"Ambry Genetics"[submitter] AND "LMNA"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 372

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 378088	NM_170707.4(LMNA):c.12G>A (p.Pro4=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
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)	Cardiovascular phenotype +2 more	GUncertain significance
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)	not provided +20 more	GBenign/Likely benign
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 1754985	NM_170707.4(LMNA):c.66G>A (p.Ser22=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1174962	NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)	LMNA, LOC129931597 (T24I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +13 more	GUncertain significance
Select item 644974	NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)	LMNA, LOC129931597 (T24S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 66929	NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)	LMNA, LOC129931597 (R25C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 245817	NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)	LMNA, LOC129931597 (R25L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 48083	NM_170707.4(LMNA):c.78C>T (p.Ile26=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 225065	NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)	LMNA, LOC129931597 (R28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 543256	NM_170707.4(LMNA):c.96G>A (p.Lys32=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Cardiomyopathy +14 more	GLikely benign
Select item 1773692	NM_170707.4(LMNA):c.103C>T (p.Leu35=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 519531	NM_170707.4(LMNA):c.109G>A (p.Glu37Lys)	LMNA (E37K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 263718	NM_170707.4(LMNA):c.111G>A (p.Glu37=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 543260	NM_170707.4(LMNA):c.138C>T (p.Ile46=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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
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 1780164	NM_170707.4(LMNA):c.178C>A (p.Arg60Ser)	LMNA (R60S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1029259	NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)	LMNA (I63L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GConflicting classifications of pathogenicity
Select item 663188	NM_170707.4(LMNA):c.191C>A (p.Thr64Asn)	LMNA (T64N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 263426	NM_170707.4(LMNA):c.207G>C (p.Val69=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1786377	NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)	LMNA (S71I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 177823	NM_170707.4(LMNA):c.215G>T (p.Arg72Leu)	LMNA (R72L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519114	NM_170707.4(LMNA):c.236C>A (p.Ala79Asp)	LMNA (A79D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1791472	NM_170707.4(LMNA):c.244G>T (p.Glu82Ter)	LMNA (E82*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 200953	NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)	LMNA (E84K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2587214	NM_170707.4(LMNA):c.251A>G (p.Glu84Gly)	LMNA (E84G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 14480	NM_170707.4(LMNA):c.254T>G (p.Leu85Arg)	LMNA (L85R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1793357	NM_170707.4(LMNA):c.257G>A (p.Gly86Glu)	LMNA (G86E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 66885	NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)	LMNA (L92F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 408995	NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)	LMNA (K97T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +16 more	GConflicting classifications of pathogenicity
Select item 520647	NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)	LMNA (L102P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2452986	NM_170707.4(LMNA):c.313G>A (p.Glu105Lys)	LMNA (E105K)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 227506	NM_170707.4(LMNA):c.346C>T (p.Leu116=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1732137	NM_170707.4(LMNA):c.350A>C (p.Lys117Thr)	LMNA (K117T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 48063	NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	LMNA (K117R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GConflicting classifications of pathogenicity
Select item 1142681	NM_170707.4(LMNA):c.357-8T>C	LMNA, LOC126805877	Single nucleotide variant (intron variant)	LMNA-related condition +3 more	GLikely benign
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +17 more	GConflicting classifications of pathogenicity
Select item 1113335	NM_170707.4(LMNA):c.366G>A (p.Lys122=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2587216	NM_170707.4(LMNA):c.369G>T (p.Lys123Asn)	LMNA, LOC126805877 (K123N +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	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 760013	NM_170707.4(LMNA):c.372G>A (p.Glu124=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2567286	NM_170707.4(LMNA):c.383dup (p.Ala129fs)	LMNA, LOC126805877 (A129fs +3 more)	Duplication (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 200934	NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	LMNA, LOC126805877 (R133Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	LMNA-related condition +6 more	GBenign/Likely benign
Select item 222692	NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)	LMNA, LOC126805877 (T150A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 48067	NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)	LMNA, LOC126805877 (T150P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 200935	NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)	LMNA, LOC126805877 (R156C +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +12 more	GUncertain significance
Select item 1172290	NM_170707.4(LMNA):c.467G>A (p.Arg156His)	LMNA, LOC126805877 (R156H +2 more)	Single nucleotide variant (missense variant)	not specified +16 more	GUncertain significance
Select item 1742460	NM_170707.4(LMNA):c.468C>T (p.Arg156=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1742586	NM_170707.4(LMNA):c.470C>A (p.Thr157Lys)	LMNA, LOC126805877 (T157K +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1039429	NM_170707.4(LMNA):c.470C>T (p.Thr157Met)	LMNA, LOC126805877 (T45M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 200936	NM_170707.4(LMNA):c.471G>A (p.Thr157=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +14 more	GConflicting classifications of pathogenicity
Select item 476830	NM_170707.4(LMNA):c.477G>A (p.Glu159=)	LOC126805877, LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1402379	NM_170707.4(LMNA):c.478G>C (p.Gly160Arg)	LOC126805877, LMNA (G79R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 499012	NM_170707.4(LMNA):c.483G>A (p.Glu161=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 3, autosomal recessive +12 more	GConflicting classifications of pathogenicity
Select item 574040	NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)	LMNA, LOC126805877 (R166W +2 more)	Single nucleotide variant (missense variant)	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 66901	NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	LMNA, LOC126805877 (R166P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 285725	NM_170707.4(LMNA):c.498G>A (p.Arg166=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 518520	NM_170707.4(LMNA):c.513+2T>G	LMNA, LOC126805877	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic
Select item 927619	NM_170707.4(LMNA):c.521C>A (p.Ala174Glu)	LMNA (A174E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1382049	NM_170707.4(LMNA):c.540G>A (p.Lys180=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 1748675	NM_170707.4(LMNA):c.561dup (p.Leu188fs)	LMNA (L76fs +2 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 66906	NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)	LMNA (R189W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +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)	Cardiovascular phenotype +4 more	GPathogenic
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 659519	NM_170707.4(LMNA):c.573G>A (p.Val191=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 519381	NM_170707.4(LMNA):c.579T>C (p.Ala193=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GLikely benign
Select item 1750607	NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)	LMNA (Q86R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 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 48070	NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	LMNA (E203K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 519420	NM_170707.4(LMNA):c.610C>G (p.Leu204Val)	LMNA (L204V +2 more)	Single nucleotide variant (missense variant)	Restrictive dermopathy 2 +14 more	GUncertain significance
Select item 48071	NM_170707.4(LMNA):c.612G>A (p.Leu204=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +17 more	GBenign/Likely benign
Select item 66916	NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)	LMNA (F206L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1752846	NM_170707.4(LMNA):c.631T>A (p.Tyr211Asn)	LMNA (Y130N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 915590	NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)	LMNA (Y99C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1752940	NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)	LMNA (Y99* +4 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1752986	NM_170707.4(LMNA):c.634A>C (p.Ser212Arg)	LMNA (S131R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 859400	NM_170707.4(LMNA):c.639+1G>T	LMNA	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic
Select item 66921	NM_170707.4(LMNA):c.640-10A>G	LMNA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
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 65764	NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	LMNA (L215P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 200938	NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)	LMNA (R216C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 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)	Charcot-Marie-Tooth disease type 2B1 +16 more	GConflicting classifications of pathogenicity
Select item 507462	NM_170707.4(LMNA):c.657G>A (p.Lys219=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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	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)	not provided +5 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4