Nonacosane-14,16-dione - ClinVar - NCBI

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The following terms were not found in ClinVar: Nonacosane, dione.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2918189	NM_003327.4(TNFRSF4):c.41C>T (p.Ala14Val)	TNFRSF4 (A14V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 1385033	NM_003327.4(TNFRSF4):c.40G>A (p.Ala14Thr)	TNFRSF4 (A14T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 1343188	NM_001042681.2(RERE):c.1727G>A (p.Arg576Gln)	RERE (R22Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2318221	NM_001042681.2(RERE):c.1715T>C (p.Met572Thr)	RERE (M18T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690937	NM_001042681.2(RERE):c.1648G>A (p.Asp550Asn)	RERE (D550N)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GUncertain significance
Select item 2378031	NM_001042681.2(RERE):c.1568G>A (p.Arg523Gln)	RERE (R523Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1017021	NM_005026.5(PIK3CD):c.2055+4A>G	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1064359	NM_005026.5(PIK3CD):c.2055+5G>A	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign; other
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 570071	NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	MTHFR (R52Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2282	NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	MFN2 (R468H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +7 more	GConflicting classifications of pathogenicity
Select item 694952	NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)	MFN2 (P587S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 214649	NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)	MFN2 (A716T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 3191923	NM_003443.3(ZBTB17):c.2381C>T (p.Thr794Ile)	ZBTB17 (T731I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333855	NM_003443.3(ZBTB17):c.2329C>T (p.Arg777Cys)	ZBTB17 (R777C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191922	NM_003443.3(ZBTB17):c.2254G>A (p.Asp752Asn)	LOC126805632, ZBTB17 (D676N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482584	NM_003443.3(ZBTB17):c.2222C>T (p.Ala741Val)	LOC126805632, ZBTB17 (A678V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191921	NM_003443.3(ZBTB17):c.2210G>A (p.Arg737Gln)	LOC126805632, ZBTB17 (R655Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249984	NM_003443.3(ZBTB17):c.2135A>G (p.Asn712Ser)	LOC126805632, ZBTB17 (N630S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GPathogenic/Likely pathogenic
Select item 428923	NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)	SDHB (W218*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +4 more	GPathogenic
Select item 18454	NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	SDHB (V140F)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 2255874	NM_014870.4(ZBTB40):c.3116G>C (p.Arg1039Pro)	ZBTB40 (R1039P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192074	NM_014870.4(ZBTB40):c.3161C>T (p.Thr1054Ile)	ZBTB40 (T1054I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2839617	NM_000975.5(RPL11):c.311del (p.Asn104fs)	RPL11 (N103fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 2494421	NM_001389556.1(UBXN11):c.1492G>A (p.Gly498Ser)	UBXN11 (G378S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231266	NM_001389556.1(UBXN11):c.1477C>A (p.Pro493Thr)	UBXN11 (P493T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330738	NM_001389556.1(UBXN11):c.1415G>C (p.Arg472Pro)	UBXN11 (R439P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330739	NM_001389556.1(UBXN11):c.1409G>A (p.Arg470Gln)	UBXN11 (R437Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409597	NM_001389556.1(UBXN11):c.1358C>G (p.Thr453Arg)	UBXN11 (T333R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609620	NM_001389556.1(UBXN11):c.1294G>T (p.Val432Phe)	UBXN11 (V399F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 126311	NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser)	ARID1A (N1705S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3084090	NM_001364857.2(ADGRB2):c.2595C>G (p.Ile865Met)	ADGRB2 (I865M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270684	NM_001364857.2(ADGRB2):c.2553G>C (p.Gln851His)	ADGRB2 (Q851H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298594	NM_001364857.2(ADGRB2):c.2553G>T (p.Gln851His)	ADGRB2 (Q851H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984912	NM_014284.3(NCDN):c.1297G>C (p.Glu433Gln)	NCDN (E416Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 2296881	NM_001394062.1(MACF1):c.1607C>T (p.Ser536Phe)	MACF1 (S536F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260190	NM_001394062.1(MACF1):c.1637A>G (p.Glu546Gly)	MACF1 (E551G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 297257	NM_005857.4(ZMPSTE24):c.-46G>A	LOC129930253, ZMPSTE24	Single nucleotide variant	Mandibuloacral dysplasia +2 more	GUncertain significance
Select item 1361	NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	CLDN19 (G20D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1253	NM_022356.4(P3H1):c.1080+1G>T	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 8 +2 more	GPathogenic
Select item 3311544	NM_002840.5(PTPRF):c.2473A>G (p.Thr825Ala)	PTPRF (T816A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149357	NM_002840.5(PTPRF):c.2530A>G (p.Lys844Glu)	PTPRF (K844E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149358	NM_002840.5(PTPRF):c.2561G>A (p.Arg854Gln)	PTPRF (R845Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371712	NM_002840.5(PTPRF):c.2588C>T (p.Ala863Val)	PTPRF (A854V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149360	NM_002840.5(PTPRF):c.2596A>G (p.Asn866Asp)	PTPRF (N857D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311548	NM_002840.5(PTPRF):c.2621A>T (p.Asp874Val)	PTPRF (D865V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149361	NM_002840.5(PTPRF):c.2636T>C (p.Val879Ala)	PTPRF (V879A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359057	NM_002840.5(PTPRF):c.2641G>A (p.Gly881Ser)	PTPRF (G881S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273944	NM_002840.5(PTPRF):c.2652G>C (p.Lys884Asn)	PTPRF (K884N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308411	NM_002840.5(PTPRF):c.2672G>A (p.Arg891Gln)	PTPRF (R882Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149362	NM_002840.5(PTPRF):c.2689C>G (p.Arg897Gly)	PTPRF (R888G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347843	NM_002840.5(PTPRF):c.2867G>A (p.Arg956Gln)	PTPRF (R956Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149363	NM_002840.5(PTPRF):c.2953G>C (p.Asp985His)	PTPRF (D976H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379470	NM_002840.5(PTPRF):c.3026C>T (p.Pro1009Leu)	PTPRF (P1009L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 464672	NC_000001.11:g.(?_45329300)_(45330563_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 483921	NM_001048174.2(MUTYH):c.1501del (p.Leu501fs)	MUTYH (L386fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 5297	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH (E466* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of stomach +7 more	GPathogenic/Likely pathogenic
Select item 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 2701912	NM_181697.3(PRDX1):c.551del (p.Ile184fs)	MMACHC, PRDX1 (I184fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2408574	NM_004799.4(ZFYVE9):c.3710C>A (p.Ser1237Tyr)	ZFYVE9 (S1178Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340433	NM_004799.4(ZFYVE9):c.3801G>T (p.Gln1267His)	ZFYVE9 (Q1208H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409241	NM_004799.4(ZFYVE9):c.3823G>A (p.Val1275Ile)	ZFYVE9 (V1216I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206287	NM_001039464.4(MROH7):c.2782G>A (p.Asp928Asn)	MROH7, MROH7-TTC4 (D446N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3295944	NM_001039464.4(MROH7):c.2788G>T (p.Gly930Cys)	MROH7, MROH7-TTC4 (G930C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3295938	NM_001039464.4(MROH7):c.2788G>A (p.Gly930Ser)	MROH7, MROH7-TTC4 (G930S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2222826	NM_001039464.4(MROH7):c.2827C>T (p.Arg943Cys)	MROH7, MROH7-TTC4 (R943C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 201129	NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)	PCSK9 (R496W +6 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +7 more	GConflicting classifications of pathogenicity
Select item 225075	NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp)	JAK1, LOC126805749 (A634D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3118390	NM_002303.6(LEPR):c.2278C>G (p.Leu760Val)	LEPR (L760V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 98866	NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	RPE65 (R124*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 370802	NM_000016.6(ACADM):c.1A>G (p.Met1Val)	ACADM (M1V)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	Epileptic spasm +4 more	GPathogenic/Likely pathogenic
Select item 470680	NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs)	NEXN (Y640fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 625274	NM_000969.5(RPL5):c.-46C>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99274	NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)	ABCA4 (V1433I +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +9 more	GPathogenic/Likely pathogenic
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99310	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4 (I156V)	Single nucleotide variant (missense variant)	Abnormal retinal morphology +7 more	GConflicting classifications of pathogenicity
Select item 2331607	NM_001361041.2(FRRS1):c.1640A>G (p.Asp547Gly)	FRRS1 (D547G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977771	NM_194292.3(SASS6):c.127-13A>G	SASS6	Single nucleotide variant (intron variant)	Microcephaly 14, primary, autosomal recessive	GLikely pathogenic
Select item 1711192	NM_133496.5(SLC30A7):c.21dup (p.Asp8fs)	LOC129931031, SLC30A7 (D8fs)	Duplication (frameshift variant)	Decreased testicular size	GLikely pathogenic
Select item 73058	NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	NRAS (Q61K)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +3 more	GConflicting classifications of pathogenicity OOncogenic
Select item 2515366	NM_001007553.3(CSDE1):c.1705G>A (p.Gly569Ser)	CSDE1 (G569S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 383907	NM_025150.5(TARS2):c.-22G>A	TARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1444709	NM_019032.6(ADAMTSL4):c.2569G>A (p.Glu857Lys)	ADAMTSL4 (E857K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 292557	NM_019032.6(ADAMTSL4):c.2591G>A (p.Arg864Gln)	ADAMTSL4 (R864Q +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 2600704	NM_019032.6(ADAMTSL4):c.2608C>T (p.Leu870Phe)	ADAMTSL4 (L870F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539453	NM_019032.6(ADAMTSL4):c.2629G>C (p.Gly877Arg)	ADAMTSL4 (G838R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1447397	NM_019032.6(ADAMTSL4):c.2629G>A (p.Gly877Arg)	ADAMTSL4 (G877R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1365269	NM_019032.6(ADAMTSL4):c.2687G>A (p.Arg896Gln)	ADAMTSL4 (R919Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1408708	NM_019032.6(ADAMTSL4):c.2702G>A (p.Arg901His)	ADAMTSL4 (R862H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 39458	NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	ADAR (G1007R +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 60506	NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	RIT1 (A57G +2 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic
Select item 1350707	NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)	LMNA, LOC129931597 (A16D)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +12 more	GUncertain significance
Select item 66901	NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	LOC126805877, LMNA (R166P +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +4 more	GPathogenic/Likely pathogenic

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