"clinsig risk factor"[Properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16212	NM_000815.5(GABRD):c.530A>C (p.Glu177Ala)	GABRD (E177A)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus type 5	Grisk factor
Select item 4659	NM_001365951.3(KIF1B):c.2075A>T (p.Glu692Val)	KIF1B (E646V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1	Grisk factor
Select item 187898	NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)	MTHFR (W561* +1 more)	Single nucleotide variant (nonsense)	Neural tube defects, folate-sensitive +1 more	GPathogenic; risk factor
Select item 2416	NM_032409.3(PINK1):c.1291T>C (p.Tyr431His)	PINK1-AS, PINK1 (Y431H)	Single nucleotide variant (non-coding transcript variant +1 more)	Parkinson disease 6	Grisk factor
Select item 9134	NM_001113348.2(ECE1):c.4-596C>A	ECE1	Single nucleotide variant (intron variant)	Hypertension, essential, susceptibility to	Grisk factor
Select item 9135	NM_001113348.2(ECE1):c.4-1097T>G	ECE1	Single nucleotide variant (intron variant)	Hypertension, essential, susceptibility to	Grisk factor
Select item 8535	NM_017449.5(EPHB2):c.*187A>T	EPHB2 (K1019*)	Single nucleotide variant (3 prime UTR variant +1 more)	Prostate cancer/brain cancer susceptibility	Grisk factor
Select item 242592	NM_016124.6(RHD):c.1063G>A (p.Gly355Ser)	RSRP1, RHD (G355S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Anti-D isoimmunization affecting pregnancy +1 more	Grisk factor
Select item 992481	NM_003665.4(FCN3):c.658+250C>A	FCN3	Single nucleotide variant (intron variant)	Rheumatic heart disease	Grisk factor
Select item 1326	NM_024296.5(CCDC28B):c.330C>T (p.Phe110=)	CCDC28B	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GUncertain significance; risk factor
Select item 39702	NM_006516.4(SLC2A1):c.668G>C (p.Arg223Pro)	SLC2A1 (R223P)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 12	Grisk factor
Select item 375652	NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp)	FOXE3, LINC01389 (G137D)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 11, susceptibility to +2 more	GLikely pathogenic; risk factor
Select item 30118	NM_000098.2(CPT2):c.[1055T>G;1102G>A]	CPT2 (F352C +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	Grisk factor
Select item 6996	NM_004631.5(LRP8):c.2855G>A (p.Arg952Gln)	LRP8 (R952Q +3 more)	Single nucleotide variant (missense variant)	Myocardial infarction 1	Grisk factor
Select item 587698	NM_004872.5(TMEM59):c.*23G>A	TMEM59	Single nucleotide variant (3 prime UTR variant)	Estrogen resistance syndrome	Grisk factor
Select item 889	NR_121634.1(FOXD3-AS1):n.39C>A	FOXD3, FOXD3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	Autoimmune disease, susceptibility to, 1	Grisk factor
Select item 1321339	NM_006820.4(IFI44L):c.873T>A (p.Tyr291Ter)	IFI44L (Y291* +1 more)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321330	NM_006417.5(IFI44):c.732C>G (p.Tyr244Ter)	IFI44 (Y244*)	Single nucleotide variant (nonsense +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 830069	NM_000969.5(RPL5):c.189+267G>C	RPL5, DIPK1A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6	Grisk factor
Select item 8366	NC_000001.11:g.93909753G>A	GCLM, LOC129930970	Single nucleotide variant (genic upstream transcript variant)	Myocardial infarction, susceptibility to	Grisk factor
Select item 8910	NM_015967.6(PTPN22):c.-1123C>G	AP4B1-AS1, PTPN22	Single nucleotide variant	Diabetes mellitus, insulin-dependent, susceptibility to	Grisk factor
Select item 1347	NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln)	VANGL1 (R274Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance; risk factor
Select item 1348	NM_138959.3(VANGL1):c.983T>C (p.Met328Thr)	VANGL1 (M328T +1 more)	Single nucleotide variant (missense variant)	Neural tube defects, susceptibility to	Grisk factor
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	GBA1-related disorder +15 more	GPathogenic; risk factor
Select item 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Rigidity +13 more	GPathogenic/Likely pathogenic; risk factor
