| NM_000486.6(AQP2):c.360+106G>A |
single nucleotide variant |
not provided [RCV001665039] |
Chr12:49951296 [GRCh38]
Chr12:50345079 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.211G>A (p.Val71Met) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001329304]|not provided [RCV000516325] |
Chr12:49951041 [GRCh38]
Chr12:50344824 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.647C>T (p.Ser216Phe) |
single nucleotide variant |
not provided [RCV000144409] |
Chr12:49955439 [GRCh38]
Chr12:50349222 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_000486.6(AQP2):c.369del (p.Asn123fs) |
deletion |
Diabetes insipidus, nephrogenic, autosomal [RCV000019409]|not provided [RCV001851943] |
Chr12:49954163 [GRCh38]
Chr12:50347946 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.721del (p.Glu241fs) |
deletion |
Diabetes insipidus, nephrogenic, autosomal [RCV000019418] |
Chr12:49955512 [GRCh38]
Chr12:50349295 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.727del (p.Asp243fs) |
deletion |
Diabetes insipidus, nephrogenic, autosomal [RCV000019419] |
Chr12:49955518 [GRCh38]
Chr12:50349301 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.140C>T (p.Ala47Val) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000778365]|not provided [RCV003558579] |
Chr12:49950970 [GRCh38]
Chr12:50344753 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_000486.6(AQP2):c.613T>C (p.Trp205Arg) |
single nucleotide variant |
not provided [RCV000722797] |
Chr12:49955405 [GRCh38]
Chr12:50349188 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.97_119del (p.Asn33fs) |
deletion |
Diabetes insipidus, nephrogenic, autosomal [RCV002490878]|not provided [RCV000518476] |
Chr12:49950919..49950941 [GRCh38]
Chr12:50344702..50344724 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001329305]|Nephrogenic diabetes insipidus [RCV001274489]|not provided [RCV000517234] |
Chr12:49951107 [GRCh38]
Chr12:50344890 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.223T>G (p.Cys75Gly) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV000029341] |
Chr12:49951053 [GRCh38]
Chr12:50344836 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.438C>T (p.Phe146=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001112351]|Nephrogenic diabetes insipidus [RCV000029342]|not provided [RCV000911729] |
Chr12:49954232 [GRCh38]
Chr12:50348015 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.560G>A (p.Arg187His) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV000029345]|not provided [RCV001852583] |
Chr12:49954664 [GRCh38]
Chr12:50348447 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.785del (p.Pro262fs) |
deletion |
Nephrogenic diabetes insipidus [RCV000029346] |
Chr12:49955576 [GRCh38]
Chr12:50349359 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.559C>T (p.Arg187Cys) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019406]|Nephrogenic diabetes insipidus [RCV000029344]|not provided [RCV000808569] |
Chr12:49954663 [GRCh38]
Chr12:50348446 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_000486.6(AQP2):c.646T>C (p.Ser216Pro) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019407] |
Chr12:49955438 [GRCh38]
Chr12:50349221 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001375962]|Nephrogenic diabetes insipidus [RCV001274488]|not provided [RCV000518067] |
Chr12:49951020 [GRCh38]
Chr12:50344803 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_000486.6(AQP2):c.439G>A (p.Ala147Thr) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019410]|Nephrogenic diabetes insipidus [RCV000029343]|not provided [RCV000803130] |
Chr12:49954233 [GRCh38]
Chr12:50348016 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|not provided |
| NM_000486.6(AQP2):c.377C>T (p.Thr126Met) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019411]|not provided [RCV001851944] |
Chr12:49954171 [GRCh38]
Chr12:50347954 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_000486.6(AQP2):c.203A>G (p.Asn68Ser) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019412] |
Chr12:49951033 [GRCh38]
Chr12:50344816 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.523G>A (p.Gly175Arg) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019413] |
Chr12:49954317 [GRCh38]
Chr12:50348100 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.772G>A (p.Glu258Lys) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019414] |
Chr12:49955564 [GRCh38]
Chr12:50349347 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.374C>T (p.Thr125Met) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019415]|not provided [RCV001230668] |
Chr12:49954168 [GRCh38]
Chr12:50347951 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.64C>G (p.Leu22Val) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019416] |
Chr12:49950894 [GRCh38]
Chr12:50344677 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.543C>G (p.Cys181Trp) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019417] |
Chr12:49954647 [GRCh38]
Chr12:50348430 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.170A>C (p.Gln57Pro) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019420]|not provided [RCV001039718] |
Chr12:49951000 [GRCh38]
Chr12:50344783 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.299G>T (p.Gly100Val) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019421]|not provided [RCV001851945] |
Chr12:49951129 [GRCh38]
Chr12:50344912 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.785C>T (p.Pro262Leu) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019422]|not provided [RCV000799304] |
Chr12:49955577 [GRCh38]
Chr12:50349360 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_000486.6(AQP2):c.568G>A (p.Ala190Thr) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000019423] |
Chr12:49954672 [GRCh38]
Chr12:50348455 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3 |
copy number gain |
See cases [RCV000051958] |
Chr12:49840075..50315208 [GRCh38]
Chr12:50233858..50708991 [GRCh37]
Chr12:48520125..48995258 [NCBI36]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.5(AQP2):c.245C>T (p.Ser82Phe) |
single nucleotide variant |
Malignant melanoma [RCV000070023] |
Chr12:49951075 [GRCh38]
Chr12:50344858 [GRCh37]
Chr12:48631125 [NCBI36]
Chr12:12q13.12 |
not provided |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_000486.6(AQP2):c.348G>T (p.Leu116=) |
single nucleotide variant |
not provided [RCV001494041] |
Chr12:49951178 [GRCh38]
Chr12:50344961 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.763C>T (p.Gln255Ter) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV004563299]|Nephrogenic diabetes insipidus [RCV001828217]|not provided [RCV000384617] |
Chr12:49955555 [GRCh38]
Chr12:50349338 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 |
copy number gain |
See cases [RCV000207454] |
Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.360+3G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000613558]|Nephrogenic diabetes insipidus [RCV001828133]|not provided [RCV001521248]|not specified [RCV000250941] |
Chr12:49951193 [GRCh38]
Chr12:50344976 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.345C>T (p.Asp115=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000322432]|Nephrogenic diabetes insipidus [RCV001833265]|not provided [RCV000960378]|not specified [RCV000246191] |
Chr12:49951175 [GRCh38]
Chr12:50344958 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.342G>A (p.Gly114=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000262274]|Nephrogenic diabetes insipidus [RCV001274490]|not provided [RCV000962255]|not specified [RCV000253956] |
Chr12:49951172 [GRCh38]
Chr12:50344955 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.39G>A (p.Val13=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111886]|Nephrogenic diabetes insipidus [RCV001828134]|not provided [RCV000950443]|not specified [RCV000254517] |
Chr12:49950869 [GRCh38]
Chr12:50344652 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*2250C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000302080] |
Chr12:49957858 [GRCh38]
Chr12:50351641 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*976A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000323428] |
Chr12:49956584 [GRCh38]
Chr12:50350367 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2616G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000305156] |
Chr12:49958224 [GRCh38]
Chr12:50352007 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*3190G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000374367] |
Chr12:49958798 [GRCh38]
Chr12:50352581 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.390G>C (p.Ala130=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000287207]|not provided [RCV001493710] |
Chr12:49954184 [GRCh38]
Chr12:50347967 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.*1218T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000326681] |
Chr12:49956826 [GRCh38]
