"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 245817	NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)	LMNA, LOC129931597 (R25L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
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 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 48040	NM_170707.4(LMNA):c.150C>T (p.Arg50=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +5 more	GLikely benign
Select item 513856	NM_170707.4(LMNA):c.153G>T (p.Ser51=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +16 more	GLikely benign
Select item 245899	NM_170707.4(LMNA):c.161C>T (p.Thr54Met)	LMNA (T54M)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +14 more	GUncertain significance
Select item 3073807	NM_170707.4(LMNA):c.173G>T (p.Gly58Val)	LMNA (G58V)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070238	NM_170707.4(LMNA):c.174G>T (p.Gly58=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072217	NM_170707.4(LMNA):c.189C>T (p.Ile63=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070790	NM_170707.4(LMNA):c.190A>G (p.Thr64Ala)	LMNA (T64A)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 282772	NM_170707.4(LMNA):c.192C>T (p.Thr64=)	LMNA	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1956573	NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)	LMNA (E65K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 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 1924297	NM_170707.4(LMNA):c.207G>A (p.Val69=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
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 3072146	NM_170707.4(LMNA):c.235G>A (p.Ala79Thr)	LMNA (A79T)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 519114	NM_170707.4(LMNA):c.236C>A (p.Ala79Asp)	LMNA (A79D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 669089	NM_170707.4(LMNA):c.240C>T (p.Ala80=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 629530	NM_170707.4(LMNA):c.249C>T (p.Ala83=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 860145	NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)	LMNA (T91I)	Single nucleotide variant (missense variant)	not provided +13 more	GUncertain significance
Select item 3069887	NM_170707.4(LMNA):c.273C>A (p.Thr91=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 543178	NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)	LMNA (A96S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +14 more	GUncertain significance
Select item 408995	NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)	LMNA (K97T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +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)	Dilated cardiomyopathy 1A +13 more	GUncertain significance
Select item 292834	NM_170707.4(LMNA):c.294G>A (p.Glu98=)	LMNA	Single nucleotide variant (synonymous variant)	Lethal tight skin contracture syndrome +12 more	GConflicting classifications of pathogenicity
Select item 3074892	NM_170707.4(LMNA):c.295C>G (p.Arg99Gly)	LMNA (R99G)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 292835	NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)	LMNA (R99S)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation +12 more	GUncertain significance
Select item 3069427	NM_170707.4(LMNA):c.302G>T (p.Arg101Leu)	LMNA (R101L)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070890	NM_170707.4(LMNA):c.306G>A (p.Leu102=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3071859	NM_170707.4(LMNA):c.320G>A (p.Ser107Asn)	LMNA (S107N)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 424916	NM_170707.4(LMNA):c.328C>A (p.Arg110Ser)	LMNA (R110S)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 522979	NM_170707.4(LMNA):c.329G>A (p.Arg110His)	LMNA (R110H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 227506	NM_170707.4(LMNA):c.346C>T (p.Leu116=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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)	Mandibuloacral dysplasia with type A lipodystrophy +14 more	GConflicting classifications of pathogenicity
Select item 3070462	NM_170707.4(LMNA):c.357-9C>A	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1142681	NM_170707.4(LMNA):c.357-8T>C	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 923835	NM_170707.4(LMNA):c.369G>A (p.Lys123=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +14 more	GLikely benign
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 3074864	NM_170707.4(LMNA):c.388G>T (p.Ala130Ser)	LOC126805877, LMNA (A130S +3 more)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 200934	NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	LMNA, LOC126805877 (R133Q +2 more)	Single nucleotide variant (missense variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +14 more	GConflicting classifications of pathogenicity
Select item 66899	NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)	LMNA, LOC126805877 (S143P +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +3 more	GPathogenic/Likely pathogenic
Select item 48066	NM_170707.4(LMNA):c.438C>T (p.Ala146=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +5 more	GBenign/Likely benign
Select item 1009498	NM_170707.4(LMNA):c.439G>A (p.Ala147Thr)	LOC126805877, LMNA (A147T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 222692	NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)	LMNA, LOC126805877 (T150A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1172290	NM_170707.4(LMNA):c.467G>A (p.Arg156His)	LMNA, LOC126805877 (R156H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +16 more	GUncertain significance
Select item 245861	NM_170707.4(LMNA):c.470C>G (p.Thr157Arg)	LMNA, LOC126805877 (T157R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 14504	NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	LMNA, LOC126805877 (E161K +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +6 more	GPathogenic/Likely pathogenic
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 945868	NM_170707.4(LMNA):c.491A>G (p.Asp164Gly)	LMNA, LOC126805877 (D52G +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +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)	Cardiovascular phenotype +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)	Cardiovascular phenotype +16 more	GConflicting classifications of pathogenicity
Select item 918198	NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)	LMNA, LOC126805877 (K171E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +13 more	GUncertain significance
Select item 200957	NM_170707.4(LMNA):c.522del (p.Ala175fs)	LMNA (A94fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 499383	NM_170707.4(LMNA):c.528A>T (p.Leu176=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 3071892	NM_170707.4(LMNA):c.536C>T (p.Ala179Val)	LMNA (A179V +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3069270	NM_170707.4(LMNA):c.536C>G (p.Ala179Gly)	LMNA (A179G +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074592	NM_170707.4(LMNA):c.539A>G (p.Lys180Arg)	LMNA (K68R +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1382049	NM_170707.4(LMNA):c.540G>A (p.Lys180=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 3072945	NM_170707.4(LMNA):c.562C>T (p.Leu188=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2188589	NM_170707.4(LMNA):c.564G>A (p.Leu188=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 66906	NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)	LMNA (R189W +2 more)	Single nucleotide variant (missense variant)	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)	Primary dilated cardiomyopathy +15 more	GUncertain significance
Select item 66908	NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)	LMNA (R190W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GPathogenic
Select item 519381	NM_170707.4(LMNA):c.579T>C (p.Ala193=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +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 640948	NM_170707.4(LMNA):c.598A>G (p.Met200Val)	LMNA (M200V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 48071	NM_170707.4(LMNA):c.612G>A (p.Leu204=)	LMNA	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1A +17 more	GBenign/Likely benign
Select item 3017439	NM_170707.4(LMNA):c.615C>T (p.Asp205=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 915590	NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)	LMNA (Y99C +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 179533	NM_170707.4(LMNA):c.640-11A>C	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 3070767	NM_170707.4(LMNA):c.640-7del	LMNA	Deletion (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2741770	NM_170707.4(LMNA):c.640-7C>G	LMNA	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 197255	NM_170707.4(LMNA):c.643C>T (p.Leu215=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	not provided +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)	Primary dilated cardiomyopathy +4 more	GUncertain significance
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 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)	Cardiovascular phenotype +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)	Familial partial lipodystrophy, Dunnigan type +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
Select item 1389121	NM_170707.4(LMNA):c.703C>T (p.Arg235Cys)	LMNA (R123C +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 408986	NM_170707.4(LMNA):c.704G>A (p.Arg235His)	LMNA (R235H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
Select item 279839	NM_170707.4(LMNA):c.718C>T (p.Arg240Trp)	LMNA (R240W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance

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