Related gene-specific medical variations for Gene (Select 4000) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233370	NM_170707.4(LMNA):c.1560G>C (p.Trp520Cys)	LMNA (W312C +5 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy	GLikely pathogenic
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 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 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 3070462	NM_170707.4(LMNA):c.357-9C>A	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3064138	NM_170707.4(LMNA):c.470delinsGCTGGA (p.Thr157fs)	LMNA, LOC126805877 (T157fs +3 more)	Indel (frameshift variant +2 more)	Congenital muscular dystrophy due to LMNA mutation	GLikely pathogenic
Select item 3031413	NM_170707.4(LMNA):c.513+36C>T	LMNA, LOC126805877	Single nucleotide variant (intron variant)	LMNA-related disorder	GLikely 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 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 2883981	NM_170707.4(LMNA):c.460G>A (p.Glu154Lys)	LMNA, LOC126805877 (E154K +3 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2857510	NM_170707.4(LMNA):c.102C>T (p.Asp34=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2856213	NM_170707.4(LMNA):c.513+19G>T	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
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 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 2840458	NM_170707.4(LMNA):c.513+6_513+20dup	LMNA, LOC126805877	Duplication (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2821715	NM_170707.4(LMNA):c.475G>C (p.Glu159Gln)	LMNA, LOC126805877 (E159Q +3 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2819882	NM_170707.4(LMNA):c.409C>T (p.Leu137=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2791821	NM_170707.4(LMNA):c.507G>A (p.Val169=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2791190	NM_170707.4(LMNA):c.357-6C>G	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
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 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 2773535	NM_170707.4(LMNA):c.357-15C>T	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
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 2773532	NM_170707.4(LMNA):c.72C>G (p.Thr24=)	LOC129931597, LMNA	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy	GLikely benign
Select item 2771336	NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)	LMNA, LOC126805877 (L152P +3 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2765842	NM_170707.4(LMNA):c.490G>A (p.Asp164Asn)	LMNA, LOC126805877 (D83N +3 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2763593	NM_170707.4(LMNA):c.87G>T (p.Leu29=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2757500	NM_170707.4(LMNA):c.450_451del (p.Ala151fs)	LMNA, LOC126805877 (A39fs +3 more)	Deletion (frameshift variant +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2756520	NM_170707.4(LMNA):c.74G>A (p.Arg25His)	LMNA, LOC129931597 (R25H)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 2754208	NM_170707.4(LMNA):c.70_71insGCCGGGTGCGCTGTCGCCCA (p.Thr24fs)	LMNA, LOC129931597 (T24fs)	Insertion (frameshift variant +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2733992	NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)	LMNA, LOC126805877 (R34G +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 2733989	NM_170707.4(LMNA):c.96GGA[1] (p.Glu33del)	LMNA, LOC129931597 (E33del)	Microsatellite (inframe_deletion +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2723540	NM_170707.4(LMNA):c.357-18C>G	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
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 2701831	NM_170707.4(LMNA):c.504G>A (p.Gln168=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2671668	NM_170707.4(LMNA):c.365A>G (p.Lys122Arg)	LMNA, LOC126805877 (K10R +3 more)	Single nucleotide variant (missense variant +2 more)	Mandibuloacral dysplasia with type A lipodystrophy	GUncertain significance
Select item 2665010	NM_170707.4(LMNA):c.357-3669G>A	LMNA	Single nucleotide variant (intron variant +1 more)	Familial partial lipodystrophy, Dunnigan type	GUncertain significance
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 2573012	NM_170707.4(LMNA):c.1641del (p.Thr548fs)	LMNA (T340fs +5 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1A	GPathogenic
Select item 2567287	NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)	LMNA, LOC129931597 (R11C)	Single nucleotide variant (missense variant +2 more)	LMNA-related disorder +2 more	GUncertain significance
Select item 2567286	NM_170707.4(LMNA):c.383dup (p.Ala129fs)	LOC126805877, LMNA (A129fs +3 more)	Duplication (frameshift variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 2505337	NM_170707.4(LMNA):c.401T>C (p.Leu134Pro)	LMNA, LOC126805877 (L134P +3 more)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2503449	NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)	LMNA, LOC129931597 (K32T)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to LMNA mutation	GPathogenic
