C4551861[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995686	NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)	ENG, LOC102723566 (C367G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
Select item 862475	NM_001114753.3(ENG):c.1470dup (p.Asp491fs)	ENG, LOC102723566 (D491fs +1 more)	Duplication (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 383511	NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)	ENG, LOC102723566 (Q489* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +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 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 429544	NM_001114753.3(ENG):c.1195del (p.Arg399fs)	ENG, LOC102723566 (R217fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 407115	NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	ENG (G331S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 1699196	NM_001114753.3(ENG):c.974T>G (p.Leu325Arg)	ENG (L143R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 1678571	NM_001114753.3(ENG):c.934del (p.Ala312fs)	ENG (A130fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 458355	NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	ENG (Q270* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 949536	NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)	ENG (Y76* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 656930	NM_001114753.3(ENG):c.771del (p.Tyr258fs)	ENG (Y76fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 1436577	NM_001114753.3(ENG):c.503T>A (p.Ile168Asn)	ENG (I168N)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 265371	NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG (R93*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 372722	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1 (R479*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1805408	NM_000021.4(PSEN1):c.308T>A (p.Val103Asp)	PSEN1 (V103D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic