| 11585920 | CV289720 | single nucleotide variant | NM_006580.3(CLDN16):c.-6C>T | Primary hypomagnesemia [RCV000284333] | uncertain significance | 3 | 190388114 | 190388114 | Human | 1 | name |
| 11592499 | CV290488 | single nucleotide variant | NM_006580.3(CLDN16):c.-5G>A | Primary hypomagnesemia [RCV000339326] | uncertain significance | 3 | 190388115 | 190388115 | Human | 1 | name |
| 11596221 | CV293566 | single nucleotide variant | NM_006580.3(CLDN16):c.-3A>T | CLDN16-related disorder [RCV003950211]|Primary hypomagnesemia [RCV000379857]|not provided [RCV002280116] | likely benign|uncertain significance | 3 | 190388117 | 190388117 | Human | 2 | name , trait , alternate_id |
| 151830534 | CV1362699 | single nucleotide variant | NM_006580.4(CLDN16):c.-98G>A | not provided [RCV001993672] | uncertain significance | 3 | 190388232 | 190388232 | Human | | name |
| 151788864 | CV1394120 | single nucleotide variant | NM_006580.4(CLDN16):c.-68C>A | not provided [RCV002046904] | likely benign|uncertain significance | 3 | 190388262 | 190388262 | Human | | name |
| 151881066 | CV1395763 | single nucleotide variant | NM_006580.4(CLDN16):c.-65G>A | not provided [RCV002036888] | uncertain significance | 3 | 190388265 | 190388265 | Human | | name |
| 151799123 | CV1497611 | single nucleotide variant | NM_006580.4(CLDN16):c.-23A>G | Inborn genetic diseases [RCV004612018]|Primary hypomagnesemia [RCV005023482]|not provided [RCV001952755] | uncertain significance | 3 | 190388307 | 190388307 | Human | 2 | name |
| 156196953 | CV1900870 | single nucleotide variant | NM_006580.4(CLDN16):c.-41G>T | Inborn genetic diseases [RCV003294520]|not provided [RCV002574607] | uncertain significance | 3 | 190388289 | 190388289 | Human | 1 | name |
| 156274893 | CV2056154 | single nucleotide variant | NM_006580.4(CLDN16):c.-41G>C | not provided [RCV002806790] | uncertain significance | 3 | 190388289 | 190388289 | Human | | name |
| 155981731 | CV2244108 | single nucleotide variant | NM_006580.4(CLDN16):c.-62A>G | Inborn genetic diseases [RCV002777774] | uncertain significance | 3 | 190388268 | 190388268 | Human | 1 | name |
| 156007616 | CV2299747 | single nucleotide variant | NM_006580.4(CLDN16):c.-63C>T | Inborn genetic diseases [RCV002883808] | likely benign | 3 | 190388267 | 190388267 | Human | 1 | name |
| 329392233 | CV2470497 | single nucleotide variant | NM_006580.4(CLDN16):c.-25C>G | Inborn genetic diseases [RCV003217665] | uncertain significance | 3 | 190388305 | 190388305 | Human | 1 | name |
| 11580816 | CV266845 | deletion | NM_006580.4(CLDN16):c.-45del | Primary hypomagnesemia [RCV000345256]|not provided [RCV001520212]|not specified [RCV000371570] | benign|likely benign | 3 | 190388283 | 190388283 | Human | 1 | name |
| 11661147 | CV289715 | single nucleotide variant | NM_006580.3(CLDN16):c.-82A>G | Primary hypomagnesemia [RCV000373866] | uncertain significance | 3 | 190388038 | 190388038 | Human | 1 | name |
| 11659297 | CV290490 | single nucleotide variant | NM_006580.4(CLDN16):c.*74A>G | Primary hypomagnesemia [RCV000356725] | uncertain significance | 3 | 190410110 | 190410110 | Human | 1 | name |
| 11597109 | CV294147 | single nucleotide variant | NM_006580.4(CLDN16):c.-45G>C | Primary hypomagnesemia [RCV000390314]|not provided [RCV001520213]|not specified [RCV000616416] | benign | 3 | 190388285 | 190388285 | Human | 1 | name |
| 405079626 | CV3137118 | single nucleotide variant | NM_006580.4(CLDN16):c.-18G>T | not provided [RCV003834017] | uncertain significance | 3 | 190388312 | 190388312 | Human | | name |
| 405685645 | CV3306593 | single nucleotide variant | NM_006580.4(CLDN16):c.-65G>T | Inborn genetic diseases [RCV004444311] | uncertain significance | 3 | 190388265 | 190388265 | Human | 1 | name |
| 405685651 | CV3306594 | single nucleotide variant | NM_006580.4(CLDN16):c.-47G>A | Inborn genetic diseases [RCV004444312] | uncertain significance | 3 | 190388283 | 190388283 | Human | 1 | name |
| 597631907 | CV3660261 | single nucleotide variant | NM_006580.4(CLDN16):c.-29G>A | Inborn genetic diseases [RCV004967872] | uncertain significance | 3 | 190388301 | 190388301 | Human | 1 | name |
| 15194057 | CV763783 | single nucleotide variant | NM_006580.4(CLDN16):c.-97C>T | not provided [RCV000933533] | likely benign | 3 | 190388233 | 190388233 | Human | | name |
| 28878401 | CV888528 | single nucleotide variant | NM_006580.3(CLDN16):c.-41C>T | Primary hypomagnesemia [RCV001148669]|not provided [RCV004711549] | likely benign | 3 | 190388079 | 190388079 | Human | 1 | name |
| 156336021 | CV1966889 | single nucleotide variant | NM_006580.4(CLDN16):c.-104C>T | not provided [RCV002601034] | uncertain significance | 3 | 190388226 | 190388226 | Human | | name |
| 155997030 | CV2122644 | single nucleotide variant | NM_006580.4(CLDN16):c.-149G>T | not provided [RCV002975001] | likely benign|uncertain significance | 3 | 190388181 | 190388181 | Human | | name |
| 156187249 | CV2195754 | single nucleotide variant | NM_006580.4(CLDN16):c.-134G>A | Inborn genetic diseases [RCV002665667] | uncertain significance | 3 | 190388196 | 190388196 | Human | 1 | name |
| 11655044 | CV289724 | single nucleotide variant | NM_006580.4(CLDN16):c.*761A>G | Primary hypomagnesemia [RCV000322837] | uncertain significance | 3 | 190410797 | 190410797 | Human | 1 | name |
| 11590430 | CV290487 | single nucleotide variant | NM_006580.3(CLDN16):c.-136T>C | Primary hypomagnesemia [RCV000319167] | uncertain significance | 3 | 190387984 | 190387984 | Human | 1 | name |
| 11590720 | CV290494 | single nucleotide variant | NM_006580.4(CLDN16):c.*243C>T | Primary hypomagnesemia [RCV000321736]|not provided [RCV004716058] | benign|likely benign | 3 | 190410279 | 190410279 | Human | 1 | name |
| 11661399 | CV290500 | single nucleotide variant | NM_006580.4(CLDN16):c.*249G>A | Primary hypomagnesemia [RCV000376270] | uncertain significance | 3 | 190410285 | 190410285 | Human | 1 | name |
| 11586340 | CV290501 | single nucleotide variant | NM_006580.4(CLDN16):c.*794T>C | Primary hypomagnesemia [RCV000287462]|not provided [RCV004716059] | benign | 3 | 190410830 | 190410830 | Human | 1 | name |
| 11661995 | CV293577 | deletion | NM_006580.4(CLDN16):c.*768del | Primary hypomagnesemia [RCV000382082] | uncertain significance | 3 | 190410804 | 190410804 | Human | 1 | name |
