ClinVar for MedGen (Select 1802657) - ClinVar - NCBI

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Items: 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16994381.	NM_024817.3(THSD4):c.2443C>T (p.Arg815Trp) GRCh37: Chr15:72050268 GRCh38: Chr15:71757929	THSD4	R455W, R815W	Inborn genetic diseases, Aortic aneurysm, familial thoracic 12	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16991752.	NM_024817.3(THSD4):c.650A>G (p.Gln217Arg) GRCh37: Chr15:71535173 GRCh38: Chr15:71242834	THSD4	Q217R	Aortic aneurysm, familial thoracic 12	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 16752253.	NM_024817.3(THSD4):c.961T>A (p.Tyr321Asn) GRCh37: Chr15:71549000 GRCh38: Chr15:71256661	THSD4	Y321N	Aortic aneurysm, familial thoracic 12	Pathogenic (Apr 5, 2022)	no assertion criteria provided
Select item 16752244.	NM_024817.3(THSD4):c.137_145dup (p.Asp46_Gly48dup) GRCh37: Chr15:71507409-71507410 GRCh38: Chr15:71215070-71215071	THSD4		Aortic aneurysm, familial thoracic 12	Pathogenic (Apr 5, 2022)	no assertion criteria provided
Select item 16752235.	NM_024817.3(THSD4):c.1402del (p.Ala468fs) GRCh37: Chr15:72020930 GRCh38: Chr15:71728591	THSD4	A108fs, A468fs	Aortic aneurysm, familial thoracic 12	Pathogenic (Apr 5, 2022)	no assertion criteria provided
Select item 16752226.	NM_024817.3(THSD4):c.2341C>T (p.Arg781Trp) GRCh37: Chr15:72040859 GRCh38: Chr15:71748520	THSD4	R781W, R421W	Aortic aneurysm, familial thoracic 12	Pathogenic (Apr 5, 2022)	no assertion criteria provided
Select item 16752217.	NM_024817.3(THSD4):c.740del (p.Pro246_Leu247insTer) GRCh37: Chr15:71535261 GRCh38: Chr15:71242922	THSD4		Aortic aneurysm, familial thoracic 12	Pathogenic (Apr 5, 2022)	no assertion criteria provided