"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACVRL1"[g - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 212805	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)	ACVRL1 (A49fs)	Duplication (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 426010	NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	ACVRL1 (R67W)	Single nucleotide variant (missense variant)	Abnormality of the pulmonary vasculature +4 more	GPathogenic/Likely pathogenic
Select item 411299	NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe)	ACVRL1 (C89F)	Single nucleotide variant (missense variant)	ACVRL1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 136293	NM_000020.3(ACVRL1):c.313+11C>T	ACVRL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 254710	NM_000020.3(ACVRL1):c.314-35A>G	ACVRL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 212791	NM_000020.3(ACVRL1):c.330G>A (p.Ser110=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign
Select item 212806	NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)	ACVRL1 (G136fs)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 696582	NM_000020.3(ACVRL1):c.543C>T (p.Asp181=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GBenign/Likely benign
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 212793	NM_000020.3(ACVRL1):c.747G>A (p.Val249=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GBenign
Select item 254712	NM_000020.3(ACVRL1):c.772+27G>C	ACVRL1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 533355	NM_000020.3(ACVRL1):c.817C>T (p.Leu273=)	ACVRL1	Single nucleotide variant (synonymous variant)	ACVRL1-related disorder +2 more	GBenign/Likely benign
Select item 941644	NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)	ACVRL1 (T277K)	Single nucleotide variant (missense variant)	ACVRL1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2061596	NM_000020.3(ACVRL1):c.897T>C (p.Ala299=)	ACVRL1	Single nucleotide variant (synonymous variant)	ACVRL1-related disorder +1 more	GLikely benign
Select item 659095	NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr)	ACVRL1 (C345Y)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +3 more	GUncertain significance
Select item 842531	NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)	ACVRL1 (H355P)	Single nucleotide variant (missense variant)	ACVRL1-related disorder +1 more	GUncertain significance
Select item 1074703	NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)	ACVRL1 (Q357*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 8249	NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	ACVRL1 (R374W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 416701	NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2 +3 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)	not specified +1 more	GBenign
Select item 533343	NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)	ACVRL1 (M438T)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GLikely pathogenic
Select item 373609	NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)	ACVRL1 (T450A)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 254709	NM_000020.3(ACVRL1):c.1377+45T>C	ACVRL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 811605	NM_000020.3(ACVRL1):c.1378-216C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GBenign/Likely benign
Select item 3031417	NM_000020.3(ACVRL1):c.1378-128G>A	ACVRL1	Single nucleotide variant (intron variant)	ACVRL1-related disorder	GLikely benign
Select item 2630237	NM_000020.3(ACVRL1):c.1436_1440dup (p.Thr481fs)	ACVRL1 (T293fs +4 more)	Duplication (frameshift variant)	ACVRL1-related disorder	GLikely pathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31