25926[HGNC] - ClinVar

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Items: 64

	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 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 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 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 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 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 1338830	GRCh38/hg38 13q12.3(chr13:30194283-31591879)	ALOX5AP, B3GLCT +51 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	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 3125094	NM_032849.4(MEDAG):c.38G>A (p.Ser13Asn)	MEDAG, TEX26-AS1 (S13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385503	NM_032849.4(MEDAG):c.73C>A (p.Leu25Met)	MEDAG, TEX26-AS1 (L25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125091	NM_032849.4(MEDAG):c.191C>G (p.Ala64Gly)	MEDAG, TEX26-AS1 (A64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125092	NM_032849.4(MEDAG):c.225C>A (p.Asp75Glu)	MEDAG, TEX26-AS1 (D75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294083	NM_032849.4(MEDAG):c.226G>T (p.Gly76Cys)	MEDAG, TEX26-AS1 (G76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515072	NM_032849.4(MEDAG):c.233T>A (p.Val78Glu)	MEDAG, TEX26-AS1 (V78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602840	NM_032849.4(MEDAG):c.244G>A (p.Gly82Arg)	MEDAG, TEX26-AS1 (G82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125093	NM_032849.4(MEDAG):c.304G>T (p.Asp102Tyr)	MEDAG, TEX26-AS1 (D102Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125095	NM_032849.4(MEDAG):c.395C>A (p.Thr132Lys)	MEDAG, TEX26-AS1 (T132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643712	NM_032849.4(MEDAG):c.396G>A (p.Thr132=)	MEDAG, TEX26-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3125096	NM_032849.4(MEDAG):c.400G>A (p.Ala134Thr)	MEDAG, TEX26-AS1 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125098	NM_032849.4(MEDAG):c.401C>T (p.Ala134Val)	MEDAG, TEX26-AS1 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292450	NM_032849.4(MEDAG):c.413A>T (p.Asn138Ile)	MEDAG, TEX26-AS1 (N138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257539	NM_032849.4(MEDAG):c.479T>C (p.Ile160Thr)	MEDAG, TEX26-AS1 (I160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569955	NM_032849.4(MEDAG):c.577G>T (p.Ala193Ser)	MEDAG, TEX26-AS1 (A193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125099	NM_032849.4(MEDAG):c.622T>C (p.Phe208Leu)	MEDAG, TEX26-AS1 (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125100	NM_032849.4(MEDAG):c.640G>A (p.Val214Ile)	MEDAG, TEX26-AS1 (V214I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226170	NM_032849.4(MEDAG):c.650T>C (p.Val217Ala)	MEDAG, TEX26-AS1 (V217A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125101	NM_032849.4(MEDAG):c.686C>T (p.Pro229Leu)	MEDAG, TEX26-AS1 (P229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223503	NM_032849.4(MEDAG):c.733C>G (p.Pro245Ala)	MEDAG, TEX26-AS1 (P245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370667	NM_032849.4(MEDAG):c.750C>A (p.Ser250Arg)	MEDAG, TEX26-AS1 (S250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294081	NM_032849.4(MEDAG):c.811T>C (p.Cys271Arg)	MEDAG, TEX26-AS1 (C271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3024580	GRCh37/hg19 13q12.3-13.1(chr13:29933399-32792968)x3	ALOX5AP, B3GLCT +12 more	Copy number gain	not provided	GUncertain significance
Select item 2425229	NC_000013.10:g.(?_31033232)_(33638323_?)dup	ALOX5AP, B3GLCT +13 more	Duplication	not provided	GUncertain significance
Select item 1807673	GRCh37/hg19 13q12.3(chr13:31267070-31483281)x3	ALOX5AP, MEDAG	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 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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	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 1180526	GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1	ALOX5AP, B3GLCT +22 more	Copy number loss	not provided	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815579	GRCh37/hg19 13q12.3(chr13:31498706-31566543)x1	TEX26, MEDAG	Copy number loss	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 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	CDK8, CDX2 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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

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Items: 64