NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter)Pathogenic
not provided|Developmental and epileptic encephalopathy, 9
★★☆☆2025→ Residue 267
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter)Pathogenic
not provided|Inborn genetic diseases|Developmental and epileptic encephalopathy, 9
★★☆☆2025→ Residue 886
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter)Pathogenic
Developmental and epileptic encephalopathy, 9|not provided|Inborn genetic diseases
★★☆☆2025→ Residue 395
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)Pathogenic
Developmental and epileptic encephalopathy, 9|not provided|11 conditions
★★☆☆2025→ Residue 366
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser)Pathogenic
not provided|Developmental and epileptic encephalopathy, 9
★★☆☆2025→ Residue 236
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs)Pathogenic
Developmental and epileptic encephalopathy, 9|Inborn genetic diseases|Seizure
★★☆☆2025→ Residue 364
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)Pathogenic
Developmental and epileptic encephalopathy, 9|not provided
★★☆☆2025→ Residue 557
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)Pathogenic
not provided|developmental delay with seizures|Developmental and epileptic encephalopathy, 9|Seizure
★★☆☆2025→ Residue 198
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)Pathogenic
not provided|Developmental and epileptic encephalopathy, 9|Inborn genetic diseases|Epilepsy|PCDH19-related epilepsy syndrome
★★☆☆2025→ Residue 340
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)Pathogenic
not provided|Developmental and epileptic encephalopathy, 9|Inborn genetic diseases
★★☆☆2025→ Residue 232
NM_001184880.2(PCDH19):c.1241A>G (p.Glu414Gly)Likely pathogenic
Developmental and epileptic encephalopathy, 9
★★☆☆2025→ Residue 414
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu)Pathogenic
not provided|Developmental and epileptic encephalopathy, 9
★★☆☆2025→ Residue 344
NM_001184880.2(PCDH19):c.361G>A (p.Asp121Asn)Likely pathogenic
not provided|Developmental and epileptic encephalopathy, 9
★★☆☆2025→ Residue 121
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter)Pathogenic
not provided|Developmental and epileptic encephalopathy, 9
★★☆☆2025→ Residue 619
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs)Pathogenic
Developmental and epileptic encephalopathy, 9|Inborn genetic diseases
★★☆☆2025→ Residue 33
NM_001184880.2(PCDH19):c.2675+2T>CPathogenic
Developmental and epileptic encephalopathy, 9|not provided
★★☆☆2025
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)Pathogenic
Developmental and epileptic encephalopathy, 9
★★☆☆2025→ Residue 270
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu)Pathogenic
Developmental and epileptic encephalopathy, 9|not provided
★★☆☆2024→ Residue 561
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)Pathogenic
Developmental and epileptic encephalopathy, 9|not provided
★★☆☆2024→ Residue 344
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys)Pathogenic
not provided|Developmental and epileptic encephalopathy, 9|Seizure
★★☆☆2024→ Residue 123