C0949658[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222849	NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)	TRIM63 (Q247*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 180560	NM_032588.4(TRIM63):c.650A>G (p.Tyr217Cys)	TRIM63 (Y217C)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 222847	NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr)	TRIM63 (C75Y)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180559	NM_032588.4(TRIM63):c.143C>T (p.Ala48Val)	TRIM63 (A48V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 30994	NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)	NEXN (R279C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 47886	NM_144573.4(NEXN):c.1053+1G>A	NEXN	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 222753	NM_144573.4(NEXN):c.1400T>C (p.Ile467Thr)	NEXN (I467T +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 222691	NM_170707.4(LMNA):c.378C>G (p.Asp126Glu)	LMNA, LOC126805877 (D126E +2 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
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 180405	NM_170707.4(LMNA):c.1381-5G>A	LMNA	Single nucleotide variant (intron variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +14 more	GUncertain significance
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 43677	NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	TNNT2 (R286H +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 180555	NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg)	TNNT2 (G285R +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 180556	NM_001276345.2(TNNT2):c.878T>A (p.Val293Asp)	TNNT2 (V283D +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43667	NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)	TNNT2 (E244D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 155842	NM_001276345.2(TNNT2):c.610A>G (p.Thr204Ala)	TNNT2 (T194A +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 177807	NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)	TNNT2 (F110L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 43627	NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)	TNNT2 (R102W +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GPathogenic
Select item 43612	NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)	TNNT2 (A36P +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 180257	NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys)	ACTN2 (R28C)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 201627	NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)	ACTN2 (R93Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +6 more	GConflicting classifications of pathogenicity
Select item 179815	NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr)	ACTN2 (R169T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +5 more	GConflicting classifications of pathogenicity
Select item 43893	NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp)	ACTN2 (R353W +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 180258	NM_001103.4(ACTN2):c.1070G>A (p.Arg357His)	ACTN2 (R357H +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 412273	NM_001103.4(ACTN2):c.1180C>T (p.Arg394Trp)	ACTN2 (R394W +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 222484	NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys)	ACTN2 (E636K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 373800	NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp)	ACTN2 (R662W +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +6 more	GConflicting classifications of pathogenicity
Select item 222485	NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu)	ACTN2 (R796L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +3 more	GUncertain significance
Select item 155773	NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr)	ACTN2 (A833T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 180489	NM_001035.3(RYR2):c.2630A>C (p.His877Pro)	RYR2 (H877P)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 180491	NM_001035.3(RYR2):c.3049A>G (p.Thr1017Ala)	RYR2 (T1017A)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180492	NM_001035.3(RYR2):c.3080G>A (p.Arg1027Lys)	RYR2 (R1027K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 43769	NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	RYR2 (E1127G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GConflicting classifications of pathogenicity
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 165099	NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser)	RYR2 (N1669S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 222787	NM_001035.3(RYR2):c.5204G>A (p.Ser1735Asn)	RYR2 (S1735N)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 222788	NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)	RYR2 (R1888Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 222790	NM_001035.3(RYR2):c.6203G>T (p.Arg2068Leu)	RYR2 (R2068L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180496	NM_001035.3(RYR2):c.6793-4G>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 222791	NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)	RYR2 (A2673V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180500	NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)	RYR2 (N3308S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GLikely benign
Select item 222792	NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)	RYR2 (L3366F)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 180503	NM_001035.3(RYR2):c.12379A>C (p.Asn4127His)	RYR2 (N4127H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 155834	NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr)	LOC126806068, RYR2 (M4256T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 222798	NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)	RYR2 (E4428del)	Microsatellite (inframe_deletion)	Primary familial hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 222796	NM_001035.3(RYR2):c.13285A>T (p.Lys4429Ter)	RYR2 (K4429*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 222797	NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys)	RYR2 (W4724C)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 45366	NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser)	SOS1 (P1235S +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 222638	NM_001318895.3(FHL2):c.340A>G (p.Lys114Glu)	FHL2, C2orf49 (K114E +1 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 222864	NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)	LOC129935183, TTN +1 more (L35312* +5 more)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 178153	NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)	TTN, TTN-AS1 (E32357A +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 137813	NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)	TTN, TTN-AS1 (F31805L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +10 more	GUncertain significance
