NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000549569] |
Chr19:2434087 [GRCh38] Chr19:2434085 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.55G>A (p.Ala19Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001516219]|not specified [RCV000517721] |
Chr19:2456879 [GRCh38] Chr19:2456877 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000544288] |
Chr19:2444458 [GRCh38] Chr19:2444456 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1554G>C (p.Thr518=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001079747]|not provided [RCV000712222] |
Chr19:2432452 [GRCh38] Chr19:2432450 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.160A>C (p.Asn54His) |
single nucleotide variant |
Microcephaly 27, primary, autosomal dominant [RCV001292583] |
Chr19:2456774 [GRCh38] Chr19:2456772 [GRCh37] Chr19:19p13.3 |
pathogenic |
NM_032737.4(LMNB2):c.684+1G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001367560] |
Chr19:2438162 [GRCh38] Chr19:2438160 [GRCh37] Chr19:19p13.3 |
uncertain significance |
LMNB2, IVS1AS, C-T, -6 |
single nucleotide variant |
Acquired partial lipodystrophy [RCV000015560] |
Chr19:19p13.3 |
risk factor |
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) |
single nucleotide variant |
Acquired partial lipodystrophy [RCV000015561]|Progressive myoclonic epilepsy type 9 [RCV000551638]|Progressive myoclonic epilepsy type 9 [RCV000990135]|Progressive myoclonic epilepsy type 9 [RCV003224099]|not provided [RCV000057200]|not specified [RCV000117496] |
Chr19:2435152 [GRCh38] Chr19:2435150 [GRCh37] Chr19:19p13.3 |
risk factor|benign|likely benign|not provided |
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr) |
single nucleotide variant |
Acquired partial lipodystrophy [RCV000015562]|Progressive myoclonic epilepsy type 9 [RCV001851877]|not provided [RCV000057198] |
Chr19:2434029 [GRCh38] Chr19:2434027 [GRCh37] Chr19:19p13.3 |
risk factor|benign|uncertain significance|not provided |
NM_032737.4(LMNB2):c.26G>A (p.Arg9His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002001461] |
Chr19:2456908 [GRCh38] Chr19:2456906 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.440G>A (p.Gly147Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000543349] |
Chr19:2438493 [GRCh38] Chr19:2438491 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.443G>A (p.Arg148His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000558159] |
Chr19:2438490 [GRCh38] Chr19:2438488 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1403C>G (p.Ala468Gly) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000541840] |
Chr19:2433905 [GRCh38] Chr19:2433903 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 |
copy number gain |
See cases [RCV000051044] |
Chr19:259395..2555149 [GRCh38] Chr19:259395..2555147 [GRCh37] Chr19:210395..2506147 [NCBI36] Chr19:19p13.3 |
pathogenic |
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] |
Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2 |
pathogenic |
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 |
copy number gain |
See cases [RCV000052878] |
Chr19:1565575..4108128 [GRCh38] Chr19:1565574..4108126 [GRCh37] Chr19:1516574..4059126 [NCBI36] Chr19:19p13.3 |
pathogenic |
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 |
copy number gain |
See cases [RCV000052879] |
Chr19:1972245..9648879 [GRCh38] Chr19:1972244..9759555 [GRCh37] Chr19:1923244..9620555 [NCBI36] Chr19:19p13.3-13.2 |
pathogenic |
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 |
copy number gain |
See cases [RCV000052575] |
Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3 |
pathogenic |
NM_032737.4(LMNB2):c.265-6C>T |
single nucleotide variant |
Acquired partial lipodystrophy [RCV000015560]|Progressive myoclonic epilepsy type 9 [RCV001079325]|not provided [RCV000057199] |
Chr19:2444546 [GRCh38] Chr19:2444544 [GRCh37] Chr19:19p13.3 |
risk factor|likely benign|not provided |
NM_032737.4(LMNB2):c.142G>A (p.Glu48Lys) |
single nucleotide variant |
not provided [RCV000057201] |
Chr19:2456792 [GRCh38] Chr19:2456790 [GRCh37] Chr19:19p13.3 |
not provided |
NM_032737.4(LMNB2):c.391G>T (p.Val131Phe) |
single nucleotide variant |
not provided [RCV000117494] |
Chr19:2444414 [GRCh38] Chr19:2444412 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001522000]|not provided [RCV001657747]|not specified [RCV000117495] |
Chr19:2433892 [GRCh38] Chr19:2433890 [GRCh37] Chr19:19p13.3 |
benign|likely benign |
NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys) |
single nucleotide variant |
LMNB2-related condition [RCV003393957]|Microcephaly 27, primary, autosomal dominant [RCV001292582] |
Chr19:2434305 [GRCh38] Chr19:2434303 [GRCh37] Chr19:19p13.3 |
pathogenic |
NM_032737.4(LMNB2):c.932G>A (p.Arg311His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001348566] |
Chr19:2434837 [GRCh38] Chr19:2434835 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 |
copy number loss |
See cases [RCV000134795] |
Chr19:1549144..4288720 [GRCh38] Chr19:1549143..4288717 [GRCh37] Chr19:1500143..4239717 [NCBI36] Chr19:19p13.3 |
pathogenic |
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 |
copy number gain |
See cases [RCV000134894] |
Chr19:421537..2897921 [GRCh38] Chr19:421537..2897919 [GRCh37] Chr19:372537..2848919 [NCBI36] Chr19:19p13.3 |
likely pathogenic |
GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3 |
copy number gain |
See cases [RCV000136880] |
Chr19:1351163..2555149 [GRCh38] Chr19:1351162..2555147 [GRCh37] Chr19:1302162..2506147 [NCBI36] Chr19:19p13.3 |
uncertain significance |
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 |
copy number gain |
See cases [RCV000142627] |
Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3 |
pathogenic |
LMNB2, TYR232HIS |
single nucleotide variant |
Acquired partial lipodystrophy [RCV000190898] |
Chr19:19p13.3 |
pathogenic|likely pathogenic|risk factor |
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000190899] |
Chr19:2438464 [GRCh38] Chr19:2438462 [GRCh37] Chr19:19p13.3 |
pathogenic |
NM_032737.4(LMNB2):c.1344C>T (p.Gly448=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000548271] |
Chr19:2433964 [GRCh38] Chr19:2433962 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.856-8C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000550999] |
Chr19:2434921 [GRCh38] Chr19:2434919 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1707C>T (p.Gly569=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000555760] |
Chr19:2431786 [GRCh38] Chr19:2431784 [GRCh37] Chr19:19p13.3 |
likely benign |
GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3 |
copy number gain |
See cases [RCV000239912] |
Chr19:1952590..2698712 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 |
copy number gain |
See cases [RCV000240507] |
Chr19:277373..2555164 [GRCh37] Chr19:19p13.3 |
pathogenic |
GRCh37/hg19 19p13.3(chr19:259395-3152419) |
copy number gain |
Global developmental delay [RCV000626520] |
Chr19:259395..3152419 [GRCh37] Chr19:19p13.3 |
likely pathogenic |
NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000806349] |
Chr19:2434415 [GRCh38] Chr19:2434413 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1363G>C (p.Gly455Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000526944] |
Chr19:2433945 [GRCh38] Chr19:2433943 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000527887] |
Chr19:2434052 [GRCh38] Chr19:2434050 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1575C>T (p.Ala525=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000530323]|not provided [RCV003456415] |
Chr19:2432431 [GRCh38] Chr19:2432429 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.558+5G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000537029] |
Chr19:2438370 [GRCh38] Chr19:2438368 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1698C>T (p.Asn566=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000540897] |
Chr19:2431795 [GRCh38] Chr19:2431793 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000687005]|not specified [RCV000504424] |
Chr19:2431794 [GRCh38] Chr19:2431792 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.402C>T (p.Ser134=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001079279]|not provided [RCV000585167]|not specified [RCV000502022] |
Chr19:2438531 [GRCh38] Chr19:2438529 [GRCh37] Chr19:19p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032737.4(LMNB2):c.804C>T (p.Asp268=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001081970]|not provided [RCV000557351]|not specified [RCV000500283] |
Chr19:2435052 [GRCh38] Chr19:2435050 [GRCh37] Chr19:19p13.3 |
benign|likely benign |
NM_032737.4(LMNB2):c.712G>A (p.Glu238Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000698587] |
Chr19:2435144 [GRCh38] Chr19:2435142 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1332C>T (p.Pro444=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000542480] |
Chr19:2433976 [GRCh38] Chr19:2433974 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1855G>A (p.Val619Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003240166] |
Chr19:2430919 [GRCh38] Chr19:2430917 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.902G>T (p.Ser301Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003282653] |
Chr19:2434867 [GRCh38] Chr19:2434865 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1821+4G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000529382] |
Chr19:2431544 [GRCh38] Chr19:2431542 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
NM_032737.4(LMNB2):c.815G>A (p.Arg272Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000536099] |
Chr19:2435041 [GRCh38] Chr19:2435039 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.265-19C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001336788]|Progressive myoclonic epilepsy type 9 [RCV002060212]|not provided [RCV000513924] |
Chr19:2444559 [GRCh38] Chr19:2444557 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652850] |
Chr19:2434064 [GRCh38] Chr19:2434062 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652851]|not provided [RCV001532366] |
Chr19:2435156 [GRCh38] Chr19:2435154 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.157C>T (p.Leu53Phe) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652852] |
Chr19:2456777 [GRCh38] Chr19:2456775 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1091G>A (p.Arg364Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652853] |
Chr19:2434406 [GRCh38] Chr19:2434404 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652854] |
Chr19:2438456 [GRCh38] Chr19:2438454 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.691C>T (p.Arg231Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652855] |
Chr19:2435165 [GRCh38] Chr19:2435163 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652856] |
Chr19:2434299 [GRCh38] Chr19:2434297 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652857] |
Chr19:2431811 [GRCh38] Chr19:2431809 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.273C>T (p.Gly91=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652858] |
Chr19:2444532 [GRCh38] Chr19:2444530 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.514G>A (p.Gly172Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002534182]|Progressive myoclonic epilepsy type 9 [RCV000652859] |
Chr19:2438419 [GRCh38] Chr19:2438417 [GRCh37] Chr19:19p13.3 |
benign|likely benign|uncertain significance |
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002534183]|Progressive myoclonic epilepsy type 9 [RCV000652860]|not provided [RCV000712223] |
Chr19:2438273 [GRCh38] Chr19:2438271 [GRCh37] Chr19:19p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652861] |
Chr19:2433996 [GRCh38] Chr19:2433994 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.982-4G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652862]|not provided [RCV003424252] |
Chr19:2434519 [GRCh38] Chr19:2434517 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1029C>T (p.Ala343=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652863] |
Chr19:2434468 [GRCh38] Chr19:2434466 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1247G>T (p.Arg416Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652864] |
Chr19:2434061 [GRCh38] Chr19:2434059 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.906G>A (p.Ala302=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652865] |
