1,11-Hexadecadien-3-one - ClinVar - NCBI

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The following term was not found in ClinVar: Hexadecadien.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 667960	NM_198576.3(AGRN):c.-340T>C	AGRN, LOC129929075	Single nucleotide variant	not provided	GBenign
Select item 581563	NM_198576.4(AGRN):c.183G>C (p.Gln61His)	AGRN (Q61H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263161	NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)	AGRN (P465L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 392687	NM_198576.4(AGRN):c.4131C>T (p.Phe1377=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 263194	NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 263157	NM_198576.4(AGRN):c.*19C>T	AGRN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 193478	NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)	B3GALT6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 281204	NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp)	B3GALT6 (E174D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 60485	NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)	B3GALT6 (R232C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 1699271	NM_001330311.2(DVL1):c.499C>T (p.Arg167Ter)	DVL1 (R167*)	Single nucleotide variant (nonsense)	Autosomal dominant Robinow syndrome 2	GUncertain significance
Select item 3065995	NM_022834.5(VWA1):c.462del (p.Met155fs)	VWA1 (M155fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GPathogenic
Select item 1213715	NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del	ATAD3A, ATAD3B +4 more	Deletion	Harel-Yoon syndrome	GLikely pathogenic
Select item 3339389	NM_031921.6(ATAD3B):c.907-2A>G	ATAD3B	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 1298337	NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly)	ATAD3A (R257G +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GUncertain significance
Select item 1328144	NM_001170535.3(ATAD3A):c.1076C>T (p.Thr359Met)	ATAD3A (T280M +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GUncertain significance
Select item 1679823	NM_001170535.3(ATAD3A):c.1583G>A (p.Arg528Gln)	ATAD3A (R449Q +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 161195	NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met)	TMEM240 (T80M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 372833	NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)	TMEM240 (G66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral palsy +7 more	GPathogenic/Likely pathogenic
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 224713	NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)	GNB1 (G77S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1699320	NM_002074.5(GNB1):c.228T>A (p.Asp76Glu)	GNB1 (D76E)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1805950	NM_000815.5(GABRD):c.286C>T (p.Arg96Trp)	GABRD (R96W)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 16213	NM_000815.5(GABRD):c.659G>A (p.Arg220His)	GABRD (R220H)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GBenign/Likely benign
Select item 1805963	NM_000815.5(GABRD):c.778C>G (p.Leu260Val)	GABRD (L260V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GPathogenic
Select item 37259	NM_003036.4(SKI):c.94C>G (p.Leu32Val)	SKI (L32V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	GPathogenic
Select item 139112	NM_003036.4(SKI):c.99C>G (p.Gly33=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 37262	NM_003036.4(SKI):c.100G>T (p.Gly34Cys)	SKI (G34C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 139113	NM_003036.4(SKI):c.185C>G (p.Ala62Gly)	SKI (A62G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 193249	NM_003036.4(SKI):c.216C>T (p.Pro72=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 213683	NM_003036.4(SKI):c.417C>T (p.Ile139=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 139111	NM_003036.4(SKI):c.456C>T (p.Arg152=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 213684	NM_003036.4(SKI):c.539C>T (p.Thr180Met)	SKI (T180M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 193248	NM_003036.4(SKI):c.798C>T (p.Ala266=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 289941	NM_003036.4(SKI):c.970-7A>G	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1035726	NM_003036.4(SKI):c.985C>T (p.Pro329Ser)	SKI (P329S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1699134	NM_003036.4(SKI):c.1026del (p.Gln342fs)	SKI (Q342fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 213666	NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)	SKI (A345T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 258899	NM_003036.4(SKI):c.1211+17C>T	SKI	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 213671	NM_003036.4(SKI):c.1212-8C>T	SKI	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139114	NM_003036.4(SKI):c.1311C>T (p.Ala437=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 139115	NM_003036.4(SKI):c.1446G>A (p.Ala482=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 213674	NM_003036.4(SKI):c.1527C>T (p.Ser509=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 213677	NM_003036.4(SKI):c.1593T>C (p.Pro531=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 139116	NM_003036.4(SKI):c.1834C>T (p.Leu612=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 139117	NM_003036.4(SKI):c.1974C>T (p.Arg658=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 162432	NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)	PEX10 (L297P +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 296273	NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	PEX10 (L272fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +4 more	GPathogenic
Select item 162435	NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)	PEX10 (R264* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic
Select item 1804978	NM_002617.4(PEX10):c.637dup (p.Ala213fs)	PEX10 (A213fs +4 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B	GPathogenic
Select item 6770	NM_002617.4(PEX10):c.600+1G>A	PEX10	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 162434	NM_002617.4(PEX10):c.2T>C (p.Met1Thr)	PEX10 (M1T)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic
Select item 671193	NM_022114.3(PRDM16):c.-412G>A	LOC124903827, PRDM16	Single nucleotide variant	not provided	GBenign
Select item 227038	NM_022114.4(PRDM16):c.38-15C>T	PRDM16	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 229168	NM_022114.4(PRDM16):c.38-14G>A	PRDM16	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 510574	NM_022114.4(PRDM16):c.171C>T (p.Ser57=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 227864	NM_022114.4(PRDM16):c.201G>A (p.Pro67=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 227039	NM_022114.4(PRDM16):c.387+6C>T	PRDM16	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 227041	NM_022114.4(PRDM16):c.444C>T (p.Ser148=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 227042	NM_022114.4(PRDM16):c.627C>T (p.His209=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 226442	NM_022114.4(PRDM16):c.666C>T (p.Pro222=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 227043	NM_022114.4(PRDM16):c.783C>T (p.Tyr261=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 221025	NM_022114.4(PRDM16):c.1071C>T (p.Arg357=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 227022	NM_022114.4(PRDM16):c.1113C>T (p.Cys371=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 474402	NM_022114.4(PRDM16):c.1188T>C (p.Cys396=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 227023	NM_022114.4(PRDM16):c.1212G>A (p.Thr404=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 227025	NM_022114.4(PRDM16):c.1518G>A (p.Thr506=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 860188	NM_022114.4(PRDM16):c.1573C>T (p.Arg525Trp)	PRDM16 (R525W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227026	NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro)	PRDM16 (S533P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 474412	NM_022114.4(PRDM16):c.1745G>A (p.Arg582His)	PRDM16 (R582H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 227027	NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)	PRDM16 (P633L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 229160	NM_022114.4(PRDM16):c.2060G>C (p.Gly687Ala)	PRDM16 (G687A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227028	NM_022114.4(PRDM16):c.2091A>T (p.Ala697=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 227865	NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)	PRDM16 (R823P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 227029	NM_022114.4(PRDM16):c.2502C>T (p.Gly834=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 227031	NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 373755	NM_022114.4(PRDM16):c.2780A>C (p.His927Pro)	PRDM16 (H927P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 227032	NM_022114.4(PRDM16):c.2793C>T (p.Asn931=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 504757	NM_022114.4(PRDM16):c.3109+9C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 227033	NM_022114.4(PRDM16):c.3109+10G>A	PRDM16	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 227868	NM_022114.4(PRDM16):c.3109+12G>C	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 227869	NM_022114.4(PRDM16):c.3110-4G>A	PRDM16	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 227034	NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe)	PRDM16 (L1044F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1805269	NM_022114.4(PRDM16):c.3271C>T (p.Arg1091Ter)	PRDM16 (R1091*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 8	GLikely pathogenic
Select item 227035	NM_022114.4(PRDM16):c.3284+15G>T	PRDM16	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 413868	NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup)	PRDM16	Microsatellite (inframe_insertion)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 227036	NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 389898	NM_022114.4(PRDM16):c.*2G>A	PRDM16	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1195724	NM_022114.4(PRDM16):c.*15G>A	PRDM16	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1301277	NM_014704.4(CEP104):c.2621G>A (p.Arg874His)	CEP104 (R874H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1343654	NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)	CEP104 (T351fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal recessive 77 +1 more	GPathogenic/Likely pathogenic
Select item 190975	NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)	NPHP4 (R1359W +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 499260	NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)	NPHP4 (P1328L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3000453	NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)	NPHP4 (L1271P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GLikely pathogenic
Select item 1056125	NM_015102.5(NPHP4):c.3706G>A (p.Val1236Met)	NPHP4 (V1236M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 499341	NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys)	NPHP4 (R1135C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 501425	NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)	NPHP4 (T1122P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 592639	NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His)	NPHP4 (R1044H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 1368504	NM_015102.5(NPHP4):c.2893G>A (p.Glu965Lys)	NPHP4 (E965K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 297805	NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu)	NPHP4 (P844L +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +5 more	GUncertain significance

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