LMNA[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6557601.	NC_000001.11:g.(?_156114909)_(156115284_?)del GRCh37: Chr1:156084700-156085075 GRCh38: Chr1:156114909-156115284	LMNA		Charcot-Marie-Tooth disease type 2	Pathogenic (Jan 14, 2019)	criteria provided, single submitter
Select item 10767042.	NM_170707.4(LMNA):c.1A>T (p.Met1Leu) GRCh37: Chr1:156084710 GRCh38: Chr1:156114919	LMNA	M1L	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 1801063.	NM_170707.2(LMNA):c.(?_1)_(356_?)del GRCh37: Chr1:156084710-156085065 GRCh38: Chr1:156114919-156115274	LMNA		Primary dilated cardiomyopathy, Laminopathy	Pathogenic (Nov 25, 2014)	criteria provided, single submitter
Select item 4887054.	NM_170707.4(LMNA):c.3G>A (p.Met1Ile) GRCh37: Chr1:156084712 GRCh38: Chr1:156114921	LMNA	M1I	Charcot-Marie-Tooth disease type 2, not provided, See cases	Pathogenic (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2458385.	NM_170707.4(LMNA):c.3G>C (p.Met1Ile) GRCh37: Chr1:156084712 GRCh38: Chr1:156114921	LMNA	M1I	not provided	Pathogenic (Apr 28, 2017)	criteria provided, single submitter
Select item 2009496.	NM_170707.4(LMNA):c.3G>T (p.Met1Ile) GRCh37: Chr1:156084712 GRCh38: Chr1:156114921	LMNA	M1I	Charcot-Marie-Tooth disease type 2, not provided	Pathogenic/Likely pathogenic (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5680517.	NM_170707.4(LMNA):c.4G>T (p.Glu2Ter) GRCh37: Chr1:156084713 GRCh38: Chr1:156114922	LMNA	E2*	Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype	Pathogenic (Nov 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 6406498.	NM_170707.4(LMNA):c.11dup (p.Ser5fs) GRCh37: Chr1:156084716-156084717 GRCh38: Chr1:156114925-156114926	LMNA	S5fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 9, 2018)	criteria provided, single submitter
Select item 15017219.	NM_170707.4(LMNA):c.11C>A (p.Pro4Gln) GRCh37: Chr1:156084720 GRCh38: Chr1:156114929	LMNA	P4Q	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 6679510.	NM_170707.4(LMNA):c.11C>G (p.Pro4Arg) GRCh37: Chr1:156084720 GRCh38: Chr1:156114929	LMNA	P4R	Charcot-Marie-Tooth disease type 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 93850111.	NM_170707.4(LMNA):c.13del (p.Ser5fs) GRCh37: Chr1:156084722 GRCh38: Chr1:156114931	LMNA	S5fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 93941812.	NM_170707.4(LMNA):c.16del (p.Gln6fs) GRCh37: Chr1:156084723 GRCh38: Chr1:156114932	LMNA	Q6fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 1447713.	NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) GRCh37: Chr1:156084725 GRCh38: Chr1:156114934	LMNA	Q6*	Primary dilated cardiomyopathy	Pathogenic (Jun 2, 2011)	criteria provided, single submitter
Select item 194378514.	NM_170707.4(LMNA):c.28A>C (p.Thr10Pro) GRCh37: Chr1:156084737 GRCh38: Chr1:156114946	LMNA	T10P	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 6688815.	NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) GRCh37: Chr1:156084738 GRCh38: Chr1:156114947	LMNA	T10I	Inborn genetic diseases, not provided, Familial partial lipodystrophy, Dunnigan type	Pathogenic/Likely pathogenic (Mar 15, 2016)	criteria provided, multiple submitters, no conflicts
Select item 145776516.	NM_170707.4(LMNA):c.43C>T (p.Gln15Ter) GRCh37: Chr1:156084752 GRCh38: Chr1:156114961	LMNA	Q15*	Charcot-Marie-Tooth disease type 2	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 19331617.	NM_170707.4(LMNA):c.48del (p.Ser17fs) GRCh37: Chr1:156084756 GRCh38: Chr1:156114965	LMNA	S17fs	not provided	Pathogenic (Jan 20, 2015)	criteria provided, single submitter
