ClinVar for Gene (Select 9358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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	SLC15A1, SOX21 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +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	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
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 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
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 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 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 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 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 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 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	ITGBL1, NALCN +13 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 2422806	NC_000013.10:g.(?_100038233)_(103718599_?)dup	POGLUT2, SLC10A2 +18 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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	CCDC169-SOHLH2, CCDC70 +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)	PCID2, PCOTH +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)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1070863	NC_000013.10:g.(?_102029051)_(103054028_?)del	FGF14, ITGBL1 +1 more	Deletion	not provided	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
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 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	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 726377	NM_004791.3(ITGBL1):c.303G>C (p.Gly101=)	ITGBL1	Single nucleotide variant (synonymous variant +1 more)	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 710030	NM_004791.3(ITGBL1):c.1202C>T (p.Pro401Leu)	ITGBL1 (P401L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687256	GRCh37/hg19 13q33.1(chr13:102302763-102527138)x3	FGF14, ITGBL1	Copy number gain	not provided	GUncertain significance
Select item 687082	GRCh37/hg19 13q33.1(chr13:102139098-102392931)x1	FGF14, ITGBL1	Copy number loss	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 564045	GRCh37/hg19 13q33.1(chr13:101956482-102666953)x1	FGF14, ITGBL1 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 443022	GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3	BIVM, BIVM-ERCC5 +26 more	Copy number gain	See cases	GLikely pathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	ABCC4, ABHD13 +97 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	DNAJC3, DOCK9 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 441737	GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1	ABCC4, ARGLU1 +58 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	CDC16, COMMD6 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	ABCC4, ABHD13 +102 more	Copy number loss	See cases	GPathogenic

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