NM_000748.3(CHRNB2):c.201C>T (p.Leu67=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000554685]|Seizures [RCV000717575] |
Chr1:154569598 [GRCh38] Chr1:154542074 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1010T>G (p.Val337Gly) |
single nucleotide variant |
Epilepsy, nocturnal frontal lobe, type 3 [RCV000033929] |
Chr1:154571833 [GRCh38] Chr1:154544309 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu) |
single nucleotide variant |
Epilepsy, nocturnal frontal lobe, type 3 [RCV000033930] |
Chr1:154571682 [GRCh38] Chr1:154544158 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_000748.3(CHRNB2):c.901C>G (p.Leu301Val) |
single nucleotide variant |
Epilepsy, nocturnal frontal lobe, type 3 [RCV000033931] |
Chr1:154571724 [GRCh38] Chr1:154544200 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) |
single nucleotide variant |
Epilepsy, nocturnal frontal lobe, type 3 [RCV000033932]|not provided [RCV000430538] |
Chr1:154571746 [GRCh38] Chr1:154544222 [GRCh37] Chr1:1q21.3 |
pathogenic|likely pathogenic |
NM_000748.3(CHRNB2):c.936C>G (p.Ile312Met) |
single nucleotide variant |
Epilepsy, nocturnal frontal lobe, type 3 [RCV000033933] |
Chr1:154571759 [GRCh38] Chr1:154544235 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) |
single nucleotide variant |
Epilepsy, nocturnal frontal lobe, type 3 [RCV000019047] |
Chr1:154571682 [GRCh38] Chr1:154544158 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001216785]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000019048]|not provided [RCV001091721] |
Chr1:154571682 [GRCh38] Chr1:154544158 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_000748.3(CHRNB2):c.441G>A (p.Pro147=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000542836] |
Chr1:154571264 [GRCh38] Chr1:154543740 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.780C>T (p.Ser260=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000543642]|Seizures [RCV000720313] |
Chr1:154571603 [GRCh38] Chr1:154544079 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1336A>G (p.Ser446Gly) |
single nucleotide variant |
not specified [RCV000517124] |
Chr1:154572159 [GRCh38] Chr1:154544635 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1375G>T (p.Asp459Tyr) |
single nucleotide variant |
not provided [RCV000520324] |
Chr1:154575798 [GRCh38] Chr1:154548274 [GRCh37] Chr1:1q21.3 |
uncertain significance |
GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1 |
copy number loss |
See cases [RCV000053912] |
Chr1:154575689..155292901 [GRCh38] Chr1:154548165..155262692 [GRCh37] Chr1:152814789..153529316 [NCBI36] Chr1:1q21.3-22 |
pathogenic |
NM_000748.3(CHRNB2):c.255+7G>C |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000470898]|not specified [RCV000124302] |
Chr1:154569843 [GRCh38] Chr1:154542319 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001084911]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000600905]|Seizures [RCV000715689]|not provided [RCV000711175]|not specified [RCV000186615] |
Chr1:154572056 [GRCh38] Chr1:154544532 [GRCh37] Chr1:1q21.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000748.3(CHRNB2):c.-49G>C |
single nucleotide variant |
not specified [RCV000124304] |
Chr1:154567996 [GRCh38] Chr1:154540472 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000226117]|not specified [RCV000124305] |
Chr1:154575830 [GRCh38] Chr1:154548306 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000469276]|Seizures [RCV000717894]|not specified [RCV000124306] |
Chr1:154575905 [GRCh38] Chr1:154548381 [GRCh37] Chr1:1q21.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001086308]|Seizures [RCV000720512]|not provided [RCV000723776]|not specified [RCV000186616] |
Chr1:154575908 [GRCh38] Chr1:154548384 [GRCh37] Chr1:1q21.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001082319]|Generalized seizures [RCV000171544]|not provided [RCV000186996] |
Chr1:154575801 [GRCh38] Chr1:154548277 [GRCh37] Chr1:1q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001084624]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000145707]|Seizures [RCV000715679]|not provided [RCV000440291]|not specified [RCV000178805] |
Chr1:154572014 [GRCh38] Chr1:154544490 [GRCh37] Chr1:1q21.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000748.3(CHRNB2):c.1338+14G>T |
single nucleotide variant |
not specified [RCV000145708] |
Chr1:154572175 [GRCh38] Chr1:154544651 [GRCh37] Chr1:1q21.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001084374]|Epilepsy, nocturnal frontal lobe, type 3 [RCV001258263]|Seizures [RCV000716091]|not provided [RCV000513684]|not specified [RCV000179341] |
Chr1:154575855 [GRCh38] Chr1:154548331 [GRCh37] Chr1:1q21.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000748.3(CHRNB2):c.210+9A>G |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000464092]|not specified [RCV000145710] |
Chr1:154569616 [GRCh38] Chr1:154542092 [GRCh37] Chr1:1q21.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 |
copy number gain |
See cases [RCV000139902] |
Chr1:154566501..157624084 [GRCh38] Chr1:154538977..157593874 [GRCh37] Chr1:152805601..155860498 [NCBI36] Chr1:1q21.3-23.1 |
pathogenic |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
NM_000748.3(CHRNB2):c.547A>T (p.Ile183Phe) |
single nucleotide variant |
not provided [RCV000178804] |
Chr1:154571370 [GRCh38] Chr1:154543846 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001039180]|Intellectual disability [RCV001251720]|not provided [RCV000723869] |
Chr1:154571869 [GRCh38] Chr1:154544345 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_000748.3(CHRNB2):c.212A>G (p.His71Arg) |
single nucleotide variant |
not provided [RCV000186983] |
Chr1:154569793 [GRCh38] Chr1:154542269 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met) |
single nucleotide variant |
not provided [RCV000186990] |
Chr1:154571482 [GRCh38] Chr1:154543958 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.848T>C (p.Ile283Thr) |
single nucleotide variant |
not provided [RCV000186992] |
