ClinVar for Gene (Select 55270) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341618	NM_018283.4(NUDT15):c.25G>T (p.Gly9Trp)	NUDT15 (G9W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3244222	NC_000013.10:g.(?_48570958)_(48830539_?)del	ITM2B, MED4 +2 more	Deletion	not provided	GUncertain significance
Select item 3244122	NC_000013.10:g.(?_48517506)_(49039524_?)del	ITM2B, LPAR6 +4 more	Deletion	Retinoblastoma	GPathogenic
Select item 3244121	NC_000013.10:g.(?_48611883)_(48955589_?)del	ITM2B, MED4 +2 more	Deletion	Retinoblastoma	GPathogenic
Select item 3234192	NM_018283.4(NUDT15):c.36A>C (p.Pro12=)	NUDT15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3055414	NM_018283.4(NUDT15):c.*7G>A	NUDT15	Single nucleotide variant (3 prime UTR variant +1 more)	NUDT15-related disorder	GBenign
Select item 3041752	NM_018283.4(NUDT15):c.123C>A (p.Gly41=)	NUDT15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	EPSTI1, ERICH6B +119 more	Copy number loss	not provided	GPathogenic
Select item 2643811	NM_018283.4(NUDT15):c.38GAGTCG[2] (p.13GV[2])	NUDT15	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2643810	NM_018283.4(NUDT15):c.9C>T (p.Ala3=)	NUDT15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2542164	NM_018283.4(NUDT15):c.74A>C (p.His25Pro)	NUDT15 (H25P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482427	NM_018283.4(NUDT15):c.77C>A (p.Pro26Gln)	NUDT15 (P26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481595	NM_018283.4(NUDT15):c.187G>A (p.Glu63Lys)	NUDT15 (E63K)	Single nucleotide variant (missense variant +1 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 2422873	NC_000013.10:g.(?_48615046)_(48930735_?)del	ITM2B, MED4 +2 more	Deletion	Retinoblastoma	GUncertain significance
Select item 2390489	NM_018283.4(NUDT15):c.112G>C (p.Val38Leu)	NUDT15 (V38L)	Single nucleotide variant (missense variant +1 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 1459011	NC_000013.10:g.(?_48611883)_(48878195_?)del	ITM2B, MED4 +2 more	Deletion	Retinoblastoma	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 1074926	NC_000013.10:g.(?_48611883)_(48939117_?)del	ITM2B, MED4 +2 more	Deletion	Retinoblastoma	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 1046310	NC_000013.10:g.(?_48611883)_(49054207_?)dup	MED4, NUDT15 +3 more	Duplication	Retinoblastoma	GUncertain significance
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 832661	NC_000013.11:g.(?_48040910)_(48480071_?)del	ITM2B, LPAR6 +3 more	Deletion	Retinoblastoma	GPathogenic
Select item 830876	NC_000013.11:g.(?_48037747)_(48480071_?)del	ITM2B, LPAR6 +3 more	Deletion	Retinoblastoma	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	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 225204	NM_018283.4(NUDT15):c.38GAGTCG[4] (p.13GV[4])	NUDT15	Microsatellite (inframe_insertion +1 more)	Thiopurines, poor metabolism of, 2 +1 more	GLikely benign; drug response
Select item 225203	NM_018283.4(NUDT15):c.52G>A (p.Val18Ile)	NUDT15 (V18I)	Single nucleotide variant (missense variant +1 more)	NUDT15-related disorder +1 more	GLikely benign; drug response
Select item 225202	NM_018283.4(NUDT15):c.416G>A (p.Arg139His)	NUDT15 (R139H)	Single nucleotide variant (missense variant +1 more)	Thiopurines, poor metabolism of, 2	Gdrug response
Select item 225201	NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys)	NUDT15 (R139C)	Single nucleotide variant (missense variant +1 more)	azathioprine response - Toxicity +1 more	Gdrug response
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 83