NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)Pathogenic
Progressive childhood encephalopathy|Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 627
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs)Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|not provided
β
β
ββ2024β Residue 49
NM_016030.6(TRAPPC12):c.1966-1G>APathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2025
NM_016030.6(TRAPPC12):c.979C>T (p.Gln327Ter)Pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2025β Residue 327
NM_016030.6(TRAPPC12):c.1966-2A>GLikely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2025
NM_016030.6(TRAPPC12):c.249_268del (p.Asp84fs)Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2024β Residue 84
NM_016030.6(TRAPPC12):c.1164+1G>TLikely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2023
NM_016030.6(TRAPPC12):c.1127C>G (p.Ser376Ter)Pathogenic
not provided
β
βββ2023β Residue 376
NM_016030.6(TRAPPC12):c.1822A>T (p.Lys608Ter)Pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2023β Residue 608
NM_016030.6(TRAPPC12):c.94del (p.Gln32fs)Pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2023β Residue 32
NM_016030.6(TRAPPC12):c.445C>T (p.Gln149Ter)Pathogenic
Inborn genetic diseases
β
βββ2023β Residue 149
NM_016030.6(TRAPPC12):c.678dup (p.Phe227fs)Pathogenic
Inborn genetic diseases
β
βββ2023β Residue 227
NM_016030.6(TRAPPC12):c.1530+1G>ALikely pathogenic
Inborn genetic diseases
β
βββ2022
NM_016030.6(TRAPPC12):c.1677+5G>APathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|not provided|Gastric cancer
β
βββ2022
NM_016030.6(TRAPPC12):c.850C>T (p.Gln284Ter)Likely pathogenic
TRAPPC12-related disorder
β
βββ2022β Residue 284
NM_016030.6(TRAPPC12):c.722del (p.Gly241fs)Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2020β Residue 241
NM_016030.6(TRAPPC12):c.1965+4A>GLikely pathogenic
not provided
β
βββ2020
NM_016030.6(TRAPPC12):c.1604-1G>TLikely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ2019
NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs)Pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|Progressive childhood encephalopathy|TRAPPC12-related disorder
β
βββ2017β Residue 121
NM_016030.6(TRAPPC12):c.1776+16C>APathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β
βββ