RABGGTB[gene] - ClinVar

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

Search results

Items: 37

	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 3150928	NM_004582.4(RABGGTB):c.14A>G (p.Gln5Arg)	RABGGTB (Q5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308514	NM_004582.4(RABGGTB):c.79A>G (p.Ile27Val)	RABGGTB (I27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480784	NM_004582.4(RABGGTB):c.243A>C (p.Glu81Asp)	RABGGTB (E81D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513895	NM_004582.4(RABGGTB):c.317C>T (p.Thr106Met)	RABGGTB (T106M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589946	NM_004582.4(RABGGTB):c.333T>G (p.Ile111Met)	RABGGTB (I111M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615646	NM_004582.4(RABGGTB):c.409A>G (p.Ile137Val)	RABGGTB (I137V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312238	NM_004582.4(RABGGTB):c.582C>G (p.Ile194Met)	RABGGTB (I194M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025688	NM_004582.4(RABGGTB):c.678A>G (p.Ser226=)	RABGGTB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2350856	NM_004582.4(RABGGTB):c.698C>T (p.Pro233Leu)	RABGGTB (P233L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336546	NM_004582.4(RABGGTB):c.773T>C (p.Ile258Thr)	RABGGTB (I258T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150929	NM_004582.4(RABGGTB):c.784A>G (p.Lys262Glu)	RABGGTB (K262E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150930	NM_004582.4(RABGGTB):c.857T>C (p.Val286Ala)	RABGGTB (V286A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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
Select item 395043	GRCh37/hg19 1p31.1(chr1:76255060-76259801)x1	RABGGTB	Copy number loss	See cases	GLikely benign

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: 37