30424[HGNC] - ClinVar

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Items: 30

	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 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 2330476	NM_139015.5(SPPL3):c.814A>G (p.Ile272Val)	SPPL3 (I272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262851	NM_139015.5(SPPL3):c.719A>G (p.Asn240Ser)	SPPL3 (N240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623495	NM_139015.5(SPPL3):c.716C>A (p.Pro239His)	SPPL3 (P239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169358	NM_139015.5(SPPL3):c.682C>G (p.Leu228Val)	SPPL3 (L228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322356	NM_139015.5(SPPL3):c.511A>G (p.Met171Val)	SPPL3 (M171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319547	NM_139015.5(SPPL3):c.298A>G (p.Ile100Val)	SPPL3 (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343314	NM_139015.5(SPPL3):c.232A>G (p.Ile78Val)	SPPL3 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454302	NM_139015.5(SPPL3):c.26C>T (p.Ala9Val)	SPPL3 (A9V)	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 3244257	NC_000012.11:g.(?_121163689)_(121438995_?)del	ACADS, HNF1A +1 more	Deletion	Deficiency of butyryl-CoA dehydrogenase	GPathogenic
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 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	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 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 988611	GRCh37/hg19 12q24.31(chr12:121200681-121428630)x1	HNF1A, SPPL3	Copy number loss	See cases	GUncertain significance
Select item 980996	GRCh37/hg19 12q24.31(chr12:121253899-121570366)x3	C12orf43, HNF1A +2 more	Copy number gain	not provided	GUncertain significance
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 563934	GRCh37/hg19 12q24.31(chr12:121070791-121422367)x3	ACADS, CABP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 493603	GRCh37/hg19 12q24.31(chr12:121017665-121496723)x3	ACADS, C12orf43 +7 more	Copy number gain	not provided	GLikely benign
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: 30