ClinVar for MedGen (Select 356995) - ClinVar

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Items: 51

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25854441.	NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter) GRCh37: Chr5:126147567 GRCh38: Chr5:126811875	LMNB1	Q306, Q96	Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance	criteria provided, single submitter
Select item 25826012.	NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile) GRCh37: Chr5:126113427 GRCh38: Chr5:126777735	LMNB1	T76I	Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (May 9, 2023)	criteria provided, single submitter
Select item 18032793.	NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys) GRCh37: Chr5:126147540 GRCh38: Chr5:126811848	LMNB1	R297C, R87C	Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 13421474.	NC_000005.10:g.126508361_126769360del GRCh38: Chr5:126508361-126769360	ALDH7A1, LMNB1, LMNB1-DT, LOC112997555, LOC129389358, LOC129389359, LOC129994503, LOC129994504, LOC129994505, PHAX, SPMIP10		Adult-onset autosomal dominant demyelinating leukodystrophy	Pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 11705305.	NM_005573.4(LMNB1):c.360-19C>T GRCh37: Chr5:126140449 GRCh38: Chr5:126804757	LMNB1		not provided, Microcephaly 26, primary, autosomal dominant, Adult-onset autosomal dominant demyelinating leukodystrophy	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10323386.	NM_005573.4(LMNB1):c.360-8T>C GRCh37: Chr5:126140460 GRCh38: Chr5:126804768	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (May 7, 2018)	criteria provided, single submitter
Select item 9766127.	NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn) GRCh37: Chr5:126156619 GRCh38: Chr5:126820927	LMNB1	S393N, S183N	Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Apr 28, 2017)	criteria provided, single submitter
Select item 9766118.	NM_005573.4(LMNB1):c.1161-6A>G GRCh37: Chr5:126156596 GRCh38: Chr5:126820904	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9317539.	NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) GRCh37: Chr5:126140519 GRCh38: Chr5:126804827	LMNB1	E137D	Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jul 5, 2019)	criteria provided, single submitter
Select item 90731010.	NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) GRCh37: Chr5:126154684 GRCh38: Chr5:126818992	LMNB1	R337H, R127H	Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90730911.	NM_005573.4(LMNB1):c.987T>C (p.Ala329=) GRCh37: Chr5:126154661 GRCh38: Chr5:126818969	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90730812.	NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) GRCh37: Chr5:126147504 GRCh38: Chr5:126811812	LMNB1	T285A, T75A	Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90730713.	NM_005573.4(LMNB1):c.775C>T (p.Leu259=) GRCh37: Chr5:126146004 GRCh38: Chr5:126810312	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90730614.	NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys) GRCh37: Chr5:126145929 GRCh38: Chr5:126810237	LMNB1	R234C, R24C	Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90636515.	NM_005573.4(LMNB1):c.*640G>A GRCh37: Chr5:126172596 GRCh38: Chr5:126836904	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 90636416.	NM_005573.4(LMNB1):c.*634A>G GRCh37: Chr5:126172590 GRCh38: Chr5:126836898	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90636317.	NM_005573.4(LMNB1):c.*631G>A GRCh37: Chr5:126172587 GRCh38: Chr5:126836895	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90636218.	NM_005573.4(LMNB1):c.*301T>C GRCh37: Chr5:126172257 GRCh38: Chr5:126836565	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90629419.	NM_005573.4(LMNB1):c.60G>A (p.Thr20=) GRCh37: Chr5:126113260 GRCh38: Chr5:126777568	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90629320.	NM_005573.4(LMNB1):c.-76G>T GRCh37: Chr5:126113125 GRCh38: Chr5:126777433	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90585421.	NM_005573.4(LMNB1):c.*284T>G GRCh37: Chr5:126172240 GRCh38: Chr5:126836548	LMNB1		not provided, Adult-onset autosomal dominant demyelinating leukodystrophy	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 90585322.	NM_005573.4(LMNB1):c.*270T>C GRCh37: Chr5:126172226 GRCh38: Chr5:126836534	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90585223.	NM_005573.4(LMNB1):c.*189T>G GRCh37: Chr5:126172145 GRCh38: Chr5:126836453	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90585124.	NM_005573.4(LMNB1):c.