ClinVar (all) for Orgtrack (Select 505911) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235138	NM_001267550.2(TTN):c.54985dup (p.Ile18329fs)	TTN, TTN-AS1 (I15761fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3233447	NM_004393.6(DAG1):c.112del (p.Ala38fs)	DAG1 (A38fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P	GLikely pathogenic
Select item 3233446	NM_004393.6(DAG1):c.256_259delinsCC (p.Leu86fs)	DAG1 (L86fs)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P	GLikely pathogenic
Select item 3062353	NC_000001.11:g.77926856_77926858del	NEXN	Deletion	Dilated cardiomyopathy 1CC	GUncertain significance
Select item 3062335	NM_020778.5(ALPK3):c.3842G>C (p.Arg1281Pro)	ALPK3 (R1281P)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 3024562	NM_001458.5(FLNC):c.4425G>T (p.Ala1475=)	FLNC	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3024458	NM_015295.3(SMCHD1):c.3801+2T>C	SMCHD1	Single nucleotide variant (splice donor variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 3024103	NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)	USH2A (D411E)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3024102	NM_003244.4(TGIF1):c.16+1805del	TGIF1	Deletion (intron variant +1 more)	Holoprosencephaly 4	GLikely pathogenic
Select item 3024101	NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)	USH2A (Q86L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3024098	NM_001854.4(COL11A1):c.4268G>T (p.Gly1423Val)	COL11A1 (G1435V +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37	GUncertain significance
Select item 3024094	NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)	POLR2F, SOX10 (Y126*)	Insertion (nonsense +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 3024083	NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val)	MYO7A (G711V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3024082	NM_014332.3(SMPX):c.217del (p.Ile73fs)	SMPX (I73fs)	Deletion (non-coding transcript variant +1 more)	Hearing loss, X-linked 4	GLikely pathogenic
Select item 3024080	NM_001277115.2(DNAH11):c.12887T>A (p.Ile4296Asn)	DNAH11 (I4303N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 3024079	NM_001277115.2(DNAH11):c.12179T>G (p.Leu4060Arg)	DNAH11 (L4067R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 3024078	NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter)	CFAP300 (K59*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 38	GLikely pathogenic
Select item 3024077	NM_004999.4(MYO6):c.1405G>A (p.Glu469Lys)	MYO6 (E464K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22	GUncertain significance
Select item 3024076	NM_016239.4(MYO15A):c.8083A>C (p.Lys2695Gln)	MYO15A (K2695Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 3024075	NM_002700.3(POU4F3):c.494_497del (p.His165fs)	LOC127814297, POU4F3 (H165fs)	Deletion (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	GLikely pathogenic
Select item 2949989	NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)	DSP (Q1286*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2774173	NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)	PRKAG2 (S131C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 2692404	NM_004006.3(DMD):c.9110del (p.Gln3037fs)	DMD (Q1693fs +7 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 2690987	NM_013296.5(GPSM2):c.1600+3A>C	GPSM2	Single nucleotide variant (intron variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 2687748	NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)	COL6A1 (K114Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2687747	NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)	RYR1 (H4808R +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 2683842	NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)	SMCHD1 (N507fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 2665104	NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del	MADD, MYBPC3	Deletion	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2664314	NM_007289.4(MME):c.1892G>A (p.Trp631Ter)	MME (W631*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 2663814	NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)	CLTC (M1302fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2663796	NM_001458.5(FLNC):c.6429G>T (p.Gln2143His)	FLNC, FLNC-AS1 (Q2110H +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 2663795	NM_000257.4(MYH7):c.3223C>G (p.Gln1075Glu)	MYH7 (Q1075E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2637898	NM_001127208.3(TET2):c.2196del (p.Ser733fs)	TET2, TET2-AS1 (S733fs)	Deletion (frameshift variant)	Myelodysplastic syndrome	GUncertain significance
