ClinVar for Gene (Select 5007) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303521	NM_002556.3(OSBP):c.764T>C (p.Ile255Thr)	OSBP (I255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303520	NM_002556.3(OSBP):c.1739C>T (p.Thr580Ile)	OSBP (T580I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303519	NM_002556.3(OSBP):c.884A>G (p.Gln295Arg)	OSBP (Q295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303518	NM_002556.3(OSBP):c.949C>T (p.His317Tyr)	OSBP (H317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207004	NM_002556.3(OSBP):c.649A>G (p.Lys217Glu)	OSBP (K217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207003	NM_002556.3(OSBP):c.2300A>G (p.Tyr767Cys)	LOC126861218, OSBP (Y767C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207002	NM_002556.3(OSBP):c.2236T>G (p.Ser746Ala)	LOC126861218, OSBP (S746A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207001	NM_002556.3(OSBP):c.2054C>G (p.Pro685Arg)	OSBP (P685R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207000	NM_002556.3(OSBP):c.1801G>T (p.Val601Leu)	OSBP (V601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206999	NM_002556.3(OSBP):c.1789G>A (p.Glu597Lys)	OSBP (E597K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206998	NM_002556.3(OSBP):c.1127G>A (p.Arg376His)	OSBP (R376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206997	NM_002556.3(OSBP):c.1092G>C (p.Glu364Asp)	OSBP (E364D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206996	NM_002556.3(OSBP):c.1067A>G (p.Glu356Gly)	OSBP (E356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3052491	NM_002556.3(OSBP):c.396T>C (p.Gly132=)	OSBP	Single nucleotide variant (synonymous variant)	OSBP-related disorder	GLikely benign
Select item 3050586	NM_002556.3(OSBP):c.184G>T (p.Ala62Ser)	LOC130005752, OSBP (A62S)	Single nucleotide variant (missense variant)	OSBP-related disorder	GLikely benign
Select item 3045940	NM_002556.3(OSBP):c.102C>T (p.Gly34=)	LOC130005752, OSBP	Single nucleotide variant (synonymous variant)	OSBP-related disorder	GLikely benign
Select item 3042371	NM_002556.3(OSBP):c.936G>A (p.Ala312=)	OSBP	Single nucleotide variant (synonymous variant)	OSBP-related disorder	GLikely benign
Select item 3040584	NM_002556.3(OSBP):c.1053C>T (p.Ser351=)	OSBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037925	NM_002556.3(OSBP):c.-14GGC[3]	LOC130005753, OSBP	Microsatellite (5 prime UTR variant)	OSBP-related disorder	GLikely benign
Select item 3034806	NM_002556.3(OSBP):c.84A>G (p.Pro28=)	LOC130005752, OSBP	Single nucleotide variant (synonymous variant)	OSBP-related disorder	GBenign
Select item 2622531	NM_002556.3(OSBP):c.214C>G (p.Pro72Ala)	LOC130005752, OSBP (P72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608213	NM_002556.3(OSBP):c.899A>G (p.Gln300Arg)	OSBP (Q300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607551	NM_002556.3(OSBP):c.32G>C (p.Gly11Ala)	OSBP (G11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597988	NM_002556.3(OSBP):c.179C>T (p.Pro60Leu)	LOC130005752, OSBP (P60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570103	NM_002556.3(OSBP):c.1385G>A (p.Arg462Gln)	OSBP (R462Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560369	NM_002556.3(OSBP):c.1040A>G (p.Lys347Arg)	OSBP (K347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518177	NM_002556.3(OSBP):c.268G>T (p.Ala90Ser)	OSBP (A90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514190	NM_002556.3(OSBP):c.419A>G (p.Asn140Ser)	OSBP (N140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2411728	NM_002556.3(OSBP):c.2415C>A (p.Asp805Glu)	LOC126861218, OSBP (D805E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387260	NM_002556.3(OSBP):c.161C>T (p.Ala54Val)	LOC130005752, OSBP (A54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381311	NM_002556.3(OSBP):c.2212C>T (p.Arg738Cys)	LOC126861218, OSBP (R738C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373220	NM_002556.3(OSBP):c.241G>A (p.Gly81Ser)	LOC130005752, OSBP (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295741	NM_002556.3(OSBP):c.1821C>G (p.Asp607Glu)	OSBP (D607E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240677	NM_002556.3(OSBP):c.986C>T (p.Pro329Leu)	OSBP (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225045	NM_002556.3(OSBP):c.127T>G (p.Ser43Ala)	LOC130005752, OSBP (S43A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 786194	NM_002556.3(OSBP):c.1557+10C>T	OSBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783595	NM_002556.3(OSBP):c.567G>A (p.Glu189=)	OSBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780974	NM_002556.3(OSBP):c.1312-4del	OSBP	Deletion (intron variant)	not provided	GBenign
Select item 599576	NM_002556.3(OSBP):c.1519C>T (p.Arg507Ter)	OSBP (R507*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48