ClinVar (all) for Orgtrack (Select 21766) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076077	NM_005912.3(MC4R):c.706del (p.Arg236fs)	MC4R (R236fs)	Deletion (frameshift variant)	Obesity due to melanocortin 4 receptor deficiency	GLikely pathogenic
Select item 3076076	NM_005912.3(MC4R):c.906T>G (p.Tyr302Ter)	MC4R (Y302*)	Single nucleotide variant (nonsense)	Obesity due to melanocortin 4 receptor deficiency	GLikely pathogenic
Select item 3076075	NM_005912.3(MC4R):c.346_347del (p.Ser116fs)	MC4R (S116fs)	Microsatellite (frameshift variant)	Obesity due to melanocortin 4 receptor deficiency	GPathogenic
Select item 3076074	NM_001005242.3(PKP2):c.1378G>A (p.Gly460Ser)	PKP2 (D460N +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076073	NM_001267550.2(TTN):c.62751del (p.Val20918fs)	TTN, TTN-AS1 (V11853fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076072	NC_000014.9:g.(?_23412738)_(23420234_?)del	MIR208B, LOC126861897 +2 more	Deletion	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076071	NM_001005242.3(PKP2):c.385C>T (p.Gln129Ter)	PKP2 (Q129* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076070	NM_000527.5(LDLR):c.1988_2140+1064del	LDLR	Deletion (splice acceptor variant +2 more)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076069	NM_000138.5(FBN1):c.762dup (p.Gly255fs)	FBN1 (G255fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3076068	NM_000218.3(KCNQ1):c.191del (p.Pro64fs)	KCNQ1 (P64fs)	Deletion (frameshift variant +1 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 3076067	NM_000020.3(ACVRL1):c.852_853del (p.Tyr286fs)	ACVRL1 (Y182fs +2 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 3076066	NM_000059.4(BRCA2):c.5921dup (p.Cys1975fs)	BRCA2 (C1975fs)	Duplication (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076065	NM_000059.4(BRCA2):c.4555_4556del (p.Pro1519fs)	BRCA2 (P1519fs)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076064	NM_000059.4(BRCA2):c.2488_2489insG (p.Asn830fs)	BRCA2 (N830fs)	Insertion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076063	NM_003000.3(SDHB):c.81del (p.Gly28fs)	SDHB (G28fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3076062	NC_000019.10:g.(?_11110652)_(11110771_?)dup	LDLR	Duplication	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076061	NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)	TSC1 (E538* +15 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis syndrome	GLikely pathogenic
Select item 3076060	NM_004612.4(TGFBR1):c.1131-1G>A	TGFBR1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3076059	NM_020975.6(RET):c.1296= (p.Ala432=)	RET	Variation (synonymous variant +2 more)	not specified	GBenign
Select item 3076058	NM_000546.6(TP53):c.784_785insAAGCC (p.Gly262fs)	TP53 (G103fs +3 more)	Insertion (frameshift variant +1 more)	Li-Fraumeni syndrome	GLikely pathogenic
Select item 3076057	NM_000531.6(OTC):c.865_866del (p.Lys289fs)	OTC (K289fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3076056	NM_000368.5(TSC1):c.1264-1G>C	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076055	NC_000019.10:g.(?_11111514)_(11111639_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076054	NC_000019.10:g.(?_11128008)_(11128085_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076053	NM_000368.5(TSC1):c.2626-2del	TSC1	Deletion (splice acceptor variant)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076052	NM_000059.4(BRCA2):c.3969_3970insCT (p.Tyr1324fs)	BRCA2 (Y1324fs)	Insertion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076051	NM_001267550.2(TTN):c.77421C>A (p.Tyr25807Ter)	TTN-AS1, TTN (Y16742* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076050	NM_000090.4(COL3A1):c.570del (p.Pro191fs)	COL3A1 (P191fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 3076049	NM_001267550.2(TTN):c.13357_13358del (p.Glu4453fs)	TTN (E4090fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076048	NC_000019.10:g.(?_11110652)_(11111639_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GPathogenic
Select item 3076047	NM_001267550.2(TTN):c.90040G>T (p.Gly30014Ter)	TTN, TTN-AS1 (G20949* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076046	NM_000548.5(TSC2):c.4067dup (p.Ile1357fs)	TSC2 (I1090fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076045	NM_001370259.2(MEN1):c.1270dup (p.Glu424fs)	MEN1 (E389fs +5 more)	Duplication (frameshift variant +2 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 3076044	NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs)	KCNH2 (A1017fs +2 more)	Insertion (frameshift variant +1 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 3076043	NM_004415.4(DSP):c.4577del (p.Asn1526fs)	DSP (N1526fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3076042	NC_000007.14:g.150952854dup	KCNH2	Duplication	Congenital long QT syndrome	GLikely pathogenic