| 11593253 | CV293578 | single nucleotide variant | NM_006580.4(CLDN16):c.*842C>T | Primary hypomagnesemia [RCV000347137]|not provided [RCV004717480] | benign|likely benign | 3 | 190410878 | 190410878 | Human | 1 | name |
| 11596519 | CV293606 | single nucleotide variant | NM_006580.4(CLDN16):c.*907A>G | Primary hypomagnesemia [RCV000383081]|not provided [RCV004716060] | benign|likely benign | 3 | 190410943 | 190410943 | Human | 1 | name |
| 11582716 | CV294163 | single nucleotide variant | NM_006580.4(CLDN16):c.*204C>T | Primary hypomagnesemia [RCV000261849]|not provided [RCV002225604] | benign|likely benign | 3 | 190410240 | 190410240 | Human | 1 | name |
| 11645822 | CV294166 | single nucleotide variant | NM_006580.4(CLDN16):c.*724A>C | Primary hypomagnesemia [RCV000267643] | uncertain significance | 3 | 190410760 | 190410760 | Human | 1 | name |
| 11587232 | CV294167 | single nucleotide variant | NM_006580.4(CLDN16):c.*965G>A | Primary hypomagnesemia [RCV000293483] | uncertain significance | 3 | 190411001 | 190411001 | Human | 1 | name |
| 405685662 | CV3306596 | single nucleotide variant | NM_006580.4(CLDN16):c.-140A>G | Inborn genetic diseases [RCV004444314] | likely benign | 3 | 190388190 | 190388190 | Human | 1 | name |
| 28871504 | CV888526 | single nucleotide variant | NM_006580.3(CLDN16):c.-206G>T | Primary hypomagnesemia [RCV001145882] | uncertain significance | 3 | 190387914 | 190387914 | Human | 1 | name |
| 28878396 | CV888527 | single nucleotide variant | NM_006580.3(CLDN16):c.-155C>T | Primary hypomagnesemia [RCV001148668] | uncertain significance | 3 | 190387965 | 190387965 | Human | 1 | name |
| 28878408 | CV888529 | single nucleotide variant | NM_006580.4(CLDN16):c.-132G>A | Primary hypomagnesemia [RCV001148670]|not provided [RCV001882457] | uncertain significance | 3 | 190388198 | 190388198 | Human | 1 | name |
| 28878413 | CV888530 | single nucleotide variant | NM_006580.4(CLDN16):c.-116G>T | Inborn genetic diseases [RCV003373000]|Primary hypomagnesemia [RCV001148671]|not provided [RCV001858974] | uncertain significance | 3 | 190388214 | 190388214 | Human | 2 | name |
| 28871742 | CV888538 | single nucleotide variant | NM_006580.4(CLDN16):c.*181C>T | Primary hypomagnesemia [RCV001145993]|not provided [RCV004711543] | likely benign | 3 | 190410217 | 190410217 | Human | 1 | name |
| 28871746 | CV888539 | single nucleotide variant | NM_006580.4(CLDN16):c.*299A>G | Primary hypomagnesemia [RCV001145994] | uncertain significance | 3 | 190410335 | 190410335 | Human | 1 | name |
| 28871750 | CV888540 | single nucleotide variant | NM_006580.4(CLDN16):c.*493T>C | Primary hypomagnesemia [RCV001145995] | uncertain significance | 3 | 190410529 | 190410529 | Human | 1 | name |
| 28878743 | CV888541 | single nucleotide variant | NM_006580.4(CLDN16):c.*495A>T | Primary hypomagnesemia [RCV001148776] | uncertain significance | 3 | 190410531 | 190410531 | Human | 1 | name |
| 28878748 | CV888542 | single nucleotide variant | NM_006580.4(CLDN16):c.*541A>G | Primary hypomagnesemia [RCV001148777] | uncertain significance | 3 | 190410577 | 190410577 | Human | 1 | name |
| 28878752 | CV888543 | single nucleotide variant | NM_006580.4(CLDN16):c.*586G>T | Primary hypomagnesemia [RCV001148778] | uncertain significance | 3 | 190410622 | 190410622 | Human | 1 | name |
| 28878755 | CV888544 | single nucleotide variant | NM_006580.4(CLDN16):c.*769A>C | Primary hypomagnesemia [RCV001148779] | uncertain significance | 3 | 190410805 | 190410805 | Human | 1 | name |
| 38598687 | CV888545 | single nucleotide variant | NM_006580.4(CLDN16):c.*868A>C | Primary hypomagnesemia [RCV001253970] | uncertain significance | 3 | 190410904 | 190410904 | Human | 1 | name |
| 151811713 | CV1350645 | single nucleotide variant | NM_006580.4(CLDN16):c.217+1G>A | Primary hypomagnesemia [RCV005025679]|not provided [RCV002048920] | likely pathogenic | 3 | 190402440 | 190402440 | Human | 1 | name |
| 155961814 | CV1922536 | single nucleotide variant | NM_006580.4(CLDN16):c.382+8T>C | not provided [RCV002616768] | likely benign | 3 | 190404934 | 190404934 | Human | | name |
| 11589861 | CV289725 | single nucleotide variant | NM_006580.4(CLDN16):c.*1178C>T | Primary hypomagnesemia [RCV000314143] | likely benign|uncertain significance | 3 | 190411214 | 190411214 | Human | 1 | name |
| 11592180 | CV290508 | single nucleotide variant | NM_006580.4(CLDN16):c.*1313G>A | Primary hypomagnesemia [RCV000336361] | uncertain significance | 3 | 190411349 | 190411349 | Human | 1 | name |
| 11663983 | CV290510 | single nucleotide variant | NM_006580.4(CLDN16):c.*1333A>G | Primary hypomagnesemia [RCV000401430] | uncertain significance | 3 | 190411369 | 190411369 | Human | 1 | name |
| 11593454 | CV293610 | single nucleotide variant | NM_006580.4(CLDN16):c.*1117G>A | Primary hypomagnesemia [RCV000349245]|not provided [RCV004716061] | benign|likely benign | 3 | 190411153 | 190411153 | Human | 1 | name |
| 11659247 | CV293621 | single nucleotide variant | NM_006580.4(CLDN16):c.*1377T>A | Primary hypomagnesemia [RCV000356331] | uncertain significance | 3 | 190411413 | 190411413 | Human | 1 | name |
| 11659805 | CV293622 | single nucleotide variant | NM_006580.4(CLDN16):c.*1559C>A | Primary hypomagnesemia [RCV000361582] | uncertain significance | 3 | 190411595 | 190411595 | Human | 1 | name |
| 11591256 | CV293624 | single nucleotide variant | NM_006580.4(CLDN16):c.*1763T>A | Primary hypomagnesemia [RCV000327086]|not provided [RCV004717481] | benign | 3 | 190411799 | 190411799 | Human | 1 | name |
| 11596369 | CV293644 | single nucleotide variant | NM_006580.4(CLDN16):c.*1779A>C | Primary hypomagnesemia [RCV000381657]|not provided [RCV004717482] | benign|likely benign | 3 | 190411815 | 190411815 | Human | 1 | name |
| 11663943 | CV294173 | single nucleotide variant | NM_006580.4(CLDN16):c.*1170G>A | Primary hypomagnesemia [RCV000401121] | uncertain significance | 3 | 190411206 | 190411206 | Human | 1 | name |
| 11588215 | CV294176 | single nucleotide variant | NM_006580.4(CLDN16):c.*1348A>G | Primary hypomagnesemia [RCV000301395] | uncertain significance | 3 | 190411384 | 190411384 | Human | 1 | name |
| 11583360 | CV294177 | single nucleotide variant | NM_006580.4(CLDN16):c.*1453G>C | Primary hypomagnesemia [RCV000266273] | benign|uncertain significance | 3 | 190411489 | 190411489 | Human | 1 | name |
| 11588315 | CV294178 | single nucleotide variant | NM_006580.4(CLDN16):c.*1491A>G | Primary hypomagnesemia [RCV000302143] | uncertain significance | 3 | 190411527 | 190411527 | Human | 1 | name |
