16-Hydroxyhexadec-9-enoic acid - ClinVar - NCBI

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The following terms were not found in ClinVar: Hydroxyhexadec, enoic.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227861	NM_022114.4(PRDM16):c.1578G>A (p.Pro526=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 499066	NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)	NPHP4 (P677S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 265453	NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)	NMNAT1 (W169*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9 +2 more	GPathogenic
Select item 376453	NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	MTOR (C1483Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +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 2282	NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	MFN2 (R468H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2280	NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	MFN2 (R707W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +8 more	GPathogenic/Likely pathogenic
Select item 430258	NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)	CTRC (G217S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 292914	NM_007272.3(CTRC):c.703G>A (p.Val235Ile)	CTRC (V235I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 280146	NM_004431.5(EPHA2):c.2826-9G>A	EPHA2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 1473177	NM_022089.4(ATP13A2):c.1750-3C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 2079252	NM_022089.4(ATP13A2):c.1749+15C>G	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 2134936	NM_022089.4(ATP13A2):c.1749+5G>C	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 293788	NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser)	ATP13A2 (G582S +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 546326	NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)	ATP13A2 (D571N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 772495	NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)	ATP13A2 (R558Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GConflicting classifications of pathogenicity
Select item 588607	NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val)	ATP13A2 (A556V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GUncertain significance
Select item 646609	NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His)	ATP13A2 (R540H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 578934	NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys)	ATP13A2 (R544C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2150973	NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)	ATP13A2 (G517S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 985083	NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met)	ATP13A2 (T510M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 12782	NM_003000.3(SDHB):c.716_719del (p.Ser239fs)	SDHB (S239fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 184933	NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)	SDHB (R230L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GPathogenic/Likely pathogenic
Select item 1755980	NM_003000.3(SDHB):c.688C>G (p.Arg230Gly)	SDHB (R230G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 185077	NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	SDHB (R230C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GPathogenic/Likely pathogenic
Select item 3316886	NM_003000.3(SDHB):c.650G>C (p.Arg217Pro)	SDHB (R199P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 183747	NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)	SDHB (W200C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GPathogenic/Likely pathogenic
Select item 845283	NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)	SDHB (P197S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 230070	NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)	SDHB (C196Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 428916	NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)	SDHB (G96D)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GPathogenic/Likely pathogenic
Select item 183793	NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	SDHB (R46Q)	Single nucleotide variant (missense variant)	Paragangliomas 4 +7 more	GPathogenic/Likely pathogenic
Select item 142763	NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	SDHB (R46*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +6 more	GPathogenic
Select item 12785	NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)	SDHB (R46G)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GPathogenic
Select item 13683	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL (A176T +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +5 more	GPathogenic/Likely pathogenic
Select item 13679	NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	ALPL (N417S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 992969	NM_000975.5(RPL11):c.465_466del (p.His155fs)	RPL11 (H154fs +1 more)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic/Likely pathogenic
Select item 449055	NM_016011.5(MECR):c.830+2dup	MECR	Duplication (non-coding transcript variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 6241	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)	KCNQ4 (G285S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 2585614	NM_006516.4(SLC2A1):c.1337T>A (p.Ile446Asn)	SLC2A1 (I446N)	Single nucleotide variant (missense variant)	Dystonia 9	GUncertain significance
Select item 95407	NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)	SLC2A1	Single nucleotide variant (synonymous variant)	Childhood onset GLUT1 deficiency syndrome 2 +8 more	GBenign
Select item 198842	NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	SLC2A1 (R333W)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome +8 more	GPathogenic/Likely pathogenic
Select item 16108	NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)	SLC2A1 (K256V)	Indel (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 14164	NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)	MPL (W515L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 1006340	NM_001365999.1(SZT2):c.2471+4T>C	SZT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 919530	NM_001048174.2(MUTYH):c.1537del (p.Ala513fs)	MUTYH (A398fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 5297	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH (E466* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial colorectal cancer +7 more	GPathogenic/Likely pathogenic
Select item 141282	NM_001048174.2(MUTYH):c.1103-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 406828	NM_001048174.2(MUTYH):c.656G>A (p.Arg219Gln)	MUTYH (R247Q +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +6 more	GPathogenic/Likely pathogenic
Select item 142271	NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)	MUTYH (T232A +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 187280	NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	MUTYH (R182C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 141830	NM_001048174.2(MUTYH):c.292C>T (p.Arg98Trp)	MUTYH (R126W +6 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
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 630143	NM_174936.4(PCSK9):c.341T>C (p.Val114Ala)	PCSK9 (V114A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 265933	NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	PCSK9 (R237W +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 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 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 229051	NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)	NEXN (R392* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 47899	NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)	NEXN (G650del +1 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1CC +5 more	GUncertain significance
Select item 326	NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	NEXN (Y652C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +5 more	GConflicting classifications of pathogenicity
Select item 99274	NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)	ABCA4 (V1433I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 99310	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4 (I156V)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1704214	NM_001368809.2(AMPD2):c.2158G>T (p.Glu720Ter)	AMPD2 (E656* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 63	GUncertain significance
Select item 39648	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS (G12D)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +6 more	GPathogenic/Likely pathogenic
Select item 30464	NM_005105.5(RBM8A):c.-21G>A	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome +2 more	GConflicting classifications of pathogenicity; other
Select item 373048	NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)	POGZ (M332fs +4 more)	Deletion (frameshift variant)	See cases +5 more	GPathogenic
Select item 4311	NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	GBA1, LOC106627981 (R535H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +9 more	GPathogenic/Likely pathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +14 more	GPathogenic; risk factor
Select item 4293	NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	GBA1, LOC106627981 (D448H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +9 more	GPathogenic/Likely pathogenic
Select item 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +12 more	GPathogenic/Likely pathogenic; risk factor
Select item 1513	NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	PKLR (R486W +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +3 more	GPathogenic/Likely pathogenic
Select item 2664592	NM_018489.3(ASH1L):c.7310C>T (p.Ala2437Val)	ASH1L (A2437V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 181522	NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	RIT1 (F82L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +7 more	GPathogenic/Likely pathogenic
Select item 14504	NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	LMNA, LOC126805877 (E161K +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +6 more	GPathogenic/Likely pathogenic
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
Select item 200964	NM_170707.4(LMNA):c.647G>A (p.Arg216His)	LMNA (R216H +2 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 48074	NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	LMNA (R225* +2 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A +5 more	GPathogenic
Select item 48075	NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)	LMNA (Q234* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 48093	NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	LMNA (E317K +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +7 more	GPathogenic/Likely pathogenic
Select item 36473	NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA (R335W +2 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +20 more	GPathogenic/Likely pathogenic
Select item 48031	NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	LMNA (R377C +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +7 more	GPathogenic/Likely pathogenic
Select item 66800	NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	LMNA (Q432* +2 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 36476	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA (R471H +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 200944	NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)	LMNA (W520* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 48043	NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +16 more	GConflicting classifications of pathogenicity
Select item 48045	NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)	LMNA (G523R +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 66851	NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)	LMNA (T528M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 66856	NM_170707.4(LMNA):c.1609-3C>G	LMNA	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1A +6 more	GPathogenic/Likely pathogenic
Select item 66860	NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	LMNA (R541H +2 more)	Single nucleotide variant (missense variant +1 more)	Hutchinson-Gilford syndrome +7 more	GPathogenic/Likely pathogenic
Select item 14517	NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	LMNA (S573L +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 14527	NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	LMNA (R644C +6 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +17 more	GConflicting classifications of pathogenicity
Select item 521285	NM_002529.4(NTRK1):c.2206-11G>A	NTRK1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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