ClinVar for Gene (Select 114882) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2598812	NM_020841.5(OSBPL8):c.100G>A (p.Glu34Lys)	OSBPL8 (E34K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541155	NM_020841.5(OSBPL8):c.927C>G (p.Phe309Leu)	OSBPL8 (F309L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535822	NM_020841.5(OSBPL8):c.2317C>T (p.Arg773Cys)	OSBPL8 (R731C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513491	NM_020841.5(OSBPL8):c.278C>T (p.Ser93Leu)	OSBPL8 (S51L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490088	NM_020841.5(OSBPL8):c.146A>C (p.Lys49Thr)	OSBPL8 (K46T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484682	NM_020841.5(OSBPL8):c.170A>G (p.Lys57Arg)	OSBPL8 (K54R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383211	NM_020841.5(OSBPL8):c.971A>G (p.Gln324Arg)	OSBPL8 (Q282R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378189	NM_020841.5(OSBPL8):c.2152A>G (p.Arg718Gly)	OSBPL8 (R718G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370335	NM_020841.5(OSBPL8):c.1511A>T (p.Lys504Ile)	OSBPL8 (K501I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360040	NM_020841.5(OSBPL8):c.1093T>C (p.Tyr365His)	OSBPL8 (Y340H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331469	NM_020841.5(OSBPL8):c.241A>G (p.Ile81Val)	OSBPL8 (I39V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322636	NM_020841.5(OSBPL8):c.1385T>C (p.Leu462Ser)	OSBPL8 (L437S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312389	NM_020841.5(OSBPL8):c.649G>A (p.Glu217Lys)	OSBPL8 (E217K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287628	NM_020841.5(OSBPL8):c.722G>A (p.Ser241Asn)	OSBPL8 (S199N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278288	NM_020841.5(OSBPL8):c.2159G>A (p.Arg720Gln)	OSBPL8 (R717Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269178	NM_020841.5(OSBPL8):c.739G>A (p.Ala247Thr)	OSBPL8 (A222T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221969	NM_020841.5(OSBPL8):c.935A>G (p.Asn312Ser)	OSBPL8 (N287S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219308	NM_020841.5(OSBPL8):c.2318G>T (p.Arg773Leu)	OSBPL8 (R731L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808968	GRCh37/hg19 12q21.2(chr12:76812664-76891516)x1	OSBPL8	Copy number loss	not provided	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 980444	GRCh37/hg19 12q21.2(chr12:76557730-76885572)x3	BBS10, OSBPL8	Copy number gain	not provided	GLikely benign
Select item 815537	GRCh37/hg19 12q21.2(chr12:76708985-76800739)x1	BBS10, OSBPL8	Copy number loss	not provided	GUncertain significance
Select item 551609	NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)	BBS10, OSBPL8 (R256*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221490	GRCh37/hg19 12q21.2(chr12:76763038-76780400)x4	OSBPL8	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +287 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 34