"Genetics, Medical University of Vienna"[submitter] AND "LOC102723566" - ClinVar

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	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