ClinVar for MedGen (Select 65086) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3764706	NM_000016.6(ACADM):c.84_90del (p.Arg29fs)	ACADM (R29fs +1 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3731552	NM_000016.6(ACADM):c.1171A>G (p.Met391Val)	ACADM (M202V +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3729918	NM_000016.6(ACADM):c.432G>A (p.Lys144=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3729777	NM_000016.6(ACADM):c.484G>T (p.Glu162Ter)	ACADM (E126* +3 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3714070	NM_000016.6(ACADM):c.711A>G (p.Glu237=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3713351	NM_000016.6(ACADM):c.500C>T (p.Ser167Phe)	ACADM (S171F +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3712398	NM_000016.6(ACADM):c.178A>T (p.Ile60Phe)	ACADM (I24F +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3710635	NM_000016.6(ACADM):c.708+14T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3706569	NM_000016.6(ACADM):c.186A>G (p.Pro62=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3706271	NM_000016.6(ACADM):c.839C>T (p.Thr280Ile)	ACADM (T284I +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3704105	NM_000016.6(ACADM):c.849+18A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3700785	NM_000016.6(ACADM):c.599+17A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3695598	NM_000016.6(ACADM):c.109T>C (p.Phe37Leu)	ACADM (F37L +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3693774	NM_000016.6(ACADM):c.946-5T>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3693102	NM_000016.6(ACADM):c.582C>A (p.Asn194Lys)	ACADM (N5K +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3689572	NM_000016.6(ACADM):c.945+19G>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3685353	NM_000016.6(ACADM):c.1096A>C (p.Asn366His)	ACADM (N330H +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3684891	NM_000016.6(ACADM):c.163T>C (p.Phe55Leu)	ACADM (F55L +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3683977	NM_000016.6(ACADM):c.1059T>C (p.Tyr353=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3676611	NM_000016.6(ACADM):c.726G>A (p.Gln242=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3675616	NM_000016.6(ACADM):c.469-20C>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3673779	NM_000016.6(ACADM):c.959C>T (p.Ser320Leu)	ACADM (S284L +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3673776	NM_000016.6(ACADM):c.463A>G (p.Met155Val)	ACADM (M119V +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3672131	NM_000016.6(ACADM):c.654C>T (p.Ala218=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3667072	NM_000016.6(ACADM):c.468+3_468+6del	ACADM	Deletion (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3664748	NM_000016.6(ACADM):c.191C>T (p.Ala64Val)	ACADM (A64V +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3664743	NM_000016.6(ACADM):c.1073A>G (p.Lys358Arg)	ACADM (K362R +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3662623	NM_000016.6(ACADM):c.487C>A (p.Pro163Thr)	ACADM (P127T +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3657852	NM_000016.6(ACADM):c.1204G>T (p.Gly402Cys)	ACADM (G366C +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3656657	NM_000016.6(ACADM):c.203A>G (p.Asp68Gly)	ACADM (D68G +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3656469	NM_000016.6(ACADM):c.344G>A (p.Gly115Glu)	ACADM (G79E +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 3654965	NM_000016.6(ACADM):c.522C>A (p.Thr174=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3653361	NM_000016.6(ACADM):c.880A>G (p.Arg294Gly)	ACADM (R294G +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3652215	NM_000016.6(ACADM):c.850-1G>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3643644	NM_000016.6(ACADM):c.1103T>G (p.Leu368Ter)	ACADM (L332* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3640598	NM_000016.6(ACADM):c.74_75del (p.Thr25fs)	ACADM (T29fs +1 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3640333	NM_000016.6(ACADM):c.119-20T>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3638072	NM_000016.6(ACADM):c.663A>G (p.Gly221=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3631518	NM_000016.6(ACADM):c.217-19T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3624604	NM_000016.6(ACADM):c.850-16T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3620937	NM_000016.6(ACADM):c.118+17A>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3612935	NM_000016.6(ACADM):c.1133G>A (p.Gly378Asp)	ACADM (G189D +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3611525	NM_000016.6(ACADM):c.826G>C (p.Ala276Pro)	ACADM (A240P +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3604094	NM_000016.6(ACADM):c.30+7G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3587922	NM_000016.6(ACADM):c.1190A>G (p.Tyr397Cys)	ACADM (Y208C +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3587918	NM_000016.6(ACADM):c.1118T>G (p.Val373Gly)	ACADM (V337G +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3587910	NM_000016.6(ACADM):c.1110dup (p.Asp371Ter)	ACADM (D182* +4 more)	Duplication (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3587873	NM_000016.6(ACADM):c.745G>A (p.Gly249Arg)	ACADM (G213R +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3587872	NM_000016.6(ACADM):c.669del (p.Ile223fs)	ACADM (I187fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3587746	NM_000016.6(ACADM):c.118G>T (p.Glu40Ter)	ACADM (E40* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3383028	NM_000016.6(ACADM):c.157C>G (p.Arg53Gly)	ACADM (R17G +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3336488	NM_000016.6(ACADM):c.86G>A (p.Arg29Gln)	ACADM (R29Q +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3251329	NM_000016.6(ACADM):c.799G>C (p.Gly267Arg)	ACADM (G231R +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3247654	NC_000001.10:g.