| 15121271 | CV776036 | single nucleotide variant | NM_001872.5(CPB2):c.75-4C>G | not provided [RCV000940491] | likely benign | 13 | 46087824 | 46087824 | Human | | name |
| 8582851 | CV117407 | single nucleotide variant | NM_001872.4(CPB2):c.75-7361C>T | Lung cancer [RCV000097928] | uncertain significance | 13 | 46095181 | 46095181 | Human | | name |
| 405288328 | CV3197294 | single nucleotide variant | NM_001872.5(CPB2):c.291T>C (p.Asp97=) | CPB2-related disorder [RCV003982390] | benign | 13 | 46082534 | 46082534 | Human | | name , trait , alternate_id |
| 407456969 | CV3419581 | single nucleotide variant | NM_001872.5(CPB2):c.20C>A (p.Ala7Glu) | not specified [RCV004610975] | uncertain significance | 13 | 46104990 | 46104990 | Human | | name |
| 407456975 | CV3419583 | single nucleotide variant | NM_001872.5(CPB2):c.16C>T (p.Leu6Phe) | not specified [RCV004610977] | likely benign | 13 | 46104994 | 46104994 | Human | | name |
| 405276138 | CV3193244 | single nucleotide variant | NM_001872.5(CPB2):c.753C>T (p.Ile251=) | CPB2-related disorder [RCV003974410] | benign | 13 | 46064691 | 46064691 | Human | 2 | name , trait , alternate_id |
| 405284416 | CV3196833 | single nucleotide variant | NM_001872.5(CPB2):c.678T>C (p.Asp226=) | CPB2-related disorder [RCV003979706] | benign | 13 | 46067331 | 46067331 | Human | | name , trait , alternate_id |
| 405280402 | CV3200725 | single nucleotide variant | NM_001872.5(CPB2):c.663A>G (p.Pro221=) | CPB2-related disorder [RCV003977350] | benign | 13 | 46067346 | 46067346 | Human | | name , trait , alternate_id |
| 405272849 | CV3210174 | single nucleotide variant | NM_001872.5(CPB2):c.552A>G (p.Glu184=) | CPB2-related disorder [RCV003914415] | likely benign | 13 | 46073912 | 46073912 | Human | | name , trait , alternate_id |
| 407456967 | CV3419580 | single nucleotide variant | NM_001872.5(CPB2):c.64G>A (p.Ala22Thr) | not specified [RCV004610974] | uncertain significance | 13 | 46104946 | 46104946 | Human | | name |
| 15179176 | CV725497 | single nucleotide variant | NM_001872.5(CPB2):c.735T>C (p.Tyr245=) | not provided [RCV000885232] | likely benign | 13 | 46064709 | 46064709 | Human | | name |
| 15161218 | CV725498 | single nucleotide variant | NM_001872.5(CPB2):c.426T>C (p.Asp142=) | not provided [RCV000881532] | benign | 13 | 46078860 | 46078860 | Human | | name |
| 401868579 | CV2767279 | single nucleotide variant | NM_001872.5(CPB2):c.197A>C (p.Lys66Thr) | not specified [RCV004349449] | uncertain significance | 13 | 46084297 | 46084297 | Human | | name |
| 405268284 | CV3198845 | single nucleotide variant | NM_001872.5(CPB2):c.1215T>C (p.Cys405=) | CPB2-related disorder [RCV003911964] | likely benign | 13 | 46053671 | 46053671 | Human | | name , trait , alternate_id |
| 405686283 | CV3235880 | single nucleotide variant | NM_001872.5(CPB2):c.256G>A (p.Val86Met) | not specified [RCV004372394] | uncertain significance | 13 | 46084238 | 46084238 | Human | | name |
| 405686288 | CV3235881 | single nucleotide variant | NM_001872.5(CPB2):c.268C>T (p.Pro90Ser) | not specified [RCV004372395] | uncertain significance | 13 | 46084226 | 46084226 | Human | | name |
| 596947587 | CV3549146 | single nucleotide variant | NM_001872.5(CPB2):c.1090C>T (p.Leu364=) | not provided [RCV004811470] | likely benign | 13 | 46053796 | 46053796 | Human | | name |
| 597650460 | CV3650989 | single nucleotide variant | NM_001872.5(CPB2):c.136A>C (p.Thr46Pro) | not specified [RCV004910464] | uncertain significance | 13 | 46087759 | 46087759 | Human | | name |
| 401884428 | CV2761728 | single nucleotide variant | NM_001872.5(CPB2):c.737C>T (p.Ala246Val) | not specified [RCV004337338] | uncertain significance | 13 | 46064707 | 46064707 | Human | | name |
| 401894001 | CV2770209 | single nucleotide variant | NM_001872.5(CPB2):c.353C>T (p.Ser118Leu) | not specified [RCV004356100] | uncertain significance | 13 | 46082472 | 46082472 | Human | | name |
