"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 14477	NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	LMNA, LOC129931597 (Q6*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GPathogenic
Select item 66887	NM_170707.4(LMNA):c.28dup (p.Thr10fs)	LMNA, LOC129931597 (T10fs)	Duplication (frameshift variant)	not provided	Gnot provided
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 36479	NM_170707.4(LMNA):c.51C>T (p.Ser17=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Cardiomyopathy +20 more	GBenign/Likely benign
Select item 66929	NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)	LMNA, LOC129931597 (R25C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +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 66932	NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)	LMNA, LOC129931597 (R25P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 66946	NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)	LMNA, LOC129931597 (R28W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 66960	NM_170707.4(LMNA):c.94_96del (p.Lys32del)	LMNA, LOC129931597 (K32del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 66962	NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	LMNA, LOC129931597 (E33G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 66965	NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)	LMNA, LOC129931597 (E33D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66964	NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)	LMNA, LOC129931597 (E33D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66761	NM_170707.4(LMNA):c.103C>G (p.Leu35Val)	LMNA, LOC129931597 (L35V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66765	NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)	LMNA, LOC129931597 (L35P)	Single nucleotide variant (missense variant)	Muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 66770	NM_170707.4(LMNA):c.106C>T (p.Gln36Ter)	LMNA (Q36*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
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 66791	NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)	LMNA (N39S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 66799	NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)	LMNA (A43T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66807	NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)	LMNA (Y45C)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 66815	NM_170707.4(LMNA):c.136A>G (p.Ile46Val)	LMNA (I46V)	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 66835	NM_170707.4(LMNA):c.148C>A (p.Arg50Ser)	LMNA (R50S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66840	NM_170707.4(LMNA):c.149G>C (p.Arg50Pro)	LMNA (R50P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66847	NM_170707.4(LMNA):c.155T>C (p.Leu52Pro)	LMNA (L52P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66852	NM_170707.4(LMNA):c.158A>T (p.Glu53Val)	LMNA (E53V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 14506	NM_170707.4(LMNA):c.169G>C (p.Ala57Pro)	LMNA (A57P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	GPathogenic
Select item 18457	NM_170707.4(LMNA):c.176T>G (p.Leu59Arg)	LMNA (L59R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	GPathogenic
Select item 14479	NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)	LMNA (R60G)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +1 more	GPathogenic
Select item 66868	NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)	LMNA (R62G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 66872	NM_170707.4(LMNA):c.188T>G (p.Ile63Ser)	LMNA (I63S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66871	NM_170707.4(LMNA):c.188T>A (p.Ile63Asn)	LMNA (I63N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66881	NM_170707.4(LMNA):c.203_208del (p.Glu68_Val69del)	LMNA	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 66882	NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)	LMNA (E82K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
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 66883	NM_170707.4(LMNA):c.265C>T (p.Arg89Cys)	LMNA (R89C)	Single nucleotide variant (missense variant)	Heart-hand syndrome, Slovenian type	GLikely pathogenic
Select item 66884	NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)	LMNA (R89L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 66885	NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)	LMNA (L92F)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 66886	NM_170707.4(LMNA):c.289A>G (p.Lys97Glu)	LMNA (K97E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66889	NM_170707.4(LMNA):c.302G>C (p.Arg101Pro)	LMNA (R101P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66892	NM_170707.4(LMNA):c.331GAG[1] (p.Glu112del)	LMNA (E112del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 66891	NM_170707.4(LMNA):c.331G>T (p.Glu111Ter)	LMNA (E111*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 48061	NM_170707.4(LMNA):c.348dup (p.Lys117fs)	LMNA (K117fs)	Duplication (frameshift variant)	Primary dilated cardiomyopathy +1 more	GPathogenic
Select item 36478	NM_170707.4(LMNA):c.357-20C>T	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 66893	NM_170707.4(LMNA):c.357-1G>T	LMNA, LOC126805877	Single nucleotide variant (splice acceptor variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LOC126805877, LMNA	Single nucleotide variant (synonymous variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +16 more	GConflicting classifications of pathogenicity
