LMNB1, EX6-8 DEL |
deletion |
Microcephaly 26, primary, autosomal dominant [RCV001292577] |
Chr5:5q23.2 |
pathogenic |
NC_000005.9:g.(?_126102443)_(126199753_?)dup |
duplication |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000015563] |
Chr5:126102443..126199753 [GRCh37] Chr5:5q23.2 |
pathogenic |
GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1 |
copy number loss |
See cases [RCV000052108] |
Chr5:120739630..126823984 [GRCh38] Chr5:120075325..126159676 [GRCh37] Chr5:120103224..126187575 [NCBI36] Chr5:5q23.1-23.2 |
pathogenic |
GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 |
copy number loss |
See cases [RCV000052109] |
Chr5:126438406..132873967 [GRCh38] Chr5:125774098..132209659 [GRCh37] Chr5:125801997..132237558 [NCBI36] Chr5:5q23.2-31.1 |
pathogenic |
GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1 |
copy number loss |
See cases [RCV000052110] |
Chr5:126458947..128537986 [GRCh38] Chr5:125794639..127873679 [GRCh37] Chr5:125822538..127901578 [NCBI36] Chr5:5q23.2-23.3 |
pathogenic |
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 |
copy number loss |
See cases [RCV000053524] |
Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2 |
pathogenic |
GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 |
copy number loss |
See cases [RCV000053525] |
Chr5:116677122..132686163 [GRCh38] Chr5:116012818..132021855 [GRCh37] Chr5:116040717..132049754 [NCBI36] Chr5:5q23.1-31.1 |
pathogenic |
NM_005573.4(LMNB1):c.*18C>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000298597]|not provided [RCV000057046] |
Chr5:126836282 [GRCh38] Chr5:126171974 [GRCh37] Chr5:5q23.2 |
benign|not provided |
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000299258]|not provided [RCV000057047]|not specified [RCV001795046] |
Chr5:126825998 [GRCh38] Chr5:126161690 [GRCh37] Chr5:5q23.2 |
benign|likely benign|not provided |
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000386109]|not provided [RCV000057048] |
Chr5:126804830 [GRCh38] Chr5:126140522 [GRCh37] Chr5:5q23.2 |
benign|not provided |
NM_005573.4(LMNB1):c.852T>C (p.Ser284=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000345073]|not provided [RCV000057049] |
Chr5:126811811 [GRCh38] Chr5:126147503 [GRCh37] Chr5:5q23.2 |
benign|likely benign|not provided |
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000294151]|not provided [RCV001512219]|not specified [RCV000117493] |
Chr5:126804848 [GRCh38] Chr5:126140540 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 |
copy number loss |
See cases [RCV000135549] |
Chr5:111463016..127193038 [GRCh38] Chr5:110798714..126528730 [GRCh37] Chr5:110826613..126556629 [NCBI36] Chr5:5q22.1-23.2 |
pathogenic |
GRCh38/hg38 5q23.2(chr5:126786744-126801470)x3 |
copy number gain |
See cases [RCV000136009] |
Chr5:126786744..126801470 [GRCh38] Chr5:126122436..126137162 [GRCh37] Chr5:126150335..126165061 [NCBI36] Chr5:5q23.2 |
uncertain significance |
GRCh38/hg38 5q23.2(chr5:126657759-126923623)x3 |
copy number gain |
See cases [RCV000136926] |
Chr5:126657759..126923623 [GRCh38] Chr5:125993451..126259315 [GRCh37] Chr5:126021350..126287214 [NCBI36] Chr5:5q23.2 |
pathogenic|uncertain significance |
GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1 |
copy number loss |
See cases [RCV000136633] |
Chr5:122479268..126833168 [GRCh38] Chr5:121814963..126168860 [GRCh37] Chr5:121842862..126196759 [NCBI36] Chr5:5q23.2 |
uncertain significance |
GRCh38/hg38 5q23.2(chr5:125372857-126839014)x3 |
copy number gain |
See cases [RCV000137993] |
Chr5:125372857..126839014 [GRCh38] Chr5:124708550..126174706 [GRCh37] Chr5:124736449..126202605 [NCBI36] Chr5:5q23.2 |
likely benign|uncertain significance |
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 |
copy number loss |
See cases [RCV000139235] |
Chr5:110687442..130103838 [GRCh38] Chr5:110023143..129439531 [GRCh37] Chr5:110051042..129467430 [NCBI36] Chr5:5q22.1-23.3 |
pathogenic|uncertain significance |
GRCh38/hg38 5q23.2(chr5:126786744-126797308)x1 |
copy number loss |
See cases [RCV000139264] |
Chr5:126786744..126797308 [GRCh38] Chr5:126122436..126133000 [GRCh37] Chr5:126150335..126160899 [NCBI36] Chr5:5q23.2 |
likely benign |
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 |
copy number loss |
See cases [RCV000139893] |
Chr5:90374606..128076423 [GRCh38] Chr5:89670423..127412115 [GRCh37] Chr5:89706179..127440014 [NCBI36] Chr5:5q14.3-23.3 |
pathogenic |
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 |
copy number loss |
See cases [RCV000143746] |
Chr5:91411708..131319563 [GRCh38] Chr5:90707525..130655256 [GRCh37] Chr5:90743281..130683155 [NCBI36] Chr5:5q14.3-31.1 |
pathogenic |
NM_005573.3(LMNB1):c.-491T>C |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000264862] |
Chr5:126777018 [GRCh38] Chr5:126112710 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.*15T>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000259722] |
Chr5:126836279 [GRCh38] Chr5:126171971 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.4(LMNB1):c.-314C>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000263750] |
Chr5:126777195 [GRCh38] Chr5:126112887 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.3(LMNB1):c.-708G>C |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000280096] |
Chr5:126776801 [GRCh38] Chr5:126112493 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.*629G>A |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000271365] |
