C0007193[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180108	NM_144573.4(NEXN):c.865-5G>A	NEXN	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 47887	NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)	NEXN (P371L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +6 more	GUncertain significance
Select item 180457	NM_144573.4(NEXN):c.1630del (p.Gln544fs)	NEXN (Q480fs +1 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 326	NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	NEXN (Y652C +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 222690	NM_170707.4(LMNA):c.263C>G (p.Ala88Gly)	LMNA (A88G)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 200947	NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del)	LMNA, LOC126805877 (K123del +2 more)	Microsatellite (inframe_deletion)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 222692	NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)	LMNA, LOC126805877 (T150A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 200938	NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)	LMNA (R216C +2 more)	Single nucleotide variant (missense variant)	Atrioventricular block +6 more	GPathogenic/Likely pathogenic
Select item 222693	NM_170707.4(LMNA):c.661C>T (p.Arg221Cys)	LMNA (R221C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 180404	NM_170707.4(LMNA):c.710T>C (p.Phe237Ser)	LMNA (F237S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 48076	NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	LMNA (A242V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 200959	NM_170707.4(LMNA):c.859del (p.Ala287fs)	LMNA (A287fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 222694	NM_170707.4(LMNA):c.937-8C>A	LMNA	Single nucleotide variant (intron variant)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 48097	NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)	LMNA (S326T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 36473	NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA (R335W +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +20 more	GPathogenic/Likely pathogenic
Select item 155806	NM_170707.4(LMNA):c.1086del (p.Leu363fs)	LMNA (L363fs +2 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GPathogenic
Select item 66792	NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)	LMNA (S395L +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +14 more	GUncertain significance
Select item 211387	NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)	LMNA (R397C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GUncertain significance
Select item 48035	NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	LMNA (R401C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 66803	NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs)	LMNA (S325fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 36476	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA (R471H +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 66862	NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)	LMNA (R545C +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +9 more	GConflicting classifications of pathogenicity
Select item 180554	NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)	TNNT2 (R205W +5 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 222841	NM_001276345.2(TNNT2):c.572T>G (p.Met191Arg)	TNNT2 (M181R +3 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 12414	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	TNNT2 (R141W +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 43642	NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)	TNNT2 (R139H +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 180552	NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)	TNNT2 (E136K +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 180476	NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)	PSEN2 (Q50R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180487	NM_001035.3(RYR2):c.2203+3_2203+4dup	RYR2	Duplication (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 36740	NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)	RYR2 (R1084K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 222786	NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)	LOC126806067, RYR2 (S1280C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GUncertain significance
Select item 155831	NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)	RYR2 (M1564I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 180497	NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	RYR2 (E2715D)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 180498	NM_001035.3(RYR2):c.8209-4T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 222793	NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val)	RYR2 (L3491V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 222794	NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)	LOC126806068, RYR2 (M4279I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 180364	NM_001318895.3(FHL2):c.823T>G (p.Cys275Gly)	C2orf49, FHL2 (C275G +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 222640	NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr)	FHL2, C2orf49 (C272Y +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 222863	NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter)	TTN, TTN-AS1 (Y34670* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180581	NM_001267550.2(TTN):c.103599_103602del (p.Arg34534fs)	TTN-AS1, TTN (R34534fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 180058	NM_001267550.2(TTN):c.97492+1G>C	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 180580	NM_001267550.2(TTN):c.95966del (p.Asn31989fs)	TTN, TTN-AS1 (N23049fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222875	NM_001267550.2(TTN):c.94249del (p.Val31417fs)	TTN-AS1, TTN (V22477fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 223353	NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)	TTN, TTN-AS1 (N28004fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 223324	NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)	TTN-AS1, TTN (N20902fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy +8 more	GPathogenic/Likely pathogenic
Select item 222862	NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter)	TTN-AS1, TTN (W29474* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222874	NM_001267550.2(TTN):c.87849del (p.Leu29283fs)	TTN, TTN-AS1 (L20218fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180576	NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter)	TTN-AS1, TTN (E29106* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 223295	NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	TTN, TTN-AS1 (R28364* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +8 more	GPathogenic/Likely pathogenic