Select item 54321218.	NM_170707.4(LMNA):c.52_53dup (p.Thr19fs) GRCh37: Chr1:156084759-156084760 GRCh38: Chr1:156114968-156114969	LMNA	T19fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 52302619.	NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) GRCh37: Chr1:156084768 GRCh38: Chr1:156114977	LMNA	P20L	Congenital muscular dystrophy due to LMNA mutation	Likely pathogenic (Dec 18, 2017)	criteria provided, single submitter
Select item 20095020.	NM_170707.4(LMNA):c.64T>G (p.Ser22Ala) GRCh37: Chr1:156084773 GRCh38: Chr1:156114982	LMNA	S22A	not provided	Likely pathogenic (Feb 20, 2014)	criteria provided, single submitter
Select item 132324021.	NM_170707.4(LMNA):c.65del (p.Ser22fs) GRCh37: Chr1:156084774 GRCh38: Chr1:156114983	LMNA	S22fs	not provided	Pathogenic (Aug 12, 2019)	criteria provided, single submitter
Select item 28783922.	NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs) GRCh37: Chr1:156084774-156084775 GRCh38: Chr1:156114983-156114984	LMNA	S22fs	not provided	Pathogenic (Apr 29, 2016)	criteria provided, single submitter
Select item 57398123.	NM_170707.4(LMNA):c.73del (p.Arg25fs) GRCh37: Chr1:156084780 GRCh38: Chr1:156114989	LMNA	R25fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Jan 23, 2020)	criteria provided, single submitter
Select item 6692924.	NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) GRCh37: Chr1:156084782 GRCh38: Chr1:156114991	LMNA	R25C	Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6692825.	NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) GRCh37: Chr1:156084782 GRCh38: Chr1:156114991	LMNA	R25G	Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided	Pathogenic/Likely pathogenic (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6693226.	NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) GRCh37: Chr1:156084783 GRCh38: Chr1:156114992	LMNA	R25P	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 80429827.	NM_170707.4(LMNA):c.80C>T (p.Thr27Ile) GRCh37: Chr1:156084789 GRCh38: Chr1:156114998	LMNA	T27I	Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation	Likely pathogenic (Sep 12, 2019)	criteria provided, single submitter
Select item 22506528.	NM_170707.4(LMNA):c.82C>G (p.Arg28Gly) GRCh37: Chr1:156084791 GRCh38: Chr1:156115000	LMNA	R28G	Inborn genetic diseases	Likely pathogenic (Dec 28, 2012)	criteria provided, single submitter
Select item 6694629.	NM_170707.4(LMNA):c.82C>T (p.Arg28Trp) GRCh37: Chr1:156084791 GRCh38: Chr1:156115000	LMNA	R28W	Charcot-Marie-Tooth disease type 2	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 28546830.	NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) GRCh37: Chr1:156084792 GRCh38: Chr1:156115001	LMNA	R28Q	not provided, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Charcot-Marie-Tooth disease type 2	Pathogenic/Likely pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21837631.	NM_170707.4(LMNA):c.91_93del (p.Glu31del) GRCh37: Chr1:156084798-156084800 GRCh38: Chr1:156115007-156115009	LMNA	E31del	Charcot-Marie-Tooth disease type 2	Pathogenic (Oct 3, 2021)	criteria provided, single submitter
Select item 57377832.	NM_170707.4(LMNA):c.91G>A (p.Glu31Lys) GRCh37: Chr1:156084800 GRCh38: Chr1:156115009	LMNA	E31K	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 94416833.	NM_170707.4(LMNA):c.92A>G (p.Glu31Gly) GRCh37: Chr1:156084801 GRCh38: Chr1:156115010	LMNA	E31G	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 26, 2019)	criteria provided, single submitter
