ClinVar for Gene (Select 1102) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313409	NM_001268.4(RCBTB2):c.1258C>T (p.Arg420Cys)	RCBTB2 (R396C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313408	NM_001268.4(RCBTB2):c.1202A>T (p.Asp401Val)	RCBTB2 (D401V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313407	NM_001268.4(RCBTB2):c.847G>A (p.Ala283Thr)	RCBTB2 (A287T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313406	NM_001268.4(RCBTB2):c.645G>A (p.Met215Ile)	RCBTB2 (M191I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313405	NM_001268.4(RCBTB2):c.344C>T (p.Thr115Ile)	RCBTB2 (T115I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152685	NM_001268.4(RCBTB2):c.922G>A (p.Asp308Asn)	RCBTB2 (D313N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152684	NM_001268.4(RCBTB2):c.1259G>A (p.Arg420His)	RCBTB2 (R396H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152682	NM_001268.4(RCBTB2):c.1148C>T (p.Ser383Leu)	RCBTB2 (S109L +4 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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2614165	NM_001268.4(RCBTB2):c.845G>C (p.Gly282Ala)	RCBTB2 (G286A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611964	NM_001268.4(RCBTB2):c.1336G>A (p.Glu446Lys)	RCBTB2 (E172K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605720	NM_001268.4(RCBTB2):c.1565T>A (p.Val522Glu)	RCBTB2 (V522E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592825	NM_001268.4(RCBTB2):c.269G>A (p.Arg90Gln)	RCBTB2 (R66Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589787	NM_001268.4(RCBTB2):c.775G>A (p.Val259Ile)	RCBTB2 (V235I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530796	NM_001268.4(RCBTB2):c.1324C>T (p.Arg442Trp)	RCBTB2 (R168W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475872	NM_001268.4(RCBTB2):c.889C>A (p.Gln297Lys)	RCBTB2 (Q297K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455967	NM_001268.4(RCBTB2):c.247G>A (p.Val83Ile)	RCBTB2 (V59I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2424780	NC_000013.10:g.(?_48517506)_(49070513_?)dup	ITM2B, LPAR6 +5 more	Duplication	not provided	GUncertain significance
Select item 2398997	NM_001268.4(RCBTB2):c.1085C>T (p.Thr362Met)	RCBTB2 (T367M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376212	NM_001268.4(RCBTB2):c.193G>A (p.Asp65Asn)	RCBTB2 (D41N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374651	NM_001268.4(RCBTB2):c.1480G>A (p.Ala494Thr)	RCBTB2 (A220T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367936	NM_001268.4(RCBTB2):c.1013G>A (p.Arg338Gln)	RCBTB2 (R342Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349010	NM_001268.4(RCBTB2):c.142G>C (p.Ala48Pro)	RCBTB2 (A24P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347696	NM_001268.4(RCBTB2):c.1093G>A (p.Val365Ile)	RCBTB2 (V341I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332078	NM_001268.4(RCBTB2):c.1580G>A (p.Gly527Asp)	RCBTB2 (G253D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318707	NM_001268.4(RCBTB2):c.631G>A (p.Ala211Thr)	RCBTB2 (A187T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309417	NM_001268.4(RCBTB2):c.1457G>C (p.Gly486Ala)	RCBTB2 (G462A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301862	NM_001268.4(RCBTB2):c.1262C>T (p.Ser421Leu)	RCBTB2 (S421L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299563	NM_001268.4(RCBTB2):c.1378G>A (p.Ala460Thr)	RCBTB2 (A460T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282784	NM_001268.4(RCBTB2):c.72G>C (p.Lys24Asn)	RCBTB2 (K29N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271655	NM_001268.4(RCBTB2):c.1315C>G (p.Pro439Ala)	RCBTB2 (P444A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265885	NM_001268.4(RCBTB2):c.1066G>A (p.Val356Met)	RCBTB2 (V332M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243174	NM_001268.4(RCBTB2):c.1062C>G (p.Asp354Glu)	RCBTB2 (D358E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223223	NM_001268.4(RCBTB2):c.377A>G (p.Asn126Ser)	RCBTB2 (N131S +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2213271	NM_001268.4(RCBTB2):c.1345T>C (p.Tyr449His)	RCBTB2 (Y425H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203816	NM_001268.4(RCBTB2):c.98T>C (p.Ile33Thr)	RCBTB2 (I33T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 1457430	NC_000013.10:g.(?_48517506)_(49070513_?)del	ITM2B, LPAR6 +5 more	Deletion	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	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 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 685575	GRCh37/hg19 13q14.2(chr13:48817328-49333400)x1	CYSLTR2, ITM2B +3 more	Copy number loss	not provided	GPathogenic
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 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 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 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	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 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: 96