Chr5:126836893 [GRCh38] Chr5:126172585 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.*239C>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000277393] |
Chr5:126836503 [GRCh38] Chr5:126172195 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.3(LMNB1):c.-621T>C |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000397765] |
Chr5:126776888 [GRCh38] Chr5:126112580 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.279C>T (p.Leu93=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000333700]|not provided [RCV000970700] |
Chr5:126777787 [GRCh38] Chr5:126113479 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.4(LMNB1):c.-298G>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000316347] |
Chr5:126777211 [GRCh38] Chr5:126112903 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000356354]|not provided [RCV001520837] |
Chr5:126826056 [GRCh38] Chr5:126161748 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.3(LMNB1):c.-577C>T |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000401968] |
Chr5:126776932 [GRCh38] Chr5:126112624 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000791125]|not provided [RCV001795969] |
Chr5:126810213 [GRCh38] Chr5:126145905 [GRCh37] Chr5:5q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005573.3(LMNB1):c.-552G>A |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000304925] |
Chr5:126776957 [GRCh38] Chr5:126112649 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.*691A>G |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000382569] |
Chr5:126836955 [GRCh38] Chr5:126172647 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000305501] |
Chr5:126820939 [GRCh38] Chr5:126156631 [GRCh37] Chr5:5q23.2 |
likely benign|uncertain significance |
NM_005573.4(LMNB1):c.672A>G (p.Glu224=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000384885] |
Chr5:126810209 [GRCh38] Chr5:126145901 [GRCh37] Chr5:5q23.2 |
likely benign|uncertain significance |
NM_005573.3(LMNB1):c.-583G>C |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000363219]|not provided [RCV003422335] |
Chr5:126776926 [GRCh38] Chr5:126112618 [GRCh37] Chr5:5q23.2 |
benign|uncertain significance |
NM_005573.4(LMNB1):c.*518T>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000386736] |
Chr5:126836782 [GRCh38] Chr5:126172474 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.3(LMNB1):c.-595G>A |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000308589] |
Chr5:126776914 [GRCh38] Chr5:126112606 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.642+10T>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000346610]|not provided [RCV000963162] |
Chr5:126805706 [GRCh38] Chr5:126141398 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.4(LMNB1):c.141C>T (p.Ile47=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000295130]|not provided [RCV002058505] |
Chr5:126777649 [GRCh38] Chr5:126113341 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.4(LMNB1):c.*629G>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000328799] |
Chr5:126836893 [GRCh38] Chr5:126172585 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.*43T>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000369546]|not provided [RCV001683395] |
Chr5:126836307 [GRCh38] Chr5:126171999 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.*503A>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000329948] |
Chr5:126836767 [GRCh38] Chr5:126172459 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.3(LMNB1):c.-635T>C |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000350508] |
Chr5:126776874 [GRCh38] Chr5:126112566 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1492-11G>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000395587]|not provided [RCV002058507] |
Chr5:126825977 [GRCh38] Chr5:126161669 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
NM_005573.3(LMNB1):c.-540G>A |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000361970] |
Chr5:126776969 [GRCh38] Chr5:126112661 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.3(LMNB1):c.-688G>A |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000295564] |
Chr5:126776821 [GRCh38] Chr5:126112513 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.3(LMNB1):c.-705G>T |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000335252] |
Chr5:126776804 [GRCh38] Chr5:126112496 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.3(LMNB1):c.-894C>T |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000367531] |
Chr5:126776615 [GRCh38] Chr5:126112307 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.3(LMNB1):c.-437C>G |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000322264] |
Chr5:126777072 [GRCh38] Chr5:126112764 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1387-3T>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000339403] |
Chr5:126822778 [GRCh38] Chr5:126158470 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.-159C>G |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000373329] |
Chr5:126777350 [GRCh38] Chr5:126113042 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.3(LMNB1):c.-382C>G |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000356167] |
Chr5:126777127 [GRCh38] Chr5:126112819 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1023C>T (p.Asp341=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000395495]|not provided [RCV002058506] |
