C4551861[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439644	NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)	ENG (R171*)	Single nucleotide variant (nonsense +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 1803253	NM_001114753.3(ENG):c.111del (p.Glu38fs)	ENG (E38fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 407113	NM_001114753.3(ENG):c.-127C>T	ENG	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GPathogenic/Likely pathogenic

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