Chr19:2434863 [GRCh38] Chr19:2434861 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.264+7G>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652866] |
Chr19:2456663 [GRCh38] Chr19:2456661 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.855+8C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652867] |
Chr19:2434993 [GRCh38] Chr19:2434991 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.255C>G (p.Thr85=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001081200]|not provided [RCV000652868] |
Chr19:2456679 [GRCh38] Chr19:2456677 [GRCh37] Chr19:19p13.3 |
benign|likely benign |
NM_032737.4(LMNB2):c.1822-20TCCT[6] |
microsatellite |
Progressive myoclonic epilepsy type 9 [RCV000652869] |
Chr19:2430956..2430957 [GRCh38] Chr19:2430954..2430955 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1776G>A (p.Glu592=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000652870] |
Chr19:2431593 [GRCh38] Chr19:2431591 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.428C>T (p.Thr143Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000533296] |
Chr19:2438505 [GRCh38] Chr19:2438503 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_032737.4(LMNB2):c.575C>T (p.Ala192Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000685668] |
Chr19:2438272 [GRCh38] Chr19:2438270 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.512G>A (p.Arg171His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000701001] |
Chr19:2438421 [GRCh38] Chr19:2438419 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1231C>T (p.Arg411Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000701334] |
Chr19:2434077 [GRCh38] Chr19:2434075 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 |
copy number gain |
not provided [RCV000684094] |
Chr19:260911..3200875 [GRCh37] Chr19:19p13.3 |
pathogenic |
NM_032737.4(LMNB2):c.1298G>A (p.Arg433His) |
single nucleotide variant |
Inborn genetic diseases [RCV002533554]|Progressive myoclonic epilepsy type 9 [RCV000699341] |
Chr19:2434010 [GRCh38] Chr19:2434008 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000699451] |
Chr19:2432436 [GRCh38] Chr19:2432434 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002533581]|Progressive myoclonic epilepsy type 9 [RCV000700084] |
Chr19:2434052 [GRCh38] Chr19:2434050 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000686142] |
Chr19:2438515 [GRCh38] Chr19:2438513 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.11C>T (p.Pro4Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000701060] |
Chr19:2456923 [GRCh38] Chr19:2456921 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.658G>C (p.Asp220His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000692704] |
Chr19:2438189 [GRCh38] Chr19:2438187 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000707523] |
Chr19:2438476 [GRCh38] Chr19:2438474 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1278C>T (p.Ser426=) |
single nucleotide variant |
not provided [RCV000712221] |
Chr19:2434030 [GRCh38] Chr19:2434028 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003163229]|Progressive myoclonic epilepsy type 9 [RCV000698660]|Progressive myoclonic epilepsy type 9 [RCV001836865] |
Chr19:2435114 [GRCh38] Chr19:2435112 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.177C>A (p.His59Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000699058] |
Chr19:2456757 [GRCh38] Chr19:2456755 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1351G>A (p.Val451Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000692903] |
Chr19:2433957 [GRCh38] Chr19:2433955 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.685-8G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000704451] |
Chr19:2435179 [GRCh38] Chr19:2435177 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1202+4C>G |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000688749] |
Chr19:2434291 [GRCh38] Chr19:2434289 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_032737.4(LMNB2):c.265-27G>A |
single nucleotide variant |
not provided [RCV001540037] |
Chr19:2444567 [GRCh38] Chr19:2444565 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1822-220C>T |
single nucleotide variant |
not provided [RCV001612215] |
Chr19:2431172 [GRCh38] Chr19:2431170 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.912C>A (p.Arg304=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000919289]|not specified [RCV001664549] |
Chr19:2434857 [GRCh38] Chr19:2434855 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.265-295G>A |
single nucleotide variant |
not provided [RCV001666447] |
Chr19:2444835 [GRCh38] Chr19:2444833 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.982-38T>C |
single nucleotide variant |
not provided [RCV001645387] |
Chr19:2434553 [GRCh38] Chr19:2434551 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1608G>A (p.Ala536=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001858559]|not provided [RCV003424453] |
Chr19:2431885 [GRCh38] Chr19:2431883 [GRCh37] Chr19:19p13.3 |
likely benign |
NC_000019.10:g.(?_2456650)_(2456953_?)dup |
duplication |
Progressive myoclonic epilepsy type 9 [RCV001031506] |
Chr19:2456648..2456951 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3(chr19:2422072-2444608)x3 |
copy number gain |
not provided [RCV000752513] |
Chr19:2422072..2444608 [GRCh37] Chr19:19p13.3 |
benign |
GRCh37/hg19 19p13.3(chr19:2422087-2444608)x3 |
copy number gain |
not provided [RCV000752514] |
Chr19:2422087..2444608 [GRCh37] Chr19:19p13.3 |
benign |
GRCh37/hg19 19p13.3(chr19:2422087-2477316)x3 |
copy number gain |
not provided [RCV000752515] |
Chr19:2422087..2477316 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1257G>A (p.Ser419=) |
single nucleotide variant |
not provided [RCV000904159] |
Chr19:2434051 [GRCh38] Chr19:2434049 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.982-5C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000905594] |
Chr19:2434520 [GRCh38] Chr19:2434518 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.927G>A (p.Glu309=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001496738] |
Chr19:2434842 [GRCh38] Chr19:2434840 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.342T>C (p.Arg114=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001414380]|not provided [RCV003456461] |
Chr19:2444463 [GRCh38] Chr19:2444461 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1842A>G (p.Ser614=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000926336] |
Chr19:2430932 [GRCh38] Chr19:2430930 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.288C>T (p.Tyr96=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000966689]|not provided [RCV003424502] |
Chr19:2444517 [GRCh38] Chr19:2444515 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.969C>A (p.Gly323=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002066082] |
Chr19:2434800 [GRCh38] Chr19:2434798 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.864C>T (p.Ser288=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000944762] |
Chr19:2434905 [GRCh38] Chr19:2434903 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1288C>T (p.Arg430Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001068686] |
Chr19:2434020 [GRCh38] Chr19:2434018 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1232G>A (p.Arg411His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001048946] |
Chr19:2434076 [GRCh38] Chr19:2434074 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.1030G>A (p.Gly344Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000808446] |
Chr19:2434467 [GRCh38] Chr19:2434465 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NC_000019.9:g.1406030_3597207dup |
duplication |
Neurodevelopmental disorder [RCV000787423] |
Chr19:1406030..3597207 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1830G>A (p.Pro610=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001489749] |
Chr19:2430944 [GRCh38] Chr19:2430942 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.561C>T (p.Ala187=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001869318] |
Chr19:2438286 [GRCh38] Chr19:2438284 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1284C>T (p.Thr428=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001478244] |
Chr19:2434024 [GRCh38] Chr19:2434022 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1137C>T (p.Asp379=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000886497]|not provided [RCV003413711] |
Chr19:2434360 [GRCh38] Chr19:2434358 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.15C>T (p.Ser5=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001476979] |
Chr19:2456919 [GRCh38] Chr19:2456917 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1482+7G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000903089] |
Chr19:2433819 [GRCh38] Chr19:2433817 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.180C>T (p.Tyr60=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000979789] |
Chr19:2456754 [GRCh38] Chr19:2456752 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.303C>T (p.Ala101=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002545929] |
Chr19:2444502 [GRCh38] Chr19:2444500 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1542C>T (p.Ala514=) |
single nucleotide variant |
not provided [RCV000880552] |
Chr19:2432464 [GRCh38] Chr19:2432462 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.492A>T (p.Ala164=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001472403] |
Chr19:2438441 [GRCh38] Chr19:2438439 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.499C>G (p.Leu167Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000820740] |
Chr19:2438434 [GRCh38] Chr19:2438432 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.59C>T (p.Thr20Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000798517] |
Chr19:2456875 [GRCh38] Chr19:2456873 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000819674]|not provided [RCV003482318] |
Chr19:2431580 [GRCh38] Chr19:2431578 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000808100]|Progressive myoclonic epilepsy type 9 [RCV001336789] |
Chr19:2444524 [GRCh38] Chr19:2444522 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.493G>T (p.Ala165Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000802022] |
Chr19:2438440 [GRCh38] Chr19:2438438 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003166213]|Progressive myoclonic epilepsy type 9 [RCV000802110] |
Chr19:2431619 [GRCh38] Chr19:2431617 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000811948] |
Chr19:2433841 [GRCh38] Chr19:2433839 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.101C>T (p.Thr34Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000812186] |
Chr19:2456833 [GRCh38] Chr19:2456831 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1096G>A (p.Val366Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000823606] |
Chr19:2434401 [GRCh38] Chr19:2434399 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000817904]|not provided [RCV001289027] |
Chr19:2432453 [GRCh38] Chr19:2432451 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1681C>T (p.Arg561Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000797907] |
Chr19:2431812 [GRCh38] Chr19:2431810 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.403G>A (p.Ala135Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000794090] |
Chr19:2438530 [GRCh38] Chr19:2438528 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.1402G>A (p.Ala468Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000814489] |
Chr19:2433906 [GRCh38] Chr19:2433904 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.802G>A (p.Asp268Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000821473] |
Chr19:2435054 [GRCh38] Chr19:2435052 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1057C>A (p.Leu353Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000798293] |
Chr19:2434440 [GRCh38] Chr19:2434438 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.886A>C (p.Asn296His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000805629] |
Chr19:2434883 [GRCh38] Chr19:2434881 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.331G>T (p.Ala111Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000811527] |
Chr19:2444474 [GRCh38] Chr19:2444472 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000795182]|not provided [RCV003456431] |
Chr19:2434859 [GRCh38] Chr19:2434857 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000809866] |
Chr19:2434023 [GRCh38] Chr19:2434021 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.16C>T (p.Pro6Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000802643] |
Chr19:2456918 [GRCh38] Chr19:2456916 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.982-10C>T |
single nucleotide variant |
not provided [RCV000940007] |
Chr19:2434525 [GRCh38] Chr19:2434523 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000794609]|not specified [RCV001816848] |
Chr19:2434448 [GRCh38] Chr19:2434446 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1378G>A (p.Gly460Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000816849] |
Chr19:2433930 [GRCh38] Chr19:2433928 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
Single allele |
deletion |
Internal malformations [RCV000787421] |
Chr19:2229488..4004142 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3 |
copy number gain |
See cases [RCV001194584] |
Chr19:2273150..2897133 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3(chr19:2389731-2925532)x1 |
copy number loss |
not provided [RCV000848937] |
Chr19:2389731..2925532 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.757G>A (p.Asp253Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001066198] |
Chr19:2435099 [GRCh38] Chr19:2435097 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1720A>G (p.Met574Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001044774] |
Chr19:2431649 [GRCh38] Chr19:2431647 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.25C>T (p.Arg9Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001220430] |
Chr19:2456909 [GRCh38] Chr19:2456907 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001239523]|not specified [RCV001819937] |
Chr19:2433902 [GRCh38] Chr19:2433900 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1156A>G (p.Met386Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001243268] |
Chr19:2434341 [GRCh38] Chr19:2434339 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.542G>A (p.Arg181Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001226373] |
Chr19:2438391 [GRCh38] Chr19:2438389 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1742C>T (p.Ser581Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001246938]|not provided [RCV003414066] |
Chr19:2431627 [GRCh38] Chr19:2431625 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.967G>A (p.Gly323Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003263884]|Progressive myoclonic epilepsy type 9 [RCV001242337] |
Chr19:2434802 [GRCh38] Chr19:2434800 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.473G>A (p.Arg158Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001238656] |
Chr19:2438460 [GRCh38] Chr19:2438458 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 |
copy number gain |
not provided [RCV000846988] |
Chr19:260911..4788357 [GRCh37] Chr19:19p13.3 |
pathogenic |
NM_032737.4(LMNB2):c.1216C>A (p.Pro406Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001230239] |
Chr19:2434092 [GRCh38] Chr19:2434090 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NC_000019.9:g.(?_589946)_(4818389_?)dup |
duplication |
not provided [RCV003105391] |
Chr19:589946..4818389 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.402-272A>G |
single nucleotide variant |
not provided [RCV001645288] |
Chr19:2438803 [GRCh38] Chr19:2438801 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1821+291C>T |
single nucleotide variant |
not provided [RCV001617927] |
Chr19:2431257 [GRCh38] Chr19:2431255 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1591-173C>T |
single nucleotide variant |
not provided [RCV001694380] |
Chr19:2432075 [GRCh38] Chr19:2432073 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.843C>T (p.Thr281=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000952187] |
Chr19:2435013 [GRCh38] Chr19:2435011 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1368G>A (p.Thr456=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000951654] |
Chr19:2433940 [GRCh38] Chr19:2433938 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1830G>T (p.Pro610=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000929792] |
Chr19:2430944 [GRCh38] Chr19:2430942 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1686C>T (p.Thr562=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000916575] |
Chr19:2431807 [GRCh38] Chr19:2431805 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000952410] |
Chr19:2438422 [GRCh38] Chr19:2438420 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1230G>A (p.Ser410=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000888859] |
Chr19:2434078 [GRCh38] Chr19:2434076 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1711-6G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001858587] |
Chr19:2431664 [GRCh38] Chr19:2431662 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1822-20TCCT[5] |
microsatellite |
Progressive myoclonic epilepsy type 9 [RCV001467589] |
Chr19:2430956..2430957 [GRCh38] Chr19:2430954..2430955 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1567C>T (p.Leu523=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001412606] |
Chr19:2432439 [GRCh38] Chr19:2432437 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.330G>A (p.Thr110=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002066277] |
Chr19:2444475 [GRCh38] Chr19:2444473 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.888C>T (p.Asn296=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001491875] |
Chr19:2434881 [GRCh38] Chr19:2434879 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.903T>C (p.Ser301=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000940667] |
Chr19:2434866 [GRCh38] Chr19:2434864 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000952022]|Progressive myoclonic epilepsy type 9 [RCV001336787] |
Chr19:2431573 [GRCh38] Chr19:2431571 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.264+260G>T |
single nucleotide variant |
not provided [RCV001665213] |
Chr19:2456410 [GRCh38] Chr19:2456408 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1047C>G (p.Phe349Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002554623]|Progressive myoclonic epilepsy type 9 [RCV001071326] |
Chr19:2434450 [GRCh38] Chr19:2434448 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001227755]|not provided [RCV000992276] |
Chr19:2434434 [GRCh38] Chr19:2434432 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.442C>T (p.Arg148Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001232161] |
Chr19:2438491 [GRCh38] Chr19:2438489 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.147G>C (p.Glu49Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001245130] |
Chr19:2456787 [GRCh38] Chr19:2456785 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.715C>T (p.Arg239Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001067718] |
Chr19:2435141 [GRCh38] Chr19:2435139 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1407G>A (p.Ser469=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001511132] |
Chr19:2433901 [GRCh38] Chr19:2433899 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1062C>T (p.Asp354=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000891133] |
Chr19:2434435 [GRCh38] Chr19:2434433 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1197G>A (p.Glu399=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000957821] |
Chr19:2434300 [GRCh38] Chr19:2434298 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.567C>T (p.Asp189=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001473277] |
Chr19:2438280 [GRCh38] Chr19:2438278 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.684+10T>C |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000935936] |
Chr19:2438153 [GRCh38] Chr19:2438151 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.777G>A (p.Ala259=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000913475] |
Chr19:2435079 [GRCh38] Chr19:2435077 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1743G>C (p.Ser581=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV000911394]|not specified [RCV001818830] |
Chr19:2431626 [GRCh38] Chr19:2431624 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.657G>A (p.Leu219=) |
single nucleotide variant |
not provided [RCV000890640] |
Chr19:2438190 [GRCh38] Chr19:2438188 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.*272G>C |
single nucleotide variant |
not provided [RCV001651455] |
Chr19:2430639 [GRCh38] Chr19:2430637 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1821+274A>C |
single nucleotide variant |
not provided [RCV001654600] |
Chr19:2431274 [GRCh38] Chr19:2431272 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.685-287A>G |
single nucleotide variant |
not provided [RCV001597408] |
Chr19:2435458 [GRCh38] Chr19:2435456 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.265-70C>T |
single nucleotide variant |
not provided [RCV001655440] |
Chr19:2444610 [GRCh38] Chr19:2444608 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.402-262G>C |
single nucleotide variant |
not provided [RCV001687069] |
Chr19:2438793 [GRCh38] Chr19:2438791 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.856-30G>A |
single nucleotide variant |
not provided [RCV001677315] |
Chr19:2434943 [GRCh38] Chr19:2434941 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.341G>A (p.Arg114His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001071267] |
Chr19:2444464 [GRCh38] Chr19:2444462 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1279G>T (p.Ala427Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001036213] |
Chr19:2434029 [GRCh38] Chr19:2434027 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1267G>A (p.Gly423Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001068622] |
Chr19:2434041 [GRCh38] Chr19:2434039 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1483-34T>C |
single nucleotide variant |
not provided [RCV001693113] |
Chr19:2432557 [GRCh38] Chr19:2432555 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.685-165C>T |
single nucleotide variant |
not provided [RCV001710727] |
Chr19:2435336 [GRCh38] Chr19:2435334 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.402-136G>A |
single nucleotide variant |
not provided [RCV001648288] |
Chr19:2438667 [GRCh38] Chr19:2438665 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1483-260G>A |
single nucleotide variant |
not provided [RCV001682276] |
Chr19:2432783 [GRCh38] Chr19:2432781 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.684+42G>A |
single nucleotide variant |
not provided [RCV001694737] |
Chr19:2438121 [GRCh38] Chr19:2438119 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.684+163G>A |
single nucleotide variant |
not provided [RCV001709152] |
Chr19:2438000 [GRCh38] Chr19:2437998 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1749G>T (p.Met583Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001067956] |
Chr19:2431620 [GRCh38] Chr19:2431618 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.344C>G (p.Ala115Gly) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001214814] |
Chr19:2444461 [GRCh38] Chr19:2444459 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.35A>C (p.Gln12Pro) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001237212] |
Chr19:2456899 [GRCh38] Chr19:2456897 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.624G>A (p.Leu208=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001042688] |
Chr19:2438223 [GRCh38] Chr19:2438221 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.1361C>T (p.Thr454Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001202831] |
Chr19:2433947 [GRCh38] Chr19:2433945 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1342G>T (p.Gly448Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001208738] |
Chr19:2433966 [GRCh38] Chr19:2433964 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.311G>T (p.Arg104Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001216726] |
Chr19:2444494 [GRCh38] Chr19:2444492 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1682G>A (p.Arg561His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001048023] |
Chr19:2431811 [GRCh38] Chr19:2431809 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.1012C>A (p.Leu338Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001059521] |
