ALDH7A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 350519	NM_001182.5(ALDH7A1):c.*3124A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 907001	NM_001182.5(ALDH7A1):c.*3081C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350520	NM_001182.5(ALDH7A1):c.*3022T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350522	NM_001182.5(ALDH7A1):c.2996_2997dup	ALDH7A1	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 350521	NM_001182.5(ALDH7A1):c.*2997dup	ALDH7A1	Duplication (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 907002	NM_001182.5(ALDH7A1):c.*2967T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 907003	NM_001182.5(ALDH7A1):c.*2914A>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350523	NM_001182.5(ALDH7A1):c.*2820dup	ALDH7A1	Duplication (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350524	NM_001182.5(ALDH7A1):c.*2818T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350525	NM_001182.5(ALDH7A1):c.*2781C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350526	NM_001182.5(ALDH7A1):c.*2700A>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 904746	NM_001182.5(ALDH7A1):c.*2603G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 350527	NM_001182.5(ALDH7A1):c.*2584C>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 904747	NM_001182.5(ALDH7A1):c.*2575T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350528	NM_001182.5(ALDH7A1):c.2568_2569dup	ALDH7A1	Duplication (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 904748	NM_001182.5(ALDH7A1):c.*2564G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350529	NM_001182.5(ALDH7A1):c.*2549G>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350530	NM_001182.5(ALDH7A1):c.*2512G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350531	NM_001182.5(ALDH7A1):c.*2499G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 905537	NM_001182.5(ALDH7A1):c.*2498C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 905538	NM_001182.5(ALDH7A1):c.*2494T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350532	NM_001182.5(ALDH7A1):c.*2492C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350533	NM_001182.5(ALDH7A1):c.*2464dup	ALDH7A1	Duplication (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350534	NM_001182.5(ALDH7A1):c.*2423C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350535	NM_001182.5(ALDH7A1):c.*2409A>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350536	NM_001182.5(ALDH7A1):c.*2387A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 905539	NM_001182.5(ALDH7A1):c.*2370A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350537	NM_001182.5(ALDH7A1):c.*2365C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350538	NM_001182.5(ALDH7A1):c.*2314T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350539	NM_001182.5(ALDH7A1):c.*2254T>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 906046	NM_001182.5(ALDH7A1):c.*2190T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350540	NM_001182.5(ALDH7A1):c.*2126G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 906047	NM_001182.5(ALDH7A1):c.*1844A>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350541	NM_001182.5(ALDH7A1):c.*1839G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350542	NM_001182.5(ALDH7A1):c.*1836C>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350543	NM_001182.5(ALDH7A1):c.*1804C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350545	NM_001182.5(ALDH7A1):c.1748_1749delinsAT	ALDH7A1	Indel (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350544	NM_001182.5(ALDH7A1):c.*1749G>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350546	NM_001182.5(ALDH7A1):c.*1748T>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350547	NM_001182.5(ALDH7A1):c.*1741T>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350548	NM_001182.5(ALDH7A1):c.*1730C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350549	NM_001182.5(ALDH7A1):c.*1702del	ALDH7A1	Deletion (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350550	NM_001182.5(ALDH7A1):c.*1693A>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350551	NM_001182.5(ALDH7A1):c.*1672A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350552	NM_001182.5(ALDH7A1):c.*1529A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350553	NM_001182.5(ALDH7A1):c.*1496T>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 903672	NM_001182.5(ALDH7A1):c.*1492G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350554	NM_001182.5(ALDH7A1):c.*1484T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 903673	NM_001182.5(ALDH7A1):c.*1475C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 903674	NM_001182.5(ALDH7A1):c.*1446G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350555	NM_001182.5(ALDH7A1):c.*1441C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 903675	NM_001182.5(ALDH7A1):c.*1416A>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350556	NM_001182.5(ALDH7A1):c.