C0349788[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48076	NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	LMNA (A242V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +7 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)	LMNA-related condition +20 more	GPathogenic/Likely pathogenic
Select item 190999	NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)	RYR2 (S3349L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 180501	NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr)	RYR2 (K3589T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 222795	NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu)	LOC126806068, RYR2 (S4377L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 222639	NM_001318895.3(FHL2):c.715T>G (p.Phe239Val)	C2orf49, FHL2 (F239V +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 212473	NM_001267550.2(TTN):c.56963-3C>T	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 192041	NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)	TTN (R5441*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 222858	NM_133379.5(TTN):c.11794G>T (p.Glu3932Ter)	TTN (E3932*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 155844	NM_001267550.2(TTN):c.752A>G (p.His251Arg)	TTN (H251R)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 734	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43 (S358L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 222811	NM_000335.5(SCN5A):c.4514C>T (p.Pro1505Leu)	SCN5A (P1505L +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 222807	NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)	SCN5A (R800H)	Single nucleotide variant (missense variant)	not specified +12 more	GUncertain significance
Select item 67683	NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)	SCN5A (A572D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GBenign/Likely benign
Select item 165158	NM_000335.5(SCN5A):c.998+5G>A	SCN5A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 67978	NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)	SCN5A (R18W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 222501	NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln)	ANK2, LOC126807137 (R2416Q +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 222571	NM_004415.4(DSP):c.265G>A (p.Val89Met)	DSP (V89M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 163237	NM_004415.4(DSP):c.273+5G>A	DSP	Single nucleotide variant (intron variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 36026	NM_004415.4(DSP):c.913A>T (p.Ile305Phe)	DSP (I305F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 44856	NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)	DSP (R425*)	Single nucleotide variant (nonsense)	Familial isolated arrhythmogenic right ventricular dysplasia +7 more	GPathogenic/Likely pathogenic
Select item 44867	NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)	DSP (N593S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 163257	NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)	DSP (Y895C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 44906	NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	DSP (R1458G)	Single nucleotide variant (missense variant +1 more)	DSP-related condition +9 more	GConflicting classifications of pathogenicity
Select item 222578	NM_004415.4(DSP):c.4803G>A (p.Met1601Ile)	DSP (M1601I)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 180330	NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)	DSP (S1629I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 222582	NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)	DSP (R1951* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GPathogenic/Likely pathogenic
Select item 180336	NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)	DSP (K2103E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 222583	NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser)	DSP (T2287S +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 163287	NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)	DSP (R2639Q +2 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 180393	NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu)	LAMA4 (P1162L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 67473	NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)	KCNH2 (L1045F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 222781	NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg)	RBM20 (G780R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 222477	NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT	ABCC9 (L1524fs)	Indel (frameshift variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 222476	NM_020297.4(ABCC9):c.1884del (p.Phe628fs)	ABCC9 (F628fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 6757	NM_001005242.3(PKP2):c.2357+1G>A	PKP2	Single nucleotide variant (splice donor variant +1 more)	Aborted sudden cardiac death +7 more	GPathogenic
Select item 188664	NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)	PKP2 (I822V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 45063	NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	PKP2 (H689fs +1 more)	Indel (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	PKP2-related condition +5 more	GPathogenic
Select item 45056	NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)	PKP2 (R695C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 45055	NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	PKP2 (S688P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 308507	NM_001005242.3(PKP2):c.1840-5G>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 36680	NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)	PKP2 (W538* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +5 more	GPathogenic
Select item 45035	NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)	PKP2 (I531S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 45032	NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)	PKP2 (T526A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 45022	NM_001005242.3(PKP2):c.1378+1G>C	PKP2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 201979	NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	PKP2 (R388W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 45007	NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)	PKP2 (A372P)	Single nucleotide variant (missense variant)	PKP2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 180473	NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro)	PKP2 (L360P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 180472	NM_001005242.3(PKP2):c.1045A>G (p.Met349Val)	PKP2 (M349V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 222766	NM_001005242.3(PKP2):c.1034+1G>A	PKP2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 45003	NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)	PKP2 (T338A)	Single nucleotide variant (missense variant)	PKP2-related condition +6 more	GBenign/Likely benign
Select item 222764	NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)	PKP2 (G327V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 45077	NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)	PKP2 (S140F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 45028	NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	PKP2 (T50fs)	Deletion (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 222835	NM_003239.5(TGFB3):c.521T>A (p.Leu174His)	TGFB3 (L174H)	Single nucleotide variant (missense variant)	Rienhoff syndrome +2 more	GUncertain significance
Select item 222649	NM_005477.3(HCN4):c.2261A>G (p.His754Arg)	HCN4 (H754R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 222663	NM_002230.4(JUP):c.1500A>T (p.Ala500=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180375	NM_002230.4(JUP):c.1366G>A (p.Val456Ile)	JUP (V456I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 222662	NM_002230.4(JUP):c.902A>G (p.Glu301Gly)	JUP (E301G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 222660	NM_002230.4(JUP):c.560C>T (p.Ala187Val)	JUP (A187V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 222743	NM_003803.4(MYOM1):c.2138G>A (p.Arg713His)	MYOM1 (R713H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 46186	NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	DSC2 (A897fs)	Duplication (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 179373	NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)	DSC2 (R875*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 180318	NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)	DSC2 (R833C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 180319	NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)	DSC2 (G790del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 36005	NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)	DSC2 (L732V)	Single nucleotide variant (missense variant)	DSC2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 46160	NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)	DSC2 (T358I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 222557	NM_024422.6(DSC2):c.824C>T (p.Thr275Met)	DSC2 (T275M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 46189	NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)	DSC2 (E102K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 222556	NM_024422.6(DSC2):c.47G>C (p.Arg16Pro)	DSC2, DSCAS (R16P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 16818	NM_001943.5(DSG2):c.166G>A (p.Val56Met)	DSG2 (V56M)	Single nucleotide variant (missense variant)	DSG2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 155784	NM_001943.5(DSG2):c.470C>T (p.Pro157Leu)	DSG2 (P157L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 222561	NM_001943.5(DSG2):c.653G>A (p.Gly218Glu)	DSG2 (G218E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 222562	NM_001943.5(DSG2):c.792T>A (p.Asp264Glu)	DSG2 (D264E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 44278	NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	DSG2 (T335A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 155785	NM_001943.5(DSG2):c.1014+1G>A	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 199805	NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)	DSG2 (A358T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 179902	NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)	DSG2 (K369E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 180320	NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly)	DSG2 (D521G)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 188453	NM_001943.5(DSG2):c.1643G>A (p.Arg548His)	DSG2 (R548H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 222563	NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)	DSG2, DSG2-AS1 (I704V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 222564	NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)	DSG2, DSG2-AS1 (T730A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 222565	NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)	DSG2, DSG2-AS1 (Q731P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 222566	NM_001943.5(DSG2):c.2623A>G (p.Met875Val)	DSG2, DSG2-AS1 (M875V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 199827	NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)	DSG2, DSG2-AS1 (E1020fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 30907	NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)	CALR3 (K82R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19 +1 more	GConflicting classifications of pathogenicity
Select item 180563	NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala)	TRPM4 (D561A +4 more)	Single nucleotide variant (missense variant)	TRPM4-related condition +6 more	GBenign/Likely benign
Select item 155781	NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)	DMD (F571L +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GBenign/Likely benign
Select item 222550	NM_004006.3(DMD):c.531-11_531-6del	DMD	Microsatellite (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity

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Items: 90