6636[HGNC] - 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 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)	Charcot-Marie-Tooth disease type 2 +9 more	GUncertain significance
Select item 874656	NM_005572.3(LMNA):c.-223C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +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)	Congenital muscular dystrophy due to LMNA mutation +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 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 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 655760	NC_000001.11:g.(?_156114909)_(156115284_?)del	LMNA, LOC129931597	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
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 2690636	NM_170707.4(LMNA):c.-1_22del (p.Met1fs)	LMNA, LOC129931597 (M1fs)	Deletion (frameshift variant +3 more)	not provided	GLikely pathogenic
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)	Familial partial lipodystrophy, Dunnigan 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 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 2488942	NM_170707.4(LMNA):c.2T>A (p.Met1Lys)	LMNA (M1K)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	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)	not provided +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)	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)	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)	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	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 type 2 +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 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)	Familial partial lipodystrophy, Dunnigan type +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

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