Related gene-specific medical variations for Gene (Select 34) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2874343	NM_000016.6(ACADM):c.30+18G>C	ACADM, LOC129930773	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2740990	NM_000016.6(ACADM):c.30+18G>T	ACADM, LOC129930773	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2680006	NM_000016.6(ACADM):c.830_831dup (p.Asp278fs)	ACADM (D242fs +4 more)	Duplication (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679997	NM_000016.6(ACADM):c.1097del (p.Asn366fs)	ACADM (N177fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679988	NM_000016.6(ACADM):c.205A>T (p.Lys69Ter)	ACADM (K33* +2 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679967	NM_000016.6(ACADM):c.608dup (p.Leu203fs)	ACADM (L14fs +4 more)	Duplication (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679958	NM_000016.6(ACADM):c.474T>A (p.Tyr158Ter)	ACADM (Y122* +3 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679955	NM_000016.6(ACADM):c.1237del (p.Arg413fs)	ACADM (R224fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679950	NM_000016.6(ACADM):c.567del (p.Met190fs)	ACADM (M154fs +3 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679943	NM_000016.6(ACADM):c.117del (p.Phe39fs)	ACADM (F39fs +1 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679931	NM_000016.6(ACADM):c.865G>A (p.Val289Ile)	ACADM (V100I +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679926	NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser)	ACADM (R224S +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 2679921	NM_000016.6(ACADM):c.217-1del	ACADM	Deletion (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679920	NM_000016.6(ACADM):c.945+1G>A	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679916	NM_000016.6(ACADM):c.1250_1256del (p.Asp417fs)	ACADM (D228fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679912	NM_000016.6(ACADM):c.270_271dup (p.Ile91fs)	ACADM (I55fs +2 more)	Microsatellite (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679894	NM_000016.6(ACADM):c.387+2T>C	ACADM	Single nucleotide variant (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679875	NM_000016.6(ACADM):c.709-2A>G	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679839	NM_000016.6(ACADM):c.245G>A (p.Trp82Ter)	ACADM (W46* +2 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679809	NM_000016.6(ACADM):c.1250_1253delinsCT (p.Asp417fs)	ACADM (D228fs +4 more)	Indel (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679791	NM_000016.6(ACADM):c.308T>A (p.Phe103Tyr)	ACADM (F103Y +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679765	NM_000016.6(ACADM):c.387+2T>A	ACADM	Single nucleotide variant (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2439336	NM_000016.6(ACADM):c.1194+2T>G	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2438806	NM_000016.6(ACADM):c.806G>A (p.Gly269Asp)	ACADM (G233D +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2438805	NM_000016.6(ACADM):c.719T>C (p.Met240Thr)	ACADM (M204T +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1630646	NM_000016.6(ACADM):c.30+18G>A	ACADM, LOC129930773	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1550053	NM_000016.6(ACADM):c.30+20T>C	ACADM, LOC129930773	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1331078	NM_000016.6(ACADM):c.232dup (p.Ile78fs)	ACADM (I42fs +2 more)	Duplication (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 1323842	NM_000016.6(ACADM):c.1068_1071dup (p.Lys358fs)	ACADM (K169fs +4 more)	Duplication (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 1292156	NM_000016.6(ACADM):c.30+66C>T	ACADM, LOC129930773	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 990172	NM_000016.6(ACADM):c.640C>G (p.Pro214Ala)	ACADM (P178A +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 990171	NM_000016.6(ACADM):c.595A>G (p.Asn199Asp)	ACADM (N10D +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 990170	NM_000016.6(ACADM):c.564G>A (p.Gln188=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 676188	NM_000016.6(ACADM):c.30+67C>G	ACADM, LOC129930773	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 617949	NM_000016.6(ACADM):c.15C>A (p.Phe5Leu)	ACADM (F5L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 565114	GRCh37/hg19 1p31.1(chr1:76088639-76214360)x1	ACADM	Copy number loss	not provided	GUncertain significance
Select item 257514	NM_000016.6(ACADM):c.477T>G (p.Cys159Trp)	ACADM (C159W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 235753	NM_000016.6(ACADM):c.849+1G>A	ACADM	Single nucleotide variant (splice donor variant)	not provided	GPathogenic

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Links from Gene

Items: 58