| 11645768 | CV294179 | single nucleotide variant | NM_006580.4(CLDN16):c.*1733A>G | Primary hypomagnesemia [RCV000267352] | uncertain significance | 3 | 190411769 | 190411769 | Human | 1 | name |
| 11584346 | CV294182 | single nucleotide variant | NM_006580.4(CLDN16):c.*2098T>G | Primary hypomagnesemia [RCV000273196]|not provided [RCV004716062] | benign|likely benign | 3 | 190412134 | 190412134 | Human | 1 | name |
| 405279751 | CV3200100 | single nucleotide variant | NM_006580.4(CLDN16):c.382+5C>T | CLDN16-related disorder [RCV003977046] | likely benign | 3 | 190404931 | 190404931 | Human | | name , trait , alternate_id |
| 405656534 | CV3227884 | single nucleotide variant | NM_006580.4(CLDN16):c.574+2T>C | Primary hypomagnesemia [RCV003994626] | likely pathogenic | 3 | 190408507 | 190408507 | Human | 1 | name |
| 597637945 | CV3717424 | single nucleotide variant | NM_006580.4(CLDN16):c.114+5G>T | Primary hypomagnesemia [RCV005024567] | uncertain significance | 3 | 190388448 | 190388448 | Human | 1 | name |
| 597638560 | CV3717429 | single nucleotide variant | NM_006580.4(CLDN16):c.217+4C>A | Primary hypomagnesemia [RCV005024570] | uncertain significance | 3 | 190402443 | 190402443 | Human | 1 | name |
| 597638565 | CV3717430 | single nucleotide variant | NM_006580.4(CLDN16):c.217+4C>G | Primary hypomagnesemia [RCV005024571] | uncertain significance | 3 | 190402443 | 190402443 | Human | 1 | name |
| 597637988 | CV3717434 | single nucleotide variant | NM_006580.4(CLDN16):c.382+5C>G | Primary hypomagnesemia [RCV005024574] | uncertain significance | 3 | 190404931 | 190404931 | Human | 1 | name |
| 15015294 | CV679900 | single nucleotide variant | NM_006580.4(CLDN16):c.217+5G>A | Primary hypomagnesemia [RCV000853501]|not provided [RCV005092533] | pathogenic|likely pathogenic | 3 | 190402444 | 190402444 | Human | 1 | name |
| 15129538 | CV759272 | single nucleotide variant | NM_006580.4(CLDN16):c.115-7C>T | not provided [RCV000919849] | likely benign | 3 | 190402330 | 190402330 | Human | | name |
| 38598632 | CV888546 | single nucleotide variant | NM_006580.4(CLDN16):c.*1022G>A | Primary hypomagnesemia [RCV001253910] | uncertain significance | 3 | 190411058 | 190411058 | Human | 1 | name |
| 38598633 | CV888547 | single nucleotide variant | NM_006580.4(CLDN16):c.*1145A>G | Primary hypomagnesemia [RCV001253911] | uncertain significance | 3 | 190411181 | 190411181 | Human | 1 | name |
| 38598634 | CV888548 | single nucleotide variant | NM_006580.4(CLDN16):c.*1156G>A | Primary hypomagnesemia [RCV001253912] | uncertain significance | 3 | 190411192 | 190411192 | Human | 1 | name |
| 28903833 | CV888549 | single nucleotide variant | NM_006580.4(CLDN16):c.*1234A>C | Primary hypomagnesemia [RCV001144206] | benign | 3 | 190411270 | 190411270 | Human | 1 | name |
| 28903834 | CV888550 | single nucleotide variant | NM_006580.4(CLDN16):c.*1427A>G | Primary hypomagnesemia [RCV001144207] | uncertain significance | 3 | 190411463 | 190411463 | Human | 1 | name |
| 28872032 | CV888551 | single nucleotide variant | NM_006580.4(CLDN16):c.*1552T>G | Primary hypomagnesemia [RCV001146102] | uncertain significance | 3 | 190411588 | 190411588 | Human | 1 | name |
| 28872035 | CV888552 | single nucleotide variant | NM_006580.4(CLDN16):c.*1793G>C | Primary hypomagnesemia [RCV001146103] | uncertain significance | 3 | 190411829 | 190411829 | Human | 1 | name |
| 28879111 | CV888553 | single nucleotide variant | NM_006580.4(CLDN16):c.*1812A>G | Primary hypomagnesemia [RCV001148896] | likely benign | 3 | 190411848 | 190411848 | Human | 1 | name |
| 28879113 | CV888554 | single nucleotide variant | NM_006580.4(CLDN16):c.*1817T>C | Primary hypomagnesemia [RCV001148897] | uncertain significance | 3 | 190411853 | 190411853 | Human | 1 | name |
| 28879120 | CV888555 | single nucleotide variant | NM_006580.4(CLDN16):c.*1833G>A | Primary hypomagnesemia [RCV001148898] | benign | 3 | 190411869 | 190411869 | Human | 1 | name |
| 28879125 | CV888556 | single nucleotide variant | NM_006580.4(CLDN16):c.*1872C>A | Primary hypomagnesemia [RCV001148899] | uncertain significance | 3 | 190411908 | 190411908 | Human | 1 | name |
| 28879130 | CV888557 | single nucleotide variant | NM_006580.4(CLDN16):c.*1883T>G | Primary hypomagnesemia [RCV001148900] | uncertain significance | 3 | 190411919 | 190411919 | Human | 1 | name |
| 28879135 | CV888558 | single nucleotide variant | NM_006580.4(CLDN16):c.*1952C>G | Primary hypomagnesemia [RCV001148901] | likely benign | 3 | 190411988 | 190411988 | Human | 1 | name |
| 28879139 | CV888559 | single nucleotide variant | NM_006580.4(CLDN16):c.*2014T>C | Primary hypomagnesemia [RCV001148902] | uncertain significance | 3 | 190412050 | 190412050 | Human | 1 | name |
| 28903577 | CV891630 | single nucleotide variant | NM_006580.4(CLDN16):c.575-7C>T | Primary hypomagnesemia [RCV001144098]|not provided [RCV005093635] | likely benign|uncertain significance | 3 | 190409896 | 190409896 | Human | 1 | name |
| 126741018 | CV1016219 | single nucleotide variant | NM_006580.4(CLDN16):c.218-10G>A | Primary hypomagnesemia [RCV001329585] | uncertain significance | 3 | 190404752 | 190404752 | Human | 1 | name |
| 150427648 | CV1186571 | single nucleotide variant | NM_006580.4(CLDN16):c.218-78T>G | not provided [RCV001561207] | likely benign | 3 | 190404684 | 190404684 | Human | | name |
| 150420689 | CV1197056 | single nucleotide variant | NM_006580.4(CLDN16):c.217+24G>T | not provided [RCV001577721] | likely benign | 3 | 190402463 | 190402463 | Human | | name |
| 151662879 | CV1333516 | single nucleotide variant | NM_006580.4(CLDN16):c.115-30G>A | not provided [RCV001837708] | likely benign | 3 | 190402307 | 190402307 | Human | | name |
| 152126061 | CV1641889 | single nucleotide variant | NM_006580.4(CLDN16):c.218-14C>T | not provided [RCV002176194] | likely benign | 3 | 190404748 | 190404748 | Human | | name |
| 156000191 | CV1987122 | single nucleotide variant | NM_006580.4(CLDN16):c.574+13T>C | not provided [RCV002618408] | likely benign | 3 | 190408518 | 190408518 | Human | | name |
| 156405730 | CV2004440 | single nucleotide variant | NM_006580.4(CLDN16):c.575-16T>A | not provided [RCV002658382] | likely benign | 3 | 190409887 | 190409887 | Human | | name |
| 156284314 | CV2012664 | single nucleotide variant | NM_006580.4(CLDN16):c.383-13C>G | not provided [RCV002715403] | likely benign | 3 | 190408301 | 190408301 | Human | | name |
