ClinVar for Gene (Select 4000) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 2087

<< First< Prev

Page of 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075406	NM_170707.4(LMNA):c.1431C>T (p.Pro477=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3075315	NM_170707.4(LMNA):c.1995A>T (p.Ter665Tyr)	LMNA	Single nucleotide variant (stop lost +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3075219	NM_170707.4(LMNA):c.1145G>A (p.Gly382Asp)	LMNA (G174D +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3075022	NM_170707.4(LMNA):c.1256G>T (p.Arg419Leu)	LMNA (R211L +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 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 3074679	NM_170707.4(LMNA):c.1524C>A (p.Pro508=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3074640	NM_170707.4(LMNA):c.1510G>A (p.Ala504Thr)	LMNA (A296T +5 more)	Single nucleotide variant (missense variant)	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 3074580	NM_170707.4(LMNA):c.1425T>C (p.Asp475=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3074529	NM_170707.4(LMNA):c.1969A>G (p.Ser657Gly)	LMNA (S449G +7 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074456	NM_170707.4(LMNA):c.1700G>A (p.Gly567Asp)	LMNA (G359D +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074437	NM_170707.4(LMNA):c.937-6dup	LMNA (L103fs)	Duplication (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3074362	NM_170707.4(LMNA):c.943G>A (p.Ala315Thr)	LMNA (A107T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074359	NM_170707.4(LMNA):c.1220C>T (p.Ser407Phe)	LMNA (S199F +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074004	NM_170707.4(LMNA):c.1367A>G (p.Asn456Ser)	LMNA (N248S +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073956	NM_170707.4(LMNA):c.1387T>C (p.Ser463Pro)	LMNA (S255P +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073907	NM_170707.4(LMNA):c.1561G>A (p.Gly521Ser)	LMNA (G313S +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073876	NM_170707.4(LMNA):c.1990A>C (p.Met664Leu)	LMNA (I456L +11 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	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 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 3073519	NM_170707.4(LMNA):c.839G>A (p.Arg280Lys)	LMNA (G59R +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073113	NM_170707.4(LMNA):c.1453C>T (p.Pro485Ser)	LMNA (P277S +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 3072809	NM_170707.4(LMNA):c.908C>T (p.Ser303Phe)	LMNA (S117F +4 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072513	NM_170707.4(LMNA):c.1420G>A (p.Gly474Arg)	LMNA (G266R +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072465	NM_170707.4(LMNA):c.1472C>G (p.Ala491Gly)	LMNA (A283G +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072386	NM_170707.4(LMNA):c.1419T>A (p.Asn473Lys)	LMNA (N265K +5 more)	Single nucleotide variant (missense variant)	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 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 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 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 3071835	NM_170707.4(LMNA):c.1184C>G (p.Ser395Trp)	LMNA (S187W +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071612	NM_170707.4(LMNA):c.946A>G (p.Lys316Glu)	LMNA (K108E +5 more)	Single nucleotide variant (missense variant)	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 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 3071113	NM_170707.4(LMNA):c.1520G>A (p.Ser507Asn)	LMNA (S299N +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 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 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 3070779	NM_170707.4(LMNA):c.1646T>C (p.Val549Ala)	LMNA (V341A +5 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070767	NM_170707.4(LMNA):c.640-7del	LMNA	Deletion (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070634	NM_170707.4(LMNA):c.895A>T (p.Ile299Phe)	LMNA (I113F +4 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070593	NM_170707.4(LMNA):c.731C>A (p.Ala244Glu)	LMNA (A132E +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070555	NM_170707.4(LMNA):c.1158-8C>T	LMNA	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070550	NM_170707.4(LMNA):c.1221C>T (p.Ser407=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070531	NM_170707.4(LMNA):c.777T>C (p.Tyr259=)	LMNA (I38T)	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070529	NM_170707.4(LMNA):c.1435C>T (p.Leu479=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
