NM_014208.3(DSPP):c.52G>T (p.Val18Phe)Pathogenic
Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1|Dentinogenesis imperfecta type 2|Dentinogenesis imperfecta type 3|Monogenic hearing loss
β
β
ββ2025β Residue 18
NM_014208.3(DSPP):c.1874_1877del (p.Asp625fs)Pathogenic
Dentinogenesis imperfecta type 3|Dentinogenesis imperfecta type 2
β
β
ββ2025β Residue 625
NM_014208.3(DSPP):c.1918_1921del (p.Ser640fs)Pathogenic
Inborn genetic diseases|Dentin dysplasia, Type II; DTDP2
β
β
ββ2025β Residue 640
NM_014208.3(DSPP):c.2525del (p.Ser842fs)Pathogenic
not provided|Pulp calcification;Dentinogenesis imperfecta type 3;Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1;Dentinogenesis imperfecta type 2|DSPP-related disorder|Inborn genetic diseases|Dentinogenesis imperfecta type 2
β
β
ββ2025β Residue 842
NM_014208.3(DSPP):c.135+1G>APathogenic
Dentinogenesis imperfecta type 2|not provided|DSPP-related disorder
β
β
ββ2025
NM_014208.3(DSPP):c.52-1G>APathogenic
not provided
β
βββ2026
NM_014208.3(DSPP):c.3047del (p.Ser1016fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2026β Residue 1016
NM_014208.3(DSPP):c.3180del (p.Ser1060fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 1060
NM_014208.3(DSPP):c.2483del (p.Asn828fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 828
NM_014208.3(DSPP):c.3534delinsTAA (p.Asn1179fs)Likely pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 1179
NM_014208.3(DSPP):c.3548del (p.Ser1183fs)Likely pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 1183
NM_014208.3(DSPP):c.3743del (p.Asn1248fs)Likely pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 1248
NM_014208.3(DSPP):c.3050del (p.Asn1017fs)Likely pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 1017
NM_014208.3(DSPP):c.2100del (p.Ser701fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 701
NM_014208.3(DSPP):c.1814del (p.Ser605fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 605
NM_014208.3(DSPP):c.3682_3685del (p.Ser1228fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 1228
NM_014208.3(DSPP):c.3006del (p.Asn1002fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 1002
NM_014208.3(DSPP):c.2827del (p.Asp943fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 943
NM_014208.3(DSPP):c.2652del (p.Asp884fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 884
NM_014208.3(DSPP):c.3480del (p.Ser1160fs)Pathogenic
Dentinogenesis imperfecta type 2
β
βββ2025β Residue 1160