AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.720 GeneticVariation BEFREE Interestingly, we show in this report that upon heteromer formation with SCTR, R137H, a NDI-causing AVPR2 mutant that is defective in trafficking to cell surface, can functionally be rescued. 27649563 2016
dbSNP: rs104894760
rs104894760
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C3875046
Disease:
Partial nephrogenic diabetes insipidus
0.010 GeneticVariation BEFREE Genetic testing for the nephronophthisis came back negative but was positive for a missense mutation in the AVPR2 gene (p.Arg104Cys) associated with partial nephrogenic diabetes insipidus.He was started on daily desmopressin. 27350623 2017
dbSNP: rs104894760
rs104894760
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0687120
Disease:
Nephronophthisis
0.010 GeneticVariation BEFREE Genetic testing for the nephronophthisis came back negative but was positive for a missense mutation in the AVPR2 gene (p.Arg104Cys) associated with partial nephrogenic diabetes insipidus.He was started on daily desmopressin. 27350623 2017
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease:
Overgrowth
C 0.700 GeneticVariation CLINVAR Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis. 26131744 2015
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 GeneticVariation CLINVAR Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis. 26131744 2015
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease:
Overgrowth
C 0.700 GeneticVariation CLINVAR Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. 26077742 2015
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 GeneticVariation CLINVAR Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. 26077742 2015
dbSNP: rs104894753
rs104894753
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0677501
Disease:
Congenital Nephrogenic Diabetes Insipidus
0.010 GeneticVariation BEFREE The AVPR2 gene R337X mutation was also a genetic etiology of CNDI patients in the mainland of China. 24622440 2014
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease:
Overgrowth
C 0.700 GeneticVariation CLINVAR Congenital nephrogenic diabetes insipidus: the current state of affairs. 22427315 2012
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 GeneticVariation CLINVAR Congenital nephrogenic diabetes insipidus: the current state of affairs. 22427315 2012
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 GeneticVariation CLINVAR Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. 22386940 2012
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease:
Overgrowth
C 0.700 GeneticVariation CLINVAR Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. 22386940 2012
dbSNP: rs104894761
rs104894761
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis
0.810 GeneticVariation BEFREE We report on a family affected by NSIAD with the known mutation R137C, an arginine to cysteine substitution at amino acid 137. 22154540 2012
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 GeneticVariation CLINVAR Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus. 20459358 2010
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease:
Overgrowth
C 0.700 GeneticVariation CLINVAR Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus. 20459358 2010
dbSNP: rs104894761
rs104894761
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0857122
Disease:
Hyponatraemic
0.010 GeneticVariation BEFREE Mother and child were found to have the previously characterised activating mutation (p.Arg137Cys) of the arginine vasopressin receptor type 2 gene (AVPR2), but had measurable levels of AVP when hyponatraemic. 19542240 2009
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 GeneticVariation CLINVAR Long-term growth of children with nephrogenic diabetes insipidus. 18584216 2008
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease:
Overgrowth
C 0.700 GeneticVariation CLINVAR Long-term growth of children with nephrogenic diabetes insipidus. 18584216 2008
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.720 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
dbSNP: rs104894748
rs104894748
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.710 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
dbSNP: rs104894754
rs104894754
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.710 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
dbSNP: rs104894755
rs104894755
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.710 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
dbSNP: rs104894747
rs104894747
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
dbSNP: rs104894749
rs104894749
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
dbSNP: rs104894750
rs104894750
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006