Chr12:50350609 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.70G>A (p.Val24Ile) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000375579]|Nephrogenic diabetes insipidus [RCV001276972]|not provided [RCV000933479] |
Chr12:49950900 [GRCh38]
Chr12:50344683 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.*2795T>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000270249] |
Chr12:49958403 [GRCh38]
Chr12:50352186 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*252G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000351736] |
Chr12:49955860 [GRCh38]
Chr12:50349643 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*3002G>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000273695] |
Chr12:49958610 [GRCh38]
Chr12:50352393 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.*1395C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000330309] |
Chr12:49957003 [GRCh38]
Chr12:50350786 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*640T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000353058] |
Chr12:49956248 [GRCh38]
Chr12:50350031 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*374C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000401240] |
Chr12:49955982 [GRCh38]
Chr12:50349765 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.607-12G>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000382981]|not provided [RCV003574738] |
Chr12:49955387 [GRCh38]
Chr12:50349170 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.*907C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000358395] |
Chr12:49956515 [GRCh38]
Chr12:50350298 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*3161A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000278872] |
Chr12:49958769 [GRCh38]
Chr12:50352552 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1562T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000386906] |
Chr12:49957170 [GRCh38]
Chr12:50350953 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.-60C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000316202]|not provided [RCV004693114] |
Chr12:49950771 [GRCh38]
Chr12:50344554 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.-75G>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000261018] |
Chr12:49950756 [GRCh38]
Chr12:50344539 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*3168T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000317575] |
Chr12:49958776 [GRCh38]
Chr12:50352559 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.*1757A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000279746] |
Chr12:49957365 [GRCh38]
Chr12:50351148 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.526-5T>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000342144]|Inborn genetic diseases [RCV002520811] |
Chr12:49954625 [GRCh38]
Chr12:50348408 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1730del |
deletion |
Nephrogenic diabetes insipidus [RCV000396209]|not provided [RCV004693115] |
Chr12:49957337 [GRCh38]
Chr12:50351120 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2101C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000398305] |
Chr12:49957709 [GRCh38]
Chr12:50351492 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*118C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000399213] |
Chr12:49955726 [GRCh38]
Chr12:50349509 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2495A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000400331] |
Chr12:49958103 [GRCh38]
Chr12:50351886 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.*1684T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000352062] |
Chr12:49957292 [GRCh38]
Chr12:50351075 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.*232G>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000310933] |
Chr12:49955840 [GRCh38]
Chr12:50349623 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.*943A>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000265967] |
Chr12:49956551 [GRCh38]
Chr12:50350334 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2290CT[1] |
microsatellite |
Nephrogenic diabetes insipidus [RCV000358707] |
Chr12:49957897..49957900 [GRCh38]
Chr12:50351680..50351683 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.*1228T>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000383561] |
Chr12:49956836 [GRCh38]
Chr12:50350619 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*2048G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000337164] |
Chr12:49957656 [GRCh38]
Chr12:50351439 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.*2725A>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000362238] |
Chr12:49958333 [GRCh38]
Chr12:50352116 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.*1207T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000269481] |
Chr12:49956815 [GRCh38]
Chr12:50350598 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1243C>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000291635] |
Chr12:49956851 [GRCh38]
Chr12:50350634 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1081C>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000361646] |
Chr12:49956689 [GRCh38]
Chr12:50350472 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*3081C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000332716] |
Chr12:49958689 [GRCh38]
Chr12:50352472 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*103A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000348124] |
Chr12:49955711 [GRCh38]
Chr12:50349494 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2938C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000365912] |
Chr12:49958546 [GRCh38]
Chr12:50352329 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1599A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000294873] |
Chr12:49957207 [GRCh38]
Chr12:50350990 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*3153T>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000389640] |
Chr12:49958761 [GRCh38]
Chr12:50352544 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*485C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000298122] |
Chr12:49956093 [GRCh38]
Chr12:50349876 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*842C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000393545] |
Chr12:49956450 [GRCh38]
Chr12:50350233 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*57G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000288594] |
Chr12:49955665 [GRCh38]
Chr12:50349448 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*888G>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000301293] |
Chr12:49956496 [GRCh38]
Chr12:50350279 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2804C>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000327643] |
Chr12:49958412 [GRCh38]
Chr12:50352195 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_000486.6(AQP2):c.450T>A (p.Asp150Glu) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000778366]|Nephrogenic diabetes insipidus [RCV001834644]|not provided [RCV001377731] |
Chr12:49954244 [GRCh38]
Chr12:50348027 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|not provided |
| NM_000486.6(AQP2):c.563C>T (p.Ser188Phe) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV000494688] |
Chr12:49954667 [GRCh38]
Chr12:50348450 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NC_000012.11:g.26370251_54361538inv |
inversion |
not specified [RCV000714265] |
Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13 |
uncertain significance |
| NM_000486.6(AQP2):c.501T>C (p.Ser167=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001537964]|Nephrogenic diabetes insipidus [RCV001834921]|not provided [RCV001512354]|not specified [RCV000612846] |
Chr12:49954295 [GRCh38]
Chr12:50348078 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.62T>C (p.Leu21Pro) |
single nucleotide variant |
not provided [RCV000722991] |
Chr12:49950892 [GRCh38]
Chr12:50344675 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12q13.12(chr12:50347938-50355812)x1 |
copy number loss |
not provided [RCV000737874] |
Chr12:50347938..50355812 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12q13.12(chr12:50347938-50355834)x0 |
copy number loss |
not provided [RCV000737875] |
Chr12:50347938..50355834 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12q13.12(chr12:50348078-50355756)x0 |
copy number loss |
not provided [RCV000737876] |
Chr12:50348078..50355756 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12q13.12(chr12:50348078-50355812)x1 |
copy number loss |
not provided [RCV000737877] |
Chr12:50348078..50355812 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12q13.12(chr12:50344955-50355812)x1 |
copy number loss |
not provided [RCV000750400] |
Chr12:50344955..50355812 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12q13.12(chr12:50344955-50355834)x1 |
copy number loss |
not provided [RCV000750401] |
Chr12:50344955..50355834 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12q13.12(chr12:50344955-50358054)x1 |
copy number loss |
not provided [RCV000750402] |
Chr12:50344955..50358054 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12q13.12(chr12:50344976-50355665)x1 |
copy number loss |
not provided [RCV000750403] |
Chr12:50344976..50355665 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12q13.12(chr12:50344976-50355834)x1 |
copy number loss |
not provided [RCV000750404] |
Chr12:50344976..50355834 [GRCh37]
Chr12:12q13.12 |
benign |
| GRCh37/hg19 12q13.12(chr12:50347938-50355665)x1 |
copy number loss |
not provided [RCV000750405] |
Chr12:50347938..50355665 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.767C>A (p.Ser256Ter) |
single nucleotide variant |
not provided [RCV001054068] |
Chr12:49955559 [GRCh38]
Chr12:50349342 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.155T>C (p.Ile52Thr) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001580625] |
Chr12:49950985 [GRCh38]
Chr12:50344768 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.246C>T (p.Ser82=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001112349]|not provided [RCV000944867] |
Chr12:49951076 [GRCh38]
Chr12:50344859 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.324G>A (p.Thr108=) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV001827032]|not provided [RCV000945201] |
Chr12:49951154 [GRCh38]
Chr12:50344937 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.297C>T (p.Ala99=) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV001836053]|not provided [RCV000982482] |
Chr12:49951127 [GRCh38]
Chr12:50344910 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.750G>A (p.Glu250=) |
single nucleotide variant |
not provided [RCV000942450] |
Chr12:49955542 [GRCh38]
Chr12:50349325 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.387G>A (p.Gln129=) |
single nucleotide variant |
not provided [RCV000971590] |
Chr12:49954181 [GRCh38]
Chr12:50347964 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.702G>A (p.Leu234=) |
single nucleotide variant |
AQP2-related disorder [RCV003950505]|Nephrogenic diabetes insipidus [RCV001276978]|not provided [RCV000898073] |
Chr12:49955494 [GRCh38]
Chr12:50349277 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_000486.6(AQP2):c.162C>G (p.Thr54=) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV001832289]|not provided [RCV000982333] |
Chr12:49950992 [GRCh38]
Chr12:50344775 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.153dup (p.Ile52fs) |
duplication |
not provided [RCV001050844] |
Chr12:49950982..49950983 [GRCh38]
Chr12:50344765..50344766 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.418C>T (p.Gln140Ter) |
single nucleotide variant |
not provided [RCV001049219] |
Chr12:49954212 [GRCh38]
Chr12:50347995 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.258C>T (p.Ala86=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV002502853]|not provided [RCV000932782] |
Chr12:49951088 [GRCh38]
Chr12:50344871 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.768G>C (p.Ser256=) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV001827099]|not provided [RCV000980390] |
Chr12:49955560 [GRCh38]
Chr12:50349343 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.640C>T (p.Leu214=) |
single nucleotide variant |
not provided [RCV000981579] |
Chr12:49955432 [GRCh38]
Chr12:50349215 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.276C>G (p.Ala92=) |
single nucleotide variant |
not provided [RCV000928266] |
Chr12:49951106 [GRCh38]
Chr12:50344889 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.378G>A (p.Thr126=) |
single nucleotide variant |
not provided [RCV000943430] |
Chr12:49954172 [GRCh38]
Chr12:50347955 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.558C>A (p.Ala186=) |
single nucleotide variant |
not provided [RCV000893794] |
Chr12:49954662 [GRCh38]
Chr12:50348445 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.501= (p.Ser167=) |
variation |
not provided [RCV000948888] |
Chr12:49954295 [GRCh38]
Chr12:50348078 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.607-3del |
deletion |
Nephrogenic diabetes insipidus [RCV001276977]|not provided [RCV000942142] |
Chr12:49955392 [GRCh38]
Chr12:50349175 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.447C>T (p.Thr149=) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV001277408]|not provided [RCV000942250] |
Chr12:49954241 [GRCh38]
Chr12:50348024 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.579C>T (p.Val193=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113706]|Nephrogenic diabetes insipidus [RCV001830945]|not provided [RCV000891766] |
Chr12:49954683 [GRCh38]
Chr12:50348466 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.659A>C (p.Asn220Thr) |
single nucleotide variant |
not provided [RCV000916202] |
Chr12:49955451 [GRCh38]
Chr12:50349234 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.*2961C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113974] |
Chr12:49958569 [GRCh38]
Chr12:50352352 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2099T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113867] |
Chr12:49957707 [GRCh38]
Chr12:50351490 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2359T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113868] |
Chr12:49957967 [GRCh38]
Chr12:50351750 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2488T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113869] |
Chr12:49958096 [GRCh38]
Chr12:50351879 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.460G>T (p.Gly154Ter) |
single nucleotide variant |
not provided [RCV001051948] |
Chr12:49954254 [GRCh38]
Chr12:50348037 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.*1001G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113789] |
Chr12:49956609 [GRCh38]
Chr12:50350392 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.*425T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001112443] |
Chr12:49956033 [GRCh38]
Chr12:50349816 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.*321G>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111990] |
Chr12:49955929 [GRCh38]
Chr12:50349712 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*375G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111991] |
Chr12:49955983 [GRCh38]
Chr12:50349766 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1793C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110556] |
Chr12:49957401 [GRCh38]
Chr12:50351184 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1873G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110557] |
Chr12:49957481 [GRCh38]
Chr12:50351264 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.*2869G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110648] |
Chr12:49958477 [GRCh38]
Chr12:50352260 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.-93G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109596] |
Chr12:49950738 [GRCh38]
Chr12:50344521 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*3172G>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109935] |
Chr12:49958780 [GRCh38]
Chr12:50352563 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*3247A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109937] |
Chr12:49958855 [GRCh38]
Chr12:50352638 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.204C>T (p.Asn68=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001112348]|Nephrogenic diabetes insipidus [RCV001825788]|not provided [RCV000885952] |
Chr12:49951034 [GRCh38]
Chr12:50344817 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.510G>C (p.Leu170=) |
single nucleotide variant |
not provided [RCV000979958] |
Chr12:49954304 [GRCh38]
Chr12:50348087 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.459C>T (p.Arg153=) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV001276975]|not provided [RCV000908394] |
Chr12:49954253 [GRCh38]
Chr12:50348036 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.141G>A (p.Ala47=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111887]|Nephrogenic diabetes insipidus [RCV001276973]|not provided [RCV000908482] |
Chr12:49950971 [GRCh38]
Chr12:50344754 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.189C>T (p.Ser63=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111888]|Nephrogenic diabetes insipidus [RCV001276974]|not provided [RCV000941537] |
Chr12:49951019 [GRCh38]
Chr12:50344802 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.537C>T (p.Thr179=) |
single nucleotide variant |
not provided [RCV000938735] |
Chr12:49954641 [GRCh38]
Chr12:50348424 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.456C>A (p.Arg152=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113703] |
Chr12:49954250 [GRCh38]