Chr19:2434485 [GRCh38] Chr19:2434483 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1751G>A (p.Arg584His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001246374] |
Chr19:2431618 [GRCh38] Chr19:2431616 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.863G>A (p.Ser288Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001216989] |
Chr19:2434906 [GRCh38] Chr19:2434904 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 |
copy number gain |
not provided [RCV001007025] |
Chr19:260911..3501271 [GRCh37] Chr19:19p13.3 |
pathogenic |
NM_032737.4(LMNB2):c.955T>C (p.Tyr319His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001228977] |
Chr19:2434814 [GRCh38] Chr19:2434812 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 |
copy number gain |
See cases [RCV001007443] |
Chr19:260912..4384674 [GRCh37] Chr19:19p13.3 |
pathogenic |
NM_032737.4(LMNB2):c.388G>A (p.Glu130Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001064532] |
Chr19:2444417 [GRCh38] Chr19:2444415 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.632G>T (p.Arg211Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001216468] |
Chr19:2438215 [GRCh38] Chr19:2438213 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.757_759del (p.Asp253del) |
deletion |
Progressive myoclonic epilepsy type 9 [RCV001038698] |
Chr19:2435097..2435099 [GRCh38] Chr19:2435095..2435097 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.49G>T (p.Ala17Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001063434] |
Chr19:2456885 [GRCh38] Chr19:2456883 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1428C>G (p.Ile476Met) |
single nucleotide variant |
Acquired partial lipodystrophy [RCV001253316] |
Chr19:2433880 [GRCh38] Chr19:2433878 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.481G>C (p.Val161Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001298942] |
Chr19:2438452 [GRCh38] Chr19:2438450 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1234G>A (p.Val412Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001863149]|not provided [RCV001289026] |
Chr19:2434074 [GRCh38] Chr19:2434072 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1408G>A (p.Ala470Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001317815] |
Chr19:2433900 [GRCh38] Chr19:2433898 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1708G>A (p.Glu570Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001348161] |
Chr19:2431785 [GRCh38] Chr19:2431783 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1247G>A (p.Arg416Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001338340] |
Chr19:2434061 [GRCh38] Chr19:2434059 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.559-2A>G |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001326275] |
Chr19:2438290 [GRCh38] Chr19:2438288 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.665G>A (p.Arg222Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001315642] |
Chr19:2438182 [GRCh38] Chr19:2438180 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1016A>C (p.Glu339Ala) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001361444] |
Chr19:2434481 [GRCh38] Chr19:2434479 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.991G>A (p.Ala331Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001369658] |
Chr19:2434506 [GRCh38] Chr19:2434504 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.472C>T (p.Arg158Trp) |
single nucleotide variant |
Generalized myoclonic seizure [RCV001270025]|Progressive myoclonic epilepsy type 9 [RCV001365776] |
Chr19:2438461 [GRCh38] Chr19:2438459 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1528G>T (p.Gly510Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001369841] |
Chr19:2432478 [GRCh38] Chr19:2432476 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1250C>A (p.Ala417Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001370796] |
Chr19:2434058 [GRCh38] Chr19:2434056 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.855+9G>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001392091] |
Chr19:2434992 [GRCh38] Chr19:2434990 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.402-18_402-3del |
deletion |
Progressive myoclonic epilepsy type 9 [RCV001348508] |
Chr19:2438534..2438549 [GRCh38] Chr19:2438532..2438547 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1465A>C (p.Lys489Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001358973] |
Chr19:2433843 [GRCh38] Chr19:2433841 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1597G>A (p.Ala533Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001370182] |
Chr19:2431896 [GRCh38] Chr19:2431894 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.529G>A (p.Val177Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001362874] |
Chr19:2438404 [GRCh38] Chr19:2438402 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.351G>A (p.Leu117=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001397328] |
Chr19:2444454 [GRCh38] Chr19:2444452 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.617T>C (p.Val206Ala) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001322884] |
Chr19:2438230 [GRCh38] Chr19:2438228 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.84C>T (p.Arg28=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001320110] |
Chr19:2456850 [GRCh38] Chr19:2456848 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.592C>A (p.Leu198Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001323079] |
Chr19:2438255 [GRCh38] Chr19:2438253 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1776GGA[2] (p.Glu595del) |
microsatellite |
Progressive myoclonic epilepsy type 9 [RCV001365269] |
Chr19:2431585..2431587 [GRCh38] Chr19:2431583..2431585 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.85G>C (p.Ala29Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002546998]|Progressive myoclonic epilepsy type 9 [RCV001343999]|not provided [RCV002511082] |
Chr19:2456849 [GRCh38] Chr19:2456847 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1687G>A (p.Val563Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001324824] |
Chr19:2431806 [GRCh38] Chr19:2431804 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.512G>T (p.Arg171Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001347304] |
Chr19:2438421 [GRCh38] Chr19:2438419 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1618del (p.His540fs) |
deletion |
Progressive myoclonic epilepsy type 9 [RCV001344189] |
Chr19:2431875 [GRCh38] Chr19:2431873 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1007G>A (p.Arg336Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001294769] |
Chr19:2434490 [GRCh38] Chr19:2434488 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1090C>T (p.Arg364Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001340041] |
Chr19:2434407 [GRCh38] Chr19:2434405 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.541C>T (p.Arg181Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001338320] |
Chr19:2438392 [GRCh38] Chr19:2438390 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1701G>A (p.Ala567=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001304635] |
Chr19:2431792 [GRCh38] Chr19:2431790 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.329C>T (p.Thr110Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001344524] |
Chr19:2444476 [GRCh38] Chr19:2444474 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1412C>T (p.Ser471Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001344548] |
Chr19:2433896 [GRCh38] Chr19:2433894 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.605C>T (p.Thr202Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001364381] |
Chr19:2438242 [GRCh38] Chr19:2438240 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.613C>T (p.Arg205Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001314524] |
Chr19:2438234 [GRCh38] Chr19:2438232 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.572A>G (p.His191Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001336790]|Progressive myoclonic epilepsy type 9 [RCV001865855] |
Chr19:2438275 [GRCh38] Chr19:2438273 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.891C>G (p.Asp297Glu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001336791] |
Chr19:2434878 [GRCh38] Chr19:2434876 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.421G>A (p.Glu141Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001309680] |
Chr19:2438512 [GRCh38] Chr19:2438510 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1623C>T (p.Ser541=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001422061] |
Chr19:2431870 [GRCh38] Chr19:2431868 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.896C>T (p.Ala299Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001367401] |
Chr19:2434873 [GRCh38] Chr19:2434871 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.642C>T (p.Ser214=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001421328] |
Chr19:2438205 [GRCh38] Chr19:2438203 [GRCh37] Chr19:19p13.3 |
likely benign |
NC_000019.9:g.(?_2456648)_(2456951_?)dup |
duplication |
Epilepsy, progressive myoclonic, 9 [RCV001315130] |
Chr19:2456648..2456951 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.311G>A (p.Arg104Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001351619] |
Chr19:2444494 [GRCh38] Chr19:2444492 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1041C>T (p.Asp347=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001396074] |
Chr19:2434456 [GRCh38] Chr19:2434454 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.335G>A (p.Arg112Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001308510] |
Chr19:2444470 [GRCh38] Chr19:2444468 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.614G>A (p.Arg205His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001339840] |
Chr19:2438233 [GRCh38] Chr19:2438231 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1248A>G (p.Arg416=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001490163] |
Chr19:2434060 [GRCh38] Chr19:2434058 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.559-5C>G |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001487800] |
Chr19:2438293 [GRCh38] Chr19:2438291 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1740C>T (p.Ser580=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001503846] |
Chr19:2431629 [GRCh38] Chr19:2431627 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1590+237G>A |
single nucleotide variant |
not provided [RCV001527930] |
Chr19:2432179 [GRCh38] Chr19:2432177 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.387C>T (p.Asp129=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001403349] |
Chr19:2444418 [GRCh38] Chr19:2444416 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1711-8C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001485794] |
Chr19:2431666 [GRCh38] Chr19:2431664 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.198G>A (p.Ala66=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001487680] |
Chr19:2456736 [GRCh38] Chr19:2456734 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1202+10G>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001492083] |
Chr19:2434285 [GRCh38] Chr19:2434283 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.204G>A (p.Glu68=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001467745] |
Chr19:2456730 [GRCh38] Chr19:2456728 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.252G>C (p.Val84=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001427937] |
Chr19:2456682 [GRCh38] Chr19:2456680 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1821+7C>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001439001] |
Chr19:2431541 [GRCh38] Chr19:2431539 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.982-8C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001447447] |
Chr19:2434523 [GRCh38] Chr19:2434521 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.999T>G (p.Asp333Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003160769]|Progressive myoclonic epilepsy type 9 [RCV001440342] |
Chr19:2434498 [GRCh38] Chr19:2434496 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1483-4C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001398136] |
