ACVRL1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogeni - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6573921.	NC_000012.12:g.(?_51912465)_(51920903_?)del GRCh37: Chr12:52306249-52314687 GRCh38: Chr12:51912465-51920903	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 17822762.	NM_000020.3(ACVRL1):c.18dup (p.Arg7fs) GRCh37: Chr12:52306271-52306272 GRCh38: Chr12:51912487-51912488	ACVRL1	R7fs	Cardiovascular phenotype	Pathogenic (Jul 11, 2018)	criteria provided, single submitter
Select item 4260093.	NM_000020.3(ACVRL1):c.37del (p.Leu13fs) GRCh37: Chr12:52306295 GRCh38: Chr12:51912511	ACVRL1	L13fs	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	Pathogenic	no assertion criteria provided
Select item 4113014.	NM_000020.3(ACVRL1):c.41dup (p.Met15fs) GRCh37: Chr12:52306298-52306299 GRCh38: Chr12:51912514-51912515	ACVRL1	M15fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jul 3, 2017)	criteria provided, single submitter
Select item 14582005.	NM_000020.3(ACVRL1):c.50dup (p.Leu17fs) GRCh37: Chr12:52306306-52306307 GRCh38: Chr12:51912522-51912523	ACVRL1	L17fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 14, 2021)	criteria provided, single submitter
Select item 5333426.	NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter) GRCh37: Chr12:52306316 GRCh38: Chr12:51912532	ACVRL1	Q20*	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 21360517.	NM_000020.3(ACVRL1):c.61+1G>T GRCh37: Chr12:52306320 GRCh38: Chr12:51912536	ACVRL1		not provided	Likely pathogenic (Jan 23, 2023)	criteria provided, single submitter
Select item 19623988.	NM_000020.3(ACVRL1):c.61+1G>A GRCh37: Chr12:52306320 GRCh38: Chr12:51912536	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 17523609.	NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG GRCh37: Chr12:52306847-52306887 GRCh38: Chr12:51913063-51913103	ACVRL1		Cardiovascular phenotype	Likely pathogenic (Apr 22, 2021)	criteria provided, single submitter
Select item 53336010.	NC_000012.12:g.(?_51913079)_(51913790_?)del GRCh37: Chr12:52306863-52307574 GRCh38: Chr12:51913079-51913790	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Nov 18, 2017)	criteria provided, single submitter
Select item 175440811.	NM_000020.3(ACVRL1):c.65del (p.Asp22fs) GRCh37: Chr12:52306886 GRCh38: Chr12:51913102	ACVRL1	D22fs	Cardiovascular phenotype	Pathogenic (Sep 22, 2021)	criteria provided, single submitter
Select item 133026712.	NM_000020.3(ACVRL1):c.68del (p.Pro23fs) GRCh37: Chr12:52306887 GRCh38: Chr12:51913103	ACVRL1	P23fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Dec 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 175718413.	NM_000020.3(ACVRL1):c.71_93del (p.Val24fs) GRCh37: Chr12:52306889-52306911 GRCh38: Chr12:51913105-51913127	ACVRL1	V24fs	Cardiovascular phenotype	Pathogenic (Jul 5, 2019)	criteria provided, single submitter
Select item 81121814.	NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) GRCh37: Chr12:52306891-52306898 GRCh38: Chr12:51913107-51913114	ACVRL1	K25fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 175871315.	NM_000020.3(ACVRL1):c.73A>T (p.Lys25Ter) GRCh37: Chr12:52306894 GRCh38: Chr12:51913110	ACVRL1	K25*	Cardiovascular phenotype	Pathogenic (Apr 9, 2018)	criteria provided, single submitter
Select item 175874416.	NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer) GRCh37: Chr12:52306895-52306898 GRCh38: Chr12:51913111-51913114	ACVRL1		Cardiovascular phenotype	Pathogenic (Sep 11, 2020)	criteria provided, single submitter
Select item 107247517.	NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs) GRCh37: Chr12:52306899-52306902 GRCh38: Chr12:51913115-51913118	ACVRL1	S27fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jun 27, 2020)	criteria provided, single submitter
Select item 84724618.	NM_000020.3(ACVRL1):c.86del (p.Gly29fs) GRCh37: Chr12:52306904 GRCh38: Chr12:51913120	ACVRL1	G29fs	Telangiectasia, hereditary hemorrhagic, type 2, not provided	Pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44410219.	NM_000020.3(ACVRL1):c.100dup (p.Cys34fs) GRCh37: Chr12:52306920-52306921 GRCh38: Chr12:51913136-51913137	ACVRL1	C34fs	Cardiovascular phenotype	Pathogenic (Aug 17, 2021)	criteria provided, single submitter
