ClinVar for Gene (Select 51131) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306114	NM_001040443.3(PHF11):c.974C>T (p.Ser325Leu)	PHF11, SETDB2-PHF11 (S286L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306113	NM_001040443.3(PHF11):c.785G>C (p.Gly262Ala)	PHF11, SETDB2-PHF11 (G223A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212067	NM_001040443.3(PHF11):c.651A>C (p.Lys217Asn)	PHF11, SETDB2-PHF11 (K178N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212066	NM_001040443.3(PHF11):c.200C>T (p.Ala67Val)	PHF11, SETDB2-PHF11 (A561V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212065	NM_001040443.3(PHF11):c.194T>C (p.Ile65Thr)	PHF11, SETDB2-PHF11 (I26T +2 more)	Single nucleotide variant (missense variant +1 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 3059533	NM_001040443.3(PHF11):c.*9G>A	PHF11, SETDB2-PHF11	Single nucleotide variant (3 prime UTR variant +1 more)	PHF11-related disorder	GBenign
Select item 3059044	NM_001040443.3(PHF11):c.171A>G (p.Leu57=)	PHF11, SETDB2-PHF11	Single nucleotide variant (synonymous variant +1 more)	PHF11-related disorder	GBenign
Select item 3052776	NM_001040443.3(PHF11):c.459-26_459-2dup	PHF11, SETDB2-PHF11	Duplication (splice acceptor variant)	PHF11-related disorder	GLikely benign
Select item 3043542	NM_001040443.3(PHF11):c.420C>T (p.Asp140=)	PHF11, SETDB2-PHF11	Single nucleotide variant (synonymous variant +1 more)	PHF11-related disorder	GLikely benign
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 2975967	NM_001040443.3(PHF11):c.94+14GGGC[4]	LOC130009778, PHF11 +1 more	Microsatellite (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2592588	NM_001040443.3(PHF11):c.814G>A (p.Glu272Lys)	PHF11, SETDB2-PHF11 (E233K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549949	NM_001040443.3(PHF11):c.297G>T (p.Lys99Asn)	PHF11, SETDB2-PHF11 (K60N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484498	NM_001040443.3(PHF11):c.254A>T (p.Asp85Val)	PHF11, SETDB2-PHF11 (D85V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482639	NM_001040443.3(PHF11):c.577G>A (p.Glu193Lys)	PHF11, SETDB2-PHF11 (E154K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468793	NM_001040443.3(PHF11):c.973T>A (p.Ser325Thr)	PHF11, SETDB2-PHF11 (S286T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454536	NM_001040443.3(PHF11):c.118A>G (p.Met40Val)	PHF11, SETDB2-PHF11 (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407306	NM_001040443.3(PHF11):c.500A>C (p.Gln167Pro)	PHF11, SETDB2-PHF11 (Q167P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316924	NM_001040443.3(PHF11):c.123A>T (p.Glu41Asp)	PHF11, SETDB2-PHF11 (E2D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276446	NM_001040443.3(PHF11):c.694T>A (p.Tyr232Asn)	PHF11, SETDB2-PHF11 (Y193N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268700	NM_001040443.3(PHF11):c.784G>A (p.Gly262Arg)	PHF11, SETDB2-PHF11 (G223R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258929	NM_001040443.3(PHF11):c.275G>A (p.Ser92Asn)	PHF11, SETDB2-PHF11 (S586N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2232914	NM_001040443.3(PHF11):c.547C>T (p.Pro183Ser)	PHF11, SETDB2-PHF11 (P677S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227922	NM_001040443.3(PHF11):c.547C>A (p.Pro183Thr)	PHF11, SETDB2-PHF11 (P677T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215104	NM_001040443.3(PHF11):c.934T>C (p.Ser312Pro)	PHF11, SETDB2-PHF11 (S273P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 564031	GRCh37/hg19 13q14.2(chr13:49888597-50237499)x3	ARL11, CAB39L +4 more	Copy number gain	not provided	GUncertain significance
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
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
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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	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 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 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 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 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 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 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 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 149851	GRCh38/hg38 13q14.2(chr13:49476783-49716109)x3	ARL11, EBPL +13 more	Copy number gain	See cases	GLikely benign
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 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	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 147435	GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1	ARL11, CAB39L +101 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 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	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 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 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 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 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 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 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 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 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 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 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 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	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 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	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

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Links from Gene

Items: 89