Full data view for gene AQP2

Information The variants shown are described using the NM_000486.5 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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+?/+ 1 c.3G>T r.(?) p.(?) Maternal (confirmed) g.49950833G>T p.(Met1Ile) Sahakitrungruang et al. (2008) AQP2_000016 - Variant found in mother and affected child. Not found in 100 control chromosomes. DNA SEQ NDI-AQP2 Sahakitrungruang et al. (2008) F - Thai Nuclear family with one affected child. 1 LOVD
+?/+ 1 c.64C>G r.(?) p.(Leu22Val) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 Canfield et al. (1997) F - Caucasian Nuclear family with data on one affected, 2 unaffected offspring, and parents. 1 LOVD
+?/+ 1 c.71T>C r.(?) p.(Val24Ala) Paternal (inferred) 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. DNA SEQ NDI-AQP2 Leduc-Nadeau et al. (2010) F (Canada) - 3-generation family with data on one affected, 8 unaffected individuals. 1 Dr. Daniel Bichet
./. 1 c.83T>C r.(?) p.(Leu28Pro) Both (homozygous) g.49950913T>C - Shalev et al. (2004) AQP2_000009 - - DNA SEQ NDI-AQP2 Shalev et al. (2004) F - Bedouin Arbitrary member of a 4-generation consanguineous family with 9 affected in 5 families in the fourth generation. 1 LOVD
+?/+ 1 c.85G>A r.(?) p.(Gly29Ser) Paternal (confirmed) g.49950915G>A - Sahakitrungruang et al. (2008) AQP2_000017 - Variant found in father and affected child. Not found in 100 control chromosomes. DNA SEQ NDI-AQP2 Sahakitrungruang et al. (2008) F - Thai Nuclear family with one affected child. 1 LOVD
+?/+ 1 c.127_128del r.(?) p.(Gln43Aspfs*63) Paternal (confirmed) g.49950957_49950958del 197, 198 delCA at codon 43 Tajima et al. (2003) AQP2_000003 - Variant found in proband and father in heterozygous state. DNA SEQ NDI-AQP2 Tajima et al. (2003) M - Japanese Member of a nuclear non-consanguineous family with 1 affected and 1 unaffected sibling. 1 LOVD
+?/+ 3 c.127_128del r.(?) p.(Gln43Aspfs*63) Paternal (confirmed) g.49950957_49950958del Gln43Aspfs*62 Park et al. (2014) AQP2_000003 - Variant found in father and affected child. DNA SEQ NDI-AQP2 Park et al. (2014) M Korea - Nuclear family with data on one affected child. 1 LOVD
+?/+ 1 c.170A>C r.(?) p.(Gln57Pro) Paternal (confirmed) 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. DNA SEQ NDI-AQP2 Lin et al. (2002) M - Chinese Nuclear family with 2 affected, 2 unaffected offspring. Not known to be related to Family-2 which carries the same two AQP2 variants. 1 Dr. Daniel Bichet
+?/+ 1 c.170A>C r.(?) p.(Gln57Pro) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 Lin et al. (2002) - - Chinese Data on 3-generation family with 2 affected, 1 unaffected offspring. Not known to be related to Family-1 which carries the same two AQP2 variants. 1 Dr. Daniel Bichet
+?/+ 1 c.190G>A r.(?) p.(Gly64Arg) Both (homozygous) 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. DNA SEQ NDI-AQP2 van Lieburg et al. (1994);Deen et al. (1995) F - Italian 4-generation consanguineous family with data on affected individual and mother. 1 LOVD
+?/+ 1 c.209C>A r.(?) p.(Ala70Asp) Paternal (confirmed) g.49951039C>A - Cheong et al. (2005) AQP2_000013 - Variant found in father and affected child. DNA SEQ NDI-AQP2 Cheong et al. (2005) F Korea - Nuclear family with one affected child. 1 LOVD
+?/+ 1 c.211G>A r.(?) p.(Val71Met) Both (homozygous) 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. DNA SEQ NDI-AQP2 Langley et al. (1991), Bichet et al. (2012) F - Pakastani Member of a 4-generation family with data on 5 individuals (2 affected, 3 unaffected) with consanguinity. Parents are first cousins. 1 Dr. Daniel Bichet