Chr5:126819005 [GRCh38] Chr5:126154697 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.3(LMNB1):c.-701C>T |
single nucleotide variant |
Leukodystrophy, Adult-Onset [RCV000397776] |
Chr5:126776808 [GRCh38] Chr5:126112500 [GRCh37] Chr5:5q23.2 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q23.2(chr5:126002101-126341594)x3 |
copy number gain |
See cases [RCV000511066] |
Chr5:126002101..126341594 [GRCh37] Chr5:5q23.2 |
pathogenic |
NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
GRCh37/hg19 5q23.2(chr5:126002101-126351612)x3 |
copy number gain |
See cases [RCV000511003] |
Chr5:126002101..126351612 [GRCh37] Chr5:5q23.2 |
pathogenic |
NM_005573.4(LMNB1):c.232C>T (p.Leu78Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003266551] |
Chr5:126777740 [GRCh38] Chr5:126113432 [GRCh37] Chr5:5q23.2 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_005573.4(LMNB1):c.1492-51G>A |
single nucleotide variant |
not provided [RCV001666904] |
Chr5:126825937 [GRCh38] Chr5:126161629 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1719+72del |
deletion |
not provided [RCV001666923] |
Chr5:126832872 [GRCh38] Chr5:126168564 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.279C>G (p.Leu93=) |
single nucleotide variant |
not provided [RCV000916749] |
Chr5:126777787 [GRCh38] Chr5:126113479 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.813+187A>G |
single nucleotide variant |
not provided [RCV001648774] |
Chr5:126810537 [GRCh38] Chr5:126146229 [GRCh37] Chr5:5q23.2 |
benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_005573.4(LMNB1):c.1041G>A (p.Ala347=) |
single nucleotide variant |
not provided [RCV000927489] |
Chr5:126819023 [GRCh38] Chr5:126154715 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.359+7G>A |
single nucleotide variant |
not provided [RCV000924293] |
Chr5:126777874 [GRCh38] Chr5:126113566 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.642+4_642+7dup |
duplication |
not provided [RCV000970701] |
Chr5:126805697..126805698 [GRCh38] Chr5:126141389..126141390 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.4(LMNB1):c.294C>G (p.Arg98=) |
single nucleotide variant |
not provided [RCV000895961] |
Chr5:126777802 [GRCh38] Chr5:126113494 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.359+3G>A |
single nucleotide variant |
not provided [RCV000828034] |
Chr5:126777870 [GRCh38] Chr5:126113562 [GRCh37] Chr5:5q23.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_005573.4(LMNB1):c.651C>T (p.Asn217=) |
single nucleotide variant |
not provided [RCV000982145] |
Chr5:126810188 [GRCh38] Chr5:126145880 [GRCh37] Chr5:5q23.2 |
likely benign |
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 |
copy number gain |
not provided [RCV000849289] |
Chr5:89949118..129317455 [GRCh37] Chr5:5q14.3-23.3 |
pathogenic |
NM_005573.4(LMNB1):c.*284T>G |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001154646]|not provided [RCV002512139] |
Chr5:126836548 [GRCh38] Chr5:126172240 [GRCh37] Chr5:5q23.2 |
likely benign|uncertain significance |
NM_005573.4(LMNB1):c.*631G>A |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155479] |
Chr5:126836895 [GRCh38] Chr5:126172587 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.*634A>G |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155480] |
Chr5:126836898 [GRCh38] Chr5:126172590 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.266C>T (p.Ala89Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003239868] |
Chr5:126777774 [GRCh38] Chr5:126113466 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1612-236G>C |
single nucleotide variant |
not provided [RCV001599096] |
Chr5:126832458 [GRCh38] Chr5:126168150 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.360-118A>G |
single nucleotide variant |
not provided [RCV001599154] |
Chr5:126804658 [GRCh38] Chr5:126140350 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.643-101A>G |
single nucleotide variant |
not provided [RCV001636485] |
Chr5:126810079 [GRCh38] Chr5:126145771 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1161-57del |
deletion |
not provided [RCV001654759] |
Chr5:126820840 [GRCh38] Chr5:126156532 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.13A>G (p.Thr5Ala) |
single nucleotide variant |
not provided [RCV001547721] |
Chr5:126777521 [GRCh38] Chr5:126113213 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.165G>A (p.Thr55=) |
single nucleotide variant |
not provided [RCV000961649] |
Chr5:126777673 [GRCh38] Chr5:126113365 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1209A>G (p.Ala403=) |
single nucleotide variant |
not provided [RCV000907879] |
Chr5:126820958 [GRCh38] Chr5:126156650 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.813+8C>G |
single nucleotide variant |
not provided [RCV000977400] |
Chr5:126810358 [GRCh38] Chr5:126146050 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.-76G>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155358] |
Chr5:126777433 [GRCh38] Chr5:126113125 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.775C>T (p.Leu259=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157048] |
Chr5:126810312 [GRCh38] Chr5:126146004 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157049] |
Chr5:126811812 [GRCh38] Chr5:126147504 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1364G>T (p.Arg455Leu) |
