9796[HGNC] - ClinVar

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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	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +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

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Items: 37