ClinVar for MedGen (Select 266222) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017483	NM_005327.7(HADH):c.710-19G>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3015814	NM_005327.7(HADH):c.351G>A (p.Val117=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3014410	NM_005327.7(HADH):c.39C>T (p.Ser13=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3012788	NM_005327.7(HADH):c.498C>T (p.Phe166=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3012445	NM_005327.7(HADH):c.827-20C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3008943	NM_005327.7(HADH):c.249A>G (p.Ala83=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3007880	NM_005327.7(HADH):c.567C>T (p.Thr189=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3006363	NM_005327.7(HADH):c.327T>C (p.Val109=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3004690	NM_005327.7(HADH):c.921A>T (p.Gly307=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3002807	NM_005327.7(HADH):c.306C>G (p.Thr102=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2999976	NM_005327.7(HADH):c.774A>G (p.Pro258=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2997131	NM_005327.7(HADH):c.156A>G (p.Thr52=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2994373	NM_005327.7(HADH):c.262-5A>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2977206	NM_005327.7(HADH):c.162G>A (p.Val54=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2975726	NM_005327.7(HADH):c.261+10T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2964859	NM_005327.7(HADH):c.261+16C>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2960014	NM_005327.7(HADH):c.827-18C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2916167	NM_005327.7(HADH):c.312G>A (p.Thr104=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2915473	NM_005327.7(HADH):c.828G>A (p.Gly276=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2909979	NM_005327.7(HADH):c.262-8T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2908014	NM_005327.7(HADH):c.636+7G>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2904210	NM_005327.7(HADH):c.262-6C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2891714	NM_005327.7(HADH):c.132+19A>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2890622	NM_005327.7(HADH):c.261+18A>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2886955	NM_005327.7(HADH):c.419+14G>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2883026	NM_005327.7(HADH):c.600T>C (p.Phe200=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2882402	NM_005327.7(HADH):c.615A>G (p.Gly205=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2882063	NM_005327.7(HADH):c.525G>A (p.Val175=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2877074	NM_005327.7(HADH):c.826+13del	HADH	Deletion (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2875489	NM_005327.7(HADH):c.709+17G>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2874401	NM_005327.7(HADH):c.426A>G (p.Thr142=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2874131	NM_005327.7(HADH):c.261+2T>A	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 2869871	NM_005327.7(HADH):c.637-18T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2869097	NM_005327.7(HADH):c.637-7A>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2868716	NM_005327.7(HADH):c.93G>A (p.Thr31=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2866201	NM_005327.7(HADH):c.261+15T>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2862884	NM_005327.7(HADH):c.663C>T (p.Arg221=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2862079	NM_005327.7(HADH):c.48C>T (p.Ser16=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2853170	NM_005327.7(HADH):c.420-19C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2846842	NM_005327.7(HADH):c.381A>G (p.Lys127=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2844359	NM_005327.7(HADH):c.547-19C>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2841833	NM_005327.7(HADH):c.54C>A (p.Ala18=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2841632	NM_005327.7(HADH):c.710-14_710-11dup	HADH	Duplication (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2841592	NM_005327.7(HADH):c.489A>G (p.Gln163=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2841482	NM_005327.7(HADH):c.612A>G (p.Leu204=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2836479	NM_005327.7(HADH):c.64del (p.Ala22fs)	HADH (A22fs)	Deletion (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2836291	NM_005327.7(HADH):c.771C>T (p.Gly257=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2832318	NM_005327.7(HADH):c.909C>T (p.Gly303=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2828916	NM_005327.7(HADH):c.450C>T (p.Ser150=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2826330	NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)	HADH	Deletion (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2820792	NM_005327.7(HADH):c.420-10C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2809363	NM_005327.7(HADH):c.664_668del (p.Leu222fs)	HADH (L222fs +1 more)	Deletion (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2806151	NM_005327.7(HADH):c.546+13C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2805111	NM_005327.7(HADH):c.117C>G (p.Gly39=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2802479	NM_005327.7(HADH):c.873A>G (p.Pro291=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2799758	NM_005327.7(HADH):c.87C>T (p.His29=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2799307	NM_005327.7(HADH):c.180G>A (p.Glu60=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2797432	NM_005327.7(HADH):c.366G>A (p.Glu122=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2796951	NM_005327.7(HADH):c.493C>T (p.Arg165Ter)	HADH (R165* +1 more)	Single nucleotide variant (nonsense)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2794776	NM_005327.7(HADH):c.141A>G (p.Ala47=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2793908	NM_005327.7(HADH):c.261+8C>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2785744	NM_005327.7(HADH):c.765C>G (p.Pro255=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2781679	NM_005327.7(HADH):c.261+7T>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2780531	NM_005327.7(HADH):c.261+19T>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2778619	NM_005327.7(HADH):c.710-11T>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2777116	NM_005327.7(HADH):c.637-10C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2770114	NM_005327.7(HADH):c.419+18A>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2770111	NM_005327.7(HADH):c.419+16A>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2769989	NM_005327.7(HADH):c.126T>C (p.Ile42=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2768349	NM_005327.7(HADH):c.132+16T>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2767809	NM_005327.7(HADH):c.546+15G>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2767734	NM_005327.7(HADH):c.261+20G>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2764177	NM_005327.7(HADH):c.636+18T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2763835	NM_005327.7(HADH):c.315T>C (p.Asp105=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2761586	NM_005327.7(HADH):c.756C>G (p.Ala252=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2758232	NM_005327.7(HADH):c.304_307dup (p.Ser103fs)	HADH (S107fs +1 more)	Duplication (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2754624	NM_005327.7(HADH):c.636+16G>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2749753	NM_005327.7(HADH):c.261+16C>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2746550	NM_005327.7(HADH):c.897G>A (p.Glu299=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2740898	NM_005327.7(HADH):c.262-5A>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2740456	NM_005327.7(HADH):c.163T>C (p.Leu55=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2738964	NM_005327.7(HADH):c.50C>T (p.Thr17Ile)	HADH (T17I)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 2729418	NM_005327.7(HADH):c.419+19A>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2726575	NM_005327.7(HADH):c.516del (p.Phe172fs)	HADH (F176fs +1 more)	Deletion (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2723177	NM_005327.7(HADH):c.810G>A (p.Thr270=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2720534	NM_005327.7(HADH):c.756C>T (p.Ala252=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2719783	NM_005327.7(HADH):c.827-20C>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2719093	NM_005327.7(HADH):c.906C>T (p.Phe302=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2719092	NM_005327.7(HADH):c.120C>T (p.Ala40=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2718365	NM_005327.7(HADH):c.826+8T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2707419	NM_005327.7(HADH):c.636+2T>C	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 2706342	NM_005327.7(HADH):c.132+15C>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2705656	NM_005327.7(HADH):c.133-19T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2701547	NM_005327.7(HADH):c.123C>T (p.Gly41=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2700786	NM_005327.7(HADH):c.637-20T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2697873	NM_005327.7(HADH):c.133-20T>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2675961	NM_005327.7(HADH):c.419+1G>A	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2675960	NM_005327.7(HADH):c.709+2T>C	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 2675959	NM_005327.7(HADH):c.419+1G>C	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 2675958	NM_005327.7(HADH):c.130C>T (p.Gln44Ter)	HADH (Q44*)	Single nucleotide variant (nonsense)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic

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