single nucleotide variant |
not provided [RCV001556236] |
Chr5:126821113 [GRCh38] Chr5:126156805 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NR_134485.1(LMNB1-DT):n.10A>G |
single nucleotide variant |
not provided [RCV001617696] |
Chr5:126776477 [GRCh38] Chr5:126112169 [GRCh37] Chr5:5q23.2 |
benign |
NR_134485.1(LMNB1-DT):n.50G>C |
single nucleotide variant |
not provided [RCV001638418] |
Chr5:126776437 [GRCh38] Chr5:126112129 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp) |
single nucleotide variant |
Microcephaly 26, primary, autosomal dominant [RCV001292579]|Syndrome with microcephaly as major feature [RCV001254642]|not provided [RCV003148939] |
Chr5:126777632 [GRCh38] Chr5:126113324 [GRCh37] Chr5:5q23.2 |
pathogenic |
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157047] |
Chr5:126810237 [GRCh38] Chr5:126145929 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157051] |
Chr5:126818992 [GRCh38] Chr5:126154684 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.60G>A (p.Thr20=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155359]|not provided [RCV002070906] |
Chr5:126777568 [GRCh38] Chr5:126113260 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.*301T>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155478] |
Chr5:126836565 [GRCh38] Chr5:126172257 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.*640G>A |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155481] |
Chr5:126836904 [GRCh38] Chr5:126172596 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.*189T>G |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001154644] |
Chr5:126836453 [GRCh38] Chr5:126172145 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1611+163T>G |
single nucleotide variant |
not provided [RCV001670612] |
Chr5:126826270 [GRCh38] Chr5:126161962 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.*270T>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001154645] |
Chr5:126836534 [GRCh38] Chr5:126172226 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001198634] |
Chr5:126804827 [GRCh38] Chr5:126140519 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.*54A>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001154643]|not provided [RCV002264206] |
Chr5:126836318 [GRCh38] Chr5:126172010 [GRCh37] Chr5:5q23.2 |
benign|uncertain significance |
NM_005573.4(LMNB1):c.987T>C (p.Ala329=) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157050] |
Chr5:126818969 [GRCh38] Chr5:126154661 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1091T>C (p.Leu364Pro) |
single nucleotide variant |
Microcephaly [RCV001252943] |
Chr5:126819073 [GRCh38] Chr5:126154765 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.939+2362_1491+560del |
deletion |
Microcephaly 26, primary, autosomal dominant [RCV002287475]|Syndrome with microcephaly as major feature [RCV001254644] |
Chr5:126814259..126823444 [GRCh38] Chr5:126149951..126159136 [GRCh37] Chr5:5q23.2 |
pathogenic |
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001253966] |
Chr5:126820927 [GRCh38] Chr5:126156619 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002558702]|Microcephaly 26, primary, autosomal dominant [RCV001292578]|Syndrome with microcephaly as major feature [RCV001254641] |
Chr5:126777605 [GRCh38] Chr5:126113297 [GRCh37] Chr5:5q23.2 |
pathogenic |
NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly) |
single nucleotide variant |
Microcephaly 26, primary, autosomal dominant [RCV001292576]|Syndrome with microcephaly as major feature [RCV001254640] |
Chr5:126804871 [GRCh38] Chr5:126140563 [GRCh37] Chr5:5q23.2 |
pathogenic |
NM_005573.4(LMNB1):c.939+1G>A |
single nucleotide variant |
Microcephaly 26, primary, autosomal dominant [RCV001292580]|Syndrome with microcephaly as major feature [RCV001254643] |
Chr5:126811899 [GRCh38] Chr5:126147591 [GRCh37] Chr5:5q23.2 |
pathogenic |
NM_005573.4(LMNB1):c.1161-6A>G |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001253965] |
Chr5:126820904 [GRCh38] Chr5:126156596 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.269G>C (p.Arg90Pro) |
single nucleotide variant |
Microcephaly 26, primary, autosomal dominant [RCV001292581] |
Chr5:126777777 [GRCh38] Chr5:126113469 [GRCh37] Chr5:5q23.2 |
pathogenic |
NM_005573.4(LMNB1):c.360-8T>C |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001334424] |
Chr5:126804768 [GRCh38] Chr5:126140460 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NR_134485.1(LMNB1-DT):n.38C>T |
single nucleotide variant |
not provided [RCV001539126] |
Chr5:126776449 [GRCh38] Chr5:126112141 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.843G>T (p.Met281Ile) |
single nucleotide variant |
not provided [RCV001349585] |
Chr5:126811802 [GRCh38] Chr5:126147494 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.821A>G (p.Asn274Ser) |
single nucleotide variant |
not provided [RCV001341736] |
Chr5:126811780 [GRCh38] Chr5:126147472 [GRCh37] Chr5:5q23.2 |
likely benign|uncertain significance |
NM_005573.4(LMNB1):c.1387-18C>G |
single nucleotide variant |
not provided [RCV001523316] |
Chr5:126822763 [GRCh38] Chr5:126158455 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1161-64T>G |
single nucleotide variant |
not provided [RCV001669634] |
Chr5:126820846 [GRCh38] Chr5:126156538 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1161-51G>A |
single nucleotide variant |
not provided [RCV001613522] |