Chr1:154571671 [GRCh38] Chr1:154544147 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1463C>T (p.Thr488Ile) |
single nucleotide variant |
not provided [RCV000186997] |
Chr1:154575886 [GRCh38] Chr1:154548362 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del) |
microsatellite |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001081528]|Seizures [RCV000717812]|not provided [RCV000711176] |
Chr1:154570361..154570363 [GRCh38] Chr1:154542837..154542839 [GRCh37] Chr1:1q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000748.3(CHRNB2):c.1129_1131TTC[1] (p.Phe378del) |
microsatellite |
not specified [RCV000186999] |
Chr1:154571950..154571952 [GRCh38] Chr1:154544426..154544428 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1171_1180delinsCTGACCGACTCCTGCA (p.Val391_Ala394delinsLeuThrAspSerCysThr) |
indel |
not specified [RCV000187000] |
Chr1:154571994..154572003 [GRCh38] Chr1:154544470..154544479 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1407_1410del (p.Cys470fs) |
deletion |
not specified [RCV000187001] |
Chr1:154575827..154575830 [GRCh38] Chr1:154548303..154548306 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.297T>C (p.Phe99=) |
single nucleotide variant |
not provided [RCV000994108]|not specified [RCV000186976] |
Chr1:154570299 [GRCh38] Chr1:154542775 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001058810]|not specified [RCV000186977] |
Chr1:154571937 [GRCh38] Chr1:154544413 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu) |
single nucleotide variant |
not specified [RCV000186978] |
Chr1:154571994 [GRCh38] Chr1:154544470 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000456836]|not specified [RCV000186979] |
Chr1:154572057 [GRCh38] Chr1:154544533 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001085886]|not provided [RCV000232314]|not specified [RCV000186980] |
Chr1:154572058 [GRCh38] Chr1:154544534 [GRCh37] Chr1:1q21.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000531578]|Seizures [RCV000717241]|not specified [RCV000186981] |
Chr1:154569474 [GRCh38] Chr1:154541950 [GRCh37] Chr1:1q21.3 |
benign|likely benign|uncertain significance |
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His) |
single nucleotide variant |
not provided [RCV000186982] |
Chr1:154569537 [GRCh38] Chr1:154542013 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000532516] |
Chr1:154570274 [GRCh38] Chr1:154542750 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001223159]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000714603] |
Chr1:154570319 [GRCh38] Chr1:154542795 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001213692]|Epilepsy, nocturnal frontal lobe, type 3 [RCV001262983]|Seizures [RCV000416529]|not provided [RCV000186986] |
Chr1:154570331 [GRCh38] Chr1:154542807 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.549C>G (p.Ile183Met) |
single nucleotide variant |
not provided [RCV000186987] |
Chr1:154571372 [GRCh38] Chr1:154543848 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699747]|not provided [RCV000186988] |
Chr1:154571443 [GRCh38] Chr1:154543919 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) |
single nucleotide variant |
Epilepsy, nocturnal frontal lobe, type 3 [RCV000764978]|not provided [RCV000186989] |
Chr1:154571463 [GRCh38] Chr1:154543939 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.695G>A (p.Arg232His) |
single nucleotide variant |
not provided [RCV000186991] |
Chr1:154571518 [GRCh38] Chr1:154543994 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala) |
single nucleotide variant |
not provided [RCV000186993] |
Chr1:154571733 [GRCh38] Chr1:154544209 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1314G>A (p.Met438Ile) |
single nucleotide variant |
not provided [RCV000186994] |
Chr1:154572137 [GRCh38] Chr1:154544613 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.7C>T (p.Arg3Trp) |
single nucleotide variant |
not provided [RCV000186995] |
Chr1:154568051 [GRCh38] Chr1:154540527 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000539803]|Seizures [RCV000718668]|not specified [RCV000248984] |
Chr1:154569547 [GRCh38] Chr1:154542023 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_000748.3(CHRNB2):c.255+7G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001086270]|not provided [RCV000397177] |
Chr1:154569843 [GRCh38] Chr1:154542319 [GRCh37] Chr1:1q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001111.5(ADAR):c.*1712C>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000265850] |
Chr1:154583094 [GRCh38] Chr1:154555570 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*368G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000290493] |
Chr1:154584438 [GRCh38] Chr1:154556914 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_001111.5(ADAR):c.*1799_*1800del |
deletion |
Symmetrical dyschromatosis of extremities [RCV000398155] |
Chr1:154583006..154583007 [GRCh38] Chr1:154555482..154555483 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*812C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000306216] |
Chr1:154583994 [GRCh38] Chr1:154556470 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1036C>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000295400] |
Chr1:154583770 [GRCh38] Chr1:154556246 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1790A>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000308949] |
Chr1:154583016 [GRCh38] Chr1:154555492 [GRCh37] Chr1:1q21.3 |
benign |
NM_001111.5(ADAR):c.*2316G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000314968] |
Chr1:154582490 [GRCh38] Chr1:154554966 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*619C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000318816] |
Chr1:154584187 [GRCh38] Chr1:154556663 [GRCh37] Chr1:1q21.3 |
benign |
NM_001111.5(ADAR):c.*825G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000395609] |
Chr1:154583981 [GRCh38] Chr1:154556457 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_001111.5(ADAR):c.*857C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000301586] |