Select item 2502156	NM_170707.4(LMNA):c.872A>T (p.Glu291Val)	LMNA (E105V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2433482	NM_170707.4(LMNA):c.1669G>T (p.Asp557Tyr)	LMNA (D349Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433481	NM_170707.4(LMNA):c.107A>C (p.Gln36Pro)	LMNA (Q36P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433480	NM_170707.4(LMNA):c.754C>T (p.His252Tyr)	LMNA (H140Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433478	NM_170707.4(LMNA):c.148C>G (p.Arg50Gly)	LMNA (R50G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433475	NM_170707.4(LMNA):c.1095C>G (p.Ile365Met)	LMNA (I157M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433473	NM_170707.4(LMNA):c.284_286del (p.Val95del)	LMNA (V95del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2433472	NM_170707.4(LMNA):c.353C>G (p.Ala118Gly)	LMNA (A118G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433470	NM_170707.4(LMNA):c.734T>C (p.Leu245Pro)	LMNA (C24R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433469	NM_170707.4(LMNA):c.1838C>G (p.Ser613Cys)	LMNA (S405C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433466	NM_170707.4(LMNA):c.1041G>C (p.Glu347Asp)	LMNA (E139D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431241	NM_170707.4(LMNA):c.89A>C (p.Gln30Pro)	LMNA, LOC129931597 (Q30P)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GUncertain significance
Select item 2431240	NM_170707.4(LMNA):c.91del (p.Glu31fs)	LMNA, LOC129931597 (E31fs)	Deletion (frameshift variant)	Congenital muscular dystrophy due to LMNA mutation	GUncertain significance
Select item 2431192	NM_170707.4(LMNA):c.104T>A (p.Leu35Gln)	LMNA, LOC129931597 (L35Q)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GUncertain significance
Select item 2430182	NC_000001.11:g.156115286C>T	LMNA	Single nucleotide variant	Cardiomyopathy	GUncertain significance
Select item 2162192	NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)	LMNA, LOC126805877 (K10* +3 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 2151903	NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)	LMNA, LOC126805877 (K63T +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
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 2136172	NM_170707.4(LMNA):c.445A>C (p.Ser149Arg)	LMNA, LOC126805877 (S50R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133284	NM_170707.4(LMNA):c.431A>G (p.Lys144Arg)	LMNA, LOC126805877 (K32R +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	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 2095000	NM_170707.4(LMNA):c.378C>T (p.Asp126=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2047580	NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)	LMNA, LOC129931597 (E33Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2007510	NM_170707.4(LMNA):c.513+45T>C	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2005753	NM_170707.4(LMNA):c.405_425dup (p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu)	LMNA, LOC126805877	Duplication (inframe_insertion +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
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 1962928	NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)	LMNA, LOC126805877 (R52W +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
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 1929643	NM_170707.4(LMNA):c.400C>G (p.Leu134Val)	LMNA, LOC126805877 (L35V +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
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 1901685	NM_170707.4(LMNA):c.513+11C>T	LOC126805877, LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	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 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 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 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 1742460	NM_170707.4(LMNA):c.468C>T (p.Arg156=)	LMNA, LOC126805877	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1720742	NM_170707.4(LMNA):c.76A>G (p.Ile26Val)	LMNA, LOC129931597 (I26V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1707890	NM_170707.4(LMNA):c.384A>G (p.Ile128Met)	LMNA, LOC126805877 (I128M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1555949	NM_170707.4(LMNA):c.423G>A (p.Leu141=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1542922	NM_170707.4(LMNA):c.513+11C>A	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1516417	NM_170707.4(LMNA):c.91_92delinsAG (p.Glu31Arg)	LMNA, LOC129931597 (E31R)	Indel (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1509209	NM_170707.4(LMNA):c.393G>C (p.Gln131His)	LMNA, LOC126805877 (Q131H +2 more)	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 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 1463668	NM_170707.4(LMNA):c.376G>A (p.Asp126Asn)	LMNA, LOC126805877 (D14N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
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 1442001	NM_170707.4(LMNA):c.88C>G (p.Gln30Glu)	LMNA, LOC129931597 (Q30E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1427183	NM_170707.4(LMNA):c.380T>C (p.Leu127Pro)	LMNA, LOC126805877 (L15P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1402379	NM_170707.4(LMNA):c.478G>C (p.Gly160Arg)	LMNA, LOC126805877 (G79R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1390689	NM_170707.4(LMNA):c.430A>G (p.Lys144Glu)	LMNA, LOC126805877 (K144E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1364147	NM_170707.4(LMNA):c.422T>C (p.Leu141Pro)	LMNA, LOC126805877 (L141P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1350707	NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)	LMNA, LOC129931597 (A16D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +12 more	GUncertain significance
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 1329344	NM_170707.4(LMNA):c.370G>A (p.Glu124Lys)	LMNA, LOC126805877 (E124K +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1324669	NM_170707.4(LMNA):c.513+1G>T	LMNA, LOC126805877	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic

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