ClinVar (all) for Orgtrack (Select 506996) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574117	NM_000546.6(TP53):c.489_495del (p.Lys164fs)	TP53 (K125fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 2574116	NM_000038.6(APC):c.6474del (p.Phe2159fs)	APC (F1775fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 2574115	NM_000455.5(STK11):c.1036_1037del (p.Gly346fs)	LOC130062899, STK11 (G346fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 2574114	NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)	SCN5A (Y168*)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome 1 +1 more	GLikely pathogenic
Select item 2574113	NM_000335.5(SCN5A):c.3388-1G>C	SCN5A	Single nucleotide variant (splice acceptor variant)	Brugada syndrome 1 +1 more	GLikely pathogenic
Select item 2574112	NM_000321.3(RB1):c.402dup (p.Leu135fs)	RB1 (L135fs)	Duplication (frameshift variant)	Retinoblastoma	GLikely pathogenic
Select item 2574111	NM_000257.4(MYH7):c.427C>G (p.Arg143Gly)	MYH7 (R143G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 2574110	NM_000257.4(MYH7):c.4178T>C (p.Leu1393Pro)	MYH7 (L1393P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 2574109	NM_000038.6(APC):c.4667del (p.Thr1556fs)	APC (T1172fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 2574108	NM_000256.3(MYBPC3):c.1280C>A (p.Ser427Ter)	MYBPC3 (S427*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2574107	NM_000218.3(KCNQ1):c.788del (p.Ile263fs)	KCNQ1 (I136fs +2 more)	Deletion (frameshift variant +1 more)	Long QT syndrome 1	GPathogenic
Select item 2574106	NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter)	KCNQ1 (S246* +2 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 2574105	NM_000179.3(MSH6):c.457+1G>A	MSH6 (G153D)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5	GLikely pathogenic
Select item 2574104	NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)	FBN1 (G2114*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 2574103	NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)	FBN1 (V1756A)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2574102	NM_000038.6(APC):c.2803dup (p.Tyr935fs)	APC (Y551fs +18 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 2574101	NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)	FBN1 (H1336fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 2574100	NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)	FBN1 (E1003*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 2574099	NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)	COL3A1 (G933*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2574098	NM_000090.4(COL3A1):c.1762-1G>T	COL3A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2574097	NM_000090.4(COL3A1):c.1663-1G>T	COL3A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2574096	NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)	COL3A1 (Q380*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2574095	NM_000038.6(APC):c.135+1G>A	APC	Single nucleotide variant (splice donor variant +1 more)	Familial adenomatous polyposis 1 +1 more	GLikely pathogenic
Select item 2574094	NM_000059.4(BRCA2):c.6841G>T (p.Gly2281Ter)	BRCA2 (G2281* +1 more)	Single nucleotide variant (nonsense +3 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 2574093	NM_000059.4(BRCA2):c.607_610dup (p.Leu204fs)	BRCA2 (L204fs +1 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 2574092	NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)	PALB2 (Q105* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast	GPathogenic/Likely pathogenic
Select item 2574091	NM_024675.4(PALB2):c.2835-1G>T	PALB2	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2574090	NM_024675.4(PALB2):c.1933del (p.Glu645fs)	PALB2 (E350fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2574089	NM_024675.4(PALB2):c.1916_1926del (p.Glu639fs)	PALB2 (E344fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2574088	NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)	LOC129934333, TMEM127 (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2574087	NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)	TMEM127 (S62*)	Single nucleotide variant (nonsense +1 more)	Pheochromocytoma	GLikely pathogenic
Select item 2574086	NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)	SMAD3 (Q23*)	Single nucleotide variant (nonsense)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 2574085	NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)	SMAD3 (Y121S +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 2574084	NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)	DSP (E1989* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574083	NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)	DSP (G1349fs +2 more)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574082	NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)	DSP (Q1560*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574081	NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)	DSP (L1469fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574080	NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)	DSP (Q1446*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574079	NM_004329.3(BMPR1A):c.614C>A (p.Ser205Ter)	BMPR1A (S177* +3 more)	Single nucleotide variant (nonsense +2 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2574078	NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)	TGFBR2 (Q324* +8 more)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 2	GPathogenic
Select item 2574077	NM_003002.4(SDHD):c.117del (p.Ile40fs)	SDHD (I40fs)	Deletion (non-coding transcript variant +2 more)	Paragangliomas 1	GLikely pathogenic
Select item 2574076	NM_003000.3(SDHB):c.72+2T>G	LOC129929542, SDHB	Single nucleotide variant (splice donor variant)	Paragangliomas 4	GLikely pathogenic
Select item 2574075	NM_001458.5(FLNC):c.711del (p.Glu238fs)	FLNC (E238fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2574074	NM_001458.5(FLNC):c.4875del (p.Phe1626fs)	FLNC (F1626fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 26	GPathogenic