Chr1:154583949 [GRCh38] Chr1:154556425 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile) |
single nucleotide variant |
not specified [RCV000517715] |
Chr1:154569567 [GRCh38] Chr1:154542043 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.613A>G (p.Ile205Val) |
single nucleotide variant |
not specified [RCV000604993] |
Chr1:154571436 [GRCh38] Chr1:154543912 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_001111.5(ADAR):c.*2199C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000362460] |
Chr1:154582607 [GRCh38] Chr1:154555083 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_000748.3(CHRNB2):c.1312A>G (p.Met438Val) |
single nucleotide variant |
not specified [RCV000518581] |
Chr1:154572135 [GRCh38] Chr1:154544611 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*2586C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000349948] |
Chr1:154582220 [GRCh38] Chr1:154554696 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1016C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000352647] |
Chr1:154583790 [GRCh38] Chr1:154556266 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000623783] |
Chr1:154569536 [GRCh38] Chr1:154542012 [GRCh37] Chr1:1q21.3 |
likely pathogenic |
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 |
copy number gain |
not provided [RCV000585385] |
Chr1:153751465..156660462 [GRCh37] Chr1:1q21.3-23.1 |
likely pathogenic |
NM_001111.5(ADAR):c.*468G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000325530] |
Chr1:154584338 [GRCh38] Chr1:154556814 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe) |
single nucleotide variant |
not provided [RCV000735044] |
Chr1:154571667 [GRCh38] Chr1:154544143 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1566T>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000323218] |
Chr1:154583240 [GRCh38] Chr1:154555716 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*517_*518AG[1] |
microsatellite |
Symmetrical dyschromatosis of extremities [RCV000274387] |
Chr1:154584286..154584287 [GRCh38] Chr1:154556762..154556763 [GRCh37] Chr1:1q21.3 |
benign |
NM_001111.5(ADAR):c.*519del |
deletion |
Symmetrical dyschromatosis of extremities [RCV000331469] |
Chr1:154584287 [GRCh38] Chr1:154556763 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000553176]|Seizures [RCV000717456]|not specified [RCV000602088] |
Chr1:154571595 [GRCh38] Chr1:154544071 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_001111.5(ADAR):c.*1344G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000282425] |
Chr1:154583462 [GRCh38] Chr1:154555938 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*413A>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000382647] |
Chr1:154584393 [GRCh38] Chr1:154556869 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_001111.5(ADAR):c.*1104T>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000387349] |
Chr1:154583702 [GRCh38] Chr1:154556178 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*479T>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000296268] |
Chr1:154584327 [GRCh38] Chr1:154556803 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_001111.5(ADAR):c.*245T>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000402527] |
Chr1:154584561 [GRCh38] Chr1:154557037 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_001111.5(ADAR):c.*884C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000403714] |
Chr1:154583922 [GRCh38] Chr1:154556398 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001220609]|not specified [RCV000413172] |
Chr1:154571196 [GRCh38] Chr1:154543672 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*2727dup |
duplication |
Symmetrical dyschromatosis of extremities [RCV000405271] |
Chr1:154582078..154582079 [GRCh38] Chr1:154554554..154554555 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.255+15T>G |
single nucleotide variant |
not specified [RCV000434283] |
Chr1:154569851 [GRCh38] Chr1:154542327 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1257G>A (p.Pro419=) |
single nucleotide variant |
not specified [RCV000423958] |
Chr1:154572080 [GRCh38] Chr1:154544556 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.453C>T (p.Tyr151=) |
single nucleotide variant |
not specified [RCV000427713] |
Chr1:154571276 [GRCh38] Chr1:154543752 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1425C>T (p.Ile475=) |
single nucleotide variant |
Seizures [RCV000720485]|not provided [RCV000931528]|not specified [RCV000418189] |
Chr1:154575848 [GRCh38] Chr1:154548324 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1308C>T (p.Asp436=) |
single nucleotide variant |
not specified [RCV000431740] |
Chr1:154572131 [GRCh38] Chr1:154544607 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.-37A>C |
single nucleotide variant |
not specified [RCV000439025] |
Chr1:154568008 [GRCh38] Chr1:154540484 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.294G>A (p.Glu98=) |
single nucleotide variant |
not specified [RCV000439084] |
Chr1:154570296 [GRCh38] Chr1:154542772 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.777A>T (p.Pro259=) |
single nucleotide variant |
not provided [RCV000991791]|not specified [RCV000442830] |
Chr1:154571600 [GRCh38] Chr1:154544076 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654356]|not specified [RCV000439302] |
Chr1:154571951 [GRCh38] Chr1:154544427 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001088119]|not provided [RCV000711174]|not specified [RCV000422281] |
Chr1:154569506 [GRCh38] Chr1:154541982 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg) |
single nucleotide variant |
not provided [RCV000432638] |
Chr1:154572143 [GRCh38] Chr1:154544619 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1249G>A (p.Gly417Arg) |
single nucleotide variant |
not specified [RCV000422501] |
Chr1:154572072 [GRCh38] Chr1:154544548 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.348T>C (p.Asp116=) |
single nucleotide variant |
not specified [RCV000426104] |
