ClinVar for MedGen (Select 90951) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682366	NM_001458.5(FLNC):c.1880_1887del (p.Asp627fs)	FLNC (D627fs)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 2573647	NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs)	TTN, TTN-AS1 (E26897fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 2566447	NM_001267550.2(TTN):c.75568del (p.Ala25190fs)	TTN, TTN-AS1 (A16125fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 2506085	NM_001267550.2(TTN):c.99874del (p.Asp33292fs)	TTN, TTN-AS1 +1 more (D24227fs +5 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 2506077	NM_001267550.2(TTN):c.85511_85512del (p.Glu28504fs)	TTN, TTN-AS1 (E19439fs +5 more)	Microsatellite (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 2503852	NM_001267550.2(TTN):c.8983del (p.Glu2995fs)	TTN (E2949fs +1 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 2501279	NM_001267550.2(TTN):c.61614del (p.Ala20539fs)	TTN-AS1, TTN (A11474fs +5 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 2445865	NM_001267550.2(TTN):c.83339_83342del (p.Lys27780fs)	TTN, TTN-AS1 (K18715fs +5 more)	Microsatellite (frameshift variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1908101	NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)	LOC129935183, TTN +1 more (P26185fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 1878393	NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter)	TTN, TTN-AS1 (W20615* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 1745432	NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)	TTN, TTN-AS1 (G17052fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 1710106	NM_001458.5(FLNC):c.4584dup (p.Phe1529fs)	FLNC (F1529fs)	Duplication (frameshift variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710105	NM_001458.5(FLNC):c.4581-2A>G	FLNC	Single nucleotide variant (splice acceptor variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710104	NM_001458.5(FLNC):c.4346C>G (p.Ser1449Ter)	FLNC (S1449*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710103	NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)	FLNC (Q1315*)	Single nucleotide variant (nonsense)	Dilated Cardiomyopathy, Dominant +4 more	GPathogenic
Select item 1710102	NM_001458.5(FLNC):c.3908dup (p.Tyr1303Ter)	FLNC (Y1303*)	Duplication (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710101	NM_001458.5(FLNC):c.2405del (p.Gly802fs)	FLNC (G802fs)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710100	NM_001458.5(FLNC):c.617G>A (p.Trp206Ter)	FLNC (W206*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710099	NM_001458.5(FLNC):c.7581del (p.Ile2527fs)	FLNC, FLNC-AS1 (I2494fs +1 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 1710098	NM_001458.5(FLNC):c.7316_7317del (p.Val2439fs)	FLNC-AS1, FLNC (V2406fs +1 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710097	NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)	FLNC, FLNC-AS1 (Q2270* +1 more)	Single nucleotide variant (nonsense)	Dilated Cardiomyopathy, Dominant +4 more	GPathogenic
Select item 1710096	NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter)	FLNC, FLNC-AS1 (Q2215* +1 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710095	NM_001458.5(FLNC):c.5503C>T (p.Gln1835Ter)	FLNC, FLNC-AS1 (Q1802* +1 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 1710094	NM_001458.5(FLNC):c.5142C>A (p.Tyr1714Ter)	FLNC (Y1714*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710093	NM_001458.5(FLNC):c.404G>A (p.Trp135Ter)	FLNC (W135*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1704615	NM_001267550.2(TTN):c.55200_55204delinsG (p.Val18401fs)	TTN, TTN-AS1 (V9336fs +5 more)	Indel (frameshift variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1698599	NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs)	TTN, TTN-AS1 (R11266fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 1696009	NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)	TTN (Q12086* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1339753	NM_001267550.2(TTN):c.98468dup (p.Asp32823fs)	TTN, TTN-AS1 (D23758fs +5 more)	Duplication (non-coding transcript variant +1 more)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1339672	NM_001134363.3(RBM20):c.2687del (p.Glu896fs)	RBM20 (E896fs)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1074155	NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)	FLNC, FLNC-AS1 (K2558fs +1 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 26 +4 more	GPathogenic/Likely pathogenic
Select item 1066477	NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)	TTN, TTN-AS1 (S24831* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 1065903	NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)	TTN, TTN-AS1 (R13204* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GPathogenic/Likely pathogenic
Select item 977738	NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter)	LOC126806422, TTN +1 more (Q14215* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 970757	NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs)	TTN, TTN-AS1 (K8348fs +5 more)	Microsatellite (frameshift variant)	Primary familial dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 941144	NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)	TTN, TTN-AS1 (R16290* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +8 more	GPathogenic/Likely pathogenic
Select item 915963	GRCh37/hg19 17p13.2(chr17:3394299-3632836)	ASPA, CTNS +8 more	Copy number loss	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 691694	NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)	TTN-AS1, TTN (Q14578* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 684873	NM_001267550.2(TTN):c.85295del (p.Leu28432fs)	TTN, TTN-AS1 (L19367fs +5 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 684869	NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter)	TTN, TTN-AS1 (W25554* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684860	NM_032578.4(MYPN):c.109C>T (p.Pro37Ser)	MYPN (P37S)	Single nucleotide variant (missense variant +2 more)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 684858	NM_001267550.2(TTN):c.12523_12524del (p.Gln4175fs)	TTN (Q3812fs +4 more)	Microsatellite (frameshift variant +1 more)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684853	NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu)	ACTN2 (M658L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 684852	NM_004006.3(DMD):c.4428G>T (p.Met1476Ile)	DMD (M132I +5 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 684849	NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr)	DSG2, DSG2-AS1 (S862T)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +2 more	GUncertain significance
Select item 684848	NM_001134363.3(RBM20):c.3245T>C (p.Leu1082Pro)	RBM20 (L1082P)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 684844	NM_002471.4(MYH6):c.2500C>T (p.Leu834Phe)	MYH6 (L834F)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 684839	NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter)	NEXN (E311* +1 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 684838	NM_001267550.2(TTN):c.72663del (p.Pro24223fs)	TTN, TTN-AS1 (P15158fs +5 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 684834	NM_000116.5(TAFAZZIN):c.699+5G>A	TAFAZZIN	Single nucleotide variant (intron variant)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 684833	NM_170707.4(LMNA):c.*722T>C	LMNA (C572R)	Single nucleotide variant (missense variant +1 more)	Primary familial dilated cardiomyopathy +1 more	GUncertain significance