Select item 190316720.	NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg) GRCh37: Chr12:52306921 GRCh38: Chr12:51913137	ACVRL1	C34R	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 175607221.	NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr) GRCh37: Chr12:52306922 GRCh38: Chr12:51913138	ACVRL1	C34Y	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94990322.	NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) GRCh37: Chr12:52306923 GRCh38: Chr12:51913139	ACVRL1	C34*	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jul 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49505223.	NM_000020.3(ACVRL1):c.105del (p.Cys36fs) GRCh37: Chr12:52306926 GRCh38: Chr12:51913142	ACVRL1	C36fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jul 17, 2017)	criteria provided, single submitter
Select item 106697924.	NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg) GRCh37: Chr12:52306927 GRCh38: Chr12:51913143	ACVRL1	C36R	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 107277625.	NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs) GRCh37: Chr12:52306935-52306936 GRCh38: Chr12:51913151-51913152	ACVRL1	P39fs	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Apr 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 107065126.	NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly) GRCh37: Chr12:52306942 GRCh38: Chr12:51913158	ACVRL1	C41G	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 85943927.	NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr) GRCh37: Chr12:52306943 GRCh38: Chr12:51913159	ACVRL1	C41Y	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 96267928.	NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) GRCh37: Chr12:52306946-52306947 GRCh38: Chr12:51913162-51913163	ACVRL1	P44fs	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Nov 14, 2019)	criteria provided, multiple submitters, no conflicts
Select item 177012729.	NM_000020.3(ACVRL1):c.133_148del (p.Thr45fs) GRCh37: Chr12:52306947-52306962 GRCh38: Chr12:51913163-51913178	ACVRL1	T45fs	Cardiovascular phenotype	Pathogenic (May 13, 2015)	criteria provided, single submitter
Select item 135926530.	NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs) GRCh37: Chr12:52306947-52306960 GRCh38: Chr12:51913163-51913176	ACVRL1	P44fs	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Apr 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176771331.	NM_000020.3(ACVRL1):c.128_132del (p.Gly43fs) GRCh37: Chr12:52306949-52306953 GRCh38: Chr12:51913165-51913169	ACVRL1	G43fs	Cardiovascular phenotype	Pathogenic (Apr 14, 2019)	criteria provided, single submitter
Select item 176938832.	NM_000020.3(ACVRL1):c.130_146delinsTGCACAGTAGTG (p.Pro44fs) GRCh37: Chr12:52306951-52306967 GRCh38: Chr12:51913167-51913183	ACVRL1	P44fs	Cardiovascular phenotype	Pathogenic (Dec 2, 2019)	criteria provided, single submitter
Select item 107414233.	NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs) GRCh37: Chr12:52306952-52306953 GRCh38: Chr12:51913168-51913169	ACVRL1	C46fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Dec 7, 2018)	criteria provided, single submitter
Select item 197625334.	NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs) GRCh37: Chr12:52306953 GRCh38: Chr12:51913169	ACVRL1	C46fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Oct 22, 2019)	criteria provided, single submitter
Select item 98245035.	NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) GRCh37: Chr12:52306958-52306959 GRCh38: Chr12:51913174-51913175	ACVRL1	R47fs	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Jan 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 50368136.	NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) GRCh37: Chr12:52306960-52306961 GRCh38: Chr12:51913176-51913177	ACVRL1	R47fs	not provided, Cardiovascular phenotype	Pathogenic (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21280537.	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) GRCh37: Chr12:52306960-52306961 GRCh38: Chr12:51913176-51913177	ACVRL1	A49fs	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype, not provided	Pathogenic (Jan 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56843638.	NM_000020.3(ACVRL1):c.145del (p.Ala49fs) GRCh37: Chr12:52306961 GRCh38: Chr12:51913177	ACVRL1	A49fs	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38152539.	NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) GRCh37: Chr12:52306961 GRCh38: Chr12:51913177	ACVRL1	R47P	Cardiovascular phenotype, not provided, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic/Likely pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138231140.	NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg) GRCh37: Chr12:52306963 GRCh38: Chr12:51913179	ACVRL1	G48R	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 15635041.	NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) GRCh37: Chr12:52306964 GRCh38: Chr12:51913180	ACVRL1	G48E	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic/Likely pathogenic (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 824742.	NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) GRCh37: Chr12:52306964-52306968 GRCh38: Chr12:51913180-51913184	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (May 1, 2000)	no assertion criteria provided