Chr12:50348033 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.460G>A (p.Gly154Arg) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113704]|Inborn genetic diseases [RCV002556218] |
Chr12:49954254 [GRCh38]
Chr12:50348037 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.471G>A (p.Pro157=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113705]|Nephrogenic diabetes insipidus [RCV001276976]|not provided [RCV000913628] |
Chr12:49954265 [GRCh38]
Chr12:50348048 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.339C>T (p.Arg113=) |
single nucleotide variant |
not provided [RCV000913921] |
Chr12:49951169 [GRCh38]
Chr12:50344952 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.*20C>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV002260428] |
Chr12:49955628 [GRCh38]
Chr12:50349411 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.526-1G>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001027983] |
Chr12:49954629 [GRCh38]
Chr12:50348412 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.360+327G>A |
single nucleotide variant |
not provided [RCV001595600] |
Chr12:49951517 [GRCh38]
Chr12:50345300 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.526-54T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV002260226]|not provided [RCV001614243] |
Chr12:49954576 [GRCh38]
Chr12:50348359 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.606+181C>T |
single nucleotide variant |
not provided [RCV001686621] |
Chr12:49954891 [GRCh38]
Chr12:50348674 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.607-221A>G |
single nucleotide variant |
not provided [RCV001678037] |
Chr12:49955178 [GRCh38]
Chr12:50348961 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.-75G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109597] |
Chr12:49950756 [GRCh38]
Chr12:50344539 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.-65G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109598] |
Chr12:49950766 [GRCh38]
Chr12:50344549 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.626T>C (p.Leu209Pro) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109687] |
Chr12:49955418 [GRCh38]
Chr12:50349201 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.735T>C (p.Asp245=) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109688]|Hereditary disease [RCV001824166]|not provided [RCV001467590] |
Chr12:49955527 [GRCh38]
Chr12:50349310 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.*108A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109689] |
Chr12:49955716 [GRCh38]
Chr12:50349499 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.*1270C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109766] |
Chr12:49956878 [GRCh38]
Chr12:50350661 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1315G>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109767] |
Chr12:49956923 [GRCh38]
Chr12:50350706 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*3203G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001109936] |
Chr12:49958811 [GRCh38]
Chr12:50352594 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.-59G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111883] |
Chr12:49950772 [GRCh38]
Chr12:50344555 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.32G>A (p.Arg11Lys) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111885] |
Chr12:49950862 [GRCh38]
Chr12:50344645 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.-16C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111884] |
Chr12:49950815 [GRCh38]
Chr12:50344598 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*250A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111989] |
Chr12:49955858 [GRCh38]
Chr12:50349641 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*602A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001112445] |
Chr12:49956210 [GRCh38]
Chr12:50349993 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1646C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110555] |
Chr12:49957254 [GRCh38]
Chr12:50351037 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*1889C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110558] |
Chr12:49957497 [GRCh38]
Chr12:50351280 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2072T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110559] |
Chr12:49957680 [GRCh38]
Chr12:50351463 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2715C>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110645] |
Chr12:49958323 [GRCh38]
Chr12:50352106 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2836C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110646] |
Chr12:49958444 [GRCh38]
Chr12:50352227 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2838C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110647] |
Chr12:49958446 [GRCh38]
Chr12:50352229 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*2937T>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001110649] |
Chr12:49958545 [GRCh38]
Chr12:50352328 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.360+126G>A |
single nucleotide variant |
not provided [RCV001724613] |
Chr12:49951316 [GRCh38]
Chr12:50345099 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.*121C>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001111988] |
Chr12:49955729 [GRCh38]
Chr12:50349512 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.391G>A (p.Val131Met) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001112350]|Inborn genetic diseases [RCV002555087] |
Chr12:49954185 [GRCh38]
Chr12:50347968 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*873C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001112446] |
Chr12:49956481 [GRCh38]
Chr12:50350264 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.606+14C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113707]|not provided [RCV003558676] |
Chr12:49954724 [GRCh38]
Chr12:50348507 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.*1065G>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113790] |
Chr12:49956673 [GRCh38]
Chr12:50350456 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*3104G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001113975] |
Chr12:49958712 [GRCh38]
Chr12:50352495 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.*530C>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001112444] |
Chr12:49956138 [GRCh38]
Chr12:50349921 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.607-92A>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001537966]|not provided [RCV001534533] |
Chr12:49955307 [GRCh38]
Chr12:50349090 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.375del (p.Thr126fs) |
deletion |
Nephrogenic diabetes insipidus [RCV001328238] |
Chr12:49954169 [GRCh38]
Chr12:50347952 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.303C>T (p.Ala101=) |
single nucleotide variant |
not provided [RCV001415471] |
Chr12:49951133 [GRCh38]
Chr12:50344916 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.732C>T (p.Thr244=) |
single nucleotide variant |
not provided [RCV001415480] |
Chr12:49955524 [GRCh38]
Chr12:50349307 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-253T>C |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001537965]|not provided [RCV001685454] |
Chr12:49955146 [GRCh38]
Chr12:50348929 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.135C>T (p.Ala45=) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV001277407] |
Chr12:49950965 [GRCh38]
Chr12:50344748 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.69C>T (p.Phe23=) |
single nucleotide variant |
not provided [RCV001433673] |
Chr12:49950899 [GRCh38]
Chr12:50344682 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.106C>T (p.Gln36Ter) |
single nucleotide variant |
not provided [RCV001900674] |
Chr12:49950936 [GRCh38]
Chr12:50344719 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.797_*17del (p.Pro266fs) |
deletion |
Diabetes insipidus, nephrogenic, autosomal [RCV001281166] |
Chr12:49955588..49955624 [GRCh38]
Chr12:50349371..50349407 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001329306] |
Chr12:49955574 [GRCh38]
Chr12:50349357 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.630G>C (p.Val210=) |
single nucleotide variant |
not provided [RCV001412360] |
Chr12:49955422 [GRCh38]
Chr12:50349205 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.340G>A (p.Gly114Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002552683]|not provided [RCV001396292] |
Chr12:49951170 [GRCh38]
Chr12:50344953 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001293732] |
Chr12:49950833 [GRCh38]
Chr12:50344616 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.525+9T>C |
single nucleotide variant |
not provided [RCV001395241] |
Chr12:49954328 [GRCh38]
Chr12:50348111 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.162C>T (p.Thr54=) |
single nucleotide variant |
not provided [RCV001465038] |
Chr12:49950992 [GRCh38]