Select item 684831	NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln)	TNNT2 (E114Q +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684828	NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter)	DSP (Q1156*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 684827	NM_000117.3(EMD):c.265+2T>A	EMD	Single nucleotide variant (splice donor variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684824	NM_001458.5(FLNC):c.7385-1G>A	FLNC, FLNC-AS1	Single nucleotide variant (splice acceptor variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684823	NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)	MYH7 (F312L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 684822	NM_000337.6(SGCD):c.25C>T (p.His9Tyr)	SGCD (H8Y +1 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +4 more	GUncertain significance
Select item 684821	NM_014000.3(VCL):c.2935A>G (p.Lys979Glu)	VCL (K979E)	Single nucleotide variant (missense variant +1 more)	Primary familial dilated cardiomyopathy +1 more	GUncertain significance
Select item 684820	NM_004006.3(DMD):c.4082G>A (p.Arg1361Lys)	DMD (R1238K +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 684819	NM_170707.4(LMNA):c.296G>C (p.Arg99Pro)	LMNA (R99P)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684816	NM_004281.4(BAG3):c.969_972del (p.Lys324fs)	BAG3 (K324fs)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 684807	NM_001267550.2(TTN):c.65655del (p.Thr21886fs)	TTN, TTN-AS1 (T12821fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684797	NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter)	TTN (Q3727* +4 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 684786	NM_032578.4(MYPN):c.1859C>G (p.Thr620Ser)	MYPN (T326S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 684783	NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)	DSP (R1255K)	Single nucleotide variant (missense variant +1 more)	Primary familial dilated cardiomyopathy +8 more	GUncertain significance
Select item 659807	NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)	MYPN (G847V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +5 more	GConflicting classifications of pathogenicity
Select item 646981	NM_007078.3(LDB3):c.1696A>G (p.Met566Val)	LDB3 (M456V +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 620418	NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)	FLNC (R1657*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 26 +6 more	GPathogenic/Likely pathogenic
Select item 620373	NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	FLNC (R1341*)	Single nucleotide variant (nonsense)	FLNC-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 598745	NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)	TAX1BP3, P2RX5-TAX1BP3 (M78T)	Single nucleotide variant (non-coding transcript variant +2 more)	Primary familial dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 582494	NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)	TTN, TTN-AS1 (S34924* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 523699	NM_170707.4(LMNA):c.611T>A (p.Leu204Gln)	LMNA (L204Q +2 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 523696	NM_000335.5(SCN5A):c.4165A>G (p.Thr1389Ala)	SCN5A (T1389A +2 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 520538	NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala)	RBM20 (G1151A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 520533	NM_002471.4(MYH6):c.735T>G (p.Phe245Leu)	MYH6 (F245L)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 520526	NM_002230.4(JUP):c.1622A>T (p.His541Leu)	JUP (H541L)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +3 more	GUncertain significance
Select item 520520	NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)	DMD (A3118S +8 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 520507	NM_020297.4(ABCC9):c.1859G>A (p.Arg620Gln)	ABCC9 (R620Q +1 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +3 more	GUncertain significance
Select item 520506	NM_020297.4(ABCC9):c.337G>A (p.Val113Ile)	ABCC9 (V113I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +2 more	GUncertain significance
Select item 520481	NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter)	TTN, TTN-AS1 (W17194* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 520476	NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)	TTN, TTN-AS1 (E30236* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 520450	NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn)	MYBPC3 (T1109N)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +4 more	GUncertain significance
Select item 520447	NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)	LMNA (W498* +2 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +2 more	GPathogenic
Select item 520446	NM_170707.4(LMNA):c.334G>A (p.Glu112Lys)	LMNA (E112K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 520443	NM_004415.4(DSP):c.249G>A (p.Met83Ile)	DSP (M83I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GConflicting classifications of pathogenicity
Select item 520442	NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)	DSP (Y2770C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 520441	NM_004415.4(DSP):c.1357C>T (p.Pro453Ser)	DSP (P453S)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 520440	NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp)	DSP (G2319D +2 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +6 more	GUncertain significance
Select item 518779	NM_020297.4(ABCC9):c.2190C>A (p.His730Gln)	ABCC9 (H730Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 518481	NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)	RYR2 (H3233R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 517279	NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)	SCN5A (R535*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 514275	NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)	DMD (R2571Q +6 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 488810	NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)	TTN, TTN-AS1 (G25912* +5 more)	Single nucleotide variant (nonsense)	Tibial muscular dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 466636	NM_001267550.2(TTN):c.53259del (p.Lys17753fs)	LOC126806425, TTN +1 more (K15185fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +3 more	GPathogenic/Likely pathogenic
Select item 451748	NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)	TTN, TTN-AS1 (E28483* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GPathogenic/Likely pathogenic
Select item 450709	NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)	MYBPC3 (P121L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 430269	NM_001267550.2(TTN):c.89197+1G>C	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 429894	NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter)	TTN, TTN-AS1 (Y15577* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +1 more	GPathogenic
Select item 427243	NM_004281.4(BAG3):c.836C>A (p.Ser279Ter)	BAG3 (S279*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 424832	NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]			Congenital muscular dystrophy	GLikely pathogenic

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