Select item 150935043.	NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly) GRCh37: Chr12:52306969 GRCh38: Chr12:51913185	ACVRL1	W50G	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 46476044.	NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg) GRCh37: Chr12:52306969 GRCh38: Chr12:51913185	ACVRL1	W50R	Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic, type 2, Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145944745.	NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys) GRCh37: Chr12:52306971 GRCh38: Chr12:51913187	ACVRL1	W50C	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 21, 2021)	criteria provided, single submitter
Select item 824646.	NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) GRCh37: Chr12:52306971 GRCh38: Chr12:51913187	ACVRL1	W50C	Cardiovascular phenotype, not provided, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213250947.	NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser) GRCh37: Chr12:52306972 GRCh38: Chr12:51913188	ACVRL1	C51S	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (May 1, 2022)	criteria provided, single submitter
Select item 21279748.	NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) GRCh37: Chr12:52306973 GRCh38: Chr12:51913189	ACVRL1	C51Y	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype, not provided	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177500449.	NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro) GRCh37: Chr12:52306975 GRCh38: Chr12:51913191	ACVRL1	T52P	Cardiovascular phenotype	Likely pathogenic (Sep 26, 2016)	criteria provided, single submitter
Select item 177977550.	NM_000020.3(ACVRL1):c.177_180dup (p.Arg61fs) GRCh37: Chr12:52306997-52306998 GRCh38: Chr12:51913213-51913214	ACVRL1	R61fs	Cardiovascular phenotype	Pathogenic (Jul 5, 2016)	criteria provided, single submitter
Select item 41131251.	NM_000020.3(ACVRL1):c.183del (p.Arg61fs) GRCh37: Chr12:52307003 GRCh38: Chr12:51913219	ACVRL1	R61fs	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41130652.	NM_000020.3(ACVRL1):c.190del (p.Gln64fs) GRCh37: Chr12:52307007 GRCh38: Chr12:51913223	ACVRL1	Q64fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Oct 8, 2016)	criteria provided, single submitter
Select item 64307253.	NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter) GRCh37: Chr12:52307011 GRCh38: Chr12:51913227	ACVRL1	Q64*	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jan 29, 2019)	criteria provided, single submitter
Select item 140706754.	NM_000020.3(ACVRL1):c.193del (p.Glu65fs) GRCh37: Chr12:52307013 GRCh38: Chr12:51913229	ACVRL1	E65fs	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145505755.	NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter) GRCh37: Chr12:52307014 GRCh38: Chr12:51913230	ACVRL1	E65*	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116305556.	NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly) GRCh37: Chr12:52307020 GRCh38: Chr12:51913236	ACVRL1	R67G	not provided	Likely pathogenic (Sep 23, 2019)	criteria provided, single submitter
Select item 42601057.	NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) GRCh37: Chr12:52307020 GRCh38: Chr12:51913236	ACVRL1	R67W	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2, not provided, Abnormality of the pulmonary vasculature	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44410058.	NM_000020.3(ACVRL1):c.200G>C (p.Arg67Pro) GRCh37: Chr12:52307021 GRCh38: Chr12:51913237	ACVRL1	R67P	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic	no assertion criteria provided
Select item 21280359.	NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) GRCh37: Chr12:52307021 GRCh38: Chr12:51913237	ACVRL1	R67Q	not provided, Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Nov 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133026860.	NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) GRCh37: Chr12:52307026 GRCh38: Chr12:51913242	ACVRL1	C69R	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93512161.	NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr) GRCh37: Chr12:52307027 GRCh38: Chr12:51913243	ACVRL1	C69Y	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Apr 22, 2022)	criteria provided, single submitter
