chr20:61981804 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001869368]|not provided [RCV000991788] |
Chr20:63356032 [GRCh38]
Chr20:61987384 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NC_000020.10:g.(?_61992422)_(62038748_?)del |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001338287]|Early infantile epileptic encephalopathy with suppression bursts [RCV001032463] |
Chr20:61992422..62038748 [GRCh37]
Chr20:20q13.33 |
pathogenic|uncertain significance |
| GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3 |
copy number gain |
not provided [RCV000847979] |
Chr20:60946209..61975606 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61678415-62247462)x3 |
copy number gain |
not provided [RCV000848406] |
Chr20:61678415..62247462 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.135C>G (p.Phe45Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001230824] |
Chr20:63359641 [GRCh38]
Chr20:61990993 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NC_000020.10:g.(?_61977556)_(62129136_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031636] |
Chr20:61977556..62129136 [GRCh37]
Chr20:20q13.33 |
pathogenic |
| NM_000744.7(CHRNA4):c.940A>G (p.Met314Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001226780]|Inborn genetic diseases [RCV002375226] |
Chr20:63350471 [GRCh38]
Chr20:61981823 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.226G>A (p.Val76Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001223917]|not provided [RCV003222263] |
Chr20:63359550 [GRCh38]
Chr20:61990902 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1799G>A (p.Arg600His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001208870] |
Chr20:63346823 [GRCh38]
Chr20:61978175 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.388G>C (p.Asp130His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001237561] |
Chr20:63351023 [GRCh38]
Chr20:61982375 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1432G>T (p.Val478Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001222830]|not provided [RCV004695213] |
Chr20:63349979 [GRCh38]
Chr20:61981331 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.363G>A (p.Pro121=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001226526]|not provided [RCV001549328] |
Chr20:63355995 [GRCh38]
Chr20:61987347 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.118C>T (p.Leu40Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001230238]|not provided [RCV004774328] |
Chr20:63359658 [GRCh38]
Chr20:61991010 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1373C>A (p.Pro458Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001212373] |
Chr20:63350038 [GRCh38]
Chr20:61981390 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.748C>T (p.Leu250Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001065253] |
Chr20:63350663 [GRCh38]
Chr20:61982015 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.97C>T (p.Arg33Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001068619] |
Chr20:63359679 [GRCh38]
Chr20:61991031 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.823A>T (p.Ile275Phe) |
single nucleotide variant |
not provided [RCV001568455] |
Chr20:63350588 [GRCh38]
Chr20:61981940 [GRCh37]
Chr20:20q13.33 |
likely pathogenic |
| NM_000744.7(CHRNA4):c.77-230CA[13] |
microsatellite |
not provided [RCV001547763] |
Chr20:63359898..63359903 [GRCh38]
Chr20:61991250..61991255 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NC_000020.10:g.(?_61978090)_(62324656_?)dup |
duplication |
Dyskeratosis congenita, autosomal recessive 5 [RCV003107343] |
Chr20:61978090..62324656 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NC_000020.10:g.(?_60831241)_(62680869_?)dup |
duplication |
Developmental and epileptic encephalopathy, 33 [RCV003107566]|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564] |
Chr20:60831241..62680869 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.77-203_77-202insCACACACACACAGCGCACGCCCGG |
microsatellite |
not provided [RCV001599133] |
Chr20:63359901..63359902 [GRCh38]
Chr20:61991253..61991254 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-161_384-160insGACGT |
insertion |
not provided [RCV001725082] |
Chr20:63351187..63351188 [GRCh38]
Chr20:61982539..61982540 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.8T>G (p.Leu3Arg) |
single nucleotide variant |
not provided [RCV001560283] |
Chr20:63361158 [GRCh38]
Chr20:61992510 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.274-136C>T |
single nucleotide variant |
not provided [RCV001555024] |
Chr20:63356220 [GRCh38]
Chr20:61987572 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.77-170G>C |
single nucleotide variant |
not provided [RCV001680987] |
Chr20:63359869 [GRCh38]
Chr20:61991221 [GRCh37]
Chr20:20q13.33 |
benign |
| NC_000020.11:g.63361486A>G |
single nucleotide variant |
not provided [RCV001598797] |
Chr20:63361486 [GRCh38]
Chr20:61992838 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-172_384-171insCGTGGGGCGTGGGCGTGGCTGTGGGCGTGGGGCGTGGC |
