OBI1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
Select item 147734	GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1	EDNRB, EDNRB-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 147955	GRCh38/hg38 13q22.3-31.1(chr13:78177388-78681122)x1	LOC110120950, LOC130009931 +5 more	Copy number loss	See cases	GBenign
Select item 150046	GRCh38/hg38 13q22.3-31.3(chr13:78304802-91283940)x1	LINC00331, LINC00333 +87 more	Copy number loss	See cases	GPathogenic
Select item 57644	GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1	DCT, GPC5 +121 more	Copy number loss	See cases	GPathogenic
Select item 3203700	NM_024546.4(OBI1):c.2140A>G (p.Ser714Gly)	OBI1, OBI1-AS1 (S714G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203699	NM_024546.4(OBI1):c.2138G>A (p.Ser713Asn)	OBI1, OBI1-AS1 (S713N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301824	NM_024546.4(OBI1):c.2099A>G (p.Asn700Ser)	OBI1, OBI1-AS1 (N700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558854	NM_024546.4(OBI1):c.2084T>G (p.Val695Gly)	OBI1, OBI1-AS1 (V695G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2592024	NM_024546.4(OBI1):c.2048A>G (p.His683Arg)	OBI1, OBI1-AS1 (H683R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203698	NM_024546.4(OBI1):c.2039A>G (p.His680Arg)	OBI1, OBI1-AS1 (H680R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2493238	NM_024546.4(OBI1):c.2038C>T (p.His680Tyr)	OBI1, OBI1-AS1 (H680Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2486437	NM_024546.4(OBI1):c.1992A>C (p.Glu664Asp)	OBI1, OBI1-AS1 (E664D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2521354	NM_024546.4(OBI1):c.1979A>G (p.His660Arg)	OBI1, OBI1-AS1 (H660R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203697	NM_024546.4(OBI1):c.1847C>T (p.Ser616Phe)	OBI1, OBI1-AS1 (S616F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203696	NM_024546.4(OBI1):c.1727T>C (p.Phe576Ser)	OBI1, OBI1-AS1 (F576S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203693	NM_024546.4(OBI1):c.1682C>T (p.Ser561Leu)	OBI1, OBI1-AS1 (S561L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301823	NM_024546.4(OBI1):c.1655A>G (p.Lys552Arg)	OBI1, OBI1-AS1 (K552R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547688	NM_024546.4(OBI1):c.1538C>G (p.Ser513Cys)	OBI1, OBI1-AS1 (S513C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203692	NM_024546.4(OBI1):c.1531T>A (p.Leu511Met)	OBI1, OBI1-AS1 (L511M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203691	NM_024546.4(OBI1):c.1421A>G (p.Tyr474Cys)	OBI1, OBI1-AS1 (Y474C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203690	NM_024546.4(OBI1):c.1339A>G (p.Ile447Val)	OBI1, OBI1-AS1 (I447V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301825	NM_024546.4(OBI1):c.1320A>C (p.Lys440Asn)	OBI1, OBI1-AS1 (K440N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203689	NM_024546.4(OBI1):c.1279G>T (p.Val427Leu)	OBI1, OBI1-AS1 (V427L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203688	NM_024546.4(OBI1):c.1250A>G (p.Lys417Arg)	OBI1, OBI1-AS1 (K417R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203687	NM_024546.4(OBI1):c.1159C>T (p.Pro387Ser)	OBI1, OBI1-AS1 (P387S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203686	NM_024546.4(OBI1):c.1143A>T (p.Glu381Asp)	OBI1, OBI1-AS1 (E381D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2608995	NM_024546.4(OBI1):c.1033T>C (p.Tyr345His)	OBI1, OBI1-AS1 (Y345H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301822	NM_024546.4(OBI1):c.968C>T (p.Thr323Ile)	OBI1, OBI1-AS1 (T323I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203715	NM_024546.4(OBI1):c.962G>A (p.Cys321Tyr)	OBI1, OBI1-AS1 (C321Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301818	NM_024546.4(OBI1):c.887A>G (p.Asp296Gly)	OBI1, OBI1-AS1 (D296G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203714	NM_024546.4(OBI1):c.851G>A (p.Gly284Asp)	OBI1, OBI1-AS1 (G284D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203712	NM_024546.4(OBI1):c.823C>T (p.Leu275Phe)	OBI1, OBI1-AS1 (L275F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203711	NM_024546.4(OBI1):c.800T>C (p.Met267Thr)	OBI1, OBI1-AS1 (M267T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203710	NM_024546.4(OBI1):c.731A>T (p.Asp244Val)	OBI1, OBI1-AS1 (D244V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2568514	NM_024546.4(OBI1):c.725G>A (p.Arg242Gln)	OBI1, OBI1-AS1 (R242Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301816	NM_024546.4(OBI1):c.692G>A (p.Arg231His)	OBI1, OBI1-AS1 (R231H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203709	NM_024546.4(OBI1):c.691C>T (p.Arg231Cys)	OBI1, OBI1-AS1 (R231C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203708	NM_024546.4(OBI1):c.688G>A (p.Glu230Lys)	OBI1, OBI1-AS1 (E230K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203707	NM_024546.4(OBI1):c.676G>T (p.Val226Leu)	OBI1, OBI1-AS1 (V226L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203706	NM_024546.4(OBI1):c.634C>G (p.Gln212Glu)	OBI1 (Q212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474089	NM_024546.4(OBI1):c.529G>A (p.Asp177Asn)	OBI1 (D177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612665	NM_024546.4(OBI1):c.508A>G (p.Ile170Val)	OBI1 (I170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556041	NM_024546.4(OBI1):c.409A>G (p.Asn137Asp)	OBI1 (N137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301817	NM_024546.4(OBI1):c.376A>T (p.Thr126Ser)	OBI1 (T126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203705	NM_024546.4(OBI1):c.373A>C (p.Lys125Gln)	OBI1 (K125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532858	NM_024546.4(OBI1):c.321G>C (p.Gln107His)	OBI1 (Q107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203704	NM_024546.4(OBI1):c.320A>G (p.Gln107Arg)	OBI1 (Q107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301819	NM_024546.4(OBI1):c.292G>C (p.Glu98Gln)	OBI1 (E98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203702	NM_024546.4(OBI1):c.257A>G (p.His86Arg)	OBI1 (H86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470009	NM_024546.4(OBI1):c.245C>A (p.Thr82Lys)	OBI1 (T82K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203701	NM_024546.4(OBI1):c.215C>A (p.Thr72Lys)	OBI1 (T72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301820	NM_024546.4(OBI1):c.77G>A (p.Arg26His)	OBI1 (R26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623104	NM_024546.4(OBI1):c.62G>C (p.Cys21Ser)	OBI1 (C21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203703	NM_024546.4(OBI1):c.26C>T (p.Thr9Ile)	OBI1 (T9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203695	NM_024546.4(OBI1):c.16C>G (p.Gln6Glu)	OBI1 (Q6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301821	NM_024546.4(OBI1):c.5C>A (p.Ala2Asp)	OBI1 (A2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1807668	GRCh37/hg19 13q31.1(chr13:79099535-80675355)x3	NDFIP2, OBI1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527784	GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831)	KCTD12, NDFIP2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic

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