NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)Pathogenic
Trichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I|not provided|Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|Congenital anomaly of kidney and urinary tract
★★☆☆2026→ Residue 932
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)Pathogenic
Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal dysplasia type I|Inborn genetic diseases|TRPS1-related disorder|not provided
★★☆☆2025→ Residue 257
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)Pathogenic
Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|not provided|Langer-Giedion syndrome|Trichorhinophalangeal syndrome, type III|TRPS1-related disorder
★★☆☆2025→ Residue 544
NM_014112.5(TRPS1):c.1168A>T (p.Lys390Ter)Pathogenic
Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I
★★☆☆2025→ Residue 390
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)Pathogenic
Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III|not provided
★★☆☆2025→ Residue 921
NM_014112.5(TRPS1):c.2343_2344del (p.Lys782fs)Pathogenic
Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|not provided
★★☆☆2025→ Residue 782
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)Pathogenic
Proportionate short stature;Pear-shaped nose;Brachydactyly;Alopecia areata|Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I
★★☆☆2025→ Residue 932
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)Pathogenic
Trichorhinophalangeal dysplasia type I|not provided|Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|Inborn genetic diseases|TRPS1-related disorder
★★☆☆2025→ Residue 624
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)Pathogenic
Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III|not provided
★★☆☆2025→ Residue 365
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter)Pathogenic
not provided|Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III
★★☆☆2025→ Residue 732
NM_014112.5(TRPS1):c.2374A>T (p.Lys792Ter)Pathogenic
not provided|Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III
★★☆☆2025→ Residue 792
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter)Pathogenic
Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I
★★☆☆2025→ Residue 696
NM_014112.5(TRPS1):c.2941_2942del (p.Arg981fs)Pathogenic
Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|not provided
★★☆☆2025→ Residue 981
NM_014112.5(TRPS1):c.2097-2A>CPathogenic
Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III|not provided
★★☆☆2024
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)Pathogenic
Trichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|not provided
★★☆☆2024→ Residue 921
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)Pathogenic
Trichorhinophalangeal dysplasia type I|not provided|Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III
★★☆☆2024→ Residue 393
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr)Likely pathogenic
Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal dysplasia type I
★★☆☆2024→ Residue 933
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)Pathogenic
Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|not provided
★★☆☆2023→ Residue 965
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)Likely pathogenic
Trichorhinophalangeal dysplasia type I|not provided
★★☆☆2023→ Residue 919
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter)Pathogenic
Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|not provided
★★☆☆2022→ Residue 881