*1368A>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 903676	NM_001182.5(ALDH7A1):c.*1290C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 905601	NM_001182.5(ALDH7A1):c.*1288A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 905602	NM_001182.5(ALDH7A1):c.*1287G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 906112	NM_001182.5(ALDH7A1):c.*931A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350569	NM_001182.5(ALDH7A1):c.898_900del	ALDH7A1	Deletion (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350570	NM_001182.5(ALDH7A1):c.*818G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350571	NM_001182.5(ALDH7A1):c.*807C>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350572	NM_001182.5(ALDH7A1):c.*726C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350573	NM_001182.5(ALDH7A1):c.*717G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 907114	NM_001182.5(ALDH7A1):c.*704G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350574	NM_001182.5(ALDH7A1):c.*690T>C	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 350575	NM_001182.5(ALDH7A1):c.*641G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350577	NM_001182.5(ALDH7A1):c.*409del	ALDH7A1	Deletion (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350578	NM_001182.5(ALDH7A1):c.*404G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350579	NM_001182.5(ALDH7A1):c.*403C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 907115	NM_001182.5(ALDH7A1):c.*352G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 903756	NM_001182.5(ALDH7A1):c.*325A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 903757	NM_001182.5(ALDH7A1):c.*319T>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 903758	NM_001182.5(ALDH7A1):c.*156G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350580	NM_001182.5(ALDH7A1):c.*68A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy +2 more	GBenign
Select item 350581	NM_001182.5(ALDH7A1):c.*65G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 903759	NM_001182.5(ALDH7A1):c.*21C>T	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 204823	NM_001182.5(ALDH7A1):c.*5G>A	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 872351	NM_001182.5(ALDH7A1):c.1608C>G (p.Ile536Met)	ALDH7A1 (I508M +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 1334656	NM_001182.5(ALDH7A1):c.1600C>T (p.Gln534Ter)	ALDH7A1 (Q470* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 17999	NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)	ALDH7A1 (A469fs +2 more)	Deletion (frameshift variant)	Abnormality of the nervous system +2 more	GPathogenic/Likely pathogenic
Select item 1929376	NM_001182.5(ALDH7A1):c.1578_1582del (p.Tyr526_Lys528delinsTer)	ALDH7A1	Deletion (nonsense)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 935633	NM_001182.5(ALDH7A1):c.1579A>G (p.Ser527Gly)	ALDH7A1 (S463G +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 940705	NM_001182.5(ALDH7A1):c.1575C>G (p.Asn525Lys)	ALDH7A1 (N461K +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1810213	NM_001182.5(ALDH7A1):c.1574A>G (p.Asn525Ser)	ALDH7A1 (N461S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2145416	NM_001182.5(ALDH7A1):c.1570A>G (p.Ile524Val)	ALDH7A1 (I524V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 194825	NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)	ALDH7A1 (T523A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 374140	NM_001182.5(ALDH7A1):c.1566-1G>T	ALDH7A1	Single nucleotide variant (splice acceptor variant)	Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant +4 more	GPathogenic
Select item 905669	NM_001182.5(ALDH7A1):c.1566-4C>G	ALDH7A1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2187797	NM_001182.5(ALDH7A1):c.1566-8C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 794427	NM_001182.5(ALDH7A1):c.1566-14dup	ALDH7A1	Duplication (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1629328	NM_001182.5(ALDH7A1):c.1566-14T>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2900562	NM_001182.5(ALDH7A1):c.1566-20C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2752033	NM_001182.5(ALDH7A1):c.1566-20C>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 677644	NM_001182.5(ALDH7A1):c.1566-156del	ALDH7A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1199497	NM_001182.5(ALDH7A1):c.1566-228del	ALDH7A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1232379	NM_001182.5(ALDH7A1):c.1566-240C>A	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677428	NM_001182.5(ALDH7A1):c.1565+167del	ALDH7A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2026613	NM_001182.5(ALDH7A1):c.1565+18G>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 388673	NM_001182.5(ALDH7A1):c.1565+15T>C	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2859714	NM_001182.5(ALDH7A1):c.1565+12C>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2013632	NM_001182.5(ALDH7A1):c.1565+7A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign

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