"Ambry Genetics"[submitter] AND "ALDH7A1"[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases +3 more	GBenign/Likely benign
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 1774250	NM_001182.5(ALDH7A1):c.1512T>C (p.Gly504=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 204860	NM_001182.4(ALDH7A1):c.1493_1495delGAG	ALDH7A1	Microsatellite	Inborn genetic diseases +2 more	GUncertain significance
Select item 280045	NM_001182.5(ALDH7A1):c.1489+5G>A	ALDH7A1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 696430	NM_001182.5(ALDH7A1):c.1461A>G (p.Thr487=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 265034	NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)	ALDH7A1 (R469H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1769826	NM_001182.5(ALDH7A1):c.1318-372_1318-161del	ALDH7A1	Deletion (intron variant)	Inborn genetic diseases	GBenign
Select item 128346	NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln)	ALDH7A1 (K439Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 377464	NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=)	ALDH7A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2228815	NM_001182.5(ALDH7A1):c.1297C>T (p.Leu433Phe)	ALDH7A1 (L405F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747420	NM_001182.5(ALDH7A1):c.1293G>A (p.Pro431=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 870697	NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu)	ALDH7A1 (P367L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 caused by ALDH7A1 mutant +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 837634	NM_001182.5(ALDH7A1):c.1244C>T (p.Thr415Ile)	ALDH7A1 (T351I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 429577	NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu)	ALDH7A1 (P411L +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 2490529	NM_001182.5(ALDH7A1):c.1190A>C (p.Tyr397Ser)	ALDH7A1 (Y369S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228337	NM_001182.5(ALDH7A1):c.1181C>T (p.Thr394Ile)	ALDH7A1 (T394I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 565889	NM_001182.5(ALDH7A1):c.1163C>G (p.Ala388Gly)	ALDH7A1 (A388G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 1021674	NM_001182.5(ALDH7A1):c.1138A>G (p.Met380Val)	ALDH7A1 (M352V +1 more)	Single nucleotide variant (missense variant +1 more)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 590185	NM_001182.5(ALDH7A1):c.1073G>T (p.Arg358Leu)	ALDH7A1 (R358L +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)	Inborn genetic diseases +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 specified +2 more	GConflicting classifications of pathogenicity
Select item 512385	NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 571248	NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser)	ALDH7A1 (T332S +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 388986	NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +3 more	GLikely benign
Select item 1767240	NM_001182.5(ALDH7A1):c.951A>G (p.Ser317=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 590098	NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs)	ALDH7A1 (S317fs +1 more)	Duplication (frameshift variant)	Pyridoxine-dependent epilepsy +2 more	GPathogenic
Select item 410541	NM_001182.5(ALDH7A1):c.914C>G (p.Ala305Gly)	ALDH7A1 (A305G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 848131	NM_001182.5(ALDH7A1):c.907A>G (p.Ile303Val)	ALDH7A1 (I303V +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +2 more	GUncertain significance
Select item 863009	NM_001182.5(ALDH7A1):c.871G>T (p.Gly291Trp)	ALDH7A1 (G263W +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 18002	NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 999799	NM_001182.5(ALDH7A1):c.826A>G (p.Thr276Ala)	ALDH7A1 (T248A +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 1762034	NM_001182.5(ALDH7A1):c.810G>A (p.Leu270=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 744428	NM_001182.5(ALDH7A1):c.807G>A (p.Leu269=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 863008	NM_001182.5(ALDH7A1):c.788A>G (p.Lys263Arg)	ALDH7A1 (K235R +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 655666	NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val)	ALDH7A1 (M261V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1440534	NM_001182.5(ALDH7A1):c.770T>C (p.Ile257Thr)	ALDH7A1 (I229T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2315852	NM_001182.5(ALDH7A1):c.743G>A (p.Cys248Tyr)	ALDH7A1 (C220Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758405	NM_001182.5(ALDH7A1):c.733G>A (p.Gly245Ser)	ALDH7A1 (G245S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589803	NM_001182.5(ALDH7A1):c.726G>A (p.Lys242=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 1757850	NM_001182.5(ALDH7A1):c.723C>T (p.Asn241=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 128349	NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 204833	NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)	ALDH7A1 (T222A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 588897	NM_001182.5(ALDH7A1):c.651-5T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 590103	NM_001182.5(ALDH7A1):c.623C>T (p.Ala208Val)	ALDH7A1 (A208V +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 136368	NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=)	ALDH7A1	Single nucleotide variant (synonymous variant)	ALDH7A1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 204830	NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile)	ALDH7A1 (V185I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 265032	NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)	ALDH7A1 (A177P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 589848	NM_001182.5(ALDH7A1):c.452T>C (p.Val151Ala)	ALDH7A1 (V151A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 640232	NM_001182.5(ALDH7A1):c.430G>A (p.Val144Met)	ALDH7A1 (V144M +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 589809	NM_001182.5(ALDH7A1):c.394-5T>C	ALDH7A1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 128348	NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)	ALDH7A1 (I125V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 204827	NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro)	ALDH7A1 (R122P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204863	NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)	ALDH7A1 (R122W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 655901	NM_001182.5(ALDH7A1):c.359C>A (p.Ala120Asp)	ALDH7A1 (A92D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 465329	NM_001182.5(ALDH7A1):c.359C>G (p.Ala120Gly)	ALDH7A1 (A120G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 410539	NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 17995	NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)	ALDH7A1 (R82* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +5 more	GPathogenic
Select item 204868	NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs)	ALDH7A1 (R96fs +1 more)	Insertion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 128347	NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 410540	NM_001182.5(ALDH7A1):c.247-1G>C	ALDH7A1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 136370	NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1789217	NM_001182.5(ALDH7A1):c.229A>G (p.Ile77Val)	ALDH7A1 (I49V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 204835	NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)	ALDH7A1 (T68N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 204834	NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met)	ALDH7A1 (T67M +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 465324	NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln)	ALDH7A1 (E52Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1635485	NM_001182.5(ALDH7A1):c.138G>A (p.Gly46=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 569552	NM_001182.5(ALDH7A1):c.119C>G (p.Ala40Gly)	ALDH7A1 (A40G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2268228	NM_001182.5(ALDH7A1):c.108G>C (p.Gln36His)	ALDH7A1 (Q36H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 410543	NM_001182.5(ALDH7A1):c.79G>C (p.Ala27Pro)	ALDH7A1 (A27P)	Single nucleotide variant (missense variant +1 more)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 2339022	NM_001182.5(ALDH7A1):c.74C>T (p.Pro25Leu)	ALDH7A1 (P25L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 204856	NM_001182.5(ALDH7A1):c.67A>G (p.Ser23Gly)	ALDH7A1 (S23G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 204855	NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe)	ALDH7A1 (S19F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 588446	NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs)	ALDH7A1 (L18fs)	Duplication (frameshift variant +1 more)	not specified +2 more	GUncertain significance
Select item 574950	NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs)	ALDH7A1 (S16fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 136379	NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	ALDH7A1-related condition +4 more	GBenign/Likely benign
Select item 372663	NM_001182.5(ALDH7A1):c.34del (p.Ala12fs)	ALDH7A1 (A12fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 204861	NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu)	ALDH7A1 (H11E)	Indel (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 204866	NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His)	ALDH7A1 (R3H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 204854	NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu)	ALDH7A1 (R3L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 350589	NM_001182.4(ALDH7A1):c.-80T>G	ALDH7A1	Single nucleotide variant	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

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Items: 86