"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "LOC1027 - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 237022	NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)	ENG, LOC102723566 (G545S +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +5 more	GConflicting classifications of pathogenicity
Select item 1678625	NM_001114753.3(ENG):c.1614_1615del (p.Val539fs)	ENG, LOC102723566 (V357fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 383511	NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)	LOC102723566, ENG (Q489* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic/Likely pathogenic
Select item 1163030	NM_001114753.3(ENG):c.1429-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 962612	NM_001114753.3(ENG):c.1311+5G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely pathogenic
Select item 2136817	NM_001114753.3(ENG):c.1311+2T>C	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Hereditary hemorrhagic telangiectasia	GPathogenic/Likely pathogenic
Select item 618082	NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)	ENG, LOC102723566 (R437W +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic/Likely pathogenic
Select item 3068568	NM_001114753.3(ENG):c.1280T>G (p.Val427Gly)	ENG, LOC102723566 (V245G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic