"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ALDH7A1 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 +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 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
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 1519278	NM_001182.5(ALDH7A1):c.1564T>A (p.Cys522Ser)	ALDH7A1 (C458S +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 465325	NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe)	ALDH7A1 (S520F +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 2914968	NM_001182.5(ALDH7A1):c.1557G>A (p.Arg519=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 623338	NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)	ALDH7A1 (R519K +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GConflicting classifications of pathogenicity
Select item 2734771	NM_001182.5(ALDH7A1):c.1553G>C (p.Arg518Thr)	ALDH7A1 (R490T +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GPathogenic/Likely pathogenic
Select item 2166653	NM_001182.5(ALDH7A1):c.1553G>A (p.Arg518Lys)	ALDH7A1 (R490K +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 420896	NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile)	ALDH7A1 (M517I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1400683	NM_001182.5(ALDH7A1):c.1549A>T (p.Met517Leu)	ALDH7A1 (M517L +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 936727	NM_001182.5(ALDH7A1):c.1549A>G (p.Met517Val)	ALDH7A1 (M453V +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 2910275	NM_001182.5(ALDH7A1):c.1548C>T (p.Tyr516=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 647989	NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)	ALDH7A1 (Y452C +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2701142	NM_001182.5(ALDH7A1):c.1536C>A (p.Ala512=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 905671	NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GConflicting classifications of pathogenicity
Select item 842672	NM_001182.5(ALDH7A1):c.1532A>G (p.Asp511Gly)	ALDH7A1 (D447G +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 2734772	NM_001182.5(ALDH7A1):c.1531G>A (p.Asp511Asn)	ALDH7A1 (D483N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2693514	NM_001182.5(ALDH7A1):c.1530T>C (p.Ser510=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2782587	NM_001182.5(ALDH7A1):c.1527C>G (p.Gly509=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2112210	NM_001182.5(ALDH7A1):c.1524dup (p.Gly509fs)	ALDH7A1 (G481fs +2 more)	Duplication (frameshift variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 465323	NM_001182.5(ALDH7A1):c.1520A>C (p.Glu507Ala)	ALDH7A1 (E507A +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1373512	NM_001182.5(ALDH7A1):c.1519G>C (p.Glu507Gln)	ALDH7A1 (E479Q +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1936969	NM_001182.5(ALDH7A1):c.1518G>A (p.Arg506=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1483613	NM_001182.5(ALDH7A1):c.1517G>A (p.Arg506Lys)	ALDH7A1 (R442K +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1475079	NM_001182.5(ALDH7A1):c.1515C>T (p.Gly505=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
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 1774250	NM_001182.5(ALDH7A1):c.1512T>C (p.Gly504=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1011569	NM_001182.5(ALDH7A1):c.1510G>C (p.Gly504Arg)	ALDH7A1 (G440R +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 2000238	NM_001182.5(ALDH7A1):c.1509T>C (p.Gly503=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 975485	NM_001182.5(ALDH7A1):c.1507G>A (p.Gly503Ser)	ALDH7A1 (G439S +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1149093	NM_001182.5(ALDH7A1):c.1506T>C (p.Thr502=)	ALDH7A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 204860	NM_001182.4(ALDH7A1):c.1493_1495delGAG	ALDH7A1	Microsatellite	not provided +2 more	GUncertain significance
Select item 1532521	NM_001182.5(ALDH7A1):c.1491A>G (p.Gly497=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2058219	NM_001182.5(ALDH7A1):c.1490-1G>A	ALDH7A1	Single nucleotide variant (splice acceptor variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 2749708	NM_001182.5(ALDH7A1):c.1490-4C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 3018403	NM_001182.5(ALDH7A1):c.1490-6C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 385551	NM_001182.5(ALDH7A1):c.1490-7T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 2419943	NM_001182.5(ALDH7A1):c.1490-15T>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1350053	NM_001182.5(ALDH7A1):c.1490-15T>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2865187	NM_001182.5(ALDH7A1):c.1490-19T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1966706	NM_001182.5(ALDH7A1):c.1490-20A>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2116158	NM_001182.5(ALDH7A1):c.1489+15A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2758121	NM_001182.5(ALDH7A1):c.1489+12A>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1617471	NM_001182.5(ALDH7A1):c.1489+10G>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2710814	NM_001182.5(ALDH7A1):c.1489+7A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 956661	NM_001182.5(ALDH7A1):c.1489+6T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 280045	NM_001182.5(ALDH7A1):c.1489+5G>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +3 more	GPathogenic/Likely pathogenic
