HMGB1[gene] - 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 58144	GRCh38/hg38 13q12.3(chr13:30336888-30830135)x1	ALOX5AP, HMGB1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 1250264	NM_002128.7(HMGB1):c.*2262G>A	HMGB1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1289616	NM_002128.7(HMGB1):c.2181_2182insTTAA	HMGB1	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 2681315	NM_002128.7(HMGB1):c.633TGA[3] (p.Asp214del)	HMGB1 (D214del)	Microsatellite (inframe_deletion +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2380914	NM_002128.7(HMGB1):c.618_620del (p.Glu206del)	HMGB1 (E206del)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643710	NM_002128.7(HMGB1):c.591GGA[3] (p.Glu201del)	HMGB1 (E201del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 3106263	NM_002128.7(HMGB1):c.588T>G (p.Asp196Glu)	HMGB1 (D196E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1701712	NM_002128.7(HMGB1):c.581_582del (p.Glu194fs)	HMGB1 (E194fs)	Deletion (frameshift variant +1 more)	HMGB1-related Developmental delay and microcephaly	GUncertain significance
Select item 2643711	NM_002128.7(HMGB1):c.579T>C (p.Asp193=)	HMGB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1810205	NM_002128.7(HMGB1):c.556_559del (p.Glu186fs)	HMGB1 (E186fs)	Microsatellite (frameshift variant +1 more)	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	GPathogenic
Select item 1810206	NM_002128.7(HMGB1):c.551_554del (p.Lys184fs)	HMGB1 (K184fs)	Deletion (frameshift variant +1 more)	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	GPathogenic
Select item 710363	NM_002128.7(HMGB1):c.541A>G (p.Ser181Gly)	HMGB1 (S181G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2366979	NM_002128.7(HMGB1):c.509C>T (p.Ala170Val)	HMGB1 (A170V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776790	NM_002128.7(HMGB1):c.465= (p.Tyr155=)	HMGB1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 1275810	NM_002128.7(HMGB1):c.406_407del (p.Thr136fs)	HMGB1 (T136fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3055268	NM_002128.7(HMGB1):c.309C>T (p.Phe103=)	HMGB1	Single nucleotide variant (synonymous variant)	HMGB1-related disorder	GBenign
Select item 747322	NM_002128.7(HMGB1):c.237C>T (p.Ile79=)	HMGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056340	NM_002128.7(HMGB1):c.195A>G (p.Lys65=)	HMGB1	Single nucleotide variant (synonymous variant)	HMGB1-related disorder	GBenign
Select item 2664997	NM_002128.7(HMGB1):c.47_48del (p.Tyr16fs)	HMGB1 (Y16fs)	Microsatellite (frameshift variant)	HMGB1-associated disorder	GLikely pathogenic
Select item 3106262	NM_002128.7(HMGB1):c.26C>T (p.Pro9Leu)	HMGB1 (P9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042000	NM_002128.7(HMGB1):c.6C>G (p.Gly2=)	HMGB1	Single nucleotide variant (synonymous variant)	HMGB1-related disorder	GLikely benign
Select item 3244203	NC_000013.10:g.(?_30999468)_(31204468_?)del	HMGB1, USPL1	Deletion	not provided	GPathogenic
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 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 1209857	GRCh37/hg19 13q12.2-12.3(chr13:28669064-31367407)x1	ALOX5AP, FLT1 +11 more	Copy number loss	13q12.2q12.3 deletion	GLikely pathogenic
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 810673	NC_000013.11:g.30435737_30695813del	HMGB1, USPL1	Deletion	13q12.3 microdeletion	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 443537	GRCh37/hg19 13q12.3(chr13:30841652-31177774)x1	HMGB1, KATNAL1 +1 more	Copy number loss	See cases	GLikely pathogenic
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