ENG[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 4260471.	NM_001114753.3(ENG):c.1853G>T (p.Arg618Leu) GRCh37: Chr9:130578085 GRCh38: Chr9:127815806	ENG	R618L, R436L	Pulmonary hypertension, primary, 1	Pathogenic	no assertion criteria provided
Select item 4260462.	NM_001114753.3(ENG):c.1804del (p.Ile602fs) GRCh37: Chr9:130578270 GRCh38: Chr9:127815991	ENG	I602fs, I420fs	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	Pathogenic	no assertion criteria provided
Select item 9824613.	NM_001114753.3(ENG):c.220-988_1134+331del GRCh37: Chr9:130586252-130593094 GRCh38: Chr9:127823973-127830815	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 9824604.	NM_001114753.3(ENG):c.220-226_1134+331del GRCh37: Chr9:130586252-130592332 GRCh38: Chr9:127823973-127830053	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 5840145.	NC_000009.12:g.(?_127824284)_(127829847_?)del GRCh37: Chr9:130586563-130592126 GRCh38: Chr9:127824284-127829847	ENG		Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Likely pathogenic (Feb 2, 2018)	criteria provided, single submitter
Select item 5839746.	NC_000009.12:g.(?_127824284)_(127824994_?)del GRCh37: Chr9:130586563-130587273 GRCh38: Chr9:127824284-127824994	ENG		Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Likely pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 5834127.	NC_000009.12:g.(?_127824284)_(127854482_?)del GRCh37: Chr9:130586563-130616761 GRCh38: Chr9:127824284-127854482	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Mar 19, 2018)	criteria provided, single submitter
Select item 4583208.	NC_000009.11:g.(?_130586563)_(130592126_?)dup GRCh37: Chr9:130586563-130592126 GRCh38: Chr9:127824284-127829847	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jun 15, 2017)	criteria provided, single submitter
Select item 17291579.	NM_001114753.3(ENG):c.1134+1G>T GRCh37: Chr9:130586582 GRCh38: Chr9:127824303	ENG	V379L	Cardiovascular phenotype	Likely pathogenic (Sep 14, 2016)	criteria provided, single submitter
Select item 140344910.	NM_001114753.3(ENG):c.1134+1G>A GRCh37: Chr9:130586582 GRCh38: Chr9:127824303	ENG	V379I	Hereditary hemorrhagic telangiectasia	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 107439111.	NM_001114753.3(ENG):c.1134G>C (p.Ala378_His379=) GRCh37: Chr9:130586583 GRCh38: Chr9:127824304	ENG		Hereditary hemorrhagic telangiectasia	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 179799512.	NM_001114753.3(ENG):c.1122_1125del (p.Lys374fs) GRCh37: Chr9:130586592-130586595 GRCh38: Chr9:127824313-127824316	ENG	K192fs, K374fs	Cardiovascular phenotype	Pathogenic (Mar 6, 2017)	criteria provided, single submitter
Select item 45832613.	NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs) GRCh37: Chr9:130586592-130586593 GRCh38: Chr9:127824313-127824314	ENG	E193fs, E375fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Apr 8, 2017)	criteria provided, single submitter
Select item 41922514.	NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) GRCh37: Chr9:130586593-130586596 GRCh38: Chr9:127824314-127824317	ENG	K192fs, K374fs	Cardiovascular phenotype, not provided, Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133851915.	NM_001114753.3(ENG):c.1122dup (p.Glu375fs) GRCh37: Chr9:130586594-130586595 GRCh38: Chr9:127824315-127824316	ENG	E193fs, E375fs	not provided	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 179761016.	NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu) GRCh37: Chr9:130586597 GRCh38: Chr9:127824318	ENG	K192E, K374E	Cardiovascular phenotype	Likely pathogenic (Feb 24, 2017)	criteria provided, single submitter
Select item 45832517.	NM_001114753.3(ENG):c.1111dup (p.Val371fs) GRCh37: Chr9:130586605-130586606 GRCh38: Chr9:127824326-127824327	ENG	V371fs, V189fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 179461218.	NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro) GRCh37: Chr9:130586608 GRCh38: Chr9:127824329	ENG	L188P, L370P	Cardiovascular phenotype	Likely pathogenic (Sep 6, 2017)	criteria provided, single submitter
Select item 179331019.	NM_001114753.3(ENG):c.1104del (p.Met368fs) GRCh37: Chr9:130586613 GRCh38: Chr9:127824334	ENG	M186fs, M368fs	Cardiovascular phenotype	Pathogenic (May 23, 2017)	criteria provided, single submitter