| 11544926 | CV251068 | single nucleotide variant | NM_006580.4(CLDN16):c.114+10T>C | Primary hypomagnesemia [RCV000399824]|not provided [RCV001509688]|not specified [RCV000244453] | benign | 3 | 190388453 | 190388453 | Human | 1 | name |
| 11589991 | CV294149 | single nucleotide variant | NM_006580.4(CLDN16):c.114+13C>G | Primary hypomagnesemia [RCV000315060]|not provided [RCV002057872] | likely benign|uncertain significance | 3 | 190388456 | 190388456 | Human | 1 | name |
| 597927043 | CV3783399 | single nucleotide variant | NM_006580.4(CLDN16):c.218-20C>A | not provided [RCV005116086] | likely benign | 3 | 190404742 | 190404742 | Human | | name |
| 150495705 | CV1205073 | single nucleotide variant | NM_006580.4(CLDN16):c.575-179A>T | not provided [RCV001593565] | likely benign | 3 | 190409724 | 190409724 | Human | | name |
| 150451241 | CV1205368 | single nucleotide variant | NM_006580.4(CLDN16):c.218-303T>G | not provided [RCV001585268] | likely benign | 3 | 190404459 | 190404459 | Human | | name |
| 150434511 | CV1230806 | single nucleotide variant | NM_006580.4(CLDN16):c.574+117A>G | not provided [RCV001643753] | benign | 3 | 190408622 | 190408622 | Human | | name |
| 150478551 | CV1257166 | single nucleotide variant | NM_006580.4(CLDN16):c.114+100T>A | not provided [RCV001672396] | benign | 3 | 190388543 | 190388543 | Human | | name |
| 150449719 | CV1260858 | single nucleotide variant | NM_006580.4(CLDN16):c.218-219A>G | not provided [RCV001680527] | benign | 3 | 190404543 | 190404543 | Human | | name |
| 150496535 | CV1271553 | single nucleotide variant | NM_006580.4(CLDN16):c.114+120A>G | not provided [RCV001688853] | benign | 3 | 190388563 | 190388563 | Human | | name |
| 150497952 | CV1281670 | single nucleotide variant | NM_006580.4(CLDN16):c.383-186A>G | not provided [RCV001717934] | benign | 3 | 190408128 | 190408128 | Human | | name |
| 8578487 | CV112870 | single nucleotide variant | NM_006580.3(CLDN16):c.324+3013G>A | Lung cancer [RCV000093393] | uncertain significance | 3 | 190391456 | 190391456 | Human | | name |
| 13831985 | CV582482 | deletion | NM_006580.4(CLDN16):c.-143_-141del | not provided [RCV000722670] | uncertain significance | 3 | 190388186 | 190388188 | Human | | name |
| 150436860 | CV1220620 | single nucleotide variant | NM_001378492.1(CLDN16):c.-93-707G>A | not provided [RCV001609604] | benign | 3 | 190387530 | 190387530 | Human | | name |
| 150462703 | CV1273048 | single nucleotide variant | NM_001378492.1(CLDN16):c.-93-626A>G | not provided [RCV001693805] | benign | 3 | 190387611 | 190387611 | Human | | name |
| 150451267 | CV1276572 | single nucleotide variant | NM_001378492.1(CLDN16):c.-93-575C>T | not provided [RCV001708361] | benign | 3 | 190387662 | 190387662 | Human | | name |
| 156020804 | CV2058932 | microsatellite | NM_006580.4(CLDN16):c.114+7_114+9del | not provided [RCV002820604] | likely benign | 3 | 190388446 | 190388448 | Human | | name |
| 405255273 | CV3171953 | single nucleotide variant | NM_006580.4(CLDN16):c.15T>C (p.Leu5=) | not provided [RCV003872076] | likely benign | 3 | 190388344 | 190388344 | Human | | name |
| 405267370 | CV3219315 | single nucleotide variant | NM_006580.4(CLDN16):c.24C>T (p.Ile8=) | CLDN16-related disorder [RCV003969573] | likely benign | 3 | 190388353 | 190388353 | Human | | name , trait , alternate_id |
| 126741010 | CV1016217 | single nucleotide variant | NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) | Primary hypomagnesemia [RCV001329583] | pathogenic|conflicting interpretations of pathogenicity | 3 | 190388331 | 190388331 | Human | 1 | name |
| 151852412 | CV1357163 | single nucleotide variant | NM_006580.4(CLDN16):c.4A>T (p.Arg2Trp) | not provided [RCV001904272] | uncertain significance | 3 | 190388333 | 190388333 | Human | | name |
| 156362986 | CV1934761 | single nucleotide variant | NM_006580.4(CLDN16):c.1A>G (p.Met1Val) | not provided [RCV002651767] | uncertain significance | 3 | 190388330 | 190388330 | Human | | name |
| 8559010 | CV20968 | single nucleotide variant | NM_006580.4(CLDN16):c.2T>G (p.Met1Arg) | Primary hypomagnesemia [RCV000006292] | pathogenic | 3 | 190388331 | 190388331 | Human | 1 | name |
| 597716391 | CV3717418 | single nucleotide variant | NM_006580.4(CLDN16):c.3G>A (p.Met1Ile) | Primary hypomagnesemia [RCV005035294] | likely pathogenic | 3 | 190388332 | 190388332 | Human | 1 | name |
| 28883399 | CV888532 | single nucleotide variant | NM_006580.4(CLDN16):c.99T>C (p.Ala33=) | Primary hypomagnesemia [RCV001150245] | uncertain significance | 3 | 190388428 | 190388428 | Human | 1 | name |
| 156405621 | CV1884512 | single nucleotide variant | NM_006580.4(CLDN16):c.150C>T (p.Cys50=) | not provided [RCV003070080] | likely benign | 3 | 190402372 | 190402372 | Human | | name |
| 156048157 | CV1978141 | single nucleotide variant | NM_006580.4(CLDN16):c.207G>A (p.Ala69=) | Primary hypomagnesemia [RCV005025886]|not provided [RCV002590570] | likely benign|uncertain significance | 3 | 190402429 | 190402429 | Human | 1 | name |
| 156396069 | CV1985155 | single nucleotide variant | NM_006580.4(CLDN16):c.210G>A (p.Glu70=) | not provided [RCV002635492] | likely benign | 3 | 190402432 | 190402432 | Human | | name |
| 155979684 | CV2140300 | single nucleotide variant | NM_006580.4(CLDN16):c.19T>C (p.Tyr7His) | Inborn genetic diseases [RCV002996034]|Primary hypomagnesemia [RCV005028109]|not provided [RCV003011406] | uncertain significance | 3 | 190388348 | 190388348 | Human | 2 | name |
| 11589396 | CV294148 | single nucleotide variant | NM_006580.4(CLDN16):c.17A>C (p.Gln6Pro) | CLDN16-related disorder [RCV004758687]|Primary hypomagnesemia [RCV000310282] | uncertain significance | 3 | 190388346 | 190388346 | Human | 2 | name , trait , alternate_id |
| 11595356 | CV294155 | single nucleotide variant | NM_006580.4(CLDN16):c.117G>A (p.Val39=) | Primary hypomagnesemia [RCV000369762]|not provided [RCV000921476] | likely benign|uncertain significance | 3 | 190402339 | 190402339 | Human | 1 | name |
| 405211572 | CV3117833 | single nucleotide variant | NM_006580.4(CLDN16):c.240G>A (p.Ala80=) | not provided [RCV003823432] | likely benign | 3 | 190404784 | 190404784 | Human | | name |
| 405205103 | CV3144192 | single nucleotide variant | NM_006580.4(CLDN16):c.189G>A (p.Glu63=) | not provided [RCV003844982] | likely benign | 3 | 190402411 | 190402411 | Human | | name |