Select item 3076041	NM_000094.4(COL7A1):c.3139+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica	GLikely pathogenic
Select item 3076040	NM_000138.5(FBN1):c.1121dup (p.Pro374_Glu375insTer)	LOC113939944, FBN1	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3076039	NM_000548.5(TSC2):c.4613dup (p.Ser1539fs)	TSC2 (S1024fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076038	NM_000138.5(FBN1):c.7735dup (p.His2579fs)	FBN1 (H2579fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3076037	NM_000251.3(MSH2):c.115dup (p.Arg39fs)	MSH2 (R39fs)	Duplication (frameshift variant +3 more)	Lynch syndrome	GPathogenic
Select item 3076036	NM_004415.4(DSP):c.3110dup (p.Leu1037fs)	DSP (L1037fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076035	NM_000256.3(MYBPC3):c.77dup (p.Ala27fs)	MYBPC3 (A27fs)	Duplication (frameshift variant)	Cardiomyopathy	GPathogenic
Select item 3076034	NM_000256.3(MYBPC3):c.2367dup (p.Val790fs)	MYBPC3 (V790fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 3076033	NM_003242.6(TGFBR2):c.455-1G>A	TGFBR2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 3076032	NM_182758.4(WDR72):c.2019dup (p.Trp674fs)	WDR72 (W674fs)	Duplication (frameshift variant +1 more)	Amelogenesis imperfecta	GLikely pathogenic
Select item 3076031	NC_000001.11:g.45331557del	MUTYH	Deletion	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3076030	NM_005787.6(ALG3):c.921C>A (p.Cys307Ter)	ALG3 (C259* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 3076029	NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs)	KCNH2 (T1019fs +2 more)	Insertion (frameshift variant +1 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 3076028	NM_000335.5(SCN5A):c.2954del (p.Leu985fs)	LOC110121269, SCN5A (L985fs)	Deletion (frameshift variant +1 more)	Brugada syndrome	GLikely pathogenic
Select item 3076027	NM_000238.4(KCNH2):c.2692+1del	KCNH2	Deletion (splice donor variant)	Congenital long QT syndrome	GLikely pathogenic
Select item 3076026	NC_000011.10:g.47333753dup	MYBPC3	Duplication	Hypertrophic cardiomyopathy	GPathogenic
Select item 3076025	NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer)	KCNH2	Deletion (nonsense +1 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 3076024	NM_000059.4(BRCA2):c.2556_2557insATCAGATT (p.Gln853fs)	BRCA2 (Q853fs)	Insertion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076023	NM_000501.4(ELN):c.1957G>T (p.Gly653Ter)	ELN (G643* +11 more)	Single nucleotide variant (nonsense)	Supravalvar aortic stenosis	GPathogenic
Select item 3076022	NM_001005242.3(PKP2):c.20del (p.Pro7fs)	PKP2 (P7fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076021	NM_000368.5(TSC1):c.2626-2A>T	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076020	NM_000059.4(BRCA2):c.5233dup (p.Met1745fs)	BRCA2 (M1745fs)	Duplication (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076019	NM_000020.3(ACVRL1):c.404del (p.Leu135fs)	ACVRL1 (L135fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 3076018	NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs)	KCNH2 (D556fs +2 more)	Deletion (frameshift variant +1 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 3076017	NM_001005242.3(PKP2):c.971_972insCGCCT (p.Ala326fs)	PKP2 (A217fs +1 more)	Insertion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076016	NM_001005242.3(PKP2):c.12del (p.Gly5fs)	PKP2 (G5fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076015	NM_000238.4(KCNH2):c.2692+2_2692+4del	KCNH2	Deletion (splice donor variant)	Congenital long QT syndrome	GLikely pathogenic
Select item 3076014	NM_001292063.2(OTOG):c.4768del (p.Arg1590fs)	OTOG (R1590fs +1 more)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3076013	NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)	PMS2 (S113* +2 more)	Single nucleotide variant (intron variant +3 more)	Lynch syndrome	GPathogenic
Select item 3076012	NM_000384.3(APOB):c.4139_4140del (p.Thr1380fs)	APOB (T1380fs)	Microsatellite (frameshift variant)	Hypobetalipoproteinemia	GLikely pathogenic
Select item 3076011	NM_020975.6(RET):c.1860C>A (p.Cys620Ter)	RET (C137* +12 more)	Single nucleotide variant (nonsense +1 more)	Aganglionic megacolon	GPathogenic
Select item 3076010	NM_000384.3(APOB):c.8898dup (p.His2967fs)	APOB (H2967fs)	Duplication (frameshift variant)	Hypobetalipoproteinemia	GLikely pathogenic
