ClinVar for MedGen (Select 340341) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068149	NM_001182.5(ALDH7A1):c.79G>A (p.Ala27Thr)	ALDH7A1 (A27T)	Single nucleotide variant (missense variant +1 more)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 3064857	NM_001182.5(ALDH7A1):c.877dup (p.Ser293fs)	ALDH7A1 (S265fs +1 more)	Duplication (frameshift variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 3064148	NM_001182.5(ALDH7A1):c.586T>A (p.Phe196Ile)	ALDH7A1 (F168I +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
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 3022765	NM_001182.5(ALDH7A1):c.518-17C>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 3021759	NM_001182.5(ALDH7A1):c.247-13dup	ALDH7A1	Duplication (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 3017148	NM_001182.5(ALDH7A1):c.651-12A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 3016711	NM_001182.5(ALDH7A1):c.313-10C>T	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 3006191	NM_001182.5(ALDH7A1):c.517+13A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 3004108	NM_001182.5(ALDH7A1):c.1392G>C (p.Leu464=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 3002521	NM_001182.5(ALDH7A1):c.1212C>T (p.Arg404=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 3001730	NM_001182.5(ALDH7A1):c.1368A>G (p.Ser456=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 3001651	NM_001182.5(ALDH7A1):c.296G>A (p.Trp99Ter)	ALDH7A1 (W71* +1 more)	Single nucleotide variant (nonsense)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2996567	NM_001182.5(ALDH7A1):c.909T>A (p.Ile303=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2994045	NM_001182.5(ALDH7A1):c.1278A>G (p.Thr426=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2991538	NM_001182.5(ALDH7A1):c.517+9T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2989340	NM_001182.5(ALDH7A1):c.518-19A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2982253	NM_001182.5(ALDH7A1):c.696-1G>T	ALDH7A1	Single nucleotide variant (splice acceptor variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2979647	NM_001182.5(ALDH7A1):c.1094-16C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2978529	NM_001182.5(ALDH7A1):c.696-4C>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2977229	NM_001182.5(ALDH7A1):c.442C>T (p.Gln148Ter)	ALDH7A1 (Q120* +1 more)	Single nucleotide variant (nonsense)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2976653	NM_001182.5(ALDH7A1):c.193-20C>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2975000	NM_001182.5(ALDH7A1):c.1201-11C>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2971461	NM_001182.5(ALDH7A1):c.1415+1G>T	ALDH7A1	Single nucleotide variant (splice donor variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2967979	NM_001182.5(ALDH7A1):c.207T>C (p.Tyr69=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2966564	NM_001182.5(ALDH7A1):c.396G>A (p.Val132=)	ALDH7A1	Single nucleotide variant (synonymous 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 2961387	NM_001182.5(ALDH7A1):c.695+12T>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2960869	NM_001182.5(ALDH7A1):c.621_624del (p.Ile207_Ala208insTer)	ALDH7A1	Deletion (frameshift variant)	Pyridoxine-dependent epilepsy	GPathogenic
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 2958078	NM_001182.5(ALDH7A1):c.117T>C (p.Tyr39=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2956945	NM_001182.5(ALDH7A1):c.1318-13TC[2]	ALDH7A1	Microsatellite (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2919015	NM_001182.5(ALDH7A1):c.987G>A (p.Arg329=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2918888	NM_001182.5(ALDH7A1):c.871+15T>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
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 2910817	NM_001182.5(ALDH7A1):c.329GAG[1] (p.Gly111del)	ALDH7A1 (G111del +1 more)	Microsatellite (inframe_deletion)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2910308	NM_001182.5(ALDH7A1):c.1344T>A (p.Asn448Lys)	ALDH7A1 (N448K +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GPathogenic
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 2910193	NM_001182.5(ALDH7A1):c.239T>G (p.Val80Gly)	ALDH7A1 (V52G +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2909834	NM_001182.5(ALDH7A1):c.1201-5A>C	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 2899486	NM_001182.5(ALDH7A1):c.112C>T (p.Gln38Ter)	ALDH7A1 (Q10* +1 more)	Single nucleotide variant (nonsense)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2897891	NM_001182.5(ALDH7A1):c.247-13A>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2897807	NM_001182.5(ALDH7A1):c.1094-20C>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2892886	NM_001182.5(ALDH7A1):c.1200+20C>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2889989	NM_001182.5(ALDH7A1):c.1263G>T (p.Ala421=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2888144	NM_001182.5(ALDH7A1):c.1201-12T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2887125	NM_001182.5(ALDH7A1):c.1094-18T>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2884390	NM_001182.5(ALDH7A1):c.651-6_651-4del	ALDH7A1	Microsatellite (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2884006	NM_001182.5(ALDH7A1):c.1192G>T (p.Gly398Trp)	ALDH7A1 (G398W +1 more)	Single