List of variants in gene ACVRL1 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 45

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)	rs1060503248	0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)	rs1131691686	0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284	0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)	rs1085307426	0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)	rs121909288	0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	rs1085307405	0.00001
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)	rs28936688
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)	rs1085307415
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.1144del (p.Asp382fs)	rs1565595009
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)	rs1057521203
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	rs121909287
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser)	rs1592225112
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu)	rs1555153848
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)	rs1085307422
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)	rs1555154144
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	rs1057517944
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)	rs863223408
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	rs863223414
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)	rs775754117
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)	rs1555152520
NM_000020.3(ACVRL1):c.271del (p.Asp91fs)	rs1555152526
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)	rs863223416
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs)	rs2139067412
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	rs758683062
NM_000020.3(ACVRL1):c.525+1G>A	rs1555152710
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)	rs1318446539
NM_000020.3(ACVRL1):c.626-3C>G	rs1555152899
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)	rs28936687
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs)	rs1940782251
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)	rs387906391
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)	rs762773076
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs)	rs1592221459
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs)	rs1555152955
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)	rs387906393
NM_000020.3(ACVRL1):c.772+1G>C	rs1940785759
NM_000020.3(ACVRL1):c.772+5G>A
NM_000020.3(ACVRL1):c.870del (p.Arg291fs)	rs1565594157
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs)	rs1592224087
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro)	rs1565594238
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)	rs1555153126
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)	rs1555153131
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg)	rs1085307414
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter)	rs2139073732
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	rs863223413

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