Select item 2628017	NM_015295.3(SMCHD1):c.2063G>C (p.Arg688Thr)	SMCHD1 (R688T)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2627666	NM_000166.6(GJB1):c.455T>C (p.Val152Ala)	GJB1 (V152A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 2626777	NM_004006.3(DMD):c.2949+1G>T	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 2583164	NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)	SGCA (Y62*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2582695	NM_007118.4(TRIO):c.7711A>T (p.Asn2571Tyr)	TRIO (N2571Y)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 2582694	NM_032564.5(DGAT2):c.245T>C (p.Val82Ala)	DGAT2 (V82A)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1	GUncertain significance
Select item 2578460	NM_015295.3(SMCHD1):c.2776C>T (p.His926Tyr)	SMCHD1 (H926Y)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2578459	NM_015295.3(SMCHD1):c.5994-11C>G	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2578458	NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)	CAPN3 (R104L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578457	NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)	MPZ (S25fs)	Indel (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate D	GLikely pathogenic
Select item 2578456	NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)	COL6A3 (G1446D +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GPathogenic
Select item 2578455	NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)	SGCG (R32K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2578454	NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)	COL6A1 (G371R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 2578453	NM_006567.5(FARS2):c.862G>C (p.Val288Leu)	FARS2 (V288L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 77	GUncertain significance
Select item 2578452	NM_007289.4(MME):c.655-4A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578417	NM_025137.4(SPG11):c.4339_4346del (p.Gln1447fs)	SPG11 (Q1447fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 2578379	NM_004006.3(DMD):c.3276+2T>C	DMD	Single nucleotide variant (splice donor variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 2578378	NM_001267550.2(TTN):c.50723del (p.Lys16908fs)	TTN, TTN-AS1 (K14340fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2578377	NM_017868.4(TTC12):c.1801A>G (p.Ile601Val)	TTC12 (I576V +3 more)	Single nucleotide variant (missense variant +1 more)	TTC12-related condition	GLikely benign
Select item 2578367	NM_001159699.2(FHL1):c.506G>T (p.Cys169Phe)	FHL1 (C153F +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, reducing body, X-linked, early-onset, severe	GLikely pathogenic
Select item 2578019	NM_020433.5(JPH2):c.35G>A (p.Gly12Glu)	JPH2 (G12E)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E	GUncertain significance
Select item 2503042	NM_001458.5(FLNC):c.4702del (p.Asp1568fs)	FLNC (D1568fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2502887	NM_004006.3(DMD):c.1150-14_1158dup	DMD	Duplication (splice acceptor variant)	Muscular dystrophy	GPathogenic
Select item 2502883	NM_000426.4(LAMA2):c.2755C>G (p.Arg919Gly)	LAMA2 (R919G)	Single nucleotide variant (missense variant)	Muscular dystrophy	GUncertain significance
Select item 2502848	NC_000017.11:g.45982995A>G	MAPT	Single nucleotide variant	Parkinsonian disorder	GUncertain significance
Select item 2502344	NM_004006.3(DMD):c.5048del (p.Thr1683fs)	DMD (T1560fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 2502343	NM_004006.3(DMD):c.5060del (p.Asn1687fs)	DMD (N1564fs +5 more)	Deletion (frameshift variant)	Myopathy	GLikely pathogenic
Select item 2501810	NM_001134407.3(GRIN2A):c.1946T>G (p.Leu649Arg)	GRIN2A (L649R)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 2501805	NM_000257.4(MYH7):c.578A>G (p.Gln193Arg)	MYH7 (Q193R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2500988	NM_004006.3(DMD):c.3004dup (p.Thr1002fs)	DMD (T1002fs +3 more)	Duplication (frameshift variant)	Highly elevated creatine kinase	GPathogenic
Select item 2498206	NM_004006.3(DMD):c.9225-1G>C	DMD	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy	GLikely pathogenic
Select item 2497680	NC_000019.10:g.38455669G>A	RYR1	Single nucleotide variant	Malignant hyperthermia of anesthesia	GUncertain significance
Select item 2444514	NM_000256.3(MYBPC3):c.2905+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GLikely pathogenic
