| 405781649 | CV3305547 | single nucleotide variant | NM_004362.3(CLGN):c.7T>A (p.Phe3Ile) | not specified [RCV004437059] | uncertain significance | 4 | 140413072 | 140413072 | Human | | name |
| 155981128 | CV2212191 | single nucleotide variant | NM_004362.3(CLGN):c.83C>T (p.Thr28Met) | not specified [RCV004089083] | likely benign | 4 | 140412996 | 140412996 | Human | | name |
| 401886006 | CV2771561 | single nucleotide variant | NM_004362.3(CLGN):c.51T>G (p.Ile17Met) | not specified [RCV004348585] | uncertain significance | 4 | 140413028 | 140413028 | Human | | name |
| 405781643 | CV3305546 | single nucleotide variant | NM_004362.3(CLGN):c.76G>A (p.Val26Ile) | not specified [RCV004437058] | uncertain significance | 4 | 140413003 | 140413003 | Human | | name |
| 405781656 | CV3305548 | single nucleotide variant | NM_004362.3(CLGN):c.81G>C (p.Glu27Asp) | not specified [RCV004437060] | uncertain significance | 4 | 140412998 | 140412998 | Human | | name |
| 15145041 | CV709174 | single nucleotide variant | NM_004362.3(CLGN):c.555T>C (p.Cys185=) | not provided [RCV000966929] | benign | 4 | 140400496 | 140400496 | Human | | name |
| 401776689 | CV2711277 | single nucleotide variant | NM_004362.3(CLGN):c.129T>A (p.Ser43Arg) | not specified [RCV004313060] | uncertain significance | 4 | 140412950 | 140412950 | Human | | name |
| 405781618 | CV3305542 | single nucleotide variant | NM_004362.3(CLGN):c.274G>A (p.Asp92Asn) | not specified [RCV004437054] | uncertain significance | 4 | 140409840 | 140409840 | Human | | name |
| 597791300 | CV3656630 | single nucleotide variant | NM_004362.3(CLGN):c.179T>C (p.Val60Ala) | not specified [RCV004902277] | uncertain significance | 4 | 140410592 | 140410592 | Human | | name |
| 598243608 | CV3944642 | single nucleotide variant | NM_004362.3(CLGN):c.188C>G (p.Ala63Gly) | not specified [RCV005321937] | uncertain significance | 4 | 140410583 | 140410583 | Human | | name |
| 156345598 | CV2291115 | single nucleotide variant | NM_004362.3(CLGN):c.628G>A (p.Ala210Thr) | not specified [RCV004151639] | uncertain significance | 4 | 140400423 | 140400423 | Human | | name |
| 156304223 | CV2304722 | single nucleotide variant | NM_004362.3(CLGN):c.970G>C (p.Asp324His) | not specified [RCV004166878] | uncertain significance | 4 | 140396120 | 140396120 | Human | | name |
| 329391035 | CV2447645 | single nucleotide variant | NM_004362.3(CLGN):c.498T>G (p.Ile166Met) | not specified [RCV004258445] | uncertain significance | 4 | 140401988 | 140401988 | Human | | name |
| 401863505 | CV2765861 | single nucleotide variant | NM_004362.3(CLGN):c.309C>A (p.Asn103Lys) | not specified [RCV004337898] | uncertain significance | 4 | 140406052 | 140406052 | Human | | name |
| 401887633 | CV2773558 | single nucleotide variant | NM_004362.3(CLGN):c.443G>T (p.Gly148Val) | not specified [RCV004355966] | uncertain significance | 4 | 140402043 | 140402043 | Human | | name |
| 405781624 | CV3305543 | single nucleotide variant | NM_004362.3(CLGN):c.373G>A (p.Val125Ile) | not specified [RCV004437055] | uncertain significance | 4 | 140405988 | 140405988 | Human | | name |
| 405781630 | CV3305544 | single nucleotide variant | NM_004362.3(CLGN):c.586A>G (p.Arg196Gly) | not specified [RCV004437056] | uncertain significance | 4 | 140400465 | 140400465 | Human | | name |
| 405781637 | CV3305545 | single nucleotide variant | NM_004362.3(CLGN):c.748A>G (p.Lys250Glu) | not specified [RCV004437057] | uncertain significance | 4 | 140398987 | 140398987 | Human | | name |
| 405781661 | CV3305549 | single nucleotide variant | NM_004362.3(CLGN):c.970G>A (p.Asp324Asn) | not specified [RCV004437061] | uncertain significance | 4 | 140396120 | 140396120 | Human | | name |
| 405781667 | CV3305550 | single nucleotide variant | NM_004362.3(CLGN):c.991G>A (p.Asp331Asn) | not specified [RCV004437062] | uncertain significance | 4 | 140396099 | 140396099 | Human | | name |
| 407462654 | CV3419474 | single nucleotide variant | NM_004362.3(CLGN):c.868G>T (p.Val290Phe) | not specified [RCV004613009] | uncertain significance | 4 | 140398867 | 140398867 | Human | | name |