Select item 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +13 more	GBenign/Likely benign; risk factor
Select item 9052	NM_020335.3(VANGL2):c.1057C>T (p.Arg353Cys)	VANGL2 (R353C)	Single nucleotide variant (missense variant)	Neural tube defects, susceptibility to	Grisk factor
Select item 9053	NM_020335.3(VANGL2):c.1310T>C (p.Phe437Ser)	VANGL2 (F437S)	Single nucleotide variant (missense variant)	Neural tube defects, susceptibility to	Grisk factor
Select item 1321326	NM_003874.4(CD84):c.319del (p.Tyr107fs)	CD84, LOC105371468 (Y107fs)	Deletion (frameshift variant +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1321336	NM_002348.4(LY9):c.1052_1053del (p.His351fs)	LY9 (H351fs)	Deletion (frameshift variant)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 4895	NM_016382.4(CD244):c.834+526A>G	CD244	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Grisk factor
Select item 12294	NM_007122.5(USF1):c.*187C>T	USF1	Single nucleotide variant (3 prime UTR variant)	Hyperlipidemia, familial combined, susceptibility to	Grisk factor
Select item 12295	NM_007122.5(USF1):c.561-100G>A	USF1	Single nucleotide variant (intron variant)	Hyperlipidemia, familial combined, susceptibility to	Grisk factor
Select item 5466	NM_004001.4(FCGR2B):c.-386G>C	FCGR2B	Single nucleotide variant (genic upstream transcript variant)	Systemic lupus erythematosus, susceptibility to	Grisk factor
Select item 5467	NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr)	FCGR2B (I232T +3 more)	Single nucleotide variant (missense variant +1 more)	Malaria, resistance to +1 more	Gprotective; risk factor
Select item 560215	NM_015935.5(METTL13):c.1631G>A (p.Arg544Gln)	METTL13 (R544Q +2 more)	Single nucleotide variant (missense variant)	Deafness, autosomal recessive 26, modifier of	Grisk factor
Select item 16496	NM_000639.1(FASLG):c.-844C=	FASLG	Single nucleotide variant	LUNG CANCER, SUSCEPTIBILITY TO	Grisk factor
Select item 16552	NM_000186.4(CFH):c.83_86del (p.Arg28fs)	CFH (R28fs)	Deletion (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Grisk factor
Select item 16549	NM_000186.4(CFH):c.1204= (p.His402=)	CFH	Single nucleotide variant (no sequence alteration)	Age related macular degeneration 4 +1 more	GPathogenic; risk factor
Select item 16556	NM_000186.4(CFH):c.1419G>C (p.Ala473=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4	Grisk factor
Select item 16557	NM_000186.4(CFH):c.2237-543=	CFH	Single nucleotide variant (genic downstream transcript variant +1 more)	Age related macular degeneration 4	Grisk factor
Select item 16553	NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)	CFH (Y899*)	Single nucleotide variant (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic; risk factor
Select item 16559	NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter)	CFH (E1172*)	Single nucleotide variant (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Grisk factor
Select item 16548	NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg)	CFH (L1189R)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Grisk factor
Select item 16563	NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter)	CFH (E1198*)	Single nucleotide variant (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Grisk factor
Select item 16542	NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)	CFH (R1215G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +1 more	GPathogenic; risk factor
Select item 16546	NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa)	CFH	Deletion (stop lost)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Grisk factor
Select item 5065	NC_000001.10:g.(196722206_?)_(?_196808505)del	CFHR1, CFHR3	Deletion	Age-related macular degeneration +1 more	GPathogenic; risk factor
Select item 17629	NM_000069.3(CACNA1S):c.3414+67A>G	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1	Grisk factor
Select item 8112	NM_001276.2(CHI3L1):c.-131C>G	CHI3L1	Single nucleotide variant	Asthma-related traits, susceptibility to, 7	Grisk factor
Select item 17065	NM_001006658.2(CR2):c.[-71T>C;1776G>A1916G>A]	CR2, LOC129932399 (S639N)	Single nucleotide variant (synonymous variant +2 more)	Systemic lupus erythematosus, susceptibility to, 9	Grisk factor
Select item 17047	NM_172351.3(CD46):c.98-1G>C	CD46	Single nucleotide variant (splice acceptor variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Grisk factor
Select item 17044	NM_172351.3(CD46):c.800_801del (p.Thr267fs)	CD46 (T267fs)	Microsatellite (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Grisk factor
Select item 17045	NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del)	CD46	Deletion (inframe_deletion)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Grisk factor
Select item 6658	NM_003268.6(TLR5):c.1174C>T (p.Arg392Ter)	TLR5 (R392*)	Single nucleotide variant (nonsense)	Melioidosis, resistance to +2 more	Gprotective; risk factor
Select item 2443850	NM_001386125.1(OBSCN):c.6102G>A (p.Trp2034Ter)	OBSCN (W2034*)	Single nucleotide variant (nonsense +1 more)	Rhabdomyolysis, susceptibility to, 1	Grisk factor
Select item 2443852	NM_001386125.1(OBSCN):c.9563_9576del (p.Leu3188fs)	OBSCN (L2759fs +1 more)	Deletion (frameshift variant)	Rhabdomyolysis, susceptibility to, 1	Grisk factor
Select item 2443849	NM_001386125.1(OBSCN):c.14818C>T (p.Arg4940Ter)	OBSCN (R4940* +1 more)	Single nucleotide variant (nonsense)	Rhabdomyolysis, susceptibility to, 1	Grisk factor
Select item 2443848	NM_001386125.1(OBSCN):c.16230C>A (p.Cys5410Ter)	OBSCN (C5410* +1 more)	Single nucleotide variant (nonsense)	Rhabdomyolysis, susceptibility to, 1	Grisk factor
Select item 5172	NM_018662.3(DISC1):c.[67+5859A>T;791G>A]	DISC1, TSNAX-DISC1 (R264Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Schizophrenia 9	Grisk factor
Select item 1172829	GRCh37/hg19 1q21.1(chr1:145382601-145616000)	ANKRD34A, ANKRD35 +11 more	Copy number loss	Cerebral palsy	Grisk factor
Select item 812169	NC_000002.12:g.634905T>C		Single nucleotide variant	Obesity	Grisk factor
Select item 495047	NM_004036.5(ADCY3):c.3348CTT[2] (p.Phe1118del)	ADCY3, CENPO (F1118del +4 more)	Microsatellite (inframe_deletion +2 more)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 495044	NM_004036.5(ADCY3):c.3315del (p.Ile1106fs)	ADCY3, CENPO (I1107fs +4 more)	Deletion (frameshift variant +2 more)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 495046	NM_004036.5(ADCY3):c.2578-1G>A	ADCY3	Single nucleotide variant (splice acceptor variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 495043	NM_004036.5(ADCY3):c.2433-1G>A	ADCY3	Single nucleotide variant (intron variant +1 more)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 495045	NM_004036.5(ADCY3):c.1268del (p.Gly423fs)	ADCY3 (G423fs)	Deletion (frameshift variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 18084	NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)	ALK (G1128A +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GPathogenic/Likely pathogenic; risk factor
Select item 5671	NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	SPAST (S44L)	Single nucleotide variant (missense variant)	SPAST-related disorder +5 more	GBenign/Likely benign; other; risk factor
Select item 30095	NM_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs)	NRXN1 (G1362fs +20 more)	Duplication (frameshift variant)	Schizophrenia 17	Grisk factor
Select item 46	NM_015910.7(WDPCP):c.624G>C (p.Leu208Phe)	WDPCP (L208F +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 12, modifier of	Grisk factor
Select item 47	NM_015910.7(WDPCP):c.164G>A (p.Arg55Lys)	WDPCP (R55K +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 6, modifier of	Grisk factor
Select item 4390	NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr)	ANTXR1 (A326T)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	Grisk factor
Select item 8403	NM_004082.5(DCTN1):c.1712T>C (p.Met571Thr)	DCTN1 (M571T +6 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +1 more	GUncertain significance; risk factor
Select item 30583	NM_013247.5(HTRA2):c.427C>G (p.Pro143Ala)	HTRA2 (P143A)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	Grisk factor
Select item 110	NM_017849.4(TMEM127):c.149dup (p.Pro51fs)	TMEM127 (P51fs)	Duplication (frameshift variant)	Pheochromocytoma +1 more	GLikely pathogenic; risk factor
