OSBPL11[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 2343016	NM_022776.5(OSBPL11):c.2066A>C (p.Glu689Ala)	OSBPL11 (E689A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284633	NM_022776.5(OSBPL11):c.2027G>A (p.Arg676Gln)	OSBPL11 (R676Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489063	NM_022776.5(OSBPL11):c.2023A>T (p.Arg675Trp)	OSBPL11 (R675W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303535	NM_022776.5(OSBPL11):c.1976C>T (p.Thr659Met)	OSBPL11 (T659M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222236	NM_022776.5(OSBPL11):c.1921T>A (p.Phe641Ile)	OSBPL11 (F641I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309804	NM_022776.5(OSBPL11):c.1676A>G (p.His559Arg)	OSBPL11 (H559R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393060	NM_022776.5(OSBPL11):c.1657A>G (p.Ile553Val)	OSBPL11 (I553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617696	NM_022776.5(OSBPL11):c.1595A>G (p.His532Arg)	OSBPL11 (H532R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207035	NM_022776.5(OSBPL11):c.1487G>A (p.Gly496Glu)	OSBPL11 (G496E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246990	NM_022776.5(OSBPL11):c.1468G>C (p.Glu490Gln)	OSBPL11 (E490Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402457	NM_022776.5(OSBPL11):c.1463C>T (p.Ser488Leu)	OSBPL11 (S488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352685	NM_022776.5(OSBPL11):c.1437G>C (p.Gln479His)	OSBPL11 (Q479H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207034	NM_022776.5(OSBPL11):c.1399G>A (p.Glu467Lys)	OSBPL11 (E467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369875	NM_022776.5(OSBPL11):c.1330A>G (p.Ile444Val)	OSBPL11 (I444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537107	NM_022776.5(OSBPL11):c.1282T>A (p.Phe428Ile)	OSBPL11 (F428I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207033	NM_022776.5(OSBPL11):c.1240G>T (p.Ala414Ser)	OSBPL11 (A414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303537	NM_022776.5(OSBPL11):c.1238T>C (p.Ile413Thr)	OSBPL11 (I413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373685	NM_022776.5(OSBPL11):c.1168A>G (p.Thr390Ala)	OSBPL11 (T390A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337298	NM_022776.5(OSBPL11):c.1027A>G (p.Ile343Val)	OSBPL11 (I343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588658	NM_022776.5(OSBPL11):c.946A>C (p.Thr316Pro)	OSBPL11 (T316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591828	NM_022776.5(OSBPL11):c.913C>T (p.His305Tyr)	OSBPL11 (H305Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2358640	NM_022776.5(OSBPL11):c.910A>T (p.Asn304Tyr)	OSBPL11 (N304Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275911	NM_022776.5(OSBPL11):c.892C>G (p.Pro298Ala)	OSBPL11 (P298A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232548	NM_022776.5(OSBPL11):c.856T>G (p.Ser286Ala)	OSBPL11 (S286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495999	NM_022776.5(OSBPL11):c.815T>G (p.Phe272Cys)	OSBPL11 (F272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300711	NM_022776.5(OSBPL11):c.727A>C (p.Thr243Pro)	OSBPL11 (T243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303534	NM_022776.5(OSBPL11):c.667A>G (p.Met223Val)	OSBPL11 (M223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303538	NM_022776.5(OSBPL11):c.658G>T (p.Val220Phe)	OSBPL11 (V220F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207040	NM_022776.5(OSBPL11):c.647A>G (p.His216Arg)	OSBPL11 (H216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603634	NM_022776.5(OSBPL11):c.631A>T (p.Asn211Tyr)	OSBPL11 (N211Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484771	NM_022776.5(OSBPL11):c.581C>A (p.Ser194Tyr)	OSBPL11 (S194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292096	NM_022776.5(OSBPL11):c.547A>G (p.Ile183Val)	OSBPL11 (I183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207038	NM_022776.5(OSBPL11):c.385A>G (p.Ser129Gly)	OSBPL11 (S129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405181	NM_022776.5(OSBPL11):c.145G>A (p.Ala49Thr)	OSBPL11 (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405560	NM_022776.5(OSBPL11):c.127A>G (p.Ser43Gly)	OSBPL11 (S43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303536	NM_022776.5(OSBPL11):c.59A>C (p.Glu20Ala)	OSBPL11 (E20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558151	NM_022776.5(OSBPL11):c.44G>C (p.Ser15Thr)	OSBPL11 (S15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479485	NM_022776.5(OSBPL11):c.30G>A (p.Met10Ile)	OSBPL11 (M10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207037	NM_022776.5(OSBPL11):c.28A>G (p.Met10Val)	OSBPL11 (M10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239469	NM_022776.5(OSBPL11):c.7G>T (p.Gly3Trp)	OSBPL11 (G3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1704652	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3	ALDH1L1, KLF15 +5 more	Copy number gain	Chromosome 16 trisomy	GUncertain significance
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1341148	GRCh37/hg19 3q21.2(chr3:125169451-125401510)x1	OSBPL11, SNX4	Copy number loss	not provided	GUncertain significance
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 685939	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442544	GRCh37/hg19 3q21.2-21.3(chr3:124990032-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442219	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126087100)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 63