Chr19:2432527 [GRCh38] Chr19:2432525 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.966C>T (p.Ser322=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001409077] |
Chr19:2434803 [GRCh38] Chr19:2434801 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1431G>A (p.Glu477=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001411596] |
Chr19:2433877 [GRCh38] Chr19:2433875 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.528C>T (p.Asp176=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001431903] |
Chr19:2438405 [GRCh38] Chr19:2438403 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1632G>A (p.Ser544=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001406528] |
Chr19:2431861 [GRCh38] Chr19:2431859 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.402-149G>T |
single nucleotide variant |
not provided [RCV001536251] |
Chr19:2438680 [GRCh38] Chr19:2438678 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1483-182A>G |
single nucleotide variant |
not provided [RCV001709361] |
Chr19:2432705 [GRCh38] Chr19:2432703 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1239C>T (p.Thr413=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001495809] |
Chr19:2434069 [GRCh38] Chr19:2434067 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.111G>A (p.Ser37=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001474165] |
Chr19:2456823 [GRCh38] Chr19:2456821 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1711-7C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001516591] |
Chr19:2431665 [GRCh38] Chr19:2431663 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1202+48A>G |
single nucleotide variant |
not provided [RCV001698562] |
Chr19:2434247 [GRCh38] Chr19:2434245 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.265-224C>T |
single nucleotide variant |
not provided [RCV001686692] |
Chr19:2444764 [GRCh38] Chr19:2444762 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1590+71A>G |
single nucleotide variant |
not provided [RCV001652077] |
Chr19:2432345 [GRCh38] Chr19:2432343 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.51C>T (p.Ala17=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001497558] |
Chr19:2456883 [GRCh38] Chr19:2456881 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.982-4G>C |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001505366] |
Chr19:2434519 [GRCh38] Chr19:2434517 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.513C>T (p.Arg171=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001453823] |
Chr19:2438420 [GRCh38] Chr19:2438418 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1539C>T (p.Ile513=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001453856] |
Chr19:2432467 [GRCh38] Chr19:2432465 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.401+39T>C |
single nucleotide variant |
not provided [RCV001616492] |
Chr19:2444365 [GRCh38] Chr19:2444363 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.153C>A (p.Arg51=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001419377] |
Chr19:2456781 [GRCh38] Chr19:2456779 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1233C>A (p.Arg411=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001495136] |
Chr19:2434075 [GRCh38] Chr19:2434073 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1854C>T (p.Tyr618=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001467104] |
Chr19:2430920 [GRCh38] Chr19:2430918 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1788C>T (p.Ala596=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001473828] |
Chr19:2431581 [GRCh38] Chr19:2431579 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.738C>T (p.Ser246=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001501967] |
Chr19:2435118 [GRCh38] Chr19:2435116 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.699G>A (p.Thr233=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001429211] |
Chr19:2435157 [GRCh38] Chr19:2435155 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.291G>A (p.Glu97=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001403705] |
Chr19:2444514 [GRCh38] Chr19:2444512 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1251C>T (p.Ala417=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001440199] |
Chr19:2434057 [GRCh38] Chr19:2434055 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1629C>T (p.Pro543=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001406459]|not provided [RCV003426080] |
Chr19:2431864 [GRCh38] Chr19:2431862 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.729G>A (p.Glu243=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001480292] |
Chr19:2435127 [GRCh38] Chr19:2435125 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.18G>C (p.Pro6=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001464610] |
Chr19:2456916 [GRCh38] Chr19:2456914 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.69G>A (p.Thr23=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001406670] |
Chr19:2456865 [GRCh38] Chr19:2456863 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.685-4G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001440645] |
Chr19:2435175 [GRCh38] Chr19:2435173 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.711C>T (p.His237=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001398148] |
Chr19:2435145 [GRCh38] Chr19:2435143 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.228C>G (p.Leu76=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001456197] |
Chr19:2456706 [GRCh38] Chr19:2456704 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.615T>C (p.Arg205=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001495293] |
Chr19:2438232 [GRCh38] Chr19:2438230 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1275G>C (p.Leu425Phe) |
single nucleotide variant |
not specified [RCV002247949] |
Chr19:2434033 [GRCh38] Chr19:2434031 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1777G>C (p.Glu593Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001969829]|not provided [RCV003418234] |
Chr19:2431592 [GRCh38] Chr19:2431590 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1350C>A (p.Ser450Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001895700] |
Chr19:2433958 [GRCh38] Chr19:2433956 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.705_719del (p.Arg236_Arg240del) |
deletion |
Progressive myoclonic epilepsy type 9 [RCV001950023] |
Chr19:2435137..2435151 [GRCh38] Chr19:2435135..2435149 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1434G>T (p.Glu478Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002008308] |
Chr19:2433874 [GRCh38] Chr19:2433872 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.402C>A (p.Ser134Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001946310] |
Chr19:2438531 [GRCh38] Chr19:2438529 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.965C>T (p.Ser322Phe) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001912650] |
Chr19:2434804 [GRCh38] Chr19:2434802 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.889G>A (p.Asp297Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002008945] |
Chr19:2434880 [GRCh38] Chr19:2434878 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.922A>G (p.Lys308Glu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002025680] |
Chr19:2434847 [GRCh38] Chr19:2434845 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1711-3C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001892852] |
Chr19:2431661 [GRCh38] Chr19:2431659 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.1035G>T (p.Glu345Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001911489] |
Chr19:2434462 [GRCh38] Chr19:2434460 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1297C>T (p.Arg433Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001892461] |
Chr19:2434011 [GRCh38] Chr19:2434009 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.454C>A (p.Leu152Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002042333] |
Chr19:2438479 [GRCh38] Chr19:2438477 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1289G>A (p.Arg430His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001910370] |
Chr19:2434019 [GRCh38] Chr19:2434017 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.692G>A (p.Arg231Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001911158] |
Chr19:2435164 [GRCh38] Chr19:2435162 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1515G>T (p.Arg505Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001911762] |
Chr19:2432491 [GRCh38] Chr19:2432489 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1204C>T (p.Leu402=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001967331] |
Chr19:2434104 [GRCh38] Chr19:2434102 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.5G>A (p.Ser2Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001945927] |
Chr19:2456929 [GRCh38] Chr19:2456927 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.23G>A (p.Arg8His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001926424] |
Chr19:2456911 [GRCh38] Chr19:2456909 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1631C>T (p.Ser544Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002024055] |
Chr19:2431862 [GRCh38] Chr19:2431860 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.684+3G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002021584] |
Chr19:2438160 [GRCh38] Chr19:2438158 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1313G>A (p.Arg438Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001871215] |
Chr19:2433995 [GRCh38] Chr19:2433993 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1822G>A (p.Gly608Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001911231] |
Chr19:2430952 [GRCh38] Chr19:2430950 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.395A>G (p.Asn132Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001969668] |
Chr19:2444410 [GRCh38] Chr19:2444408 [GRCh37] Chr19:19p13.3 |
benign|uncertain significance |
NM_032737.4(LMNB2):c.8C>G (p.Pro3Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001928677] |
Chr19:2456926 [GRCh38] Chr19:2456924 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1203-14T>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001894867] |
Chr19:2434119 [GRCh38] Chr19:2434117 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.310C>T (p.Arg104Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001895525] |
Chr19:2444495 [GRCh38] Chr19:2444493 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.596A>G (p.Glu199Gly) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001908504] |
Chr19:2438251 [GRCh38] Chr19:2438249 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1240G>A (p.Val414Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002004365] |
Chr19:2434068 [GRCh38] Chr19:2434066 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1253C>T (p.Thr418Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001924270] |
Chr19:2434055 [GRCh38] Chr19:2434053 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1126G>C (p.Glu376Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001903524] |
Chr19:2434371 [GRCh38] Chr19:2434369 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1528G>C (p.Gly510Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001944577] |
Chr19:2432478 [GRCh38] Chr19:2432476 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.911G>A (p.Arg304His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001936824] |
Chr19:2434858 [GRCh38] Chr19:2434856 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.843C>G (p.Thr281=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001995503] |
Chr19:2435013 [GRCh38] Chr19:2435011 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1041C>A (p.Asp347Glu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002028477] |
Chr19:2434456 [GRCh38] Chr19:2434454 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.29G>T (p.Arg10Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001942450] |
Chr19:2456905 [GRCh38] Chr19:2456903 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1475C>T (p.Ser492Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001943350] |
Chr19:2433833 [GRCh38] Chr19:2433831 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1220G>C (p.Ser407Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001939904] |