(?_76214646)_(76216163_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247653	NC_000001.10:g.(?_76211471)_(76227075_?)dup	ACADM	Duplication	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3247652	NC_000001.10:g.(?_76198309)_(76200576_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247651	NC_000001.10:g.(?_76226787)_(76228448_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247650	NC_000001.10:g.(?_76190473)_(76194193_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247649	NC_000001.10:g.(?_76190473)_(76190522_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247648	NC_000001.10:g.(?_76190473)_(76228448_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3240833	NM_000016.6(ACADM):c.217-2A>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240832	NM_000016.6(ACADM):c.222del (p.Val75fs)	ACADM (V39fs +2 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240831	NM_000016.6(ACADM):c.712_715del (p.Leu238fs)	ACADM (L202fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240826	NM_000016.6(ACADM):c.287-1G>A	ACADM	Single nucleotide variant (splice acceptor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240820	NM_000016.6(ACADM):c.1169_1170del (p.Leu390fs)	ACADM (L201fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240812	NM_000016.6(ACADM):c.1036_1045delinsAAT (p.Ser346fs)	ACADM (S157fs +4 more)	Indel (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240810	NM_000016.6(ACADM):c.31-1G>C	ACADM (Q14H)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240809	NM_000016.6(ACADM):c.572G>A (p.Trp191Ter)	ACADM (W155* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3240807	NM_000016.6(ACADM):c.1129G>T (p.Gly377Ter)	ACADM (G188* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240785	NM_000016.6(ACADM):c.901A>T (p.Lys301Ter)	ACADM (K112* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3240779	NM_000016.6(ACADM):c.1195-2A>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3239711	NM_000016.6(ACADM):c.1194+1dup	ACADM	Duplication (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3239710	NM_000016.6(ACADM):c.242_243insT (p.Trp82fs)	ACADM (W46fs +2 more)	Insertion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3019500	NM_000016.6(ACADM):c.118+11G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3019017	NM_000016.6(ACADM):c.945+20C>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3017481	NM_000016.6(ACADM):c.1195-14T>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3016635	NM_000016.6(ACADM):c.702G>T (p.Gly234=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3009807	NM_000016.6(ACADM):c.469-20C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3008973	NM_000016.6(ACADM):c.712T>C (p.Leu238=)	ACADM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2998975	NM_000016.6(ACADM):c.217-4C>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2998627	NM_000016.6(ACADM):c.1029G>A (p.Glu343=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2994873	NM_000016.6(ACADM):c.945+11T>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2990949	NM_000016.6(ACADM):c.1195-15A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2989080	NM_000016.6(ACADM):c.599+17A>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2987377	NM_000016.6(ACADM):c.1194+16A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2985584	NM_000016.6(ACADM):c.217-8T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2981036	NM_000016.6(ACADM):c.850-6T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2963785	NM_000016.6(ACADM):c.849+13G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2956704	NM_000016.6(ACADM):c.101G>T (p.Gly34Val)	ACADM (G34V +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2920488	NM_000016.6(ACADM):c.850-15A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2920466	NM_000016.6(ACADM):c.709-19A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2920356	NM_000016.6(ACADM):c.945+13C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2919608	NM_000016.6(ACADM):c.468+20G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2918368	NM_000016.6(ACADM):c.469-16T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2917034	NM_000016.6(ACADM):c.1188C>G (p.Ile396Met)	ACADM (I400M +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2916291	NM_000016.6(ACADM):c.850-19T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2916275	NM_000016.6(ACADM):c.217-12T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2915996	NM_000016.6(ACADM):c.900C>G (p.Thr300=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2914709	NM_000016.6(ACADM):c.972T>A (p.Ala324=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2914611	NM_000016.6(ACADM):c.709-13A>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign

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