NM_000067.3(CA2):c.681del (p.Lys227fs)Pathogenic
Osteopetrosis with renal tubular acidosis|not provided
β
β
ββ2025β Residue 227
NM_000067.3(CA2):c.232+1G>APathogenic
Osteopetrosis with renal tubular acidosis|not provided|Osteopetrosis
β
β
ββ2025
NM_000067.3(CA2):c.275A>C (p.Gln92Pro)Likely pathogenic
Osteopetrosis with renal tubular acidosis|not provided
β
β
ββ2025β Residue 92
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)Pathogenic
Osteopetrosis with renal tubular acidosis
β
β
ββ2024β Residue 204
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)Pathogenic
not provided|Osteopetrosis with renal tubular acidosis
β
β
ββ2023β Residue 211
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)Likely pathogenic
Osteopetrosis with renal tubular acidosis|Neurodevelopmental delay
β
β
ββ2019β Residue 193
NM_000067.3(CA2):c.381T>G (p.Tyr127Ter)Pathogenic
Osteopetrosis with renal tubular acidosis
β
βββ2024β Residue 127
NM_000067.3(CA2):c.672del (p.Lys224fs)Likely pathogenic
Osteopetrosis with renal tubular acidosis
β
βββ2024β Residue 224
NM_000067.3(CA2):c.233-1G>ALikely pathogenic
Osteopetrosis with renal tubular acidosis
β
βββ2024
NM_000067.3(CA2):c.165_166insGAGGA (p.Ser56fs)Likely pathogenic
Osteopetrosis with renal tubular acidosis
β
βββ2024β Residue 56
NM_000067.3(CA2):c.445-2_445-1delinsTCLikely pathogenic
Osteopetrosis with renal tubular acidosis
β
βββ2024
NM_000067.3(CA2):c.314C>G (p.Ser105Ter)Likely pathogenic
Osteopetrosis with renal tubular acidosis
β
βββ2024β Residue 105
NM_000067.3(CA2):c.232+2T>GLikely pathogenic
CA2-related disorder
β
βββ2022
NM_000067.3(CA2):c.143_146del (p.Ser48fs)Pathogenic
not provided
β
βββ2021β Residue 48
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter)Pathogenic
Osteopetrosis with renal tubular acidosis
β
βββ2017β Residue 7
NM_000067.3(CA2):c.2T>G (p.Met1Arg)Likely pathogenic
Neurodevelopmental delay
β
ββββ Residue 1
NM_000067.3(CA2):c.153T>A (p.Tyr51Ter)Likely pathogenic
CA2-related disorder
ββββ2023β Residue 51
NM_000067.3(CA2):c.621del (p.Trp208fs)Pathogenic
Osteopetrosis with renal tubular acidosis
ββββ2003β Residue 208
NM_000067.3(CA2):c.319C>T (p.His107Tyr)Pathogenic
Osteopetrosis with renal tubular acidosis
ββββ1996β Residue 107
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)Pathogenic
Osteopetrosis with renal tubular acidosis
ββββ1995β Residue 40