ClinVar for MedGen (Select 1757618) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 169

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1746556	NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)	LMNA (G301S +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +12 more	GUncertain significance
Select item 1677618	NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)	LMNA (D118G +2 more)	Single nucleotide variant (missense variant)	not provided +12 more	GUncertain significance
Select item 1518015	NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)	LMNA (E82Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +12 more	GConflicting classifications of pathogenicity
Select item 1504530	NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)	LMNA (R119L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +11 more	GUncertain significance
Select item 1457399	NM_170707.4(LMNA):c.822del (p.Arg275fs)	LMNA (R275fs +2 more)	Deletion (frameshift variant)	Restrictive dermopathy 2 +11 more	GPathogenic/Likely pathogenic
Select item 1364459	NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)	LMNA (Q212L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +11 more	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 1343751	NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	LMNA (V437fs +2 more)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +11 more	GLikely pathogenic
Select item 1329345	NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)	LMNA (A202T +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +13 more	GUncertain significance
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 1172352	NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)	LMNA (T422S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +15 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)	Charcot-Marie-Tooth disease type 2 +16 more	GUncertain significance
Select item 1056234	NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg)	LMNA (S545R +3 more)	Single nucleotide variant (missense variant)	Heart-hand syndrome, Slovenian type +12 more	GUncertain significance
Select item 1029259	NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)	LMNA (I63L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +13 more	GConflicting classifications of pathogenicity
Select item 1025610	NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)	LMNA (D440A +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2B1 +11 more	GUncertain significance
Select item 965914	NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)	LMNA (G300W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +12 more	GUncertain significance
Select item 958149	NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)	LMNA (S317R +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +11 more	GUncertain significance
Select item 948103	NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly)	LMNA (S316G +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +11 more	GUncertain significance
Select item 928831	NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)	LMNA (G301C +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford syndrome +13 more	GUncertain significance
Select item 928099	NM_170707.4(LMNA):c.1485G>A (p.Val495=)	LMNA	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +11 more	GLikely benign
Select item 927247	NM_170707.4(LMNA):c.1364G>A (p.Arg455His)	LMNA (R343H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +14 more	GUncertain significance
Select item 926754	NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)	LMNA (S429N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +14 more	GUncertain significance
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 924728	NM_170707.4(LMNA):c.1699-9C>T	LMNA	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1A +13 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 923351	NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)	LMNA (R255W +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +14 more	GConflicting classifications of pathogenicity
Select item 918633	NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)	LMNA (S326L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +14 more	GUncertain significance
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 917027	NM_170707.4(LMNA):c.1968+18dup	LMNA	Duplication (intron variant)	Heart-hand syndrome, Slovenian type +13 more	GBenign/Likely benign
Select item 916768	NM_170707.4(LMNA):c.1489-16C>G	LMNA	Single nucleotide variant (intron variant)	not specified +14 more	GBenign/Likely benign
Select item 876083	NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)	LMNA (D334E +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GUncertain significance
Select item 875747	NM_170707.4(LMNA):c.356+12C>A	LMNA	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 875382	NM_170707.4(LMNA):c.1698+83G>A	LMNA	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 874656	NM_005572.3(LMNA):c.-223C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +10 more	GConflicting classifications of pathogenicity
Select item 874034	NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)	LMNA (T154A +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 873801	NM_170707.4(LMNA):c.-44T>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 871955	NM_005572.4(LMNA):c.1715G>A (p.Arg572His)	LMNA (R491H +1 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +11 more	GUncertain significance
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 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 845155	NM_170707.4(LMNA):c.326T>A (p.Val109Glu)	LMNA (V109E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +11 more	GUncertain significance
Select item 806244	NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr)	LMNA (A353T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +11 more	GUncertain significance
Select item 758400	NM_170707.4(LMNA):c.1381-6C>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +11 more	GLikely benign
Select item 702959	NM_170707.4(LMNA):c.1488+7G>A	LMNA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +12 more	GLikely benign
Select item 698186	NM_170707.4(LMNA):c.1227A>G (p.Thr409=)	LMNA	Single nucleotide variant (synonymous variant)	Hutchinson-Gilford syndrome +14 more	GConflicting classifications of pathogenicity
Select item 669927	NM_170707.4(LMNA):c.1380+18G>A	LMNA	Single nucleotide variant (intron variant)	Mandibuloacral dysplasia with type A lipodystrophy +12 more	GLikely benign
Select item 656550	NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)	LMNA (R231W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +20 more	GConflicting classifications of pathogenicity
Select item 652575	NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)	LMNA (R184C +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +13 more	GUncertain significance
Select item 640713	NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser)	LMNA (G601S +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +13 more	GUncertain significance