Chr1:154570350 [GRCh38] Chr1:154542826 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.702G>A (p.Pro234=) |
single nucleotide variant |
not provided [RCV000919422]|not specified [RCV000422778] |
Chr1:154571525 [GRCh38] Chr1:154544001 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.*13T>C |
single nucleotide variant |
not specified [RCV000444302] |
Chr1:154575945 [GRCh38] Chr1:154548421 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000865950]|not specified [RCV000426734] |
Chr1:154571648 [GRCh38] Chr1:154544124 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.372C>T (p.Asp124=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000863289]|not specified [RCV000440825] |
Chr1:154571195 [GRCh38] Chr1:154543671 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_000748.3(CHRNB2):c.1380C>T (p.Arg460=) |
single nucleotide variant |
not specified [RCV000444568] |
Chr1:154575803 [GRCh38] Chr1:154548279 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1339-16C>T |
single nucleotide variant |
not specified [RCV000423392] |
Chr1:154575746 [GRCh38] Chr1:154548222 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.1287C>T (p.Asp429=) |
single nucleotide variant |
not specified [RCV000437444] |
Chr1:154572110 [GRCh38] Chr1:154544586 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1087C>T (p.Leu363=) |
single nucleotide variant |
not specified [RCV000441236] |
Chr1:154571910 [GRCh38] Chr1:154544386 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.*472G>A |
single nucleotide variant |
nicotine response - Efficacy, Toxicity/ADR [RCV000417150] |
Chr1:154576404 [GRCh38] Chr1:154548880 [GRCh37] Chr1:1q21.3 |
drug response |
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000466506]|not provided [RCV000991792] |
Chr1:154569475 [GRCh38] Chr1:154541951 [GRCh37] Chr1:1q21.3 |
benign|uncertain significance |
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001083355]|not provided [RCV000732586]|not specified [RCV000599978] |
Chr1:154572059 [GRCh38] Chr1:154544535 [GRCh37] Chr1:1q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000748.3(CHRNB2):c.1232C>A (p.Ala411Glu) |
single nucleotide variant |
not provided [RCV000479753] |
Chr1:154572055 [GRCh38] Chr1:154544531 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001059051]|not provided [RCV000480382] |
Chr1:154572096 [GRCh38] Chr1:154544572 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.938T>C (p.Val313Ala) |
single nucleotide variant |
not provided [RCV000484907] |
Chr1:154571761 [GRCh38] Chr1:154544237 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr) |
single nucleotide variant |
not provided [RCV000484975] |
Chr1:154572027 [GRCh38] Chr1:154544503 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) |
single nucleotide variant |
Epilepsy, nocturnal frontal lobe, type 3 [RCV000626232]|not provided [RCV000485682] |
Chr1:154572114 [GRCh38] Chr1:154544590 [GRCh37] Chr1:1q21.3 |
likely pathogenic|uncertain significance |
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001227485]|not provided [RCV000486268] |
Chr1:154571940 [GRCh38] Chr1:154544416 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001244619]|not provided [RCV000482418] |
Chr1:154570279 [GRCh38] Chr1:154542755 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000465543] |
Chr1:154571227 [GRCh38] Chr1:154543703 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1295G>T (p.Arg432Leu) |
single nucleotide variant |
not provided [RCV000478029] |
Chr1:154572118 [GRCh38] Chr1:154544594 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034226]|not provided [RCV000486786] |
Chr1:154569519 [GRCh38] Chr1:154541995 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_000748.3(CHRNB2):c.394T>C (p.Tyr132His) |
single nucleotide variant |
not provided [RCV000486991] |
Chr1:154571217 [GRCh38] Chr1:154543693 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000473571]|not provided [RCV000991790] |
Chr1:154571514 [GRCh38] Chr1:154543990 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.97G>A (p.Val33Met) |
single nucleotide variant |
not provided [RCV000483058] |
Chr1:154569494 [GRCh38] Chr1:154541970 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1339-6A>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000462498] |
Chr1:154575756 [GRCh38] Chr1:154548232 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp) |
single nucleotide variant |
not provided [RCV000479001] |
Chr1:154572022 [GRCh38] Chr1:154544498 [GRCh37] Chr1:1q21.3 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_000748.3(CHRNB2):c.632G>A (p.Arg211Gln) |
single nucleotide variant |
not provided [RCV000498269] |
Chr1:154571455 [GRCh38] Chr1:154543931 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1338+3G>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000689334]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000764979]|not provided [RCV000493584] |
Chr1:154572164 [GRCh38] Chr1:154544640 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654321]|not provided [RCV000494473] |
Chr1:154569502 [GRCh38] Chr1:154541978 [GRCh37] Chr1:1q21.3 |
benign|uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_001111.5(ADAR):c.*1728C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000366017] |
Chr1:154583078 [GRCh38] Chr1:154555554 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*898G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000345964] |
Chr1:154583908 [GRCh38] Chr1:154556384 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_001111.5(ADAR):c.*527A>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000357326] |
Chr1:154584279 [GRCh38] Chr1:154556755 [GRCh37] Chr1:1q21.3 |
uncertain significance |
Single allele |
inversion |
Pediatric metastatic thyroid tumour [RCV000585807] |
Chr1:154130985..156843877 [GRCh37] Chr1:1q21.3-23.1 |
likely pathogenic |
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000558447] |
Chr1:154571613 [GRCh38] Chr1:154544089 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*714G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000261276] |
