NM_002585.4(PBX1):c.388del (p.Ala130fs)Pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★★☆☆2025→ Residue 130
NM_002585.4(PBX1):c.862C>T (p.Arg288Ter)Pathogenic
not provided|PBX1-related disorder|Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★★☆☆2025→ Residue 288
NM_002585.4(PBX1):c.868C>T (p.Arg290Trp)Pathogenic
not provided|Inborn genetic diseases|Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★★☆☆2025→ Residue 290
NM_002585.4(PBX1):c.660C>A (p.Cys220Ter)Pathogenic
not provided
★★☆☆2025→ Residue 220
NM_002585.4(PBX1):c.320G>A (p.Arg107Gln)Pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay|not provided
★★☆☆2025→ Residue 107
NM_002585.4(PBX1):c.616del (p.Arg206fs)Pathogenic
not provided|Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★★☆☆2025→ Residue 206
NM_002585.4(PBX1):c.191+1G>APathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★★☆☆2024
NM_002585.4(PBX1):c.863G>A (p.Arg288Gln)Pathogenic
Inborn genetic diseases|PBX1-related disorder|Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★★☆☆2024→ Residue 288
NM_002585.4(PBX1):c.277C>T (p.Arg93Ter)Pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay|not provided
★★☆☆2023→ Residue 93
NM_002585.4(PBX1):c.505G>A (p.Glu169Lys)Likely pathogenic
not provided
★☆☆☆2026→ Residue 169
NM_002585.4(PBX1):c.310del (p.Gln104fs)Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★☆☆☆2025→ Residue 104
NM_002585.4(PBX1):c.395_396dup (p.Ala133fs)Pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 133
NM_002585.4(PBX1):c.874A>G (p.Lys292Glu)Pathogenic
not provided
★☆☆☆2025→ Residue 292
NM_002585.4(PBX1):c.79_82del (p.Gln27fs)Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★☆☆☆2025→ Residue 27
NM_002585.4(PBX1):c.837+1dupPathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★☆☆☆2025
NM_002585.4(PBX1):c.370_371dup (p.Gly125fs)Pathogenic
not provided
★☆☆☆2024→ Residue 125
NM_002585.4(PBX1):c.620dup (p.Phe208fs)Pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★☆☆☆2024→ Residue 208
NM_002585.4(PBX1):c.694G>C (p.Asp232His)Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★☆☆☆2024→ Residue 232
NM_002585.4(PBX1):c.939dup (p.Thr314fs)Pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
★☆☆☆2024→ Residue 314
NM_002585.4(PBX1):c.518del (p.Asn173fs)Pathogenic
Inborn genetic diseases
★☆☆☆2024→ Residue 173