C1838163[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 8254	NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)	ACVRL1 (C344Y)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic
Select item 411314	NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)	ACVRL1 (R374Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1369732	NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)	ACVRL1 (A400D)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GLikely pathogenic
Select item 1032139	NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)	ACVRL1 (G416A)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File