Chr1:154584092 [GRCh38] Chr1:154556568 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1242A>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000330411] |
Chr1:154583564 [GRCh38] Chr1:154556040 [GRCh37] Chr1:1q21.3 |
benign |
NM_001111.5(ADAR):c.*1397C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000374559] |
Chr1:154583409 [GRCh38] Chr1:154555885 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_001111.5(ADAR):c.*503_*505del |
deletion |
Symmetrical dyschromatosis of extremities [RCV000388271] |
Chr1:154584301..154584303 [GRCh38] Chr1:154556777..154556779 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_001111.5(ADAR):c.*206T>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000298161] |
Chr1:154584600 [GRCh38] Chr1:154557076 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*943C>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000403697] |
Chr1:154583863 [GRCh38] Chr1:154556339 [GRCh37] Chr1:1q21.3 |
benign |
NM_001111.5(ADAR):c.*2623C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000311423] |
Chr1:154582183 [GRCh38] Chr1:154554659 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_001111.5(ADAR):c.*1406A>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000317568] |
Chr1:154583400 [GRCh38] Chr1:154555876 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000555604] |
Chr1:154575802 [GRCh38] Chr1:154548278 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*749G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000354012] |
Chr1:154584057 [GRCh38] Chr1:154556533 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1549T>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000361567] |
Chr1:154583257 [GRCh38] Chr1:154555733 [GRCh37] Chr1:1q21.3 |
benign |
NM_001111.5(ADAR):c.*1436G>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000259858] |
Chr1:154583370 [GRCh38] Chr1:154555846 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000983304]|not specified [RCV000602407] |
Chr1:154572065 [GRCh38] Chr1:154544541 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.841C>T (p.Leu281=) |
single nucleotide variant |
not specified [RCV000610591] |
Chr1:154571664 [GRCh38] Chr1:154544140 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_001111.5(ADAR):c.*323G>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000392433] |
Chr1:154584483 [GRCh38] Chr1:154556959 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654296] |
Chr1:154571611 [GRCh38] Chr1:154544087 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654311] |
Chr1:154572054 [GRCh38] Chr1:154544530 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654322] |
Chr1:154569551 [GRCh38] Chr1:154542027 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654324]|Seizures [RCV000716778] |
Chr1:154571557 [GRCh38] Chr1:154544033 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.991A>G (p.Met331Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654328] |
Chr1:154571814 [GRCh38] Chr1:154544290 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.708C>T (p.Phe236=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654340] |
Chr1:154571531 [GRCh38] Chr1:154544007 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.912C>A (p.Thr304=) |
single nucleotide variant |
not specified [RCV000611022] |
Chr1:154571735 [GRCh38] Chr1:154544211 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1080C>A (p.Arg360=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654343] |
Chr1:154571903 [GRCh38] Chr1:154544379 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.483C>T (p.His161=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654348] |
Chr1:154571306 [GRCh38] Chr1:154543782 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.1253A>G (p.Glu418Gly) |
single nucleotide variant |
not specified [RCV000614072] |
Chr1:154572076 [GRCh38] Chr1:154544552 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_001111.5(ADAR):c.*317T>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000342770] |
Chr1:154584489 [GRCh38] Chr1:154556965 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*110dup |
duplication |
Symmetrical dyschromatosis of extremities [RCV000336712] |
Chr1:154584695..154584696 [GRCh38] Chr1:154557171..154557172 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*319del |
deletion |
Symmetrical dyschromatosis of extremities [RCV000285390] |
Chr1:154584487 [GRCh38] Chr1:154556963 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*361C>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000347928] |
Chr1:154584445 [GRCh38] Chr1:154556921 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*938A>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000288717] |
Chr1:154583868 [GRCh38] Chr1:154556344 [GRCh37] Chr1:1q21.3 |
benign|likely benign |
NM_001111.5(ADAR):c.*844G>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV000359744] |
Chr1:154583962 [GRCh38] Chr1:154556438 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_001111.5(ADAR):c.*2323_*2330dup |
duplication |
Symmetrical dyschromatosis of extremities [RCV000405023] |
Chr1:154582475..154582476 [GRCh38] Chr1:154554951..154554952 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.64+6G>C |
single nucleotide variant |
not provided [RCV000513543] |
Chr1:154568114 [GRCh38] Chr1:154540590 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1180G>A (p.Ala394Thr) |
single nucleotide variant |
not provided [RCV000686593] |
Chr1:154572003 [GRCh38] Chr1:154544479 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 |
copy number gain |
not provided [RCV000684655] |
Chr1:150853044..154647786 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_000748.3(CHRNB2):c.255+6C>T |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000685100] |
Chr1:154569842 [GRCh38] Chr1:154542318 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000686345] |
Chr1:154569503 [GRCh38] Chr1:154541979 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000701217] |
