"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LMNA"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1076704	NM_170707.4(LMNA):c.1A>T (p.Met1Leu)	LMNA (M1L)	Single nucleotide variant (missense variant +1 more)	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 488705	NM_170707.4(LMNA):c.3G>A (p.Met1Ile)	LMNA (M1I)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GPathogenic
Select item 200949	NM_170707.4(LMNA):c.3G>T (p.Met1Ile)	LMNA (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 568051	NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)	LMNA (E2*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 1362553	NM_170707.4(LMNA):c.7A>G (p.Thr3Ala)	LMNA (T3A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 640649	NM_170707.4(LMNA):c.11dup (p.Ser5fs)	LMNA (S5fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 921978	NM_170707.4(LMNA):c.8C>A (p.Thr3Asn)	LMNA (T3N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +3 more	GUncertain significance
Select item 1706186	NM_170707.4(LMNA):c.10C>G (p.Pro4Ala)	LMNA (P4A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1058603	NM_170707.4(LMNA):c.10C>T (p.Pro4Ser)	LMNA (P4S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1501721	NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)	LMNA (P4Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +12 more	GConflicting classifications of pathogenicity
Select item 1393122	NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)	LMNA (P4L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 66795	NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)	LMNA (P4R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1159543	NM_170707.4(LMNA):c.12G>C (p.Pro4=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 378088	NM_170707.4(LMNA):c.12G>A (p.Pro4=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +16 more	GBenign/Likely benign
Select item 938501	NM_170707.4(LMNA):c.13del (p.Ser5fs)	LMNA (S5fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 939418	NM_170707.4(LMNA):c.16del (p.Gln6fs)	LMNA (Q6fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 700636	NM_170707.4(LMNA):c.15C>T (p.Ser5=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +2 more	GLikely benign
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)	Charcot-Marie-Tooth disease type 2 +14 more	GUncertain significance
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 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 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 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 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)	Primary dilated cardiomyopathy +1 more	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 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 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 586128	NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)	LMNA, LOC129931597 (S22L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +14 more	GConflicting classifications of pathogenicity
Select item 1174962	NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)	LMNA, LOC129931597 (T24I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +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 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)	Dilated cardiomyopathy 1A +2 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)	Cardiomyopathy +15 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 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 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 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 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 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 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)	LMNA, LOC129931597 (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=)	LOC129931597, LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 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 +1 more	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 543256	NM_170707.4(LMNA):c.96G>A (p.Lys32=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +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 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 66765	NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)	LMNA, LOC129931597 (L35P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1422153	NM_170707.4(LMNA):c.108G>T (p.Gln36His)	LMNA (Q36H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 519531	NM_170707.4(LMNA):c.109G>A (p.Glu37Lys)	LMNA (E37K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1718066	NM_170707.4(LMNA):c.110A>G (p.Glu37Gly)	LMNA (E37G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1301822	NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)	LMNA (L38F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1067826	NM_170707.4(LMNA):c.112C>G (p.Leu38Val)	LMNA (L38V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 2202857	NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)	LMNA (N39D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 935833	NM_170707.4(LMNA):c.115A>C (p.Asn39His)	LMNA (N39H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 649203	NM_170707.4(LMNA):c.116A>T (p.Asn39Ile)	LMNA (N39I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 66791	NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)	LMNA (N39S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 2098082	NM_170707.4(LMNA):c.117T>A (p.Asn39Lys)	LMNA (N39K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2785885	NM_170707.4(LMNA):c.118G>A (p.Asp40Asn)	LMNA (D40N)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2733990	NM_170707.4(LMNA):c.121C>T (p.Arg41Cys)	LMNA (R41C)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 648598	NM_170707.4(LMNA):c.121C>A (p.Arg41Ser)	LMNA (R41S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 447702	NM_170707.4(LMNA):c.122G>T (p.Arg41Leu)	LMNA (R41L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 408994	NM_170707.4(LMNA):c.122G>A (p.Arg41His)	LMNA (R41H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic

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