ClinVar for MedGen (Select 324960) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 641

<< First< Prev

Page of 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25065861.	NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del) GRCh37: Chr12:52307106-52307111 GRCh38: Chr12:51913322-51913327	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic	criteria provided, single submitter
Select item 24221462.	NC_000012.11:g.(?_52306259)_(52310037_?)dup GRCh37: Chr12:52306259-52310037	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 24221453.	NC_000012.11:g.(?_52309800)_(52310037_?)del GRCh37: Chr12:52309800-52310037	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 24132224.	NM_000020.3(ACVRL1):c.1110G>A (p.Val370=) GRCh37: Chr12:52309881 GRCh38: Chr12:51916097	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 22011025.	NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln) GRCh37: Chr12:52312883 GRCh38: Chr12:51919099	ACVRL1	R350Q, R266Q, R454Q, R284Q, R402Q	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 21755906.	NM_000020.3(ACVRL1):c.1048+8G>A GRCh37: Chr12:52309292 GRCh38: Chr12:51915508	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 21695707.	NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr) GRCh37: Chr12:52309969 GRCh38: Chr12:51916185	ACVRL1	A212T, A400T, A296T	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 21659398.	NM_000020.3(ACVRL1):c.469C>T (p.Leu157=) GRCh37: Chr12:52307498 GRCh38: Chr12:51913714	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 21569529.	NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val) GRCh37: Chr12:52309963 GRCh38: Chr12:51916179	ACVRL1	I210V, I294V, I398V	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 215442110.	NM_000020.3(ACVRL1):c.368T>A (p.Leu123Gln) GRCh37: Chr12:52307397 GRCh38: Chr12:51913613	ACVRL1	L123Q	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 213737211.	NM_000020.3(ACVRL1):c.1048+5G>A GRCh37: Chr12:52309289 GRCh38: Chr12:51915505	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 213737112.	NM_000020.3(ACVRL1):c.988G>T (p.Asp330Tyr) GRCh37: Chr12:52309224 GRCh38: Chr12:51915440	ACVRL1	D226Y, D330Y, D142Y	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 213737013.	NM_000020.3(ACVRL1):c.864dup (p.Leu289fs) GRCh37: Chr12:52309097-52309098 GRCh38: Chr12:51915313-51915314	ACVRL1	L289fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 213395714.	NM_000020.3(ACVRL1):c.1315A>T (p.Lys439Ter) GRCh37: Chr12:52312837 GRCh38: Chr12:51919053	ACVRL1	K269, K335, K387, K439, K251*	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 213250915.	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 210249816.	NM_000020.3(ACVRL1):c.526-13T>A GRCh37: Chr12:52307745 GRCh38: Chr12:51913961	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 210082317.	NM_000020.3(ACVRL1):c.1260del (p.Tyr421fs) GRCh37: Chr12:52312782 GRCh38: Chr12:51918998	ACVRL1	Y421fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 209742218.	NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe) GRCh37: Chr12:52308285 GRCh38: Chr12:51914501	ACVRL1	I126F, I230F, I42F	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 209166219.	NM_000020.3(ACVRL1):c.773-7C>T GRCh37: Chr12:52309002 GRCh38: Chr12:51915218	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 207834320.	NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser) GRCh37: Chr12:52309083 GRCh38: Chr12:51915299	ACVRL1	G95S, G179S, G283S	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 207560921.	NM_000020.3(ACVRL1):c.271G>A (p.Asp91Asn) GRCh37: Chr12:52307092 GRCh38: Chr12:51913308	ACVRL1	D91N	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 207234722.	NM_000020.3(ACVRL1):c.314-9C>T GRCh37: Chr12:52307334 GRCh38: Chr12:51913550	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 206284723.	NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro) GRCh37: Chr12:52307528 GRCh38: Chr12:51913744	ACVRL1	S167P	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 206159624.	NM_000020.3(ACVRL1):c.897T>C (p.Ala299=) GRCh37: Chr12:52309133 GRCh38: Chr12:51915349	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 205269125.	NM_000020.3(ACVRL1):c.938T>G (p.Leu313Arg) GRCh37: Chr12:52309174 GRCh38: Chr12:51915390	ACVRL1	L125R, L209R, L313R	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 204211526.	NM_000020.3(ACVRL1):c.62-9G>A GRCh37: Chr12:52306874 GRCh38: Chr12:51913090	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 203770027.	NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly) GRCh37: Chr12:52307505 GRCh38: Chr12:51913721	ACVRL1	E159G	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 203670728.	NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs) GRCh37: Chr12:52314570-52314571 GRCh38: Chr12:51920786-51920787	ACVRL1	E470fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 203657329.	NM_000020.3(ACVRL1):c.430del (p.Arg144fs) GRCh37: Chr12:52307458 GRCh38: Chr12:51913674	ACVRL1	R144fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Oct 23, 2022)	criteria provided, single submitter