Chr12:50344775 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.393G>A (p.Val131=) |
single nucleotide variant |
not provided [RCV001485476] |
Chr12:49954187 [GRCh38]
Chr12:50347970 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.786G>A (p.Pro262=) |
single nucleotide variant |
not provided [RCV001458974] |
Chr12:49955578 [GRCh38]
Chr12:50349361 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.375G>A (p.Thr125=) |
single nucleotide variant |
not provided [RCV001488483]|not specified [RCV003399252] |
Chr12:49954169 [GRCh38]
Chr12:50347952 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_000486.6(AQP2):c.775C>T (p.Leu259=) |
single nucleotide variant |
not provided [RCV001415580] |
Chr12:49955567 [GRCh38]
Chr12:50349350 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.360+292A>G |
single nucleotide variant |
not provided [RCV001536922] |
Chr12:49951482 [GRCh38]
Chr12:50345265 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.114G>A (p.Leu38=) |
single nucleotide variant |
not provided [RCV001460710] |
Chr12:49950944 [GRCh38]
Chr12:50344727 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.409C>T (p.Leu137=) |
single nucleotide variant |
not provided [RCV001448877] |
Chr12:49954203 [GRCh38]
Chr12:50347986 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-4C>T |
single nucleotide variant |
not provided [RCV001409828] |
Chr12:49955395 [GRCh38]
Chr12:50349178 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.582C>T (p.Val194=) |
single nucleotide variant |
not provided [RCV001446800] |
Chr12:49954686 [GRCh38]
Chr12:50348469 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.307C>T (p.Leu103=) |
single nucleotide variant |
not provided [RCV001410691] |
Chr12:49951137 [GRCh38]
Chr12:50344920 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.351T>C (p.Ala117=) |
single nucleotide variant |
not provided [RCV001419503] |
Chr12:49951181 [GRCh38]
Chr12:50344964 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.309G>A (p.Leu103=) |
single nucleotide variant |
not provided [RCV001411141] |
Chr12:49951139 [GRCh38]
Chr12:50344922 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NC_000012.11:g.(?_50347928)_(50349401_?)del |
deletion |
not provided [RCV001378822] |
Chr12:50347928..50349401 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.786G>T (p.Pro262=) |
single nucleotide variant |
not provided [RCV001411625] |
Chr12:49955578 [GRCh38]
Chr12:50349361 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.456C>T (p.Arg152=) |
single nucleotide variant |
not provided [RCV001506098] |
Chr12:49954250 [GRCh38]
Chr12:50348033 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.303C>G (p.Ala101=) |
single nucleotide variant |
not provided [RCV001490246] |
Chr12:49951133 [GRCh38]
Chr12:50344916 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.63C>T (p.Leu21=) |
single nucleotide variant |
not provided [RCV001454360] |
Chr12:49950893 [GRCh38]
Chr12:50344676 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.390G>A (p.Ala130=) |
single nucleotide variant |
not provided [RCV001473525] |
Chr12:49954184 [GRCh38]
Chr12:50347967 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.361-250T>G |
single nucleotide variant |
not provided [RCV001650777] |
Chr12:49953905 [GRCh38]
Chr12:50347688 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.361-10C>T |
single nucleotide variant |
not provided [RCV001462036] |
Chr12:49954145 [GRCh38]
Chr12:50347928 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.210C>T (p.Ala70=) |
single nucleotide variant |
not provided [RCV001496305] |
Chr12:49951040 [GRCh38]
Chr12:50344823 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-59C>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001537967]|not provided [RCV001595096] |
Chr12:49955340 [GRCh38]
Chr12:50349123 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.180C>T (p.Gly60=) |
single nucleotide variant |
not provided [RCV001469828] |
Chr12:49951010 [GRCh38]
Chr12:50344793 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.267C>T (p.Tyr89=) |
single nucleotide variant |
not provided [RCV001469955] |
Chr12:49951097 [GRCh38]
Chr12:50344880 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.84C>T (p.Leu28=) |
single nucleotide variant |
not provided [RCV001503808] |
Chr12:49950914 [GRCh38]
Chr12:50344697 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.78T>C (p.Phe26=) |
single nucleotide variant |
not provided [RCV001504240] |
Chr12:49950908 [GRCh38]
Chr12:50344691 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.9G>A (p.Glu3=) |
single nucleotide variant |
not provided [RCV001488202] |
Chr12:49950839 [GRCh38]
Chr12:50344622 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.360+233G>A |
single nucleotide variant |
not provided [RCV001687957] |
Chr12:49951423 [GRCh38]
Chr12:50345206 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.433A>G (p.Ile145Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003355489]|not provided [RCV001463991] |
Chr12:49954227 [GRCh38]
Chr12:50348010 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_000486.6(AQP2):c.423G>A (p.Leu141=) |
single nucleotide variant |
not provided [RCV001498677] |
Chr12:49954217 [GRCh38]
Chr12:50348000 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.240C>T (p.His80=) |
single nucleotide variant |
not provided [RCV001428467] |
Chr12:49951070 [GRCh38]
Chr12:50344853 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.618C>T (p.Ile206=) |
single nucleotide variant |
not provided [RCV001486460] |
Chr12:49955410 [GRCh38]
Chr12:50349193 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.363C>G (p.Leu121=) |
single nucleotide variant |
not provided [RCV001486021] |
Chr12:49954157 [GRCh38]
Chr12:50347940 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.526-7A>G |
single nucleotide variant |
not provided [RCV001477545] |
Chr12:49954623 [GRCh38]
Chr12:50348406 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.726G>A (p.Pro242=) |
single nucleotide variant |
not provided [RCV001425379] |
Chr12:49955518 [GRCh38]
Chr12:50349301 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.423G>T (p.Leu141=) |
single nucleotide variant |
not provided [RCV001415522] |
Chr12:49954217 [GRCh38]
Chr12:50348000 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.361-8G>C |
single nucleotide variant |
not provided [RCV001480786] |
Chr12:49954147 [GRCh38]
Chr12:50347930 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.705A>G (p.Ala235=) |
single nucleotide variant |
not provided [RCV001454891] |
Chr12:49955497 [GRCh38]
Chr12:50349280 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-39C>G |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV001537997]|not provided [RCV001655830] |
Chr12:49955360 [GRCh38]
Chr12:50349143 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_000486.6(AQP2):c.606+8C>G |
single nucleotide variant |
not provided [RCV001441442] |
Chr12:49954718 [GRCh38]
Chr12:50348501 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.298G>A (p.Gly100Arg) |
single nucleotide variant |
not provided [RCV002540722] |
Chr12:49951128 [GRCh38]
Chr12:50344911 [GRCh37]
Chr12:12q13.12 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000486.6(AQP2):c.253C>T (p.Arg85Ter) |
single nucleotide variant |
not provided [RCV001970106] |
Chr12:49951083 [GRCh38]
Chr12:50344866 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.360+5G>T |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV002052064] |
Chr12:49951195 [GRCh38]
Chr12:50344978 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.127_128del (p.Gln43fs) |
deletion |
Diabetes insipidus, nephrogenic, autosomal [RCV002052161] |
Chr12:49950956..49950957 [GRCh38]
Chr12:50344739..50344740 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.501_502inv (p.Val168Met) |
inversion |
not provided [RCV002000004] |
Chr12:49954295..49954296 [GRCh38]
Chr12:50348078..50348079 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.559C>G (p.Arg187Gly) |
single nucleotide variant |
not provided [RCV002000664] |
Chr12:49954663 [GRCh38]
Chr12:50348446 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.360+1G>A |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV002498061]|not provided [RCV002026698] |
Chr12:49951191 [GRCh38]
Chr12:50344974 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.117C>T (p.Pro39=) |
single nucleotide variant |
not provided [RCV001875243] |
Chr12:49950947 [GRCh38]
Chr12:50344730 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.127C>T (p.Gln43Ter) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV002507699]|Nephrogenic diabetes insipidus [RCV004017885]|not provided [RCV001939528] |
Chr12:49950957 [GRCh38]
Chr12:50344740 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NC_000012.11:g.(?_50348473)_(50357918_?)del |
deletion |
not provided [RCV001939642] |
Chr12:50348473..50357918 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.246C>G (p.Ser82=) |
