LOC130009157[gene] - ClinVar

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Items: 23

	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 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 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 2733662	NM_005505.5(SCARB1):c.126+4G>A	LOC130009157, SCARB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3006072	NM_005505.5(SCARB1):c.91A>T (p.Met31Leu)	LOC130009157, SCARB1 (M31L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502161	NM_005505.5(SCARB1):c.83T>C (p.Met28Thr)	LOC130009157, SCARB1 (M28T)	Single nucleotide variant (missense variant +1 more)	High density lipoprotein cholesterol level quantitative trait locus 6	GUncertain significance
Select item 788443	NM_005505.5(SCARB1):c.63C>T (p.Cys21=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3021709	NM_005505.5(SCARB1):c.54G>A (p.Gly18=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899547	NM_005505.5(SCARB1):c.51G>C (p.Ala17=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1722187	NM_005505.5(SCARB1):c.38C>T (p.Ala13Val)	LOC130009157, SCARB1 (A13V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2762851	NM_005505.5(SCARB1):c.33C>G (p.Ala11=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1290029	NM_005505.5(SCARB1):c.21G>C (p.Ala7=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2257015	NM_005505.5(SCARB1):c.16A>G (p.Lys6Glu)	LOC130009157, SCARB1 (K6E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1283556	NM_005505.5(SCARB1):c.12C>T (p.Ser4=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2401008	NM_005505.5(SCARB1):c.11C>G (p.Ser4Cys)	LOC130009157, SCARB1 (S4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1264359	NM_005505.5(SCARB1):c.4G>A (p.Gly2Ser)	LOC130009157, SCARB1 (G2S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Items: 23