"GeneDx"[submitter] AND "ALDH7A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 350580	NM_001182.5(ALDH7A1):c.*68A>G	ALDH7A1	Single nucleotide variant (3 prime UTR variant)	Pyridoxine-dependent epilepsy +2 more	GBenign
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 194825	NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)	ALDH7A1 (T523A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 388673	NM_001182.5(ALDH7A1):c.1565+15T>C	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 419377	NM_001182.5(ALDH7A1):c.1565+1G>T	ALDH7A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 382292	NM_001182.5(ALDH7A1):c.1565G>C (p.Cys522Ser)	ALDH7A1 (C522S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 465325	NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe)	ALDH7A1 (S520F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 420896	NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile)	ALDH7A1 (M517I +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 204852	NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg)	ALDH7A1 (G505R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 204860	NM_001182.4(ALDH7A1):c.1493_1495delGAG	ALDH7A1	Microsatellite	Inborn genetic diseases +2 more	GUncertain significance
Select item 385551	NM_001182.5(ALDH7A1):c.1490-7T>C	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 673755	NM_001182.5(ALDH7A1):c.1490-47A>G	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677636	NM_001182.5(ALDH7A1):c.1490-243_1490-240del	ALDH7A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1250502	NM_001182.5(ALDH7A1):c.1490-267dup	ALDH7A1	Duplication (intron variant)	not provided	GBenign
Select item 1227231	NM_001182.5(ALDH7A1):c.1490-267_1490-266dup	ALDH7A1	Duplication (intron variant)	not provided	GBenign
Select item 1223124	NM_001182.5(ALDH7A1):c.1490-256_1490-255insTC	ALDH7A1	Insertion (intron variant)	not provided	GBenign
Select item 671074	NM_001182.5(ALDH7A1):c.1490-283C>T	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675889	NM_001182.5(ALDH7A1):c.1489+116del	ALDH7A1	Deletion (intron variant)	not provided	GLikely benign
Select item 280045	NM_001182.5(ALDH7A1):c.1489+5G>A	ALDH7A1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 2442601	NM_001182.5(ALDH7A1):c.1489+2T>C	ALDH7A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 204851	NM_001182.5(ALDH7A1):c.1481G>T (p.Gly494Val)	ALDH7A1 (G494V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 379577	NM_001182.5(ALDH7A1):c.1470T>C (p.Ala490=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 204859	NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs)	ALDH7A1 (A462fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 429572	NM_001182.5(ALDH7A1):c.1442T>A (p.Val481Glu)	ALDH7A1 (V481E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 204850	NM_001182.5(ALDH7A1):c.1441G>T (p.Val481Leu)	ALDH7A1 (V481L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507040	NM_001182.5(ALDH7A1):c.1416-11T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 670630	NM_001182.5(ALDH7A1):c.1415+85A>C	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1216366	NM_001182.5(ALDH7A1):c.1415+36C>G	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379813	NM_001182.5(ALDH7A1):c.1415+7C>T	ALDH7A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 816983	NM_001182.5(ALDH7A1):c.1410G>A (p.Trp470Ter)	ALDH7A1 (W406* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 265034	NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)	ALDH7A1 (R469H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 373649	NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr)	ALDH7A1 (I459T +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 204849	NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe)	ALDH7A1 (I459F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3338816	NM_001182.5(ALDH7A1):c.1358A>G (p.Gln453Arg)	ALDH7A1 (Q389R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 508077	NM_001182.5(ALDH7A1):c.1318-16A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 670821	NM_001182.5(ALDH7A1):c.1318-86G>A	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1209137	NM_001182.5(ALDH7A1):c.1318-166A>G	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671725	NM_001182.5(ALDH7A1):c.1318-261T>C	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181003	NM_001182.5(ALDH7A1):c.1317+217C>T	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188913	NM_001182.5(ALDH7A1):c.1317+28G>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +2 more	GBenign
Select item 379818	NM_001182.5(ALDH7A1):c.1317+20G>C	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 136377	NM_001182.5(ALDH7A1):c.1317+20G>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GBenign
Select item 509036	NM_001182.5(ALDH7A1):c.1317+19C>T	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 128346	NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln)	ALDH7A1 (K439Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 377464	NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +3 more	GBenign/Likely benign
