ClinVar for Gene (Select 114885) - ClinVar

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

Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3303537	NM_022776.5(OSBPL11):c.1238T>C (p.Ile413Thr)	OSBPL11 (I413T)	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 3303535	NM_022776.5(OSBPL11):c.1976C>T (p.Thr659Met)	OSBPL11 (T659M)	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 3207040	NM_022776.5(OSBPL11):c.647A>G (p.His216Arg)	OSBPL11 (H216R)	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 3207037	NM_022776.5(OSBPL11):c.28A>G (p.Met10Val)	OSBPL11 (M10V)	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 3207034	NM_022776.5(OSBPL11):c.1399G>A (p.Glu467Lys)	OSBPL11 (E467K)	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 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	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 2603634	NM_022776.5(OSBPL11):c.631A>T (p.Asn211Tyr)	OSBPL11 (N211Y)	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 2588658	NM_022776.5(OSBPL11):c.946A>C (p.Thr316Pro)	OSBPL11 (T316P)	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 2537107	NM_022776.5(OSBPL11):c.1282T>A (p.Phe428Ile)	OSBPL11 (F428I)	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 2489063	NM_022776.5(OSBPL11):c.2023A>T (p.Arg675Trp)	OSBPL11 (R675W)	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 2479485	NM_022776.5(OSBPL11):c.30G>A (p.Met10Ile)	OSBPL11 (M10I)	Single nucleotide variant (missense variant)	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 2405560	NM_022776.5(OSBPL11):c.127A>G (p.Ser43Gly)	OSBPL11 (S43G)	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 2402457	NM_022776.5(OSBPL11):c.1463C>T (p.Ser488Leu)	OSBPL11 (S488L)	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 2373685	NM_022776.5(OSBPL11):c.1168A>G (p.Thr390Ala)	OSBPL11 (T390A)	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 2358640	NM_022776.5(OSBPL11):c.910A>T (p.Asn304Tyr)	OSBPL11 (N304Y)	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 2343016	NM_022776.5(OSBPL11):c.2066A>C (p.Glu689Ala)	OSBPL11 (E689A)	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 2309804	NM_022776.5(OSBPL11):c.1676A>G (p.His559Arg)	OSBPL11 (H559R)	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 2292096	NM_022776.5(OSBPL11):c.547A>G (p.Ile183Val)	OSBPL11 (I183V)	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 2275911	NM_022776.5(OSBPL11):c.892C>G (p.Pro298Ala)	OSBPL11 (P298A)	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 2239469	NM_022776.5(OSBPL11):c.7G>T (p.Gly3Trp)	OSBPL11 (G3W)	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 2222236	NM_022776.5(OSBPL11):c.1921T>A (p.Phe641Ile)	OSBPL11 (F641I)	Single nucleotide variant (missense variant)	not specified	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
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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	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 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 63