83852[Gene ID] - ClinVar

Search results

Items: 95

	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 2205069	NM_001160308.3(SETDB2):c.184A>T (p.Ile62Phe)	SETDB2, SETDB2-PHF11 (I50F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160705	NM_001160308.3(SETDB2):c.260C>T (p.Pro87Leu)	SETDB2, SETDB2-PHF11 (P75L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768617	NM_001160308.3(SETDB2):c.261C>T (p.Pro87=)	SETDB2, SETDB2-PHF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2548727	NM_001160308.3(SETDB2):c.332C>T (p.Ser111Phe)	SETDB2, SETDB2-PHF11 (S123F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643816	NM_001160308.3(SETDB2):c.372A>C (p.Ser124=)	SETDB2, SETDB2-PHF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2242626	NM_001160308.3(SETDB2):c.454C>A (p.Pro152Thr)	SETDB2, SETDB2-PHF11 (P164T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379960	NM_001160308.3(SETDB2):c.568G>A (p.Val190Met)	SETDB2, SETDB2-PHF11 (V190M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2519062	NM_001160308.3(SETDB2):c.608A>G (p.Asn203Ser)	SETDB2, SETDB2-PHF11 (N191S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2484188	NM_001160308.3(SETDB2):c.694G>T (p.Val232Leu)	SETDB2, SETDB2-PHF11 (V244L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537201	NM_001160308.3(SETDB2):c.717A>T (p.Glu239Asp)	SETDB2, SETDB2-PHF11 (E251D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160706	NM_001160308.3(SETDB2):c.831T>G (p.Phe277Leu)	SETDB2, SETDB2-PHF11 (F289L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213201	NM_001160308.3(SETDB2):c.970A>G (p.Arg324Gly)	SETDB2, SETDB2-PHF11 (R324G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274280	NM_001160308.3(SETDB2):c.1007T>C (p.Leu336Ser)	SETDB2, SETDB2-PHF11 (L324S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160702	NM_001160308.3(SETDB2):c.1052A>G (p.His351Arg)	SETDB2, SETDB2-PHF11 (H363R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786240	NM_001160308.3(SETDB2):c.1187A>T (p.Lys396Ile)	SETDB2, SETDB2-PHF11 (K408I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 791038	NM_001160308.3(SETDB2):c.1210G>A (p.Gly404Arg)	SETDB2, SETDB2-PHF11 (G404R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3317759	NM_001160308.3(SETDB2):c.1341A>T (p.Lys447Asn)	SETDB2, SETDB2-PHF11 (K447N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270231	NM_001160308.3(SETDB2):c.1359T>G (p.Ser453Arg)	SETDB2, SETDB2-PHF11 (S465R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160703	NM_001160308.3(SETDB2):c.1474A>G (p.Lys492Glu)	SETDB2, SETDB2-PHF11 (K504E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311273	NM_001160308.3(SETDB2):c.1501T>A (p.Ser501Thr)	SETDB2, SETDB2-PHF11 (S489T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321240	NM_001160308.3(SETDB2):c.1502C>G (p.Ser501Cys)	SETDB2, SETDB2-PHF11 (S501C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511084	NM_001160308.3(SETDB2):c.1564A>G (p.Lys522Glu)	SETDB2, SETDB2-PHF11 (K522E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317758	NM_001160308.3(SETDB2):c.1592A>G (p.Asn531Ser)	SETDB2, SETDB2-PHF11 (N543S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603051	NM_001160308.3(SETDB2):c.1828A>G (p.Thr610Ala)	SETDB2, SETDB2-PHF11 (T598A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317760	NM_001160308.3(SETDB2):c.1973G>C (p.Arg658Thr)	SETDB2, SETDB2-PHF11 (R646T +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2205070	NM_001160308.3(SETDB2):c.1975A>G (p.Asn659Asp)	SETDB2, SETDB2-PHF11 (N647D +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 774906	NM_001160308.3(SETDB2):c.2006+6A>C	SETDB2-PHF11, SETDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3317757	NM_001160308.3(SETDB2):c.2105G>A (p.Cys702Tyr)	SETDB2, SETDB2-PHF11 (C690Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	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	CCDC70, CCNA1 +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 1527774	GRCh37/hg19 13q14.2(chr13:49947433-50049040)	CAB39L, SETDB2	Copy number loss	not specified	GUncertain significance
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 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 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 564036	GRCh37/hg19 13q14.2(chr13:49638092-50045664)x3	CDADC1, MLNR +3 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 95