| 407462661 | CV3419476 | single nucleotide variant | NM_004362.3(CLGN):c.401A>G (p.Asp134Gly) | not specified [RCV004613011] | uncertain significance | 4 | 140405960 | 140405960 | Human | | name |
| 597791297 | CV3656629 | single nucleotide variant | NM_004362.3(CLGN):c.313G>C (p.Val105Leu) | not specified [RCV004902276] | uncertain significance | 4 | 140406048 | 140406048 | Human | | name |
| 597791304 | CV3656631 | single nucleotide variant | NM_004362.3(CLGN):c.856G>A (p.Asp286Asn) | not specified [RCV004902278] | uncertain significance | 4 | 140398879 | 140398879 | Human | | name |
| 597791321 | CV3656637 | single nucleotide variant | NM_004362.3(CLGN):c.412A>C (p.Ile138Leu) | not specified [RCV004902284] | uncertain significance | 4 | 140405949 | 140405949 | Human | | name |
| 598243582 | CV3944638 | single nucleotide variant | NM_004362.3(CLGN):c.485C>T (p.Thr162Ile) | not specified [RCV005321933] | uncertain significance | 4 | 140402001 | 140402001 | Human | | name |
| 598243590 | CV3944639 | single nucleotide variant | NM_004362.3(CLGN):c.812A>G (p.Asn271Ser) | not specified [RCV005321934] | likely benign | 4 | 140398923 | 140398923 | Human | | name |
| 598243615 | CV3944643 | single nucleotide variant | NM_004362.3(CLGN):c.385C>A (p.Pro129Thr) | not specified [RCV005321938] | uncertain significance | 4 | 140405976 | 140405976 | Human | | name |
| 14350159 | CV590848 | single nucleotide variant | NM_004362.3(CLGN):c.959A>G (p.Lys320Arg) | Short stature [RCV000736209] | likely pathogenic | 4 | 140396131 | 140396131 | Human | 2 | name |
| 14350161 | CV590849 | single nucleotide variant | NM_004362.3(CLGN):c.731A>G (p.Asp244Gly) | Short stature [RCV000736210]|not specified [RCV004027118] | likely pathogenic|uncertain significance | 4 | 140399004 | 140399004 | Human | 2 | name |
| 14350162 | CV590850 | single nucleotide variant | NM_004362.3(CLGN):c.386C>A (p.Pro129Gln) | Short stature [RCV000736211]|not specified [RCV004609517] | likely pathogenic|uncertain significance | 4 | 140405975 | 140405975 | Human | 2 | name |
| 156098338 | CV2294540 | single nucleotide variant | NM_004362.3(CLGN):c.1160G>A (p.Ser387Asn) | not specified [RCV004161815] | uncertain significance | 4 | 140394031 | 140394031 | Human | | name |
| 156141300 | CV2358393 | single nucleotide variant | NM_004362.3(CLGN):c.1309G>T (p.Asp437Tyr) | not specified [RCV004207288] | uncertain significance | 4 | 140393882 | 140393882 | Human | | name |
| 329386305 | CV2428246 | single nucleotide variant | NM_004362.3(CLGN):c.1718G>A (p.Ser573Asn) | not specified [RCV004251276] | uncertain significance | 4 | 140390662 | 140390662 | Human | | name |
| 329377005 | CV2456808 | single nucleotide variant | NM_004362.3(CLGN):c.1637A>C (p.Glu546Ala) | not specified [RCV004270779] | uncertain significance | 4 | 140392233 | 140392233 | Human | | name |
| 329394842 | CV2457672 | single nucleotide variant | NM_004362.3(CLGN):c.1085T>A (p.Met362Lys) | not specified [RCV004269525] | uncertain significance | 4 | 140395883 | 140395883 | Human | | name |
| 401771540 | CV2686223 | single nucleotide variant | NM_004362.3(CLGN):c.1660A>G (p.Ser554Gly) | not specified [RCV004297316] | likely benign | 4 | 140390720 | 140390720 | Human | | name |
| 401865797 | CV2755641 | single nucleotide variant | NM_004362.3(CLGN):c.1808G>A (p.Arg603His) | not specified [RCV004342026] | uncertain significance | 4 | 140389249 | 140389249 | Human | | name |
| 401889333 | CV2759778 | single nucleotide variant | NM_004362.3(CLGN):c.1292C>T (p.Ser431Leu) | not specified [RCV004342819] | uncertain significance | 4 | 140393899 | 140393899 | Human | | name |
| 401893927 | CV2770094 | single nucleotide variant | NM_004362.3(CLGN):c.1328G>A (p.Gly443Asp) | not specified [RCV004356004] | uncertain significance | 4 | 140393863 | 140393863 | Human | | name |
| 405781578 | CV3305536 | single nucleotide variant | NM_004362.3(CLGN):c.1119A>T (p.Arg373Ser) | not specified [RCV004437048] | uncertain significance | 4 | 140395849 | 140395849 | Human | | name |
| 405781585 | CV3305537 | single nucleotide variant | NM_004362.3(CLGN):c.1234G>T (p.Gly412Cys) | not specified [RCV004437049] | uncertain significance | 4 | 140393957 | 140393957 | Human | | name |
| 405781592 | CV3305538 | single nucleotide variant | NM_004362.3(CLGN):c.1520A>C (p.Lys507Thr) | not specified [RCV004437050] | uncertain significance | 4 | 140392350 | 140392350 | Human | | name |
| 405781596 | CV3305539 | single nucleotide variant | NM_004362.3(CLGN):c.1585G>A (p.Ala529Thr) | not specified [RCV004437051] | uncertain significance | 4 | 140392285 | 140392285 | Human | | name |
| 405781603 | CV3305540 | single nucleotide variant | NM_004362.3(CLGN):c.1603G>T (p.Asp535Tyr) | not specified [RCV004437052] | uncertain significance | 4 | 140392267 | 140392267 | Human | | name |
| 405781611 | CV3305541 | single nucleotide variant | NM_004362.3(CLGN):c.1823G>A (p.Arg608Gln) | not specified [RCV004437053] | uncertain significance | 4 | 140389234 | 140389234 | Human | | name |
| 407462657 | CV3419475 | single nucleotide variant | NM_004362.3(CLGN):c.1456T>G (p.Leu486Val) | not specified [RCV004613010] | uncertain significance | 4 | 140392621 | 140392621 | Human | | name |
| 597791290 | CV3656627 | single nucleotide variant | NM_004362.3(CLGN):c.1055G>A (p.Arg352Gln) | not specified [RCV004902274] | likely benign | 4 | 140395913 | 140395913 | Human | | name |
| 597791293 | CV3656628 | single nucleotide variant | NM_004362.3(CLGN):c.1192G>A (p.Glu398Lys) | not specified [RCV004902275] | uncertain significance | 4 | 140393999 | 140393999 | Human | | name |
| 597791309 | CV3656633 | single nucleotide variant | NM_004362.3(CLGN):c.1237T>G (p.Leu413Val) | not specified [RCV004902280] | uncertain significance | 4 | 140393954 | 140393954 | Human | | name |
| 597791312 | CV3656634 | single nucleotide variant | NM_004362.3(CLGN):c.1267T>G (p.Tyr423Asp) | not specified [RCV004902281] | uncertain significance | 4 | 140393924 | 140393924 | Human | | name |
| 597791315 | CV3656635 | single nucleotide variant | NM_004362.3(CLGN):c.1754T>C (p.Met585Thr) | not specified [RCV004902282] | uncertain significance | 4 | 140389303 | 140389303 | Human | | name |
| 597791318 | CV3656636 | single nucleotide variant | NM_004362.3(CLGN):c.1061G>A (p.Gly354Glu) | not specified [RCV004902283] | uncertain significance | 4 | 140395907 | 140395907 | Human | | name |
| 597791324 | CV3656638 | single nucleotide variant | NM_004362.3(CLGN):c.1409C>T (p.Pro470Leu) | not specified [RCV004902285] | uncertain significance | 4 | 140392668 | 140392668 | Human | | name |
| 598243594 | CV3944640 | single nucleotide variant | NM_004362.3(CLGN):c.1513T>C (p.Tyr505His) | not specified [RCV005321935] | uncertain significance | 4 | 140392357 | 140392357 | Human | | name |
| 598243603 | CV3944641 | single nucleotide variant | NM_004362.3(CLGN):c.1793C>T (p.Pro598Leu) | not specified [RCV005321936] | uncertain significance | 4 | 140389264 | 140389264 | Human | | name |
| 598243623 | CV3944644 | single nucleotide variant | NM_004362.3(CLGN):c.1214T>C (p.Leu405Pro) | not specified [RCV005321939] | uncertain significance | 4 | 140393977 | 140393977 | Human | | name |
| 598243630 | CV3944645 | single nucleotide variant | NM_004362.3(CLGN):c.1451T>C (p.Ile484Thr) | not specified [RCV005321940] | uncertain significance | 4 | 140392626 | 140392626 | Human | | name |
| 598243646 | CV3944647 | single nucleotide variant | NM_004362.3(CLGN):c.1468T>C (p.Phe490Leu) | not specified [RCV005321942] | uncertain significance | 4 | 140392609 | 140392609 | Human | | name |
| 8625718 | CV80842 | single nucleotide variant | NM_001130675.1(CLGN):c.600C>A (p.Pro200=) | Malignant melanoma [RCV000060919] | not provided | 4 | 140400451 | 140400451 | Human | | name |
| 8631031 | CV86187 | single nucleotide variant | NM_001130675.1(CLGN):c.607G>A (p.Gly203Arg) | Malignant melanoma [RCV000066277] | not provided | 4 | 140400444 | 140400444 | Human | | name |