Chr1:154572142 [GRCh38] Chr1:154544618 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg) |
single nucleotide variant |
not provided [RCV000711177] |
Chr1:154571338 [GRCh38] Chr1:154543814 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val) |
single nucleotide variant |
not provided [RCV000705300] |
Chr1:154575795 [GRCh38] Chr1:154548271 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000705975] |
Chr1:154571857 [GRCh38] Chr1:154544333 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699957] |
Chr1:154575804 [GRCh38] Chr1:154548280 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000700177] |
Chr1:154571984 [GRCh38] Chr1:154544460 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000701596] |
Chr1:154572158 [GRCh38] Chr1:154544634 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000703921] |
Chr1:154571271 [GRCh38] Chr1:154543747 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000695307] |
Chr1:154571791 [GRCh38] Chr1:154544267 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000690456] |
Chr1:154571715 [GRCh38] Chr1:154544191 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699241] |
Chr1:154571980 [GRCh38] Chr1:154544456 [GRCh37] Chr1:1q21.3 |
likely benign|uncertain significance |
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000696556] |
Chr1:154571362 [GRCh38] Chr1:154543838 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000866947]|Seizures [RCV000720786] |
Chr1:154572080 [GRCh38] Chr1:154544556 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.222G>C (p.Glu74Asp) |
single nucleotide variant |
Seizures [RCV000720579] |
Chr1:154569803 [GRCh38] Chr1:154542279 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1068C>A (p.Cys356Ter) |
single nucleotide variant |
Seizures [RCV000720415] |
Chr1:154571891 [GRCh38] Chr1:154544367 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile) |
single nucleotide variant |
Seizures [RCV000720918] |
Chr1:154569546 [GRCh38] Chr1:154542022 [GRCh37] Chr1:1q21.3 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_000748.3(CHRNB2):c.318G>A (p.Arg106=) |
single nucleotide variant |
not provided [RCV000979792] |
Chr1:154570320 [GRCh38] Chr1:154542796 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001065354] |
Chr1:154572030 [GRCh38] Chr1:154544506 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1315C>T (p.Arg439Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001046243] |
Chr1:154572138 [GRCh38] Chr1:154544614 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1281G>A (p.Ala427=) |
single nucleotide variant |
not provided [RCV000924801] |
Chr1:154572104 [GRCh38] Chr1:154544580 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.30G>A (p.Leu10=) |
single nucleotide variant |
not provided [RCV000928591] |
Chr1:154568074 [GRCh38] Chr1:154540550 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.648C>T (p.Pro216=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000869494] |
Chr1:154571471 [GRCh38] Chr1:154543947 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000936727] |
Chr1:154571492 [GRCh38] Chr1:154543968 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1176C>T (p.Asn392=) |
single nucleotide variant |
not provided [RCV000866859] |
Chr1:154571999 [GRCh38] Chr1:154544475 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1182G>C (p.Ala394=) |
single nucleotide variant |
not provided [RCV000982615] |
Chr1:154572005 [GRCh38] Chr1:154544481 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.210+10G>A |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000868767] |
Chr1:154569617 [GRCh38] Chr1:154542093 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1091G>A (p.Arg364Gln) |
single nucleotide variant |
not provided [RCV000870911] |
Chr1:154571914 [GRCh38] Chr1:154544390 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.18C>G (p.Gly6=) |
single nucleotide variant |
not provided [RCV000920871] |
Chr1:154568062 [GRCh38] Chr1:154540538 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000868043] |
Chr1:154571462 [GRCh38] Chr1:154543938 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.315T>C (p.Val105=) |
single nucleotide variant |
not provided [RCV000929078] |
Chr1:154570317 [GRCh38] Chr1:154542793 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001058081] |
Chr1:154571308 [GRCh38] Chr1:154543784 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001043096] |
Chr1:154571742 [GRCh38] Chr1:154544218 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001039894] |
Chr1:154572049 [GRCh38] Chr1:154544525 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=) |
indel |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000940159] |
Chr1:154571858..154571859 [GRCh38] Chr1:154544334..154544335 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.210+3G>A |
single nucleotide variant |
not provided [RCV000940313] |
Chr1:154569610 [GRCh38] Chr1:154542086 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.240T>C (p.Asn80=) |
single nucleotide variant |
not provided [RCV000941257] |
Chr1:154569821 [GRCh38] Chr1:154542297 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1200C>G (p.Ala400=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000980256] |
Chr1:154572023 [GRCh38] Chr1:154544499 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.615C>T (p.Ile205=) |
single nucleotide variant |
not provided [RCV000841757] |
Chr1:154571438 [GRCh38] Chr1:154543914 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000797133] |
Chr1:154575782 [GRCh38] Chr1:154548258 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1035G>T (p.Ala345=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001088551]|not provided [RCV000840126] |
Chr1:154571858 [GRCh38] Chr1:154544334 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.123C>T (p.Arg41=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000937982] |
Chr1:154569520 [GRCh38] Chr1:154541996 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1338+245A>G |
single nucleotide variant |
not provided [RCV000836887] |
