ClinVar for MedGen (Select 355966) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023181	NM_014297.5(ETHE1):c.120G>A (p.Leu40=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 3020951	NM_014297.5(ETHE1):c.15A>G (p.Val5=)	ETHE1, LOC130064595	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 3019682	NM_014297.5(ETHE1):c.78G>A (p.Arg26=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 3018667	NM_014297.5(ETHE1):c.595+14G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 3013236	NM_014297.5(ETHE1):c.595+18G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 3011113	NM_014297.5(ETHE1):c.387C>T (p.Thr129=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 3008484	NM_014297.5(ETHE1):c.30G>A (p.Arg10=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 3007624	NM_014297.5(ETHE1):c.82-20C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 3006780	NM_014297.5(ETHE1):c.219C>G (p.Leu73=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 3000203	NM_014297.5(ETHE1):c.712+17C>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2999364	NM_014297.5(ETHE1):c.375+20C>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2994920	NM_014297.5(ETHE1):c.195C>A (p.Ile65=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2990792	NM_014297.5(ETHE1):c.376-10C>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2982534	NM_014297.5(ETHE1):c.376-11del	ETHE1	Deletion (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2980664	NM_014297.5(ETHE1):c.82-13C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2971554	NM_014297.5(ETHE1):c.396_397insAC (p.Pro133fs)	ETHE1 (P133fs +3 more)	Insertion (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic
Select item 2959828	NM_014297.5(ETHE1):c.375+10G>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2958687	NM_014297.5(ETHE1):c.82-19del	ETHE1	Deletion (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2920323	NM_014297.5(ETHE1):c.552A>G (p.Thr184=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2919041	NM_014297.5(ETHE1):c.227-13C>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2914292	NM_014297.5(ETHE1):c.207_208delinsAT (p.Gly69_Leu70=)	ETHE1	Indel (synonymous variant +2 more)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2904940	NM_014297.5(ETHE1):c.596-4C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2901758	NM_014297.5(ETHE1):c.505+18C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2891130	NM_014297.5(ETHE1):c.596-18C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2887689	NM_014297.5(ETHE1):c.227-2A>G	ETHE1	Single nucleotide variant (splice acceptor variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2886462	NM_014297.5(ETHE1):c.227-18C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2884877	NM_014297.5(ETHE1):c.713-8C>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2884239	NM_014297.5(ETHE1):c.82-16G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2882655	NM_014297.5(ETHE1):c.82-12C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2879177	NM_014297.5(ETHE1):c.82-9C>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2877042	NM_014297.5(ETHE1):c.595+1_595+9dup	ETHE1	Duplication (splice donor variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2874724	NM_014297.5(ETHE1):c.81+16C>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2869801	NM_014297.5(ETHE1):c.596-17C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2866905	NM_014297.5(ETHE1):c.63C>T (p.Ala21=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2864753	NM_014297.5(ETHE1):c.706C>T (p.Gln236Ter)	ETHE1 (Q138* +3 more)	Single nucleotide variant (nonsense)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2863993	NM_014297.5(ETHE1):c.375+12G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2863990	NM_014297.5(ETHE1):c.36G>A (p.Gln12=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2858754	NM_014297.5(ETHE1):c.375+9G>C	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2858077	NM_014297.5(ETHE1):c.252_253dup (p.Ile85fs)	ETHE1 (I85fs)	Microsatellite (frameshift variant +1 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 2845670	NM_014297.5(ETHE1):c.595+15G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2843998	NM_014297.5(ETHE1):c.61del (p.Ala21fs)	ETHE1 (A21fs)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 2843565	NM_014297.5(ETHE1):c.505+7A>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2842931	NM_014297.5(ETHE1):c.82-15G>C	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2838655	NM_014297.5(ETHE1):c.712+13G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2836805	NM_014297.5(ETHE1):c.135C>T (p.Ser45=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2836024	NM_014297.5(ETHE1):c.241del (p.His81fs)	ETHE1 (H81fs)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 2833401	NM_014297.5(ETHE1):c.1A>C (p.Met1Leu)	ETHE1, LOC130064595 (M1L)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 2832046	NM_014297.5(ETHE1):c.246G>C (p.Ala82=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2827738	NM_014297.5(ETHE1):c.609C>T (p.Ser203=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2827547	NM_014297.5(ETHE1):c.216G>A (p.Leu72=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2825274	NM_014297.5(ETHE1):c.505+20A>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2824481	NM_014297.5(ETHE1):c.522G>A (p.Leu174=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2817920	NM_014297.5(ETHE1):c.306C>A (p.Ile102=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2807384	NM_014297.5(ETHE1):c.375+13_375+16dup	ETHE1	Duplication (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2805201	NM_014297.5(ETHE1):c.351A>G (p.Gly117=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2802892	NM_014297.5(ETHE1):c.129_132del (p.Arg43fs)	ETHE1 (R43fs)	Microsatellite (frameshift variant +2 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 2801389	NM_014297.5(ETHE1):c.712+15A>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2789133	NM_014297.5(ETHE1):c.376-13C>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2778600	NM_014297.5(ETHE1):c.596-13C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2758319	NM_014297.5(ETHE1):c.399T>G (p.Pro133=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2757690	NM_014297.5(ETHE1):c.630T>G (p.Thr210=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2756882	NM_014297.5(ETHE1):c.644T>G (p.Leu215Arg)	ETHE1 (L117R +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2755780	NM_014297.5(ETHE1):c.756C>T (p.Pro252=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2753955	NM_014297.5(ETHE1):c.639T>C (p.Pro213=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2749492	NM_014297.5(ETHE1):c.418_419del (p.Val140fs)	ETHE1 (V129fs +3 more)	Microsatellite (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic
Select item 2746753	NM_014297.5(ETHE1):c.81+10G>C	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2746086	NM_014297.5(ETHE1):c.506-8T>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2735099	NM_014297.5(ETHE1):c.459A>G (p.Gly153=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2734186	NM_014297.5(ETHE1):c.19_20dup (p.Val8fs)	ETHE1 (V8fs)	Duplication (frameshift variant +1 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 2728683	NM_014297.5(ETHE1):c.570G>A (p.Leu190=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2726022	NM_014297.5(ETHE1):c.153C>A (p.Ile51=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2711088	NM_014297.5(ETHE1):c.463dup (p.Ala155fs)	ETHE1 (A57fs +3 more)	Duplication (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic
Select item 2710594	NM_014297.5(ETHE1):c.401_402del (p.Gly134fs)	ETHE1 (G11fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic
Select item 2708350	NM_014297.5(ETHE1):c.72C>T (p.Leu24=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2707281	NM_014297.5(ETHE1):c.165G>C (p.Leu55=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2702233	NM_014297.5(ETHE1):c.171A>T (p.Thr57=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2698651	NM_014297.5(ETHE1):c.402C>G (p.Gly134=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2698091	NM_014297.5(ETHE1):c.459A>C (p.Gly153=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2697914	NM_014297.5(ETHE1):c.226+12G>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2695146	NM_014297.5(ETHE1):c.82-2A>G	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2694422	NM_014297.5(ETHE1):c.226+8C>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2694403	NM_014297.5(ETHE1):c.226+10G>C	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2693920	NM_014297.5(ETHE1):c.618G>A (p.Glu206=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2675150	NM_014297.5(ETHE1):c.375+1G>T	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675149	NM_014297.5(ETHE1):c.312_319del (p.Leu105fs)	ETHE1 (L105fs +1 more)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675148	NM_014297.5(ETHE1):c.82-96_119del	ETHE1	Deletion (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675147	NM_014297.5(ETHE1):c.542dup (p.Ile182fs)	ETHE1 (I171fs +3 more)	Duplication (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675146	NM_014297.5(ETHE1):c.586G>C (p.Asp196His)	ETHE1 (D185H +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675145	NM_014297.5(ETHE1):c.388del (p.Arg130fs)	ETHE1 (R119fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic
Select item 2675144	NM_014297.5(ETHE1):c.376-2A>G	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675143	NM_014297.5(ETHE1):c.48_49dup (p.Gly17fs)	ETHE1 (G17fs)	Microsatellite (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675142	NM_014297.5(ETHE1):c.703C>T (p.Gln235Ter)	ETHE1 (Q112* +3 more)	Single nucleotide variant (nonsense)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675141	NM_014297.5(ETHE1):c.68del (p.Ile23fs)	ETHE1 (I23fs)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675140	NM_014297.5(ETHE1):c.227-1G>T	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2671797	NM_014297.5(ETHE1):c.461A>T (p.Asp154Val)	ETHE1 (D143V +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2585596	NM_014297.5(ETHE1):c.461del (p.Asp154fs)	ETHE1 (D31fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2444161	NM_014297.5(ETHE1):c.530C>T (p.Ser177Leu)	ETHE1 (S166L +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2440114	NM_014297.5(ETHE1):c.227-2A>C	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	ZNF229, ZNF230 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 2420152	NM_014297.5(ETHE1):c.81+1G>T	ETHE1	Single nucleotide variant (splice donor variant)	Ethylmalonic encephalopathy	GLikely pathogenic

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