EBPL[gene] - ClinVar

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Items: 85

	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 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	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 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	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 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 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 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 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 147435	GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1	ARL11, CAB39L +101 more	Copy number loss	See cases	GPathogenic
Select item 155510	GRCh38/hg38 13q14.2(chr13:48591738-50064488)x3	ARL11, CAB39L +50 more	Copy number gain	See cases	GUncertain significance
Select item 149851	GRCh38/hg38 13q14.2(chr13:49476783-49716109)x3	ARL11, EBPL +13 more	Copy number gain	See cases	GLikely benign
Select item 2336468	NM_032565.5(EBPL):c.529G>T (p.Val177Phe)	EBPL (V177F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3086885	NM_032565.5(EBPL):c.526T>A (p.Trp176Arg)	EBPL (W176R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3086884	NM_032565.5(EBPL):c.467A>G (p.Asn156Ser)	EBPL (N156S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3274374	NM_032565.5(EBPL):c.412G>A (p.Glu138Lys)	EBPL (E138K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2607827	NM_032565.5(EBPL):c.412G>C (p.Glu138Gln)	EBPL (E138Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3274373	NM_032565.5(EBPL):c.406G>A (p.Val136Met)	EBPL (V136M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3274371	NM_032565.5(EBPL):c.379C>T (p.Arg127Trp)	EBPL (R127W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086883	NM_032565.5(EBPL):c.359T>C (p.Ile120Thr)	EBPL (I120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274375	NM_032565.5(EBPL):c.326A>G (p.Asp109Gly)	EBPL (D109G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373557	NM_032565.5(EBPL):c.319G>T (p.Ala107Ser)	EBPL (A107S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220192	NM_032565.5(EBPL):c.319G>A (p.Ala107Thr)	EBPL (A107T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086882	NM_032565.5(EBPL):c.266C>T (p.Ala89Val)	EBPL (A89V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595259	NM_032565.5(EBPL):c.130C>T (p.Leu44Phe)	EBPL (L44F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527555	NM_032565.5(EBPL):c.124G>T (p.Gly42Trp)	EBPL (G42W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488764	NM_032565.5(EBPL):c.107A>G (p.Gln36Arg)	EBPL (Q36R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2553830	NM_032565.5(EBPL):c.79G>A (p.Ala27Thr)	EBPL (A27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274372	NM_032565.5(EBPL):c.68C>A (p.Ala23Glu)	EBPL (A23E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 1809102	GRCh37/hg19 13q14.2(chr13:49888733-50238594)x3	ARL11, CAB39L +4 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 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	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
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979371	GRCh37/hg19 13q14.2(chr13:50179353-50506923)x3	KPNA3, ARL11 +2 more	Copy number gain	not provided	GPathogenic
Select item 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 815586	GRCh37/hg19 13q14.2(chr13:50056792-50564776)x3	ARL11, DLEU2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686498	GRCh37/hg19 13q14.2(chr13:50123621-50381102)x3	ARL11, EBPL +2 more	Copy number gain	not provided	GUncertain significance
Select item 685867	GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1	DLEU2, DLEU7 +45 more	Copy number loss	not provided	GUncertain significance
Select item 565290	Single allele	ALG11, ARL11 +50 more	Deletion	Intellectual disability	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564068	GRCh37/hg19 13q14.2(chr13:48292731-50577868)x3	ARL11, CAB39L +19 more	Copy number gain	not provided	GUncertain significance
Select item 564031	GRCh37/hg19 13q14.2(chr13:49888597-50237499)x3	ARL11, CAB39L +4 more	Copy number gain	not provided	GUncertain significance
Select item 443381	GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1	ARL11, CAB39L +27 more	Copy number loss	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 85