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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 657392	NC_000012.12:g.(?_51912465)_(51920903_?)del	ACVRL1	Deletion	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1782276	NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)	ACVRL1 (R7fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 426009	NM_000020.3(ACVRL1):c.37del (p.Leu13fs)	ACVRL1 (L13fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	GPathogenic
Select item 411301	NM_000020.3(ACVRL1):c.41dup (p.Met15fs)	ACVRL1 (M15fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1458200	NM_000020.3(ACVRL1):c.50dup (p.Leu17fs)	ACVRL1 (L17fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2582605	NM_000020.3(ACVRL1):c.55dup (p.Thr19fs)	ACVRL1 (T19fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 533342	NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter)	ACVRL1 (Q20*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2136051	NM_000020.3(ACVRL1):c.61+1G>T	ACVRL1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1962398	NM_000020.3(ACVRL1):c.61+1G>A	ACVRL1	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 1752360	NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG	ACVRL1	Indel (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 533360	NC_000012.12:g.(?_51913079)_(51913790_?)del	ACVRL1	Deletion	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1754408	NM_000020.3(ACVRL1):c.65del (p.Asp22fs)	ACVRL1 (D22fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1330267	NM_000020.3(ACVRL1):c.68del (p.Pro23fs)	ACVRL1 (P23fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1757184	NM_000020.3(ACVRL1):c.71_93del (p.Val24fs)	ACVRL1 (V24fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 811218	NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs)	ACVRL1 (K25fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1758713	NM_000020.3(ACVRL1):c.73A>T (p.Lys25Ter)	ACVRL1 (K25*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1758744	NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)	ACVRL1	Indel (nonsense +1 more)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 1072475	NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs)	ACVRL1 (S27fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 847246	NM_000020.3(ACVRL1):c.86del (p.Gly29fs)	ACVRL1 (G29fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 444102	NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)	ACVRL1 (C34fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2982311	NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser)	ACVRL1 (C34S)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1903167	NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg)	ACVRL1 (C34R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1756072	NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)	ACVRL1 (C34Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 949903	NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)	ACVRL1 (C34*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 495052	NM_000020.3(ACVRL1):c.105del (p.Cys36fs)	ACVRL1 (C36fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1066979	NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg)	ACVRL1 (C36R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 1072776	NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)	ACVRL1 (P39fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 1070651	NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly)	ACVRL1 (C41G)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 859439	NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr)	ACVRL1 (C41Y)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 962679	NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)	ACVRL1 (P44fs)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1770127	NM_000020.3(ACVRL1):c.133_148del (p.Thr45fs)	ACVRL1 (T45fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1359265	NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs)	ACVRL1 (P44fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1767713	NM_000020.3(ACVRL1):c.128_132del (p.Gly43fs)	ACVRL1 (G43fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1769388	NM_000020.3(ACVRL1):c.130_146delinsTGCACAGTAGTG (p.Pro44fs)	ACVRL1 (P44fs)	Indel (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1074142	NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs)	ACVRL1 (C46fs)	Insertion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1976253	NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs)	ACVRL1 (C46fs)	Indel (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 982450	NM_000020.3(ACVRL1):c.139dup (p.Arg47fs)	ACVRL1 (R47fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 503681	NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)	ACVRL1 (R47fs)	Insertion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 212805	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)	ACVRL1 (A49fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2 +3 more	GPathogenic
Select item 568436	NM_000020.3(ACVRL1):c.145del (p.Ala49fs)	ACVRL1 (A49fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 381525	NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)	ACVRL1 (R47P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 1382311	NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg)	ACVRL1 (G48R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 156350	NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)	ACVRL1 (G48E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 8247	NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro)	ACVRL1	Indel (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1509350	NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly)	ACVRL1 (W50G)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 464760	NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)	ACVRL1 (W50R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GLikely pathogenic
Select item 1459447	NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys)	ACVRL1 (W50C)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 8246	NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)	ACVRL1 (W50C)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic
Select item 2132509	NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)	ACVRL1 (C51S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 212797	NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)	ACVRL1 (C51Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1775004	NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro)	ACVRL1 (T52P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1779775	NM_000020.3(ACVRL1):c.177_180dup (p.Arg61fs)	ACVRL1 (R61fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2687473	NM_000020.3(ACVRL1):c.180del (p.Arg61fs)	ACVRL1 (R61fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 411312	NM_000020.3(ACVRL1):c.183del (p.Arg61fs)	ACVRL1 (R61fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 411306	NM_000020.3(ACVRL1):c.190del (p.Gln64fs)	ACVRL1 (Q64fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2831793	NM_000020.3(ACVRL1):c.191dup (p.Glu65fs)	ACVRL1 (E65fs)	Duplication (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 643072	NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter)	ACVRL1 (Q64*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1407067	NM_000020.3(ACVRL1):c.193del (p.Glu65fs)	ACVRL1 (E65fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 1455057	NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter)	ACVRL1 (E65*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 2819838	NM_000020.3(ACVRL1):c.199del (p.Arg67fs)	ACVRL1 (R67fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1163055	NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly)	ACVRL1 (R67G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 426010	NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	ACVRL1 (R67W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +4 more	GPathogenic/Likely pathogenic
Select item 444100	NM_000020.3(ACVRL1):c.200G>C (p.Arg67Pro)	ACVRL1 (R67P)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 212803	NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	ACVRL1 (R67Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2718224	NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)	ACVRL1 (C69G)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 1330268	NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg)	ACVRL1 (C69R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 935121	NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr)	ACVRL1 (C69Y)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 533353	NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)	ACVRL1 (C69F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 938281	NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter)	ACVRL1 (C69*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 1785897	NM_000020.3(ACVRL1):c.210_213delinsAAA (p.Leu72fs)	ACVRL1 (L72fs)	Indel (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1403776	NM_000020.3(ACVRL1):c.223del (p.Glu75fs)	ACVRL1 (E75fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 933484	NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter)	ACVRL1 (E75*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1789243	NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg)	ACVRL1 (C77R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 951985	NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp)	ACVRL1 (C77W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 644908	NM_000020.3(ACVRL1):c.237dup (p.Arg80fs)	ACVRL1 (R80fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 838856	NM_000020.3(ACVRL1):c.237del (p.Arg80fs)	ACVRL1 (R80fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 533350	NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)	ACVRL1 (G79E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 1790556	NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs)	ACVRL1 (T82fs)	Insertion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 982454	NM_000020.3(ACVRL1):c.259del (p.His87fs)	ACVRL1 (H87fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 618515	NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)	ACVRL1 (Y88*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 533352	NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly)	ACVRL1 (C89G)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 439381	NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)	ACVRL1 (C89R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 652880	NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp)	ACVRL1 (C89W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 652184	NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe)	ACVRL1 (C90F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 212798	NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)	ACVRL1 (C90Y)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1795042	NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)	ACVRL1 (C90W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 654296	NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)	ACVRL1 (C90*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 439378	NM_000020.3(ACVRL1):c.271del (p.Asp91fs)	ACVRL1 (D91fs)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 2506586	NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del)	ACVRL1	Deletion (inframe_deletion +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2762912	NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)	ACVRL1 (N96H)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1698794	NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp)	ACVRL1 (N96D)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 1797148	NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser)	ACVRL1 (N96S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 426959	NM_000020.3(ACVRL1):c.295_299del (p.Val99fs)	ACVRL1 (V99fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2748217	NM_000020.3(ACVRL1):c.303_313+2del	ACVRL1	Deletion (splice donor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 420920	NM_000020.3(ACVRL1):c.302del (p.Leu101fs)	ACVRL1 (L101fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1727739	NM_000020.3(ACVRL1):c.310G>T (p.Glu104Ter)	ACVRL1 (E104*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1727954	NM_000020.3(ACVRL1):c.313_313+1del	ACVRL1	Deletion (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2692849	NM_000020.3(ACVRL1):c.313+1G>C	ACVRL1	Single nucleotide variant (splice donor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1458740	NM_000020.3(ACVRL1):c.313+1G>A	ACVRL1	Single nucleotide variant (splice donor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 464761	NM_000020.3(ACVRL1):c.313+1G>T	ACVRL1	Single nucleotide variant (splice donor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic

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