Select item 222879	NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs)	TTN-AS1, TTN (E25362fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222861	NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)	TTN, TTN-AS1 (R26562* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 222878	NM_001267550.2(TTN):c.75314dup (p.Val25106fs)	TTN-AS1, TTN (V16166fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 47301	NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	TTN, TTN-AS1 (R23868* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
Select item 180575	NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter)	TTN, TTN-AS1 (Q23834* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180574	NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter)	LOC126806422, TTN +1 more (W23261* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222877	NM_001267550.2(TTN):c.69639dup (p.Val23214fs)	LOC126806422, TTN +1 more (V20646fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222860	NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)	TTN, TTN-AS1 (E22813* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 222869	NM_001267550.2(TTN):c.67637-2A>G	LOC126806423, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +9 more	GPathogenic/Likely pathogenic
Select item 222868	NM_001267550.2(TTN):c.65576-2A>G	TTN-AS1, TTN	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 228301	NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)	TTN, TTN-AS1 (E12098fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +5 more	GLikely pathogenic
Select item 155850	NM_001267550.2(TTN):c.57847+5_57847+8del	TTN, TTN-AS1	Microsatellite (splice donor variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 47121	NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)	TTN, TTN-AS1 (R19111* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 222872	NM_001267550.2(TTN):c.54990dup (p.Thr18331fs)	TTN, TTN-AS1 (T18331fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 155849	NM_001267550.2(TTN):c.50858-3C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 180579	NM_001267550.2(TTN):c.49813del (p.Val16605fs)	TTN, TTN-AS1 (V14964fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 179411	NM_001267550.2(TTN):c.49648+2del	TTN, TTN-AS1	Deletion (splice donor variant)	not provided +10 more	GPathogenic
Select item 202447	NM_001267550.2(TTN):c.48863del (p.Pro16288fs)	LOC126806426, TTN +1 more (P7348fs +5 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 222867	NM_001267550.2(TTN):c.45896-2A>G	TTN	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 178217	NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)	TTN (P12193S +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 180578	NM_001267550.2(TTN):c.41609-2A>C	TTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 222871	NM_001267550.2(TTN):c.34132del (p.Leu11378fs)	TTN (L10134fs +2 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 46889	NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)	TTN	Microsatellite (inframe_insertion +1 more)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 46832	NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)	TTN (H10092Y +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 179441	NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)	TTN (E7721K +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 222876	NM_001267550.2(TTN):c.12870dup (p.Val4291fs)	TTN (V3974fs +4 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G +5 more	GPathogenic/Likely pathogenic
Select item 222870	NM_133379.5(TTN):c.13939del (p.Glu4647fs)	TTN (E4647fs)	Deletion (frameshift variant +1 more)	not provided +8 more	GUncertain significance
Select item 222857	NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter)	TTN (K3374* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222865	NM_001267550.2(TTN):c.7330+5G>C	LOC126806433, TTN	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GPathogenic
Select item 44244	NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	DES (R350W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +6 more	GConflicting classifications of pathogenicity
Select item 222543	NM_001927.4(DES):c.1234G>A (p.Glu412Lys)	DES (E412K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 222775	NM_002880.4(RAF1):c.1220T>A (p.Leu407His)	RAF1 (L407H +5 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 222840	NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu)	TMEM43 (R268L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 734	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43 (S358L)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 222645	NM_015141.4(GPD1L):c.692G>A (p.Arg231His)	GPD1L (R231H)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 222810	NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn)	SCN5A (D1422N +2 more)	Single nucleotide variant (missense variant +1 more)	Sick sinus syndrome +7 more	GUncertain significance
Select item 180515	NM_000335.5(SCN5A):c.3371C>G (p.Ala1124Gly)	LOC110121269, SCN5A (A1124G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 48294	NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)	SCN5A (D772N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +12 more	GUncertain significance
Select item 222806	NM_000335.5(SCN5A):c.1671C>G (p.His557Gln)	SCN5A (H557Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 222804	NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys)	SCN5A (E346K)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 165158	NM_000335.5(SCN5A):c.998+5G>A	SCN5A	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 39444	NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	SCN5A (R222Q)	Single nucleotide variant (missense variant +1 more)	Ventricular fibrillation, paroxysmal familial, type 1 +8 more	GPathogenic
Select item 180511	NM_000335.5(SCN5A):c.413T>C (p.Met138Thr)	SCN5A (M138T)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 180519	NM_000335.5(SCN5A):c.393-5C>A	SCN5A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180550	NM_003280.3(TNNC1):c.469A>T (p.Met157Leu)	TNNC1 (M157L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 222505	NM_001148.6(ANK2):c.9871C>T (p.Pro3291Ser)	ANK2 (P3291S +4 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 222763	NM_014476.6(PDLIM3):c.743G>A (p.Arg248His)	PDLIM3 (R200H +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance

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