| 405685656 | CV3306595 | single nucleotide variant | NM_006580.4(CLDN16):c.25G>C (p.Ala9Pro) | Inborn genetic diseases [RCV004444313] | uncertain significance | 3 | 190388354 | 190388354 | Human | 1 | name |
| 597940937 | CV3819158 | single nucleotide variant | NM_006580.4(CLDN16):c.132A>G (p.Arg44=) | not provided [RCV005158969] | likely benign | 3 | 190402354 | 190402354 | Human | | name |
| 597840496 | CV3825329 | single nucleotide variant | NM_006580.4(CLDN16):c.288G>C (p.Leu96=) | not provided [RCV005172012] | likely benign | 3 | 190404832 | 190404832 | Human | | name |
| 15178942 | CV720350 | single nucleotide variant | NM_006580.4(CLDN16):c.165T>C (p.Phe55=) | Primary hypomagnesemia [RCV002495360]|not provided [RCV000885177] | benign|likely benign | 3 | 190402387 | 190402387 | Human | 1 | name |
| 15099221 | CV748151 | single nucleotide variant | NM_006580.4(CLDN16):c.171G>A (p.Gly57=) | not provided [RCV000914417] | likely benign | 3 | 190402393 | 190402393 | Human | | name |
| 28883394 | CV888531 | single nucleotide variant | NM_006580.4(CLDN16):c.22A>G (p.Ile8Val) | Inborn genetic diseases [RCV004032782]|Primary hypomagnesemia [RCV001150244] | likely benign|uncertain significance | 3 | 190388351 | 190388351 | Human | 2 | name |
| 28903565 | CV888533 | single nucleotide variant | NM_006580.4(CLDN16):c.192C>T (p.Tyr64=) | Primary hypomagnesemia [RCV001144095]|not provided [RCV003727906] | likely benign|uncertain significance | 3 | 190402414 | 190402414 | Human | 1 | name |
| 126747282 | CV1004642 | single nucleotide variant | NM_006580.4(CLDN16):c.62T>C (p.Ile21Thr) | Primary hypomagnesemia [RCV005023050]|not provided [RCV001326131] | uncertain significance | 3 | 190388391 | 190388391 | Human | 1 | name |
| 127318070 | CV1113854 | single nucleotide variant | NM_006580.4(CLDN16):c.504C>G (p.Leu168=) | not provided [RCV001466069] | likely benign | 3 | 190408435 | 190408435 | Human | | name |
| 127325627 | CV1134730 | single nucleotide variant | NM_006580.4(CLDN16):c.639C>T (p.Ser213=) | not provided [RCV001506064] | likely benign | 3 | 190409967 | 190409967 | Human | | name |
| 152055686 | CV1539025 | single nucleotide variant | NM_006580.4(CLDN16):c.627C>T (p.Ala209=) | not provided [RCV002208051] | likely benign | 3 | 190409955 | 190409955 | Human | | name |
| 156407303 | CV1918069 | single nucleotide variant | NM_006580.4(CLDN16):c.687T>C (p.Tyr229=) | not provided [RCV002606855] | likely benign | 3 | 190410015 | 190410015 | Human | | name |
| 155966033 | CV2034265 | single nucleotide variant | NM_006580.4(CLDN16):c.516G>T (p.Gly172=) | not provided [RCV002731399] | likely benign | 3 | 190408447 | 190408447 | Human | | name |
| 156219300 | CV2128154 | single nucleotide variant | NM_006580.4(CLDN16):c.519T>A (p.Ser173=) | not provided [RCV002958076] | likely benign | 3 | 190408450 | 190408450 | Human | | name |
| 156139034 | CV2166037 | single nucleotide variant | NM_006580.4(CLDN16):c.73T>G (p.Trp25Gly) | not provided [RCV003022455] | uncertain significance | 3 | 190388402 | 190388402 | Human | | name |
| 329362629 | CV2464061 | single nucleotide variant | NM_006580.4(CLDN16):c.37G>A (p.Ala13Thr) | Inborn genetic diseases [RCV003206121] | uncertain significance | 3 | 190388366 | 190388366 | Human | 1 | name |
| 401854982 | CV2752703 | single nucleotide variant | NM_006580.4(CLDN16):c.47C>T (p.Ser16Phe) | Primary hypomagnesemia [RCV003337757] | uncertain significance | 3 | 190388376 | 190388376 | Human | 1 | name |
| 405228666 | CV2894635 | single nucleotide variant | NM_006580.4(CLDN16):c.53G>A (p.Gly18Glu) | not provided [RCV003555120] | uncertain significance | 3 | 190388382 | 190388382 | Human | | name |
| 11593189 | CV289721 | single nucleotide variant | NM_006580.4(CLDN16):c.45C>G (p.Phe15Leu) | Primary hypomagnesemia [RCV000346413]|not provided [RCV000974602] | benign|likely benign | 3 | 190388374 | 190388374 | Human | 1 | name |
| 405222943 | CV2918925 | single nucleotide variant | NM_006580.4(CLDN16):c.699A>C (p.Thr233=) | not provided [RCV003568711] | likely benign | 3 | 190410027 | 190410027 | Human | | name |
| 405212414 | CV3063106 | single nucleotide variant | NM_006580.4(CLDN16):c.324T>C (p.Asp108=) | not provided [RCV003732128] | likely benign | 3 | 190404868 | 190404868 | Human | | name |
| 405087869 | CV3167489 | single nucleotide variant | NM_006580.4(CLDN16):c.675G>A (p.Thr225=) | not provided [RCV003852072] | likely benign | 3 | 190410003 | 190410003 | Human | | name |
| 405717924 | CV3227669 | single nucleotide variant | NM_006580.4(CLDN16):c.77C>T (p.Thr26Ile) | Primary hypomagnesemia [RCV003992010] | uncertain significance | 3 | 190388406 | 190388406 | Human | 1 | name |
| 407462359 | CV3419352 | single nucleotide variant | NM_006580.4(CLDN16):c.88A>G (p.Met30Val) | Inborn genetic diseases [RCV004612887] | uncertain significance | 3 | 190388417 | 190388417 | Human | 1 | name |
| 408384575 | CV3518401 | deletion | NM_006580.4(CLDN16):c.165del (p.Phe55fs) | Primary hypomagnesemia [RCV004759725] | pathogenic | 3 | 190402384 | 190402384 | Human | 1 | name |
| 597716401 | CV3717421 | single nucleotide variant | NM_006580.4(CLDN16):c.60G>T (p.Leu20Phe) | Primary hypomagnesemia [RCV005035295] | uncertain significance | 3 | 190388389 | 190388389 | Human | 1 | name |
| 597637939 | CV3717422 | single nucleotide variant | NM_006580.4(CLDN16):c.88A>T (p.Met30Leu) | Primary hypomagnesemia [RCV005024566] | uncertain significance | 3 | 190388417 | 190388417 | Human | 1 | name |
| 597949882 | CV3746041 | single nucleotide variant | NM_006580.4(CLDN16):c.699A>T (p.Thr233=) | not provided [RCV005079225] | likely benign | 3 | 190410027 | 190410027 | Human | | name |
| 597876461 | CV3813228 | single nucleotide variant | NM_006580.4(CLDN16):c.37G>C (p.Ala13Pro) | not provided [RCV005149164] | uncertain significance | 3 | 190388366 | 190388366 | Human | | name |
| 12900938 | CV406166 | single nucleotide variant | NM_006580.4(CLDN16):c.87G>C (p.Trp29Cys) | Primary hypomagnesemia [RCV005355958]|not provided [RCV000483531] | uncertain significance | 3 | 190388416 | 190388416 | Human | 1 | name |
| 15191474 | CV733962 | single nucleotide variant | NM_006580.4(CLDN16):c.532T>C (p.Leu178=) | Primary hypomagnesemia [RCV002505331]|not provided [RCV000910258] | benign|likely benign | 3 | 190408463 | 190408463 | Human | 1 | name |