Select item 863921	NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)	ALDH7A1 (Y370fs +2 more)	Deletion (frameshift variant)	Pyridoxine-dependent epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 451869	NM_001182.5(ALDH7A1):c.1301A>C (p.Tyr434Ser)	ALDH7A1 (Y434S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204848	NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys)	ALDH7A1 (Y434C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 136376	NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GBenign/Likely benign
Select item 204865	NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp)	ALDH7A1 (E427D +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 17994	NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	ALDH7A1 (E399Q +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +3 more	GPathogenic/Likely pathogenic
Select item 388119	NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala)	ALDH7A1 (T426A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1305098	NM_001182.5(ALDH7A1):c.1274A>C (p.His425Pro)	ALDH7A1 (H361P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204846	NM_001182.5(ALDH7A1):c.1267A>G (p.Ile423Val)	ALDH7A1 (I423V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136375	NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)	ALDH7A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204845	NM_001182.5(ALDH7A1):c.1262C>T (p.Ala421Val)	ALDH7A1 (A421V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128345	NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)	ALDH7A1 (T412A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 506580	NM_001182.5(ALDH7A1):c.1233G>A (p.Pro411=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 429577	NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu)	ALDH7A1 (P411L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204844	NM_001182.5(ALDH7A1):c.1225G>T (p.Val409Leu)	ALDH7A1 (V409L +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 18000	NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter)	ALDH7A1 (Y380* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 204843	NM_001182.5(ALDH7A1):c.1207G>A (p.Asp403Asn)	ALDH7A1 (D403N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515395	NM_001182.5(ALDH7A1):c.1201-5A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 238616	NM_001182.5(ALDH7A1):c.1201-8T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 670629	NM_001182.5(ALDH7A1):c.1201-27T>C	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 677972	NM_001182.5(ALDH7A1):c.1200+178T>G	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191028	NM_001182.5(ALDH7A1):c.1200+74G>C	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241978	NM_001182.5(ALDH7A1):c.1200+6G>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 595590	NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 391931	NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr)	ALDH7A1 (A384T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 388326	NM_001182.5(ALDH7A1):c.1126C>A (p.Gln376Lys)	ALDH7A1 (Q376K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 382907	NM_001182.5(ALDH7A1):c.1094-4C>T	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 384008	NM_001182.5(ALDH7A1):c.1094-14T>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 136374	NM_001182.5(ALDH7A1):c.1094-20C>G	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1182057	NM_001182.5(ALDH7A1):c.1094-183G>A	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679317	NM_001182.5(ALDH7A1):c.1094-184C>T	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214276	NM_001182.5(ALDH7A1):c.1094-215A>G	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677423	NM_001182.5(ALDH7A1):c.1094-224T>G	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667963	NM_001182.5(ALDH7A1):c.1094-280dup	ALDH7A1	Duplication (intron variant)	not provided	GBenign
Select item 1211210	NM_001182.5(ALDH7A1):c.1093+270G>A	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680036	NM_001182.5(ALDH7A1):c.1093+123G>A	ALDH7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675192	NM_001182.5(ALDH7A1):c.1093+107A>T	ALDH7A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 386187	NM_001182.5(ALDH7A1):c.1093C>T (p.Pro365Ser)	ALDH7A1 (P365S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 204842	NM_001182.5(ALDH7A1):c.1084C>T (p.Pro362Ser)	ALDH7A1 (P362S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1457545	NM_001182.5(ALDH7A1):c.1072C>T (p.Arg358Ter)	ALDH7A1 (R358* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 204822	NM_001182.5(ALDH7A1):c.1069A>G (p.Ile357Val)	ALDH7A1 (I357V +1 more)	Single nucleotide variant (intron variant +1 more)	not specified	GLikely benign
Select item 697062	NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 283788	NM_001182.5(ALDH7A1):c.1066C>G (p.Gln356Glu)	ALDH7A1 (Q356E +1 more)	Single nucleotide variant (missense variant +1 more)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 204841	NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr)	ALDH7A1 (R349T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 204821	NM_001182.5(ALDH7A1):c.1022G>A (p.Ser341Asn)	ALDH7A1 (S341N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 512385	NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy +3 more	GConflicting classifications of pathogenicity

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