Select item 210116	NM_001182.5(ALDH7A1):c.1489+4C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1328029	NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr)	ALDH7A1 (A431T +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2695147	NM_001182.5(ALDH7A1):c.1481G>C (p.Gly494Ala)	ALDH7A1 (G494A +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 204851	NM_001182.5(ALDH7A1):c.1481G>T (p.Gly494Val)	ALDH7A1 (G494V +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 1500118	NM_001182.5(ALDH7A1):c.1480G>A (p.Gly494Ser)	ALDH7A1 (G466S +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1456756	NM_001182.5(ALDH7A1):c.1477G>T (p.Gly493Ter)	ALDH7A1 (G429* +2 more)	Single nucleotide variant (nonsense)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 1523266	NM_001182.5(ALDH7A1):c.1474A>G (p.Ile492Val)	ALDH7A1 (I492V +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1366445	NM_001182.5(ALDH7A1):c.1472A>T (p.Glu491Val)	ALDH7A1 (E491V +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	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 953400	NM_001182.5(ALDH7A1):c.1466G>A (p.Gly489Glu)	ALDH7A1 (G461E +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 3023586	NM_001182.5(ALDH7A1):c.1464T>C (p.Ser488=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2050416	NM_001182.5(ALDH7A1):c.1461A>C (p.Thr487=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 696430	NM_001182.5(ALDH7A1):c.1461A>G (p.Thr487=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2710312	NM_001182.5(ALDH7A1):c.1452C>T (p.Asn484=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 580444	NM_001182.5(ALDH7A1):c.1451A>G (p.Asn484Ser)	ALDH7A1 (N484S +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 2154478	NM_001182.5(ALDH7A1):c.1447G>A (p.Val483Ile)	ALDH7A1 (V483I +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1159713	NM_001182.5(ALDH7A1):c.1443A>G (p.Val481=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1379816	NM_001182.5(ALDH7A1):c.1442T>C (p.Val481Ala)	ALDH7A1 (V453A +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 350582	NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)	ALDH7A1 (I480T +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 2829233	NM_001182.5(ALDH7A1):c.1437C>T (p.Gly479=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2019345	NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser)	ALDH7A1 (G415S +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 2136321	NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)	ALDH7A1 (C478S +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 1384110	NM_001182.5(ALDH7A1):c.1429G>C (p.Asp477His)	ALDH7A1 (D413H +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 2960737	NM_001182.5(ALDH7A1):c.1428A>G (p.Ser476=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1365669	NM_001182.5(ALDH7A1):c.1417C>A (p.Pro473Thr)	ALDH7A1 (P473T +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 1611087	NM_001182.5(ALDH7A1):c.1416-5C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
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 1610340	NM_001182.5(ALDH7A1):c.1416-12C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2787553	NM_001182.5(ALDH7A1):c.1416-13C>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2962422	NM_001182.5(ALDH7A1):c.1416-14C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1596295	NM_001182.5(ALDH7A1):c.1416-16C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2730015	NM_001182.5(ALDH7A1):c.1416-19T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2076164	NM_001182.5(ALDH7A1):c.1416-20A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 3013442	NM_001182.5(ALDH7A1):c.1415+19del	ALDH7A1	Deletion (intron variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 2852455	NM_001182.5(ALDH7A1):c.1415+15A>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 905673	NM_001182.5(ALDH7A1):c.1415+15A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GConflicting classifications of pathogenicity

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