NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)Pathogenic
not provided|Abnormal brain morphology|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
β
β
ββ2025β Residue 30
NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter)Pathogenic
not provided|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
β
β
ββ2025β Residue 66
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)Pathogenic
Abnormal brain morphology|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|not provided
β
β
ββ2025β Residue 106
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)Pathogenic
not provided|Abnormal brain morphology|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
β
β
ββ2024β Residue 128
NM_021222.3(PRUNE1):c.132+2T>CPathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|not provided
β
β
ββ2023
NM_021222.3(PRUNE1):c.1036del (p.Val346fs)Likely pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
β
βββ2025β Residue 346
NM_021222.3(PRUNE1):c.385_392dup (p.Glu131fs)Pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
β
βββ2025β Residue 131
NM_021222.3(PRUNE1):c.762T>A (p.Tyr254Ter)Pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
β
βββ2024β Residue 254
NM_021222.3(PRUNE1):c.712C>T (p.Gln238Ter)Pathogenic
not provided
β
βββ2024β Residue 238
NM_021222.3(PRUNE1):c.889C>T (p.Arg297Trp)Pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|not provided
β
βββ2024β Residue 297
GRCh38/hg38 1q21.3(chr1:151017715-151018767)x0Pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
β
βββ2023
NM_021222.3(PRUNE1):c.285C>G (p.Tyr95Ter)Pathogenic
not provided
β
βββ2023β Residue 95
NM_021222.3(PRUNE1):c.723_726del (p.Tyr242fs)Pathogenic
not provided
β
βββ2023β Residue 242
NM_021222.3(PRUNE1):c.39+1G>TLikely pathogenic
not provided
β
βββ2023
NM_021222.3(PRUNE1):c.380A>G (p.His127Arg)Likely pathogenic
not provided
β
βββ2020β Residue 127
NM_021222.3(PRUNE1):c.809T>C (p.Leu270Pro)Likely pathogenic
not provided
β
βββ2017β Residue 270
NM_021222.3(PRUNE1):c.661del (p.Ala221fs)Pathogenic
Inborn genetic diseases
β
βββ2017β Residue 221
NM_021222.3(PRUNE1):c.3_7dup (p.Asp3fs)Pathogenic
Inborn genetic diseases
β
βββ2017β Residue 3
NM_021222.3(PRUNE1):c.521-2A>GLikely pathogenic
not provided|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|PRUNE1-related disorder|Squamous cell lung carcinoma
β
βββ2017
NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter)Likely pathogenic
Abnormal brain morphology|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
β
ββββ Residue 174