Select item 178822820.	NM_001114753.3(ENG):c.1088dup (p.Cys363fs) GRCh37: Chr9:130586628-130586629 GRCh38: Chr9:127824349-127824350	ENG	C181fs, C363fs	Cardiovascular phenotype	Pathogenic (Sep 15, 2016)	criteria provided, single submitter
Select item 178826921.	NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr) GRCh37: Chr9:130586629 GRCh38: Chr9:127824350	ENG	C181Y, C363Y	Cardiovascular phenotype	Likely pathogenic (Jun 28, 2016)	criteria provided, single submitter
Select item 66158722.	NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) GRCh37: Chr9:130586629 GRCh38: Chr9:127824350	ENG	C181S, C363S	Hereditary hemorrhagic telangiectasia	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 133063523.	NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) GRCh37: Chr9:130586630 GRCh38: Chr9:127824351	ENG	C181R, C363R	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43268124.	NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) GRCh37: Chr9:130586632-130586633 GRCh38: Chr9:127824353-127824354	ENG	K362fs, K180fs	not provided, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21321425.	NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) GRCh37: Chr9:130586634-130586637 GRCh38: Chr9:127824355-127824358	ENG	T361fs, T179fs	Cardiovascular phenotype, not provided, Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178337326.	NM_001114753.3(ENG):c.1071_1080dup (p.Thr361fs) GRCh37: Chr9:130586636-130586637 GRCh38: Chr9:127824357-127824358	ENG	T179fs, T361fs	Cardiovascular phenotype	Pathogenic (Aug 23, 2021)	criteria provided, single submitter
Select item 135779627.	NM_001114753.3(ENG):c.1076dup (p.Gln360fs) GRCh37: Chr9:130586640-130586641 GRCh38: Chr9:127824361-127824362	ENG	Q178fs, Q360fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jun 10, 2021)	criteria provided, single submitter
Select item 40712028.	NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) GRCh37: Chr9:130586657-130586688 GRCh38: Chr9:127824378-127824409	ENG	T344fs, T162fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 18, 2016)	criteria provided, single submitter
Select item 177439229.	NM_001114753.3(ENG):c.1042_1054del (p.Asp348fs) GRCh37: Chr9:130586663-130586675 GRCh38: Chr9:127824384-127824396	ENG	D166fs, D348fs	Cardiovascular phenotype	Pathogenic (Jul 9, 2021)	criteria provided, single submitter
Select item 213580930.	NM_001114753.3(ENG):c.992-49_1046del GRCh37: Chr9:130586671-130586774 GRCh38: Chr9:127824392-127824495	ENG		Hereditary hemorrhagic telangiectasia	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 145305331.	NM_001114753.3(ENG):c.1042del (p.Asp348fs) GRCh37: Chr9:130586675 GRCh38: Chr9:127824396	ENG	D348fs, D166fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Dec 10, 2020)	criteria provided, single submitter
Select item 167995232.	NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter) GRCh37: Chr9:130586678 GRCh38: Chr9:127824399	ENG	K165, K347	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 52805733.	NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter) GRCh37: Chr9:130586693 GRCh38: Chr9:127824414	ENG	Q342, Q160	Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 12, 2017)	criteria provided, single submitter
Select item 47882134.	NM_001114753.3(ENG):c.1015_1024del (p.Ala339fs) GRCh37: Chr9:130586693-130586702 GRCh38: Chr9:127824414-127824423	ENG	A157fs, A339fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Dec 20, 2017)	no assertion criteria provided
Select item 177520835.	NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter) GRCh37: Chr9:130586714 GRCh38: Chr9:127824435	ENG	Q153, Q335	Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia	Pathogenic (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177001236.	NM_001114753.3(ENG):c.1002_1003delinsCT (p.Gln335Ter) GRCh37: Chr9:130586714-130586715 GRCh38: Chr9:127824435-127824436	ENG	Q335, Q153	Cardiovascular phenotype	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 144238737.	NM_001114753.3(ENG):c.996_997dup (p.Arg333fs) GRCh37: Chr9:130586719-130586720 GRCh38: Chr9:127824440-127824441	ENG	R151fs, R333fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jan 13, 2021)	criteria provided, single submitter