Chr5:126820859 [GRCh38] Chr5:126156551 [GRCh37] Chr5:5q23.2 |
benign |
NC_000005.10:g.126776591C>A |
single nucleotide variant |
not provided [RCV001685729] |
Chr5:126776591 [GRCh38] Chr5:126112283 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.360-19C>T |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV002501846]|not provided [RCV001522968] |
Chr5:126804757 [GRCh38] Chr5:126140449 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NR_134485.1(LMNB1-DT):n.26G>T |
single nucleotide variant |
not provided [RCV001536933] |
Chr5:126776461 [GRCh38] Chr5:126112153 [GRCh37] Chr5:5q23.2 |
benign |
GRCh37/hg19 5q23.2-23.3(chr5:124997035-128900524)x1 |
copy number loss |
See cases [RCV002285063] |
Chr5:124997035..128900524 [GRCh37] Chr5:5q23.2-23.3 |
pathogenic |
NM_005573.4(LMNB1):c.1399G>A (p.Gly467Arg) |
single nucleotide variant |
not provided [RCV001770757] |
Chr5:126822793 [GRCh38] Chr5:126158485 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1393C>T (p.Pro465Ser) |
single nucleotide variant |
not provided [RCV001763448] |
Chr5:126822787 [GRCh38] Chr5:126158479 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.72del (p.Thr25fs) |
deletion |
not provided [RCV001752106] |
Chr5:126777577 [GRCh38] Chr5:126113269 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1012A>G (p.Met338Val) |
single nucleotide variant |
not provided [RCV001815943] |
Chr5:126818994 [GRCh38] Chr5:126154686 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.123C>T (p.Asp41=) |
single nucleotide variant |
not provided [RCV002542669]|not specified [RCV001822627] |
Chr5:126777631 [GRCh38] Chr5:126113323 [GRCh37] Chr5:5q23.2 |
benign|likely benign |
NM_005573.4(LMNB1):c.112G>A (p.Glu38Lys) |
single nucleotide variant |
not provided [RCV001871141] |
Chr5:126777620 [GRCh38] Chr5:126113312 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.844A>G (p.Asn282Asp) |
single nucleotide variant |
not provided [RCV001874842] |
Chr5:126811803 [GRCh38] Chr5:126147495 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NC_000005.10:g.126508361_126769360del |
deletion |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001837737] |
Chr5:126508361..126769360 [GRCh38] Chr5:5q23.2 |
pathogenic |
NC_000005.9:g.(?_125880657)_(126171956_?)del |
deletion |
not provided [RCV001992929] |
Chr5:125880657..126171956 [GRCh37] Chr5:5q23.2 |
pathogenic|uncertain significance |
NM_005573.4(LMNB1):c.944G>C (p.Arg315Thr) |
single nucleotide variant |
not provided [RCV002020697] |
Chr5:126818926 [GRCh38] Chr5:126154618 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1073A>G (p.Asn358Ser) |
single nucleotide variant |
not provided [RCV002005820] |
Chr5:126819055 [GRCh38] Chr5:126154747 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1138C>T (p.Leu380Phe) |
single nucleotide variant |
Microcephaly 26, primary, autosomal dominant [RCV001823637] |
Chr5:126819120 [GRCh38] Chr5:126154812 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.547C>A (p.Gln183Lys) |
single nucleotide variant |
not provided [RCV001962155] |
Chr5:126805601 [GRCh38] Chr5:126141293 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.391G>A (p.Ala131Thr) |
single nucleotide variant |
not provided [RCV002038699] |
Chr5:126804807 [GRCh38] Chr5:126140499 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1220G>A (p.Arg407His) |
single nucleotide variant |
not provided [RCV002036955] |
Chr5:126820969 [GRCh38] Chr5:126156661 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1322A>G (p.Asn441Ser) |
single nucleotide variant |
not provided [RCV002000276] |
Chr5:126821071 [GRCh38] Chr5:126156763 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NC_000005.9:g.(?_125880657)_(127873296_?)dup |
duplication |
Pyridoxine-dependent epilepsy [RCV002016776] |
Chr5:125880657..127873296 [GRCh37] Chr5:5q23.2-23.3 |
uncertain significance |
NM_005573.4(LMNB1):c.1456T>G (p.Ser486Ala) |
single nucleotide variant |
not provided [RCV001897277] |
Chr5:126822850 [GRCh38] Chr5:126158542 [GRCh37] Chr5:5q23.2 |
likely benign|uncertain significance |
NM_005573.4(LMNB1):c.313A>C (p.Ile105Leu) |
single nucleotide variant |
not provided [RCV002016676] |
Chr5:126777821 [GRCh38] Chr5:126113513 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NC_000005.9:g.(?_126113201)_(126253863_?)dup |
duplication |
not provided [RCV001951509] |
Chr5:126113201..126253863 [GRCh37] Chr5:5q23.2 |
pathogenic |
NM_005573.4(LMNB1):c.1228C>T (p.Arg410Cys) |
single nucleotide variant |
not provided [RCV001999299] |
Chr5:126820977 [GRCh38] Chr5:126156669 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1306G>A (p.Ala436Thr) |
single nucleotide variant |
not provided [RCV001930182] |
Chr5:126821055 [GRCh38] Chr5:126156747 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.292C>T (p.Arg98Cys) |
single nucleotide variant |
not provided [RCV001877905] |
Chr5:126777800 [GRCh38] Chr5:126113492 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.179T>G (p.Leu60Arg) |
single nucleotide variant |
not provided [RCV002014548] |
Chr5:126777687 [GRCh38] Chr5:126113379 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1451A>G (p.Tyr484Cys) |
single nucleotide variant |
not provided [RCV002029362] |
Chr5:126822845 [GRCh38] Chr5:126158537 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1197A>C (p.Thr399=) |
single nucleotide variant |
not provided [RCV002124769] |
