Hmgb1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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25 records found for search term Hmgb1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150479245	CV1239352	single nucleotide variant	NM_002128.7(HMGB1):c.*2262G>A	not provided [RCV001652514]	benign	13	30459095	30459095	Human	5	name
150479245	CV1239352	single nucleotide variant	NM_002128.7(HMGB1):c.*2262G>A	not provided [RCV001652514]	benign	13	30459095	30459096	Human	5	name
405293906	CV3210495	single nucleotide variant	NM_002128.7(HMGB1):c.6C>G (p.Gly2=)	HMGB1-related disorder [RCV003932315]	likely benign	13	30463675	30463675	Human		name , trait , alternate_id
15199868	CV702658	variation	NM_002128.7(HMGB1):c.465= (p.Tyr155=)	not provided [RCV000957165]	benign	13	30462544	30462544	Human		name
405282795	CV3216857	single nucleotide variant	NM_002128.7(HMGB1):c.195A>G (p.Lys65=)	HMGB1-related disorder [RCV003979030]	benign	13	30463308	30463308	Human		name , trait , alternate_id
405790854	CV3266829	single nucleotide variant	NM_002128.7(HMGB1):c.26C>T (p.Pro9Leu)	Inborn genetic diseases [RCV004399652]	uncertain significance	13	30463655	30463655	Human	1	name
15153216	CV753780	single nucleotide variant	NM_002128.7(HMGB1):c.237C>T (p.Ile79=)	not provided [RCV000924019]	likely benign	13	30463266	30463266	Human		name
150477438	CV1279447	insertion	NM_002128.7(HMGB1):c.2181_2182insTTAA	not provided [RCV001714132]	benign	13	30459175	30459176	Human		name
401932595	CV2813797	single nucleotide variant	NM_002128.7(HMGB1):c.579T>C (p.Asp193=)	not provided [RCV003392190]	likely benign	13	30461426	30461426	Human		name
405272104	CV3206425	single nucleotide variant	NM_002128.7(HMGB1):c.309C>T (p.Phe103=)	HMGB1-related disorder [RCV003972032]	benign	13	30462700	30462700	Human		name , trait , alternate_id
598190333	CV3975368	single nucleotide variant	NM_002128.7(HMGB1):c.71G>C (p.Arg24Pro)	Inborn genetic diseases [RCV005354116]	uncertain significance	13	30463610	30463610	Human	1	name
596941195	CV3542442	deletion	NM_002128.7(HMGB1):c.342del (p.Gly115fs)	Neurodevelopmental disorder [RCV004797688]	uncertain significance	13	30462667	30462667	Human	1	name
155907746	CV2354490	single nucleotide variant	NM_002128.7(HMGB1):c.509C>T (p.Ala170Val)	Inborn genetic diseases [RCV002990755]	uncertain significance	13	30461496	30461496	Human	1	name
401940281	CV2832567	microsatellite	NM_002128.7(HMGB1):c.47_48del (p.Tyr16fs)	HMGB1-associated disorder [RCV003448547]	likely pathogenic	13	30463633	30463634	Human		name , trait
405790857	CV3266830	single nucleotide variant	NM_002128.7(HMGB1):c.588T>G (p.Asp196Glu)	Inborn genetic diseases [RCV004399653]	uncertain significance	13	30461417	30461417	Human	1	name
596926965	CV3536411	single nucleotide variant	NM_002128.7(HMGB1):c.466G>T (p.Glu156Ter)	Neurodevelopmental disorder [RCV004789819]	likely pathogenic	13	30462543	30462543	Human	1	name
15163221	CV725447	single nucleotide variant	NM_002128.7(HMGB1):c.541A>G (p.Ser181Gly)	not provided [RCV000881922]	likely benign	13	30461464	30461464	Human		name
597939715	CV3836515	microsatellite	NM_002128.7(HMGB1):c.220_221del (p.Glu74fs)	not provided [RCV005187536]	pathogenic	13	30463282	30463283	Human		name
150481870	CV1265691	microsatellite	NM_002128.7(HMGB1):c.406_407del (p.Thr136fs)	not provided [RCV001682687]	likely pathogenic	13	30462602	30462603	Human		name
153349239	CV1694102	deletion	NM_002128.7(HMGB1):c.581_582del (p.Glu194fs)	HMGB1-related Developmental delay and microcephaly [RCV002275631]	uncertain significance	13	30461423	30461424	Human		name , trait
156185728	CV1867207	microsatellite	NM_002128.7(HMGB1):c.556_559del (p.Glu186fs)	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia [RCV002508858]	pathogenic	13	30461446	30461449	Human		name
156185744	CV1867208	deletion	NM_002128.7(HMGB1):c.551_554del (p.Lys184fs)	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia [RCV002508859]	pathogenic	13	30461451	30461454	Human	1	name
401910099	CV2813796	microsatellite	NM_002128.7(HMGB1):c.591GGA[3] (p.Glu201del)	not provided [RCV003398341]	benign	13	30461403	30461405	Human		name
405867732	CV2842360	microsatellite	NM_002128.7(HMGB1):c.633TGA[3] (p.Asp214del)	EBV-positive nodal T- and NK-cell lymphoma [RCV004560309]	likely benign	13	30461361	30461363	Human		name
156402610	CV2361802	deletion	NM_002128.7(HMGB1):c.618_620del (p.Glu206del)	Inborn genetic diseases [RCV002657538]	uncertain significance	13	30461385	30461387	Human	1	name

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