89[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 584254	NC_000001.11:g.(?_75541435)_(76074884_?)del	LOC129930769, ACADM +21 more	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 682747	NM_000016.4(ACADM):c.-728C>G	ACADM	Single nucleotide variant	not provided	GBenign
Select item 1221272	NC_000001.11:g.75724261G>T	ACADM	Single nucleotide variant	not provided	GBenign
Select item 674048	NM_000016.5(ACADM):c.-436C>G	ACADM	Single nucleotide variant	not provided	GBenign
Select item 298057	NM_000016.5(ACADM):c.-403C>T	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298058	NM_000016.6(ACADM):c.-401G>A	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 298059	NM_000016.5(ACADM):c.-375C>T	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298060	NM_000016.6(ACADM):c.-362T>C	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 298061	NM_000016.5(ACADM):c.-342G>T	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298062	NM_000016.5(ACADM):c.-304A>G	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298063	NM_000016.6(ACADM):c.-257G>A	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 298064	NM_000016.5(ACADM):c.-169C>T	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298065	NM_000016.6(ACADM):c.-142C>G	ACADM	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 298066	NM_000016.5(ACADM):c.-92A>G	ACADM, LOC129930772	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 876394	NM_000016.6(ACADM):c.-78G>C	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298067	NM_000016.6(ACADM):c.-50A>T	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 136258	NM_000016.6(ACADM):c.-34T>C	ACADM	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 298068	NM_000016.6(ACADM):c.-29T>C	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 226052	NM_000016.6(ACADM):c.-17C>G	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GUncertain significance
Select item 966945	NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)	ACADM (M1fs)	Indel (frameshift variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1428164	NM_000016.6(ACADM):c.1A>T (p.Met1Leu)	ACADM (M1L)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 370802	NM_000016.6(ACADM):c.1A>G (p.Met1Val)	ACADM (M1V)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2733904	NM_000016.6(ACADM):c.2T>G (p.Met1Arg)	ACADM (M1R)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 555765	NM_000016.6(ACADM):c.3G>C (p.Met1Ile)	ACADM (M1I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1570166	NM_000016.6(ACADM):c.6A>G (p.Ala2=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1144965	NM_000016.6(ACADM):c.6A>T (p.Ala2=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1125582	NM_000016.6(ACADM):c.6A>C (p.Ala2=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2197475	NM_000016.6(ACADM):c.10G>A (p.Gly4Arg)	ACADM (G4R)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2166644	NM_000016.6(ACADM):c.11G>T (p.Gly4Val)	ACADM (G4V)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2140627	NM_000016.6(ACADM):c.12G>A (p.Gly4=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1512550	NM_000016.6(ACADM):c.12G>T (p.Gly4=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1090807	NM_000016.6(ACADM):c.12G>C (p.Gly4=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
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 1999030	NM_000016.6(ACADM):c.17G>A (p.Gly6Glu)	ACADM (G6E)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1677127	NM_000016.6(ACADM):c.19C>T (p.Arg7Ter)	ACADM (R7*)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3260827	NM_000016.6(ACADM):c.20G>A (p.Arg7Gln)	ACADM (R7Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 799225	NM_000016.6(ACADM):c.21A>G (p.Arg7=)	ACADM (M1V)	Single nucleotide variant (synonymous variant +3 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1420172	NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)	ACADM (C8* +1 more)	Single nucleotide variant (nonsense +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1980596	NM_000016.6(ACADM):c.30+1G>C	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1369032	NM_000016.6(ACADM):c.30+2T>G	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 551031	NM_000016.6(ACADM):c.30+2T>C	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1469362	NM_000016.6(ACADM):c.30+4A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2892428	NM_000016.6(ACADM):c.30+5G>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1973375	NM_000016.6(ACADM):c.30+8G>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1143007	NM_000016.6(ACADM):c.30+8G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1080657	NM_000016.6(ACADM):c.30+9G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1077645	NM_000016.6(ACADM):c.30+9G>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 506817	NM_000016.6(ACADM):c.30+10A>G	ACADM	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2884791	NM_000016.6(ACADM):c.30+11G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2891558	NM_000016.6(ACADM):c.30+14C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
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 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 1292156	NM_000016.6(ACADM):c.30+66C>T	ACADM, LOC129930773	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676188	NM_000016.6(ACADM):c.30+67C>G	ACADM, LOC129930773	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245182	NM_000016.6(ACADM):c.30+188C>A	ACADM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226074	NM_000016.6(ACADM):c.31-73T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign
Select item 226080	NM_000016.6(ACADM):c.31-37C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 254691	NM_000016.6(ACADM):c.31-32C>G	ACADM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1957976	NM_000016.6(ACADM):c.31-20A>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2836405	NM_000016.6(ACADM):c.31-19A>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2069777	NM_000016.6(ACADM):c.31-17A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1922232	NM_000016.6(ACADM):c.31-16A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1901397	NM_000016.6(ACADM):c.31-13G>A	ACADM	Single nucleotide variant (splice acceptor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2149281	NM_000016.6(ACADM):c.31-12T>G	ACADM (C11G)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2139697	NM_000016.6(ACADM):c.31-12T>C	ACADM (C11R)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1532040	NM_000016.6(ACADM):c.31-8C>T	ACADM (S12F)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2132659	NM_000016.6(ACADM):c.31-5T>A	ACADM (L13*)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1577936	NM_000016.6(ACADM):c.31-5T>C	ACADM (L13S)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1151258	NM_000016.6(ACADM):c.31-4A>G	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1347938	NM_000016.6(ACADM):c.31-2A>G	ACADM (Q14R)	Single nucleotide variant (missense variant +2 more)	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 1715241	NM_000016.6(ACADM):c.32T>C (p.Val11Ala)	ACADM (V11A +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 751349	NM_000016.6(ACADM):c.33C>T (p.Val11=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1095518	NM_000016.6(ACADM):c.34C>T (p.Leu12=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 528454	NM_000016.6(ACADM):c.47del (p.Ser16fs)	ACADM (S20fs +1 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 226078	NM_000016.6(ACADM):c.50G>A (p.Arg17His)	ACADM (R17H +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2842801	NM_000016.6(ACADM):c.54T>C (p.Phe18=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1391546	NM_000016.6(ACADM):c.56A>G (p.His19Arg)	ACADM (H19R +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298069	NM_000016.6(ACADM):c.57T>C (p.His19=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 515346	NM_000016.6(ACADM):c.61A>C (p.Arg21=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2860059	NM_000016.6(ACADM):c.65C>G (p.Ser22Ter)	ACADM (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 2023607	NM_000016.6(ACADM):c.65C>A (p.Ser22Ter)	ACADM (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 665907	NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	ACADM (Q27* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1805139	NM_000016.6(ACADM):c.71A>G (p.His24Arg)	ACADM (H24R +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 551808	NM_000016.6(ACADM):c.76_78dup (p.Lys26dup)	ACADM	Duplication (inframe_insertion +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1363324	NM_000016.6(ACADM):c.77A>C (p.Lys26Thr)	ACADM (K30T +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2707527	NM_000016.6(ACADM):c.81C>T (p.Ala27=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2888497	NM_000016.6(ACADM):c.83A>G (p.Asn28Ser)	ACADM (N32S +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 928650	NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)	ACADM (R29* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3336488	NM_000016.6(ACADM):c.86G>A (p.Arg29Gln)	ACADM (R29Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 203537	NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)	ACADM (R29L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1353196	NM_000016.6(ACADM):c.87A>G (p.Arg29=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1642416	NM_000016.6(ACADM):c.90A>G (p.Gln30=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign

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