ClinVar for PubMed (Select 20656886) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 964747	NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs)	ENG (T193fs +1 more)	Indel (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 964530	NM_001114753.3(ENG):c.527del (p.Gln176fs)	ENG (Q176fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 961840	NM_001114753.3(ENG):c.1333dup (p.Met445fs)	ENG, LOC102723566 (M263fs +1 more)	Duplication (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 956837	NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)	ENG, LOC102723566 (S484fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 953588	NM_001114753.3(ENG):c.674del (p.Pro225fs)	ENG (P225fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 952675	NM_001114753.3(ENG):c.468del (p.Thr157fs)	ENG (T157fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 946806	NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)	ENG (C53*)	Single nucleotide variant (nonsense +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 946406	NM_001114753.3(ENG):c.752_768del (p.Leu251fs)	ENG (L69fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 944925	NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)	ENG (S260fs +1 more)	Microsatellite (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 943127	NM_001114753.3(ENG):c.766_776del (p.Pro256fs)	ENG (P74fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 939701	NM_001114753.3(ENG):c.1238del (p.Gly413fs)	ENG, LOC102723566 (G231fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 937701	NM_001114753.3(ENG):c.689+2T>A	ENG	Single nucleotide variant (splice donor variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 937410	NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)	ENG (Q48*)	Single nucleotide variant (nonsense +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 854273	NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)	ENG, LOC102723566 (L315* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 852561	NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)	ENG (L209* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 848437	NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)	ENG, LOC102723566 (C230* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 843258	NM_001114753.3(ENG):c.461dup (p.Ile156fs)	ENG (I156fs)	Duplication (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 842548	NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)	ENG, LOC102723566 (D309fs +1 more)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 831423	NC_000009.12:g.(?_127824294)_(127825367_?)dup	ENG	Duplication	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 665098	NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter)	ENG (S146* +1 more)	Indel (nonsense)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 664833	NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)	ENG (E94*)	Single nucleotide variant (nonsense +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 663715	NM_001114753.3(ENG):c.397del (p.Val133fs)	ENG (V133fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 663310	NM_001114753.3(ENG):c.992-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 663306	NM_001114753.3(ENG):c.562dup (p.Gln188fs)	ENG (Q188fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 662789	NM_001114753.3(ENG):c.991+2T>G	ENG	Single nucleotide variant (splice donor variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 661985	NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter)	ENG, LOC102723566 (E485* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 661834	NM_001114753.3(ENG):c.689+1G>A	ENG	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 646817	NM_001114753.3(ENG):c.776del (p.Val259fs)	ENG (V259fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 645811	NM_001114753.3(ENG):c.488_491del (p.Asn163fs)	ENG (N163fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 642861	NM_001114753.3(ENG):c.1247dup (p.Ser417fs)	ENG, LOC102723566 (S235fs +1 more)	Duplication (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 640315	NM_001114753.3(ENG):c.743del (p.Asp248fs)	ENG (D66fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 583087	NM_001114753.3(ENG):c.572del (p.Gly191fs)	ENG (G9fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 579815	NM_001114753.3(ENG):c.911_918del (p.Arg304fs)	ENG (R304fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 578951	NM_001114753.3(ENG):c.1A>C (p.Met1Leu)	ENG (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 577612	NM_001114753.3(ENG):c.1515dup (p.Leu506fs)	ENG, LOC102723566 (L324fs +1 more)	Duplication (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 572526	NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs)	LOC102723566, ENG (S267fs +1 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 570772	NM_001114753.3(ENG):c.621C>A (p.Cys207Ter)	ENG (C207* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 528071	NM_001114753.3(ENG):c.683C>A (p.Ser228Ter)	ENG (S228* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 528070	NM_001114753.3(ENG):c.1394dup (p.Asn465fs)	ENG, LOC102723566 (N283fs +1 more)	Duplication (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 528066	NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs)	ENG, LOC102723566 (Q290fs +1 more)	Indel (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 528057	NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter)	ENG (Q342* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 458344	NM_001114753.3(ENG):c.229del (p.Gln77fs)	ENG (Q77fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 458343	NM_001114753.3(ENG):c.219+1G>A	ENG	Single nucleotide variant (splice donor variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 453196	NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)	ENG, LOC102723566 (C442* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 426044	NM_001114753.3(ENG):c.1410del (p.Gln471fs)	ENG, LOC102723566 (Q289fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 407118	NM_001114753.3(ENG):c.1327del (p.Leu443fs)	ENG, LOC102723566 (L443fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	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 284669	NM_001114753.3(ENG):c.880_881del (p.Asp294fs)	ENG (D112fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from PubMed

Items: 48