LMNA[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292823	NM_005572.3(LMNA):c.-226C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +10 more	GUncertain significance
Select item 292824	NM_005572.3(LMNA):c.-225C>A	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 874656	NM_005572.3(LMNA):c.-223C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 292825	NM_005572.3(LMNA):c.-210T>C	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +10 more	GUncertain significance
Select item 292826	NM_170707.4(LMNA):c.-183C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Lethal tight skin contracture syndrome +9 more	GUncertain significance
Select item 1245553	NM_170707.4(LMNA):c.-148C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1291232	NM_170707.4(LMNA):c.-147C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 292827	NM_170707.4(LMNA):c.-142C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Lethal tight skin contracture syndrome +9 more	GUncertain significance
Select item 292828	NM_170707.4(LMNA):c.-138T>C	LMNA	Single nucleotide variant (5 prime UTR variant)	Lethal tight skin contracture syndrome +10 more	GUncertain significance
Select item 292829	NM_170707.4(LMNA):c.-128T>C	LMNA	Single nucleotide variant (5 prime UTR variant)	Hutchinson-Gilford syndrome +10 more	GLikely benign
Select item 292830	NM_170707.4(LMNA):c.-109G>T	LMNA	Single nucleotide variant (5 prime UTR variant)	Hutchinson-Gilford syndrome +9 more	GUncertain significance
Select item 1269019	NM_170707.4(LMNA):c.-98G>C	LMNA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 292831	NM_170707.4(LMNA):c.-88G>T	LMNA	Single nucleotide variant (5 prime UTR variant)	Lethal tight skin contracture syndrome +12 more	GBenign/Likely benign
Select item 292832	NM_170707.4(LMNA):c.-62C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Hutchinson-Gilford syndrome +9 more	GUncertain significance
Select item 873801	NM_170707.4(LMNA):c.-44T>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 517741	NM_170707.4(LMNA):c.-42C>T	LMNA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 512853	NM_170707.4(LMNA):c.-28C>T	LMNA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3336986	NM_170707.4(LMNA):c.-17C>A	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2773531	NM_170707.4(LMNA):c.-14C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 517211	NM_170707.4(LMNA):c.-12A>T	LMNA	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3071027	NM_170707.4(LMNA):c.-11A>G	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071234	NM_170707.4(LMNA):c.-6C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 66757	NM_170707.4(LMNA):c.-3_12del (p.Met1_Pro4del)	LMNA	Deletion (inframe_deletion +1 more)	not provided	Gnot provided
Select item 3070453	NM_170707.4(LMNA):c.-5C>G	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 292833	NM_170707.4(LMNA):c.-5C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Lethal tight skin contracture syndrome +9 more	GUncertain significance
Select item 924308	NM_170707.4(LMNA):c.-4G>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 286271	NM_170707.4(LMNA):c.-1C>A	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Heart-hand syndrome, Slovenian type +12 more	GUncertain significance
Select item 3229277	NM_170707.4(LMNA):c.1A>G (p.Met1Val)	LMNA (M1V)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	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 2488942	NM_170707.4(LMNA):c.2T>A (p.Met1Lys)	LMNA (M1K)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	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 245838	NM_170707.4(LMNA):c.3G>C (p.Met1Ile)	LMNA (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 200949	NM_170707.4(LMNA):c.3G>T (p.Met1Ile)	LMNA (M1I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2587213	NM_170707.4(LMNA):c.4G>A (p.Glu2Lys)	LMNA (E2K)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 568051	NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)	LMNA (E2*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +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)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1706186	NM_170707.4(LMNA):c.10C>G (p.Pro4Ala)	LMNA (P4A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +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	GLikely pathogenic
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)	Charcot-Marie-Tooth disease +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)	Cardiovascular phenotype +1 more	GLikely benign
Select item 66770	NM_170707.4(LMNA):c.106C>T (p.Gln36Ter)	LMNA (Q36*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 2433481	NM_170707.4(LMNA):c.107A>C (p.Gln36Pro)	LMNA (Q36P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Cardiovascular phenotype +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 263718	NM_170707.4(LMNA):c.111G>A (p.Glu37=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
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 561053	NM_170707.4(LMNA):c.113T>A (p.Leu38His)	LMNA (L38H)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GUncertain significance
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 66788	NM_170707.4(LMNA):c.115A>T (p.Asn39Tyr)	LMNA (N39Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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)	LMNA-related disorder +2 more	GPathogenic
Select item 2431242	NM_170707.4(LMNA):c.117T>G (p.Asn39Lys)	LMNA (N39K)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GUncertain significance
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 (missense 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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806240	NM_170707.4(LMNA):c.122G>C (p.Arg41Pro)	LMNA (R41P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 447702	NM_170707.4(LMNA):c.122G>T (p.Arg41Leu)	LMNA (R41L)	Single nucleotide variant (missense variant)	not specified +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
Select item 2040366	NM_170707.4(LMNA):c.124T>C (p.Leu42=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1479657	NM_170707.4(LMNA):c.125T>C (p.Leu42Ser)	LMNA (L42S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 66799	NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)	LMNA (A43T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1457766	NM_170707.4(LMNA):c.128C>A (p.Ala43Glu)	LMNA (A43E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2796167	NM_170707.4(LMNA):c.129G>C (p.Ala43=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 374201	NM_170707.4(LMNA):c.130G>T (p.Val44Phe)	LMNA (V44F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1541517	NM_170707.4(LMNA):c.132C>T (p.Val44=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1027845	NM_170707.4(LMNA):c.133T>C (p.Tyr45His)	LMNA (Y45H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 66807	NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)	LMNA (Y45C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1453621	NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter)	LMNA (Y45*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 853568	NM_170707.4(LMNA):c.136A>C (p.Ile46Leu)	LMNA (I46L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 66815	NM_170707.4(LMNA):c.136A>G (p.Ile46Val)	LMNA (I46V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 408992	NM_170707.4(LMNA):c.137T>A (p.Ile46Asn)	LMNA (I46N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 543260	NM_170707.4(LMNA):c.138C>T (p.Ile46=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2571950	NM_170707.4(LMNA):c.139G>T (p.Asp47Tyr)	LMNA (D47Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 285548	NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)	LMNA (D47N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66822	NM_170707.4(LMNA):c.139G>C (p.Asp47His)	LMNA (D47H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1121061	NM_170707.4(LMNA):c.141C>T (p.Asp47=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 922176	NM_170707.4(LMNA):c.141C>A (p.Asp47Glu)	LMNA (D47E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1386753	NM_170707.4(LMNA):c.142C>G (p.Arg48Gly)	LMNA (R48G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 2873499	NM_170707.4(LMNA):c.143G>A (p.Arg48His)	LMNA (R48H)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 655012	NM_170707.4(LMNA):c.143G>T (p.Arg48Leu)	LMNA (R48L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 646027	NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	LMNA (R48P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1709835	NM_170707.4(LMNA):c.145G>T (p.Val49Leu)	LMNA (V49L)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GUncertain significance
Select item 246300	NM_170707.4(LMNA):c.145G>C (p.Val49Leu)	LMNA (V49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1586432	NM_170707.4(LMNA):c.147G>A (p.Val49=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2433478	NM_170707.4(LMNA):c.148C>G (p.Arg50Gly)	LMNA (R50G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95288	NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)	LMNA (R50C)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation +1 more	GConflicting classifications of pathogenicity
Select item 66835	NM_170707.4(LMNA):c.148C>A (p.Arg50Ser)	LMNA (R50S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 519299	NM_170707.4(LMNA):c.149G>A (p.Arg50His)	LMNA (R50H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance

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