ClinVar for Gene (Select 114881) - 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 3303585	NM_145798.3(OSBPL7):c.430C>A (p.His144Asn)	OSBPL7 (H144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303584	NM_145798.3(OSBPL7):c.428C>T (p.Ala143Val)	OSBPL7 (A143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303583	NM_145798.3(OSBPL7):c.703G>A (p.Ala235Thr)	OSBPL7 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303582	NM_145798.3(OSBPL7):c.449G>C (p.Arg150Pro)	OSBPL7 (R150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303581	NM_145798.3(OSBPL7):c.475C>T (p.Arg159Trp)	OSBPL7 (R159W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303580	NM_145798.3(OSBPL7):c.1286G>A (p.Ser429Asn)	OSBPL7 (S429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303579	NM_145798.3(OSBPL7):c.23C>T (p.Pro8Leu)	OSBPL7 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303578	NM_145798.3(OSBPL7):c.359A>G (p.Tyr120Cys)	OSBPL7 (Y120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303577	NM_145798.3(OSBPL7):c.974G>A (p.Arg325Gln)	OSBPL7 (R325Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3207109	NM_145798.3(OSBPL7):c.947G>A (p.Ser316Asn)	OSBPL7 (S316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207108	NM_145798.3(OSBPL7):c.902G>A (p.Arg301His)	OSBPL7 (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207107	NM_145798.3(OSBPL7):c.878C>T (p.Pro293Leu)	OSBPL7 (P293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207106	NM_145798.3(OSBPL7):c.746G>A (p.Ser249Asn)	OSBPL7 (S249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207105	NM_145798.3(OSBPL7):c.539C>T (p.Pro180Leu)	OSBPL7 (P180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207104	NM_145798.3(OSBPL7):c.434G>A (p.Arg145His)	OSBPL7 (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207103	NM_145798.3(OSBPL7):c.433C>T (p.Arg145Cys)	OSBPL7 (R145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207102	NM_145798.3(OSBPL7):c.2423G>A (p.Arg808Gln)	OSBPL7 (R808Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207101	NM_145798.3(OSBPL7):c.1870A>G (p.Ser624Gly)	OSBPL7 (S624G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207100	NM_145798.3(OSBPL7):c.182C>T (p.Pro61Leu)	OSBPL7 (P61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207099	NM_145798.3(OSBPL7):c.1526G>A (p.Arg509Gln)	OSBPL7 (R509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207098	NM_145798.3(OSBPL7):c.1321G>T (p.Asp441Tyr)	OSBPL7 (D441Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207097	NM_145798.3(OSBPL7):c.1225G>T (p.Val409Phe)	OSBPL7 (V409F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207095	NM_145798.3(OSBPL7):c.1052G>A (p.Arg351His)	OSBPL7 (R351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647879	NM_145798.3(OSBPL7):c.795+8C>T	OSBPL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647878	NM_145798.3(OSBPL7):c.1722C>T (p.Arg574=)	OSBPL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607637	NM_145798.3(OSBPL7):c.863C>T (p.Thr288Ile)	OSBPL7 (T288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602585	NM_145798.3(OSBPL7):c.449G>A (p.Arg150His)	OSBPL7 (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590850	NM_145798.3(OSBPL7):c.1654G>A (p.Gly552Ser)	OSBPL7 (G552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547767	NM_145798.3(OSBPL7):c.1712G>T (p.Arg571Leu)	OSBPL7 (R571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541405	NM_145798.3(OSBPL7):c.371T>A (p.Ile124Asn)	OSBPL7 (I124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539479	NM_145798.3(OSBPL7):c.566G>A (p.Arg189Lys)	OSBPL7 (R189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521705	NM_145798.3(OSBPL7):c.1339C>T (p.Arg447Cys)	OSBPL7 (R447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516879	NM_145798.3(OSBPL7):c.1625C>T (p.Ser542Leu)	OSBPL7 (S542L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511097	NM_145798.3(OSBPL7):c.412C>T (p.Arg138Cys)	OSBPL7 (R138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508449	NM_145798.3(OSBPL7):c.1340G>A (p.Arg447His)	OSBPL7 (R447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 2472928	NM_145798.3(OSBPL7):c.848G>A (p.Arg283Gln)	OSBPL7 (R283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394577	NM_145798.3(OSBPL7):c.1406C>T (p.Ala469Val)	OSBPL7 (A469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373357	NM_145798.3(OSBPL7):c.1387C>T (p.Arg463Cys)	OSBPL7 (R463C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343845	NM_145798.3(OSBPL7):c.461C>T (p.Pro154Leu)	OSBPL7 (P154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339690	NM_145798.3(OSBPL7):c.1912A>G (p.Thr638Ala)	OSBPL7 (T638A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330347	NM_145798.3(OSBPL7):c.1987C>G (p.Gln663Glu)	OSBPL7 (Q663E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328578	NM_145798.3(OSBPL7):c.247C>T (p.Arg83Trp)	OSBPL7 (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317745	NM_145798.3(OSBPL7):c.682C>T (p.Pro228Ser)	OSBPL7 (P228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313660	NM_145798.3(OSBPL7):c.1051C>T (p.Arg351Cys)	OSBPL7 (R351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287005	NM_145798.3(OSBPL7):c.1150C>T (p.Leu384Phe)	OSBPL7 (L384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283295	NM_145798.3(OSBPL7):c.1966G>A (p.Glu656Lys)	OSBPL7 (E656K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281407	NM_145798.3(OSBPL7):c.707C>T (p.Ser236Leu)	OSBPL7 (S236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264783	NM_145798.3(OSBPL7):c.2132G>A (p.Arg711Gln)	OSBPL7 (R711Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223264	NM_145798.3(OSBPL7):c.2087G>A (p.Arg696His)	OSBPL7 (R696H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217526	NM_145798.3(OSBPL7):c.293G>A (p.Arg98Gln)	OSBPL7 (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205233	NM_145798.3(OSBPL7):c.2119G>C (p.Glu707Gln)	OSBPL7 (E707Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599329	NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn)	OSBPL7 (D360N)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 564451	GRCh37/hg19 17q21.32(chr17:45884442-46124946)x3	PRR15L, SP6 +9 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 145638	GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1	CDK5RAP3, LOC109286563 +26 more	Copy number loss	See cases	GUncertain significance
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	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