Select item 66331038.	NM_001114753.3(ENG):c.992-2A>G GRCh37: Chr9:130586727 GRCh38: Chr9:127824448	ENG		Telangiectasia, hereditary hemorrhagic, type 1, not provided, Hereditary hemorrhagic telangiectasia	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98246339.	NM_001114753.3(ENG):c.220-225_991+123del GRCh37: Chr9:130586956-130592331 GRCh38: Chr9:127824677-127830052	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246240.	NM_001114753.3(ENG):c.523+229_991+123del GRCh37: Chr9:130586956-130588560 GRCh38: Chr9:127824677-127826281	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 50388241.	NM_001114753.3(ENG):c.896_991+90del GRCh37: Chr9:130586989-130587174 GRCh38: Chr9:127824710-127824895	ENG		not provided	Likely pathogenic (Nov 28, 2017)	criteria provided, single submitter
Select item 144735542.	NM_001114753.3(ENG):c.991+4A>G GRCh37: Chr9:130587075 GRCh38: Chr9:127824796	ENG		Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66278943.	NM_001114753.3(ENG):c.991+2T>G GRCh37: Chr9:130587077 GRCh38: Chr9:127824798	ENG		Hereditary hemorrhagic telangiectasia	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 57514044.	NM_001114753.3(ENG):c.991+2T>C GRCh37: Chr9:130587077 GRCh38: Chr9:127824798	ENG		not provided, Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176859245.	NM_001114753.3(ENG):c.991+1G>C GRCh37: Chr9:130587078 GRCh38: Chr9:127824799	ENG		Cardiovascular phenotype	Pathogenic (Oct 31, 2018)	criteria provided, single submitter
Select item 40711546.	NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) GRCh37: Chr9:130587079 GRCh38: Chr9:127824800	ENG	G331S, G149S	not provided, Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176856947.	NM_001114753.3(ENG):c.990C>A (p.Cys330Ter) GRCh37: Chr9:130587080 GRCh38: Chr9:127824801	ENG	C330, C148	Cardiovascular phenotype	Pathogenic (Nov 18, 2021)	criteria provided, single submitter
Select item 66509848.	NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) GRCh37: Chr9:130587086-130587087 GRCh38: Chr9:127824807-127824808	ENG	S146, S328	Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 10, 2018)	criteria provided, single submitter
Select item 209058749.	NM_001114753.3(ENG):c.973dup (p.Leu325fs) GRCh37: Chr9:130587096-130587097 GRCh38: Chr9:127824817-127824818	ENG	L325fs, L143fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 169919650.	NM_001114753.3(ENG):c.974T>G (p.Leu325Arg) GRCh37: Chr9:130587096 GRCh38: Chr9:127824817	ENG	L143R, L325R	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 98320751.	NM_001114753.3(ENG):c.967_968del (p.Val323fs) GRCh37: Chr9:130587102-130587103 GRCh38: Chr9:127824823-127824824	ENG	V141fs, V323fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 213228752.	NM_001114753.3(ENG):c.966dup (p.Val323fs) GRCh37: Chr9:130587103-130587104 GRCh38: Chr9:127824824-127824825	ENG	V323fs, V141fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 207649053.	NM_001114753.3(ENG):c.944_945del (p.Val315fs) GRCh37: Chr9:130587125-130587126 GRCh38: Chr9:127824846-127824847	ENG	V133fs, V315fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 167857154.	NM_001114753.3(ENG):c.934del (p.Ala312fs) GRCh37: Chr9:130587136 GRCh38: Chr9:127824857	ENG	A130fs, A312fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213681855.	NM_001114753.3(ENG):c.932T>G (p.Val311Gly) GRCh37: Chr9:130587138 GRCh38: Chr9:127824859	ENG	V129G, V311G	Hereditary hemorrhagic telangiectasia	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 207649956.	NM_001114753.3(ENG):c.924_927dup (p.Ile310fs) GRCh37: Chr9:130587142-130587143 GRCh38: Chr9:127824863-127824864	ENG	I128fs, I310fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 145774057.	NM_001114753.3(ENG):c.922dup (p.Ala308fs) GRCh37: Chr9:130587147-130587148 GRCh38: Chr9:127824868-127824869	ENG	A308fs, A126fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 98320658.	NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) GRCh37: Chr9:130587147 GRCh38: Chr9:127824868	ENG	A126D, A308D	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54510459.	NM_001114753.3(ENG):c.920dup (p.Asn307fs) GRCh37: Chr9:130587149-130587150 GRCh38: Chr9:127824870-127824871	ENG	N307fs, N125fs	Hereditary hemorrhagic telangiectasia, Cerebral arteriovenous malformation	Pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176612660.	NM_001114753.3(ENG):c.919_920del (p.Asn307fs) GRCh37: Chr9:130587150-130587151 GRCh38: Chr9:127824871-127824872	ENG	N307fs, N125fs	Cardiovascular phenotype	Pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 1666961.	NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del) GRCh37: Chr9:130587150-130587188 GRCh38: Chr9:127824871-127824909	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Nov 22, 2017)	no assertion criteria provided
Select item 176604962.	NM_001114753.3(ENG):c.917_918del (p.Leu306fs) GRCh37: Chr9:130587152-130587153 GRCh38: Chr9:127824873-127824874	ENG	L124fs, L306fs	Cardiovascular phenotype	Pathogenic (Nov 28, 2018)	criteria provided, single submitter
Select item 57981563.	NM_001114753.3(ENG):c.911_918del (p.Arg304fs) GRCh37: Chr9:130587152-130587159 GRCh38: Chr9:127824873-127824880	ENG	R304fs, R122fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 176608564.	NM_001114753.3(ENG):c.917T>C (p.Leu306Pro) GRCh37: Chr9:130587153 GRCh38: Chr9:127824874	ENG	L306P, L124P	Cardiovascular phenotype	Likely pathogenic (Mar 10, 2021)	criteria provided, single submitter
Select item 176603665.	NM_001114753.3(ENG):c.916del (p.Leu306fs) GRCh37: Chr9:130587154 GRCh38: Chr9:127824875	ENG	L124fs, L306fs	Cardiovascular phenotype	Pathogenic (Aug 13, 2019)	criteria provided, single submitter
Select item 176583666.	NM_001114753.3(ENG):c.910del (p.Arg304fs) GRCh37: Chr9:130587160 GRCh38: Chr9:127824881	ENG	R122fs, R304fs	Cardiovascular phenotype	Pathogenic (May 2, 2019)	criteria provided, single submitter
Select item 45835667.	NM_001114753.3(ENG):c.904dup (p.Glu302fs) GRCh37: Chr9:130587165-130587166 GRCh38: Chr9:127824886-127824887	ENG	E120fs, E302fs	Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype	Pathogenic (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40713268.	NM_001114753.3(ENG):c.904G>T (p.Glu302Ter) GRCh37: Chr9:130587166 GRCh38: Chr9:127824887	ENG	E302, E120	not provided, Hereditary hemorrhagic telangiectasia	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98248469.	NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs) GRCh37: Chr9:130587169-130587171 GRCh38: Chr9:127824890-127824892	ENG	L118fs, L300fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 61862370.	NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) GRCh37: Chr9:130587171 GRCh38: Chr9:127824892	ENG	L300P, L118P	Cardiovascular phenotype, not provided, Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic/Likely pathogenic (Dec 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98248371.	NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) GRCh37: Chr9:130587174 GRCh38: Chr9:127824895	ENG	L117R, L299R	Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42221672.	NM_001114753.3(ENG):c.895del (p.Leu299fs) GRCh37: Chr9:130587175 GRCh38: Chr9:127824896	ENG	L117fs, L299fs	Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Mar 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 218040173.	NM_001114753.3(ENG):c.885_886del (p.Pro296fs) GRCh37: Chr9:130587184-130587185 GRCh38: Chr9:127824905-127824906	ENG	P114fs, P296fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 57129474.	NM_001114753.3(ENG):c.884C>T (p.Thr295Ile) GRCh37: Chr9:130587186 GRCh38: Chr9:127824907	ENG	T295I, T113I	Hereditary hemorrhagic telangiectasia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 28466975.	NM_001114753.3(ENG):c.880_881del (p.Asp294fs) GRCh37: Chr9:130587189-130587190 GRCh38: Chr9:127824910-127824911	ENG	D112fs, D294fs	not provided, Hereditary hemorrhagic telangiectasia	Pathogenic (Apr 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176466176.	NM_001114753.3(ENG):c.878del (p.Pro293fs) GRCh37: Chr9:130587192 GRCh38: Chr9:127824913	ENG	P111fs, P293fs	Cardiovascular phenotype	Pathogenic (Aug 19, 2016)	criteria provided, single submitter
Select item 209206177.	NM_001114753.3(ENG):c.875dup (p.Asp294fs) GRCh37: Chr9:130587194-130587195 GRCh38: Chr9:127824915-127824916	ENG	D294fs, D112fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 209439578.	NM_001114753.3(ENG):c.872_874delinsT (p.Lys291fs) GRCh37: Chr9:130587196-130587198 GRCh38: Chr9:127824917-127824919	ENG	K291fs, K109fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 107600479.	NM_001114753.3(ENG):c.863_867dup (p.Phe290fs) GRCh37: Chr9:130587202-130587203 GRCh38: Chr9:127824923-127824924	ENG	F108fs, F290fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Nov 6, 2020)	criteria provided, single submitter