Select item 8364	NM_006267.5(RANBP2):c.1958C>T (p.Thr653Ile)	RANBP2 (T653I)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	Grisk factor
Select item 14671	NM_000576.2(IL1B):c.-118C>T	IL1B	Single nucleotide variant	Gastric cancer susceptibility after h. pylori infection	Grisk factor
Select item 14674	NM_173842.3(IL1RN):c.206-516ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC[2]	IL1RN	Microsatellite (intron variant)	Gastric cancer susceptibility after h. pylori infection +1 more	GPathogenic; risk factor
Select item 39693	NM_004807.3(HS6ST1):c.1210A>G (p.Met404Val)	HS6ST1 (M404V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 15 with anosmia	Grisk factor
Select item 39692	NM_004807.3(HS6ST1):c.968G>A (p.Arg323Gln)	HS6ST1 (R323Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 15 with anosmia	Grisk factor
Select item 7607	NM_000726.5(CACNB4):c.1444C>T (p.Arg482Ter)	CACNB4 (R482* +9 more)	Single nucleotide variant (nonsense)	Epilepsy, juvenile myoclonic, susceptibility to, 6	Grisk factor
Select item 31932	NM_003151.4(STAT4):c.274-23582=	STAT4	Single nucleotide variant (intron variant)	Systemic lupus erythematosus, susceptibility to, 11	Grisk factor
Select item 9232	NM_000578.4(SLC11A1):c.198C>T (p.Phe66=)	SLC11A1	Single nucleotide variant (synonymous variant)	Mycobacterium tuberculosis, susceptibility to infection by	Grisk factor
Select item 9233	NM_000578.4(SLC11A1):c.1627G>A (p.Asp543Asn)	SLC11A1 (D543N)	Single nucleotide variant (missense variant)	Buruli ulcer, susceptibility to	Grisk factor
Select item 29761	NM_005544.3(IRS1):c.2911G>A (p.Gly971Arg)	IRS1 (G971R)	Single nucleotide variant (missense variant)	Insulin resistance, susceptibility to +1 more	Grisk factor
Select item 756	NM_001103146.3(GIGYF2):c.832A>G (p.Ile278Val)	GIGYF2 (I278V +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	Grisk factor
Select item 757	NM_001103146.3(GIGYF2):c.1262A>G (p.Lys421Arg)	GIGYF2 (K421R +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	Grisk factor
Select item 754	NM_001103146.3(GIGYF2):c.1370A>C (p.Asn457Thr)	GIGYF2 (N457T +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	Grisk factor
Select item 755	NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu)	GIGYF2 (D606E +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	Grisk factor
Select item 5096	NM_023083.4(CAPN10):c.471-187T>C	CAPN10	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus 1, susceptibility to +1 more	Grisk factor
Select item 5093	NM_023083.4(CAPN10):c.471-176G>A	CAPN10	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus 1, susceptibility to	Grisk factor
Select item 5094	NM_023083.4(CAPN10):c.997+136_998-148dup	CAPN10	Duplication (intron variant)	Type 2 diabetes mellitus 1, susceptibility to	Grisk factor
Select item 5095	NC_000002.12:g.240603286C>T	CAPN10	Single nucleotide variant	Type 2 diabetes mellitus 1, susceptibility to	Grisk factor
Select item 9251	NM_005018.3(PDCD1):c.627+189G>C	PDCD1	Single nucleotide variant (intron variant)	Systemic lupus erythematosus, association wit 2 +1 more	Grisk factor
Select item 8292	NM_033337.3(CAV3):c.290T>G (p.Phe97Cys)	CAV3, OXTR (F97C)	Single nucleotide variant (missense variant)	Long QT syndrome 9, acquired, susceptibility to	Grisk factor
Select item 3430	NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala)	CRELD1 (P162A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	Grisk factor
Select item 3431	NM_001077415.3(CRELD1):c.1240G>A (p.Glu414Lys)	CRELD1 (E414K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Atrioventricular septal defect, susceptibility to, 2	Grisk factor
Select item 5061	NM_016362.5(GHRL):c.152G>A (p.Arg51Gln)	GHRL, GHRLOS (R51Q +3 more)	Single nucleotide variant (missense variant +1 more)	Obesity +1 more	Grisk factor
Select item 8131	NM_138711.6(PPARG):c.28C>G (p.Pro10Ala)	PPARG (P12A +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, noninsulin-dependent, modifier of +3 more	Grisk factor

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