4983[HGNC] - ClinVar

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

Search results

Items: 64

	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 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 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 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 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 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 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 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +202 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +210 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	ALOX5AP, B3GLCT +117 more	Copy number loss	See cases	GPathogenic
Select item 1338830	GRCh38/hg38 13q12.3(chr13:30194283-31591879)	ALOX5AP, B3GLCT +50 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +213 more	Copy number loss	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 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	ALOX5AP, 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	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 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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	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 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	DGKH, DHRS12 +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	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	PARP4, PCOTH +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)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64