C1838163[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161202	NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	ACVRL1 (P30S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 982450	NM_000020.3(ACVRL1):c.139dup (p.Arg47fs)	ACVRL1 (R47fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 212803	NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	ACVRL1 (R67Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 982454	NM_000020.3(ACVRL1):c.259del (p.His87fs)	ACVRL1 (H87fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 212798	NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)	ACVRL1 (C90Y)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 982485	NM_000020.3(ACVRL1):c.375dup (p.Val126fs)	ACVRL1 (V126fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 982486	NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter)	ACVRL1 (E159*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 982487	NM_000020.3(ACVRL1):c.626-2A>G	ACVRL1	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 8253	NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)	ACVRL1 (G211D)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic/Likely pathogenic
Select item 982488	NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)	ACVRL1 (T277R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic/Likely pathogenic
Select item 941644	NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)	ACVRL1 (T277K)	Single nucleotide variant (missense variant)	ACVRL1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 982489	NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val)	ACVRL1 (G283V)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 617959	NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)	ACVRL1 (L302P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 982490	NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr)	ACVRL1	Insertion (inframe_indel)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 982491	NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)	ACVRL1 (E316D)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GConflicting classifications of pathogenicity
Select item 656236	NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)	ACVRL1 (C344R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 982444	NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)	ACVRL1	Deletion (inframe_indel)	Telangiectasia, hereditary hemorrhagic, type 2	GConflicting classifications of pathogenicity
Select item 982445	NM_000020.3(ACVRL1):c.1041del (p.Asp348fs)	ACVRL1 (D348fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 8249	NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	ACVRL1 (R374W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 982446	NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu)	ACVRL1 (I385L)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 982447	NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter)	ACVRL1 (E391*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 8251	NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	ACVRL1 (R411W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 8243	NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	ACVRL1 (R411Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
Select item 982448	NM_000020.3(ACVRL1):c.1246+5G>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 982449	NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His)	ACVRL1 (P433H)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 835099	NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)	ACVRL1 (P476R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 372722	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1 (R479*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 982451	NM_000020.3(ACVRL1):c.1448del (p.Leu483fs)	ACVRL1 (L483fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 8252	NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)	ACVRL1 (R484W)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia +4 more	GPathogenic
Select item 812855	NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu)	ACVRL1 (R484L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 212796	NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)	ACVRL1 (R484Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +5 more	GPathogenic
Select item 982452	NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)	ACVRL1 (K487del)	Microsatellite (inframe_deletion)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 982453	NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln)	ACVRL1 (K487Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 426040	NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	ACVRL1 (Q490*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database

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Items: 34