NM_000054.7(AVPR2):c.130C>T (p.Leu44Phe)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked
β
β
ββ2026β Residue 44
NM_000054.7(AVPR2):c.262G>A (p.Val88Met)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis
β
β
ββ2026β Residue 88
NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis
β
β
ββ2026β Residue 337
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided
β
β
ββ2025β Residue 181
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided
β
β
ββ2025β Residue 85
NM_000054.7(AVPR2):c.410G>A (p.Arg137His)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|Nephrogenic syndrome of inappropriate antidiuresis|Nephrogenic diabetes insipidus|not provided
β
β
ββ2025β Residue 137
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided
β
β
ββ2025β Residue 279
NM_000054.7(AVPR2):c.320G>A (p.Gly107Glu)Likely pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked
β
β
ββ2025β Residue 107
NM_000054.7(AVPR2):c.500C>T (p.Ser167Leu)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked
β
β
ββ2025β Residue 167
NM_000054.7(AVPR2):c.135_136del (p.Ile46fs)Pathogenic
Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis|Diabetes insipidus, nephrogenic, X-linked
β
β
ββ2025β Residue 46
NM_000054.7(AVPR2):c.409C>T (p.Arg137Cys)Pathogenic
Nephrogenic syndrome of inappropriate antidiuresis|not provided
β
β
ββ2025β Residue 137
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided
β
β
ββ2025β Residue 113
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)Likely pathogenic
Diabetes insipidus, nephrogenic, X-linked|Nephrogenic diabetes insipidus|not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis
β
β
ββ2025β Residue 104
NM_000054.7(AVPR2):c.152_159del (p.Val51fs)Pathogenic
Nephrogenic diabetes insipidus|not provided
β
β
ββ2025β Residue 51
NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|Nephrogenic diabetes insipidus|AVPR2-related disorder
β
β
ββ2025β Residue 205
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis|Diabetes insipidus, nephrogenic, X-linked
β
β
ββ2025β Residue 202
NM_000054.7(AVPR2):c.472del (p.Arg158fs)Pathogenic
Nephrogenic diabetes insipidus|not provided
β
β
ββ2025β Residue 158
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu)Pathogenic
not provided|Nephrogenic diabetes insipidus
β
β
ββ2025β Residue 322
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)Pathogenic
Inborn genetic diseases|Diabetes insipidus, nephrogenic, X-linked|not provided
β
β
ββ2024β Residue 128
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis
β
β
ββ2024β Residue 128