OSBPL9[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 2559930	NM_024586.6(OSBPL9):c.19G>A (p.Gly7Arg)	OSBPL9 (G7R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2259428	NM_024586.6(OSBPL9):c.158T>C (p.Leu53Pro)	OSBPL9 (L53P)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2223946	NM_024586.6(OSBPL9):c.193G>A (p.Asp65Asn)	OSBPL9 (D65N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486431	NM_024586.6(OSBPL9):c.245G>A (p.Arg82His)	OSBPL9 (R65H +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2343428	NM_024586.6(OSBPL9):c.420T>G (p.Phe140Leu)	OSBPL9 (F163L +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2248371	NM_024586.6(OSBPL9):c.458G>A (p.Arg153Lys)	OSBPL9 (R56K +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2360870	NM_024586.6(OSBPL9):c.617C>T (p.Pro206Leu)	OSBPL9 (P193L +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2278677	NM_024586.6(OSBPL9):c.630A>T (p.Glu210Asp)	OSBPL9 (E32D +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2471671	NM_024586.6(OSBPL9):c.1001A>G (p.Asp334Gly)	OSBPL9 (D224G +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351655	NM_024586.6(OSBPL9):c.1120G>A (p.Val374Ile)	OSBPL9 (V264I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609678	NM_024586.6(OSBPL9):c.1274A>G (p.Asp425Gly)	OSBPL9 (D425G +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343270	NM_024586.6(OSBPL9):c.1948A>G (p.Ile650Val)	OSBPL9 (I464V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295902	NM_024586.6(OSBPL9):c.1952A>G (p.Lys651Arg)	OSBPL9 (K436R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409797	NM_024586.6(OSBPL9):c.2117A>G (p.Glu706Gly)	OSBPL9 (E491G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348718	NM_024586.6(OSBPL9):c.2144A>G (p.His715Arg)	OSBPL9 (H725R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1809237	GRCh37/hg19 1p32.3(chr1:51797643-52256345)x3	EPS15, NRDC +2 more	Copy number gain	not provided	GUncertain significance
Select item 1526993	GRCh37/hg19 1p32.3(chr1:51755130-52521150)	EPS15, KTI12 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1341174	GRCh37/hg19 1p32.3(chr1:51850394-52256345)x3	EPS15, NRDC +1 more	Copy number gain	not provided	GUncertain significance
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565096	GRCh37/hg19 1p32.3(chr1:52192823-52364203)x1	NRDC, OSBPL9	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	ACOT11, BTF3L4 +42 more	Copy number loss	See cases	GPathogenic

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Items: 29