| 15190707 | CV733963 | single nucleotide variant | NM_006580.4(CLDN16):c.672G>A (p.Glu224=) | not provided [RCV000910030] | likely benign | 3 | 190410000 | 190410000 | Human | | name |
| 26919782 | CV827817 | single nucleotide variant | NM_006580.4(CLDN16):c.477A>G (p.Gln159=) | Inborn genetic diseases [RCV004973283]|Primary hypomagnesemia [RCV005036329]|not provided [RCV001046384] | likely benign|uncertain significance | 3 | 190408408 | 190408408 | Human | 2 | name |
| 28903572 | CV888535 | single nucleotide variant | NM_006580.4(CLDN16):c.564T>C (p.Tyr188=) | Primary hypomagnesemia [RCV001144097] | uncertain significance | 3 | 190408495 | 190408495 | Human | 1 | name |
| 38459296 | CV918532 | single nucleotide variant | NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr) | Renal hypomagnesemia 5 with ocular involvement [RCV001195722] | likely pathogenic | 3 | 190388396 | 190388396 | Human | 1 | name |
| 126741012 | CV1016218 | single nucleotide variant | NM_006580.4(CLDN16):c.130C>T (p.Arg44Ter) | Primary hypomagnesemia [RCV005360371] | pathogenic|likely pathogenic | 3 | 190402352 | 190402352 | Human | 1 | name |
| 150404902 | CV1189411 | single nucleotide variant | NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln) | Primary hypomagnesemia [RCV001564039] | pathogenic | 3 | 190404780 | 190404780 | Human | 1 | name |
| 150416334 | CV1192638 | single nucleotide variant | NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) | Primary hypomagnesemia [RCV001568363] | pathogenic|likely pathogenic | 3 | 190402359 | 190402359 | Human | 1 | name |
| 150416335 | CV1192639 | single nucleotide variant | NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) | Primary hypomagnesemia [RCV001568368] | pathogenic|likely pathogenic | 3 | 190388432 | 190388432 | Human | 1 | name |
| 150534566 | CV1300650 | single nucleotide variant | NM_006580.4(CLDN16):c.149G>A (p.Cys50Tyr) | not provided [RCV001758778] | uncertain significance | 3 | 190402371 | 190402371 | Human | | name |
| 150547245 | CV1302980 | single nucleotide variant | NM_006580.4(CLDN16):c.100G>A (p.Asp34Asn) | not provided [RCV001763725] | uncertain significance | 3 | 190388429 | 190388429 | Human | | name |
| 151663326 | CV1331070 | single nucleotide variant | NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly) | Primary hypomagnesemia [RCV001825243] | not provided | 3 | 190402370 | 190402370 | Human | | name |
| 8559006 | CV20964 | single nucleotide variant | NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter) | Primary hypomagnesemia [RCV000006288]|not provided [RCV002512826] | pathogenic | 3 | 190404779 | 190404779 | Human | 1 | name |
| 8559011 | CV20969 | single nucleotide variant | NM_006580.4(CLDN16):c.290T>C (p.Leu97Pro) | Primary hypomagnesemia [RCV000006293] | pathogenic | 3 | 190404834 | 190404834 | Human | 1 | name |
| 8559015 | CV20973 | single nucleotide variant | NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe) | Primary hypomagnesemia [RCV000006297]|not provided [RCV001093267] | pathogenic|conflicting interpretations of pathogenicity | 3 | 190404787 | 190404787 | Human | 1 | name |
| 8559016 | CV20974 | single nucleotide variant | NM_006580.4(CLDN16):c.242T>G (p.Leu81Trp) | Primary hypomagnesemia [RCV000006298] | pathogenic | 3 | 190404786 | 190404786 | Human | 1 | name |
| 8559017 | CV20975 | single nucleotide variant | NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro) | Primary hypomagnesemia [RCV000006299]|not provided [RCV001851694] | pathogenic | 3 | 190404768 | 190404768 | Human | 1 | name |
| 8559018 | CV20976 | single nucleotide variant | NM_006580.4(CLDN16):c.140G>A (p.Trp47Ter) | Primary hypomagnesemia [RCV000006300] | pathogenic | 3 | 190402362 | 190402362 | Human | 1 | name |
| 155923687 | CV2148648 | single nucleotide variant | NM_006580.4(CLDN16):c.232A>G (p.Thr78Ala) | not provided [RCV003013309] | uncertain significance | 3 | 190404776 | 190404776 | Human | | name |
| 156130042 | CV2182063 | single nucleotide variant | NM_006580.4(CLDN16):c.289C>G (p.Leu97Val) | not provided [RCV003055804] | uncertain significance | 3 | 190404833 | 190404833 | Human | | name |
| 407462361 | CV3419353 | single nucleotide variant | NM_006580.4(CLDN16):c.283A>T (p.Thr95Ser) | Inborn genetic diseases [RCV004612888] | uncertain significance | 3 | 190404827 | 190404827 | Human | 1 | name |
| 408394010 | CV3526326 | single nucleotide variant | NM_006580.4(CLDN16):c.148T>C (p.Cys50Arg) | Primary hypomagnesemia [RCV004771758] | uncertain significance | 3 | 190402370 | 190402370 | Human | 1 | name |
| 596938230 | CV3550025 | single nucleotide variant | NM_006580.4(CLDN16):c.152T>G (p.Val51Gly) | Thrombocytopenia 5 [RCV004813329] | pathogenic | 3 | 190402374 | 190402374 | Human | 1 | name |
| 597716411 | CV3717423 | single nucleotide variant | NM_006580.4(CLDN16):c.110T>C (p.Leu37Pro) | Primary hypomagnesemia [RCV005035296] | uncertain significance | 3 | 190388439 | 190388439 | Human | 1 | name |
| 597637951 | CV3717425 | single nucleotide variant | NM_006580.4(CLDN16):c.119G>A (p.Ser40Asn) | Primary hypomagnesemia [RCV005024568] | uncertain significance | 3 | 190402341 | 190402341 | Human | 1 | name |
| 597716419 | CV3717426 | single nucleotide variant | NM_006580.4(CLDN16):c.142T>C (p.Trp48Arg) | Primary hypomagnesemia [RCV005035297] | uncertain significance | 3 | 190402364 | 190402364 | Human | 1 | name |
| 597716430 | CV3717427 | single nucleotide variant | NM_006580.4(CLDN16):c.175C>T (p.Arg59Cys) | Primary hypomagnesemia [RCV005035298] | uncertain significance | 3 | 190402397 | 190402397 | Human | 1 | name |
| 597637956 | CV3717428 | single nucleotide variant | NM_006580.4(CLDN16):c.208G>A (p.Glu70Lys) | Primary hypomagnesemia [RCV005024569] | uncertain significance | 3 | 190402430 | 190402430 | Human | 1 | name |
| 597638571 | CV3717431 | single nucleotide variant | NM_006580.4(CLDN16):c.236G>T (p.Arg79Leu) | Primary hypomagnesemia [RCV005024572] | likely pathogenic | 3 | 190404780 | 190404780 | Human | 1 | name |
| 597637982 | CV3717432 | single nucleotide variant | NM_006580.4(CLDN16):c.238G>T (p.Ala80Ser) | Primary hypomagnesemia [RCV005024573] | uncertain significance | 3 | 190404782 | 190404782 | Human | 1 | name |
| 597921109 | CV3811828 | single nucleotide variant | NM_006580.4(CLDN16):c.139T>C (p.Trp47Arg) | not provided [RCV005155659] | uncertain significance | 3 | 190402361 | 190402361 | Human | | name |