Chr19:2434088 [GRCh38] Chr19:2434086 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.805G>A (p.Glu269Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001899787]|not provided [RCV003222355] |
Chr19:2435051 [GRCh38] Chr19:2435049 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1571G>A (p.Arg524His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001961548] |
Chr19:2432435 [GRCh38] Chr19:2432433 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.517C>A (p.Leu173Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001904613] |
Chr19:2438416 [GRCh38] Chr19:2438414 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1006C>T (p.Arg336Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003264225]|Progressive myoclonic epilepsy type 9 [RCV001898717] |
Chr19:2434491 [GRCh38] Chr19:2434489 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1700C>T (p.Ala567Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001943535] |
Chr19:2431793 [GRCh38] Chr19:2431791 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.745C>A (p.Gln249Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001902989] |
Chr19:2435111 [GRCh38] Chr19:2435109 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1202+5G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001916402] |
Chr19:2434290 [GRCh38] Chr19:2434288 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1706G>A (p.Gly569Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001867252] |
Chr19:2431787 [GRCh38] Chr19:2431785 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.713A>T (p.Glu238Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001977968] |
Chr19:2435143 [GRCh38] Chr19:2435141 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1634C>T (p.Thr545Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001898006] |
Chr19:2431859 [GRCh38] Chr19:2431857 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.698C>T (p.Thr233Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003365524]|Progressive myoclonic epilepsy type 9 [RCV001903182] |
Chr19:2435158 [GRCh38] Chr19:2435156 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.284T>G (p.Leu95Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001881147] |
Chr19:2444521 [GRCh38] Chr19:2444519 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1026G>A (p.Met342Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001991447] |
Chr19:2434471 [GRCh38] Chr19:2434469 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1624C>A (p.Pro542Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002010971] |
Chr19:2431869 [GRCh38] Chr19:2431867 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.842C>T (p.Thr281Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001952394] |
Chr19:2435014 [GRCh38] Chr19:2435012 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1420G>A (p.Val474Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002026276] |
Chr19:2433888 [GRCh38] Chr19:2433886 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.733G>A (p.Asp245Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002011160] |
Chr19:2435123 [GRCh38] Chr19:2435121 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1797C>T (p.Gly599=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001882134] |
Chr19:2431572 [GRCh38] Chr19:2431570 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.6C>T (p.Ser2=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001975232] |
Chr19:2456928 [GRCh38] Chr19:2456926 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1167C>T (p.Asn389=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001961550] |
Chr19:2434330 [GRCh38] Chr19:2434328 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.29G>C (p.Arg10Pro) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001951957] |
Chr19:2456905 [GRCh38] Chr19:2456903 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1339A>G (p.Ser447Gly) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001907143] |
Chr19:2433969 [GRCh38] Chr19:2433967 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.743G>A (p.Arg248Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002026107] |
Chr19:2435113 [GRCh38] Chr19:2435111 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.71C>A (p.Pro24Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001975886] |
Chr19:2456863 [GRCh38] Chr19:2456861 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.772C>T (p.Gln258Ter) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001980250] |
Chr19:2435084 [GRCh38] Chr19:2435082 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.302C>T (p.Ala101Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001917208] |
Chr19:2444503 [GRCh38] Chr19:2444501 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.340C>T (p.Arg114Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002014910] |
Chr19:2444465 [GRCh38] Chr19:2444463 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.855+15C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002009878] |
Chr19:2434986 [GRCh38] Chr19:2434984 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.43C>T (p.Pro15Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001918731] |
Chr19:2456891 [GRCh38] Chr19:2456889 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.557A>T (p.Lys186Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001883991] |
Chr19:2438376 [GRCh38] Chr19:2438374 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.940C>A (p.Leu314Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002034035] |
Chr19:2434829 [GRCh38] Chr19:2434827 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.14G>T (p.Ser5Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001935747] |
Chr19:2456920 [GRCh38] Chr19:2456918 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1481A>C (p.Lys494Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001925432] |
Chr19:2433827 [GRCh38] Chr19:2433825 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1413G>A (p.Ser471=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002050447] |
Chr19:2433895 [GRCh38] Chr19:2433893 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.37C>T (p.Arg13Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV001974851] |
Chr19:2456897 [GRCh38] Chr19:2456895 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.694G>A (p.Glu232Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002548981]|Progressive myoclonic epilepsy type 9 [RCV002031140] |
Chr19:2435162 [GRCh38] Chr19:2435160 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.750G>C (p.Gln250His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002146417] |
Chr19:2435106 [GRCh38] Chr19:2435104 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.401+12C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002085583] |
Chr19:2444392 [GRCh38] Chr19:2444390 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.726G>A (p.Val242=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002071401] |
Chr19:2435130 [GRCh38] Chr19:2435128 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1482+12G>C |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002210285] |
Chr19:2433814 [GRCh38] Chr19:2433812 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.249G>A (p.Glu83=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002105467] |
Chr19:2456685 [GRCh38] Chr19:2456683 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.264+15T>C |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002105197] |
Chr19:2456655 [GRCh38] Chr19:2456653 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.982-9C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002186361] |
Chr19:2434524 [GRCh38] Chr19:2434522 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1590+14C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002189017] |
Chr19:2432402 [GRCh38] Chr19:2432400 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.282G>A (p.Ala94=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002104343] |
Chr19:2444523 [GRCh38] Chr19:2444521 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1535A>G (p.Glu512Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003070638]|Progressive myoclonic epilepsy type 9 [RCV002146150] |
Chr19:2432471 [GRCh38] Chr19:2432469 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.856-14C>G |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002148725] |
Chr19:2434927 [GRCh38] Chr19:2434925 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1527G>A (p.Glu509=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002190033] |
Chr19:2432479 [GRCh38] Chr19:2432477 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.666G>A (p.Arg222=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002107607] |
Chr19:2438181 [GRCh38] Chr19:2438179 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.558+19G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002125824] |
Chr19:2438356 [GRCh38] Chr19:2438354 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1203-17C>G |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002086307] |
Chr19:2434122 [GRCh38] Chr19:2434120 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.150G>C (p.Leu50=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002167220] |
Chr19:2456784 [GRCh38] Chr19:2456782 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.685-5C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002106307] |
Chr19:2435176 [GRCh38] Chr19:2435174 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.819C>T (p.Leu273=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002089684] |
Chr19:2435037 [GRCh38] Chr19:2435035 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1482+11A>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002210430] |
Chr19:2433815 [GRCh38] Chr19:2433813 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.264+9del |
deletion |
Progressive myoclonic epilepsy type 9 [RCV002174748] |
Chr19:2456661 [GRCh38] Chr19:2456659 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.696G>A (p.Glu232=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002174766] |
Chr19:2435160 [GRCh38] Chr19:2435158 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1482+17G>C |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002173716] |
Chr19:2433809 [GRCh38] Chr19:2433807 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1822-17T>C |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002116023] |
Chr19:2430969 [GRCh38] Chr19:2430967 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.981+20C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002078142] |
Chr19:2434768 [GRCh38] Chr19:2434766 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.558+18C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002211957] |
Chr19:2438357 [GRCh38] Chr19:2438355 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.504C>T (p.Ser168=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002115308] |
Chr19:2438429 [GRCh38] Chr19:2438427 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1350C>T (p.Ser450=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002188630] |
Chr19:2433958 [GRCh38] Chr19:2433956 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1852T>C (p.Tyr618His) |
single nucleotide variant |
Inborn genetic diseases [RCV003161670]|Progressive myoclonic epilepsy type 9 [RCV002193778] |
Chr19:2430922 [GRCh38] Chr19:2430920 [GRCh37] Chr19:19p13.3 |
likely benign|uncertain significance |
NM_032737.4(LMNB2):c.1749G>A (p.Met583Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002087219] |
Chr19:2431620 [GRCh38] Chr19:2431618 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1482+16G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002216054] |
Chr19:2433810 [GRCh38] Chr19:2433808 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1737G>C (p.Lys579Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002195437] |
Chr19:2431632 [GRCh38] Chr19:2431630 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.309C>T (p.Ala103=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002197576] |
Chr19:2444496 [GRCh38] Chr19:2444494 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.555C>T (p.Ala185=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002170101] |
Chr19:2438378 [GRCh38] Chr19:2438376 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.856-10C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002114261] |