Select item 6696034.	NM_170707.4(LMNA):c.94_96del (p.Lys32del) GRCh37: Chr1:156084801-156084803 GRCh38: Chr1:156115010-156115012	LMNA	K32del	Charcot-Marie-Tooth disease type 2, not provided	Pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65599635.	NM_170707.4(LMNA):c.94A>T (p.Lys32Ter) GRCh37: Chr1:156084803 GRCh38: Chr1:156115012	LMNA	K32*	Charcot-Marie-Tooth disease type 2	Pathogenic (Apr 28, 2021)	criteria provided, single submitter
Select item 47683736.	NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) GRCh37: Chr1:156084803 GRCh38: Chr1:156115012	LMNA	K32E	Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2	Pathogenic/Likely pathogenic (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6696237.	NM_170707.4(LMNA):c.98A>G (p.Glu33Gly) GRCh37: Chr1:156084807 GRCh38: Chr1:156115016	LMNA	E33G	Charcot-Marie-Tooth disease type 2	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 6696438.	NM_170707.4(LMNA):c.99G>C (p.Glu33Asp) GRCh37: Chr1:156084808 GRCh38: Chr1:156115017	LMNA	E33D	not provided	Likely pathogenic (Aug 24, 2019)	criteria provided, multiple submitters, no conflicts
Select item 106782639.	NM_170707.4(LMNA):c.112C>G (p.Leu38Val) GRCh37: Chr1:156084821 GRCh38: Chr1:156115030	LMNA	L38V	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 220285740.	NM_170707.4(LMNA):c.115A>G (p.Asn39Asp) GRCh37: Chr1:156084824 GRCh38: Chr1:156115033	LMNA	N39D	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 93583341.	NM_170707.4(LMNA):c.115A>C (p.Asn39His) GRCh37: Chr1:156084824 GRCh38: Chr1:156115033	LMNA	N39H	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 64920342.	NM_170707.4(LMNA):c.116A>T (p.Asn39Ile) GRCh37: Chr1:156084825 GRCh38: Chr1:156115034	LMNA	N39I	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 6679143.	NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) GRCh37: Chr1:156084825 GRCh38: Chr1:156115034	LMNA	N39S	Charcot-Marie-Tooth disease type 2, not provided, Benign scapuloperoneal muscular dystrophy with cardiomyopathy	Pathogenic (Dec 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209808244.	NM_170707.4(LMNA):c.117T>A (p.Asn39Lys) GRCh37: Chr1:156084826 GRCh38: Chr1:156115035	LMNA	N39K	Charcot-Marie-Tooth disease type 2	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 80624045.	NM_170707.4(LMNA):c.122G>C (p.Arg41Pro) GRCh37: Chr1:156084831 GRCh38: Chr1:156115040	LMNA	R41P	not provided	Likely pathogenic (Jul 1, 2017)	criteria provided, single submitter
Select item 40899446.	NM_170707.4(LMNA):c.122G>A (p.Arg41His) GRCh37: Chr1:156084831 GRCh38: Chr1:156115040	LMNA	R41H	Charcot-Marie-Tooth disease type 2, not provided	Pathogenic (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147965747.	NM_170707.4(LMNA):c.125T>C (p.Leu42Ser) GRCh37: Chr1:156084834 GRCh38: Chr1:156115043	LMNA	L42S	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 145776648.	NM_170707.4(LMNA):c.128C>A (p.Ala43Glu) GRCh37: Chr1:156084837 GRCh38: Chr1:156115046	LMNA	A43E	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 145362149.	NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter) GRCh37: Chr1:156084844 GRCh38: Chr1:156115053	LMNA	Y45*	Charcot-Marie-Tooth disease type 2	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 138675350.	NM_170707.4(LMNA):c.142C>G (p.Arg48Gly) GRCh37: Chr1:156084851 GRCh38: Chr1:156115060	LMNA	R48G	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 64602751.	NM_170707.4(LMNA):c.143G>C (p.Arg48Pro) GRCh37: Chr1:156084852 GRCh38: Chr1:156115061	LMNA	R48P	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 4804252.	NM_170707.4(LMNA):c.154C>G (p.Leu52Val) GRCh37: Chr1:156084863 GRCh38: Chr1:156115072	LMNA	L52V	Primary dilated cardiomyopathy	Likely pathogenic (Aug 10, 2011)	criteria provided, single submitter
