ClinVar for Gene (Select 26031) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303565	NM_015550.4(OSBPL3):c.797C>A (p.Pro266His)	OSBPL3 (P266H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303564	NM_015550.4(OSBPL3):c.421C>T (p.Leu141Phe)	OSBPL3 (L141F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303562	NM_015550.4(OSBPL3):c.2023C>T (p.Pro675Ser)	OSBPL3 (P675S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303561	NM_015550.4(OSBPL3):c.835A>G (p.Arg279Gly)	OSBPL3 (R279G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303560	NM_015550.4(OSBPL3):c.737T>G (p.Leu246Arg)	OSBPL3 (L246R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303559	NM_015550.4(OSBPL3):c.1376T>C (p.Leu459Ser)	OSBPL3 (L428S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303558	NM_015550.4(OSBPL3):c.2186G>C (p.Ser729Thr)	OSBPL3 (S698T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303557	NM_015550.4(OSBPL3):c.1834A>G (p.Thr612Ala)	OSBPL3 (T581A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303556	NM_015550.4(OSBPL3):c.842T>C (p.Ile281Thr)	OSBPL3 (I281T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303555	NM_015550.4(OSBPL3):c.292T>A (p.Cys98Ser)	OSBPL3 (C98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303554	NM_015550.4(OSBPL3):c.92G>A (p.Arg31Gln)	OSBPL3 (R31Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245921	NC_000007.13:g.(?_24323410)_(25163738_?)dup	CYCS, GSDME +3 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2425103	NC_000007.13:g.(?_24738645)_(25163738_?)dup	CYCS, GSDME +1 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 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 149206	GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1	LOC129998102, LOC129998103 +73 more	Copy number loss	See cases	GLikely pathogenic
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 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 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	CUL1, CUX1 +4737 more	Copy number loss	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 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	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

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: 95