*54A>T GRCh37: Chr5:126172010 GRCh38: Chr5:126836318	LMNB1		not provided, Adult-onset autosomal dominant demyelinating leukodystrophy	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 35062825.	NM_005573.4(LMNB1):c.*691A>G GRCh37: Chr5:126172647 GRCh38: Chr5:126836955	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35062726.	NM_005573.4(LMNB1):c.*629G>C GRCh37: Chr5:126172585 GRCh38: Chr5:126836893	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35062627.	NM_005573.4(LMNB1):c.*629G>A GRCh37: Chr5:126172585 GRCh38: Chr5:126836893	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35062528.	NM_005573.4(LMNB1):c.*518T>C GRCh37: Chr5:126172474 GRCh38: Chr5:126836782	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35062429.	NM_005573.4(LMNB1):c.*503A>T GRCh37: Chr5:126172459 GRCh38: Chr5:126836767	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35062330.	NM_005573.4(LMNB1):c.*239C>T GRCh37: Chr5:126172195 GRCh38: Chr5:126836503	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35062231.	NM_005573.4(LMNB1):c.*43T>C GRCh37: Chr5:126171999 GRCh38: Chr5:126836307	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35062132.	NM_005573.4(LMNB1):c.*15T>C GRCh37: Chr5:126171971 GRCh38: Chr5:126836279	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35062033.	NM_005573.4(LMNB1):c.1560G>A (p.Ser520=) GRCh37: Chr5:126161748 GRCh38: Chr5:126826056	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35061934.	NM_005573.4(LMNB1):c.1492-11G>T GRCh37: Chr5:126161669 GRCh38: Chr5:126825977	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35061835.	NM_005573.4(LMNB1):c.1387-3T>C GRCh37: Chr5:126158470 GRCh38: Chr5:126822778	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35061736.	NM_005573.4(LMNB1):c.1190G>A (p.Arg397His) GRCh37: Chr5:126156631 GRCh38: Chr5:126820939	LMNB1	R397H, R187H	Adult-onset autosomal dominant demyelinating leukodystrophy	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35061637.	NM_005573.4(LMNB1):c.1023C>T (p.Asp341=) GRCh37: Chr5:126154697 GRCh38: Chr5:126819005	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35061538.	NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) GRCh37: Chr5:126145905 GRCh38: Chr5:126810213	LMNB1	R226C, R16C	Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 35061439.	NM_005573.4(LMNB1):c.672A>G (p.Glu224=) GRCh37: Chr5:126145901 GRCh38: Chr5:126810209	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35061340.	NM_005573.4(LMNB1):c.642+10T>C GRCh37: Chr5:126141398 GRCh38: Chr5:126805706	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign/Likely benign (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35061241.	NM_005573.4(LMNB1):c.279C>T (p.Leu93=) GRCh37: Chr5:126113479 GRCh38: Chr5:126777787	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35061142.	NM_005573.4(LMNB1):c.141C>T (p.Ile47=) GRCh37: Chr5:126113341 GRCh38: Chr5:126777649	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35061043.	NM_005573.4(LMNB1):c.-159C>G GRCh37: Chr5:126113042 GRCh38: Chr5:126777350	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35060944.	NM_005573.4(LMNB1):c.-298G>T GRCh37: Chr5:126112903 GRCh38: Chr5:126777211	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35060845.	NM_005573.4(LMNB1):c.-314C>T GRCh37: Chr5:126112887 GRCh38: Chr5:126777195	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 12948646.	NM_005573.4(LMNB1):c.432G>A (p.Ser144=) GRCh37: Chr5:126140540 GRCh38: Chr5:126804848	LMNB1		not provided, Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6661547.	NM_005573.4(LMNB1):c.852T>C (p.Ser284=) GRCh37: Chr5:126147503 GRCh38: Chr5:126811811	LMNB1		not provided, Adult-onset autosomal dominant demyelinating leukodystrophy	Benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6661448.	NM_005573.4(LMNB1):c.414T>C (p.Tyr138=) GRCh37: Chr5:126140522 GRCh38: Chr5:126804830	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6661349.	NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) GRCh37: Chr5:126161690 GRCh38: Chr5:126825998	LMNB1	A501V, A291V	Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6661250.	NM_005573.4(LMNB1):c.*18C>T GRCh37: Chr5:126171974 GRCh38: Chr5:126836282	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy, not provided	Benign (May 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1447651.	NC_000005.9:g.(?_126102443)_(126199753_?)dup GRCh37: Chr5:126102443-126199753	LMNB1		Adult-onset autosomal dominant demyelinating leukodystrophy	Pathogenic (Aug 1, 2013)	no assertion criteria provided

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Items: 51