28722[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 978826	NC_000012.12:g.120502295_120511884dup	COQ5	Duplication	Coenzyme q10 deficiency, primary, 9	GPathogenic
Select item 2601514	NM_032314.4(COQ5):c.934G>A (p.Glu312Lys)	COQ5 (E312K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756765	NM_032314.4(COQ5):c.870G>A (p.Arg290=)	COQ5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2313919	NM_032314.4(COQ5):c.842A>T (p.Tyr281Phe)	COQ5 (Y281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268984	NM_032314.4(COQ5):c.826G>A (p.Gly276Arg)	COQ5 (G276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 742153	NM_032314.4(COQ5):c.771-6G>A	COQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2532533	NM_032314.4(COQ5):c.756T>A (p.Asn252Lys)	COQ5 (N252K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599513	NM_032314.4(COQ5):c.722G>A (p.Arg241Gln)	COQ5 (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268987	NM_032314.4(COQ5):c.678T>G (p.Asp226Glu)	COQ5 (D226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 871736	NM_032314.4(COQ5):c.611C>A (p.Pro204His)	COQ5 (P204H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2307271	NM_032314.4(COQ5):c.596A>T (p.Asp199Val)	COQ5 (D199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768593	NM_032314.4(COQ5):c.575-7C>G	COQ5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2544276	NM_032314.4(COQ5):c.520A>C (p.Lys174Gln)	COQ5 (K174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522235	NM_032314.4(COQ5):c.497G>A (p.Arg166His)	COQ5 (R166H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599838	NM_032314.4(COQ5):c.496C>T (p.Arg166Cys)	COQ5 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076326	NM_032314.4(COQ5):c.491G>A (p.Gly164Glu)	COQ5 (G164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076325	NM_032314.4(COQ5):c.481T>C (p.Ser161Pro)	COQ5 (S161P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265476	NM_032314.4(COQ5):c.461A>C (p.Glu154Ala)	COQ5 (E154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790131	NM_032314.4(COQ5):c.395A>G (p.His132Arg)	COQ5 (H132R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 871737	NM_032314.4(COQ5):c.353G>A (p.Gly118Asp)	COQ5 (G118D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3035335	NM_032314.4(COQ5):c.352+8C>T	COQ5	Single nucleotide variant (intron variant)	COQ5-related disorder	GLikely benign
Select item 3053215	NM_032314.4(COQ5):c.333T>G (p.Leu111=)	COQ5	Single nucleotide variant (synonymous variant)	COQ5-related disorder	GLikely benign
Select item 2672526	NM_032314.4(COQ5):c.314T>C (p.Leu105Pro)	COQ5 (L105P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3060152	NM_032314.4(COQ5):c.312G>A (p.Pro104=)	COQ5	Single nucleotide variant (synonymous variant)	COQ5-related disorder	GBenign
Select item 3268983	NM_032314.4(COQ5):c.307C>G (p.His103Asp)	COQ5 (H103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335120	NM_032314.4(COQ5):c.267T>C (p.Gly89=)	COQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363151	NM_032314.4(COQ5):c.261T>G (p.Ser87Arg)	COQ5 (S87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076324	NM_032314.4(COQ5):c.251A>G (p.Asp84Gly)	COQ5 (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285644	NM_032314.4(COQ5):c.181G>A (p.Glu61Lys)	COQ5 (E61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268986	NM_032314.4(COQ5):c.176T>C (p.Val59Ala)	COQ5 (V59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026809	NM_032314.4(COQ5):c.156G>T (p.Thr52=)	COQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076322	NM_032314.4(COQ5):c.100C>T (p.Pro34Ser)	COQ5 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531012	NM_032314.4(COQ5):c.86T>C (p.Leu29Pro)	COQ5 (L29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460821	NM_032314.4(COQ5):c.31A>C (p.Ser11Arg)	COQ5 (S11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268985	NM_032314.4(COQ5):c.23C>A (p.Ala8Asp)	COQ5 (A8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727118	NM_032314.4(COQ5):c.16A>G (p.Ser6Gly)	COQ5 (S6G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3076323	NM_032314.4(COQ5):c.13G>A (p.Gly5Arg)	COQ5 (G5R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310731	NM_032314.4(COQ5):c.10C>T (p.Pro4Ser)	COQ5 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1809497	GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4	ACADS, CABP1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1808296	GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3	COQ5, COX6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 54