View all genomic variants

212 entries on 3 pages. Showing entries 1 - 100.
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Variant ID     

Effect     

Chr     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
0000000172 +?/+ 12 g.49950833G>T p.(Met1Ile) Sahakitrungruang et al. (2008) AQP2_000016 - Variant found in mother and affected child. Not found in 100 control chromosomes. LOVD
0000000191 +?/+ 12 g.49950894C>G - Canfield et al. (1997) AQP2_000030 - Variant found in affected individual and her mother; not found in father and 2 unaffected sibs nor in 100 control chromosomes. LOVD
0000000190 +?/+ 12 g.49950901T>C V24A Leduc-Nadeau et al. (2010) AQP2_000029 - Variant found in affected individual (II-6); not found in 5 siblings, her son, or her husband. Dr. Daniel Bichet
0000000162 +?/+ 12 g.49950913T>C - Shalev et al. (2004) AQP2_000009 - - LOVD
0000000173 +?/+ 12 g.49950915G>A - Sahakitrungruang et al. (2008) AQP2_000017 - Variant found in father and affected child. Not found in 100 control chromosomes. LOVD
0000000152 +?/+ 12 g.49950957_49950958del 197, 198 delCA at codon 43 Tajima et al. (2003) AQP2_000003 - Variant found in proband and father in heterozygous state. LOVD
0000000171 +?/+ 12 g.49950957_49950958del Gln43Aspfs*62 Park et al. (2014) AQP2_000003 - Variant found in father and affected child. LOVD
0000000213 +?/+ 12 g.49951000A>C - Lin et al. (2002) AQP2_000042 - Variant found in father and 2 affected sons; not found in mother and 2 unaffected sons. Not found in >100 control alleles. Dr. Daniel Bichet
0000000215 +?/+ 12 g.49951000A>C - Lin et al. (2002) AQP2_000042 - Variant found in mother and two affected offspring; not found in father, unaffected offspring, or granddaughter. Not found in >100 control alleles. Dr. Daniel Bichet
0000000201 +?/+ 12 g.49951020G>A - van Lieburg et al. (1994);Deen et al. (1995) AQP2_000035 - Variant found in affected individual and her mother; father not tested. LOVD
0000000168 +?/+ 12 g.49951039C>A - Cheong et al. (2005) AQP2_000013 - Variant found in father and affected child. LOVD
0000000156 +?/+ 12 g.49951041G>A GTG-to-ATG in codon 71 Bichet et al. (2012) AQP2_000007 - Variant found homozygous in 2 affected girls and heterozygous in both unaffected parents and one unaffected son. Dr. Daniel Bichet
0000000157 +?/+ 12 g.49951041G>A GTG-to-ATG in codon 71 Bichet et al. (2012) AQP2_000007 - Variant found homozygous in 2 affected brothers; heterozygous in both unaffected parents and the unaffected maternal grandfather. Dr. Daniel Bichet
0000000158 +?/+ 12 g.49951041G>A GTG-to-ATG in codon 71 Bichet et al. (2012) AQP2_000007 - Variant homozygous in affected son, heterozygous in both unaffected parents. Dr. Daniel Bichet
0000000151 +?/+ 12 g.49951083C>T - Bircan et al. (2008) AQP2_000002 - Variant identified in heterozygous state in both parents and proband was homozygous for the variant. LOVD
0000000163 +?/+ 12 g.49951083C>T - Vargas-Poussou et al. (1997) AQP2_000002 - Mother heterozygous; father not tested LOVD
0000000174 +?/+ 12 g.49951117G>A - Rugpolmuang et al. (2014) AQP2_000018 - Variant found in affected child and heterozygous is father and mother. Not found in 100 control chromosomes LOVD
0000000166 +?/+ 12 g.49951128G>A - Carroll et al. (2006) AQP2_000011 - The 3 affected individuals were homozygous, the parents and the unaffected male were heterozygous. Variant not found in 100 control chromosomes. LOVD
0000000180 +?/+ 12 g.49951128G>A - Tsutsumi et al. (2009) AQP2_000011 - Variant found in father and 2 affected children. LOVD
0000000210 +?/+ 12 g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 5 affected individuals in 4 sibships and heterozygous in their parents. LOVD
0000000211 +?/+ 12 g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected individuals in 3 sibships and heterozygous in their parents. LOVD
0000000212 +?/+ 12 g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected siblings and heterozygous in their parents. LOVD
0000000214 +?/+ 12 g.49951129G>T - Lin et al. (2002) AQP2_000043 - Variant found in mother, 2 affected sons, and 2 unaffected sons; not found in father nor in >100 control alleles. Dr. Daniel Bichet
0000000216 +?/+ 12 g.49951129G>T - Lin et al. (2002) AQP2_000043 - Variant found in father, 2 affected offspring, & in granddaughter; not found in mother and unaffected offspring. Not found in >100 control alleles. Dr. Daniel Bichet
0000000170 +?/+ 12 g.49951153C>T - Park et al. (2014) AQP2_000015 - Variant found in mother and affected child. LOVD
0000000202 +?/+ 12 g.49954163del - van Lieburg et al. (1994);Deen et al. (1995) AQP2_000036 - Variant found in affected individual, 3-of-4 unaffected siblings, and in both parents. LOVD
0000000181 +?/+ 12 g.49954168C>T - Tsutsumi et al. (2009) AQP2_000023 - Variant found in mother and 2 affected children. LOVD
0000000203 +?/+ 12 g.49954168C>T - Goji et al. (1998);Kuwahara (1998) AQP2_000023 - Variant found in both affected children and their father, not in mother. LOVD
0000000175 +?/+ 12 g.49954171C>T - Rugpolmuang et al. (2014) AQP2_000019 - Variant found homozygous in father and affected child; mother not tested. Not found in 100 control chromosomes. LOVD
0000000150 +?/+ 12 g.49954204T>C - Duzenli et al. (2012) AQP2_000001 - Variant may cause severe disease as patient was the most severely affected among 15 patients. LOVD
0000000161 +?/+ 12 g.49954233G>A GCC>ACC Pasel et al. (2000) AQP2_000008 - One of 8 families studied; only one with AQP2 mutation, the others had AVPR2 mutations. LOVD
0000000182 +?/+ 12 g.49954244T>A - Iolascon et al. (2007) AQP2_000024 - Variant found in father and affected child. Not found in older brother nor in 100 control chromosomes. LOVD
0000000184 +?/+ 12 g.49954244T>A D150E Guyon et al. (2009) AQP2_000024 - Variant found in father, paternal uncle, paternal grandfather, and all 3 affected children. Dr. Daniel Bichet
0000000155 -/- 12 g.49954295T>C - Boccalandro et al. (2004) AQP2_000006 - None of the individuals in the NDI family had the variant. Of about 200 individuals, 30% were heterozygous and 1% was homozygous for the variant. LOVD
0000000159 -?/- 12 g.49954295T>C TCT>TCC in codon 167 Rocha et al. (1999) AQP2_000006 - Variant found in proband; did not cosegregate with disease among 46 Brazilian individuals. 19 of 46 samples including affected and unaffected individuals from 3 families and unrelated normal volunteers were heterozygous for the variant, 13 individuals were homozygous for the variant (0.77 allele frequency) LOVD
0000000178 -/- 12 g.49954295T>C c.697C>G Liberatore et al. (2012) AQP2_000006 - A previously described polymorphism. LOVD
0000000186 -?/- 12 g.49954295T>C S167S Guyon et al. (2009) AQP2_000006 - Variant found in father, paternal uncle, paternal grandfather, and 3 affected children. Dr. Daniel Bichet