Select item 155847	NM_001267550.2(TTN):c.64072G>A (p.Val21358Met)	TTN-AS1, TTN (V12418M +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 47197	NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)	TTN, TTN-AS1 (I21197V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 180572	NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln)	TTN-AS1, TTN (R10317Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GBenign/Likely benign
Select item 155846	NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala)	TTN, TTN-AS1 (T10183A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 180570	NM_001267550.2(TTN):c.53519A>G (p.Lys17840Arg)	TTN-AS1, TTN (K17840R +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180568	NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)	TTN (A15408T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 178221	NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)	TTN (P10722T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 46901	NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)	TTN (E11416del +2 more)	Microsatellite (inframe_deletion +1 more)	Limb-girdle muscular dystrophy, recessive +10 more	GConflicting classifications of pathogenicity
Select item 180571	NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)	TTN (E10911K +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 180569	NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)	TTN (Y7706C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 46684	NM_001267550.2(TTN):c.21404-4A>G	LOC126806428, TTN	Single nucleotide variant (intron variant)	Tibial muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 180566	NM_001267550.2(TTN):c.15500C>A (p.Pro5167His)	TTN (P3923H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 155845	NM_001267550.2(TTN):c.12027T>G (p.Tyr4009Ter)	TTN (Y3771* +4 more)	Single nucleotide variant (nonsense +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180583	NM_133379.5(TTN):c.16515_16516insA (p.Glu5506fs)	TTN (E5506fs)	Insertion (frameshift variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
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 180565	NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile)	TTN (V3319I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 180577	NM_001267550.2(TTN):c.2775+4G>A	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +5 more	GBenign/Likely benign
Select item 180564	NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)	TTN (A743T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 222542	NM_001927.4(DES):c.643G>A (p.Val215Met)	DES (V215M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +7 more	GConflicting classifications of pathogenicity
Select item 222544	NM_001927.4(DES):c.1297C>A (p.Pro433Thr)	DES (P433T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic 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 40605	NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)	RAF1 (P261A +3 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 13958	NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	RAF1 (P261S +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 222774	NM_002880.4(RAF1):c.779C>T (p.Thr260Ile)	RAF1 (T260I +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 40600	NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)	RAF1 (S257P +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 180543	NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)	TMEM43 (R220C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 788	NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	GPD1L (I124V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 180518	NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn)	SCN5A (S1933N +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +7 more	GUncertain significance
Select item 9380	NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)	SCN5A (R1512W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 9392	NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)	SCN5A (R1193Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +13 more	GBenign/Likely benign
Select item 180514	NM_000335.5(SCN5A):c.1975C>T (p.Arg659Trp)	SCN5A (R659W)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 180521	NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)	SCN5A (A572F)	Indel (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 180520	NM_000335.5(SCN5A):c.1140+1G>A	SCN5A	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 222802	NM_000335.5(SCN5A):c.725C>T (p.Ala242Val)	SCN5A (A242V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180510	NM_000335.5(SCN5A):c.328G>A (p.Ala110Thr)	SCN5A (A110T)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 222738	NM_000258.3(MYL3):c.571C>G (p.His191Asp)	MYL3 (H191D)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 222739	NM_000258.3(MYL3):c.560-3C>T	MYL3	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 36648	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)	MYL3 (E177G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 8 +5 more	GUncertain significance
Select item 180443	NM_000258.3(MYL3):c.482-6T>C	MYL3	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 31778	NM_000258.3(MYL3):c.466G>A (p.Val156Met)	MYL3 (V156M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 222737	NM_000258.3(MYL3):c.451G>A (p.Ala151Thr)	MYL3 (A151T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180442	NM_000258.3(MYL3):c.447G>A (p.Met149Ile)	MYL3 (M149I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 222736	NM_000258.3(MYL3):c.383G>A (p.Gly128Asp)	MYL3 (G128D)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 43121	NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	MYL3 (A57D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 180470	NM_014476.6(PDLIM3):c.773G>A (p.Gly258Glu)	PDLIM3 (G258E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 222589	NM_004415.4(DSP):c.598-4G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 155787	NM_004415.4(DSP):c.1315G>A (p.Val439Ile)	DSP (V439I)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance

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