C4551861[trait identifier] AND "Genetics, Medical University of Vienna - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 444099	NM_001114753.3(ENG):c.1479C>A (p.Cys493Ter)	ENG, LOC102723566 (C493* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 439662	NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)	ENG, LOC102723566 (Q436* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 444098	NM_001114753.3(ENG):c.816+1G>A	ENG	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 444102	NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)	ACVRL1 (C34fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
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 444101	NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)	ACVRL1 (G258S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 444103	NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)	ACVRL1 (G402S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 372722	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1 (R479*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic