ITGBL1[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 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 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 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	LOC124946325, LOC124946326 +271 more	Copy number loss	See cases	GPathogenic
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	BIVM, BIVM-ERCC5 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 58280	GRCh38/hg38 13q32.3-33.1(chr13:101049614-101636191)x3	ITGBL1, LOC121468006 +6 more	Copy number gain	See cases	GUncertain significance
Select item 150092	GRCh38/hg38 13q32.3-33.2(chr13:101095590-105074548)x1	BIVM, BIVM-ERCC5 +40 more	Copy number loss	See cases	GPathogenic
Select item 58179	GRCh38/hg38 13q33.1(chr13:101387742-101636191)x1	ITGBL1, LOC121468006 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2325031	NM_004791.3(ITGBL1):c.41C>T (p.Ser14Phe)	ITGBL1 (S14F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376037	NM_004791.3(ITGBL1):c.148C>G (p.Arg50Gly)	ITGBL1 (R50G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286880	NM_004791.3(ITGBL1):c.157G>C (p.Ala53Pro)	ITGBL1 (A53P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298961	NM_004791.3(ITGBL1):c.181G>A (p.Ala61Thr)	ITGBL1 (A61T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111540	NM_004791.3(ITGBL1):c.191A>G (p.His64Arg)	ITGBL1 (H64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457078	NM_004791.3(ITGBL1):c.194G>A (p.Gly65Asp)	ITGBL1 (G65D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463687	NM_004791.3(ITGBL1):c.196C>T (p.Arg66Trp)	ITGBL1 (R66W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464193	NM_004791.3(ITGBL1):c.197G>T (p.Arg66Leu)	ITGBL1 (R66L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726377	NM_004791.3(ITGBL1):c.303G>C (p.Gly101=)	ITGBL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 790681	NM_004791.3(ITGBL1):c.317G>A (p.Gly106Asp)	ITGBL1 (G106D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3111541	NM_004791.3(ITGBL1):c.388A>G (p.Thr130Ala)	ITGBL1 (T130A +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2489466	NM_004791.3(ITGBL1):c.408G>T (p.Lys136Asn)	ITGBL1 (K136N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2509263	NM_004791.3(ITGBL1):c.445A>T (p.Ile149Phe)	ITGBL1 (I56F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111543	NM_004791.3(ITGBL1):c.596A>G (p.Lys199Arg)	ITGBL1 (K150R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515218	NM_004791.3(ITGBL1):c.597G>T (p.Lys199Asn)	ITGBL1 (K106N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277455	NM_004791.3(ITGBL1):c.665T>A (p.Ile222Asn)	ITGBL1 (I173N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286878	NM_004791.3(ITGBL1):c.686G>A (p.Arg229Gln)	ITGBL1 (R229Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111544	NM_004791.3(ITGBL1):c.743G>A (p.Gly248Asp)	ITGBL1 (G248D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334367	NM_004791.3(ITGBL1):c.785G>A (p.Gly262Glu)	ITGBL1 (G213E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242908	NM_004791.3(ITGBL1):c.821G>A (p.Arg274Lys)	ITGBL1 (R133K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286877	NM_004791.3(ITGBL1):c.905A>G (p.Lys302Arg)	ITGBL1 (K253R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289191	NM_004791.3(ITGBL1):c.927G>C (p.Lys309Asn)	ITGBL1 (K260N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389535	NM_004791.3(ITGBL1):c.1046A>G (p.Tyr349Cys)	ITGBL1 (Y256C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111535	NM_004791.3(ITGBL1):c.1063C>T (p.Arg355Trp)	ITGBL1 (R306W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286879	NM_004791.3(ITGBL1):c.1097G>A (p.Arg366His)	ITGBL1 (R273H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111536	NM_004791.3(ITGBL1):c.1100G>A (p.Arg367His)	ITGBL1 (R367H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377278	NM_004791.3(ITGBL1):c.1138G>A (p.Gly380Ser)	ITGBL1 (G380S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710030	NM_004791.3(ITGBL1):c.1202C>T (p.Pro401Leu)	ITGBL1 (P401L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723800	NM_004791.3(ITGBL1):c.1203G>A (p.Pro401=)	ITGBL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3111537	NM_004791.3(ITGBL1):c.1204C>T (p.Arg402Trp)	ITGBL1 (R261W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283036	NM_004791.3(ITGBL1):c.1205G>A (p.Arg402Gln)	ITGBL1 (R309Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390437	NM_004791.3(ITGBL1):c.1220C>T (p.Thr407Met)	ITGBL1 (T358M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357053	NM_004791.3(ITGBL1):c.1271C>T (p.Ser424Leu)	ITGBL1 (S283L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340992	NM_004791.3(ITGBL1):c.1301G>A (p.Cys434Tyr)	FGF14, ITGBL1 (C293Y +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2607298	NM_004791.3(ITGBL1):c.1366G>A (p.Asp456Asn)	FGF14, ITGBL1 (D407N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3111539	NM_004791.3(ITGBL1):c.1456G>C (p.Glu486Gln)	FGF14, ITGBL1 (E345Q +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 873432	NM_004115.4(FGF14):c.652G>T (p.Val218Phe)	ITGBL1, FGF14 (V223F +8 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	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 3024582	GRCh37/hg19 13q33.1(chr13:102105185-102379160)x1	FGF14, ITGBL1	Copy number loss	not provided	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	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 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2425688	NC_000013.10:g.(?_99336978)_(102379160_?)del	CLYBL, DOCK9 +13 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 2422806	NC_000013.10:g.(?_100038233)_(103718599_?)dup	BIVM, BIVM-ERCC5 +18 more	Duplication	not provided	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808473	GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)x1	ABHD13, ARGLU1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 more	Copy number loss	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 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1704304	GRCh37/hg19 13q33.1(chr13:102250764-102412039)x1	FGF14, ITGBL1	Copy number loss	Spinocerebellar ataxia type 27	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 1527795	GRCh37/hg19 13q33.1(chr13:102206035-102268797)	ITGBL1	Copy number loss	not specified	GUncertain significance
Select item 1527794	GRCh37/hg19 13q33.1(chr13:102179717-102322729)	ITGBL1	Copy number loss	not specified	GUncertain significance
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic

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