NM_183235.3(RAB27A):c.423_424del (p.Arg141fs)Pathogenic
Griscelli syndrome type 2
β
β
ββ2026β Residue 141
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)Pathogenic
not provided|Griscelli syndrome type 2|Autoinflammatory syndrome|RAB27A-related disorder
β
β
ββ2025β Residue 82
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)Pathogenic
Griscelli syndrome type 2|Multisystem inflammatory syndrome in children|See cases
β
β
ββ2025β Residue 118
NM_183235.3(RAB27A):c.335del (p.Asn112fs)Pathogenic
Griscelli syndrome type 2|not provided
β
β
ββ2025β Residue 112
NM_183235.3(RAB27A):c.377del (p.Pro126fs)Pathogenic
Griscelli syndrome type 2|Inborn genetic diseases
β
β
ββ2025β Residue 126
NM_183235.3(RAB27A):c.467+1G>CPathogenic
Griscelli syndrome type 2|See cases
β
β
ββ2025
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)Pathogenic
Griscelli syndrome type 2|not provided|Autoinflammatory syndrome
β
β
ββ2025β Residue 184
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)Pathogenic
Griscelli syndrome type 2|Autoinflammatory syndrome
β
β
ββ2025β Residue 134
NM_183235.3(RAB27A):c.149del (p.Arg50fs)Pathogenic
Griscelli syndrome|Griscelli syndrome type 2
β
β
ββ2024β Residue 50
NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)Pathogenic
Griscelli syndrome type 2
β
β
ββ2024β Residue 172
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)Pathogenic
Griscelli syndrome type 2|not provided|RAB27A-related disorder
β
β
ββ2023β Residue 172
NM_183235.3(RAB27A):c.239+1G>TPathogenic
Autoinflammatory syndrome|Griscelli syndrome type 2
β
β
ββ2023
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer)Pathogenic
not provided|Griscelli syndrome type 2
β
β
ββ2021β Residue 6
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val)Pathogenic
Griscelli syndrome type 2
β
βββ2026β Residue 76
NM_183235.3(RAB27A):c.442_443del (p.Ala148fs)Pathogenic
Griscelli syndrome type 2
β
βββ2025β Residue 148
NM_183235.3(RAB27A):c.382dup (p.Ile128fs)Pathogenic
Griscelli syndrome type 2
β
βββ2025β Residue 128
NM_183235.3(RAB27A):c.240-47_240delinsTATTTCATACGAAATTTATALikely pathogenic
RAB27A-related disorder|Griscelli syndrome type 2
β
βββ2025
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)Likely pathogenic
Griscelli syndrome type 2
β
βββ2025β Residue 77
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr)Pathogenic
Griscelli syndrome type 2
β
βββ2025β Residue 80
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)Likely pathogenic
Griscelli syndrome type 2
β
βββ2025β Residue 159