28524[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	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 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	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 2237345	NM_001130058.2(SLC44A5):c.2048-2796T>C	SLC44A5 (V713A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164860	NM_001130058.2(SLC44A5):c.2048-2808A>G	SLC44A5 (K703R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300407	NM_001130058.2(SLC44A5):c.2048-2869A>T	SLC44A5 (N683Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164859	NM_001130058.2(SLC44A5):c.1960C>G (p.Leu654Val)	SLC44A5 (L612V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308037	NM_001130058.2(SLC44A5):c.1916T>C (p.Ile639Thr)	SLC44A5 (I597T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319854	NM_001130058.2(SLC44A5):c.1893C>G (p.Phe631Leu)	SLC44A5 (F625L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211009	NM_001130058.2(SLC44A5):c.1876G>A (p.Val626Ile)	SLC44A5 (V584I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471118	NM_001130058.2(SLC44A5):c.1870A>G (p.Ile624Val)	SLC44A5 (I624V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164858	NM_001130058.2(SLC44A5):c.1843C>G (p.Leu615Val)	SLC44A5 (L573V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319856	NM_001130058.2(SLC44A5):c.1787T>C (p.Met596Thr)	SLC44A5 (M590T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536990	NM_001130058.2(SLC44A5):c.1778A>G (p.Asn593Ser)	SLC44A5 (N593S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319853	NM_001130058.2(SLC44A5):c.1661G>A (p.Cys554Tyr)	SLC44A5 (C512Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233727	NM_001130058.2(SLC44A5):c.1648T>C (p.Phe550Leu)	SLC44A5 (F550L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209616	NM_001130058.2(SLC44A5):c.1411G>A (p.Val471Ile)	SLC44A5 (V465I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244068	NM_001130058.2(SLC44A5):c.1285A>G (p.Ile429Val)	SLC44A5 (I387V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164857	NM_001130058.2(SLC44A5):c.1240C>G (p.His414Asp)	SLC44A5 (H372D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164856	NM_001130058.2(SLC44A5):c.1175C>T (p.Ala392Val)	SLC44A5 (A350V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588325	NM_001130058.2(SLC44A5):c.1135A>T (p.Ile379Phe)	SLC44A5 (I373F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164855	NM_001130058.2(SLC44A5):c.1118A>G (p.Tyr373Cys)	SLC44A5 (Y373C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319858	NM_001130058.2(SLC44A5):c.1018A>G (p.Ile340Val)	SLC44A5 (I334V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240465	NM_001130058.2(SLC44A5):c.1001T>C (p.Ile334Thr)	SLC44A5 (I292T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478553	NM_001130058.2(SLC44A5):c.929G>A (p.Gly310Glu)	SLC44A5 (G268E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319859	NM_001130058.2(SLC44A5):c.918C>G (p.Ile306Met)	SLC44A5 (I264M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540838	NM_001130058.2(SLC44A5):c.896G>A (p.Arg299His)	SLC44A5 (R293H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164864	NM_001130058.2(SLC44A5):c.812T>A (p.Phe271Tyr)	SLC44A5 (F265Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319852	NM_001130058.2(SLC44A5):c.763C>T (p.Leu255Phe)	SLC44A5 (L255F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164863	NM_001130058.2(SLC44A5):c.620G>T (p.Gly207Val)	SLC44A5 (G165V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466190	NM_001130058.2(SLC44A5):c.512C>T (p.Ala171Val)	SLC44A5 (A129V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164862	NM_001130058.2(SLC44A5):c.509C>A (p.Thr170Lys)	SLC44A5 (T128K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164861	NM_001130058.2(SLC44A5):c.482A>G (p.Gln161Arg)	SLC44A5 (Q161R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319857	NM_001130058.2(SLC44A5):c.373T>A (p.Phe125Ile)	SLC44A5 (F119I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519301	NM_001130058.2(SLC44A5):c.295C>T (p.Arg99Cys)	SLC44A5 (R93C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394767	NM_001130058.2(SLC44A5):c.128T>C (p.Met43Thr)	SLC44A5 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306711	NM_001130058.2(SLC44A5):c.73C>G (p.Pro25Ala)	SLC44A5 (P19A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319855	NM_001130058.2(SLC44A5):c.58C>T (p.Pro20Ser)	SLC44A5 (P14S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314181	NM_001130058.2(SLC44A5):c.29C>T (p.Thr10Ile)	SLC44A5 (T10I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319860	NM_001130058.2(SLC44A5):c.20C>A (p.Pro7Gln)	SLC44A5 (P7Q)	Single nucleotide variant (missense variant +2 more)	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 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685455	GRCh37/hg19 1p31.1(chr1:75958717-76641372)x1	ACADM, ASB17 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814101	GRCh37/hg19 1p31.1(chr1:75958394-76008622)x1	SLC44A5	Copy number loss	not provided	GUncertain significance
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565111	GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3	LRRIQ3, FPGT-TNNI3K +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 493562	GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3	ACADM, ASB17 +14 more	Copy number gain	not provided	GUncertain significance
Select item 443881	GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1	ACADM, AK5 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442374	GRCh37/hg19 1p31.1(chr1:76050176-76623228)x3	ACADM, ASB17 +4 more	Copy number gain	See cases	GLikely benign
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63