| 407476672 | CV3494981 | single nucleotide variant | NM_015557.3(CHD5):c.*71G>T | not specified [RCV004690882] | uncertain significance | 1 | 6105403 | 6105403 | Human | | name |
| 405855124 | CV3395722 | single nucleotide variant | NM_015557.3(CHD5):c.79+5G>A | Parenti-mignot neurodevelopmental syndrome [RCV004555985] | uncertain significance | 1 | 6179940 | 6179940 | Human | 1 | name |
| 401935294 | CV2805593 | single nucleotide variant | NM_015557.3(CHD5):c.*47-4G>T | not provided [RCV003412718] | benign | 1 | 6105431 | 6105431 | Human | | name |
| 405854226 | CV3392916 | single nucleotide variant | NM_015557.3(CHD5):c.80-12T>G | not specified [RCV004527073] | likely benign | 1 | 6168289 | 6168289 | Human | | name |
| 598122163 | CV3884237 | single nucleotide variant | NM_015557.3(CHD5):c.994+9C>T | not specified [RCV005236927] | likely benign | 1 | 6151023 | 6151023 | Human | | name |
| 15169919 | CV743766 | single nucleotide variant | NM_015557.3(CHD5):c.995-6C>T | not provided [RCV000905164] | benign | 1 | 6149418 | 6149418 | Human | | name |
| 150535148 | CV1293702 | single nucleotide variant | NM_015557.3(CHD5):c.4171+3G>T | not provided [RCV001757979] | uncertain significance | 1 | 6125763 | 6125763 | Human | | name |
| 150541286 | CV1301310 | single nucleotide variant | NM_015557.3(CHD5):c.4260+5G>T | not provided [RCV001767720] | uncertain significance | 1 | 6125519 | 6125519 | Human | | name |
| 150536145 | CV1312305 | single nucleotide variant | NM_015557.3(CHD5):c.4171+5G>A | Neurodevelopmental disorder [RCV001780067] | likely pathogenic | 1 | 6125761 | 6125761 | Human | 1 | name |
| 151663501 | CV1333995 | single nucleotide variant | NM_015557.3(CHD5):c.2043+4A>T | Harel-Yoon syndrome [RCV001839169]|not provided [RCV004691446] | uncertain significance | 1 | 6143819 | 6143819 | Human | 1 | name |
| 153348437 | CV1692474 | single nucleotide variant | NM_015557.3(CHD5):c.4171+1G>A | Neurodevelopmental delay [RCV002274327] | likely pathogenic | 1 | 6125765 | 6125765 | Human | 1 | name |
| 156451134 | CV2402511 | single nucleotide variant | NM_015557.3(CHD5):c.4260+8C>T | not provided [RCV003123314] | uncertain significance | 1 | 6125516 | 6125516 | Human | | name |
| 401723986 | CV2735665 | single nucleotide variant | NM_015557.3(CHD5):c.4261-9C>G | not provided [RCV003312108] | uncertain significance | 1 | 6125242 | 6125242 | Human | | name |
| 401924664 | CV2805041 | single nucleotide variant | NM_015557.3(CHD5):c.*46+15G>A | not specified [RCV003404860] | uncertain significance | 1 | 6106219 | 6106219 | Human | | name |
| 407426523 | CV3409988 | single nucleotide variant | NM_015557.3(CHD5):c.1590+1G>T | not provided [RCV004585920] | likely pathogenic | 1 | 6146664 | 6146664 | Human | | name |
| 407476083 | CV3494843 | single nucleotide variant | NM_015557.3(CHD5):c.1591-8A>G | not specified [RCV004690744] | uncertain significance | 1 | 6146431 | 6146431 | Human | | name |
| 407573271 | CV3499073 | single nucleotide variant | NM_015557.3(CHD5):c.4261-5C>T | not specified [RCV004700044] | uncertain significance | 1 | 6125238 | 6125238 | Human | | name |
| 408384490 | CV3505239 | single nucleotide variant | NM_015557.3(CHD5):c.4540-6C>T | CHD5-related disorder [RCV004731773] | uncertain significance | 1 | 6124113 | 6124113 | Human | | name , trait , alternate_id |
| 598213593 | CV3940863 | single nucleotide variant | NM_015557.3(CHD5):c.2043+1G>A | Inborn genetic diseases [RCV005316376] | uncertain significance | 1 | 6143822 | 6143822 | Human | 1 | name |
| 15177559 | CV730015 | single nucleotide variant | NM_015557.3(CHD5):c.5003-5G>A | not provided [RCV000884853] | likely benign | 1 | 6112282 | 6112282 | Human | | name |