Select item 203656030.	NM_000020.3(ACVRL1):c.990C>G (p.Asp330Glu) GRCh37: Chr12:52309226 GRCh38: Chr12:51915442	ACVRL1	D142E, D226E, D330E	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Oct 23, 2022)	criteria provided, single submitter
Select item 203652031.	NM_000020.3(ACVRL1):c.673del (p.Ser225fs) GRCh37: Chr12:52308270 GRCh38: Chr12:51914486	ACVRL1	S225fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Oct 22, 2022)	criteria provided, single submitter
Select item 203143632.	NM_000020.3(ACVRL1):c.651del (p.Trp217fs) GRCh37: Chr12:52308247 GRCh38: Chr12:51914463	ACVRL1	W217fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 203083033.	NM_000020.3(ACVRL1):c.838_842del (p.His280fs) GRCh37: Chr12:52309074-52309078 GRCh38: Chr12:51915290-51915294	ACVRL1	H280fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 202985134.	NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg) GRCh37: Chr12:52309246 GRCh38: Chr12:51915462	ACVRL1	L337R, L233R, L149R	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 202984935.	NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter) GRCh37: Chr12:52309271 GRCh38: Chr12:51915487	ACVRL1	C345, C157, C241*	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 202640036.	NM_000020.3(ACVRL1):c.962_963del (p.Gln321fs) GRCh37: Chr12:52309198-52309199 GRCh38: Chr12:51915414-51915415	ACVRL1	Q321fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 201717837.	NM_000020.3(ACVRL1):c.1198del (p.Ala400fs) GRCh37: Chr12:52309967 GRCh38: Chr12:51916183	ACVRL1	A400fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 201209538.	NM_000020.3(ACVRL1):c.619T>G (p.Cys207Gly) GRCh37: Chr12:52307851 GRCh38: Chr12:51914067	ACVRL1	C207G	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 200160539.	NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg) GRCh37: Chr12:52309048 GRCh38: Chr12:51915264	ACVRL1	T167R, T271R, T83R	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 199972240.	NM_000020.3(ACVRL1):c.1044_1048+4dup GRCh37: Chr12:52309277-52309278 GRCh38: Chr12:51915493-51915494	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 197666841.	NM_000020.3(ACVRL1):c.974C>G (p.Ala325Gly) GRCh37: Chr12:52309210 GRCh38: Chr12:51915426	ACVRL1	A137G, A221G, A325G	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 197625342.	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 197325643.	NM_000020.3(ACVRL1):c.877del (p.Thr293fs) GRCh37: Chr12:52309113 GRCh38: Chr12:51915329	ACVRL1	T293fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Jul 20, 2022)	criteria provided, single submitter
Select item 196239844.	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 195686645.	NM_000020.3(ACVRL1):c.1359C>T (p.Asn453=) GRCh37: Chr12:52312881 GRCh38: Chr12:51919097	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 195637446.	NM_000020.3(ACVRL1):c.1161G>C (p.Thr387=) GRCh37: Chr12:52309932 GRCh38: Chr12:51916148	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 195507247.	NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser) GRCh37: Chr12:52307004 GRCh38: Chr12:51913220	ACVRL1	R61S	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Jun 16, 2021)	criteria provided, single submitter
Select item 194861948.	NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn) GRCh37: Chr12:52306934 GRCh38: Chr12:51913150	ACVRL1	S38N	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 194427149.	NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu) GRCh37: Chr12:52309280 GRCh38: Chr12:51915496	ACVRL1	D160E, D244E, D348E	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 192546950.	NM_000020.3(ACVRL1):c.525+7G>A GRCh37: Chr12:52307561 GRCh38: Chr12:51913777	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 190316751.	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 180321552.	NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln) GRCh37: Chr12:52309906 GRCh38: Chr12:51916122	ACVRL1	E191Q, E275Q, E379Q	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 180310953.	