single nucleotide variant |
not provided [RCV002071446] |
Chr12:49951076 [GRCh38]
Chr12:50344859 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.625C>G (p.Leu209Val) |
single nucleotide variant |
not provided [RCV002207002] |
Chr12:49955417 [GRCh38]
Chr12:50349200 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.276C>A (p.Ala92=) |
single nucleotide variant |
not provided [RCV002208829] |
Chr12:49951106 [GRCh38]
Chr12:50344889 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.480T>C (p.Pro160=) |
single nucleotide variant |
not provided [RCV002073855] |
Chr12:49954274 [GRCh38]
Chr12:50348057 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.561C>A (p.Arg187=) |
single nucleotide variant |
not provided [RCV002187238] |
Chr12:49954665 [GRCh38]
Chr12:50348448 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.357T>C (p.Asn119=) |
single nucleotide variant |
not provided [RCV002074852] |
Chr12:49951187 [GRCh38]
Chr12:50344970 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.129G>A (p.Gln43=) |
single nucleotide variant |
not provided [RCV002187372] |
Chr12:49950959 [GRCh38]
Chr12:50344742 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.726G>C (p.Pro242=) |
single nucleotide variant |
not provided [RCV002104607] |
Chr12:49955518 [GRCh38]
Chr12:50349301 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.576T>G (p.Ala192=) |
single nucleotide variant |
not provided [RCV002091612] |
Chr12:49954680 [GRCh38]
Chr12:50348463 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.519C>G (p.Leu173=) |
single nucleotide variant |
not provided [RCV002106679] |
Chr12:49954313 [GRCh38]
Chr12:50348096 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.312C>T (p.Leu104=) |
single nucleotide variant |
not provided [RCV002209789] |
Chr12:49951142 [GRCh38]
Chr12:50344925 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.471G>T (p.Pro157=) |
single nucleotide variant |
not provided [RCV002090035] |
Chr12:49954265 [GRCh38]
Chr12:50348048 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.291T>C (p.Ala97=) |
single nucleotide variant |
not provided [RCV002152350] |
Chr12:49951121 [GRCh38]
Chr12:50344904 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.42C>T (p.Phe14=) |
single nucleotide variant |
not provided [RCV002213423] |
Chr12:49950872 [GRCh38]
Chr12:50344655 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.361-9T>C |
single nucleotide variant |
not provided [RCV002211617] |
Chr12:49954146 [GRCh38]
Chr12:50347929 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.255A>G (p.Arg85=) |
single nucleotide variant |
not provided [RCV002153544] |
Chr12:49951085 [GRCh38]
Chr12:50344868 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.273T>C (p.Ala91=) |
single nucleotide variant |
not provided [RCV002130416] |
Chr12:49951103 [GRCh38]
Chr12:50344886 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.294G>A (p.Val98=) |
single nucleotide variant |
not provided [RCV002147301] |
Chr12:49951124 [GRCh38]
Chr12:50344907 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.633C>T (p.Gly211=) |
single nucleotide variant |
not provided [RCV002086968] |
Chr12:49955425 [GRCh38]
Chr12:50349208 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.717C>G (p.Gly239=) |
single nucleotide variant |
not provided [RCV002092935] |
Chr12:49955509 [GRCh38]
Chr12:50349292 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.729C>T (p.Asp243=) |
single nucleotide variant |
not provided [RCV002173277] |
Chr12:49955521 [GRCh38]
Chr12:50349304 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.163C>T (p.Leu55=) |
single nucleotide variant |
not provided [RCV002073941] |
Chr12:49950993 [GRCh38]
Chr12:50344776 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.255A>T (p.Arg85=) |
single nucleotide variant |
not provided [RCV002218669] |
Chr12:49951085 [GRCh38]
Chr12:50344868 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.339C>A (p.Arg113=) |
single nucleotide variant |
not provided [RCV002178345] |
Chr12:49951169 [GRCh38]
Chr12:50344952 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.606+9T>C |
single nucleotide variant |
not provided [RCV002182637] |
Chr12:49954719 [GRCh38]
Chr12:50348502 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.237C>T (p.Cys79=) |
single nucleotide variant |
not provided [RCV002200581] |
Chr12:49951067 [GRCh38]
Chr12:50344850 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.444C>T (p.Ser148=) |
single nucleotide variant |
not provided [RCV002158770] |
Chr12:49954238 [GRCh38]
Chr12:50348021 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.582C>A (p.Val194=) |
single nucleotide variant |
not provided [RCV002198210] |
Chr12:49954686 [GRCh38]
Chr12:50348469 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.63C>G (p.Leu21=) |
single nucleotide variant |
not provided [RCV002098507] |
Chr12:49950893 [GRCh38]
Chr12:50344676 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.801G>C (p.Arg267=) |
single nucleotide variant |
not provided [RCV002120018] |
Chr12:49955593 [GRCh38]
Chr12:50349376 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.606+10G>A |
single nucleotide variant |
not provided [RCV002182023] |
Chr12:49954720 [GRCh38]
Chr12:50348503 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.51C>T (p.Phe17=) |
single nucleotide variant |
not provided [RCV002157672] |
Chr12:49950881 [GRCh38]
Chr12:50344664 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.778C>A (p.His260Asn) |
single nucleotide variant |
not provided [RCV003112758] |
Chr12:49955570 [GRCh38]
Chr12:50349353 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.741G>A (p.Glu247=) |
single nucleotide variant |
not provided [RCV003115628] |
Chr12:49955533 [GRCh38]
Chr12:50349316 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-7C>T |
single nucleotide variant |
not provided [RCV003115756] |
Chr12:49955392 [GRCh38]
Chr12:50349175 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.20T>C (p.Ile7Thr) |
single nucleotide variant |
not provided [RCV003121408] |
Chr12:49950850 [GRCh38]
Chr12:50344633 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.518T>G (p.Leu173Arg) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV002226881] |
Chr12:49954312 [GRCh38]
Chr12:50348095 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| GRCh37/hg19 12q13.12(chr12:50331947-50439383)x3 |
copy number gain |
not provided [RCV002291539] |
Chr12:50331947..50439383 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.502G>A (p.Val168Met) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV002502089] |
Chr12:49954296 [GRCh38]
Chr12:50348079 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.297C>G (p.Ala99=) |
single nucleotide variant |
not provided [RCV003014896] |
Chr12:49951127 [GRCh38]
Chr12:50344910 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.85G>A (p.Gly29Ser) |
single nucleotide variant |
Nephrogenic diabetes insipidus [RCV003235748]|not provided [RCV002947905] |
Chr12:49950915 [GRCh38]
Chr12:50344698 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_000486.6(AQP2):c.398_399del (p.Val133fs) |
microsatellite |
not provided [RCV002908924] |
Chr12:49954190..49954191 [GRCh38]
Chr12:50347973..50347974 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.471G>C (p.Pro157=) |
single nucleotide variant |
not provided [RCV002838628] |
Chr12:49954265 [GRCh38]
Chr12:50348048 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.414A>G (p.Thr138=) |
single nucleotide variant |
not provided [RCV003033817] |
Chr12:49954208 [GRCh38]
Chr12:50347991 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.564C>T (p.Ser188=) |
single nucleotide variant |
not provided [RCV003016286] |
Chr12:49954668 [GRCh38]
Chr12:50348451 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.770T>C (p.Val257Ala) |
single nucleotide variant |
not provided [RCV002510129] |
Chr12:49955562 [GRCh38]
Chr12:50349345 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.60A>G (p.Thr20=) |
single nucleotide variant |
not provided [RCV003020038] |
Chr12:49950890 [GRCh38]
Chr12:50344673 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.768G>A (p.Ser256=) |
single nucleotide variant |
not provided [RCV002705316] |
Chr12:49955560 [GRCh38]
Chr12:50349343 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.24C>G (p.Ala8=) |
single nucleotide variant |
not provided [RCV002796311] |
Chr12:49950854 [GRCh38]
Chr12:50344637 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.693G>A (p.Ser231=) |
single nucleotide variant |
not provided [RCV002825022] |
Chr12:49955485 [GRCh38]
Chr12:50349268 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.468C>T (p.Asn156=) |
single nucleotide variant |
not provided [RCV003077749] |
Chr12:49954262 [GRCh38]
Chr12:50348045 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.261_283del (p.Phe88fs) |
deletion |
not provided [RCV003038559] |
