ClinVar for Gene (Select 23762) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207016	NM_030758.4(OSBP2):c.953C>T (p.Thr318Met)	OSBP2 (T318M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207015	NM_030758.4(OSBP2):c.568C>T (p.Leu190Phe)	OSBP2 (L190F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207014	NM_030758.4(OSBP2):c.266A>G (p.Glu89Gly)	OSBP2 (E89G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207013	NM_030758.4(OSBP2):c.260C>T (p.Thr87Met)	OSBP2 (T87M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207012	NM_030758.4(OSBP2):c.235A>G (p.Arg79Gly)	OSBP2 (R79G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207011	NM_030758.4(OSBP2):c.2281C>T (p.His761Tyr)	LOC107985544, OSBP2 (H394Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207010	NM_030758.4(OSBP2):c.2185C>T (p.Arg729Trp)	LOC107985544, OSBP2 (R563W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207009	NM_030758.4(OSBP2):c.1725G>T (p.Glu575Asp)	LOC107985544, OSBP2 (E409D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207008	NM_030758.4(OSBP2):c.1684C>A (p.His562Asn)	LOC107985544, OSBP2 (H106N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207007	NM_030758.4(OSBP2):c.1513T>G (p.Ser505Ala)	LOC107985544, OSBP2 (S505A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3207006	NM_030758.4(OSBP2):c.1026C>G (p.Ile342Met)	OSBP2 (I84M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207005	NM_030758.4(OSBP2):c.1012G>A (p.Asp338Asn)	OSBP2 (D338N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653061	NM_030758.4(OSBP2):c.1314T>C (p.Thr438=)	LOC107985544, OSBP2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2653060	NM_030758.4(OSBP2):c.258G>A (p.Thr86=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624355	NM_030758.4(OSBP2):c.1514C>T (p.Ser505Phe)	LOC107985544, OSBP2 (S505F +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2618868	NM_030758.4(OSBP2):c.1135G>A (p.Glu379Lys)	LOC107985544, OSBP2 (E121K +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2617503	NM_030758.4(OSBP2):c.1145G>A (p.Ser382Asn)	LOC107985544, OSBP2 (S16N +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2550466	NM_030758.4(OSBP2):c.1597C>T (p.Arg533Trp)	LOC107985544, OSBP2 (R367W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547873	NM_030758.4(OSBP2):c.1090T>G (p.Ser364Ala)	OSBP2 (S199A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540208	NM_030758.4(OSBP2):c.549C>G (p.Asp183Glu)	OSBP2 (D183E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534057	NM_030758.4(OSBP2):c.823A>G (p.Lys275Glu)	OSBP2 (K275E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526682	NM_030758.4(OSBP2):c.2089G>A (p.Asp697Asn)	LOC107985544, OSBP2 (D696N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508768	NM_030758.4(OSBP2):c.1261C>T (p.Pro421Ser)	LOC107985544, OSBP2 (P163S +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2493945	NM_030758.4(OSBP2):c.2186G>A (p.Arg729Gln)	LOC107985544, OSBP2 (R362Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485670	NM_030758.4(OSBP2):c.1786G>A (p.Ala596Thr)	LOC107985544, OSBP2 (A430T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400431	NM_030758.4(OSBP2):c.2032G>A (p.Val678Met)	LOC107985544, OSBP2 (V420M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380611	NM_030758.4(OSBP2):c.1243C>T (p.Arg415Trp)	LOC107985544, OSBP2 (R157W +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2370001	NM_030758.4(OSBP2):c.1186C>T (p.Arg396Cys)	LOC107985544, OSBP2 (R231C +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2343038	NM_030758.4(OSBP2):c.2061C>A (p.His687Gln)	LOC107985544, OSBP2 (H686Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311330	NM_030758.4(OSBP2):c.1444A>G (p.Thr482Ala)	LOC107985544, OSBP2 (T224A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2301696	NM_030758.4(OSBP2):c.2465T>G (p.Leu822Arg)	LOC107985544, OSBP2 (L564R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301256	NM_030758.4(OSBP2):c.10G>A (p.Ala4Thr)	OSBP2 (A4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266197	NM_030758.4(OSBP2):c.1683C>A (p.His561Gln)	LOC107985544, OSBP2 (H194Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264933	NM_030758.4(OSBP2):c.2276T>C (p.Val759Ala)	LOC107985544, OSBP2 (V303A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245567	NM_030758.4(OSBP2):c.752G>C (p.Ser251Thr)	OSBP2 (S251T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244242	NM_030758.4(OSBP2):c.1067G>A (p.Arg356Gln)	OSBP2 (R191Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222949	NM_030758.4(OSBP2):c.1886C>A (p.Pro629His)	LOC107985544, OSBP2 (P173H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217955	NM_030758.4(OSBP2):c.1926C>A (p.Ser642Arg)	LOC107985544, OSBP2 (S275R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217556	NM_030758.4(OSBP2):c.1535G>A (p.Arg512His)	LOC107985544, OSBP2 (R511H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	SF3A1, SFI1 +71 more	Duplication	not provided	GUncertain significance
Select item 1280755	NM_030758.4(OSBP2):c.2658T>C (p.Asp886=)	LOC107985544, OSBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1261963	NM_030758.4(OSBP2):c.984T>C (p.Ala328=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 788933	NM_030758.4(OSBP2):c.75G>C (p.Thr25=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788839	NM_030758.4(OSBP2):c.409C>T (p.Leu137Phe)	OSBP2 (L137F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 785684	NM_030758.4(OSBP2):c.2558G>A (p.Arg853His)	LOC107985544, OSBP2 (R595H +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784559	NM_030758.4(OSBP2):c.1476+13dup	LOC107985544, OSBP2	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 777683	NM_030758.4(OSBP2):c.990C>T (p.Leu330=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775453	NM_030758.4(OSBP2):c.2018G>C (p.Ser673Thr)	LOC107985544, OSBP2 (S673T +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717865	NM_030758.4(OSBP2):c.1752T>C (p.Ser584=)	LOC107985544, OSBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712285	NM_030758.4(OSBP2):c.369A>G (p.Ala123=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709619	NM_030758.4(OSBP2):c.1476+9G>C	LOC107985544, OSBP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 564994	GRCh37/hg19 22q12.2(chr22:30902886-31260395)x3	GAL3ST1, DUSP18 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	AP1B1, ASCC2 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 394679	GRCh37/hg19 22q12.2(chr22:31032078-31095882)x3	DUSP18, OSBP2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	LOC130067166, LOC130067167 +260 more	Copy number loss	See cases	GPathogenic
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 73