"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC102723566"[ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213213	NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)	ENG, LOC102723566 (L572* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 407125	NM_001114753.3(ENG):c.1702G>A (p.Val568Ile)	ENG, LOC102723566 (V568I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
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 407135	NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)	LOC102723566, ENG (C549Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 213215	NM_001114753.3(ENG):c.1550_1551del (p.Val517fs)	ENG, LOC102723566 (V517fs +1 more)	Microsatellite (frameshift variant)	not provided +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 572526	NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs)	LOC102723566, ENG (S267fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +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 458335	NM_001114753.3(ENG):c.1311G>C (p.Arg437=)	LOC102723566, ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 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 1163031	NM_001114753.3(ENG):c.1240A>T (p.Met414Leu)	ENG, LOC102723566 (M232L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 407136	NM_001114753.3(ENG):c.1199del (p.Gly400fs)	LOC102723566, ENG (G218fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic