LOC129931597[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 543299	NC_000001.11:g.(?_156114899)_(156126243_?)del	LMNA, LOC120893162 +3 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 655760	NC_000001.11:g.(?_156114909)_(156115284_?)del	LMNA, LOC129931597	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2690636	NM_170707.4(LMNA):c.-1_22del (p.Met1fs)	LMNA, LOC129931597 (M1fs)	Deletion (frameshift variant +3 more)	not provided	GLikely pathogenic
Select item 665025	NC_000001.11:g.(?_156114919)_(156243162_?)del	BGLAP, LMNA +23 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 180106	NM_170707.2(LMNA):c.(?_1)_(356_?)del	LMNA, LOC129931597	Deletion	Primary dilated cardiomyopathy +1 more	GPathogenic
Select item 14477	NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	LMNA, LOC129931597 (Q6*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GPathogenic
Select item 1478493	NM_170707.4(LMNA):c.19C>T (p.Arg7Trp)	LMNA, LOC129931597 (R7W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 408991	NM_170707.4(LMNA):c.20G>A (p.Arg7Gln)	LMNA, LOC129931597 (R7Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 2918764	NM_170707.4(LMNA):c.21G>A (p.Arg7=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1088696	NM_170707.4(LMNA):c.21G>C (p.Arg7=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2000946	NM_170707.4(LMNA):c.22C>A (p.Arg8Ser)	LMNA, LOC129931597 (R8S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1486547	NM_170707.4(LMNA):c.22C>T (p.Arg8Cys)	LMNA, LOC129931597 (R8C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1041658	NM_170707.4(LMNA):c.22C>G (p.Arg8Gly)	LMNA, LOC129931597 (R8G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 864820	NM_170707.4(LMNA):c.23G>A (p.Arg8His)	LMNA, LOC129931597 (R8H)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 3341982	NM_170707.4(LMNA):c.24C>T (p.Arg8=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 919987	NM_170707.4(LMNA):c.24C>A (p.Arg8=)	LOC129931597, LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 2140137	NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)	LMNA, LOC129931597 (A9T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2114104	NM_170707.4(LMNA):c.25G>C (p.Ala9Pro)	LMNA, LOC129931597 (A9P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 66887	NM_170707.4(LMNA):c.28dup (p.Thr10fs)	LMNA, LOC129931597 (T10fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 1943785	NM_170707.4(LMNA):c.28A>C (p.Thr10Pro)	LMNA, LOC129931597 (T10P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 66890	NM_170707.4(LMNA):c.31del (p.Arg11fs)	LMNA, LOC129931597 (R11fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 66888	NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)	LMNA, LOC129931597 (T10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2567287	NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)	LMNA, LOC129931597 (R11C)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1014606	NM_170707.4(LMNA):c.32G>T (p.Arg11Leu)	LMNA, LOC129931597 (R11L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2848761	NM_170707.4(LMNA):c.40del (p.Ala14fs)	LMNA, LOC129931597 (A14fs)	Deletion (frameshift variant +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 915588	NM_170707.4(LMNA):c.37G>A (p.Gly13Arg)	LMNA, LOC129931597 (G13R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2720984	NM_170707.4(LMNA):c.39G>A (p.Gly13=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 1904542	NM_170707.4(LMNA):c.40G>A (p.Ala14Thr)	LMNA, LOC129931597 (A14T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1256329	NM_170707.4(LMNA):c.41C>A (p.Ala14Glu)	LMNA, LOC129931597 (A14E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 519518	NM_170707.4(LMNA):c.42G>A (p.Ala14=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 1457765	NM_170707.4(LMNA):c.43C>T (p.Gln15Ter)	LMNA, LOC129931597 (Q15*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1038105	NM_170707.4(LMNA):c.44A>C (p.Gln15Pro)	LMNA, LOC129931597 (Q15P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3073604	NM_170707.4(LMNA):c.46G>T (p.Ala16Ser)	LMNA, LOC129931597 (A16S)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2843506	NM_170707.4(LMNA):c.47C>T (p.Ala16Val)	LMNA, LOC129931597 (A16V)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1350707	NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)	LMNA, LOC129931597 (A16D)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +12 more	GUncertain significance
Select item 193316	NM_170707.4(LMNA):c.48del (p.Ser17fs)	LMNA, LOC129931597 (S17fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 543212	NM_170707.4(LMNA):c.52_53dup (p.Thr19fs)	LMNA, LOC129931597 (T19fs)	Duplication (frameshift variant)	Primary dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 36479	NM_170707.4(LMNA):c.51C>T (p.Ser17=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +20 more	GBenign/Likely benign
Select item 2970150	NM_170707.4(LMNA):c.55A>T (p.Thr19Ser)	LMNA, LOC129931597 (T19S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1749770	NM_170707.4(LMNA):c.57T>C (p.Thr19=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3071261	NM_170707.4(LMNA):c.58C>T (p.Pro20Ser)	LMNA, LOC129931597 (P20S)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2754208	NM_170707.4(LMNA):c.70_71insGCCGGGTGCGCTGTCGCCCA (p.Thr24fs)	LMNA, LOC129931597 (T24fs)	Insertion (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 523026	NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)	LMNA, LOC129931597 (P20L)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation +1 more	GConflicting classifications of pathogenicity
Select item 870604	NM_170707.4(LMNA):c.62T>C (p.Leu21Pro)	LMNA, LOC129931597 (L21P)	Single nucleotide variant (missense variant)	Relative macrocephaly +3 more	GUncertain significance
Select item 200950	NM_170707.4(LMNA):c.64T>G (p.Ser22Ala)	LMNA, LOC129931597 (S22A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1323240	NM_170707.4(LMNA):c.65del (p.Ser22fs)	LMNA, LOC129931597 (S22fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 586128	NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)	LMNA, LOC129931597 (S22L)	Single nucleotide variant (missense variant)	not provided +14 more	GConflicting classifications of pathogenicity
Select item 287839	NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs)	LMNA, LOC129931597 (S22fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1754985	NM_170707.4(LMNA):c.66G>A (p.Ser22=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 287786	NM_170707.4(LMNA):c.66G>T (p.Ser22=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1174962	NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)	LMNA, LOC129931597 (T24I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GUncertain significance
Select item 644974	NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)	LMNA, LOC129931597 (T24S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 573981	NM_170707.4(LMNA):c.73del (p.Arg25fs)	LMNA, LOC129931597 (R25fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2773532	NM_170707.4(LMNA):c.72C>G (p.Thr24=)	LOC129931597, LMNA	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy	GLikely benign
Select item 917549	NM_170707.4(LMNA):c.72C>T (p.Thr24=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 66929	NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)	LMNA, LOC129931597 (R25C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic
Select item 66928	NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)	LMNA, LOC129931597 (R25G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 2756520	NM_170707.4(LMNA):c.74G>A (p.Arg25His)	LMNA, LOC129931597 (R25H)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 245817	NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)	LMNA, LOC129931597 (R25L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 66932	NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)	LMNA, LOC129931597 (R25P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 286446	NM_170707.4(LMNA):c.75C>T (p.Arg25=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2773533	NM_170707.4(LMNA):c.76A>C (p.Ile26Leu)	LMNA, LOC129931597 (I26L)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance
Select item 1720742	NM_170707.4(LMNA):c.76A>G (p.Ile26Val)	LMNA, LOC129931597 (I26V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 200951	NM_170707.4(LMNA):c.77T>C (p.Ile26Thr)	LMNA, LOC129931597 (I26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48083	NM_170707.4(LMNA):c.78C>T (p.Ile26=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 804298	NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)	LOC129931597, LMNA (T27I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +1 more	GLikely pathogenic
Select item 217834	NM_170707.4(LMNA):c.80C>G (p.Thr27Ser)	LMNA, LOC129931597 (T27S)	Single nucleotide variant (missense variant)	Paroxysmal familial ventricular fibrillation +1 more	GUncertain significance
Select item 225065	NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)	LMNA, LOC129931597 (R28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 66946	NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)	LMNA, LOC129931597 (R28W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 285468	NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	LMNA, LOC129931597 (R28Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 2763593	NM_170707.4(LMNA):c.87G>T (p.Leu29=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1442001	NM_170707.4(LMNA):c.88C>G (p.Gln30Glu)	LMNA, LOC129931597 (Q30E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2431241	NM_170707.4(LMNA):c.89A>C (p.Gln30Pro)	LMNA, LOC129931597 (Q30P)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GUncertain significance
Select item 218376	NM_170707.4(LMNA):c.91_93del (p.Glu31del)	LMNA, LOC129931597 (E31del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2431240	NM_170707.4(LMNA):c.91del (p.Glu31fs)	LMNA, LOC129931597 (E31fs)	Deletion (frameshift variant)	Congenital muscular dystrophy due to LMNA mutation	GUncertain significance
Select item 1147828	NM_170707.4(LMNA):c.90G>A (p.Gln30=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1516417	NM_170707.4(LMNA):c.91_92delinsAG (p.Glu31Arg)	LMNA, LOC129931597 (E31R)	Indel (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 573778	NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)	LOC129931597, LMNA (E31K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 944168	NM_170707.4(LMNA):c.92A>G (p.Glu31Gly)	LMNA, LOC129931597 (E31G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 66960	NM_170707.4(LMNA):c.94_96del (p.Lys32del)	LMNA, LOC129931597 (K32del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 242006	NM_170707.4(LMNA):c.93G>A (p.Glu31=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 655996	NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)	LMNA, LOC129931597 (K32*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 476837	NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)	LMNA, LOC129931597 (K32E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2733989	NM_170707.4(LMNA):c.96GGA[1] (p.Glu33del)	LMNA, LOC129931597 (E33del)	Microsatellite (inframe_deletion +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2503449	NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)	LMNA, LOC129931597 (K32T)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to LMNA mutation	GPathogenic
Select item 543256	NM_170707.4(LMNA):c.96G>A (p.Lys32=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +14 more	GLikely benign
Select item 2047580	NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)	LMNA, LOC129931597 (E33Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 66962	NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	LMNA, LOC129931597 (E33G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 66965	NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)	LMNA, LOC129931597 (E33D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66964	NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)	LMNA, LOC129931597 (E33D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 282819	NM_170707.4(LMNA):c.100G>A (p.Asp34Asn)	LMNA, LOC129931597 (D34N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857510	NM_170707.4(LMNA):c.102C>T (p.Asp34=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1773692	NM_170707.4(LMNA):c.103C>T (p.Leu35=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 66761	NM_170707.4(LMNA):c.103C>G (p.Leu35Val)	LMNA, LOC129931597 (L35V)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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