Select item 2444018	NM_001267550.2(TTN):c.79809dup (p.Val26604fs)	TTN-AS1, TTN (V17539fs +5 more)	Duplication (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2443006	NM_001849.4(COL6A2):c.963del (p.Gly322fs)	COL6A2 (G322fs)	Deletion (frameshift variant)	Proximal muscle weakness	GLikely pathogenic
Select item 2443005	NM_001160148.2(DDHD1):c.2662G>T (p.Glu888Ter)	DDHD1 (E860* +2 more)	Single nucleotide variant (nonsense)	Spasticity	GUncertain significance
Select item 2443004	NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)	GARS1 (I488T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2442802	NM_004006.3(DMD):c.5155-719_5155-31del	DMD	Deletion (intron variant)	Proximal muscle weakness +1 more	GLikely pathogenic
Select item 2442391	NM_017739.4(POMGNT1):c.1153-6T>C	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Limb-girdle muscular dystrophy	GUncertain significance
Select item 2442390	NM_172084.3(CAMK2B):c.946+9653_946+9655del	CAMK2B	Deletion (intron variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 2431245	NM_012470.4(TNPO3):c.1043G>A (p.Arg348Gln)	TNPO3 (R300Q +2 more)	Single nucleotide variant (missense variant +2 more)	Scapular winging	GUncertain significance
Select item 2430195	NM_024301.5(FKRP):c.605T>C (p.Leu202Pro)	FKRP (L202P)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy	GUncertain significance
Select item 2430182	NC_000001.11:g.156115286C>T	LMNA	Single nucleotide variant	Cardiomyopathy	GUncertain significance
Select item 2429766	NM_021083.4(XK):c.771G>A (p.Trp257Ter)	XK (W257*)	Single nucleotide variant (nonsense)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 2429442	NM_001035.3(RYR2):c.1172C>T (p.Ala391Val)	RYR2 (A391V)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 2429349	NM_001032221.6(STXBP1):c.808G>A (p.Gly270Ser)	STXBP1 (G256S +2 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 2429345	NM_000166.6(GJB1):c.577T>C (p.Phe193Leu)	GJB1 (F193L)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GLikely pathogenic
Select item 2135981	NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)	MPZ (D60N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2042097	NM_004369.4(COL6A3):c.7029+11G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 1984126	NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)	HSPB8 (A147T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1954495	NM_001378457.1(DMXL2):c.8362G>A (p.Val2788Ile)	DMXL2 (V2692I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1913433	NM_000023.4(SGCA):c.956+14T>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1895447	NM_004208.4(AIFM1):c.511A>C (p.Met171Leu)	RAB33A, AIFM1 (M171L +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 1895446	NM_006158.5(NEFL):c.786C>T (p.Arg262=)	NEFL	Single nucleotide variant (synonymous variant)	Peripheral neuropathy	GUncertain significance
Select item 1879007	NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)	TTN, TTN-AS1 (E15629* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 1810341	NM_007347.5(AP4E1):c.3249T>G (p.Ile1083Met)	AP4E1 (I1008M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809778	NM_004369.4(COL6A3):c.9494-6G>A	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 1802376	NM_001927.4(DES):c.-2C>T	DES	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1802375	NM_024334.3(TMEM43):c.23C>A (p.Thr8Asn)	TMEM43 (T8N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1723186	NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)	SPAST (R391S +3 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1723148	NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter)	BMPR2 (S779*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 1711847	NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)	MFN2 (V443L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1711102	NM_001848.3(COL6A1):c.991_999del (p.328DGV[1])	COL6A1	Deletion (inframe_deletion)	Proximal muscle weakness	GLikely pathogenic
Select item 1705879	NM_004415.4(DSP):c.4044G>A (p.Leu1348=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1704413	NM_003476.5(CSRP3):c.282-1G>A	CSRP3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GLikely pathogenic
Select item 1704254	NM_001134363.3(RBM20):c.164A>G (p.Gln55Arg)	RBM20 (Q55R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1704208	NM_002471.4(MYH6):c.2419G>C (p.Val807Leu)	MYH6 (V807L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance

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