Select item 53335362.	NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) GRCh37: Chr12:52307027 GRCh38: Chr12:51913243	ACVRL1	C69F	not provided, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic/Likely pathogenic (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93828163.	NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) GRCh37: Chr12:52307028 GRCh38: Chr12:51913244	ACVRL1	C69*	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Sep 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 178589764.	NM_000020.3(ACVRL1):c.210_213delinsAAA (p.Leu72fs) GRCh37: Chr12:52307031-52307034 GRCh38: Chr12:51913247-51913250	ACVRL1	L72fs	Cardiovascular phenotype	Pathogenic (Jan 17, 2020)	criteria provided, single submitter
Select item 140377665.	NM_000020.3(ACVRL1):c.223del (p.Glu75fs) GRCh37: Chr12:52307042 GRCh38: Chr12:51913258	ACVRL1	E75fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 93348466.	NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter) GRCh37: Chr12:52307044 GRCh38: Chr12:51913260	ACVRL1	E75*	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jun 23, 2019)	criteria provided, single submitter
Select item 178924367.	NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg) GRCh37: Chr12:52307050 GRCh38: Chr12:51913266	ACVRL1	C77R	Cardiovascular phenotype	Likely pathogenic (Sep 26, 2016)	criteria provided, single submitter
Select item 95198568.	NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp) GRCh37: Chr12:52307052 GRCh38: Chr12:51913268	ACVRL1	C77W	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 64490869.	NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) GRCh37: Chr12:52307053-52307054 GRCh38: Chr12:51913269-51913270	ACVRL1	R80fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 83885670.	NM_000020.3(ACVRL1):c.237del (p.Arg80fs) GRCh37: Chr12:52307054 GRCh38: Chr12:51913270	ACVRL1	R80fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jan 3, 2019)	criteria provided, single submitter
Select item 179013871.	NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg) GRCh37: Chr12:52307056 GRCh38: Chr12:51913272	ACVRL1	G79R	Cardiovascular phenotype	Likely pathogenic (Mar 12, 2021)	criteria provided, single submitter
Select item 53335072.	NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) GRCh37: Chr12:52307057 GRCh38: Chr12:51913273	ACVRL1	G79E	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179055673.	NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs) GRCh37: Chr12:52307060-52307061 GRCh38: Chr12:51913276-51913277	ACVRL1	T82fs	Cardiovascular phenotype	Pathogenic (Oct 16, 2020)	criteria provided, single submitter
Select item 98245474.	NM_000020.3(ACVRL1):c.259del (p.His87fs) GRCh37: Chr12:52307079 GRCh38: Chr12:51913295	ACVRL1	H87fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 61851575.	NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) GRCh37: Chr12:52307085 GRCh38: Chr12:51913301	ACVRL1	Y88*	not provided	Pathogenic (Aug 24, 2017)	criteria provided, single submitter
Select item 53335276.	NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly) GRCh37: Chr12:52307086 GRCh38: Chr12:51913302	ACVRL1	C89G	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 43938177.	NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) GRCh37: Chr12:52307086 GRCh38: Chr12:51913302	ACVRL1	C89R	Cardiovascular phenotype, not specified, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic/Likely pathogenic (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 41129978.	NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe) GRCh37: Chr12:52307087 GRCh38: Chr12:51913303	ACVRL1	C89F	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 65288079.	NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp) GRCh37: Chr12:52307088 GRCh38: Chr12:51913304	ACVRL1	C89W	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 65218480.	NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) GRCh37: Chr12:52307090 GRCh38: Chr12:51913306	ACVRL1	C90F	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21279881.	NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) GRCh37: Chr12:52307090 GRCh38: Chr12:51913306	ACVRL1	C90Y	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Aug 14, 2020)	criteria provided, multiple submitters, no conflicts