+?/+ 1 c.211G>A r.(?) p.(Val71Met) Both (homozygous) 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. DNA SEQ NDI-AQP2 Bichet et al. (2012) M - Pakastani Member of 3-generation family with data on 6 individuals (2 affected, 4 unaffected). 1 Dr. Daniel Bichet
+?/+ 1 c.211G>A r.(?) p.(Val71Met) Both (homozygous) 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. DNA SEQ NDI-AQP2 Bichet et al. (2012) M - Pakastani Member in a 3-generation family with data on 3 individuals (1 affected son and both unaffected parents) with consanguinity. 1 Dr. Daniel Bichet
+?/+ 1 c.253C>T r.(?) p.(Arg85*) Unknown g.49951083C>T - Bircan et al. (2008) AQP2_000002 - Variant identified in heterozygous state in both parents and proband was homozygous for the variant. DNA SEQ NDI-AQP2 Bircan et al. (2008) M - - Nuclear non-consanguineous family with one affected child. 1 LOVD
+?/+ 1 c.253C>T r.(?) p.(Arg85*) Both (homozygous) g.49951083C>T - Vargas-Poussou et al. (1997) AQP2_000002 - Mother heterozygous; father not tested DNA SEQ NDI-AQP2 Vargas-Poussou et al. (1997) F - Turkish Member of a 5-generation consanguineous family with one affected individual. 1 LOVD
+?/+ 1 c.287G>A r.(?) p.(Gly96Glu) Both (homozygous) 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 DNA SEQ NDI-AQP2 Rugpolmuang et al. (2014) M - Asian Affected child of first-cousin mating. 1 LOVD
+?/+ 1 c.298G>A r.(?) p.(Gly100Arg) Both (homozygous) 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. DNA SEQ NDI-AQP2 Carroll et al. (2006) - Saudi Arabia - Nuclear consanguineous family with 2 unaffected parents, 3 affected (one female, 2 male), and one unaffected offspring. 1 LOVD
+?/+ 1 c.298G>A r.(?) p.(Gly100Arg) Paternal (confirmed) g.49951128G>A - Tsutsumi et al. (2009) AQP2_000011 - Variant found in father and 2 affected children. DNA SEQ NDI-AQP2 Tsutsumi et al. (2009) F (Japan) - Nuclear family with 2 affected children. 1 LOVD
+?/+ 1 c.298G>T r.(?) p.(Gly100*) Both (homozygous) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 5 affected individuals in 4 sibships and heterozygous in their parents. DNA SEQ NDI-AQP2 Hochberg et al. (1997) F - Arab-Bedouin Member of a 7-generation family with data on 5 affected individuals and their parents. Parents of proband are first cousins. Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). 1 LOVD
+?/+ 1 c.298G>T r.(?) p.(Gly100*) Both (homozygous) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected individuals in 3 sibships and heterozygous in their parents. DNA SEQ NDI-AQP2 Hochberg et al. (1997) F - Arab-Bedouin Member of 7-generation consanguineous family with data on 3 affected individuals and their parents. Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). 1 LOVD
+?/+ 1 c.298G>T r.(?) p.(Gly100*) Both (homozygous) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected siblings and heterozygous in their parents. DNA SSCA NDI-AQP2 Hochberg et al. (1997) - - Arab-Bedouin 7-generation family with 6 affected individuals (3 deceased). Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). 1 LOVD
+?/+ 1 c.299G>T r.(?) p.(Gly100Val) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 Lin et al. (2002) M - Chinese Nuclear family with 2 affected, 2 unaffected offspring. Not known to be related to Family-2 which carries the same two AQP2 variants. 1 Dr. Daniel Bichet
+?/+ 1 c.299G>T r.(?) p.(Gly100Val) Paternal (confirmed) 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. DNA SEQ NDI-AQP2 Lin et al. (2002) - - Chinese Data on 3-generation family with 2 affected, 1 unaffected offspring. Not known to be related to Family-1 which carries the same two AQP2 variants. 1 Dr. Daniel Bichet
+?/+ 1 c.323C>T r.(?) p.(Thr108Met) Maternal (confirmed) g.49951153C>T - Park et al. (2014) AQP2_000015 - Variant found in mother and affected child. DNA SEQ NDI-AQP2 Park et al. (2014) M Korea - Nuclear family with data on one affected child. 1 LOVD