Chr1:154572406 [GRCh38] Chr1:154544882 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.1221T>G (p.Pro407=) |
single nucleotide variant |
not provided [RCV000994109] |
Chr1:154572044 [GRCh38] Chr1:154544520 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.-55C>T |
single nucleotide variant |
not provided [RCV000830018] |
Chr1:154567990 [GRCh38] Chr1:154540466 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.1338+25G>A |
single nucleotide variant |
not provided [RCV000830053] |
Chr1:154572186 [GRCh38] Chr1:154544662 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000805732] |
Chr1:154570318 [GRCh38] Chr1:154542794 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000792379] |
Chr1:154571856 [GRCh38] Chr1:154544332 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000792673] |
Chr1:154571361 [GRCh38] Chr1:154543837 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.64+185G>A |
single nucleotide variant |
not provided [RCV000837236] |
Chr1:154568293 [GRCh38] Chr1:154540769 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.-214A>G |
single nucleotide variant |
not provided [RCV000829922] |
Chr1:154567831 [GRCh38] Chr1:154540307 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.75T>C (p.Gly25=) |
single nucleotide variant |
not provided [RCV000828038] |
Chr1:154569472 [GRCh38] Chr1:154541948 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.64+133A>G |
single nucleotide variant |
not provided [RCV000838788] |
Chr1:154568241 [GRCh38] Chr1:154540717 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.366-159A>G |
single nucleotide variant |
not provided [RCV000838789] |
Chr1:154571030 [GRCh38] Chr1:154543506 [GRCh37] Chr1:1q21.3 |
benign |
NC_000001.11:g.154567749G>A |
single nucleotide variant |
not provided [RCV000832510] |
Chr1:154567749 [GRCh38] Chr1:154540225 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn) |
single nucleotide variant |
not provided [RCV000827115] |
Chr1:154571976 [GRCh38] Chr1:154544452 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000795141] |
Chr1:154571926 [GRCh38] Chr1:154544402 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000793568] |
Chr1:154568061 [GRCh38] Chr1:154540537 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*885G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001098993] |
Chr1:154583921 [GRCh38] Chr1:154556397 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.416A>C (p.Tyr139Ser) |
single nucleotide variant |
Focal clonic seizures [RCV001090182] |
Chr1:154571239 [GRCh38] Chr1:154543715 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001065083] |
Chr1:154571806 [GRCh38] Chr1:154544282 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.990C>T (p.Thr330=) |
single nucleotide variant |
not provided [RCV000860903] |
Chr1:154571813 [GRCh38] Chr1:154544289 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.42C>T (p.Phe14=) |
single nucleotide variant |
not provided [RCV000917704] |
Chr1:154568086 [GRCh38] Chr1:154540562 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV000797119] |
Chr1:154571457 [GRCh38] Chr1:154543933 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.33C>G (p.Leu11=) |
single nucleotide variant |
not provided [RCV000937892] |
Chr1:154568077 [GRCh38] Chr1:154540553 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.256-41C>T |
single nucleotide variant |
not provided [RCV000830019] |
Chr1:154570217 [GRCh38] Chr1:154542693 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.-51C>A |
single nucleotide variant |
not provided [RCV000832504] |
Chr1:154567994 [GRCh38] Chr1:154540470 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1116C>T (p.Gly372=) |
single nucleotide variant |
not provided [RCV000937191] |
Chr1:154571939 [GRCh38] Chr1:154544415 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu) |
single nucleotide variant |
not provided [RCV000994110] |
Chr1:154575846 [GRCh38] Chr1:154548322 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001226794] |
Chr1:154571760 [GRCh38] Chr1:154544236 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001227324] |
Chr1:154571283 [GRCh38] Chr1:154543759 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs) |
microsatellite |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001220711] |
Chr1:154575762..154575765 [GRCh38] Chr1:154548238..154548241 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001209280] |
Chr1:154570308 [GRCh38] Chr1:154542784 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3]) |
microsatellite |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001221236] |
Chr1:154571899..154571900 [GRCh38] Chr1:154544375..154544376 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001240034] |
Chr1:154572067 [GRCh38] Chr1:154544543 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001223721] |
Chr1:154575882 [GRCh38] Chr1:154548358 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001221512] |
Chr1:154569798 [GRCh38] Chr1:154542274 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.930del (p.Ser311fs) |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001238501] |
Chr1:154571753 [GRCh38] Chr1:154544229 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001211364] |
Chr1:154570303 [GRCh38] Chr1:154542779 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001212259] |
Chr1:154572024 [GRCh38] Chr1:154544500 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.945C>T (p.Ser315=) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001232809] |
Chr1:154571768 [GRCh38] Chr1:154544244 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.96G>A (p.Leu32=) |
single nucleotide variant |
not provided [RCV000994107] |
Chr1:154569493 [GRCh38] Chr1:154541969 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1919T>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100709] |
Chr1:154582887 [GRCh38] Chr1:154555363 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1751T>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100711] |