Select item 179504282.	NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp) GRCh37: Chr12:52307091 GRCh38: Chr12:51913307	ACVRL1	C90W	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic/Likely pathogenic (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65429683.	NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) GRCh37: Chr12:52307091 GRCh38: Chr12:51913307	ACVRL1	C90*	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic/Likely pathogenic (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43937884.	NM_000020.3(ACVRL1):c.271del (p.Asp91fs) GRCh37: Chr12:52307092 GRCh38: Chr12:51913308	ACVRL1	D91fs	not specified	Pathogenic (Sep 20, 2016)	criteria provided, single submitter
Select item 169879485.	NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp) GRCh37: Chr12:52307107 GRCh38: Chr12:51913323	ACVRL1	N96D	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Oct 14, 2020)	criteria provided, single submitter
Select item 179714886.	NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser) GRCh37: Chr12:52307108 GRCh38: Chr12:51913324	ACVRL1	N96S	Cardiovascular phenotype	Likely pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 42695987.	NM_000020.3(ACVRL1):c.295_299del (p.Val99fs) GRCh37: Chr12:52307115-52307119 GRCh38: Chr12:51913331-51913335	ACVRL1	V99fs	not provided	Pathogenic (Mar 21, 2017)	criteria provided, single submitter
Select item 42092088.	NM_000020.3(ACVRL1):c.302del (p.Leu101fs) GRCh37: Chr12:52307123 GRCh38: Chr12:51913339	ACVRL1	L101fs	not provided	Likely pathogenic (Dec 13, 2016)	criteria provided, single submitter
Select item 172773989.	NM_000020.3(ACVRL1):c.310G>T (p.Glu104Ter) GRCh37: Chr12:52307131 GRCh38: Chr12:51913347	ACVRL1	E104*	Cardiovascular phenotype	Pathogenic (Mar 3, 2021)	criteria provided, single submitter
Select item 172795490.	NM_000020.3(ACVRL1):c.313_313+1del GRCh37: Chr12:52307133-52307134 GRCh38: Chr12:51913349-51913350	ACVRL1		Cardiovascular phenotype	Likely pathogenic (May 18, 2020)	criteria provided, single submitter
Select item 145874091.	NM_000020.3(ACVRL1):c.313+1G>A GRCh37: Chr12:52307135 GRCh38: Chr12:51913351	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 17, 2021)	criteria provided, single submitter
Select item 46476192.	NM_000020.3(ACVRL1):c.313+1G>T GRCh37: Chr12:52307135 GRCh38: Chr12:51913351	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 172795793.	NM_000020.3(ACVRL1):c.313+2T>C GRCh37: Chr12:52307136 GRCh38: Chr12:51913352	ACVRL1		Cardiovascular phenotype	Likely pathogenic (Nov 18, 2015)	criteria provided, single submitter
Select item 53335894.	NC_000012.12:g.(?_51913539)_(51919135_?)del GRCh37: Chr12:52307323-52312919 GRCh38: Chr12:51913539-51919135	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Apr 3, 2018)	criteria provided, single submitter
Select item 107304195.	NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter) GRCh37: Chr12:52307358 GRCh38: Chr12:51913574	ACVRL1	S110*	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 23, 2020)	criteria provided, single submitter
Select item 81285296.	NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) GRCh37: Chr12:52307363 GRCh38: Chr12:51913579	ACVRL1	Q112*	Cardiovascular phenotype	Pathogenic (May 11, 2016)	criteria provided, single submitter
Select item 95722597.	NM_000020.3(ACVRL1):c.336del (p.Gln112fs) GRCh37: Chr12:52307365 GRCh38: Chr12:51913581	ACVRL1	Q112fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Sep 12, 2019)	criteria provided, single submitter
Select item 173236098.	NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs) GRCh37: Chr12:52307376-52307377 GRCh38: Chr12:51913592-51913593	ACVRL1	L121fs	Cardiovascular phenotype	Pathogenic (May 30, 2018)	criteria provided, single submitter
Select item 93060899.	NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter) GRCh37: Chr12:52307381 GRCh38: Chr12:51913597	ACVRL1	Q118*	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Nov 27, 2019)	criteria provided, single submitter
Select item 1069624100.	NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs) GRCh37: Chr12:52307386-52307398 GRCh38: Chr12:51913602-51913614	ACVRL1	L121fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Mar 9, 2020)	criteria provided, single submitter

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