Chr19:2434923 [GRCh38] Chr19:2434921 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1483-20G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002197612] |
Chr19:2432543 [GRCh38] Chr19:2432541 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1202+4C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002188314] |
Chr19:2434291 [GRCh38] Chr19:2434289 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1629C>G (p.Pro543=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002111095] |
Chr19:2431864 [GRCh38] Chr19:2431862 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.381G>A (p.Glu127=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002095432] |
Chr19:2444424 [GRCh38] Chr19:2444422 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.597G>A (p.Glu199=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002130840] |
Chr19:2438250 [GRCh38] Chr19:2438248 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1793T>C (p.Phe598Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002107142] |
Chr19:2431576 [GRCh38] Chr19:2431574 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.580G>C (p.Ala194Pro) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002114179] |
Chr19:2438267 [GRCh38] Chr19:2438265 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1482+15C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002116039] |
Chr19:2433811 [GRCh38] Chr19:2433809 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.981+15G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002215671] |
Chr19:2434773 [GRCh38] Chr19:2434771 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.348G>A (p.Arg116=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002171973] |
Chr19:2444457 [GRCh38] Chr19:2444455 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1483-11G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002116058] |
Chr19:2432534 [GRCh38] Chr19:2432532 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1483-7C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002080534] |
Chr19:2432530 [GRCh38] Chr19:2432528 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.684+15T>G |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002174630] |
Chr19:2438148 [GRCh38] Chr19:2438146 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.559-7C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002195844] |
Chr19:2438295 [GRCh38] Chr19:2438293 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1710+14G>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002217995] |
Chr19:2431769 [GRCh38] Chr19:2431767 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.855+14G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002203437] |
Chr19:2434987 [GRCh38] Chr19:2434985 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1483-12C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002100129] |
Chr19:2432535 [GRCh38] Chr19:2432533 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.558+20_558+24del |
deletion |
Progressive myoclonic epilepsy type 9 [RCV002184539] |
Chr19:2438351..2438355 [GRCh38] Chr19:2438349..2438353 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.855+16G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002163451] |
Chr19:2434985 [GRCh38] Chr19:2434983 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1821+13T>C |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002163884] |
Chr19:2431535 [GRCh38] Chr19:2431533 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.807G>C (p.Glu269Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002162718] |
Chr19:2435049 [GRCh38] Chr19:2435047 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.856-17C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002121251] |
Chr19:2434930 [GRCh38] Chr19:2434928 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1710+7G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002097985] |
Chr19:2431776 [GRCh38] Chr19:2431774 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1482+20C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002122917] |
Chr19:2433806 [GRCh38] Chr19:2433804 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.982-12C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002140622] |
Chr19:2434527 [GRCh38] Chr19:2434525 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.10C>T (p.Pro4Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002218767] |
Chr19:2456924 [GRCh38] Chr19:2456922 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1203-16C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002140769] |
Chr19:2434121 [GRCh38] Chr19:2434119 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1612G>C (p.Val538Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002198052] |
Chr19:2431881 [GRCh38] Chr19:2431879 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1083G>A (p.Thr361=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002103625] |
Chr19:2434414 [GRCh38] Chr19:2434412 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1341C>T (p.Ser447=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002102253] |
Chr19:2433967 [GRCh38] Chr19:2433965 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1607C>T (p.Ala536Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002118257] |
Chr19:2431886 [GRCh38] Chr19:2431884 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.22C>T (p.Arg8Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002119597] |
Chr19:2456912 [GRCh38] Chr19:2456910 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1203-17_1203-14del |
microsatellite |
Progressive myoclonic epilepsy type 9 [RCV002198416] |
Chr19:2434119..2434122 [GRCh38] Chr19:2434117..2434120 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.559-20C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002219791] |
Chr19:2438308 [GRCh38] Chr19:2438306 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.429G>C (p.Thr143=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002217893] |
Chr19:2438504 [GRCh38] Chr19:2438502 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.618G>A (p.Val206=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002161065] |
Chr19:2438229 [GRCh38] Chr19:2438227 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.429G>A (p.Thr143=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002219978] |
Chr19:2438504 [GRCh38] Chr19:2438502 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.222C>T (p.Leu74=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002177132] |
Chr19:2456712 [GRCh38] Chr19:2456710 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.942G>A (p.Leu314=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002182730] |
Chr19:2434827 [GRCh38] Chr19:2434825 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.801C>T (p.His267=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003110742] |
Chr19:2435055 [GRCh38] Chr19:2435053 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.14G>A (p.Ser5Asn) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003110781] |
Chr19:2456920 [GRCh38] Chr19:2456918 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NC_000019.9:g.(?_589946)_(5696788_?)dup |
duplication |
not provided [RCV003113597] |
Chr19:589946..5696788 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NC_000019.9:g.(?_1456055)_(2456931_?)dup |
duplication |
Progressive myoclonic epilepsy type 9 [RCV003122897] |
Chr19:1456055..2456931 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3(chr19:2376834-2515283)x1 |
copy number loss |
not provided [RCV002474740] |
Chr19:2376834..2515283 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1496G>T (p.Gly499Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002302247] |
Chr19:2432510 [GRCh38] Chr19:2432508 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1711-6G>C |
single nucleotide variant |
not provided [RCV002475086] |
Chr19:2431664 [GRCh38] Chr19:2431662 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NC_000019.9:g.(?_1206913)_(3771740_?)dup |
duplication |
not provided [RCV003154903] |
Chr19:1206913..3771740 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1168G>A (p.Ala390Thr) |
single nucleotide variant |
not provided [RCV003131496] |
Chr19:2434329 [GRCh38] Chr19:2434327 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1016A>T (p.Glu339Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002304888] |
Chr19:2434481 [GRCh38] Chr19:2434479 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.687G>T (p.Glu229Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002300520] |
Chr19:2435169 [GRCh38] Chr19:2435167 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1847G>T (p.Gly616Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002815612] |
Chr19:2430927 [GRCh38] Chr19:2430925 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.532G>A (p.Ala178Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002945215] |
Chr19:2438401 [GRCh38] Chr19:2438399 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1336G>A (p.Gly446Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002726598] |
Chr19:2433972 [GRCh38] Chr19:2433970 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.100A>C (p.Thr34Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002728281] |
Chr19:2456834 [GRCh38] Chr19:2456832 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1377C>T (p.Ser459=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002948162] |
Chr19:2433931 [GRCh38] Chr19:2433929 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1055T>A (p.Met352Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002618169] |
Chr19:2434442 [GRCh38] Chr19:2434440 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1545C>T (p.Tyr515=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003077032] |
Chr19:2432461 [GRCh38] Chr19:2432459 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1444G>A (p.Glu482Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003074625] |
Chr19:2433864 [GRCh38] Chr19:2433862 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1677C>G (p.Ser559Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003033558] |
Chr19:2431816 [GRCh38] Chr19:2431814 [GRCh37] Chr19:19p13.3 |
benign |
NM_032737.4(LMNB2):c.1585G>A (p.Val529Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003033863] |
Chr19:2432421 [GRCh38] Chr19:2432419 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1337G>A (p.Gly446Asp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003076457] |
Chr19:2433971 [GRCh38] Chr19:2433969 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1821+15C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002842311] |
Chr19:2431533 [GRCh38] Chr19:2431531 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.981+14C>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002843172] |
Chr19:2434774 [GRCh38] Chr19:2434772 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1252A>C (p.Thr418Pro) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003081484] |
Chr19:2434056 [GRCh38] Chr19:2434054 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.481G>A (p.Val161Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002914393] |
Chr19:2438452 [GRCh38] Chr19:2438450 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1572C>T (p.Arg524=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002640296] |
Chr19:2432434 [GRCh38] Chr19:2432432 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1744G>A (p.Val582Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002953404]|Progressive myoclonic epilepsy type 9 [RCV002953405] |
Chr19:2431625 [GRCh38] Chr19:2431623 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1693G>C (p.Val565Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003081346] |
Chr19:2431800 [GRCh38] Chr19:2431798 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.931C>T (p.Arg311Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002590461] |
Chr19:2434838 [GRCh38] Chr19:2434836 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1266C>T (p.Ser422=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002909293] |
Chr19:2434042 [GRCh38] Chr19:2434040 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1476G>A (p.Ser492=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002569588] |
Chr19:2433832 [GRCh38] Chr19:2433830 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1437C>T (p.Ile479=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002591760] |