NM_000020.3(ACVRL1):c.625+1G>A GRCh37: Chr12:52307858 GRCh38: Chr12:51914074	ACVRL1		Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Jan 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 179504254.	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 178285355.	NM_000020.3(ACVRL1):c.1005T>C (p.Asn335=) GRCh37: Chr12:52309241 GRCh38: Chr12:51915457	ACVRL1		Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177264456.	NM_000020.3(ACVRL1):c.1036A>T (p.Ile346Phe) GRCh37: Chr12:52309272 GRCh38: Chr12:51915488	ACVRL1	I346F, I158F, I242F	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Jun 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176636957.	NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu) GRCh37: Chr12:52312797 GRCh38: Chr12:51919013	ACVRL1	F321L, F237L, F373L, F425L, F255L	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176424458.	NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro) GRCh37: Chr12:52309102 GRCh38: Chr12:51915318	ACVRL1	L101P, L185P, L289P	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175752259.	NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter) GRCh37: Chr12:52308314 GRCh38: Chr12:51914530	ACVRL1	W239, W51, W135*	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175747360.	NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter) GRCh37: Chr12:52308313 GRCh38: Chr12:51914529	ACVRL1	W239, W51, W135*	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175617061.	NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del) GRCh37: Chr12:52308286-52308288 GRCh38: Chr12:51914502-51914504	ACVRL1	F43del, F127del, F231del	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175607262.	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 174647163.	NM_000020.3(ACVRL1):c.526-7C>G GRCh37: Chr12:52307751 GRCh38: Chr12:51913967	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 174475264.	NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys) GRCh37: Chr12:52307529 GRCh38: Chr12:51913745	ACVRL1	S167C	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 174375765.	NM_000020.3(ACVRL1):c.1187C>T (p.Thr396Ile) GRCh37: Chr12:52309958 GRCh38: Chr12:51916174	ACVRL1	T292I, T396I, T208I	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Uncertain significance (Dec 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173261866.	NM_000020.3(ACVRL1):c.1146C>T (p.Asp382=) GRCh37: Chr12:52309917 GRCh38: Chr12:51916133	ACVRL1		Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172034667.	NM_000020.3(ACVRL1):c.1037T>G (p.Ile346Ser) GRCh37: Chr12:52309273 GRCh38: Chr12:51915489	ACVRL1	I158S, I242S, I346S	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 171496168.	NM_000020.3(ACVRL1):c.968A>C (p.Lys323Thr) GRCh37: Chr12:52309204 GRCh38: Chr12:51915420	ACVRL1	K135T, K219T, K323T	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 170564369.	NM_000020.3(ACVRL1):c.667G>C (p.Gly223Arg) GRCh37: Chr12:52308264 GRCh38: Chr12:51914480	ACVRL1	G119R, G223R, G35R	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 169894770.	NM_000020.3(ACVRL1):c.435del (p.Arg146fs) GRCh37: Chr12:52307463 GRCh38: Chr12:51913679	ACVRL1	R146fs	Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 169879471.	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 169597572.	NM_000020.3(ACVRL1):c.995A>G (p.Lys332Arg) GRCh37: Chr12:52309231 GRCh38: Chr12:51915447	ACVRL1	K332R	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Apr 8, 2022)	no assertion criteria provided
Select item 167942973.	NM_000020.3(ACVRL1):c.1377+248_1377+251dup GRCh37: Chr12:52313145-52313146 GRCh38: Chr12:51919361-51919362	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Benign (Mar 30, 2022)	criteria provided, single submitter
Select item 167859574.	NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro) GRCh37: Chr12:52308367 GRCh38: Chr12:51914583	ACVRL1	L257P	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 167385275.	NM_000020.3(ACVRL1):c.61+7A>T GRCh37: Chr12:52306326 GRCh38: Chr12:51912542	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Benign (Oct 3, 2022)	criteria provided, single submitter
Select item 167046576.	NM_000020.3(ACVRL1):c.1014C>T (p.Val338=) GRCh37: Chr12:52309250 GRCh38: Chr12:51915466	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Apr 30, 2021)	criteria provided, single submitter