Chr5:126820946 [GRCh38] Chr5:126156638 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.129G>A (p.Leu43=) |
single nucleotide variant |
not provided [RCV002187086] |
Chr5:126777637 [GRCh38] Chr5:126113329 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.517-11C>G |
single nucleotide variant |
not provided [RCV002167701] |
Chr5:126805560 [GRCh38] Chr5:126141252 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.36C>T (p.Gly12=) |
single nucleotide variant |
not provided [RCV002080041] |
Chr5:126777544 [GRCh38] Chr5:126113236 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.360-4C>G |
single nucleotide variant |
not provided [RCV002174728] |
Chr5:126804772 [GRCh38] Chr5:126140464 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.93G>A (p.Gln31=) |
single nucleotide variant |
not provided [RCV002176304] |
Chr5:126777601 [GRCh38] Chr5:126113293 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.29G>T (p.Arg10Leu) |
single nucleotide variant |
not provided [RCV002216496] |
Chr5:126777537 [GRCh38] Chr5:126113229 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1147G>A (p.Gly383Ser) |
single nucleotide variant |
not provided [RCV002248228] |
Chr5:126819129 [GRCh38] Chr5:126154821 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1236T>G (p.Thr412=) |
single nucleotide variant |
not provided [RCV002217147] |
Chr5:126820985 [GRCh38] Chr5:126156677 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.288G>C (p.Thr96=) |
single nucleotide variant |
not provided [RCV002158703] |
Chr5:126777796 [GRCh38] Chr5:126113488 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.360-4C>T |
single nucleotide variant |
not provided [RCV002157567] |
Chr5:126804772 [GRCh38] Chr5:126140464 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1662G>A (p.Glu554=) |
single nucleotide variant |
not provided [RCV003115977] |
Chr5:126832744 [GRCh38] Chr5:126168436 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1528C>T (p.Pro510Ser) |
single nucleotide variant |
not provided [RCV003121894] |
Chr5:126826024 [GRCh38] Chr5:126161716 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.814-1G>T |
single nucleotide variant |
Microcephaly 26, primary, autosomal dominant [RCV003153029] |
Chr5:126811772 [GRCh38] Chr5:126147464 [GRCh37] Chr5:5q23.2 |
likely pathogenic |
NM_005573.4(LMNB1):c.251C>T (p.Thr84Ile) |
single nucleotide variant |
not provided [RCV003131494] |
Chr5:126777759 [GRCh38] Chr5:126113451 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.455C>T (p.Ala152Val) |
single nucleotide variant |
Microcephaly 26, primary, autosomal dominant [RCV003151946] |
Chr5:126804871 [GRCh38] Chr5:126140563 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1491+4A>T |
single nucleotide variant |
not provided [RCV003234368] |
Chr5:126822889 [GRCh38] Chr5:126158581 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.43G>A (p.Ala15Thr) |
single nucleotide variant |
not specified [RCV003231009] |
Chr5:126777551 [GRCh38] Chr5:126113243 [GRCh37] Chr5:5q23.2 |
uncertain significance |
GRCh37/hg19 5q23.2(chr5:126113201-126408992)x1 |
copy number loss |
not provided [RCV002263396] |
Chr5:126113201..126408992 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.151C>T (p.Arg51Cys) |
single nucleotide variant |
not provided [RCV002269658] |
Chr5:126777659 [GRCh38] Chr5:126113351 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.536C>A (p.Ala179Glu) |
single nucleotide variant |
not provided [RCV002263388] |
Chr5:126805590 [GRCh38] Chr5:126141282 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV002267488] |
Chr5:126777509 [GRCh38] Chr5:126113201 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV002466949] |
Chr5:126811848 [GRCh38] Chr5:126147540 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1525C>A (p.Pro509Thr) |
single nucleotide variant |
not provided [RCV002308746] |
Chr5:126826021 [GRCh38] Chr5:126161713 [GRCh37] Chr5:5q23.2 |
uncertain significance |
GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1 |
copy number loss |
not provided [RCV002475732] |
Chr5:112557391..128106299 [GRCh37] Chr5:5q22.2-23.3 |
pathogenic |
NM_005573.4(LMNB1):c.1492-16dup |
duplication |
not provided [RCV002975177] |
Chr5:126825971..126825972 [GRCh38] Chr5:126161663..126161664 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.401A>G (p.Lys134Arg) |
single nucleotide variant |
not provided [RCV002907768] |
Chr5:126804817 [GRCh38] Chr5:126140509 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1114A>G (p.Met372Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002864586]|not provided [RCV003130877] |
Chr5:126819096 [GRCh38] Chr5:126154788 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1398G>A (p.Met466Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002732138] |
Chr5:126822792 [GRCh38] Chr5:126158484 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.241C>T (p.Leu81Phe) |
single nucleotide variant |
not provided [RCV002880673] |
Chr5:126777749 [GRCh38] Chr5:126113441 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.154A>G (p.Ser52Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002903989]|not provided [RCV002926743] |
Chr5:126777662 [GRCh38] Chr5:126113354 [GRCh37] Chr5:5q23.2 |
likely benign|uncertain significance |
NM_005573.4(LMNB1):c.841A>G (p.Met281Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002902017] |
