"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LMNA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	not provided +12 more	GUncertain significance
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 378088	NM_170707.4(LMNA):c.12G>A (p.Pro4=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +16 more	GBenign/Likely benign
Select item 408991	NM_170707.4(LMNA):c.20G>A (p.Arg7Gln)	LMNA, LOC129931597 (R7Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 864820	NM_170707.4(LMNA):c.23G>A (p.Arg8His)	LMNA, LOC129931597 (R8H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 919987	NM_170707.4(LMNA):c.24C>A (p.Arg8=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2140137	NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)	LMNA, LOC129931597 (A9T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2720984	NM_170707.4(LMNA):c.39G>A (p.Gly13=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy +2 more	GLikely benign
Select item 519518	NM_170707.4(LMNA):c.42G>A (p.Ala14=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 36479	NM_170707.4(LMNA):c.51C>T (p.Ser17=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B1 +20 more	GBenign/Likely benign
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 2773532	NM_170707.4(LMNA):c.72C>G (p.Thr24=)	LOC129931597, LMNA	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy	GLikely benign
Select item 245817	NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)	LMNA, LOC129931597 (R25L)	Single nucleotide variant (missense variant)	not provided +4 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 48083	NM_170707.4(LMNA):c.78C>T (p.Ile26=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 543256	NM_170707.4(LMNA):c.96G>A (p.Lys32=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +14 more	GLikely benign
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 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 922176	NM_170707.4(LMNA):c.141C>A (p.Asp47Glu)	LMNA (D47E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 48040	NM_170707.4(LMNA):c.150C>T (p.Arg50=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 513856	NM_170707.4(LMNA):c.153G>T (p.Ser51=)	LMNA	Single nucleotide variant (synonymous variant)	not specified +16 more	GLikely benign
Select item 245899	NM_170707.4(LMNA):c.161C>T (p.Thr54Met)	LMNA (T54M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +14 more	GUncertain significance
Select item 918434	NM_170707.4(LMNA):c.162G>A (p.Thr54=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 924837	NM_170707.4(LMNA):c.165G>A (p.Glu55=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 282772	NM_170707.4(LMNA):c.192C>T (p.Thr64=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 925555	NM_170707.4(LMNA):c.202G>A (p.Glu68Lys)	LMNA (E68K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 919251	NM_170707.4(LMNA):c.206T>C (p.Val69Ala)	LMNA (V69A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1924297	NM_170707.4(LMNA):c.207G>A (p.Val69=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 924996	NM_170707.4(LMNA):c.215G>A (p.Arg72His)	LMNA (R72H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1171876	NM_170707.4(LMNA):c.226G>A (p.Gly76Ser)	LMNA (G76S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 923258	NM_170707.4(LMNA):c.237C>T (p.Ala79=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 629530	NM_170707.4(LMNA):c.249C>T (p.Ala83=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 924243	NM_170707.4(LMNA):c.273C>T (p.Thr91=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 543178	NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)	LMNA (A96S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +14 more	GUncertain significance
Select item 408995	NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)	LMNA (K97T)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +16 more	GConflicting classifications of pathogenicity
Select item 925242	NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)	LMNA (E98G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +13 more	GUncertain significance
Select item 926460	NM_170707.4(LMNA):c.300C>G (p.Ala100=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 290438	NM_170707.4(LMNA):c.302G>A (p.Arg101His)	LMNA (R101H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 424916	NM_170707.4(LMNA):c.328C>A (p.Arg110Ser)	LMNA (R110S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 522979	NM_170707.4(LMNA):c.329G>A (p.Arg110His)	LMNA (R110H)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 520446	NM_170707.4(LMNA):c.334G>A (p.Glu112Lys)	LMNA (E112K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 2773534	NM_170707.4(LMNA):c.336G>A (p.Glu112=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy	GLikely benign
Select item 227506	NM_170707.4(LMNA):c.346C>T (p.Leu116=)	LMNA	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 48063	NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	LMNA (K117R)	Single nucleotide variant (missense variant)	not specified +13 more	GConflicting classifications of pathogenicity
Select item 1063231	NM_170707.4(LMNA):c.355C>T (p.Arg119Cys)	LMNA (R119C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
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)	Cardiomyopathy +1 more	GLikely benign
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +17 more	GConflicting classifications of pathogenicity
Select item 1312287	NM_170707.4(LMNA):c.364A>G (p.Lys122Glu)	LMNA, LOC126805877 (K10E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 923835	NM_170707.4(LMNA):c.369G>A (p.Lys123=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiomyopathy +14 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 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 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 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 200934	NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	LOC126805877, LMNA (R133Q +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +14 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 provided +6 more	GBenign/Likely benign
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 1172290	NM_170707.4(LMNA):c.467G>A (p.Arg156His)	LMNA, LOC126805877 (R156H +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford syndrome +16 more	GUncertain significance
Select item 200936	NM_170707.4(LMNA):c.471G>A (p.Thr157=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1A +14 more	GConflicting classifications of pathogenicity
Select item 926602	NM_170707.4(LMNA):c.480C>A (p.Gly160=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 519479	NM_170707.4(LMNA):c.480C>T (p.Gly160=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 163865	NM_170707.4(LMNA):c.486G>A (p.Leu162=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 921469	NM_170707.4(LMNA):c.488A>G (p.His163Arg)	LMNA, LOC126805877 (H82R +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 576229	NM_170707.4(LMNA):c.489T>G (p.His163Gln)	LMNA, LOC126805877 (H163Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 574040	NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)	LMNA, LOC126805877 (R166W +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +14 more	GConflicting classifications of pathogenicity
Select item 163866	NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)	LMNA, LOC126805877 (R166Q +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +16 more	GConflicting classifications of pathogenicity
Select item 2773537	NM_170707.4(LMNA):c.503A>G (p.Gln168Arg)	LMNA, LOC126805877 (Q56R +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance
Select item 918198	NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)	LMNA, LOC126805877 (K171E +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +13 more	GUncertain significance
Select item 919324	NM_170707.4(LMNA):c.513+8del	LMNA, LOC126805877	Deletion (intron variant)	Cardiomyopathy	GLikely benign
Select item 920552	NM_170707.4(LMNA):c.514-7dup	LMNA	Duplication (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 927619	NM_170707.4(LMNA):c.521C>A (p.Ala174Glu)	LMNA (A174E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 499383	NM_170707.4(LMNA):c.528A>T (p.Leu176=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 919687	NM_170707.4(LMNA):c.536C>A (p.Ala179Asp)	LMNA (A179D +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 927210	NM_170707.4(LMNA):c.537C>T (p.Ala179=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 918741	NM_170707.4(LMNA):c.554A>T (p.Asp185Val)	LMNA (D73V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 66906	NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)	LMNA (R189W +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +15 more	GUncertain significance
Select item 392479	NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)	LMNA (R189Q +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +15 more	GUncertain significance
Select item 66910	NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	LMNA (R190Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GPathogenic/Likely pathogenic
Select item 519381	NM_170707.4(LMNA):c.579T>C (p.Ala193=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 288954	NM_170707.4(LMNA):c.591G>A (p.Leu197=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1332196	NM_170707.4(LMNA):c.606G>A (p.Glu202=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 519420	NM_170707.4(LMNA):c.610C>G (p.Leu204Val)	LMNA (L204V +2 more)	Single nucleotide variant (missense variant)	not provided +14 more	GUncertain significance
Select item 48071	NM_170707.4(LMNA):c.612G>A (p.Leu204=)	LMNA	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +17 more	GBenign/Likely benign
Select item 919019	NM_170707.4(LMNA):c.624G>A (p.Lys208=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 179533	NM_170707.4(LMNA):c.640-11A>C	LMNA	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 920403	NM_170707.4(LMNA):c.640-8C>G	LMNA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 197255	NM_170707.4(LMNA):c.643C>T (p.Leu215=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 200964	NM_170707.4(LMNA):c.647G>A (p.Arg216His)	LMNA (R216H +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +16 more	GConflicting classifications of pathogenicity
Select item 264626	NM_170707.4(LMNA):c.658C>T (p.Arg220Cys)	LMNA (R220C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 856653	NM_170707.4(LMNA):c.659G>A (p.Arg220His)	LMNA (R108H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 921773	NM_170707.4(LMNA):c.660C>T (p.Arg220=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 41234	NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)	LMNA (R225Q +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 918435	NM_170707.4(LMNA):c.678G>A (p.Leu226=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +3 more	GLikely benign
Select item 180115	NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)	LMNA (I229T +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 853705	NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)	LMNA (N150S +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +15 more	GUncertain significance

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