Chr1:154583055 [GRCh38] Chr1:154555531 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.405C>G (p.Ala135=) |
single nucleotide variant |
not provided [RCV000940309] |
Chr1:154571228 [GRCh38] Chr1:154543704 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_001111.5(ADAR):c.*1871A>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100710] |
Chr1:154582935 [GRCh38] Chr1:154555411 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*590G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100807] |
Chr1:154584216 [GRCh38] Chr1:154556692 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1614T>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100973] |
Chr1:154583192 [GRCh38] Chr1:154555668 [GRCh37] Chr1:1q21.3 |
benign |
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001237250] |
Chr1:154571934 [GRCh38] Chr1:154544410 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001217378] |
Chr1:154571797 [GRCh38] Chr1:154544273 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1126C>T (p.Leu376Phe) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001244275] |
Chr1:154571949 [GRCh38] Chr1:154544425 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.138C>T (p.Ile46=) |
single nucleotide variant |
not provided [RCV000934144] |
Chr1:154569535 [GRCh38] Chr1:154542011 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_001111.5(ADAR):c.*1336A>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001097235] |
Chr1:154583470 [GRCh38] Chr1:154555946 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1221C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001097237] |
Chr1:154583585 [GRCh38] Chr1:154556061 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*2033G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100708] |
Chr1:154582773 [GRCh38] Chr1:154555249 [GRCh37] Chr1:1q21.3 |
benign |
NM_001111.5(ADAR):c.*2643G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001098885] |
Chr1:154582163 [GRCh38] Chr1:154554639 [GRCh37] Chr1:1q21.3 |
benign |
NM_001111.5(ADAR):c.*2636G>A |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001098886] |
Chr1:154582170 [GRCh38] Chr1:154554646 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*989C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001098992] |
Chr1:154583817 [GRCh38] Chr1:154556293 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*2134T>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100707] |
Chr1:154582672 [GRCh38] Chr1:154555148 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1454C>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100974] |
Chr1:154583352 [GRCh38] Chr1:154555828 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.213T>G (p.His71Gln) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034015] |
Chr1:154569794 [GRCh38] Chr1:154542270 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_000748.3(CHRNB2):c.65-2del |
deletion |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001211887] |
Chr1:154569460 [GRCh38] Chr1:154541936 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001219785] |
Chr1:154571999 [GRCh38] Chr1:154544475 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001218832] |
Chr1:154569572 [GRCh38] Chr1:154542048 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001208782] |
Chr1:154575865 [GRCh38] Chr1:154548341 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001247162] |
Chr1:154569485 [GRCh38] Chr1:154541961 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*301C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001097330] |
Chr1:154584505 [GRCh38] Chr1:154556981 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1322A>G |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001097236] |
Chr1:154583484 [GRCh38] Chr1:154555960 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*1192C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001097238] |
Chr1:154583614 [GRCh38] Chr1:154556090 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1115G>A (p.Gly372Asp) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001230959] |
Chr1:154571938 [GRCh38] Chr1:154544414 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001213060] |
Chr1:154569546 [GRCh38] Chr1:154542022 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001234168] |
Chr1:154571443 [GRCh38] Chr1:154543919 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001205370] |
Chr1:154575838 [GRCh38] Chr1:154548314 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001218208] |
Chr1:154571427 [GRCh38] Chr1:154543903 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*612A>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001100806] |
Chr1:154584194 [GRCh38] Chr1:154556670 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001230005] |
Chr1:154575798 [GRCh38] Chr1:154548274 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*2317C>T |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001098887] |
Chr1:154582489 [GRCh38] Chr1:154554965 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_001111.5(ADAR):c.*2153T>C |
single nucleotide variant |
Symmetrical dyschromatosis of extremities [RCV001098888] |
Chr1:154582653 [GRCh38] Chr1:154555129 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.687C>G (p.Ile229Met) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001231660] |
Chr1:154571510 [GRCh38] Chr1:154543986 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1058G>A (p.Arg353His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001204255] |
Chr1:154571881 [GRCh38] Chr1:154544357 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001038842] |
Chr1:154575846 [GRCh38] Chr1:154548322 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His) |
single nucleotide variant |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001215932] |
Chr1:154571863 [GRCh38] Chr1:154544339 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_000748.3(CHRNB2):c.378G>A (p.Met126Ile) |
single nucleotide variant |
Seizures [RCV001256058] |
Chr1:154571201 [GRCh38] Chr1:154543677 [GRCh37] Chr1:1q21.3 |
uncertain significance |