C4551861[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810423	NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)	ENG (T617M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 839929	NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)	ENG, LOC102723566	Deletion (non-coding transcript variant)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 1343355	NM_001114753.3(ENG):c.1686+1G>T	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 583144	NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)	ENG, LOC102723566 (R529C +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +4 more	GConflicting classifications of pathogenicity
Select item 16670	NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)	ENG, LOC102723566 (S336fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 960198	NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)	ENG, LOC102723566 (K331R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 578331	NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs)	ENG, LOC102723566 (R296fs +1 more)	Microsatellite (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 1163030	NM_001114753.3(ENG):c.1429-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 213216	NM_001114753.3(ENG):c.1428+1G>A	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 983196	NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)	ENG, LOC102723566 (Y273* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 528065	NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)	ENG, LOC102723566 (V440G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 458328	NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	ENG	Single nucleotide variant (synonymous variant)	ENG-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 213214	NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)	ENG (T361fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic/Likely pathogenic
Select item 663310	NM_001114753.3(ENG):c.992-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 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 871270	NM_001114753.3(ENG):c.943G>A (p.Val315Met)	ENG (V133M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 618623	NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	ENG (L300P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 982480	NM_001114753.3(ENG):c.772del (p.Tyr258fs)	ENG (Y258fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 419981	NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	ENG (S59fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 220826	NM_001114753.3(ENG):c.640_643del (p.Gly214fs)	ENG (G214fs +1 more)	Microsatellite (frameshift variant)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 407119	NM_001114753.3(ENG):c.524-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 641795	NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	ENG (A175S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 439644	NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)	ENG (R171*)	Single nucleotide variant (nonsense +1 more)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 983204	NM_001114753.3(ENG):c.496dup (p.Gln166fs)	ENG (Q166fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 834356	NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)	ENG (Q166P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 237027	NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	ENG (W149C)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 810952	NM_001114753.3(ENG):c.360+5G>A	ENG	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 265370	NM_001114753.3(ENG):c.360+1G>A	ENG	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 265371	NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG (R93*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 660455	NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)	ENG (Q56*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 572196	NM_001114753.3(ENG):c.145G>T (p.Val49Phe)	ENG (V49F)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 937410	NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)	ENG (Q48*)	Single nucleotide variant (nonsense +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 449321	NM_001114753.3(ENG):c.67+1G>A	ENG	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 414302	NM_001114753.3(ENG):c.-9G>A	ENG	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
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
Select item 1120158	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120157	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120156	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120155	Single allele	ENG	Duplication	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 372722	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1 (R479*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic

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Items: 41