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 66895	NM_170707.4(LMNA):c.394G>C (p.Ala132Pro)	LMNA, LOC126805877 (A132P +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 14508	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA, LOC126805877 (R133P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 14488	NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	LMNA, LOC126805877 (R133L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 66896	NM_170707.4(LMNA):c.406G>C (p.Asp136His)	LMNA, LOC126805877 (D136H +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66897	NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)	LMNA, LOC126805877 (E138K +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66898	NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)	LMNA, LOC126805877 (L140P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 14507	NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)	LMNA, LOC126805877 (L140R +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford progeria syndrome, childhood-onset	GPathogenic
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 14510	NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)	LOC126805877, LMNA (S143F +2 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GPathogenic
Select item 14502	NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)	LMNA, LOC126805877 (E145K +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford progeria syndrome, atypical	GPathogenic
Select item 48067	NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)	LOC126805877, LMNA (T150P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 66900	NM_170707.4(LMNA):c.475G>A (p.Glu159Lys)	LMNA, LOC126805877 (E159K +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 14504	NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	LMNA, LOC126805877 (E161K +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 48068	NM_170707.4(LMNA):c.485T>C (p.Leu162Pro)	LMNA, LOC126805877 (L162P +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 66901	NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	LOC126805877, LMNA (R166P +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +4 more	GPathogenic/Likely pathogenic
Select item 66970	NM_170707.4(LMNA):c.506del (p.Val169fs)	LMNA, LOC126805877 (V169fs +2 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 66902	NM_170707.4(LMNA):c.513G>A (p.Lys171=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 66903	NM_170707.4(LMNA):c.514-1G>A	LMNA	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1A	GPathogenic
Select item 66904	NM_170707.4(LMNA):c.548T>C (p.Leu183Pro)	LMNA (L183P +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66905	NM_170707.4(LMNA):c.556G>A (p.Glu186Lys)	LMNA (E186K +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66909	NM_170707.4(LMNA):c.565CGG[3] (p.Arg190dup)	LMNA	Microsatellite (inframe_insertion)	not provided	Gnot provided
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 66907	NM_170707.4(LMNA):c.566_567inv (p.Arg189Pro)	LMNA (R108P +2 more)	Inversion (missense variant)	not provided	Gnot provided
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 66910	NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	LMNA (R190Q +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 66912	NM_170707.4(LMNA):c.575A>T (p.Asp192Val)	LMNA (D192V +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 66911	NM_170707.4(LMNA):c.575A>G (p.Asp192Gly)	LMNA (D192G +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 66913	NM_170707.4(LMNA):c.585C>A (p.Asn195Lys)	LMNA (N195K +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 14483	NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)	LMNA (N195K +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 66914	NM_170707.4(LMNA):c.588_596del (p.Arg196_Thr199delinsSer)	LMNA	Deletion (inframe_indel)	not provided	Gnot provided
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 66915	NM_170707.4(LMNA):c.608A>T (p.Glu203Val)	LMNA (E203V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 14484	NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)	LMNA (E203G +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
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 66916	NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)	LMNA (F206L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 66918	NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)	LMNA (K208del +2 more)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66919	NM_170707.4(LMNA):c.626del (p.Asn209fs)	LMNA (N128fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 48072	NM_170707.4(LMNA):c.629T>G (p.Ile210Ser)	LMNA (I210S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66921	NM_170707.4(LMNA):c.640-10A>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic/Likely pathogenic
Select item 66920	NM_170707.4(LMNA):c.640-10A>C	LMNA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 65764	NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	LMNA (L215P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 66922	NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)	LMNA (K219T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 14492	NM_170707.4(LMNA):c.664C>T (p.His222Tyr)	LMNA (H222Y +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	GPathogenic
Select item 66923	NM_170707.4(LMNA):c.665A>C (p.His222Pro)	LMNA (H222P +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 48074	NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	LMNA (R225* +2 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A +5 more	GPathogenic
Select item 14518	NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)	LMNA (D230N +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type	GPathogenic
Select item 66924	NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	LMNA (G232R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 66925	NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	LMNA (G232E +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 48075	NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)	LMNA (Q234* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 66926	NM_170707.4(LMNA):c.723G>A (p.Leu241=)	LMNA	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66927	NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)	LMNA (Q246* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic

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