| 401922980 | CV2825056 | single nucleotide variant | NM_005602.6(CLDN11):c.153G>T (p.Gly51=) | not provided [RCV003434792] | likely benign | 3 | 170419219 | 170419219 | Human | | name |
| 152102753 | CV1667319 | single nucleotide variant | NM_005602.6(CLDN11):c.336C>T (p.Pro112=) | not provided [RCV002214306] | likely benign | 3 | 170423272 | 170423272 | Human | | name |
| 401927581 | CV2825058 | single nucleotide variant | NM_005602.6(CLDN11):c.615C>G (p.Ala205=) | not provided [RCV003439051] | likely benign | 3 | 170432747 | 170432747 | Human | | name |
| 405852927 | CV3393355 | single nucleotide variant | NM_005602.6(CLDN11):c.606G>A (p.Ala202=) | not provided [RCV004546085] | benign | 3 | 170432738 | 170432738 | Human | | name |
| 401963836 | CV2844877 | single nucleotide variant | NM_005602.6(CLDN11):c.232G>A (p.Val78Met) | Leukodystrophy, hypomyelinating, 22 [RCV003484454] | uncertain significance | 3 | 170423168 | 170423168 | Human | 1 | name |
| 405706829 | CV3225212 | single nucleotide variant | NM_005602.6(CLDN11):c.179C>G (p.Thr60Arg) | Leukodystrophy, hypomyelinating, 22 [RCV003990266] | uncertain significance | 3 | 170419245 | 170419245 | Human | 1 | name |
| 127273022 | CV1108676 | single nucleotide variant | NM_005602.6(CLDN11):c.622T>C (p.Ter208Gln) | Leukodystrophy, hypomyelinating, 22 [RCV001431513] | pathogenic | 3 | 170432754 | 170432754 | Human | 1 | name |
| 127273028 | CV1108677 | single nucleotide variant | NM_005602.6(CLDN11):c.622T>G (p.Ter208Glu) | Leukodystrophy, hypomyelinating, 22 [RCV001431515] | pathogenic | 3 | 170432754 | 170432754 | Human | 1 | name |
| 156304107 | CV2308569 | single nucleotide variant | NM_005602.6(CLDN11):c.563A>G (p.Asn188Ser) | not specified [RCV004166844] | uncertain significance | 3 | 170432695 | 170432695 | Human | | name |
| 329366563 | CV2441712 | single nucleotide variant | NM_005602.6(CLDN11):c.508G>A (p.Val170Met) | not specified [RCV004259881] | uncertain significance | 3 | 170432640 | 170432640 | Human | | name |
| 329390492 | CV2459291 | single nucleotide variant | NM_005602.6(CLDN11):c.508G>C (p.Val170Leu) | not specified [RCV004274718] | uncertain significance | 3 | 170432640 | 170432640 | Human | | name |
| 401927578 | CV2825057 | single nucleotide variant | NM_005602.6(CLDN11):c.601C>T (p.His201Tyr) | not provided [RCV003439050] | uncertain significance | 3 | 170432733 | 170432733 | Human | | name |
| 598228172 | CV3894598 | single nucleotide variant | NM_005602.6(CLDN11):c.319C>G (p.Arg107Gly) | not provided [RCV005257842] | uncertain significance | 3 | 170423255 | 170423255 | Human | | name |
| 598242726 | CV3948431 | single nucleotide variant | NM_005602.6(CLDN11):c.349T>C (p.Tyr117His) | not specified [RCV005321790] | uncertain significance | 3 | 170423285 | 170423285 | Human | | name |
| 598242731 | CV3948432 | single nucleotide variant | NM_005602.6(CLDN11):c.581C>T (p.Ala194Val) | not specified [RCV005321791] | uncertain significance | 3 | 170432713 | 170432713 | Human | | name |
| 14978456 | CV677351 | deletion | NM_005602.6(CLDN11):c.93_104del (p.Val32_Gly35del) | Marfanoid habitus and intellectual disability [RCV000850417] | uncertain significance | 3 | 170419159 | 170419170 | Human | 1 | name |