| 598242756 | CV3944495 | single nucleotide variant | NM_006580.4(CLDN16):c.168T>A (p.Asp56Glu) | Inborn genetic diseases [RCV005321796] | uncertain significance | 3 | 190402390 | 190402390 | Human | 1 | name |
| 616937437 | CV4010425 | single nucleotide variant | NM_006580.4(CLDN16):c.127T>C (p.Cys43Arg) | Primary hypomagnesemia [RCV005406195] | uncertain significance | 3 | 190402349 | 190402349 | Human | 1 | name |
| 13435586 | CV432291 | deletion | NM_006580.4(CLDN16):c.468del (p.Gly157fs) | Primary hypomagnesemia [RCV000505624] | pathogenic | 3 | 190408398 | 190408398 | Human | 1 | name |
| 13674156 | CV536194 | single nucleotide variant | NM_006580.4(CLDN16):c.206C>T (p.Ala69Val) | Primary hypomagnesemia [RCV000656736] | pathogenic|likely pathogenic | 3 | 190402428 | 190402428 | Human | 1 | name |
| 38465604 | CV943451 | single nucleotide variant | NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro) | Primary hypomagnesemia [RCV002484254]|not provided [RCV001230173] | uncertain significance | 3 | 190388435 | 190388435 | Human | 1 | name |
| 150547309 | CV1291971 | single nucleotide variant | NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile) | Primary hypomagnesemia [RCV001733637] | uncertain significance | 3 | 190408397 | 190408397 | Human | 1 | name |
| 150536920 | CV1314367 | single nucleotide variant | NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr) | Primary hypomagnesemia [RCV001780794] | likely pathogenic | 3 | 190408425 | 190408425 | Human | 1 | name |
| 151873757 | CV1493353 | single nucleotide variant | NM_006580.4(CLDN16):c.562T>C (p.Tyr188His) | Inborn genetic diseases [RCV002557595]|Primary hypomagnesemia [RCV002484416]|not provided [RCV001906814] | uncertain significance | 3 | 190408493 | 190408493 | Human | 2 | name |
| 151853438 | CV1514617 | single nucleotide variant | NM_006580.4(CLDN16):c.415G>A (p.Ala139Thr) | not provided [RCV001979241] | likely pathogenic | 3 | 190408346 | 190408346 | Human | | name |
| 152057147 | CV1670548 | single nucleotide variant | NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) | Primary hypomagnesemia [RCV002502045]|not provided [RCV002226068] | likely pathogenic | 3 | 190408418 | 190408418 | Human | 1 | name |
| 155725933 | CV1773657 | single nucleotide variant | NM_006580.4(CLDN16):c.518C>T (p.Ser173Phe) | not provided [RCV002301449] | uncertain significance | 3 | 190408449 | 190408449 | Human | | name |
| 155721944 | CV1781338 | single nucleotide variant | NM_006580.4(CLDN16):c.329C>T (p.Pro110Leu) | not provided [RCV002306414] | uncertain significance | 3 | 190404873 | 190404873 | Human | | name |
| 156327823 | CV1982355 | single nucleotide variant | NM_006580.4(CLDN16):c.460A>G (p.Ile154Val) | Primary hypomagnesemia [RCV005032363]|not provided [RCV002649655] | uncertain significance | 3 | 190408391 | 190408391 | Human | 1 | name |
| 156414250 | CV1986560 | single nucleotide variant | NM_006580.4(CLDN16):c.547C>T (p.Leu183Phe) | not provided [RCV002609117] | uncertain significance | 3 | 190408478 | 190408478 | Human | | name |
| 156393417 | CV1988034 | single nucleotide variant | NM_006580.4(CLDN16):c.588G>C (p.Glu196Asp) | not provided [RCV002635210] | uncertain significance | 3 | 190409916 | 190409916 | Human | | name |
| 155911973 | CV2010953 | single nucleotide variant | NM_006580.4(CLDN16):c.398T>C (p.Ile133Thr) | not provided [RCV002681788] | uncertain significance | 3 | 190408329 | 190408329 | Human | | name |
| 155911362 | CV2037655 | single nucleotide variant | NM_006580.4(CLDN16):c.611G>T (p.Arg204Met) | not provided [RCV002771608] | uncertain significance | 3 | 190409939 | 190409939 | Human | | name |
| 8559007 | CV20965 | single nucleotide variant | NM_006580.4(CLDN16):c.505G>A (p.Gly169Arg) | Primary hypomagnesemia [RCV000006289]|not provided [RCV001851693] | pathogenic | 3 | 190408436 | 190408436 | Human | 1 | name |
| 8559008 | CV20966 | single nucleotide variant | NM_006580.4(CLDN16):c.361G>A (p.Gly121Arg) | Primary hypomagnesemia [RCV000006290] | pathogenic | 3 | 190404905 | 190404905 | Human | 1 | name |
| 8559009 | CV20967 | single nucleotide variant | NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) | Primary hypomagnesemia [RCV000006291]|not provided [RCV005089191] | pathogenic|likely pathogenic | 3 | 190408314 | 190408314 | Human | 1 | name |
| 8559012 | CV20970 | single nucleotide variant | NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) | Nephrocalcinosis [RCV000662319]|Primary hypomagnesemia [RCV000006294] | pathogenic|likely pathogenic|uncertain significance | 3 | 190408416 | 190408416 | Human | 4 | name |
| 8559013 | CV20971 | single nucleotide variant | NM_006580.4(CLDN16):c.488G>A (p.Gly163Asp) | Primary hypomagnesemia [RCV000006295] | pathogenic | 3 | 190408419 | 190408419 | Human | 1 | name |
| 8559014 | CV20972 | single nucleotide variant | NM_006580.4(CLDN16):c.494C>T (p.Ser165Phe) | Primary hypomagnesemia [RCV000006296] | pathogenic | 3 | 190408425 | 190408425 | Human | 1 | name |
| 8559019 | CV20977 | single nucleotide variant | NM_006580.4(CLDN16):c.453G>T (p.Leu151Phe) | Primary hypomagnesemia [RCV000006301] | pathogenic | 3 | 190408384 | 190408384 | Human | 1 | name |
| 8559020 | CV20978 | single nucleotide variant | NM_006580.4(CLDN16):c.698C>G (p.Thr233Arg) | HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING [RCV000006302] | pathogenic | 3 | 190410026 | 190410026 | Human | 1 | name |
| 8559021 | CV20979 | single nucleotide variant | NM_006580.4(CLDN16):c.621T>G (p.Tyr207Ter) | Primary hypomagnesemia [RCV000006303] | pathogenic | 3 | 190409949 | 190409949 | Human | 1 | name |
| 156186964 | CV2195720 | single nucleotide variant | NM_006580.4(CLDN16):c.698C>A (p.Thr233Lys) | Inborn genetic diseases [RCV002665652] | uncertain significance | 3 | 190410026 | 190410026 | Human | 1 | name |
| 329378126 | CV2450163 | single nucleotide variant | NM_006580.4(CLDN16):c.470G>A (p.Gly157Asp) | Inborn genetic diseases [RCV003186528] | uncertain significance | 3 | 190408401 | 190408401 | Human | 1 | name |
| 401744398 | CV2688155 | single nucleotide variant | NM_006580.4(CLDN16):c.413A>T (p.Tyr138Phe) | Inborn genetic diseases [RCV003275288] | uncertain significance | 3 | 190408344 | 190408344 | Human | 1 | name |
| 11587702 | CV290489 | single nucleotide variant | NM_006580.4(CLDN16):c.670G>A (p.Glu224Lys) | Primary hypomagnesemia [RCV000297264] | uncertain significance | 3 | 190409998 | 190409998 | Human | 1 | name |