Chr5:126811800 [GRCh38] Chr5:126147492 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.633G>C (p.Met211Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002704904] |
Chr5:126805687 [GRCh38] Chr5:126141379 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1506C>A (p.Asn502Lys) |
single nucleotide variant |
not provided [RCV002736663] |
Chr5:126826002 [GRCh38] Chr5:126161694 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1531A>C (p.Thr511Pro) |
single nucleotide variant |
not provided [RCV002571678] |
Chr5:126826027 [GRCh38] Chr5:126161719 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.338A>G (p.Glu113Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002884260] |
Chr5:126777846 [GRCh38] Chr5:126113538 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.729G>A (p.Ala243=) |
single nucleotide variant |
not provided [RCV002592005] |
Chr5:126810266 [GRCh38] Chr5:126145958 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.348G>C (p.Gln116His) |
single nucleotide variant |
Inborn genetic diseases [RCV002799009] |
Chr5:126777856 [GRCh38] Chr5:126113548 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.849T>G (p.Thr283=) |
single nucleotide variant |
not provided [RCV002867180] |
Chr5:126811808 [GRCh38] Chr5:126147500 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1305C>T (p.Ser435=) |
single nucleotide variant |
not provided [RCV002591921] |
Chr5:126821054 [GRCh38] Chr5:126156746 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.15C>T (p.Thr5=) |
single nucleotide variant |
not provided [RCV002761016] |
Chr5:126777523 [GRCh38] Chr5:126113215 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1563G>A (p.Trp521Ter) |
single nucleotide variant |
not provided [RCV002870789] |
Chr5:126826059 [GRCh38] Chr5:126161751 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1498G>T (p.Ala500Ser) |
single nucleotide variant |
not provided [RCV002596333] |
Chr5:126825994 [GRCh38] Chr5:126161686 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1027G>A (p.Glu343Lys) |
single nucleotide variant |
not provided [RCV002663600] |
Chr5:126819009 [GRCh38] Chr5:126154701 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.207G>A (p.Glu69=) |
single nucleotide variant |
not provided [RCV002786273] |
Chr5:126777715 [GRCh38] Chr5:126113407 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.482G>C (p.Gly161Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002698584] |
Chr5:126804898 [GRCh38] Chr5:126140590 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1343A>G (p.Asp448Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002764236] |
Chr5:126821092 [GRCh38] Chr5:126156784 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.37A>C (p.Ser13Arg) |
single nucleotide variant |
not provided [RCV002829361] |
Chr5:126777545 [GRCh38] Chr5:126113237 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.701G>A (p.Arg234His) |
single nucleotide variant |
Inborn genetic diseases [RCV003082701]|not provided [RCV003082700] |
Chr5:126810238 [GRCh38] Chr5:126145930 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.516+5G>A |
single nucleotide variant |
not provided [RCV002581639] |
Chr5:126804937 [GRCh38] Chr5:126140629 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1719+7C>T |
single nucleotide variant |
not provided [RCV002716742] |
Chr5:126832808 [GRCh38] Chr5:126168500 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.813+4_813+7dup |
duplication |
not provided [RCV003026911] |
Chr5:126810353..126810354 [GRCh38] Chr5:126146045..126146046 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1676A>C (p.Glu559Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002703155] |
Chr5:126832758 [GRCh38] Chr5:126168450 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1504A>T (p.Asn502Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002668285]|LMNB1-related condition [RCV003420400] |
Chr5:126826000 [GRCh38] Chr5:126161692 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.756A>G (p.Gln252=) |
single nucleotide variant |
not provided [RCV002646873] |
Chr5:126810293 [GRCh38] Chr5:126145985 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.94_96del (p.Glu32del) |
deletion |
Inborn genetic diseases [RCV002668478] |
Chr5:126777600..126777602 [GRCh38] Chr5:126113292..126113294 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.340C>T (p.His114Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002934626] |
Chr5:126777848 [GRCh38] Chr5:126113540 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1662GGA[5] (p.Glu559_Ala560insGlu) |
microsatellite |
not provided [RCV003060411] |
Chr5:126832741..126832742 [GRCh38] Chr5:126168433..126168434 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1506C>T (p.Asn502=) |
single nucleotide variant |
not provided [RCV002600311] |
Chr5:126826002 [GRCh38] Chr5:126161694 [GRCh37] Chr5:5q23.2 |
benign |
NM_005573.4(LMNB1):c.1025_1028del (p.Lys342fs) |
deletion |
not provided [RCV002650054] |
Chr5:126819006..126819009 [GRCh38] Chr5:126154698..126154701 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.478G>C (p.Glu160Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002672812] |
Chr5:126804894 [GRCh38] Chr5:126140586 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.506A>G (p.Gln169Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002813308]|not specified [RCV003317654] |
Chr5:126804922 [GRCh38] Chr5:126140614 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1719+15_1719+31dup |