Select item 628942	NM_170707.4(LMNA):c.1659C>T (p.Asp553=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +13 more	GLikely benign
Select item 593242	NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)	LMNA (Q396L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +14 more	GUncertain significance
Select item 586129	NM_170707.4(LMNA):c.953C>T (p.Ala318Val)	LMNA (A318V +2 more)	Single nucleotide variant (missense variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +14 more	GUncertain significance/Uncertain risk allele
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 586127	NM_170707.4(LMNA):c.268A>G (p.Lys90Glu)	LMNA (K90E)	Single nucleotide variant (missense variant)	not provided +12 more	GUncertain significance
Select item 579396	NM_170707.4(LMNA):c.893G>T (p.Arg298Leu)	LMNA (R298L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +11 more	GUncertain significance
Select item 574664	NM_170707.4(LMNA):c.762C>A (p.Asp254Glu)	LMNA (D254E +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +11 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 570103	NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	LMNA (R453Q +2 more)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 567367	NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)	LMNA (T591M +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +16 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 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 521983	NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)	LMNA (R552L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +13 more	GConflicting classifications of pathogenicity
Select item 519439	NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)	LMNA (N283S +2 more)	Single nucleotide variant (missense variant)	not provided +16 more	GUncertain significance
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 519055	NM_170707.4(LMNA):c.845G>A (p.Ser282Asn)	LMNA (S282N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +11 more	GUncertain significance
Select item 519022	NM_170707.4(LMNA):c.1324G>A (p.Val442Met)	LMNA (V442M +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy +14 more	GConflicting classifications of pathogenicity
Select item 518817	NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)	LMNA (S513P +2 more)	Indel (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +13 more	GUncertain significance
Select item 518473	NM_170707.4(LMNA):c.787C>A (p.Leu263Met)	LMNA (L263M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +14 more	GUncertain significance
Select item 516446	NM_170707.4(LMNA):c.1381-13A>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +16 more	GBenign/Likely benign
Select item 513856	NM_170707.4(LMNA):c.153G>T (p.Ser51=)	LMNA	Single nucleotide variant (synonymous variant)	Heart-hand syndrome, Slovenian type +16 more	GLikely benign
Select item 504326	NM_170707.4(LMNA):c.1488+6T>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +15 more	GUncertain significance
Select item 500476	NM_170707.4(LMNA):c.853G>T (p.Val285Leu)	LMNA (V285L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +14 more	GUncertain significance
Select item 499012	NM_170707.4(LMNA):c.483G>A (p.Glu161=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 487635	NM_170707.4(LMNA):c.1756G>A (p.Val586Met)	LMNA (V474M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +15 more	GUncertain significance
Select item 476826	NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)	LMNA (R584C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +15 more	GUncertain significance
Select item 476825	NM_170707.4(LMNA):c.1608+10C>T	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +11 more	GUncertain significance
Select item 476822	NM_170707.4(LMNA):c.1256G>A (p.Arg419His)	LMNA (R419H +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +15 more	GUncertain significance
Select item 452332	NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)	LMNA (D254N +2 more)	Single nucleotide variant (missense variant)	not provided +14 more	GUncertain significance
Select item 432879	NM_170707.4(LMNA):c.1390A>G (p.Met464Val)	LMNA (M464V +2 more)	Single nucleotide variant (missense variant)	not provided +15 more	GConflicting classifications of pathogenicity
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 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 386612	NM_170707.4(LMNA):c.1662G>A (p.Glu554=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +14 more	GLikely benign
Select item 383898	NM_170707.4(LMNA):c.811-12C>T	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +15 more	GLikely benign
Select item 379044	NM_170707.4(LMNA):c.1157+19G>A	LMNA	Single nucleotide variant (intron variant)	not specified +14 more	GLikely benign
Select item 378090	NM_170707.4(LMNA):c.1857T>C (p.Ser619=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	not specified +16 more	GLikely benign
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 292840	NM_170707.4(LMNA):c.1698+57G>A	LMNA	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal tight skin contracture syndrome +10 more	GConflicting classifications of pathogenicity
Select item 292839	NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	LMNA	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +16 more	GConflicting classifications of pathogenicity
Select item 292836	NM_170707.4(LMNA):c.514-11C>T	LMNA	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to LMNA mutation +13 more	GConflicting classifications of pathogenicity
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 292834	NM_170707.4(LMNA):c.294G>A (p.Glu98=)	LMNA	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1A +12 more	GConflicting classifications of pathogenicity
Select item 292831	NM_170707.4(LMNA):c.-88G>T	LMNA	Single nucleotide variant (5 prime UTR variant)	Congenital muscular dystrophy due to LMNA mutation +12 more	GBenign/Likely benign
Select item 292829	NM_170707.4(LMNA):c.-128T>C	LMNA	Single nucleotide variant (5 prime UTR variant)	Hutchinson-Gilford syndrome +10 more	GLikely benign
Select item 292828	NM_170707.4(LMNA):c.-138T>C	LMNA	Single nucleotide variant (5 prime UTR variant)	Lethal tight skin contracture syndrome +10 more	GUncertain significance
Select item 292825	NM_005572.3(LMNA):c.-210T>C	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 292823	NM_005572.3(LMNA):c.-226C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 287940	NM_170707.4(LMNA):c.1202G>A (p.Arg401His)	LMNA (R401H +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +15 more	GUncertain significance
Select item 286271	NM_170707.4(LMNA):c.-1C>A	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Familial partial lipodystrophy, Dunnigan type +12 more	GUncertain significance
Select item 284948	NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)	LMNA (P485A +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +14 more	GUncertain significance
Select item 263661	NM_170707.4(LMNA):c.927C>A (p.Leu309=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +15 more	GLikely benign

<< First< Prev

Page of 2