| 11582560 | CV294157 | single nucleotide variant | NM_006580.4(CLDN16):c.620A>G (p.Tyr207Cys) | Primary hypomagnesemia [RCV000260809]|not provided [RCV000905980] | benign|uncertain significance | 3 | 190409948 | 190409948 | Human | 1 | name |
| 405243618 | CV2971655 | single nucleotide variant | NM_006580.4(CLDN16):c.641T>C (p.Met214Thr) | not provided [RCV003684633] | uncertain significance | 3 | 190409969 | 190409969 | Human | | name |
| 405117252 | CV3115953 | single nucleotide variant | NM_006580.4(CLDN16):c.674C>T (p.Thr225Met) | Primary hypomagnesemia [RCV005038532]|not provided [RCV003814443] | uncertain significance | 3 | 190410002 | 190410002 | Human | 1 | name |
| 405853752 | CV3395180 | single nucleotide variant | NM_006580.4(CLDN16):c.623C>A (p.Ser208Ter) | Primary hypomagnesemia [RCV004555322] | uncertain significance | 3 | 190409951 | 190409951 | Human | 1 | name |
| 407426985 | CV3409210 | single nucleotide variant | NM_006580.4(CLDN16):c.374T>C (p.Leu125Pro) | Primary hypomagnesemia [RCV004585142] | pathogenic | 3 | 190404918 | 190404918 | Human | 1 | name |
| 408386113 | CV3521981 | single nucleotide variant | NM_006580.4(CLDN16):c.436C>T (p.Arg146Cys) | Primary hypomagnesemia [RCV004760306] | likely pathogenic | 3 | 190408367 | 190408367 | Human | 1 | name |
| 597716441 | CV3717435 | single nucleotide variant | NM_006580.4(CLDN16):c.389C>G (p.Pro130Arg) | Primary hypomagnesemia [RCV005035299] | uncertain significance | 3 | 190408320 | 190408320 | Human | 1 | name |
| 597716450 | CV3717436 | single nucleotide variant | NM_006580.4(CLDN16):c.478T>C (p.Tyr160His) | Primary hypomagnesemia [RCV005035300] | uncertain significance | 3 | 190408409 | 190408409 | Human | 1 | name |
| 597637994 | CV3717437 | single nucleotide variant | NM_006580.4(CLDN16):c.491G>T (p.Trp164Leu) | Primary hypomagnesemia [RCV005024575] | uncertain significance | 3 | 190408422 | 190408422 | Human | 1 | name |
| 597637999 | CV3717438 | single nucleotide variant | NM_006580.4(CLDN16):c.539G>T (p.Gly180Val) | Primary hypomagnesemia [RCV005024576] | uncertain significance | 3 | 190408470 | 190408470 | Human | 1 | name |
| 597716473 | CV3717440 | single nucleotide variant | NM_006580.4(CLDN16):c.613A>G (p.Lys205Glu) | Primary hypomagnesemia [RCV005035302] | uncertain significance | 3 | 190409941 | 190409941 | Human | 1 | name |
| 597638005 | CV3717441 | single nucleotide variant | NM_006580.4(CLDN16):c.662C>G (p.Pro221Arg) | Primary hypomagnesemia [RCV005024577] | uncertain significance | 3 | 190409990 | 190409990 | Human | 1 | name |
| 8568324 | CV39362 | single nucleotide variant | NM_006580.4(CLDN16):c.613A>T (p.Lys205Ter) | Primary hypomagnesemia [RCV000023358] | pathogenic | 3 | 190409941 | 190409941 | Human | 1 | name |
| 616938524 | CV4015013 | single nucleotide variant | NM_006580.4(CLDN16):c.534G>C (p.Leu178Phe) | not provided [RCV005412029] | uncertain significance | 3 | 190408465 | 190408465 | Human | | name |
| 13798576 | CV551446 | single nucleotide variant | NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu) | Primary hypomagnesemia [RCV000678491] | pathogenic | 3 | 190408323 | 190408323 | Human | 1 | name |
| 15184859 | CV720351 | single nucleotide variant | NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp) | CLDN16-related disorder [RCV003920663]|Primary hypomagnesemia [RCV001144100]|not provided [RCV000886541] | benign|likely benign|uncertain significance | 3 | 190409954 | 190409954 | Human | 2 | name , trait , alternate_id |
| 21071283 | CV790374 | single nucleotide variant | NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) | Primary hypomagnesemia [RCV000987375] | likely pathogenic | 3 | 190404926 | 190404926 | Human | 1 | name |
| 26915211 | CV827816 | single nucleotide variant | NM_006580.4(CLDN16):c.355G>T (p.Val119Phe) | not provided [RCV001038625] | uncertain significance | 3 | 190404899 | 190404899 | Human | | name |
| 28905669 | CV859245 | single nucleotide variant | NM_006580.4(CLDN16):c.437G>A (p.Arg146His) | Primary hypomagnesemia [RCV003142041]|not provided [RCV001093268] | pathogenic|likely pathogenic | 3 | 190408368 | 190408368 | Human | 1 | name |
| 28903569 | CV888534 | single nucleotide variant | NM_006580.4(CLDN16):c.539G>C (p.Gly180Ala) | Primary hypomagnesemia [RCV001144096]|not provided [RCV002032364] | uncertain significance | 3 | 190408470 | 190408470 | Human | 1 | name |
| 28903581 | CV888536 | single nucleotide variant | NM_006580.4(CLDN16):c.596A>G (p.Tyr199Cys) | Primary hypomagnesemia [RCV001144099] | uncertain significance | 3 | 190409924 | 190409924 | Human | 1 | name |
| 28903586 | CV888537 | single nucleotide variant | NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr) | Primary hypomagnesemia [RCV001144101] | uncertain significance | 3 | 190409956 | 190409956 | Human | 1 | name |
| 38499997 | CV953413 | single nucleotide variant | NM_006580.4(CLDN16):c.392G>C (p.Gly131Ala) | Inborn genetic diseases [RCV002564094]|Primary hypomagnesemia [RCV005029831]|not provided [RCV001245388] | uncertain significance | 3 | 190408323 | 190408323 | Human | 2 | name |
| 41406733 | CV962698 | single nucleotide variant | NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) | Inborn genetic diseases [RCV002570440]|Primary hypomagnesemia [RCV001281173]|not provided [RCV001879805] | likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 190408389 | 190408389 | Human | 2 | name |
| 11649082 | CV293570 | deletion | NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs) | Primary hypomagnesemia [RCV000285445] | uncertain significance | 3 | 190388155 | 190388155 | Human | | name |
| 597716462 | CV3717439 | duplication | NM_006580.4(CLDN16):c.608_663dup (p.Arg222Ter) | Primary hypomagnesemia [RCV005035301] | likely pathogenic | 3 | 190409932 | 190409933 | Human | 1 | name |
| 40815559 | CV970763 | insertion | NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs) | Primary hypomagnesemia [RCV001263013] | uncertain significance | 3 | 190404824 | 190404825 | Human | 1 | name |
| 402479861 | CV3033238 | deletion | NM_006580.4(CLDN16):c.39_50del (p.Phe14_Ala17del) | not provided [RCV003712723] | uncertain significance | 3 | 190388365 | 190388376 | Human | | name |
| 13674157 | CV536195 | duplication | NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer) | Primary hypomagnesemia [RCV000656737] | pathogenic|likely pathogenic | 3 | 190404877 | 190404878 | Human | 1 | name |