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 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 3070376	NM_170707.4(LMNA):c.1531G>C (p.Asp511His)	LMNA (D303H +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070333	NM_170707.4(LMNA):c.1489-5T>C	LMNA	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070304	NM_170707.4(LMNA):c.962G>C (p.Arg321Pro)	LMNA (R113P +5 more)	Single nucleotide variant (missense variant)	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 3070214	NM_170707.4(LMNA):c.1669G>A (p.Asp557Asn)	LMNA (D349N +5 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070207	NM_170707.4(LMNA):c.1376A>T (p.Asn459Ile)	LMNA (N251I +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070093	NM_170707.4(LMNA):c.1381-15C>T	LMNA	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070010	NM_170707.4(LMNA):c.1030G>A (p.Glu344Lys)	LMNA (E136K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	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 3069667	NM_170707.4(LMNA):c.1903G>A (p.Gly635Ser)	LMNA (G427S +6 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3069627	NM_170707.4(LMNA):c.1844C>A (p.Ser615Tyr)	LMNA (S407Y +6 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	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 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 3068627	NM_170707.4(LMNA):c.174del (p.Leu59fs)	LMNA (L59fs)	Deletion (frameshift variant +2 more)	Primary dilated cardiomyopathy	GPathogenic
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 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062600	GRCh37/hg19 1q22(chr1:155902621-156207096)x3	ARHGEF2, KHDC4 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3036310	NM_170707.4(LMNA):c.357-3720C>T	LMNA (A32V)	Single nucleotide variant (missense variant +2 more)	LMNA-related condition	GUncertain significance
Select item 3034505	NM_170707.4(LMNA):c.936+49G>C	LMNA	Single nucleotide variant (intron variant)	LMNA-related condition	GLikely benign
Select item 3031413	NM_170707.4(LMNA):c.513+36C>T	LMNA, LOC126805877	Single nucleotide variant (intron variant)	LMNA-related condition	GLikely benign
Select item 3023548	NM_170707.4(LMNA):c.1026G>A (p.Glu342=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3017439	NM_170707.4(LMNA):c.615C>T (p.Asp205=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 3012467	NM_170707.4(LMNA):c.1068G>A (p.Leu356=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3010723	NM_170707.4(LMNA):c.645G>C (p.Leu215=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3010442	NM_170707.4(LMNA):c.1968+19G>C	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3009340	NM_170707.4(LMNA):c.1157+7T>C	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3008731	NM_170707.4(LMNA):c.1157+30G>A	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2996543	NM_170707.4(LMNA):c.1887G>T (p.Val629=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2995804	NM_170707.4(LMNA):c.996C>T (p.Asp332=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2994350	NM_170707.4(LMNA):c.1196G>C (p.Arg399Pro)	LMNA (R287P +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2992563	NM_170707.4(LMNA):c.1889G>T (p.Gly630Val)	LMNA (G600V +6 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2990583	NM_170707.4(LMNA):c.878A>G (p.Gln293Arg)	LMNA (Q107R +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2989810	NM_170707.4(LMNA):c.1271C>T (p.Thr424Ile)	LMNA (T312I +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2989087	NM_170707.4(LMNA):c.640-20C>T	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2988269	NM_170707.4(LMNA):c.1824C>A (p.Gly608=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2978665	NM_170707.4(LMNA):c.859G>A (p.Ala287Thr)	LMNA (A188T +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2977457	NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)	LMNA (M137T +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2974892	NM_170707.4(LMNA):c.1138T>A (p.Leu380Met)	LMNA (L268M +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
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 2966143	NM_170707.4(LMNA):c.1203T>G (p.Arg401=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2965644	NM_170707.4(LMNA):c.691A>G (p.Asn231Asp)	LMNA (N119D +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2965632	NM_170707.4(LMNA):c.1398T>C (p.Asn466=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2963675	NM_170707.4(LMNA):c.1625A>G (p.Lys542Arg)	LMNA (K430R +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2955782	NM_170707.4(LMNA):c.1965C>T (p.Thr655=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2918920	NM_170707.4(LMNA):c.1634G>T (p.Arg545Leu)	LMNA (R464L +5 more)	Single nucleotide variant (missense variant +1 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 2916254	NM_170707.4(LMNA):c.210C>A (p.Val70=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2914685	NM_170707.4(LMNA):c.531T>C (p.Gly177=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign

<< First< Prev

Page of 21