Select item 42491553.	NM_170707.4(LMNA):c.158A>G (p.Glu53Gly) GRCh37: Chr1:156084867 GRCh38: Chr1:156115076	LMNA	E53G	Charcot-Marie-Tooth disease type 2, not provided	Pathogenic/Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 24575754.	NM_170707.4(LMNA):c.162_163del (p.Asn56fs) GRCh37: Chr1:156084871-156084872 GRCh38: Chr1:156115080-156115081	LMNA	N56fs	Charcot-Marie-Tooth disease type 2, not provided	Pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94141655.	NM_170707.4(LMNA):c.163G>T (p.Glu55Ter) GRCh37: Chr1:156084872 GRCh38: Chr1:156115081	LMNA	E55*	Charcot-Marie-Tooth disease type 2	Pathogenic (Sep 7, 2019)	criteria provided, single submitter
Select item 130866956.	NM_170707.4(LMNA):c.164A>G (p.Glu55Gly) GRCh37: Chr1:156084873 GRCh38: Chr1:156115082	LMNA	E55G	Hutchinson-Gilford syndrome	Likely pathogenic (Nov 1, 2021)	criteria provided, single submitter
Select item 41945557.	NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs) GRCh37: Chr1:156084873-156084877 GRCh38: Chr1:156115082-156115086	LMNA	E55fs	not provided	Likely pathogenic (Nov 27, 2017)	criteria provided, single submitter
Select item 134135858.	NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) GRCh37: Chr1:156084877 GRCh38: Chr1:156115086	LMNA	N56K	Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome	Likely pathogenic	criteria provided, single submitter
Select item 1450659.	NM_170707.4(LMNA):c.169G>C (p.Ala57Pro) GRCh37: Chr1:156084878 GRCh38: Chr1:156115087	LMNA	A57P	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Pathogenic (Feb 15, 2009)	no assertion criteria provided
Select item 1845760.	NM_170707.4(LMNA):c.176T>G (p.Leu59Arg) GRCh37: Chr1:156084885 GRCh38: Chr1:156115094	LMNA	L59R	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Pathogenic (Feb 15, 2009)	no assertion criteria provided
Select item 1447961.	NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) GRCh37: Chr1:156084887 GRCh38: Chr1:156115096	LMNA	R60G	Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy 1A	Pathogenic (Aug 27, 2002)	no assertion criteria provided
Select item 20095262.	NM_170707.4(LMNA):c.179G>C (p.Arg60Pro) GRCh37: Chr1:156084888 GRCh38: Chr1:156115097	LMNA	R60P	not provided	Likely pathogenic (Dec 10, 2018)	criteria provided, single submitter
Select item 57059263.	NM_170707.4(LMNA):c.184C>T (p.Arg62Cys) GRCh37: Chr1:156084893 GRCh38: Chr1:156115102	LMNA	R62C	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 6686864.	NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) GRCh37: Chr1:156084893 GRCh38: Chr1:156115102	LMNA	R62G	not provided, Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type	Pathogenic (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107214865.	NM_170707.4(LMNA):c.186dup (p.Ile63fs) GRCh37: Chr1:156084894-156084895 GRCh38: Chr1:156115103-156115104	LMNA	I63fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Feb 24, 2020)	criteria provided, single submitter
