OSBPL8[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 45

	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 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic
Select item 551609	NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)	BBS10, OSBPL8 (R256*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3303586	NM_020841.5(OSBPL8):c.2638C>T (p.Leu880Phe)	OSBPL8 (L855F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207117	NM_020841.5(OSBPL8):c.2443G>A (p.Val815Ile)	OSBPL8 (V815I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207116	NM_020841.5(OSBPL8):c.2318G>A (p.Arg773His)	OSBPL8 (R770H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219308	NM_020841.5(OSBPL8):c.2318G>T (p.Arg773Leu)	OSBPL8 (R731L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535822	NM_020841.5(OSBPL8):c.2317C>T (p.Arg773Cys)	OSBPL8 (R731C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207114	NM_020841.5(OSBPL8):c.2306A>G (p.Lys769Arg)	OSBPL8 (K727R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303587	NM_020841.5(OSBPL8):c.2277G>T (p.Gln759His)	OSBPL8 (Q717H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207113	NM_020841.5(OSBPL8):c.2263A>C (p.Asn755His)	OSBPL8 (N730H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278288	NM_020841.5(OSBPL8):c.2159G>A (p.Arg720Gln)	OSBPL8 (R717Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378189	NM_020841.5(OSBPL8):c.2152A>G (p.Arg718Gly)	OSBPL8 (R718G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207111	NM_020841.5(OSBPL8):c.1982C>T (p.Pro661Leu)	OSBPL8 (P619L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370335	NM_020841.5(OSBPL8):c.1511A>T (p.Lys504Ile)	OSBPL8 (K501I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322636	NM_020841.5(OSBPL8):c.1385T>C (p.Leu462Ser)	OSBPL8 (L437S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207110	NM_020841.5(OSBPL8):c.1138A>G (p.Thr380Ala)	OSBPL8 (T338A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360040	NM_020841.5(OSBPL8):c.1093T>C (p.Tyr365His)	OSBPL8 (Y340H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383211	NM_020841.5(OSBPL8):c.971A>G (p.Gln324Arg)	OSBPL8 (Q282R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221969	NM_020841.5(OSBPL8):c.935A>G (p.Asn312Ser)	OSBPL8 (N287S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541155	NM_020841.5(OSBPL8):c.927C>G (p.Phe309Leu)	OSBPL8 (F309L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269178	NM_020841.5(OSBPL8):c.739G>A (p.Ala247Thr)	OSBPL8 (A222T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287628	NM_020841.5(OSBPL8):c.722G>A (p.Ser241Asn)	OSBPL8 (S199N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312389	NM_020841.5(OSBPL8):c.649G>A (p.Glu217Lys)	OSBPL8 (E217K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207119	NM_020841.5(OSBPL8):c.367G>A (p.Val123Ile)	OSBPL8 (V120I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207118	NM_020841.5(OSBPL8):c.347C>G (p.Thr116Arg)	OSBPL8 (T113R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513491	NM_020841.5(OSBPL8):c.278C>T (p.Ser93Leu)	OSBPL8 (S51L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331469	NM_020841.5(OSBPL8):c.241A>G (p.Ile81Val)	OSBPL8 (I39V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207112	NM_020841.5(OSBPL8):c.206C>T (p.Pro69Leu)	OSBPL8 (P66L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484682	NM_020841.5(OSBPL8):c.170A>G (p.Lys57Arg)	OSBPL8 (K54R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490088	NM_020841.5(OSBPL8):c.146A>C (p.Lys49Thr)	OSBPL8 (K46T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598812	NM_020841.5(OSBPL8):c.100G>A (p.Glu34Lys)	OSBPL8 (E34K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 1808968	GRCh37/hg19 12q21.2(chr12:76812664-76891516)x1	OSBPL8	Copy number loss	not provided	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 980444	GRCh37/hg19 12q21.2(chr12:76557730-76885572)x3	BBS10, OSBPL8	Copy number gain	not provided	GLikely benign
Select item 815537	GRCh37/hg19 12q21.2(chr12:76708985-76800739)x1	BBS10, OSBPL8	Copy number loss	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 221490	GRCh37/hg19 12q21.2(chr12:76763038-76780400)x4	OSBPL8	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45