nucleotide variant (missense variant +1 more)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2883094	NM_001182.5(ALDH7A1):c.81C>T (p.Ala27=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2880021	NM_001182.5(ALDH7A1):c.692C>G (p.Thr231Arg)	ALDH7A1 (T231R +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2878072	NM_001182.5(ALDH7A1):c.773+11A>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2871179	NM_001182.5(ALDH7A1):c.246+16_246+17insTGTT	ALDH7A1	Insertion (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2869134	NM_001182.5(ALDH7A1):c.246+7_246+8insGAGTGT	ALDH7A1	Microsatellite (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2866931	NM_001182.5(ALDH7A1):c.1092dup (p.Pro365_Asn366insTer)	ALDH7A1	Duplication (frameshift variant +1 more)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2865893	NM_001182.5(ALDH7A1):c.1272A>C (p.Ala424=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2865809	NM_001182.5(ALDH7A1):c.1094-13T>C	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 2864005	NM_001182.5(ALDH7A1):c.312+11C>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2862012	NM_001182.5(ALDH7A1):c.996T>C (p.Thr332=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	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 2858262	NM_001182.5(ALDH7A1):c.1318-18del	ALDH7A1	Deletion (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2857467	NM_001182.5(ALDH7A1):c.39_192+517del	ALDH7A1	Deletion (splice donor variant +1 more)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 2855057	NM_001182.5(ALDH7A1):c.393+16A>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2853276	NM_001182.5(ALDH7A1):c.517+16A>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2852455	NM_001182.5(ALDH7A1):c.1415+15A>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2852265	NM_001182.5(ALDH7A1):c.1200+1G>C	ALDH7A1	Single nucleotide variant (splice donor variant +1 more)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2851646	NM_001182.5(ALDH7A1):c.78C>A (p.Ala26=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2846073	NM_001182.5(ALDH7A1):c.891T>G (p.Leu297=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2845225	NM_001182.5(ALDH7A1):c.1152A>G (p.Ala384=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2842380	NM_001182.5(ALDH7A1):c.1093+2T>C	ALDH7A1	Single nucleotide variant (splice donor variant +1 more)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2841413	NM_001182.5(ALDH7A1):c.393+20T>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2841263	NM_001182.5(ALDH7A1):c.807G>C (p.Leu269=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2839380	NM_001182.5(ALDH7A1):c.382C>T (p.Leu128=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2837805	NM_001182.5(ALDH7A1):c.312+2T>G	ALDH7A1	Single nucleotide variant (splice donor variant)	Pyridoxine-dependent epilepsy	GPathogenic
Select item 2834390	NM_001182.5(ALDH7A1):c.810G>C (p.Leu270=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2834071	NM_001182.5(ALDH7A1):c.695+14G>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2832709	NM_001182.5(ALDH7A1):c.913+10C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2831866	NM_001182.5(ALDH7A1):c.21G>T (p.Ala7=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2831100	NM_001182.5(ALDH7A1):c.695+11G>A	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2830156	NM_001182.5(ALDH7A1):c.612C>T (p.Asn204=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2829650	NM_001182.5(ALDH7A1):c.36T>C (p.Ala12=)	ALDH7A1	Single nucleotide variant (5 prime UTR variant +1 more)	Pyridoxine-dependent epilepsy	GLikely benign
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 2827572	NM_001182.5(ALDH7A1):c.986G>C (p.Arg329Thr)	ALDH7A1 (R301T +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 2827551	NM_001182.5(ALDH7A1):c.872-18T>C	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2824236	NM_001182.5(ALDH7A1):c.24G>C (p.Leu8=)	ALDH7A1	Single nucleotide variant (5 prime UTR variant +1 more)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2823996	NM_001182.5(ALDH7A1):c.313-15G>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2822402	NM_001182.5(ALDH7A1):c.518-2A>G	ALDH7A1	Single nucleotide variant (splice acceptor variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 2821784	NM_001182.5(ALDH7A1):c.1009-7C>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2820990	NM_001182.5(ALDH7A1):c.276A>G (p.Val92=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2820324	NM_001182.5(ALDH7A1):c.138G>T (p.Gly46=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2820036	NM_001182.5(ALDH7A1):c.650+14A>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2818983	NM_001182.5(ALDH7A1):c.696-16G>T	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2816828	NM_001182.5(ALDH7A1):c.316C>A (p.Pro106Thr)	ALDH7A1 (P78T +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 2816232	NM_001182.5(ALDH7A1):c.22C>T (p.Leu8=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 2815712	NM_001182.5(ALDH7A1):c.1009-8del	ALDH7A1	Deletion (intron variant)	Pyridoxine-dependent epilepsy	GBenign
Select item 2813530	NM_001182.5(ALDH7A1):c.492T>C (p.Ile164=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy	GLikely benign

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