0000000154 +?/+ 12 g.49954296G>A - Boccalandro et al. (2004) AQP2_000005 - Variant was homozygous in 4 affected individuals, heterozygous in 14 unaffected individuals and not found in 7 individuals. Variant not found in 31 white and 29 Hispanic individuals from the Houston, Texas area. Sampling of one sib of each family in town (population 2078 in 2000 census) found two undiagnosed homozygous individuals (1%) and 30% heterozygous for the variant giving an estimate of 15.8% for the variant. LOVD
0000000164 +?/+ 12 g.49954296G>A - Vargas-Poussou et al. (1997) AQP2_000005 - - LOVD
0000000204 +?/+ 12 g.49954317G>A - Goji et al. (1998);Kuwahara (1998) AQP2_000037 - Variant found in both affected children and in their mother, not in father. LOVD
0000000167 +?/+ 12 g.49954642G>A c.537G>A Carroll et al. (2006) AQP2_000012 - The affected individual was homozygous; the parents were heterozygous. Variant not found in 100 control chromosomes. LOVD
0000000192 +?/+ 12 g.49954647C>G - Canfield et al. (1997) AQP2_000031 - Variant found in affected individual, father, and one unaffected sibling; not found in 100 control chromosomes. LOVD
0000000188 +?/+ 12 g.49954663C>T R187C Leduc-Nadeau et al. (2010) AQP2_000028 - Variant found in mother, unaffected son, and 2 affected sons. Dr. Daniel Bichet
0000000189 +?/+ 12 g.49954663C>T R187C Leduc-Nadeau et al. (2010) AQP2_000028 - Variant found in affected individual (II-6), her son, two siblings, and her mother; not found in 3 siblings of II-6 or her husband. Dr. Daniel Bichet
0000000193 +?/+ 12 g.49954663C>T - Deen et al. (1994);Deen et al. (1995) AQP2_000028 - Variant found in affected individual and father, not in 2 unaffected siblings or mother. Not found in 4 control chromosomes. LOVD
0000000197 +?/+ 12 g.49954663C>T - de Mattia et al. (2004) AQP2_000028 - Variant found in affected individual; not found in sibling, mother, or maternal cousin. Dr. Daniel Bichet
0000000200 +?/+ 12 g.49954663C>T - van Lieburg et al. (1994);Deen et al. (1995) AQP2_000028 - Variant found homozygous in affected individual and heterozygous in mother; father not tested. LOVD
0000000169 +?/+ 12 g.49954664G>A - Cheong et al. (2005) AQP2_000014 - Variant found in mother and affected child. LOVD
0000000195 +?/+ 12 g.49954672G>A - de Mattia et al. (2004 AQP2_000032 - Variant found in affected individual and his father; not in unaffected sibling, mother, or maternal uncle. Dr. Daniel Bichet
0000000205 +?/+ 12 g.49954672G>A - Kuwahara (1998) AQP2_000032 - Variant found in affected child and his father, not in mother. LOVD
0000000185 +?/+ 12 g.49954691G>A G196D Guyon et al. (2009) AQP2_000026 - Variant found in mother, maternal grandmother, and 3 affected children. Dr. Daniel Bichet
0000000176 +?/+ 12 g.49954705C>T - Liberatore et al. (2012) AQP2_000020 - Variant found in mother and affected child. LOVD
0000000153 +?/+ 12 g.49955398G>A 1502-1G>A in intron 3 of the terminal exon splicing junction Tajima et al. (2003) AQP2_000004 - Variant found in proband and mother in heterozygous state. LOVD
0000000177 +?/+ 12 g.49955423G>C c.697C>G Liberatore et al. (2012) AQP2_000021 - Variant found in father and affected child. LOVD
0000000183 +?/+ 12 g.49955435G>T - Iolascon et al. (2007) AQP2_000025 - Variant found in mother and affected child. Not found in older brother nor in 100 control chromosomes. LOVD
0000000165 +?/+ 12 g.49955438T>C - Vargas-Poussou et al. (1997) AQP2_000010 - Variant not detected in the father. Assume de novo mutation. LOVD
0000000194 +?/+ 12 g.49955438T>C - Deen et al. (1994);Deen et al. (1995) AQP2_000010 - Variant found in affected individual, one sibling and mother; not found in father and 2 unaffected siblings. Not found in 4 control chromosomes. LOVD
0000000179 +?/+ 12 g.49955439C>T - Moon et al. (2009) AQP2_000022 - Variant found in affected individual; no data on parents. Could be a sporadic case (new mutation). No data to on parents to support autosomal dominant inheritance. Mary Fujiwara
0000000187 +?/+ 12 g.49955474A>G K228E Leduc-Nadeau et al. (2010) AQP2_000027 - Variant found in father and 2 affected sons. Dr. Daniel Bichet
0000000207 +?/+ 12 g.49955513del - Kuwahara et al. (2001);Ohzeki et al. (1984) AQP2_000038 - Variant found in 3 affected individuals; not found in unaffected mom. LOVD
0000000199 +?/+ 12 g.49955553G>T - de Mattia et al. (2005) AQP2_000034 - Variant found in affected individual; not in mother, father not tested. Not found in >160 control chromosomes. LOVD
0000000208 +?/+ 12 g.49955555_49955564del - Kuwahara et al. (2001) AQP2_000039 - Variant found in affected child but in neither of her parents. LOVD
0000000196 +?/+ 12 g.49955577C>T - de Mattia et al. (2004) AQP2_000033 - Variant found in affected individual, mother, and maternal uncle, not found in unaffected sibling or father. Dr. Daniel Bichet
0000000198 +?/+ 12 g.49955577C>T - de Mattia et al. (2004) AQP2_000033 - Variant found in affected individual, her mother, and maternal cousin; not found in unaffected sibling. Dr. Daniel Bichet
0000000206 +?/+ 12 g.49955577C>T - Kuwahara (1998) AQP2_000033 - Variant found in affected child and his mother, not in father. LOVD
0000000209 +?/+ 12 g.49955604_49955610del - Kuwahara et al. (2001) AQP2_000040 - Variant found in affected individual; not in his parents or his brother. LOVD
0000000089 ./. 20 g.= Variant not detected. Ye et al. (2005) AVP_000058 - Variant not detected in the coding, promoter & intronic regions, in the intergenic region between AVP and oxytocin, or in the coding regions of UBCE7IP5. LOVD
0000000145 ./. 20 g.= Variant not detected. Tian et al. (2016) AVP_000058 - Need to confirm if a deletion was ruled out. LOVD
0000000085 -/- 20 g.3082520C>T g.2369G>A in M11166.1 Abbes et al. (2000) AVP_000057 - Variant found at primer site in linkage disequilibrium with c.346T>C. Variant found in 59-of-59 affected, 0-of-46 unaffected individuals. LOVD
0000000120 +?/+ 20 g.3082632A>C 2033T>G Couture et al., Paediatr Child Health 10:41B, 2005; Couture et al., Unpublished AVP_000072 - Variant found in all 3 affected compound heterozygotes and in 17 unaffected individuals heterozygous for this variant; not found in 17 other unaffected individuals. Dr. Daniel Bichet
0000000125 -/- 20 g.3082650C>T - Hedrich et al. (2008) AVP_000075 - In Family 1, variant present in 3 siblings (2 affected, 1 unaffected). Not found in 100 unrelated healthy individuals. LOVD
0000000030 +?/+ 20 g.3082773C>A g.2116G>T in M11166.1 Rittig et al. (1996) AVP_000025 - - LOVD
0000000042 +?/+ 20 g.3082777G>C g.2112C>G in M11166.1 Christensen et al. (2004) AVP_000033 - Mutation found in 2-of-2 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. LOVD
0000000083 +?/+ 20 g.3082779A>C g.2110T>G in M11166.1 Abbes et al. (2000), van den Akker et al. (2000), Nijenhuis et al. (2001) AVP_000059 - 'All affected subjects were heterozygous for the mutation, whereas none of the healthy family members displayed the mutation.' LOVD
0000000132 +?/+ 20 g.3082782C>A g.2107G>T in M11166.1 Bullmann et al. (2002) AVP_000079 - Variant found in 3-of-3 affected; not found in 2-of-2 unaffected or in healthy controls. LOVD
0000000029 +?/+ 20 g.3082782_3082783delinsAC g.2106_2107delinsGT in M11166.1 Rittig et al. (1996) AVP_000027 - Mutation found in 2-of-2 affected, 0-of-0 unaffected individuals. LOVD
0000000005 +?/+ 20 g.3082788C>A g.2101G>T in M11166.1 Calvo et al. (1998) AVP_000005 - - LOVD
0000000028 +?/+ 20 g.3082795G>T g.2094C>A in M11166.1 Rittig et al. (1996) AVP_000022 - Mutation found in 5-of-5 affected, 0-of-3 unaffected individuals. LOVD
0000000143 +?/+ 20 g.3082796C>T - Tian et al. (2016) AVP_000087 - Variant found in proband. LOVD
0000000052 +?/+? 20 g.3082976del g.1920delG Tae et al. (2005) AVP_000035 - Mutation found in 3-of-3 affected individuals. LOVD
0000000094 +?/+ 20 g.3082977C>A - Perrotta et al. (2015) AVP_000062 - De novo mutation; not found in the parents or unaffected family members; not found in 400 control chromosomes. LOVD
0000000096 +?/+ 20 g.3082977C>A - de Fost et al. (2011) AVP_000062 - Variant in mother and son. LOVD
0000000056 +?/+ 20 g.3082985C>T g.1911G>A in M11166.1 Fujii et al. (2000) AVP_000039 - Mutation found in 4-of-4 affected, 0-of-0 unaffected individuals LOVD
0000000074 +?/+ 20 g.3082986A>G - Rutishauser et al. (2002) AVP_000048 - - LOVD
0000000138 +?/+ 20 g.3082986A>T - Chitturi et al. (2008) AVP_000082 - Variant found in 4-of-4 affected, 0-of-1 unaffected individuals. LOVD
0000000081 +?/+ 20 g.3082988C>A g.1908G>T in M11166.1 Santiprabhob et al. (2002) AVP_000053 - - LOVD
0000000148 +?/+ 20 g.3082988C>A - Duzenli et al. (2012) AVP_000053 - Variant found in proband. LOVD
0000000041 +?/+ 20 g.3082989A>C g.1907T>G in M11166.1 Christensen et al. (2004) AVP_000032 - Mutation found in 3-of-3 affected, 1-of-3 unaffected individuals. Not found in 296 control chromosomes. LOVD
0000000110 +?/+ 20 g.3083001C>G - Hrčková et al. (2016) AVP_000068 - Mutation found in 3-of-3 affected individuals. LOVD
0000000054 +?/+ 20 g.3083004C>G g.1892G>C in M11166.1 Elias et al. (2003) AVP_000037 - Mutation found in 3-of-3 affected, 0-of-0 unaffected individuals LOVD
0000000003 +?/+ 20 g.3083005G>T g.1891C>A in M11166.1 Nagasaki et al. (1995) AVP_000003 - Not in 200 control chromosomes tested with Dde I restriction endonuclease analysis. LOVD
0000000100 +?/+ 20 g.3083005G>T - Turkkahraman et al. (2015) AVP_000003 - Mutation found in 5-of-5 affected, 0-of-1 unaffected individuals. LOVD
0000000010 +?/+ 20 g.3083006C>G - Davies et al. (2005) AVP_000008 - - LOVD
0000000011 +?/+ 20 g.3083006C>G - Davies et al. (2005) AVP_000008 - - LOVD
0000000053 +?/+ 20 g.3083007A>C g.1665T>G (?); assume g.1889T>G in M11166.1 DiMeglio et al. (2001) AVP_000036 - Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals LOVD
0000000127 +/+ 20 g.3083007A>C - Hedrich et al. (2009) AVP_000036 - Variant found in 3-of-3 affected, 0-1 unaffected individuals. LOVD
0000000149 +?/+ 20 g.3083007A>T g.1665T>A in M11166.1 where 1=A in ATG Baglioni et al. (2004) AVP_000089 - Variant found in 1-of-1 affected, 0-of-4 unaffected individuals. LOVD
0000000064 +?/+ 20 g.3083009C>G g.1887G>C in M11166.1 Mundschenk et al. (2001) AVP_000045 - Mutation found in 4-of-4 affected, 0-of-0 unaffected individuals LOVD
0000000071 +?/+ 20 g.3083010G>A - Rutishauser et al. (1999) AVP_000047 - - LOVD
0000000016 +?/+ 20 g.3083012C>A g.1884G>T in M11166.1 Rauch et al. (1996) AVP_000013 - Not in 100 control chromosomes tested with Dde I restriction endonuclease analysis. LOVD
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