duplication |
not provided [RCV002584251] |
Chr5:126832808..126832809 [GRCh38] Chr5:126168500..126168501 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1386+15C>A |
single nucleotide variant |
not provided [RCV002604448] |
Chr5:126821150 [GRCh38] Chr5:126156842 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.814-3T>C |
single nucleotide variant |
not provided [RCV003052745] |
Chr5:126811770 [GRCh38] Chr5:126147462 [GRCh37] Chr5:5q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005573.4(LMNB1):c.16C>T (p.Pro6Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002723447] |
Chr5:126777524 [GRCh38] Chr5:126113216 [GRCh37] Chr5:5q23.2 |
likely benign|uncertain significance |
NM_005573.4(LMNB1):c.1161-10T>C |
single nucleotide variant |
not provided [RCV002610709] |
Chr5:126820900 [GRCh38] Chr5:126156592 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.814-11T>G |
single nucleotide variant |
not provided [RCV002589390] |
Chr5:126811762 [GRCh38] Chr5:126147454 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1490C>T (p.Thr497Ile) |
single nucleotide variant |
not provided [RCV003131493] |
Chr5:126822884 [GRCh38] Chr5:126158576 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1721G>A (p.Gly574Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003261001] |
Chr5:126836224 [GRCh38] Chr5:126171916 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1216A>C (p.Ser406Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003198675] |
Chr5:126820965 [GRCh38] Chr5:126156657 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.164C>G (p.Thr55Arg) |
single nucleotide variant |
not provided [RCV003134084] |
Chr5:126777672 [GRCh38] Chr5:126113364 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.100GAG[1] (p.Glu35del) |
microsatellite |
not provided [RCV003321276] |
Chr5:126777606..126777608 [GRCh38] Chr5:126113298..126113300 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.946G>C (p.Ala316Pro) |
single nucleotide variant |
not provided [RCV003319774] |
Chr5:126818928 [GRCh38] Chr5:126154620 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1251G>T (p.Lys417Asn) |
single nucleotide variant |
not provided [RCV003327910] |
Chr5:126821000 [GRCh38] Chr5:126156692 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1400G>C (p.Gly467Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003308483]|not provided [RCV003443195] |
Chr5:126822794 [GRCh38] Chr5:126158486 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.778T>C (p.Tyr260His) |
single nucleotide variant |
not provided [RCV003319808] |
Chr5:126810315 [GRCh38] Chr5:126146007 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.682del (p.Leu227_Val228insTer) |
deletion |
not provided [RCV003329908] |
Chr5:126810218 [GRCh38] Chr5:126145910 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1361T>C (p.Ile454Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003356493]|LMNB1-related condition [RCV003434754] |
Chr5:126821110 [GRCh38] Chr5:126156802 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.548A>G (p.Gln183Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003361753] |
Chr5:126805602 [GRCh38] Chr5:126141294 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV003333616] |
Chr5:126777735 [GRCh38] Chr5:126113427 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1079A>G (p.Tyr360Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003348209] |
Chr5:126819061 [GRCh38] Chr5:126154753 [GRCh37] Chr5:5q23.2 |
likely benign |
NM_005573.4(LMNB1):c.1376C>T (p.Thr459Ile) |
single nucleotide variant |
not provided [RCV003443586] |
Chr5:126821125 [GRCh38] Chr5:126156817 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1006C>T (p.Arg336Cys) |
single nucleotide variant |
not provided [RCV003457441] |
Chr5:126818988 [GRCh38] Chr5:126154680 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1160+6G>A |
single nucleotide variant |
not specified [RCV003479562] |
Chr5:126819148 [GRCh38] Chr5:126154840 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.1039G>C (p.Ala347Pro) |
single nucleotide variant |
not provided [RCV003428592] |
Chr5:126819021 [GRCh38] Chr5:126154713 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.212G>A (p.Arg71His) |
single nucleotide variant |
not provided [RCV003429747] |
Chr5:126777720 [GRCh38] Chr5:126113412 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.386A>T (p.Asn129Ile) |
single nucleotide variant |
LMNB1-related condition [RCV003414412] |
Chr5:126804802 [GRCh38] Chr5:126140494 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.882G>A (p.Met294Ile) |
single nucleotide variant |
not provided [RCV003428591] |
Chr5:126811841 [GRCh38] Chr5:126147533 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.923C>G (p.Ser308Cys) |
single nucleotide variant |
LMNB1-related condition [RCV003402808] |
Chr5:126811882 [GRCh38] Chr5:126147574 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.743A>T (p.Glu248Val) |
single nucleotide variant |
not provided [RCV003572956] |
Chr5:126810280 [GRCh38] Chr5:126145972 [GRCh37] Chr5:5q23.2 |
uncertain significance |
NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter) |
single nucleotide variant |
Adult-onset autosomal dominant demyelinating leukodystrophy [RCV003338060] |
Chr5:126811875 [GRCh38] Chr5:126147567 [GRCh37] Chr5:5q23.2 |
uncertain significance |