Select item 3076009	NM_001018115.3(FANCD2):c.1278+1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 3076008	NM_001399.5(EDA):c.382del (p.Gln128fs)	EDA (Q128fs)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3076007	NM_001378609.3(OTOGL):c.119+1G>A	OTOGL	Single nucleotide variant (splice donor variant)	Rare genetic deafness	GLikely pathogenic
Select item 3076006	NM_016341.4(PLCE1):c.1845dup (p.Gly616fs)	PLCE1 (G308fs +1 more)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3076005	NM_000063.6(C2):c.1063C>T (p.Arg355Ter)	C2, C2-AS1 (R109* +4 more)	Single nucleotide variant (nonsense)	Complement component 2 deficiency	GUncertain significance
Select item 3076004	NC_000023.11:g.(?_69956687)_(69957126_?)del	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3076003	NM_002103.5(GYS1):c.989_992del (p.Gly330fs)	GYS1 (G266fs +1 more)	Microsatellite (frameshift variant +1 more)	Glycogen storage disease	GLikely pathogenic
Select item 3076002	NM_174916.3(UBR1):c.2840-1G>A	UBR1	Single nucleotide variant (splice acceptor variant)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 3076001	NM_019032.6(ADAMTSL4):c.1786C>T (p.Gln596Ter)	ADAMTSL4, ADAMTSL4-AS2 (Q596* +1 more)	Single nucleotide variant (nonsense)	Isolated ectopia lentis	GPathogenic
Select item 3076000	NM_001267550.2(TTN):c.81988C>T (p.Gln27330Ter)	TTN, TTN-AS1 (Q18265* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075999	NC_000015.10:g.(?_48410990)_(48644769_?)del	FBN1, LOC113939944 +5 more	Deletion	Marfan syndrome	GPathogenic
Select item 3075998	NM_000138.5(FBN1):c.5266del (p.Val1756fs)	FBN1 (V1756fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3075997	NC_000023.11:g.(?_69616225)_(69616454_?)del	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3075996	NM_000260.4(MYO7A):c.1935+4A>T	MYO7A	Single nucleotide variant (intron variant)	Rare genetic deafness	GLikely pathogenic
Select item 3075995	NM_207421.4(PADI6):c.721C>T (p.Gln241Ter)	PADI6 (Q241*)	Single nucleotide variant (nonsense)	Preimplantation embryonic lethality 2	GLikely pathogenic
Select item 3075994	NM_017613.4(DONSON):c.938del (p.Gly313fs)	DONSON (G313fs)	Deletion (frameshift variant)	Microcephaly, short stature, and limb abnormalities	GLikely pathogenic
Select item 3075993	NM_201548.5(CERKL):c.1177C>T (p.Gln393Ter)	CERKL (Q280* +4 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 3075992	NM_002857.4(PEX19):c.606del (p.Trp202fs)	PEX19 (W202fs)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders	GLikely pathogenic
Select item 3075991	NM_001083961.2(WDR62):c.1495C>T (p.Gln499Ter)	WDR62 (Q382* +2 more)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 3075990	NM_000138.5(FBN1):c.6013_6014insTA (p.Ser2005fs)	FBN1 (S2005fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 3075989	NM_001142864.4(PIEZO1):c.5040C>A (p.Tyr1680Ter)	PIEZO1 (Y1194* +1 more)	Single nucleotide variant (nonsense)	Diffuse lymphatic malformation	GLikely pathogenic
Select item 3075988	NM_001077365.2(POMT1):c.184del (p.Asp62fs)	POMT1 (D62fs +1 more)	Deletion (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely pathogenic
Select item 3075987	NM_198503.5(KCNT2):c.2910+7375C>T	KCNT2 (R898*)	Single nucleotide variant (nonsense +2 more)	not specified	GLikely benign
Select item 3075986	NM_182931.3(KMT2E):c.544dup (p.Glu182fs)	KMT2E (E182fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075985	NM_016580.4(PCDH12):c.954C>A (p.Tyr318Ter)	PCDH12, RNF14 (Y318*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia	GLikely pathogenic
Select item 3075984	NM_001851.6(COL9A1):c.1029del (p.Gly344fs)	COL9A1 (G101fs +1 more)	Deletion (frameshift variant +1 more)	Stickler syndrome	GLikely pathogenic
Select item 3075983	NM_004036.5(ADCY3):c.2108G>A (p.Trp703Ter)	ADCY3 (W462* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3075982	NM_173628.4(DNAH17):c.7020dup (p.Asp2341fs)	DNAH17, DNAH17-AS1 (D2341fs)	Duplication (frameshift variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 3075981	NM_207352.4(CYP4V2):c.47G>A (p.Trp16Ter)	CYP4V2, LOC129993526 (W16*)	Single nucleotide variant (nonsense)	Bietti crystalline corneoretinal dystrophy	GLikely pathogenic
Select item 3075980	NM_001195263.2(PDZD7):c.2211del (p.Gln737fs)	PDZD7 (Q737fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075979	NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)	VWF (W502*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 3075978	NM_001267550.2(TTN):c.34312_34313insTTCT (p.Pro11438fs)	TTN (P11438fs)	Insertion (frameshift variant +1 more)	not specified	GLikely benign

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