Select item 143851880.	NM_001114753.3(ENG):c.851del (p.Glu284fs) GRCh37: Chr9:130587219 GRCh38: Chr9:127824940	ENG	E102fs, E284fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 176331481.	NM_001114753.3(ENG):c.841del (p.Ile281fs) GRCh37: Chr9:130587229 GRCh38: Chr9:127824950	ENG	I281fs, I99fs	Cardiovascular phenotype	Pathogenic (Jul 18, 2014)	criteria provided, single submitter
Select item 81132982.	NM_001114753.3(ENG):c.838A>T (p.Lys280Ter) GRCh37: Chr9:130587232 GRCh38: Chr9:127824953	ENG	K280, K98	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Feb 21, 2019)	criteria provided, single submitter
Select item 142717683.	NM_001114753.3(ENG):c.836del (p.Phe279fs) GRCh37: Chr9:130587234 GRCh38: Chr9:127824955	ENG	F279fs, F97fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Mar 2, 2021)	criteria provided, single submitter
Select item 176296584.	NM_001114753.3(ENG):c.832T>C (p.Ser278Pro) GRCh37: Chr9:130587238 GRCh38: Chr9:127824959	ENG	S278P, S96P	Cardiovascular phenotype	Likely pathogenic (Aug 7, 2018)	criteria provided, single submitter
Select item 57930285.	NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter) GRCh37: Chr9:130587239 GRCh38: Chr9:127824960	ENG	Y277, Y95	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1666886.	NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter) GRCh37: Chr9:130587239 GRCh38: Chr9:127824960	ENG	Y277, Y95	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Nov 22, 2017)	no assertion criteria provided
Select item 176276087.	NM_001114753.3(ENG):c.828del (p.Glu276fs) GRCh37: Chr9:130587242 GRCh38: Chr9:127824963	ENG	E276fs, E94fs	Cardiovascular phenotype	Pathogenic (Jun 8, 2015)	criteria provided, single submitter
Select item 176254688.	NM_001114753.3(ENG):c.822del (p.Gly275fs) GRCh37: Chr9:130587248 GRCh38: Chr9:127824969	ENG	G275fs, G93fs	Cardiovascular phenotype	Pathogenic (Jun 7, 2019)	criteria provided, single submitter
Select item 94789189.	NM_001114753.3(ENG):c.821C>T (p.Thr274Ile) GRCh37: Chr9:130587249 GRCh38: Chr9:127824970	ENG	T274I, T92I	Hereditary hemorrhagic telangiectasia	Likely pathogenic (Aug 20, 2021)	criteria provided, single submitter
Select item 98248290.	NM_001114753.3(ENG):c.817-1G>A GRCh37: Chr9:130587254 GRCh38: Chr9:127824975	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 57325991.	NM_001114753.3(ENG):c.817-1G>C GRCh37: Chr9:130587254 GRCh38: Chr9:127824975	ENG		Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype	Pathogenic (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176223092.	NM_001114753.3(ENG):c.816+5G>C GRCh37: Chr9:130587505 GRCh38: Chr9:127825226	ENG		Cardiovascular phenotype	Likely pathogenic (May 7, 2015)	criteria provided, single submitter
Select item 44409893.	NM_001114753.3(ENG):c.816+1G>A GRCh37: Chr9:130587509 GRCh38: Chr9:127825230	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic	no assertion criteria provided
Select item 28002194.	NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) GRCh37: Chr9:130587510 GRCh38: Chr9:127825231	ENG	W272, W90	Cardiovascular phenotype, not provided	Pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64888895.	NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) GRCh37: Chr9:130587511 GRCh38: Chr9:127825232	ENG	W272, W90	Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype	Pathogenic (Mar 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45835596.	NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) GRCh37: Chr9:130587518 GRCh38: Chr9:127825239	ENG	Q270, Q88	not provided, Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93761297.	NM_001114753.3(ENG):c.806T>G (p.Met269Arg) GRCh37: Chr9:130587520 GRCh38: Chr9:127825241	ENG	M269R, M87R	Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 63816698.	NM_001114753.3(ENG):c.780_789dup (p.Asp264fs) GRCh37: Chr9:130587536-130587537 GRCh38: Chr9:127825257-127825258	ENG	D264fs, D82fs	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Apr 30, 2019)	criteria provided, single submitter
Select item 86224699.	NM_001114753.3(ENG):c.787_789del (p.Ile263del) GRCh37: Chr9:130587537-130587539 GRCh38: Chr9:127825258-127825260	ENG	I263del, I81del	Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia	Pathogenic/Likely pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1330519100.	NM_001114753.3(ENG):c.788T>G (p.Ile263Ser) GRCh37: Chr9:130587538 GRCh38: Chr9:127825259	ENG	I263S, I81S	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jan 20, 2021)	criteria provided, single submitter

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