Select item 164615477.	NM_000020.3(ACVRL1):c.664C>T (p.His222Tyr) GRCh37: Chr12:52308261 GRCh38: Chr12:51914477	ACVRL1	H222Y	Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 164049878.	NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn) GRCh37: Chr12:52307540 GRCh38: Chr12:51913756	ACVRL1	D171N	Telangiectasia, hereditary hemorrhagic, type 2, not provided	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 162332379.	NM_000020.3(ACVRL1):c.1450C>A (p.Arg484=) GRCh37: Chr12:52314615 GRCh38: Chr12:51920831	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Dec 1, 2020)	criteria provided, single submitter
Select item 159185680.	NM_000020.3(ACVRL1):c.372C>T (p.Gly124=) GRCh37: Chr12:52307401 GRCh38: Chr12:51913617	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Nov 26, 2020)	criteria provided, single submitter
Select item 159067981.	NM_000020.3(ACVRL1):c.813G>T (p.Thr271=) GRCh37: Chr12:52309049 GRCh38: Chr12:51915265	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Feb 13, 2021)	criteria provided, single submitter
Select item 158828282.	NM_000020.3(ACVRL1):c.314-12C>A GRCh37: Chr12:52307331 GRCh38: Chr12:51913547	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Dec 10, 2021)	criteria provided, single submitter
Select item 158789083.	NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln) GRCh37: Chr12:52314571 GRCh38: Chr12:51920787	ACVRL1	R469Q	Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 158260284.	NM_000020.3(ACVRL1):c.846C>T (p.His282=) GRCh37: Chr12:52309082 GRCh38: Chr12:51915298	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 157987285.	NM_000020.3(ACVRL1):c.933G>A (p.Ala311=) GRCh37: Chr12:52309169 GRCh38: Chr12:51915385	ACVRL1		Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157797486.	NM_000020.3(ACVRL1):c.660G>C (p.Leu220Phe) GRCh37: Chr12:52308257 GRCh38: Chr12:51914473	ACVRL1	L220F	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Likely benign (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156867387.	NM_000020.3(ACVRL1):c.246C>T (p.Thr82=) GRCh37: Chr12:52307067 GRCh38: Chr12:51913283	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Jan 29, 2021)	criteria provided, single submitter
Select item 156551388.	NM_000020.3(ACVRL1):c.1056T>C (p.Ala352=) GRCh37: Chr12:52309827 GRCh38: Chr12:51916043	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Aug 12, 2021)	criteria provided, single submitter
Select item 156106589.	NM_000020.3(ACVRL1):c.90G>A (p.Pro30=) GRCh37: Chr12:52306911 GRCh38: Chr12:51913127	ACVRL1		Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155834190.	NM_000020.3(ACVRL1):c.120T>C (p.His40=) GRCh37: Chr12:52306941 GRCh38: Chr12:51913157	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Aug 14, 2021)	criteria provided, single submitter
Select item 155072391.	NM_000020.3(ACVRL1):c.1464A>G (p.Thr488=) GRCh37: Chr12:52314629 GRCh38: Chr12:51920845	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Apr 14, 2021)	criteria provided, single submitter
Select item 154098492.	NM_000020.3(ACVRL1):c.18C>G (p.Pro6=) GRCh37: Chr12:52306276 GRCh38: Chr12:51912492	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 153236393.	NM_000020.3(ACVRL1):c.549C>A (p.Thr183=) GRCh37: Chr12:52307781 GRCh38: Chr12:51913997	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely benign (Feb 12, 2021)	criteria provided, single submitter
Select item 152789994.	NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs) GRCh37: Chr12:52312856-52312857 GRCh38: Chr12:51919072-51919073	ACVRL1	D445fs	Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 152444195.	NM_000020.3(ACVRL1):c.1247-1G>C GRCh37: Chr12:52312768 GRCh38: Chr12:51918984	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 151364596.	NM_000020.3(ACVRL1):c.758A>G (p.His253Arg) GRCh37: Chr12:52308355 GRCh38: Chr12:51914571	ACVRL1	H253R	Telangiectasia, hereditary hemorrhagic, type 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 151213997.	NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro) GRCh37: Chr12:52314616 GRCh38: Chr12:51920832	ACVRL1	R484P	Telangiectasia, hereditary hemorrhagic, type 2, Cardiovascular phenotype	Likely pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 150955298.	NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) GRCh37: Chr12:52312868 GRCh38: Chr12:51919084	ACVRL1	P449L	Cardiovascular phenotype, not provided, Telangiectasia, hereditary hemorrhagic, type 2	Conflicting interpretations of pathogenicity (Jul 7, 2022)	criteria provided, conflicting interpretations
Select item 150935099.	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 1506785100.	NM_000020.3(ACVRL1):c.1049-1G>T GRCh37: Chr12:52309819 GRCh38: Chr12:51916035	ACVRL1		Telangiectasia, hereditary hemorrhagic, type 2	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter

<< First< Prev

Page of 7