ALDH7A1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1117

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 148931	GRCh38/hg38 5q23.2(chr5:125372857-126839014)x3	ALDH7A1, GRAMD2B +27 more	Copy number gain	See cases	GUncertain significance
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 1342147	NC_000005.10:g.126508361_126769360del	ALDH7A1, LMNB1 +9 more	Deletion	Adult-onset autosomal dominant demyelinating leukodystrophy	GPathogenic
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 350557	NM_001182.5(ALDH7A1):c.*1209G>A	ALDH7A1, LOC112997555	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 350558	NM_001182.5(ALDH7A1):c.*1176G>A	ALDH7A1, LOC112997555	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 905603	NM_001182.5(ALDH7A1):c.*1156C>A	ALDH7A1, LOC112997555	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350559	NM_001182.5(ALDH7A1):c.*1112T>G	ALDH7A1, LOC112997555	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350560	NM_001182.5(ALDH7A1):c.*1108G>A	ALDH7A1, LOC112997555	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 350561	NM_001182.5(ALDH7A1):c.*1059G>A	ALDH7A1, LOC112997555	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 906110	NM_001182.5(ALDH7A1):c.*1058C>T	ALDH7A1, LOC112997555	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 906111	NM_001182.5(ALDH7A1):c.*1053G>A	ALDH7A1, LOC112997555	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350562	NM_001182.5(ALDH7A1):c.*1004dup	ALDH7A1, LOC112997555	Duplication (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350563	NM_001182.5(ALDH7A1):c.1002_1003insA	ALDH7A1, LOC112997555	Insertion (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350564	NM_001182.5(ALDH7A1):c.*1002del	ALDH7A1, LOC112997555	Deletion (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350567	NM_001182.5(ALDH7A1):c.998_1000dup	LOC112997555, ALDH7A1	Duplication (3 prime UTR variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 350566	NM_001182.5(ALDH7A1):c.999_1000dup	ALDH7A1, LOC112997555	Duplication (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350565	NM_001182.5(ALDH7A1):c.*1000dup	ALDH7A1, LOC112997555	Duplication (3 prime UTR variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 350568	NM_001182.5(ALDH7A1):c.*980del	ALDH7A1, LOC112997555	Deletion (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 350576	NM_001182.5(ALDH7A1):c.*548C>T	ALDH7A1, LOC129994503	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy	GBenign
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

<< First< Prev

Page of 12