Subjects
Variant
rs number
Transcript HGVS coding
Amino acid change gnomAD South Asian frequency ACMG Classification
Clinical significance
Case 1 & Case 2 GAPO with glaucoma 5:135388650 C/T rs201210696 NM_000358.3:c.968C>T p.Ala323Val 0.001111 PP2, PP3, BS2 US
JOAG
5:135388650-C-A
rs201210696
NM_000358.3:c.968C>A
p.Ala323Glu
0.00003269
PM1,PM2, PP2
US with minor pathogenic evidence
JOAG 5:135397226-C- - NM_000358.3:c.1944del p.Ser649LeufsTer22 NA PVS1,PM2 Likely Pathogenic
JOAG with GCD
5:135392469-C-T
rs121909208
NM_000358.3:c.1663C>T
p.Arg555Trp
0.0002070
PP5,PM1, PM5,PM5, PM2, PP2,PP3
Pathogenic