94[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 811884	NC_000012.12:g.51907469G>C	ACVRL1	Single nucleotide variant (genic upstream transcript variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 309435	NM_000020.2(ACVRL1):c.-202C>G	ACVRL1	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 309436	NM_000020.3(ACVRL1):c.-194A>C	ACVRL1	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 881402	NM_000020.3(ACVRL1):c.-168G>C	ACVRL1	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 309437	NM_000020.3(ACVRL1):c.-129G>A	ACVRL1	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 309438	NM_000020.3(ACVRL1):c.-58G>A	ACVRL1	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 309439	NM_000020.3(ACVRL1):c.-52G>A	ACVRL1	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 212792	NM_000020.3(ACVRL1):c.-46C>G	ACVRL1	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign
Select item 1271094	NM_000020.3(ACVRL1):c.-5-468C>T	ACVRL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174347	NM_000020.3(ACVRL1):c.-5-465A>G	ACVRL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810906	NM_000020.3(ACVRL1):c.-5-227C>G	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 811874	NM_000020.3(ACVRL1):c.-5-59C>T	ACVRL1	Single nucleotide variant (5 prime UTR variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 136292	NM_000020.3(ACVRL1):c.-5-33C>T	ACVRL1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 2578683	NM_000020.3(ACVRL1):c.-5-17C>T	ACVRL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 657392	NC_000012.12:g.(?_51912465)_(51920903_?)del	ACVRL1	Deletion	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 444295	NM_000020.3(ACVRL1):c.-4G>T	ACVRL1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 850758	NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile)	ACVRL1 (T2I)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 698538	NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1782276	NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)	ACVRL1 (R7fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1540984	NM_000020.3(ACVRL1):c.18C>G (p.Pro6=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1161010	NM_000020.3(ACVRL1):c.24A>G (p.Lys8=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
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 1739546	NM_000020.3(ACVRL1):c.42G>C (p.Leu14=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1673852	NM_000020.3(ACVRL1):c.61+7A>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 2849898	NM_000020.3(ACVRL1):c.61+14G>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 439370	NM_000020.3(ACVRL1):c.61+22A>G	ACVRL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1226999	NM_000020.3(ACVRL1):c.62-196C>G	ACVRL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811494	NM_000020.3(ACVRL1):c.62-69G>T	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 2042115	NM_000020.3(ACVRL1):c.62-9G>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
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 753239	NM_000020.3(ACVRL1):c.69T>C (p.Pro23=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GLikely benign
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 698484	NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu)	ACVRL1 (P26L)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
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 697456	NM_000020.3(ACVRL1):c.78G>A (p.Pro26=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign/Likely benign
Select item 806890	NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp)	ACVRL1 (R28W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 847246	NM_000020.3(ACVRL1):c.86del (p.Gly29fs)	ACVRL1 (G29fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1210058	NM_000020.3(ACVRL1):c.87C>T (p.Gly29=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 161202	NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	ACVRL1 (P30S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 1561065	NM_000020.3(ACVRL1):c.90G>A (p.Pro30=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1768880	NM_000020.3(ACVRL1):c.99C>G (p.Thr33=)	ACVRL1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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 1776631	NM_000020.3(ACVRL1):c.104C>T (p.Thr35Met)	ACVRL1 (T35M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1786073	NM_000020.3(ACVRL1):c.107G>A (p.Cys36Tyr)	ACVRL1 (C36Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1082795	NM_000020.3(ACVRL1):c.111G>A (p.Glu37=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GLikely benign
Select item 1727837	NM_000020.3(ACVRL1):c.112A>T (p.Ser38Cys)	ACVRL1 (S38C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1948619	NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)	ACVRL1 (S38N)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance FDA Recognized database
Select item 3222691	NM_000020.3(ACVRL1):c.114C>T (p.Ser38=)	ACVRL1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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 1558341	NM_000020.3(ACVRL1):c.120T>C (p.His40=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 1379165	NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del)	ACVRL1	Deletion (inframe_deletion)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
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 533345	NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser)	ACVRL1 (C46S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1338955	NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp)	ACVRL1 (R47W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 +4 more	GPathogenic
Select item 2643006	NM_000020.3(ACVRL1):c.140G>A (p.Arg47Gln)	ACVRL1 (R47Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 156349	NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro)	ACVRL1 (A49P)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	Gnot provided
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 1381345	NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly)	ACVRL1 (C51G)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 212797	NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)	ACVRL1 (C51Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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