"Genome-Nilou Lab"[submitter] AND "ACVRL1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 810906	NM_000020.3(ACVRL1):c.-5-227C>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign
Select item 136292	NM_000020.3(ACVRL1):c.-5-33C>T	ACVRL1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 439370	NM_000020.3(ACVRL1):c.61+22A>G	ACVRL1	Single nucleotide variant (intron variant)	not specified +2 more	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 309440	NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign
Select item 136293	NM_000020.3(ACVRL1):c.313+11C>T	ACVRL1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 811495	NM_000020.3(ACVRL1):c.314-65G>C	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 254710	NM_000020.3(ACVRL1):c.314-35A>G	ACVRL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 212791	NM_000020.3(ACVRL1):c.330G>A (p.Ser110=)	ACVRL1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 439376	NM_000020.3(ACVRL1):c.625+110_625+130del	ACVRL1	Deletion (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign
Select item 439375	NM_000020.3(ACVRL1):c.625+164T>C	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439371	NM_000020.3(ACVRL1):c.626-53C>T	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 254711	NM_000020.3(ACVRL1):c.642C>T (p.Gly214=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 802861	NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)	ACVRL1 (R218W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 883001	NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 212793	NM_000020.3(ACVRL1):c.747G>A (p.Val249=)	ACVRL1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 696927	NM_000020.3(ACVRL1):c.759C>T (p.His253=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1167050	NM_000020.3(ACVRL1):c.772+24C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign/Likely benign
Select item 533355	NM_000020.3(ACVRL1):c.817C>T (p.Leu273=)	ACVRL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 515939	NM_000020.3(ACVRL1):c.993C>T (p.Phe331=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GBenign/Likely benign
Select item 254706	NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 254708	NM_000020.3(ACVRL1):c.1246+9C>T	ACVRL1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 254707	NM_000020.3(ACVRL1):c.1246+19C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign
Select item 379523	NM_000020.3(ACVRL1):c.1247-15A>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign/Likely benign
Select item 254709	NM_000020.3(ACVRL1):c.1377+45T>C	ACVRL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 439373	NM_000020.3(ACVRL1):c.1377+65A>G	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 811663	NM_000020.3(ACVRL1):c.1377+326G>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign
Select item 810907	NM_000020.3(ACVRL1):c.1378-405A>G	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 993782	NM_000020.3(ACVRL1):c.1378-339T>G	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 810920	NM_000020.3(ACVRL1):c.1378-248del	ACVRL1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 678439	NM_000020.3(ACVRL1):c.1378-248T>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign
Select item 811572	NM_000020.3(ACVRL1):c.1378-217A>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign
Select item 811605	NM_000020.3(ACVRL1):c.1378-216C>T	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 810856	NM_000020.3(ACVRL1):c.1378-155T>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GBenign
Select item 439374	NM_000020.3(ACVRL1):c.1378-30T>C	ACVRL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 161201	NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)	ACVRL1 (A482V)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 309445	NM_000020.3(ACVRL1):c.*58G>A	ACVRL1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign

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Items: 38