ClinVar for MedGen (Select 895965) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26640051.	NM_002775.5(HTRA1):c.1127C>T (p.Ala376Val) GRCh37: Chr10:124269618 GRCh38: Chr10:122510102	HTRA1	A376V	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Uncertain significance (Nov 24, 2023)	no assertion criteria provided
Select item 18013722.	NM_002775.5(HTRA1):c.175_178del (p.Arg59fs) GRCh37: Chr10:124221343-124221346 GRCh38: Chr10:122461827-122461830	ARMS2, HTRA1	R59fs	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Pathogenic (Dec 2, 2022)	criteria provided, single submitter
Select item 17099683.	NM_002775.5(HTRA1):c.671del (p.Asn224fs) GRCh37: Chr10:124249035 GRCh38: Chr10:122489519	HTRA1	N224fs	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic (Sep 10, 2021)	criteria provided, single submitter
Select item 17092224.	NM_002775.5(HTRA1):c.857T>C (p.Phe286Ser) GRCh37: Chr10:124266286 GRCh38: Chr10:122506770	HTRA1	F286S	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 16874325.	NM_002775.5(HTRA1):c.972+1G>C GRCh37: Chr10:124266402 GRCh38: Chr10:122506886	HTRA1		Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 16797476.	NM_002775.5(HTRA1):c.283G>T (p.Val95Leu) GRCh37: Chr10:124221451 GRCh38: Chr10:122461935	HTRA1	V95L	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Uncertain significance (Jun 15, 2021)	criteria provided, single submitter
Select item 15014807.	NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp) GRCh37: Chr10:124266249 GRCh38: Chr10:122506733	HTRA1	R274W	Inborn genetic diseases, not provided, Age related macular degeneration 7, CARASIL syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13335908.	NM_002775.5(HTRA1):c.590G>A (p.Arg197Gln) GRCh37: Chr10:124248955 GRCh38: Chr10:122489439	HTRA1	R197Q	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 13328259.	NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) GRCh37: Chr10:124266334 GRCh38: Chr10:122506818	HTRA1	R302Q	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, CARASIL syndrome, not provided	Pathogenic/Likely pathogenic (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132581910.	NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys) GRCh37: Chr10:124248441 GRCh38: Chr10:122488925	HTRA1	R166C	not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129699811.	NM_002775.5(HTRA1):c.983C>T (p.Ser328Leu) GRCh37: Chr10:124266896 GRCh38: Chr10:122507380	HTRA1	S328L	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 125985612.	NM_002775.5(HTRA1):c.1275-36C>T GRCh37: Chr10:124273671 GRCh38: Chr10:122514155	HTRA1		CARASIL syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, not provided	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118413913.	NM_002775.5(HTRA1):c.820C>G (p.Arg274Gly) GRCh37: Chr10:124266249 GRCh38: Chr10:122506733	HTRA1	R274G	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic (Jul 22, 2021)	no assertion criteria provided
Select item 97774314.	NM_002775.5(HTRA1):c.835G>A (p.Val279Met) GRCh37: Chr10:124266264 GRCh38: Chr10:122506748	HTRA1	V279M	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97605715.	NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter) GRCh37: Chr10:124221306 GRCh38: Chr10:122461790	HTRA1	C46*	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Uncertain significance (Oct 22, 2018)	criteria provided, single submitter
Select item 52357816.	NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) GRCh37: Chr10:124266400 GRCh38: Chr10:122506884	HTRA1	N324T	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 52357717.	NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) GRCh37: Chr10:124266294 GRCh38: Chr10:122506778	HTRA1	Q289*	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, not provided	Pathogenic (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52357618.	NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) GRCh37: Chr10:124266256 GRCh38: Chr10:122506740	HTRA1	G276A	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 52357519.	NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) GRCh37: Chr10:124249132 GRCh38: Chr10:122489616	HTRA1	I256T	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 52357420.	NM_002775.5(HTRA1):c.543del (p.Ala182fs) GRCh37: Chr10:124248488 GRCh38: Chr10:122488972	HTRA1	A182fs	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, not provided	Pathogenic (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52357321.	NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) GRCh37: Chr10:124248481 GRCh38: Chr10:122488965	HTRA1	I179N	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 52357222.	NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) GRCh37: Chr10:124221527 GRCh38: Chr10:122462011	HTRA1	G120D	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 29905523.	NM_002775.5(HTRA1):c.1274+14G>A GRCh37: Chr10:124271595 GRCh38: Chr10:122512079	HTRA1		Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, not provided, Macular degeneration, CARASIL syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29905424.	NM_002775.5(HTRA1):c.1274+8G>A GRCh37: Chr10:124271589 GRCh38: Chr10:122512073	HTRA1		Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, not provided, Macular degeneration, CARASIL syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22123125.	NM_002775.5(HTRA1):c.973-1G>A GRCh37: Chr10:124266885 GRCh38: Chr10:122507369	HTRA1		Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Pathogenic (Sep 21, 2016)	no assertion criteria provided
Select item 22123026.	NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) GRCh37: Chr10:124266281 GRCh38: Chr10:122506765	HTRA1	S284R	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Pathogenic (Sep 21, 2016)	no assertion criteria provided
Select item 22122927.	NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) GRCh37: Chr10:124248462 GRCh38: Chr10:122488946	HTRA1	A173P	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Pathogenic (Sep 21, 2016)	no assertion criteria provided
Select item 22122828.	NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) GRCh37: Chr10:124248442 GRCh38: Chr10:122488926	HTRA1	R166L	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 748829.	NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) GRCh37: Chr10:124266333 GRCh38: Chr10:122506817	HTRA1	R302*	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, not provided	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 29