insertion |
not provided [RCV001639004] |
Chr20:63351198..63351199 [GRCh38]
Chr20:61982550..61982551 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.77-196A>G |
single nucleotide variant |
not provided [RCV001690975] |
Chr20:63359895 [GRCh38]
Chr20:61991247 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.228+41G>A |
single nucleotide variant |
not provided [RCV001716044] |
Chr20:63359507 [GRCh38]
Chr20:61990859 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.399C>T (p.Phe133=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV002538520]|not provided [RCV001640944] |
Chr20:63351012 [GRCh38]
Chr20:61982364 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.274-75A>C |
single nucleotide variant |
not provided [RCV001612824] |
Chr20:63356159 [GRCh38]
Chr20:61987511 [GRCh37]
Chr20:20q13.33 |
benign |
| NC_000020.11:g.63361453T>A |
single nucleotide variant |
not provided [RCV001718041] |
Chr20:63361453 [GRCh38]
Chr20:61992805 [GRCh37]
Chr20:20q13.33 |
benign |
| NM_000744.7(CHRNA4):c.384-122_384-105del |
microsatellite |
not provided [RCV001594244] |
Chr20:63351132..63351149 [GRCh38]
Chr20:61982484..61982501 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1758+238G>A |
single nucleotide variant |
not provided [RCV001557735] |
Chr20:63349415 [GRCh38]
Chr20:61980767 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-231C>T |
single nucleotide variant |
not provided [RCV001558428] |
Chr20:63351258 [GRCh38]
Chr20:61982610 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-226del |
deletion |
not provided [RCV001587633] |
Chr20:63351253 [GRCh38]
Chr20:61982605 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.384-255C>T |
single nucleotide variant |
not provided [RCV001558669] |
Chr20:63351282 [GRCh38]
Chr20:61982634 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1194C>T (p.Thr398=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001458744] |
Chr20:63350217 [GRCh38]
Chr20:61981569 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.147C>T (p.Asn49=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000871890] |
Chr20:63359629 [GRCh38]
Chr20:61990981 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.711C>T (p.Phe237=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001513463]|Inborn genetic diseases [RCV002372456] |
Chr20:63350700 [GRCh38]
Chr20:61982052 [GRCh37]
Chr20:20q13.33 |
benign|likely benign |
| NM_000744.7(CHRNA4):c.957G>A (p.Leu319=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001494871] |
Chr20:63350454 [GRCh38]
Chr20:61981806 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1395C>T (p.Ser465=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001423376] |
Chr20:63350016 [GRCh38]
Chr20:61981368 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1278C>T (p.Ser426=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000863173] |
Chr20:63350133 [GRCh38]
Chr20:61981485 [GRCh37]
Chr20:20q13.33 |
likely benign |
| NM_000744.7(CHRNA4):c.1136_1158del (p.Ala379fs) |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001210496] |
Chr20:63350253..63350275 [GRCh38]
Chr20:61981605..61981627 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.988G>A (p.Val330Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001228201] |
Chr20:63350423 [GRCh38]
Chr20:61981775 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.597C>A (p.Asp199Glu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001222482] |
Chr20:63350814 [GRCh38]
Chr20:61982166 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1815G>A (p.Met605Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001222802]|not provided [RCV001531357] |
Chr20:63346807 [GRCh38]
Chr20:61978159 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_000744.7(CHRNA4):c.1208_1209delinsT (p.Pro403fs) |
indel |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001244881]|not provided [RCV002290659] |
Chr20:63350202..63350203 [GRCh38]
Chr20:61981554..61981555 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.851C>G (p.Ser284Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001245132] |
Chr20:63350560 [GRCh38]
Chr20:61981912 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.1388C>G (p.Ala463Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001216623] |
Chr20:63350023 [GRCh38]
Chr20:61981375 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.606C>G (p.Asp202Glu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001227894] |
Chr20:63350805 [GRCh38]
Chr20:61982157 [GRCh37]
Chr20:20q13.33 |
likely benign|uncertain significance |
| NC_000020.10:g.(?_61977556)_(62562941_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031161] |
Chr20:61977556..62562941 [GRCh37]
Chr20:20q13.33 |
pathogenic|uncertain significance |
| NM_000744.7(CHRNA4):c.950T>A (p.Val317Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001243963] |
Chr20:63350461 [GRCh38]
Chr20:61981813 [GRCh37]
Chr20:20q13.33 |
uncertain significance |
| NM_000744.7(CHRNA4):c.830T>C (p.Leu277Pro) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lo |
