LMNB1

lamin B1

Summary

This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Known Variants224 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs77621267	5:126,112,129	C/G	—	benign
rs60147760	5:126,112,141	G/A	—	benign
rs2036844	5:126,112,153	C/A	—	benign
rs116519295	5:126,112,169	C/T	—	benign
rs3812062	5:126,112,283	C/A	—	benign
rs190689756	5:126,112,307	C/T	—	likely benign
rs780324372	5:126,112,493	G/C	—	uncertain significance
rs886059851	5:126,112,496	G/T	—	uncertain significance
rs886059852	5:126,112,500	C/T	—	uncertain significance
rs886059853	5:126,112,513	G/A	—	uncertain significance
rs62391732	5:126,112,566	T/C	—	likely benign
rs35091677	5:126,112,580	T/C	—	benign
rs573576730	5:126,112,606	G/A	—	likely benign
rs763586250	5:126,112,618	G/C	—	conflicting classifications of pathogenicity
rs554454508	5:126,112,624	C/T	—	likely benign
rs201308997	5:126,112,649	G/A	—	uncertain significance
rs886059854	5:126,112,661	G/A	—	uncertain significance
rs138982187	5:126,112,710	T/C	—	likely benign
rs886059855	5:126,112,764	C/G	—	uncertain significance
rs886059856	5:126,112,819	C/G	—	uncertain significance
rs561989552	5:126,112,887	C/T	—	benign
rs111865788	5:126,112,903	G/T	—	benign
rs886059857	5:126,113,042	C/G	—	uncertain significance
rs1371898314	5:126,113,125	G/T	—	uncertain significance
rs2112911599	5:126,113,201	A/G	—	uncertain significance
rs2112911602	5:126,113,213	A/G	—	uncertain significance
rs1750491581	5:126,113,215	C/T	—	likely benign
rs758245272	5:126,113,216	C/T	—	conflicting classifications of pathogenicity
rs777808428	5:126,113,218	C/T	—	likely benign
rs960178798	5:126,113,223	C/A	—	uncertain significance
rs540123967	5:126,113,229	G/T	—	benign
rs1247818233	5:126,113,236	C/T	—	likely benign
rs1018427216	5:126,113,237	A/C	—	uncertain significance
rs1026331406	5:126,113,243	G/A	—	uncertain significance
rs755396585	5:126,113,260	G/A	—	likely benign
rs956587497	5:126,113,274	C/T	—	uncertain significance
rs2479404161	5:126,113,289	T/A	—	uncertain significance
rs1235123295	5:126,113,293	G/A	—	benign
rs1750497172	5:126,113,297	A/G	—	pathogenic
rs1750498087	5:126,113,312	G/A	—	uncertain significance
rs576708983	5:126,113,323	C/T	—	likely benign
rs1245844735	5:126,113,324	C/T	—	pathogenic
rs2112911894	5:126,113,329	G/A	—	likely benign
rs755177047	5:126,113,341	C/T	—	benign
rs2112911928	5:126,113,351	C/T	—	uncertain significance
rs546757986	5:126,113,354	A/G	—	conflicting classifications of pathogenicity
rs2479404623	5:126,113,364	C/G	—	uncertain significance
rs142844239	5:126,113,365	G/A	—	likely benign
rs2112911981	5:126,113,379	T/G	—	uncertain significance
rs368286117	5:126,113,406	A/G	—	conflicting classifications of pathogenicity
rs780849458	5:126,113,407	G/A	—	likely benign
rs2479404956	5:126,113,412	G/A	—	uncertain significance
rs372142905	5:126,113,427	C/T	—	uncertain significance
rs1286197151	5:126,113,432	C/T	—	uncertain significance
rs2479405130	5:126,113,441	C/T	—	uncertain significance
rs1288746906	5:126,113,451	C/T	—	uncertain significance
rs772419119	5:126,113,466	C/T	—	likely benign
rs1750506249	5:126,113,469	G/C	—	likely pathogenic
rs74362780	5:126,113,479	C/G	—	likely benign
rs189717541	5:126,113,488	G/C	—	benign
rs1029242875	5:126,113,492	C/T	—	uncertain significance
rs77877457	5:126,113,494	C/G	—	likely benign
rs2112912247	5:126,113,513	A/C	—	uncertain significance
rs2479405763	5:126,113,538	A/G	—	uncertain significance
rs2479405780	5:126,113,540	C/T	—	uncertain significance
rs892127611	5:126,113,548	G/C	—	uncertain significance
rs1187296225	5:126,113,562	G/A	—	conflicting classifications of pathogenicity
rs1230042682	5:126,113,566	G/A	—	likely benign
rs765333856	5:126,113,568	T/C	—	likely benign
rs140680370	5:126,116,200	G/A	regulatory region variant	—
rs147512661	5:126,130,059	G/A	intron variant	—
rs968355	5:126,140,350	G/A	—	benign
rs74640805	5:126,140,449	C/T	—	likely benign
rs376081850	5:126,140,460	T/C	—	uncertain significance
rs888515021	5:126,140,464	C/T	—	likely benign
rs2479497244	5:126,140,490	C/G	—	uncertain significance
rs768259009	5:126,140,493	A/G	—	uncertain significance
rs778185749	5:126,140,494	A/T	—	uncertain significance
rs373303194	5:126,140,499	G/A	—	uncertain significance
rs1751374954	5:126,140,509	A/G	—	uncertain significance
rs1205547665	5:126,140,519	A/T	—	uncertain significance
rs3749830	5:126,140,522	C/T	—	benign
rs34224885	5:126,140,540	G/A	—	benign
rs1451129359	5:126,140,559	A/G	—	uncertain significance
rs935132421	5:126,140,563	C/G	—	pathogenic
rs1751376750	5:126,140,571	G/A	—	uncertain significance
rs1455288022	5:126,140,586	G/C	—	uncertain significance
rs754635429	5:126,140,590	G/C	—	uncertain significance
rs1751377977	5:126,140,614	A/G	—	uncertain significance
rs529787240	5:126,140,629	G/A	—	benign
rs756624833	5:126,141,252	C/G	—	likely benign
rs1185029241	5:126,141,282	C/A	—	uncertain significance
rs1751395478	5:126,141,293	C/A	—	uncertain significance
rs761806574	5:126,141,294	A/G	—	uncertain significance
rs1227785042	5:126,141,368	C/T	—	uncertain significance
rs138778484	5:126,141,379	G/C	—	conflicting classifications of pathogenicity
rs200907573	5:126,141,398	T/C	—	likely benign
rs2271354	5:126,145,771	A/G	—	benign
rs762491977	5:126,145,880	C/T	—	likely benign
rs372510778	5:126,145,901	A/G	—	likely benign

Showing 100 of 224 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.