OSBPL3[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 149206	GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1	LOC129998102, LOC129998103 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 2205049	NM_015550.4(OSBPL3):c.2575G>A (p.Asp859Asn)	OSBPL3 (D792N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523560	NM_015550.4(OSBPL3):c.2521C>T (p.Arg841Trp)	OSBPL3 (R805W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207059	NM_015550.4(OSBPL3):c.2503C>G (p.Leu835Val)	OSBPL3 (L768V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512283	NM_015550.4(OSBPL3):c.2323A>G (p.Met775Val)	OSBPL3 (M775V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283280	NM_015550.4(OSBPL3):c.2231G>A (p.Gly744Glu)	OSBPL3 (G708E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356481	NM_015550.4(OSBPL3):c.2086G>A (p.Gly696Arg)	OSBPL3 (G665R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207056	NM_015550.4(OSBPL3):c.2060C>T (p.Thr687Ile)	OSBPL3 (T620I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270338	NM_015550.4(OSBPL3):c.2045A>G (p.Glu682Gly)	OSBPL3 (E682G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478880	NM_015550.4(OSBPL3):c.2026G>T (p.Val676Phe)	OSBPL3 (V609F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542793	NM_015550.4(OSBPL3):c.1957T>C (p.Trp653Arg)	OSBPL3 (W586R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369563	NM_015550.4(OSBPL3):c.1915C>A (p.His639Asn)	OSBPL3 (H572N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408687	NM_015550.4(OSBPL3):c.1885G>A (p.Val629Ile)	OSBPL3 (V598I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466642	NM_015550.4(OSBPL3):c.1850G>A (p.Arg617Gln)	OSBPL3 (R617Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207055	NM_015550.4(OSBPL3):c.1775C>T (p.Ala592Val)	OSBPL3 (A525V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287296	NM_015550.4(OSBPL3):c.1562C>T (p.Pro521Leu)	OSBPL3 (P454L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257906	NM_015550.4(OSBPL3):c.1562C>G (p.Pro521Arg)	OSBPL3 (P485R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296010	NM_015550.4(OSBPL3):c.1532G>A (p.Arg511Gln)	OSBPL3 (R444Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345168	NM_015550.4(OSBPL3):c.1523C>T (p.Ala508Val)	OSBPL3 (A508V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408427	NM_015550.4(OSBPL3):c.1498C>T (p.Pro500Ser)	OSBPL3 (P433S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321107	NM_015550.4(OSBPL3):c.1250G>T (p.Gly417Val)	OSBPL3 (G417V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339779	NM_015550.4(OSBPL3):c.1225G>A (p.Asp409Asn)	OSBPL3 (D409N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389270	NM_015550.4(OSBPL3):c.1189C>T (p.Arg397Cys)	OSBPL3 (R366C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595171	NM_015550.4(OSBPL3):c.1118C>T (p.Pro373Leu)	OSBPL3 (P342L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512678	NM_015550.4(OSBPL3):c.1093A>T (p.Met365Leu)	OSBPL3 (M334L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462198	NM_015550.4(OSBPL3):c.996G>A (p.Met332Ile)	OSBPL3 (M301I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246446	NM_015550.4(OSBPL3):c.875C>T (p.Pro292Leu)	OSBPL3 (P292L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279879	NM_015550.4(OSBPL3):c.824G>A (p.Arg275Lys)	OSBPL3 (R275K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335501	NM_015550.4(OSBPL3):c.815C>T (p.Ser272Leu)	OSBPL3 (S272L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207065	NM_015550.4(OSBPL3):c.778G>A (p.Gly260Ser)	OSBPL3 (G260S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496089	NM_015550.4(OSBPL3):c.760G>A (p.Ala254Thr)	OSBPL3 (A254T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207063	NM_015550.4(OSBPL3):c.748T>C (p.Tyr250His)	OSBPL3 (Y250H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224709	NM_015550.4(OSBPL3):c.733G>A (p.Val245Ile)	OSBPL3 (V245I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466143	NM_015550.4(OSBPL3):c.700G>A (p.Val234Ile)	OSBPL3 (V234I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207062	NM_015550.4(OSBPL3):c.689A>G (p.His230Arg)	OSBPL3 (H230R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206702	NM_015550.4(OSBPL3):c.524T>C (p.Val175Ala)	OSBPL3 (V175A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331352	NM_015550.4(OSBPL3):c.518C>G (p.Ser173Cys)	OSBPL3 (S173C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256389	NM_015550.4(OSBPL3):c.481C>T (p.His161Tyr)	OSBPL3 (H161Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207061	NM_015550.4(OSBPL3):c.470A>G (p.His157Arg)	OSBPL3 (H157R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2455070	NM_015550.4(OSBPL3):c.460A>G (p.Met154Val)	OSBPL3 (M154V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206168	NM_015550.4(OSBPL3):c.416C>T (p.Ser139Leu)	OSBPL3 (S139L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530516	NM_015550.4(OSBPL3):c.304G>A (p.Gly102Arg)	OSBPL3 (G102R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207058	NM_015550.4(OSBPL3):c.218T>C (p.Phe73Ser)	OSBPL3 (F73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535405	NM_015550.4(OSBPL3):c.157G>A (p.Val53Ile)	OSBPL3 (V53I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2405342	NM_015550.4(OSBPL3):c.126G>C (p.Arg42Ser)	OSBPL3 (R42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285023	NM_015550.4(OSBPL3):c.88A>G (p.Ser30Gly)	OSBPL3 (S30G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238808	NM_015550.4(OSBPL3):c.62C>T (p.Thr21Ile)	OSBPL3 (T21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207060	NM_015550.4(OSBPL3):c.28G>A (p.Val10Met)	OSBPL3 (V10M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611177	NM_015550.4(OSBPL3):c.22C>G (p.Leu8Val)	OSBPL3 (L8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2425103	NC_000007.13:g.(?_24738645)_(25163738_?)dup	OSBPL3, CYCS +1 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527343	GRCh37/hg19 7p15.3(chr7:24423444-24894650)	GSDME, OSBPL3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814948	GRCh37/hg19 7p15.3(chr7:24676088-25075802)x3	PALS2, GSDME +1 more	Copy number gain	not provided	GUncertain significance
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 563373	GRCh37/hg19 7p15.3(chr7:24346679-25023700)x3	GSDME, PALS2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443815	GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1	CBX3, CREB5 +31 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 83