"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982458	NC_000009.12:g.127814980_127830815del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982457	NC_000009.12:g.127814982_127820052del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 161229	NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	ENG (S615L +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 812850	NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu)	ENG, LOC102723566 (D396E +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812851	NM_001114753.3(ENG):c.1727_1732del (p.Ser576_Asp578delinsAsn)	ENG, LOC102723566	Deletion (non-coding transcript variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 414310	NM_001114753.3(ENG):c.1712G>A (p.Arg571His)	ENG, LOC102723566 (R571H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +4 more	GLikely benign
Select item 982469	NM_001114753.3(ENG):c.1626del (p.Thr544fs)	ENG, LOC102723566 (T362fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982468	NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs)	ENG, LOC102723566 (P346fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982467	NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)	LOC102723566, ENG (E323* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 982466	NM_001114753.3(ENG):c.1490dup (p.Leu497fs)	ENG, LOC102723566 (L315fs +1 more)	Duplication (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983201	NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)	ENG, LOC102723566 (L313P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 842548	NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)	ENG, LOC102723566 (D309fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic/Likely pathogenic
Select item 983199	NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs)	ENG, LOC102723566 (F304fs +1 more)	Duplication (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983198	NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)	ENG, LOC102723566 (Q289* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GPathogenic
Select item 983197	NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter)	LOC102723566, ENG (Q280* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
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 983194	NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)	ENG, LOC102723566 (D264G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 426043	NM_001114753.3(ENG):c.1334del (p.Met445fs)	ENG, LOC102723566 (M263fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983195	NM_001114753.3(ENG):c.1311+5G>C	ENG, LOC102723566	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 439662	NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)	ENG, LOC102723566 (Q436* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 982496	NM_001114753.3(ENG):c.1273-2A>T	ENG, LOC102723566	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982495	NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)	ENG, LOC102723566 (N241S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 982494	NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp)	ENG, LOC102723566 (G231D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
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 982493	NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter)	ENG, LOC102723566 (E213* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 639827	NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)	ENG, LOC102723566 (F207del +1 more)	Deletion (inframe_deletion +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic/Likely pathogenic
Select item 982461	NM_001114753.3(ENG):c.220-988_1134+331del	ENG	Deletion (splice acceptor variant +2 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982460	NM_001114753.3(ENG):c.220-226_1134+331del	ENG	Deletion (splice acceptor variant +2 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
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 618084	NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)	ENG (P340L +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
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 982463	NM_001114753.3(ENG):c.220-225_991+123del	ENG	Deletion (splice acceptor variant +2 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982462	NM_001114753.3(ENG):c.523+229_991+123del	ENG	Deletion (splice acceptor variant +2 more)	Telangiectasia, hereditary hemorrhagic, type 1	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 983207	NM_001114753.3(ENG):c.967_968del (p.Val323fs)	ENG (V141fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983206	NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	ENG (A126D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 982484	NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)	ENG (L118fs +1 more)	Indel (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
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 982483	NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)	ENG (L117R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GLikely pathogenic
Select item 982482	NM_001114753.3(ENG):c.817-1G>A	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1	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 982481	NM_001114753.3(ENG):c.776T>G (p.Val259Gly)	ENG (V259G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 949536	NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)	ENG (Y76* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
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 982479	NM_001114753.3(ENG):c.761_767dup (p.Pro257fs)	ENG (P257fs +1 more)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982478	NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)	ENG (G255C +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 449319	NM_001114753.3(ENG):c.736del (p.Asp246fs)	ENG (D246fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 982477	NM_001114753.3(ENG):c.690-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982456	NM_001114753.3(ENG):c.524-1_689+1del	ENG	Deletion (splice acceptor variant +2 more)	Telangiectasia, hereditary hemorrhagic, type 1	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 982476	NM_001114753.3(ENG):c.667dup (p.Val223fs)	ENG (V223fs +1 more)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982475	NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)	ENG (K216E +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 983205	NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)	ENG (C207Y +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 213200	NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)	ENG (G191D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign FDA Recognized database
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 983210	NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)	ENG	Microsatellite (inframe_insertion +2 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely 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 983209	NM_001114753.3(ENG):c.496del (p.Gln166fs)	ENG (Q166fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 414312	NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)	ENG (P130S)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GBenign/Likely benign
Select item 983203	NM_001114753.3(ENG):c.370del (p.Leu124fs)	ENG (L124fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
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 16671	NM_001114753.3(ENG):c.360+4A>G	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GLikely 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 983202	NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)	ENG (Q110*)	Single nucleotide variant (nonsense +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 982473	NM_001114753.3(ENG):c.298_299del (p.Ser100fs)	ENG (S100fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	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 982472	NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)	ENG (L80P)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 982464	NM_001114753.3(ENG):c.68-4227_219+104del	ENG	Deletion (splice acceptor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 237026	NM_001114753.3(ENG):c.219+22C>T	ENG	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 982471	NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)	ENG (E70*)	Single nucleotide variant (nonsense +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	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 982470	NM_001114753.3(ENG):c.164del (p.Ala55fs)	ENG (A55fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	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 618085	NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	ENG (G52D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 983200	NM_001114753.3(ENG):c.146del (p.Val49fs)	ENG (V49fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982474	NM_001114753.3(ENG):c.63dup (p.Thr22fs)	ENG (T22fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983208	NM_001114753.3(ENG):c.39del (p.Leu14fs)	ENG (L14fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 836897	NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)	ENG (L12P)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GUncertain significance
Select item 374952	NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)	ENG (R3C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 407131	NM_001114753.3(ENG):c.1A>G (p.Met1Val)	ENG (M1V)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
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 982465	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982459	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic

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Items: 86