+?/+ 2 c.369del r.(?) p.(Asn123Lysfs*9) Both (homozygous) 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. DNA SEQ NDI-AQP2 van Lieburg et al. (1994);Deen et al. (1995) M - Palestinian 4-generation consanguineous family with data on one affected individual, 4 unaffected siblings, and their parents. 1 LOVD
+?/+ 2 c.374C>T r.(?) p.(Thr125Met) Maternal (confirmed) g.49954168C>T - Tsutsumi et al. (2009) AQP2_000023 - Variant found in mother and 2 affected children. DNA SEQ NDI-AQP2 Tsutsumi et al. (2009) F (Japan) - Nuclear family with 2 affected children. 1 LOVD
+?/+ 2 c.374C>T r.(?) p.(Thr125Met) Paternal (confirmed) g.49954168C>T - Goji et al. (1998);Kuwahara (1998) AQP2_000023 - Variant found in both affected children and their father, not in mother. DNA SEQ NDI-AQP2 Goji et al. (1998);Kuwahara (1998) F - Japanese Nuclear family with 2 affected offspring. 1 LOVD
+?/+ 1 c.377C>T r.(?) p.(Thr126Met) Both (homozygous) 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. DNA SEQ NDI-AQP2 Rugpolmuang et al. (2014) F - Asian Two affected children in mating of first cousins. Father and two siblings affected. 1 LOVD
+?/+ 2 c.410T>C r.(?) p.(Leu137Pro) Both (homozygous) g.49954204T>C - Duzenli et al. (2012) AQP2_000001 - Variant may cause severe disease as patient was the most severely affected among 15 patients. DNA SEQ NDI-AQP2 Duzenli et al. (2012) M - Turkish One of 15 Turkish patients with nephrogenic or neurohypophyseal DI. 1 LOVD
+?/+ 2 c.439G>A r.(?) p.(Ala147Thr) Both (homozygous) 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. DNA SEQ NDI-AQP2 Pasel et al. (2000) F - Turkish Nuclear consanguineous family with one affected and 2 unknown offspring. 1 LOVD
+?/+ 2 c.450T>A r.(?) p.(Asp150Glu) Paternal (confirmed) 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. DNA SEQ NDI-AQP2 Iolascon et al. (2007) M (Italy) - Nuclear family with one affected, one unaffected child. 1 LOVD
+?/+ 2 c.450T>A r.(?) p.(Asp150Glu) Paternal (confirmed) g.49954244T>A D150E Guyon et al. (2009) AQP2_000024 - Variant found in father, paternal uncle, paternal grandfather, and all 3 affected children. DNA SEQ NDI-AQP2 Guyon et al. (2009) M (Canada) - 3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals. 1 Dr. Daniel Bichet
-/- 2 c.501T>C r.(=) p.(=) Unknown 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. DNA SEQ Healthy/Control Boccalandro et al. (2004) - - Hispanic One sib from each family in town in northeast of Monterrey, Mexico was sampled (about 200 individuals). 1 LOVD
-?/- 2 c.501T>C r.(=) p.(=) Unknown 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) DNA SEQ NDI-AVPR2 Rocha et al. (1999) M - Portuguese/African/native Brazilian Member of a nuclear family with nephrogenic DI with data on 7 individuals (1 affected, 6 unaffected). 1 LOVD
-/- 2 c.501T>C r.(=) p.(=) Unknown g.49954295T>C c.697C>G Liberatore et al. (2012) AQP2_000006 - A previously described polymorphism. DNA SEQ NDI-AQP2 Liberatore et al. (2012) F - Brazilian Nuclear family with one affected and one unaffected child. 1 LOVD
-?/- 2 c.501T>C r.(=) p.(=) Paternal (confirmed) g.49954295T>C S167S Guyon et al. (2009) AQP2_000006 - Variant found in father, paternal uncle, paternal grandfather, and 3 affected children. DNA SEQ NDI-AQP2 Guyon et al. (2009) M (Canada) - 3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 2 c.502G>A r.(?) p.(Val168Met) Both (homozygous) 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. DNA SEQ NDI-AQP2 Boccalandro et al. (2004) M - Mexican Member of a 4-generation family with 25 individuals (4 affected, 21 unaffected) from a small town northeast of Monterrey, Mexico. 1 LOVD
+?/+ 2 c.502G>A r.(?) p.(Val168Met) Maternal (confirmed) g.49954296G>A - Vargas-Poussou et al. (1997) AQP2_000005 - - DNA SEQ NDI-AQP2 Vargas-Poussou et al. (1997) M Europe Caucasian Nuclear family with one affected, one unaffected offspring. 1 LOVD
+?/+ 2 c.523G>A r.(?) p.(Gly175Arg) Maternal (confirmed) g.49954317G>A - Goji et al. (1998);Kuwahara (1998) AQP2_000037 - Variant found in both affected children and in their mother, not in father. DNA SEQ NDI-AQP2 Goji et al. (1998);Kuwahara (1998) F - Japanese Nuclear family with 2 affected offspring. 1 LOVD
+?/+ 3 c.538G>A r.(?) p.(Gly180Ser) Both (homozygous) 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. DNA SEQ NDI-AQP2 Carroll et al. (2006) M Saudi Arabia - Nuclear family with 2 unaffected parents and 1 unaffected male offspring. 1 LOVD
+?/+ 3 c.543C>G r.(?) p.(Cys181Trp) Paternal (confirmed) 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. DNA SEQ NDI-AQP2 Canfield et al. (1997) F - Caucasian Nuclear family with data on one affected, 2 unaffected offspring, and parents. 1 LOVD
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys) Maternal (confirmed) g.49954663C>T R187C Leduc-Nadeau et al. (2010) AQP2_000028 - Variant found in mother, unaffected son, and 2 affected sons. DNA SEQ NDI-AQP2 Leduc-Nadeau et al. (2010) M (Canada) - Nuclear family with two affected, one unaffected children. 1 Dr. Daniel Bichet
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 Leduc-Nadeau et al. (2010) F (Canada) - 3-generation family with data on one affected, 8 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys) Paternal (confirmed) 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. DNA SEQ NDI-AQP2 Deen et al. (1994);Deen et al. (1995) M (Netherlands) - Nuclear family with one affected and 2 unaffected offspring. 1 LOVD
+?/+ 2 c.559C>T r.(?) p.(Arg187Cys) Paternal (inferred) g.49954663C>T - de Mattia et al. (2004) AQP2_000028 - Variant found in affected individual; not found in sibling, mother, or maternal cousin. DNA SEQ NDI-AQP2 de Mattia et al. (2004) F - - 3-generation family with data on one affected, 3 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys) Both (homozygous) 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. DNA SEQ NDI-AQP2 van Lieburg et al. (1994);Deen et al. (1995) M - Dutch 5-generation consanguineous family with data on one affected individual, his mother, and a sibling. 1 LOVD
+?/+ 3 c.560G>A r.(?) p.(Arg187His) Maternal (confirmed) g.49954664G>A - Cheong et al. (2005) AQP2_000014 - Variant found in mother and affected child. DNA SEQ NDI-AQP2 Cheong et al. (2005) F Korea - Nuclear family with one affected child. 1 LOVD
+?/+ 3 c.568G>A r.(?) p.(Ala190Thr) Paternal (confirmed) 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. DNA SEQ NDI-AQP2 de Mattia et al. (2004) M - - 3-generation family with data on one affected and 4 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 1 c.568G>A r.(?) p.(Ala190Thr) Paternal (confirmed) g.49954672G>A - Kuwahara (1998) AQP2_000032 - Variant found in affected child and his father, not in mother. DNA SEQ NDI-AQP2 Kuwahara (1998) M (Japan) - Nuclear family with one affected individual. 1 LOVD
+?/+ 3 c.587G>A r.(?) p.(Gly196Asp) Maternal (confirmed) g.49954691G>A G196D Guyon et al. (2009) AQP2_000026 - Variant found in mother, maternal grandmother, and 3 affected children. DNA SEQ NDI-AQP2 Guyon et al. (2009) M (Canada) - 3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 3 c.601C>T r.(?) p.(His201Tyr) Maternal (confirmed) g.49954705C>T - Liberatore et al. (2012) AQP2_000020 - Variant found in mother and affected child. DNA SEQ NDI-AQP2 Liberatore et al. (2012) F - Brazilian Nuclear family with one affected and one unaffected child. 1 LOVD
+?/+ i3 c.607-1G>A r.(spl?) p.(?) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 Tajima et al. (2003) M - Japanese Member of a nuclear non-consanguineous family with 1 affected and 1 unaffected sibling. 1 LOVD
+?/+ 4 c.631G>C r.(?) p.(Gly211Arg) Paternal (confirmed) g.49955423G>C c.697C>G Liberatore et al. (2012) AQP2_000021 - Variant found in father and affected child. DNA SEQ NDI-AQP2 Liberatore et al. (2012) F - Brazilian Nuclear family with one affected and one unaffected child. 1 LOVD
+?/+ 4 c.643G>T r.(?) p.(Gly215Cys) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 Iolascon et al. (2007) M (Italy) - Nuclear family with one affected, one unaffected child. 1 LOVD
+?/+ 4 c.646T>C r.(?) p.(Ser216Pro) Paternal (inferred) g.49955438T>C - Vargas-Poussou et al. (1997) AQP2_000010 - Variant not detected in the father. Assume de novo mutation. DNA SEQ NDI-AQP2 Vargas-Poussou et al. (1997) M Europe Caucasian Nuclear family with one affected, one unaffected offspring. 1 LOVD
+?/+ 4 c.646T>C r.(?) p.(Ser216Pro) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 Deen et al. (1994);Deen et al. (1995) M (Netherlands) - Nuclear family with one affected and 2 unaffected offspring. 1 LOVD
+?/+ 4 c.647C>T r.(?) p.(Ser216Phe) Unknown 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. DNA SEQ NDI-AQP2 Moon et al. (2009) M (Korea) - Isolated case. No data to confirm autosomal inheritance or lack of detection of a second AQP2 mutation. 1 LOVD
+?/+ 4 c.682A>G r.(?) p.(Lys228Glu) Paternal (confirmed) g.49955474A>G K228E Leduc-Nadeau et al. (2010) AQP2_000027 - Variant found in father and 2 affected sons. DNA SEQ NDI-AQP2 Leduc-Nadeau et al. (2010) M (Canada) - Nuclear family with two affected, one unaffected children. 1 Dr. Daniel Bichet
+?/+ 4 c.721del r.(?) p.(Glu241Serfs*94) Maternal (confirmed) g.49955513del - Kuwahara et al. (2001);Ohzeki et al. (1984) AQP2_000038 - Variant found in 3 affected individuals; not found in unaffected mom. DNA SEQ NDI-AQP2 Kuwahara et al. (2001);Ohzeki et al. (1984) M - Japanese Member of a 4-generation family with data on 3 affected and 1 unaffected individual. 1 LOVD
+?/+ 4 c.761G>T r.(?) p.(Arg254Leu) Paternal (inferred) 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. DNA SEQ NDI-AQP2 de Mattia et al. (2005) M (Netherlands) - Nuclear family with one affected offspring with deceased affected father. 1 LOVD
+?/+ 4 c.763_772del r.(?) p.(Gln255Serfs*77) Unknown g.49955555_49955564del - Kuwahara et al. (2001) AQP2_000039 - Variant found in affected child but in neither of her parents. DNA SEQ NDI-AQP2 Kuwahara et al. (2001) F - Japanese Nuclear family with data on 1 affected and her parents. 1 LOVD
+?/+ 4 c.785C>T r.(?) p.(Pro262Leu) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 de Mattia et al. (2004) M - - 3-generation family with data on one affected and 4 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 4 c.785C>T r.(?) p.(Pro262Leu) Maternal (confirmed) 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. DNA SEQ NDI-AQP2 de Mattia et al. (2004) F - - 3-generation family with data on one affected, 3 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 2 c.785C>T r.(?) p.(Pro262Leu) Maternal (confirmed) g.49955577C>T - Kuwahara (1998) AQP2_000033 - Variant found in affected child and his mother, not in father. DNA SEQ NDI-AQP2 Kuwahara (1998) M (Japan) - Nuclear family with one affected individual. 1 LOVD
+?/+ 4 c.812_*2del r.(?) p.(Ala271delins66aa) Unknown g.49955604_49955610del - Kuwahara et al. (2001) AQP2_000040 - Variant found in affected individual; not in his parents or his brother. DNA SEQ NDI-AQP2 - M - Japanese Member of a 4-generation family with data on one affected individual, his parents and brother. 1 LOVD
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