LOC107985544[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	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
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	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 3303527	NM_030758.4(OSBP2):c.1147C>G (p.Arg383Gly)	LOC107985544, OSBP2 (R218G +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 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 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 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 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 784559	NM_030758.4(OSBP2):c.1476+13dup	LOC107985544, OSBP2	Duplication (non-coding transcript 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 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 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 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 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 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 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 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 717865	NM_030758.4(OSBP2):c.1752T>C (p.Ser584=)	LOC107985544, OSBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 3303526	NM_030758.4(OSBP2):c.2207G>C (p.Ser736Thr)	LOC107985544, OSBP2 (S736T +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 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 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 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 1280755	NM_030758.4(OSBP2):c.2658T>C (p.Asp886=)	LOC107985544, OSBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Items: 41