Table 1

Pathogenic and likely pathogenic variants in known and candidate genes associated with BAVM

PatientInheritanceZygosityChrPositionMutation typeGene symbolRef transcriptVariant nomenclatureVR/TR ExAC AF-East AsianExAC AF-total
Pathogenic variants
 AVM306 de novo Het176406847Stop-gain PITPNM3 NM_031220.3c.274C>T (p.Arg92Ter)8/2900
 AVM464 de novo Het1109778600Missense SARS NM_006513.3c.971T>C (p.Ile324Thr)36/6100
 AVM334 de novo Het1265640008Missense LEMD3 NM_001167614.1c.2636C>G (p.Thr879Ser)61/11400
 AVM558MaternalHet9130587149Frameshift ENG NM_000118.3c.920dupA (p.Asn307LysfsTer27)29/4200
Likely pathogenic variants
 AVM028 de novo Het2233253342Missense TIMP3 NM_000362.4c.311T>C (p.Leu104Pro)35/6400
 AVM359 de novo Het119055289Missense SCUBE2 NM_001170690.1c.1592G>A (p.Cys531Tyr)22/4400
 AVM558 de novo Het2102476316Missense MAP4K4 NM_001242559.1c.1694G>A (p.Arg565Gln)42/9700
 AVM206 de novo Het1825565098Missense CDH2 NM_001792.3c.2075A>G (p.Asn692Ser)97/19700
 AVM467 de novo Het357139956Missense IL17RD NM_017563.3c.676G>A (p.Gly226Ser)35/7100.000075
 AVM457 de novo Het869030813Missense PREX2 NM_024870.2c.3355G>A (p.Ala1119Thr)23/5600.0000082
 AVM427 de novo Het579747363Missense ZFYVE16 NM_014733.3c.3442G>T (p.Asp1148Tyr)32/5800
 AVM312PaternalHet755238010Stop-gain EGFR NM_201284.1c.1891G>T (p.Glu631Ter)42/8400
  • AF, allele frequency; BAVM, brain arteriovenous malformation; Chr, chromosome; ExAC, Exome Aggregation Consortium; pLI, probability of loss-of-function intolerance; Ref, reference; VR/TR,variant reads/total reads.