LOC126805877[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 660674	NC_000001.10:g.(?_155870169)_(156108907_?)dup	ARHGEF2-AS2, KHDC4 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 543304	NC_000001.10:g.(?_156084690)_(156109650_?)dup	LMNA, LOC120893162 +5 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 543301	NC_000001.11:g.(?_156114899)_(156139859_?)del	LMNA, LOC120893162 +5 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 665025	NC_000001.11:g.(?_156114919)_(156243162_?)del	BGLAP, LMNA +23 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 668923	NM_170707.4(LMNA):c.357-269T>C	LMNA, LOC126805877	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243267	NM_170707.4(LMNA):c.357-171dup	LMNA, LOC126805877	Duplication (intron variant)	not provided	GBenign
Select item 36478	NM_170707.4(LMNA):c.357-20C>T	LOC126805877, LMNA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 200925	NM_170707.4(LMNA):c.357-19T>C	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 2723540	NM_170707.4(LMNA):c.357-18C>G	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2773535	NM_170707.4(LMNA):c.357-15C>T	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 1331973	NM_170707.4(LMNA):c.357-13C>A	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 3070462	NM_170707.4(LMNA):c.357-9C>A	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1081399	NM_170707.4(LMNA):c.357-9C>T	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1142681	NM_170707.4(LMNA):c.357-8T>C	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 2791190	NM_170707.4(LMNA):c.357-6C>G	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 652066	NM_170707.4(LMNA):c.357-2A>G	LOC126805877, LMNA	Single nucleotide variant (splice acceptor variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 66893	NM_170707.4(LMNA):c.357-1G>T	LMNA, LOC126805877	Single nucleotide variant (splice acceptor variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +16 more	GConflicting classifications of pathogenicity
Select item 2162192	NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)	LMNA, LOC126805877 (K10* +3 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 1312287	NM_170707.4(LMNA):c.364A>G (p.Lys122Glu)	LMNA, LOC126805877 (K10E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 962315	NM_170707.4(LMNA):c.364A>C (p.Lys122Gln)	LMNA, LOC126805877 (K122Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 200947	NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del)	LMNA, LOC126805877 (K123del +2 more)	Microsatellite (inframe_deletion)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 2671668	NM_170707.4(LMNA):c.365A>G (p.Lys122Arg)	LMNA, LOC126805877 (K10R +3 more)	Single nucleotide variant (missense variant +2 more)	Mandibuloacral dysplasia with type A lipodystrophy	GUncertain significance
Select item 1113335	NM_170707.4(LMNA):c.366G>A (p.Lys122=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2587216	NM_170707.4(LMNA):c.369G>T (p.Lys123Asn)	LMNA, LOC126805877 (K123N +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 923835	NM_170707.4(LMNA):c.369G>A (p.Lys123=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +14 more	GLikely benign
Select item 1329344	NM_170707.4(LMNA):c.370G>A (p.Glu124Lys)	LMNA, LOC126805877 (E124K +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 845817	NM_170707.4(LMNA):c.371A>G (p.Glu124Gly)	LMNA, LOC126805877 (E124G +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 760013	NM_170707.4(LMNA):c.372G>A (p.Glu124=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 66894	NM_170707.4(LMNA):c.373G>A (p.Gly125Ser)	LMNA, LOC126805877 (G125S +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1577186	NM_170707.4(LMNA):c.375T>C (p.Gly125=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1463668	NM_170707.4(LMNA):c.376G>A (p.Asp126Asn)	LMNA, LOC126805877 (D14N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2095000	NM_170707.4(LMNA):c.378C>T (p.Asp126=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 476828	NM_170707.4(LMNA):c.378C>A (p.Asp126Glu)	LOC126805877, LMNA (D126E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 222691	NM_170707.4(LMNA):c.378C>G (p.Asp126Glu)	LMNA, LOC126805877 (D126E +2 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1640627	NM_170707.4(LMNA):c.379C>T (p.Leu127=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1427183	NM_170707.4(LMNA):c.380T>C (p.Leu127Pro)	LMNA, LOC126805877 (L15P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 200956	NM_170707.4(LMNA):c.381_383delinsTGGTCACCTGAGAG (p.Ile128fs)	LMNA, LOC126805877 (I16fs +2 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2567286	NM_170707.4(LMNA):c.383dup (p.Ala129fs)	LOC126805877, LMNA (A129fs +3 more)	Duplication (frameshift variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 1171092	NM_170707.4(LMNA):c.382A>G (p.Ile128Val)	LMNA, LOC126805877 (I128V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 926737	NM_170707.4(LMNA):c.383T>C (p.Ile128Thr)	LMNA, LOC126805877 (I128T +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1707890	NM_170707.4(LMNA):c.384A>G (p.Ile128Met)	LMNA, LOC126805877 (I128M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 630017	NM_170707.4(LMNA):c.386C>A (p.Ala129Asp)	LMNA, LOC126805877 (A129D +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 3074864	NM_170707.4(LMNA):c.388G>T (p.Ala130Ser)	LOC126805877, LMNA (A130S +3 more)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 862581	NM_170707.4(LMNA):c.389C>A (p.Ala130Asp)	LMNA, LOC126805877 (A18D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 543228	NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)	LMNA, LOC126805877 (Q131* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1509209	NM_170707.4(LMNA):c.393G>C (p.Gln131His)	LMNA, LOC126805877 (Q131H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 66895	NM_170707.4(LMNA):c.394G>C (p.Ala132Pro)	LMNA, LOC126805877 (A132P +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2733992	NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)	LMNA, LOC126805877 (R34G +3 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 1962928	NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)	LMNA, LOC126805877 (R52W +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2005753	NM_170707.4(LMNA):c.405_425dup (p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu)	LMNA, LOC126805877	Duplication (inframe_insertion +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 200934	NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	LMNA, LOC126805877 (R133Q +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford syndrome +14 more	GConflicting classifications of pathogenicity
