ClinVar (all) for Orgtrack (Select 505849) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2775397	NM_000138.5(FBN1):c.8197A>G (p.Thr2733Ala)	FBN1 (T2733A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2775396	NM_000138.5(FBN1):c.8226+6T>A	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2775395	NM_000138.5(FBN1):c.8227G>A (p.Asp2743Asn)	FBN1 (D2743N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2775394	NM_000138.5(FBN1):c.8249A>C (p.Asn2750Thr)	FBN1 (N2750T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2775393	NM_000138.5(FBN1):c.8503C>A (p.Pro2835Thr)	FBN1 (P2835T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2775392	NM_004415.4(DSP):c.*2A>G	DSP	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 2775391	NM_004415.4(DSP):c.8611C>T (p.His2871Tyr)	DSP (H2272Y +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775390	NM_004415.4(DSP):c.8558C>T (p.Thr2853Ile)	DSP (T2254I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775389	NM_004415.4(DSP):c.8525G>T (p.Arg2842Leu)	DSP (R2842L +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775388	NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala)	DSP (G2237A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775387	NM_004415.4(DSP):c.8498_8499insCCGCTCCGGATC (p.Arg2846_Arg2847insSerGlySerArg)	DSP	Insertion (inframe_insertion)	Cardiomyopathy	GUncertain significance
Select item 2775386	NM_004415.4(DSP):c.8482G>T (p.Gly2828Cys)	DSP (G2385C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775385	NM_004415.4(DSP):c.8453A>T (p.Asn2818Ile)	DSP (N2219I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775384	NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)	DSP (D2197N +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 2775383	NM_004415.4(DSP):c.8379G>A (p.Met2793Ile)	DSP (M2350I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775382	NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)	DSP (L2338F +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 2775381	NM_004415.4(DSP):c.8319C>T (p.Ile2773=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775380	NM_004415.4(DSP):c.8249C>G (p.Ala2750Gly)	DSP (A2151G +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775379	NM_000038.6(APC):c.5818_5821del (p.Ile1940fs)	APC (I1839fs +18 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2775378	NM_004415.4(DSP):c.8151G>C (p.Trp2717Cys)	DSP (W2118C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775377	NM_004415.4(DSP):c.8095G>A (p.Glu2699Lys)	DSP (E2100K +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775376	NM_004415.4(DSP):c.8082_8085del (p.Ala2694_Phe2695insTer)	DSP	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2775375	NM_004415.4(DSP):c.8075del (p.Gln2692fs)	DSP (Q2093fs +2 more)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2775374	NM_000038.6(APC):c.5804A>G (p.Gln1935Arg)	APC (Q1775R +18 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2775373	NM_004415.4(DSP):c.8018A>T (p.Asp2673Val)	DSP (D2074V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775372	NM_004415.4(DSP):c.8005C>T (p.Leu2669=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 2775371	NM_004415.4(DSP):c.7989A>G (p.Pro2663=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 2775370	NM_004415.4(DSP):c.7935C>T (p.Ile2645=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2775369	NM_004415.4(DSP):c.7857T>C (p.Ile2619=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775368	NM_004415.4(DSP):c.7761T>C (p.His2587=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775367	NM_004415.4(DSP):c.7628T>A (p.Phe2543Tyr)	DSP (F2543Y +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775366	NM_004415.4(DSP):c.7547G>C (p.Arg2516Thr)	DSP (R2073T +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775365	NM_004415.4(DSP):c.7545C>G (p.Thr2515=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775364	NM_004415.4(DSP):c.7521C>T (p.Thr2507=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775363	NM_004415.4(DSP):c.7489T>A (p.Cys2497Ser)	DSP (C1898S +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775362	NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)	DSP (Q2037* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 2775361	NM_004415.4(DSP):c.7365A>G (p.Thr2455=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775360	NM_004415.4(DSP):c.7303A>G (p.Lys2435Glu)	DSP (K1992E +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775359	NM_004415.4(DSP):c.7270C>T (p.Leu2424Phe)	DSP (L1981F +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775358	NM_000038.6(APC):c.5782C>A (p.Gln1928Lys)	APC (Q1544K +18 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2775357	NM_004415.4(DSP):c.7077C>A (p.Ile2359=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 2775356	NM_004415.4(DSP):c.7004C>T (p.Ala2335Val)	DSP (A1892V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775355	NM_004415.4(DSP):c.6992C>G (p.Ser2331Cys)	DSP (S1732C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775354	NM_004415.4(DSP):c.6901A>G (p.Ile2301Val)	DSP (I1702V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775353	NM_004415.4(DSP):c.6886G>A (p.Ala2296Thr)	DSP (A1697T +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775352	NM_004415.4(DSP):c.6865C>T (p.Leu2289=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 2775351	NM_004415.4(DSP):c.6740G>A (p.Gly2247Asp)	DSP (G1804D +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775350	NM_004415.4(DSP):c.6653C>T (p.Thr2218Ile)	DSP (T1619I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775349	NM_004415.4(DSP):c.6622A>T (p.Met2208Leu)	DSP (M1609L +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775348	NM_004415.4(DSP):c.6537_6538del (p.Lys2180fs)	DSP (K1737fs +2 more)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 2775347	NM_004415.4(DSP):c.6520G>A (p.Asp2174Asn)	DSP (D1575N +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775346	NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)	DSP (S1562F +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2775345	NM_004415.4(DSP):c.6465T>C (p.Asp2155=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775344	NM_004415.4(DSP):c.6453G>A (p.Arg2151=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely benign