Select item 2574073	NM_001458.5(FLNC):c.4172C>A (p.Ser1391Ter)	FLNC (S1391*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 2574072	NM_001458.5(FLNC):c.3790+1G>C	FLNC	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 2574071	NM_001458.5(FLNC):c.3636C>G (p.Tyr1212Ter)	FLNC (Y1212*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 2574070	NM_001458.5(FLNC):c.1714C>T (p.Gln572Ter)	FLNC (Q572*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 2574069	NM_001370259.2(MEN1):c.116T>A (p.Leu39Ter)	MEN1 (L39*)	Single nucleotide variant (nonsense +1 more)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 2574068	NM_001267550.2(TTN):c.99909del (p.Leu33303_Leu33304insTer)	LOC126806420, TTN +1 more	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574067	NM_001267550.2(TTN):c.97141_97145del (p.Leu32381fs)	TTN, TTN-AS1 (L23316fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574066	NM_001267550.2(TTN):c.95738del (p.Pro31913fs)	TTN, TTN-AS1 (P22848fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574065	NM_001267550.2(TTN):c.92173dup (p.Ile30725fs)	TTN, TTN-AS1 (I21660fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574064	NM_001267550.2(TTN):c.91257del (p.Val30420fs)	TTN, TTN-AS1 (V21355fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574063	NM_001267550.2(TTN):c.89449G>T (p.Gly29817Ter)	TTN, TTN-AS1 (G20752* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574062	NM_001267550.2(TTN):c.86140G>T (p.Gly28714Ter)	TTN, TTN-AS1 (G19649* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574061	NM_001267550.2(TTN):c.84969T>A (p.Tyr28323Ter)	TTN, TTN-AS1 (Y19258* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574060	NM_001267550.2(TTN):c.8017A>T (p.Lys2673Ter)	TTN (K2627* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574059	NM_001267550.2(TTN):c.72463del (p.Ile24155fs)	TTN, TTN-AS1 (I15090fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574058	NM_001267550.2(TTN):c.69292_69299dup (p.Ala23101fs)	TTN, TTN-AS1 (A14036fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574057	NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)	LOC126806423, TTN +1 more (S13631* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574056	NM_001267550.2(TTN):c.67613del (p.Thr22538fs)	LOC126806423, TTN +1 more (T13473fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574055	NM_001267550.2(TTN):c.64752_64756del (p.Leu21585fs)	TTN, TTN-AS1 (L12520fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574054	NM_001267550.2(TTN):c.57998_57999del (p.Lys19333fs)	TTN, TTN-AS1 (K10268fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574053	NM_000059.4(BRCA2):c.1125del (p.Phe376fs)	BRCA2 (F376fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 2574052	NM_001267550.2(TTN):c.48305G>A (p.Trp16102Ter)	TTN, TTN-AS1 (W13534* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574051	NM_001267550.2(TTN):c.3283del (p.Glu1095fs)	TTN (E1049fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574050	NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)	TTN, TTN-AS1 (S26019* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574049	NM_001267550.2(TTN):c.103710G>A (p.Trp34570Ter)	TTN, TTN-AS1 (W25505* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574048	NM_001267550.2(TTN):c.102953T>G (p.Leu34318Ter)	TTN, TTN-AS1 (L25253* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574047	NM_001114753.3(ENG):c.991+2T>A	ENG	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 2498344	NM_000138.5(FBN1):c.7699+2T>C	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome	GPathogenic
Select item 2498343	NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)	FBN1 (R539Q)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely benign
Select item 2498342	NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)	FBN1 (T1362S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2498341	NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)	FBN1, LOC126862124 (D1404G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2498340	NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)	FBN1 (E2248del)	Deletion (inframe_indel +1 more)	Marfan syndrome	GLikely pathogenic
Select item 2498339	NM_000138.5(FBN1):c.1464dup (p.Ile489fs)	FBN1 (I489fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 2498338	NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)	FBN1 (G2802V)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2126182	NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)	TTN, TTN-AS1 (Q17309* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2031879	NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)	TTN, TTN-AS1 (W17164* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1789413	NM_017849.4(TMEM127):c.230del (p.Pro77fs)	TMEM127 (P77fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1786092	NM_000535.7(PMS2):c.211_214del (p.Asn71fs)	PMS2 (N71fs)	Deletion (frameshift variant +2 more)	Lynch syndrome 4 +2 more	GPathogenic
Select item 1784666	NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)	MSH2 (S224* +8 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1776440	NM_000251.3(MSH2):c.1613dup (p.Asn538fs)	MSH2 (N472fs +1 more)	Duplication (frameshift variant)	Lynch syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1763360	NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)	MSH6 (V152fs +1 more)	Insertion (frameshift variant +1 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 1485695	NM_000138.5(FBN1):c.2855-2A>G	FBN1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 1453360	NM_000038.6(APC):c.7927_7928del (p.Leu2643fs)	APC (L2360fs +12 more)	Microsatellite (frameshift variant)	Classic or attenuated familial adenomatous polyposis +3 more	GPathogenic/Likely pathogenic
Select item 1319403	NM_000546.6(TP53):c.148dup (p.Ile50fs)	TP53 (I11fs +1 more)	Duplication (frameshift variant)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 1075095	NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)	MSH2 (Y749* +1 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 1074703	NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)	ACVRL1 (Q357*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1070306	NM_000038.6(APC):c.3724C>T (p.Gln1242Ter)	APC (Q1082* +12 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 1	GPathogenic
Select item 1065119	NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr)	RYR1 (C2237Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 982467	NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)	LOC102723566, ENG (E323* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 968402	NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter)	KCNH2 (Q335* +3 more)	Single nucleotide variant (nonsense)	Long QT syndrome	GPathogenic
Select item 951452	NM_000251.3(MSH2):c.792+1G>C	MSH2	Single nucleotide variant (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely 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 933181	NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)	PALB2 (S1084*)	Single nucleotide variant (nonsense)	Malignant tumor of breast	GLikely pathogenic
Select item 930360	NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)	LOC130057352, SMAD3 (M1L)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 823404	NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)	BRCA2 (S3231*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 805637	NM_000545.8(HNF1A):c.872del (p.Pro291fs)	HNF1A (P291fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database

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