Select item 14508	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA, LOC126805877 (R133P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 14488	NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	LMNA, LOC126805877 (R133L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1929643	NM_170707.4(LMNA):c.400C>G (p.Leu134Val)	LMNA, LOC126805877 (L35V +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2505337	NM_170707.4(LMNA):c.401T>C (p.Leu134Pro)	LMNA, LOC126805877 (L134P +3 more)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 66896	NM_170707.4(LMNA):c.406G>C (p.Asp136His)	LMNA, LOC126805877 (D136H +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 245737	NM_170707.4(LMNA):c.408C>A (p.Asp136Glu)	LMNA, LOC126805877 (D136E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819882	NM_170707.4(LMNA):c.409C>T (p.Leu137=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 858277	NM_170707.4(LMNA):c.409C>G (p.Leu137Val)	LMNA, LOC126805877 (L25V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 246539	NM_170707.4(LMNA):c.410T>C (p.Leu137Pro)	LMNA, LOC126805877 (L137P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66897	NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)	LMNA, LOC126805877 (E138K +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66898	NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)	LMNA, LOC126805877 (L140P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 14507	NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)	LMNA, LOC126805877 (L140R +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford progeria syndrome, childhood-onset	GPathogenic
Select item 1364147	NM_170707.4(LMNA):c.422T>C (p.Leu141Pro)	LMNA, LOC126805877 (L141P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1555949	NM_170707.4(LMNA):c.423G>A (p.Leu141=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 408996	NM_170707.4(LMNA):c.424A>G (p.Asn142Asp)	LMNA, LOC126805877 (N142D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 66899	NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)	LMNA, LOC126805877 (S143P +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +3 more	GPathogenic/Likely pathogenic
Select item 14510	NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)	LOC126805877, LMNA (S143F +2 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GPathogenic
Select item 1390689	NM_170707.4(LMNA):c.430A>G (p.Lys144Glu)	LMNA, LOC126805877 (K144E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 476829	NM_170707.4(LMNA):c.430_432del (p.Lys144del)	LMNA, LOC126805877 (K144del +2 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2151903	NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)	LMNA, LOC126805877 (K63T +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2133284	NM_170707.4(LMNA):c.431A>G (p.Lys144Arg)	LMNA, LOC126805877 (K32R +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1187608	NM_170707.4(LMNA):c.433G>T (p.Glu145Ter)	LMNA, LOC126805877 (E145* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 14502	NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)	LMNA, LOC126805877 (E145K +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford progeria syndrome, atypical	GPathogenic
Select item 1130765	NM_170707.4(LMNA):c.435G>A (p.Glu145=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 48065	NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)	LMNA, LOC126805877 (A146T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 48066	NM_170707.4(LMNA):c.438C>T (p.Ala146=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1036090	NM_170707.4(LMNA):c.439G>T (p.Ala147Ser)	LMNA, LOC126805877 (A35S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1009498	NM_170707.4(LMNA):c.439G>A (p.Ala147Thr)	LOC126805877, LMNA (A147T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 430306	NM_170707.4(LMNA):c.439G>C (p.Ala147Pro)	LMNA, LOC126805877 (A147P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 245752	NM_170707.4(LMNA):c.443T>C (p.Leu148Pro)	LMNA, LOC126805877 (L148P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2136172	NM_170707.4(LMNA):c.445A>C (p.Ser149Arg)	LMNA, LOC126805877 (S50R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222692	NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)	LMNA, LOC126805877 (T150A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 48067	NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)	LOC126805877, LMNA (T150P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 228805	NM_170707.4(LMNA):c.449C>T (p.Thr150Ile)	LMNA, LOC126805877 (T150I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 2757500	NM_170707.4(LMNA):c.450_451del (p.Ala151fs)	LMNA, LOC126805877 (A39fs +3 more)	Deletion (frameshift variant +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2773536	NM_170707.4(LMNA):c.451G>A (p.Ala151Thr)	LMNA, LOC126805877 (A39T +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance
Select item 499181	NM_170707.4(LMNA):c.451G>C (p.Ala151Pro)	LMNA, LOC126805877 (A151P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345776	NM_170707.4(LMNA):c.454C>T (p.Leu152Phe)	LMNA, LOC126805877 (L152F +3 more)	Single nucleotide variant (missense variant +2 more)	LMNA-related disorder	GUncertain significance
Select item 2771336	NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)	LMNA, LOC126805877 (L152P +3 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2883981	NM_170707.4(LMNA):c.460G>A (p.Glu154Lys)	LMNA, LOC126805877 (E154K +3 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 435775	NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)	LMNA, LOC126805877	Deletion (inframe_indel)	Muscular dystrophy	GLikely pathogenic
Select item 200935	NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)	LMNA, LOC126805877 (R156C +2 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation +12 more	GUncertain significance
Select item 1172290	NM_170707.4(LMNA):c.467G>A (p.Arg156His)	LMNA, LOC126805877 (R156H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +16 more	GUncertain significance
Select item 1742460	NM_170707.4(LMNA):c.468C>T (p.Arg156=)	LMNA, LOC126805877	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3064138	NM_170707.4(LMNA):c.470delinsGCTGGA (p.Thr157fs)	LMNA, LOC126805877 (T157fs +3 more)	Indel (frameshift variant +2 more)	Congenital muscular dystrophy due to LMNA mutation	GLikely pathogenic

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