Select item 2775343	NM_004415.4(DSP):c.6444C>T (p.Ala2148=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775342	NM_004415.4(DSP):c.6380C>T (p.Ala2127Val)	DSP (A2127V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775341	NM_004415.4(DSP):c.6290A>C (p.Asp2097Ala)	DSP (D1654A +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775340	NM_004415.4(DSP):c.6267A>T (p.Ala2089=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775339	NM_004415.4(DSP):c.6225G>A (p.Arg2075=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775338	NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)	DSP (I2059T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775337	NM_000038.6(APC):c.5742A>T (p.Ala1914=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2775336	NM_004415.4(DSP):c.6099G>A (p.Glu2033=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2775335	NM_004415.4(DSP):c.6096A>G (p.Val2032=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775334	NM_004415.4(DSP):c.6047G>A (p.Gly2016Glu)	DSP (G1417E +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775333	NM_004415.4(DSP):c.5997G>A (p.Lys1999=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775332	NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)	DSP (R1344I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 2775331	NM_004415.4(DSP):c.5816T>C (p.Ile1939Thr)	DSP (I1496T +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775330	NM_004415.4(DSP):c.5802A>T (p.Arg1934=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775329	NM_004415.4(DSP):c.5792_5793insGAGTTAGATA (p.Glu1931_Arg1932insSerTer)	DSP	Microsatellite (nonsense +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 2775328	NM_004415.4(DSP):c.5597A>G (p.Gln1866Arg)	DSP (Q1267R +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2775327	NM_000038.6(APC):c.5709C>A (p.Asn1903Lys)	APC (N1743K +18 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2775326	NM_004415.4(DSP):c.5380-9C>T	DSP	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 2775325	NM_004415.4(DSP):c.5364A>G (p.Gln1788=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +2 more	GLikely benign
Select item 2775324	NM_004415.4(DSP):c.5326G>A (p.Glu1776Lys)	DSP (E1776K)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775323	NM_004415.4(DSP):c.5321A>G (p.Gln1774Arg)	DSP (Q1774R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775322	NM_004415.4(DSP):c.5299C>T (p.Gln1767Ter)	DSP (Q1767*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2775321	NM_004415.4(DSP):c.5212C>A (p.Arg1738=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 2775320	NM_004415.4(DSP):c.5120A>G (p.Gln1707Arg)	DSP (Q1707R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775319	NM_004415.4(DSP):c.5004A>G (p.Leu1668=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 2775318	NM_004415.4(DSP):c.4984G>A (p.Glu1662Lys)	DSP (E1662K)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775317	NM_004415.4(DSP):c.4919T>G (p.Leu1640Arg)	DSP (L1640R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775316	NM_004415.4(DSP):c.4896C>T (p.Asp1632=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 2775315	NM_004415.4(DSP):c.4877AGA[1] (p.Lys1627del)	DSP (K1627del)	Microsatellite (inframe_deletion +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775314	NM_004415.4(DSP):c.4875del (p.Lys1626fs)	DSP (K1626fs)	Deletion (frameshift variant +1 more)	Cardiomyopathy +2 more	GPathogenic
Select item 2775313	NM_004415.4(DSP):c.4678C>G (p.Gln1560Glu)	DSP (Q1560E)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775312	NM_004415.4(DSP):c.4552_4553del (p.Asn1518fs)	DSP (N1518fs)	Deletion (frameshift variant +1 more)	Cardiomyopathy	GPathogenic
Select item 2775311	NM_004415.4(DSP):c.4536T>A (p.Tyr1512Ter)	DSP (Y1512*)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy	GPathogenic
Select item 2775310	NM_004415.4(DSP):c.4490G>C (p.Arg1497Pro)	DSP (R1497P)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775309	NM_004415.4(DSP):c.4355G>T (p.Arg1452Ile)	DSP (R1452I)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775308	NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)	DSP (Q1446R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2775307	NM_004415.4(DSP):c.4322C>G (p.Ser1441Cys)	DSP (S1441C)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775306	NM_004415.4(DSP):c.4305C>A (p.Ala1435=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 2775305	NM_004415.4(DSP):c.4259C>T (p.Thr1420Ile)	DSP (T1420I)	Single nucleotide variant (intron variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775304	NM_004415.4(DSP):c.4252C>G (p.Gln1418Glu)	DSP (Q1418E)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775303	NM_004415.4(DSP):c.4022G>T (p.Arg1341Leu)	DSP (R1341L)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775302	NM_004415.4(DSP):c.3989T>A (p.Leu1330His)	DSP (L1330H)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775301	NM_004415.4(DSP):c.3985A>G (p.Arg1329Gly)	DSP (R1329G)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775300	NM_004415.4(DSP):c.3805C>G (p.Arg1269Gly)	DSP (R1269G)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2775299	NM_004415.4(DSP):c.3790A>G (p.Thr1264Ala)	DSP (T1264A)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2775298	NM_004415.4(DSP):c.3757A>T (p.Ile1253Phe)	DSP (I1253F)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance

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