Chr19:2433871 [GRCh38] Chr19:2433869 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.281C>G (p.Ala94Gly) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002619762] |
Chr19:2444524 [GRCh38] Chr19:2444522 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1822-20TCCT[3] |
microsatellite |
Progressive myoclonic epilepsy type 9 [RCV003077291] |
Chr19:2430957..2430960 [GRCh38] Chr19:2430955..2430958 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.27T>C (p.Arg9=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002592741] |
Chr19:2456907 [GRCh38] Chr19:2456905 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.814C>T (p.Arg272Trp) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003085945] |
Chr19:2435042 [GRCh38] Chr19:2435040 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.645G>T (p.Leu215=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002625802] |
Chr19:2438202 [GRCh38] Chr19:2438200 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.739A>C (p.Ser247Arg) |
single nucleotide variant |
LMNB2-related condition [RCV003404040]|Progressive myoclonic epilepsy type 9 [RCV003059065] |
Chr19:2435117 [GRCh38] Chr19:2435115 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1582A>C (p.Met528Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002667367] |
Chr19:2432424 [GRCh38] Chr19:2432422 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1591-8G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003085853] |
Chr19:2431910 [GRCh38] Chr19:2431908 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.701G>A (p.Arg234Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002766063] |
Chr19:2435155 [GRCh38] Chr19:2435153 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.156G>A (p.Glu52=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002917813] |
Chr19:2456778 [GRCh38] Chr19:2456776 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.477C>G (p.Ser159Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003081975] |
Chr19:2438456 [GRCh38] Chr19:2438454 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.437A>G (p.Gln146Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003006126] |
Chr19:2438496 [GRCh38] Chr19:2438494 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1578C>T (p.Gly526=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002928502] |
Chr19:2432428 [GRCh38] Chr19:2432426 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1267G>T (p.Gly423Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002788415] |
Chr19:2434041 [GRCh38] Chr19:2434039 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.716G>A (p.Arg239Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002595636] |
Chr19:2435140 [GRCh38] Chr19:2435138 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.218G>C (p.Arg73Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002929587] |
Chr19:2456716 [GRCh38] Chr19:2456714 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1302T>A (p.Ser434Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002930806] |
Chr19:2434006 [GRCh38] Chr19:2434004 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.568G>C (p.Gly190Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003091654] |
Chr19:2438279 [GRCh38] Chr19:2438277 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.707G>A (p.Arg236Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003091925] |
Chr19:2435149 [GRCh38] Chr19:2435147 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.559-14C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002631749] |
Chr19:2438302 [GRCh38] Chr19:2438300 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1285G>C (p.Gly429Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002651412] |
Chr19:2434023 [GRCh38] Chr19:2434021 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.125C>T (p.Ser42Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002746919] |
Chr19:2456809 [GRCh38] Chr19:2456807 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1551C>T (p.Phe517=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003087423] |
Chr19:2432455 [GRCh38] Chr19:2432453 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.856-12G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002648100] |
Chr19:2434925 [GRCh38] Chr19:2434923 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1667C>T (p.Thr556Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002668555] |
Chr19:2431826 [GRCh38] Chr19:2431824 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1404C>G (p.Ala468=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003060480] |
Chr19:2433904 [GRCh38] Chr19:2433902 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.798G>A (p.Gln266=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003088497] |
Chr19:2435058 [GRCh38] Chr19:2435056 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1711-16G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002715814] |
Chr19:2431674 [GRCh38] Chr19:2431672 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1729G>A (p.Val577Met) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003026438] |
Chr19:2431640 [GRCh38] Chr19:2431638 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1037G>A (p.Arg346Gln) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003009193] |
Chr19:2434460 [GRCh38] Chr19:2434458 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1446G>A (p.Glu482=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002581580] |
Chr19:2433862 [GRCh38] Chr19:2433860 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1361C>G (p.Thr454Arg) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002942987] |
Chr19:2433947 [GRCh38] Chr19:2433945 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.310C>G (p.Arg104Gly) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002814506] |
Chr19:2444495 [GRCh38] Chr19:2444493 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.559-19G>A |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002633170] |
Chr19:2438307 [GRCh38] Chr19:2438305 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.66C>T (p.Ala22=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002603056] |
Chr19:2456868 [GRCh38] Chr19:2456866 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1590G>A (p.Thr530=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002942239] |
Chr19:2432416 [GRCh38] Chr19:2432414 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1409C>T (p.Ala470Val) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002635011] |
Chr19:2433899 [GRCh38] Chr19:2433897 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.912C>T (p.Arg304=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002610810] |
Chr19:2434857 [GRCh38] Chr19:2434855 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.260G>A (p.Arg87His) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003071649] |
Chr19:2456674 [GRCh38] Chr19:2456672 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1365C>G (p.Gly455=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003051352]|not provided [RCV003410061] |
Chr19:2433943 [GRCh38] Chr19:2433941 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.391G>A (p.Val131Ile) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002942905] |
Chr19:2444414 [GRCh38] Chr19:2444412 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.684+14C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV002612382] |
Chr19:2438149 [GRCh38] Chr19:2438147 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.18_39dup (p.Arg14fs) |
duplication |
not provided [RCV003131495] |
Chr19:2456894..2456895 [GRCh38] Chr19:2456892..2456893 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1163T>G (p.Ile388Ser) |
single nucleotide variant |
Lipodystrophy, partial, acquired, susceptibility to [RCV003326322] |
Chr19:2434334 [GRCh38] Chr19:2434332 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.976A>G (p.Lys326Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003362311] |
Chr19:2434793 [GRCh38] Chr19:2434791 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.859G>A (p.Asp287Asn) |
single nucleotide variant |
Microcephaly 27, primary, autosomal dominant [RCV003333533] |
Chr19:2434910 [GRCh38] Chr19:2434908 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 |
copy number gain |
not provided [RCV003485190] |
Chr19:260912..7246777 [GRCh37] Chr19:19p13.3-13.2 |
pathogenic |
NM_032737.4(LMNB2):c.16C>G (p.Pro6Ala) |
single nucleotide variant |
not provided [RCV003421726] |
Chr19:2456918 [GRCh38] Chr19:2456916 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.236C>T (p.Ser79Leu) |
single nucleotide variant |
Neurodevelopmental disorder [RCV003389197] |
Chr19:2456698 [GRCh38] Chr19:2456696 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1648G>C (p.Gly550Arg) |
single nucleotide variant |
LMNB2-related condition [RCV003411985] |
Chr19:2431845 [GRCh38] Chr19:2431843 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.119G>T (p.Arg40Leu) |
single nucleotide variant |
Neurodevelopmental disorder [RCV003389196] |
Chr19:2456815 [GRCh38] Chr19:2456813 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1077G>A (p.Glu359=) |
single nucleotide variant |
not provided [RCV003457276] |
Chr19:2434420 [GRCh38] Chr19:2434418 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.669G>T (p.Lys223Asn) |
single nucleotide variant |
not provided [RCV003457277] |
Chr19:2438178 [GRCh38] Chr19:2438176 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1859T>C (p.Met620Thr) |
single nucleotide variant |
not provided [RCV003413521] |
Chr19:2430915 [GRCh38] Chr19:2430913 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.395_396delinsTA (p.Asn132Ile) |
indel |
Progressive myoclonic epilepsy type 9 [RCV003789628] |
Chr19:2444409..2444410 [GRCh38] Chr19:2444407..2444408 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.293C>T (p.Ser98Leu) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003789722] |
Chr19:2444512 [GRCh38] Chr19:2444510 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.417G>A (p.Glu139=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003786869] |
Chr19:2438516 [GRCh38] Chr19:2438514 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1606G>A (p.Ala536Thr) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003788484] |
Chr19:2431887 [GRCh38] Chr19:2431885 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1214C>T (p.Ser405Phe) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003781152] |
Chr19:2434094 [GRCh38] Chr19:2434092 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1429G>A (p.Glu477Lys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003787986] |
Chr19:2433879 [GRCh38] Chr19:2433877 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.40A>G (p.Arg14Gly) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003789422] |
Chr19:2456894 [GRCh38] Chr19:2456892 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1581G>A (p.Gln527=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003789493] |
Chr19:2432425 [GRCh38] Chr19:2432423 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1711-19C>T |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003790718] |
Chr19:2431677 [GRCh38] Chr19:2431675 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.568G>A (p.Gly190Ser) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003789755] |
Chr19:2438279 [GRCh38] Chr19:2438277 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_032737.4(LMNB2):c.1116C>T (p.Ala372=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003780735] |
Chr19:2434381 [GRCh38] Chr19:2434379 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1821+15C>G |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003781129] |
Chr19:2431533 [GRCh38] Chr19:2431531 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1554G>A (p.Thr518=) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003788740] |
Chr19:2432452 [GRCh38] Chr19:2432450 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.1822-10C>G |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003788355] |
Chr19:2430962 [GRCh38] Chr19:2430960 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_032737.4(LMNB2):c.631C>T (p.Arg211Cys) |
single nucleotide variant |
Progressive myoclonic epilepsy type 9 [RCV003788173] |
Chr19:2438216 [GRCh38] Chr19:2438214 [GRCh37] Chr19:19p13.3 |
uncertain significance |