Select item 97160666.	NM_170707.4(LMNA):c.185G>T (p.Arg62Leu) GRCh37: Chr1:156084894 GRCh38: Chr1:156115103	LMNA	R62L	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 195657367.	NM_170707.4(LMNA):c.193G>A (p.Glu65Lys) GRCh37: Chr1:156084902 GRCh38: Chr1:156115111	LMNA	E65K	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 200330568.	NM_170707.4(LMNA):c.194A>T (p.Glu65Val) GRCh37: Chr1:156084903 GRCh38: Chr1:156115112	LMNA	E65V	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 107412769.	NM_170707.4(LMNA):c.194A>G (p.Glu65Gly) GRCh37: Chr1:156084903 GRCh38: Chr1:156115112	LMNA	E65G	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 141263970.	NM_170707.4(LMNA):c.203A>T (p.Glu68Val) GRCh37: Chr1:156084912 GRCh38: Chr1:156115121	LMNA	E68V	Charcot-Marie-Tooth disease type 2	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 213226371.	NM_170707.4(LMNA):c.205del (p.Val69fs) GRCh37: Chr1:156084913 GRCh38: Chr1:156115122	LMNA	V69fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 84235372.	NM_170707.4(LMNA):c.210del (p.Ser71fs) GRCh37: Chr1:156084919 GRCh38: Chr1:156115128	LMNA	S71fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Jun 5, 2019)	criteria provided, single submitter
Select item 94214073.	NM_170707.4(LMNA):c.217G>T (p.Glu73Ter) GRCh37: Chr1:156084926 GRCh38: Chr1:156115135	LMNA	E73*	Charcot-Marie-Tooth disease type 2, not provided	Pathogenic (Apr 13, 2020)	criteria provided, multiple submitters, no conflicts
Select item 44401174.	NM_170707.4(LMNA):c.234G>T (p.Lys78Asn) GRCh37: Chr1:156084943 GRCh38: Chr1:156115152	LMNA	K78N	Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic	criteria provided, single submitter
Select item 101008975.	NM_170707.4(LMNA):c.239_256del (p.Ala80_Leu85del) GRCh37: Chr1:156084946-156084963 GRCh38: Chr1:156115155-156115172	LMNA		Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 179147276.	NM_170707.4(LMNA):c.244G>T (p.Glu82Ter) GRCh37: Chr1:156084953 GRCh38: Chr1:156115162	LMNA	E82*	Cardiovascular phenotype	Pathogenic (Dec 23, 2020)	criteria provided, single submitter
Select item 6688277.	NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) GRCh37: Chr1:156084953 GRCh38: Chr1:156115162	LMNA	E82K	Charcot-Marie-Tooth disease type 2, not provided, Primary dilated cardiomyopathy	Pathogenic (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208937978.	NM_170707.4(LMNA):c.245A>G (p.Glu82Gly) GRCh37: Chr1:156084954 GRCh38: Chr1:156115163	LMNA	E82G	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 54322979.	NM_170707.4(LMNA):c.248_251dup (p.Glu84fs) GRCh37: Chr1:156084956-156084957 GRCh38: Chr1:156115165-156115166	LMNA	E84fs	Charcot-Marie-Tooth disease type 2	Pathogenic (Oct 8, 2019)	criteria provided, single submitter
Select item 213551880.	NM_170707.4(LMNA):c.250G>T (p.Glu84Ter) GRCh37: Chr1:156084959 GRCh38: Chr1:156115168	LMNA	E84*	Charcot-Marie-Tooth disease type 2	Pathogenic (May 8, 2022)	criteria provided, single submitter
Select item 24200481.	NM_170707.4(LMNA):c.254T>A (p.Leu85His) GRCh37: Chr1:156084963 GRCh38: Chr1:156115172	LMNA	L85H	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 95902982.	NM_170707.4(LMNA):c.265C>G (p.Arg89Gly) GRCh37: Chr1:156084974 GRCh38: Chr1:156115183	LMNA	R89G	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 136430783.	NM_170707.4(LMNA):c.266G>C (p.Arg89Pro) GRCh37: Chr1:156084975 GRCh38: Chr1:156115184	LMNA	R89P	Charcot-Marie-Tooth disease type 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 6688484.	NM_170707.4(LMNA):c.266G>T (p.Arg89Leu) GRCh37: Chr1:156084975 GRCh38: Chr1:156115184	LMNA	R89L	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 6688585.	NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) GRCh37: Chr1:156084983 GRCh38: Chr1:156115192	LMNA	L92F	Primary familial dilated cardiomyopathy, Cardiovascular phenotype	Likely pathogenic (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107193586.	NM_170707.4(LMNA):c.275T>C (p.Leu92Pro) GRCh37: Chr1:156084984 GRCh38: Chr1:156115193	LMNA	L92P	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 135708687.	NM_170707.4(LMNA):c.280T>C (p.Ser94Pro) GRCh37: Chr1:156084989 GRCh38: Chr1:156115198	LMNA	S94P	Charcot-Marie-Tooth disease type 2	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 135895388.	NM_170707.4(LMNA):c.283_284delinsTG (p.Val95Ter) GRCh37: Chr1:156084992-156084993 GRCh38: Chr1:156115201-156115202	LMNA	V95*	Charcot-Marie-Tooth disease type 2	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 107060089.	NM_170707.4(LMNA):c.298_299del (p.Ala100fs) GRCh37: Chr1:156085003-156085004 GRCh38: Chr1:156115212-156115213	LMNA	A100fs	Charcot-Marie-Tooth disease type 2, not provided	Pathogenic (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 68481990.	NM_170707.4(LMNA):c.296G>C (p.Arg99Pro) GRCh37: Chr1:156085005 GRCh38: Chr1:156115214	LMNA	R99P	Primary familial dilated cardiomyopathy	Likely pathogenic	criteria provided, single submitter
Select item 43045791.	NM_170707.4(LMNA):c.307C>T (p.Gln103Ter) GRCh37: Chr1:156085016 GRCh38: Chr1:156115225	LMNA	Q103*	not provided	Likely pathogenic (Sep 1, 2016)	criteria provided, single submitter
Select item 129983792.	NM_170707.4(LMNA):c.308A>G (p.Gln103Arg) GRCh37: Chr1:156085017 GRCh38: Chr1:156115226	LMNA	Q103R	not provided	Likely pathogenic	no assertion criteria provided
Select item 209808393.	NM_170707.4(LMNA):c.317T>C (p.Leu106Pro) GRCh37: Chr1:156085026 GRCh38: Chr1:156115235	LMNA	L106P	Charcot-Marie-Tooth disease type 2	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 20095494.	NM_170707.4(LMNA):c.329del (p.Arg110fs) GRCh37: Chr1:156085038 GRCh38: Chr1:156115247	LMNA	R110fs	not provided	Likely pathogenic (Apr 6, 2017)	criteria provided, single submitter
Select item 143490995.	NM_170707.4(LMNA):c.334G>T (p.Glu112Ter) GRCh37: Chr1:156085043 GRCh38: Chr1:156115252	LMNA	E112*	Charcot-Marie-Tooth disease type 2	Pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 20095596.	NM_170707.4(LMNA):c.339dup (p.Lys114Ter) GRCh37: Chr1:156085045-156085046 GRCh38: Chr1:156115254-156115255	LMNA	K114*	not provided	Likely pathogenic (Apr 4, 2017)	criteria provided, single submitter
Select item 4806197.	NM_170707.4(LMNA):c.348dup (p.Lys117fs) GRCh37: Chr1:156085056-156085057 GRCh38: Chr1:156115265-156115266	LMNA	K117fs	Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy	Pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22269598.	NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly) GRCh37: Chr1:156085063-156085064 GRCh38: Chr1:156115272-156115273	LMNA	R119G	Conduction system disorder	Likely pathogenic (Mar 11, 2015)	criteria provided, single submitter
Select item 22827199.	NM_170707.4(LMNA):c.356+1G>C GRCh37: Chr1:156085066 GRCh38: Chr1:156115275	LMNA		Primary dilated cardiomyopathy, not provided	Pathogenic/Likely pathogenic (Nov 9, 2016)	criteria provided, multiple submitters, no conflicts
Select item 200933100.	NM_170707.4(LMNA):c.356+1G>A GRCh37: Chr1:156085066 GRCh38: Chr1:156115275	LMNA		Charcot-Marie-Tooth disease type 2, not provided	Pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts

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