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

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Items: 25

	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 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

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Items: 25