Chr12:49951089..49951111 [GRCh38]
Chr12:50344872..50344894 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.690G>A (p.Leu230=) |
single nucleotide variant |
not provided [RCV002706709] |
Chr12:49955482 [GRCh38]
Chr12:50349265 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.297C>A (p.Ala99=) |
single nucleotide variant |
not provided [RCV002867542] |
Chr12:49951127 [GRCh38]
Chr12:50344910 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.287G>A (p.Gly96Glu) |
single nucleotide variant |
not provided [RCV002509949] |
Chr12:49951117 [GRCh38]
Chr12:50344900 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.102_104del (p.Trp34_Pro35delinsTer) |
deletion |
not provided [RCV002796928] |
Chr12:49950932..49950934 [GRCh38]
Chr12:50344715..50344717 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.656A>G (p.Tyr219Cys) |
single nucleotide variant |
not provided [RCV002791010] |
Chr12:49955448 [GRCh38]
Chr12:50349231 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.744G>A (p.Glu248=) |
single nucleotide variant |
not provided [RCV002740909] |
Chr12:49955536 [GRCh38]
Chr12:50349319 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.177G>A (p.Leu59=) |
single nucleotide variant |
not provided [RCV003057224] |
Chr12:49951007 [GRCh38]
Chr12:50344790 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-1G>A |
single nucleotide variant |
not provided [RCV003058381] |
Chr12:49955398 [GRCh38]
Chr12:50349181 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.651C>T (p.Leu217=) |
single nucleotide variant |
not provided [RCV002890907] |
Chr12:49955443 [GRCh38]
Chr12:50349226 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.486C>G (p.Leu162=) |
single nucleotide variant |
not provided [RCV003005511] |
Chr12:49954280 [GRCh38]
Chr12:50348063 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.14G>A (p.Arg5His) |
single nucleotide variant |
Inborn genetic diseases [RCV002647707]|not provided [RCV002663947] |
Chr12:49950844 [GRCh38]
Chr12:50344627 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.240del (p.His80fs) |
deletion |
not provided [RCV003039738] |
Chr12:49951070 [GRCh38]
Chr12:50344853 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.606+1G>A |
single nucleotide variant |
not provided [RCV003041156] |
Chr12:49954711 [GRCh38]
Chr12:50348494 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.614G>T (p.Trp205Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002712202] |
Chr12:49955406 [GRCh38]
Chr12:50349189 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.361-2A>G |
single nucleotide variant |
not provided [RCV002741398] |
Chr12:49954153 [GRCh38]
Chr12:50347936 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.745C>A (p.Arg249Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002896333] |
Chr12:49955537 [GRCh38]
Chr12:50349320 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.707_720dup (p.Glu241delinsCysTer) |
duplication |
not provided [RCV003087763] |
Chr12:49955497..49955498 [GRCh38]
Chr12:50349280..50349281 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.585T>C (p.Thr195=) |
single nucleotide variant |
not provided [RCV003030574] |
Chr12:49954689 [GRCh38]
Chr12:50348472 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-2A>G |
single nucleotide variant |
not provided [RCV003062515] |
Chr12:49955397 [GRCh38]
Chr12:50349180 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.13C>T (p.Arg5Cys) |
single nucleotide variant |
not provided [RCV002598813] |
Chr12:49950843 [GRCh38]
Chr12:50344626 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.247G>A (p.Val83Ile) |
single nucleotide variant |
not provided [RCV003093259] |
Chr12:49951077 [GRCh38]
Chr12:50344860 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.304G>A (p.Ala102Thr) |
single nucleotide variant |
not provided [RCV003071752] |
Chr12:49951134 [GRCh38]
Chr12:50344917 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.262T>G (p.Phe88Val) |
single nucleotide variant |
not provided [RCV003069522] |
Chr12:49951092 [GRCh38]
Chr12:50344875 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.732C>G (p.Thr244=) |
single nucleotide variant |
not provided [RCV002587314] |
Chr12:49955524 [GRCh38]
Chr12:50349307 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.499T>C (p.Ser167Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003216089] |
Chr12:49954293 [GRCh38]
Chr12:50348076 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.776T>C (p.Leu259Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003200805] |
Chr12:49955568 [GRCh38]
Chr12:50349351 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.455G>A (p.Arg152His) |
single nucleotide variant |
Inborn genetic diseases [RCV003349581] |
Chr12:49954249 [GRCh38]
Chr12:50348032 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.792C>T (p.Ser264=) |
single nucleotide variant |
not provided [RCV003569836] |
Chr12:49955584 [GRCh38]
Chr12:50349367 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.552T>C (p.Asn184=) |
single nucleotide variant |
not provided [RCV003568889] |
Chr12:49954656 [GRCh38]
Chr12:50348439 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.288G>T (p.Gly96=) |
single nucleotide variant |
not provided [RCV003874929] |
Chr12:49951118 [GRCh38]
Chr12:50344901 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.446C>A (p.Thr149Asn) |
single nucleotide variant |
not provided [RCV003666247] |
Chr12:49954240 [GRCh38]
Chr12:50348023 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.315T>C (p.His105=) |
single nucleotide variant |
not provided [RCV003849000] |
Chr12:49951145 [GRCh38]
Chr12:50344928 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.500dup (p.Val168fs) |
duplication |
not provided [RCV003547312] |
Chr12:49954293..49954294 [GRCh38]
Chr12:50348076..50348077 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.360+17T>A |
single nucleotide variant |
not provided [RCV003878261] |
Chr12:49951207 [GRCh38]
Chr12:50344990 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.361-20C>T |
single nucleotide variant |
not provided [RCV003575857] |
Chr12:49954135 [GRCh38]
Chr12:50347918 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.24C>T (p.Ala8=) |
single nucleotide variant |
not provided [RCV003688308] |
Chr12:49950854 [GRCh38]
Chr12:50344637 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.690G>C (p.Leu230=) |
single nucleotide variant |
not provided [RCV003547729] |
Chr12:49955482 [GRCh38]
Chr12:50349265 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.526-2A>G |
single nucleotide variant |
not provided [RCV003577414] |
Chr12:49954628 [GRCh38]
Chr12:50348411 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_000486.6(AQP2):c.526-16C>G |
single nucleotide variant |
not provided [RCV003738966] |
Chr12:49954614 [GRCh38]
Chr12:50348397 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.792C>G (p.Ser264Arg) |
single nucleotide variant |
not provided [RCV003695849] |
Chr12:49955584 [GRCh38]
Chr12:50349367 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.681C>A (p.Ala227=) |
single nucleotide variant |
not provided [RCV003686512] |
Chr12:49955473 [GRCh38]
Chr12:50349256 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.351T>A (p.Ala117=) |
single nucleotide variant |
not provided [RCV003547412] |
Chr12:49951181 [GRCh38]
Chr12:50344964 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.429C>A (p.Leu143=) |
single nucleotide variant |
not provided [RCV003687696] |
Chr12:49954223 [GRCh38]
Chr12:50348006 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.87C>T (p.Gly29=) |
single nucleotide variant |
not provided [RCV003545023] |
Chr12:49950917 [GRCh38]
Chr12:50344700 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.606+7G>A |
single nucleotide variant |
not provided [RCV003714227] |
Chr12:49954717 [GRCh38]
Chr12:50348500 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.567G>T (p.Leu189=) |
single nucleotide variant |
not provided [RCV003547664] |
Chr12:49954671 [GRCh38]
Chr12:50348454 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.526-14T>G |
single nucleotide variant |
not provided [RCV003834910] |
Chr12:49954616 [GRCh38]
Chr12:50348399 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.526-15C>T |
single nucleotide variant |
not provided [RCV003811429] |
Chr12:49954615 [GRCh38]
Chr12:50348398 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.526-12C>G |
single nucleotide variant |
not provided [RCV003666255] |
Chr12:49954618 [GRCh38]
Chr12:50348401 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.99C>T (p.Asn33=) |
single nucleotide variant |
not provided [RCV003663767] |
Chr12:49950929 [GRCh38]
Chr12:50344712 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.630G>A (p.Val210=) |
single nucleotide variant |
not provided [RCV003579900] |
Chr12:49955422 [GRCh38]
Chr12:50349205 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.660C>T (p.Asn220=) |
single nucleotide variant |
not provided [RCV003852116] |
Chr12:49955452 [GRCh38]
Chr12:50349235 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.525+16G>A |
single nucleotide variant |
not provided [RCV003716960] |
Chr12:49954335 [GRCh38]
Chr12:50348118 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.747C>T (p.Arg249=) |
single nucleotide variant |
not provided [RCV003856029] |
Chr12:49955539 [GRCh38]
Chr12:50349322 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.360+20C>T |
single nucleotide variant |
not provided [RCV003726262] |
Chr12:49951210 [GRCh38]
Chr12:50344993 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.60A>C (p.Thr20=) |
single nucleotide variant |
not provided [RCV003560384] |
Chr12:49950890 [GRCh38]
Chr12:50344673 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.360+12C>T |
single nucleotide variant |
not provided [RCV003670149] |
Chr12:49951202 [GRCh38]
Chr12:50344985 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-13C>T |
single nucleotide variant |
not provided [RCV003666798] |
Chr12:49955386 [GRCh38]
Chr12:50349169 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.402G>A (p.Glu134=) |
single nucleotide variant |
not provided [RCV003560286] |
Chr12:49954196 [GRCh38]
Chr12:50347979 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.655T>C (p.Tyr219His) |
single nucleotide variant |
not provided [RCV003817323] |
Chr12:49955447 [GRCh38]
Chr12:50349230 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.692C>A (p.Ser231Ter) |
single nucleotide variant |
not provided [RCV003723651] |
Chr12:49955484 [GRCh38]
Chr12:50349267 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.384C>T (p.Gly128=) |
single nucleotide variant |
not provided [RCV003723745] |
Chr12:49954178 [GRCh38]
Chr12:50347961 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.429C>T (p.Leu143=) |
single nucleotide variant |
not provided [RCV003670969] |
Chr12:49954223 [GRCh38]
Chr12:50348006 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.361-20C>A |
single nucleotide variant |
not provided [RCV003665078] |
Chr12:49954135 [GRCh38]
Chr12:50347918 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.309G>T (p.Leu103=) |
single nucleotide variant |
not provided [RCV003697260] |
Chr12:49951139 [GRCh38]
Chr12:50344922 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.309G>C (p.Leu103=) |
single nucleotide variant |
not provided [RCV003700982] |
Chr12:49951139 [GRCh38]
Chr12:50344922 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-19C>T |
single nucleotide variant |
not provided [RCV003725264] |
Chr12:49955380 [GRCh38]
Chr12:50349163 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.491T>C (p.Ile164Thr) |
single nucleotide variant |
not provided [RCV003708217] |
Chr12:49954285 [GRCh38]
Chr12:50348068 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.606+19T>G |
single nucleotide variant |
not provided [RCV003542624] |
Chr12:49954729 [GRCh38]
Chr12:50348512 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.579C>G (p.Val193=) |
single nucleotide variant |
not provided [RCV003567836] |
Chr12:49954683 [GRCh38]
Chr12:50348466 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.782C>A (p.Ser261Ter) |
single nucleotide variant |
not provided [RCV003682790] |
Chr12:49955574 [GRCh38]
Chr12:50349357 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.481G>A (p.Ala161Thr) |
single nucleotide variant |
not provided [RCV003841353] |
Chr12:49954275 [GRCh38]
Chr12:50348058 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.222C>T (p.Ala74=) |
single nucleotide variant |
not provided [RCV003677751] |
Chr12:49951052 [GRCh38]
Chr12:50344835 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.361-19G>T |
single nucleotide variant |
not provided [RCV003680278] |
Chr12:49954136 [GRCh38]
Chr12:50347919 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.513C>G (p.Gly171=) |
single nucleotide variant |
not provided [RCV003856978] |
Chr12:49954307 [GRCh38]
Chr12:50348090 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-20C>T |
single nucleotide variant |
not provided [RCV003822324] |
Chr12:49955379 [GRCh38]
Chr12:50349162 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.234C>A (p.Gly78=) |
single nucleotide variant |
not provided [RCV003732078] |
Chr12:49951064 [GRCh38]
Chr12:50344847 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.607-6C>T |
single nucleotide variant |
not provided [RCV003731227] |
Chr12:49955393 [GRCh38]
Chr12:50349176 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.771G>A (p.Val257=) |
single nucleotide variant |
not provided [RCV003685004] |
Chr12:49955563 [GRCh38]
Chr12:50349346 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.361-19G>A |
single nucleotide variant |
not provided [RCV003737659] |
Chr12:49954136 [GRCh38]
Chr12:50347919 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.805A>G (p.Thr269Ala) |
single nucleotide variant |
not provided [RCV003866559] |
Chr12:49955597 [GRCh38]
Chr12:50349380 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.675G>A (p.Pro225=) |
single nucleotide variant |
not provided [RCV003729646] |
Chr12:49955467 [GRCh38]
Chr12:50349250 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.606+16C>T |
single nucleotide variant |
not provided [RCV003719544] |
Chr12:49954726 [GRCh38]
Chr12:50348509 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.360+12C>G |
single nucleotide variant |
not provided [RCV003867654] |
Chr12:49951202 [GRCh38]
Chr12:50344985 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.45A>G (p.Ala15=) |
single nucleotide variant |
not provided [RCV003710769] |
Chr12:49950875 [GRCh38]
Chr12:50344658 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.112C>T (p.Leu38=) |
single nucleotide variant |
not provided [RCV003733516] |
Chr12:49950942 [GRCh38]
Chr12:50344725 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.168A>G (p.Val56=) |
single nucleotide variant |
not provided [RCV003733517] |
Chr12:49950998 [GRCh38]
Chr12:50344781 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.186A>T (p.Ile62=) |
single nucleotide variant |
not provided [RCV003563245] |
Chr12:49951016 [GRCh38]
Chr12:50344799 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.33G>A (p.Arg11=) |
single nucleotide variant |
not provided [RCV003865669] |
Chr12:49950863 [GRCh38]
Chr12:50344646 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.111C>T (p.Ala37=) |
single nucleotide variant |
not provided [RCV003542628] |
Chr12:49950941 [GRCh38]
Chr12:50344724 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.699C>T (p.Arg233=) |
single nucleotide variant |
not provided [RCV003847853] |
Chr12:49955491 [GRCh38]
Chr12:50349274 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.624C>A (p.Pro208=) |
single nucleotide variant |
not provided [RCV003550475] |
Chr12:49955416 [GRCh38]
Chr12:50349199 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.526-13C>T |
single nucleotide variant |
not provided [RCV003866284] |
Chr12:49954617 [GRCh38]
Chr12:50348400 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.525+7C>T |
single nucleotide variant |
not provided [RCV003563917] |
Chr12:49954326 [GRCh38]
Chr12:50348109 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.119C>G (p.Ser40Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004420030] |
Chr12:49950949 [GRCh38]
Chr12:50344732 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.529C>T (p.His177Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004420033] |
Chr12:49954633 [GRCh38]
Chr12:50348416 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_000486.6(AQP2):c.292G>T (p.Val98Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004420032] |
Chr12:49951122 [GRCh38]
Chr12:50344905 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.131T>C (p.Ile44Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004420031] |
Chr12:49950961 [GRCh38]
Chr12:50344744 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.338G>A (p.Arg113His) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV004555444] |
Chr12:49951168 [GRCh38]
Chr12:50344951 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_000486.6(AQP2):c.569C>T (p.Ala190Val) |
single nucleotide variant |
Diabetes insipidus, nephrogenic, autosomal [RCV004585185] |
Chr12:49954673 [GRCh38]
Chr12:50348456 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NC_000012.11:g.(?_50344614)_(50349391_?)del |
deletion |
not provided [RCV004578477] |
Chr12:50344614..50349391 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_000486.6(AQP2):c.458G>A (p.Arg153His) |
single nucleotide variant |
Inborn genetic diseases [RCV004664764] |
Chr12:49954252 [GRCh38]
Chr12:50348035 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NC_000012.11:g.(?_50349162)_(50349391_?)del |
deletion |
not provided [RCV004578478] |
Chr12:50349162..50349391 [GRCh37]
Chr12:12q13.12 |
pathogenic |
