3356[geneid] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	ACOD1, AKAP11 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	AKAP11, ALG11 +780 more	Copy number loss	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 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	LINC00434, LINC00437 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	AKAP11, ALG11 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	AKAP11, ALG11 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	AKAP11, ARL11 +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	LOC130009906, LOC130009907 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LINC00561, LINC00562 +729 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	ARL11, CAB39L +215 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	ACOD1, ALG11 +657 more	Copy number loss	See cases	GPathogenic
Select item 778992	NM_000621.5(HTR2A):c.1340C>T (p.Ala447Val)	HTR2A (A447V +1 more)	Single nucleotide variant (missense variant)	HTR2A-related disorder +1 more	GLikely benign
Select item 2241051	NM_000621.5(HTR2A):c.1339G>A (p.Ala447Thr)	HTR2A (A447T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 763882	NM_000621.5(HTR2A):c.1260G>A (p.Lys420=)	HTR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727046	NM_000621.5(HTR2A):c.1098T>C (p.Val366=)	HTR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107500	NM_000621.5(HTR2A):c.937C>A (p.Gln313Lys)	HTR2A (Q313K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107499	NM_000621.5(HTR2A):c.934A>G (p.Met312Val)	HTR2A (M149V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 765602	NM_000621.5(HTR2A):c.744C>T (p.Thr248=)	HTR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723564	NM_000621.5(HTR2A):c.687C>T (p.Leu229=)	HTR2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712185	NM_000621.5(HTR2A):c.657G>A (p.Ser219=)	HTR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 226025	NM_000621.5(HTR2A):c.614-2211T>C	HTR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2269257	NM_000621.5(HTR2A):c.554G>A (p.Arg185His)	HTR2A (R185H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643809	NM_000621.5(HTR2A):c.471C>G (p.Leu157=)	HTR2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2223959	NM_000621.5(HTR2A):c.419G>A (p.Arg140Gln)	HTR2A (R140Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107497	NM_000621.5(HTR2A):c.414G>A (p.Gly138=)	HTR2A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1678363	NM_000621.5(HTR2A):c.412+1G>C	HTR2A	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 3107496	NM_000621.5(HTR2A):c.228G>T (p.Trp76Cys)	HTR2A (W76C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736153	NM_000621.5(HTR2A):c.186A>C (p.Ser62=)	HTR2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2543635	NM_000621.5(HTR2A):c.127T>G (p.Phe43Val)	HTR2A (F43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 515935	NM_000621.5(HTR2A):c.102= (p.Ser34=)	HTR2A	Single nucleotide variant (no sequence alteration +1 more)	not specified	GBenign
Select item 511089	NM_000621.5(HTR2A):c.102C>T (p.Ser34=)	HTR2A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3107498	NM_000621.5(HTR2A):c.86G>C (p.Ser29Thr)	HTR2A (S29T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731446	NM_000621.5(HTR2A):c.51C>T (p.Ser17=)	HTR2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2477578	NM_000621.5(HTR2A):c.7A>T (p.Ile3Phe)	HTR2A (I3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 511090	NM_001378924.1(HTR2A):c.-329+609G>A	HTR2A	Single nucleotide variant (intron variant)	not specified	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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	AKAP11, ALG11 +119 more	Copy number loss	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +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)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ALG11, ARL11 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +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 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 564037	GRCh37/hg19 13q14.13-14.2(chr13:47150042-47597888)x3	LRCH1, HTR2A +1 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)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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Items: 78