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. 2022 Feb 24;13:828534. doi: 10.3389/fgene.2022.828534

TABLE 1.

Identified Pathogenic/likely pathogenic variants in OMIM genes.

Gene Variant gnomAD allele frequency ACMG criteria
TBX22 c.821_824del p.(Arg274IlefsTer21) 0 Pathogenic, PVS1, PM2, PP3
FBN1 c.7754T>C p.(Ile2585Thr) 1/62729 Pathogenic, PP5, PM1, PM2, PP2, PP3; ClinVar - Pathogenic/likely pathogenic
KMT2D c.11905C>T p.(Gln3969Ter) 0 Pathogenic, PVS1, PM2, PP3
COL2A1 c.2301+1G>A p.(?) 0 Pathogenic, PVS1, PM2, PP3
PCGF2 c.930dup p.(Thr311HisfsTer7) 0 Likely pathogenic, PVS1, PM2