| 405276600 | CV3193470 | single nucleotide variant | NM_001872.5(CPB2):c.505G>A (p.Ala169Thr) | CPB2-related disorder [RCV003974638] | benign | 13 | 46073959 | 46073959 | Human | 1 | name , trait , alternate_id |
| 405686294 | CV3235882 | single nucleotide variant | NM_001872.5(CPB2):c.349G>T (p.Ala117Ser) | not specified [RCV004372396] | likely benign | 13 | 46082476 | 46082476 | Human | | name |
| 405686298 | CV3235883 | single nucleotide variant | NM_001872.5(CPB2):c.386T>C (p.Ile129Thr) | not specified [RCV004372397] | uncertain significance | 13 | 46078900 | 46078900 | Human | | name |
| 407456972 | CV3419582 | single nucleotide variant | NM_001872.5(CPB2):c.314A>G (p.Gln105Arg) | not specified [RCV004610976] | uncertain significance | 13 | 46082511 | 46082511 | Human | | name |
| 597650433 | CV3650985 | single nucleotide variant | NM_001872.5(CPB2):c.511A>G (p.Lys171Glu) | not specified [RCV004910461] | uncertain significance | 13 | 46073953 | 46073953 | Human | | name |
| 598235460 | CV3945192 | single nucleotide variant | NM_001872.5(CPB2):c.448G>A (p.Gly150Arg) | not specified [RCV005320256] | uncertain significance | 13 | 46078838 | 46078838 | Human | | name |
| 598264940 | CV3945196 | single nucleotide variant | NM_001872.5(CPB2):c.475T>C (p.Tyr159His) | not specified [RCV005326232] | uncertain significance | 13 | 46078811 | 46078811 | Human | | name |
| 156294184 | CV2321391 | single nucleotide variant | NM_001872.5(CPB2):c.1018G>A (p.Ala340Thr) | not specified [RCV004177382] | uncertain significance | 13 | 46055831 | 46055831 | Human | | name |
| 329379502 | CV2443437 | single nucleotide variant | NM_001872.5(CPB2):c.1184T>C (p.Leu395Ser) | not specified [RCV004262277] | uncertain significance | 13 | 46053702 | 46053702 | Human | | name |
| 329389961 | CV2457369 | single nucleotide variant | NM_001872.5(CPB2):c.1081A>G (p.Thr361Ala) | not specified [RCV004267202] | uncertain significance | 13 | 46055768 | 46055768 | Human | | name |
| 401889352 | CV2759786 | single nucleotide variant | NM_001872.5(CPB2):c.1006G>T (p.Val336Leu) | not specified [RCV004342826] | uncertain significance | 13 | 46055843 | 46055843 | Human | | name |
| 405284128 | CV3196651 | single nucleotide variant | NM_001872.5(CPB2):c.1040T>C (p.Ile347Thr) | CPB2-related disorder [RCV003979559] | benign | 13 | 46055809 | 46055809 | Human | 8 | name , trait , alternate_id |
| 407456978 | CV3419584 | single nucleotide variant | NM_001872.5(CPB2):c.1221A>T (p.Glu407Asp) | not specified [RCV004610978] | likely benign | 13 | 46053665 | 46053665 | Human | | name |
| 597650442 | CV3650986 | single nucleotide variant | NM_001872.5(CPB2):c.1172C>T (p.Thr391Ile) | not specified [RCV004910462] | uncertain significance | 13 | 46053714 | 46053714 | Human | | name |
| 597650450 | CV3650988 | single nucleotide variant | NM_001872.5(CPB2):c.1211C>T (p.Thr404Ile) | not specified [RCV004910463] | uncertain significance | 13 | 46053675 | 46053675 | Human | | name |
| 598235467 | CV3945193 | single nucleotide variant | NM_001872.5(CPB2):c.1079A>G (p.Glu360Gly) | not specified [RCV005320257] | uncertain significance | 13 | 46055770 | 46055770 | Human | | name |
| 598235474 | CV3945194 | single nucleotide variant | NM_001872.5(CPB2):c.1217G>C (p.Arg406Thr) | not specified [RCV005320258] | likely benign | 13 | 46053669 | 46053669 | Human | | name |
| 8635054 | CV90276 | single nucleotide variant | NM_001872.4(CPB2):c.1226T>C (p.Phe409Ser) | Malignant melanoma [RCV000070374] | not provided | 13 | 46053660 | 46053660 | Human | | name |
| 408367313 | CV3509922 | deletion | NM_001872.5(CPB2):c.609del (p.Gly203_Ile204insTer) | CPB2-related disorder [RCV004758361] | uncertain significance | 13 | 46067400 | 46067400 | Human | | name , trait , alternate_id |