C0878544[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 14498	NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	LMNA (R298C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 245964	NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	LMNA (T496M +2 more)	Single nucleotide variant (missense variant)	not provided +18 more	GConflicting classifications of pathogenicity
Select item 48045	NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)	LMNA (G523R +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 14499	NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	LMNA (R527H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GPathogenic
Select item 200963	NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)	LMNA (R490S +1 more)	Indel (missense variant +1 more)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 66864	NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)	LMNA (S553L +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +15 more	GConflicting classifications of pathogenicity
Select item 161291	NM_170707.4(LMNA):c.1931G>A (p.Arg644His)	LMNA (R532H +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal tight skin contracture syndrome +5 more	GConflicting classifications of pathogenicity
Select item 201210	NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)	RYR2 (A391G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GUncertain significance
Select item 178115	NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	RYR2 (R647C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GUncertain significance
Select item 178121	NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)	RYR2 (T2107M)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 1332608	NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)	RYR2 (F2304S)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 387716	NM_001035.3(RYR2):c.6958G>A (p.Val2320Met)	RYR2 (V2320M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 691652	NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)	RYR2 (L2592V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 201390	NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)	RYR2 (Q2754H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 629423	NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)	RYR2 (A3064T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 180582	NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)	LOC129935184, TTN +1 more (S35172del +5 more)	Deletion (inframe_deletion)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 47656	NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)	TTN, TTN-AS1 (K34293E +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 165664	NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)	TTN, TTN-AS1 (V30899G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 281787	NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)	TTN, TTN-AS1 (S30347G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 282429	NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)	TTN, TTN-AS1 (R29926H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 47422	NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)	TTN, TTN-AS1 (V27761I +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 592738	NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn)	TTN, TTN-AS1 (K27012N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 47277	NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	LOC126806422, TTN +1 more (G23274D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 96298	NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)	TTN, TTN-AS1 (E20374K +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 202779	NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)	TTN-AS1, TTN (D19624N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 47126	NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)	TTN, TTN-AS1 (L19196V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 179411	NM_001267550.2(TTN):c.49648+2del	TTN, TTN-AS1	Deletion (splice donor variant)	not provided +10 more	GPathogenic
Select item 195546	NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)	TTN, TTN-AS1 (R15838Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 166093	NM_001267550.2(TTN):c.39044-9T>A	TTN	Single nucleotide variant (intron variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1329131	NM_001267550.2(TTN):c.31473G>A (p.Met10491Ile)	TTN (M10174I +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 626412	NM_001267550.2(TTN):c.30503C>T (p.Thr10168Met)	TTN (T10168M +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 202355	NM_001267550.2(TTN):c.29042-2A>C	TTN	Single nucleotide variant (intron variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GConflicting classifications of pathogenicity
Select item 1030136	NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn)	TTN (D7749N +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 46717	NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)	TTN (D7768N +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 46671	NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)	TTN (E6781K +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 46661	NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)	LOC126806429, TTN (P6580S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 137839	NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)	LOC126806430, TTN (I6321V +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 46648	NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)	LOC126806430, TTN (V6286I +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 405160	NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)	TTN (A4846T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 178258	NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)	TTN (E3692K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 196801	NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)	TTN (H2508R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 202501	NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)	LOC101927055, TTN (M1529fs +1 more)	Microsatellite (frameshift variant +1 more)	Primary dilated cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 691763	NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn)	TTN (D842N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193219	NM_001927.4(DES):c.216C>A (p.Ser72Arg)	DES (S72R)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 67712	NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	SCN5A (Q692K)	Single nucleotide variant (missense variant)	Long QT syndrome +11 more	GConflicting classifications of pathogenicity
Select item 14063	NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	MYL3 (E143K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 181571	NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn)	TNNC1 (D25N)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 12443	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	TNNC1 (A8V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 1030793	NM_004415.4(DSP):c.2054G>C (p.Arg685Thr)	DSP (R685T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GUncertain significance
Select item 188465	NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)	DSP (Y1188H)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 199884	NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	DSP (R1400*)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 161227	NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)	DSP (R1775I)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 36024	NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)	DSP (A2655G +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +4 more	GConflicting classifications of pathogenicity
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	HFE-related disorder +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 13637	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	CEP85L, PLN (L39*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1P +7 more	GPathogenic/Likely pathogenic
Select item 191523	NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly)	AKAP9 (R3255G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 464285	NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)	LDB3 (R564Q +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1030760	NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys)	BAG3 (R477C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +3 more	GUncertain significance
Select item 181102	NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	MYBPC3 (Y1136del)	Microsatellite (inframe_deletion)	Brugada syndrome +8 more	GConflicting classifications of pathogenicity
Select item 177701	NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)	MYBPC3 (C1124*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 42706	NM_000256.3(MYBPC3):c.3330+5G>C	MYBPC3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 8621	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +6 more	GPathogenic
Select item 840397	NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)	MYBPC3 (R1073W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 1005344	NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met)	MYBPC3 (V1038M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 42650	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3 (W890*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 161308	NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	MYBPC3 (V771M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GConflicting classifications of pathogenicity
Select item 181121	NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)	MYBPC3 (M555T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 42556	NM_000256.3(MYBPC3):c.1624+4A>T	MYBPC3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 42541	NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	MYBPC3 (R502Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 42540	NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	MYBPC3 (R502W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +8 more	GPathogenic/Likely pathogenic
Select item 42537	NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	MYBPC3 (R495G)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GPathogenic/Likely pathogenic
Select item 164140	NM_000256.3(MYBPC3):c.833delG	MYBPC3	Deletion	Left ventricular noncompaction 10 +5 more	GPathogenic/Likely pathogenic
Select item 42784	NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	MYBPC3 (V219L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 181039	NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)	MYBPC3 (E165D)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 192108	NM_020297.4(ABCC9):c.4512+746_4512+747insT	ABCC9 (V1525fs)	Insertion (frameshift variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type +4 more	GConflicting classifications of pathogenicity
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GPathogenic
Select item 419977	NM_001005242.3(PKP2):c.1379-2047_1379-2043del	PKP2 (N480fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GConflicting classifications of pathogenicity
Select item 201976	NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)	PKP2 (Y221*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 208631	NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)	MIPEP (E602*)	Single nucleotide variant (nonsense)	Cardiomyopathy +2 more	GPathogenic
Select item 208628	NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)	MIPEP (L582R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 208633	NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	MIPEP (H512D)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +3 more	GConflicting classifications of pathogenicity
Select item 208632	NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)	MIPEP (K343E)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 208630	NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe)	MIPEP (L306F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 208629	NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln)	MIPEP (L71Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 208634	GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	Cardiomyopathy +2 more	GPathogenic
Select item 36627	NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)	MYH6 (G585S)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 43088	NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	MYH7 (E1914K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 378215	NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	MYH7	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1S +9 more	GConflicting classifications of pathogenicity
Select item 222730	NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)	LOC126861897, MHRT +1 more (R1634H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +10 more	GUncertain significance
Select item 43003	NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	MYH7 (R1420W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 228907	NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)	MYH7 (M1046I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 164312	NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	MYH7 (E930Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +9 more	GPathogenic/Likely pathogenic
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GPathogenic/Likely pathogenic
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +18 more	GPathogenic/Likely pathogenic
Select item 14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7 (V606M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +9 more	GPathogenic/Likely pathogenic

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