ClinVar for Gene (Select 5319) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3214063	NM_000928.3(PLA2G1B):c.247T>C (p.Cys83Arg)	PLA2G1B (C83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214062	NM_000928.3(PLA2G1B):c.164G>A (p.Gly55Asp)	PLA2G1B (G55D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595890	NM_000928.3(PLA2G1B):c.208C>T (p.His70Tyr)	PLA2G1B (H70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589574	NM_000928.3(PLA2G1B):c.398A>G (p.Tyr133Cys)	PLA2G1B (Y133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466130	NM_000928.3(PLA2G1B):c.250A>G (p.Lys84Glu)	PLA2G1B (K84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305213	NM_000928.3(PLA2G1B):c.368A>G (p.Asn123Ser)	PLA2G1B (N123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261734	NM_000928.3(PLA2G1B):c.43G>A (p.Ala15Thr)	PLA2G1B (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 735650	NM_000928.3(PLA2G1B):c.195-10C>T	PLA2G1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729359	NM_000928.3(PLA2G1B):c.365G>A (p.Arg122His)	PLA2G1B (R122H)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23