| 15172829 | CV743755 | single nucleotide variant | NM_015557.3(CHD5):c.1935-3C>T | not provided [RCV000905746] | likely benign | 1 | 6143934 | 6143934 | Human | | name |
| 15132572 | CV778912 | single nucleotide variant | NM_015557.3(CHD5):c.4780-3C>T | not provided [RCV000964798] | benign | 1 | 6121240 | 6121240 | Human | | name |
| 127241190 | CV983476 | single nucleotide variant | NM_015557.3(CHD5):c.4171+1G>C | Global developmental delay [RCV001376666]|Parenti-mignot neurodevelopmental syndrome [RCV002246282] | pathogenic|likely pathogenic | 1 | 6125765 | 6125765 | Human | 4 | name |
| 127241183 | CV983477 | single nucleotide variant | NM_015557.3(CHD5):c.4079-3C>G | Global developmental delay [RCV001376665]|not provided [RCV001760326] | likely pathogenic|uncertain significance | 1 | 6125861 | 6125861 | Human | 2 | name |
| 150465375 | CV1277229 | single nucleotide variant | NM_015557.3(CHD5):c.2437-18T>C | Parenti-mignot neurodevelopmental syndrome [RCV003346653]|not provided [RCV001710523] | benign | 1 | 6136883 | 6136883 | Human | 1 | name |
| 152042564 | CV1670019 | single nucleotide variant | NM_015557.3(CHD5):c.4171+11G>A | not provided [RCV002224921] | uncertain significance | 1 | 6125755 | 6125755 | Human | | name |
| 407573217 | CV3498951 | single nucleotide variant | NM_015557.3(CHD5):c.1590+10C>T | not specified [RCV004699920] | likely benign | 1 | 6146655 | 6146655 | Human | | name |
| 15097823 | CV777137 | single nucleotide variant | NM_015557.3(CHD5):c.2436+10C>T | not provided [RCV000958402] | benign | 1 | 6142118 | 6142118 | Human | | name |
| 15099757 | CV777157 | single nucleotide variant | NM_015557.3(CHD5):c.1803-10C>T | CHD5-related disorder [RCV004751835]|not provided [RCV000958810] | benign|likely benign | 1 | 6144165 | 6144165 | Human | 1 | name , trait , alternate_id |
| 401919247 | CV2794815 | indel | NM_015557.3(CHD5):c.5003-3delinsGA | not specified [RCV003388490] | uncertain significance | 1 | 6112280 | 6112280 | Human | | name |
| 243063805 | CV2405321 | single nucleotide variant | NM_015557.3(CHD5):c.1A>T (p.Met1Leu) | Parenti-mignot neurodevelopmental syndrome [RCV003142400] | uncertain significance | 1 | 6180023 | 6180023 | Human | 1 | name |
| 401935298 | CV2805597 | single nucleotide variant | NM_015557.3(CHD5):c.258G>A (p.Ser86=) | not provided [RCV003412722] | likely benign | 1 | 6159465 | 6159465 | Human | | name |
| 596942396 | CV3542594 | deletion | NM_015557.3(CHD5):c.1161+8_1161+38del | See cases [RCV004798178] | uncertain significance | 1 | 6149208 | 6149238 | Human | | name |
| 155963608 | CV1952214 | single nucleotide variant | NM_015557.3(CHD5):c.37C>T (p.Arg13Trp) | Parenti-mignot neurodevelopmental syndrome [RCV002512492] | uncertain significance | 1 | 6179987 | 6179987 | Human | 1 | name |
| 155910168 | CV2369739 | single nucleotide variant | NM_015557.3(CHD5):c.67G>A (p.Asp23Asn) | Inborn genetic diseases [RCV002991144]|Parenti-mignot neurodevelopmental syndrome [RCV005028400] | uncertain significance | 1 | 6179957 | 6179957 | Human | 2 | name |
| 155992106 | CV2384463 | single nucleotide variant | NM_015557.3(CHD5):c.92G>T (p.Gly31Val) | Inborn genetic diseases [RCV002733397] | uncertain significance | 1 | 6168265 | 6168265 | Human | 1 | name |
| 401858450 | CV2753220 | single nucleotide variant | NM_015557.3(CHD5):c.903C>T (p.Phe301=) | Parenti-mignot neurodevelopmental syndrome [RCV003341578] | benign | 1 | 6151123 | 6151123 | Human | 1 | name |
| 401858778 | CV2753221 | single nucleotide variant | NM_015557.3(CHD5):c.429G>C (p.Leu143=) | Parenti-mignot neurodevelopmental syndrome [RCV003341579] | benign | 1 | 6155676 | 6155676 | Human | 1 | name |
| 401862118 | CV2775156 | single nucleotide variant | NM_015557.3(CHD5):c.56T>C (p.Met19Thr) | Inborn genetic diseases [RCV003343078] | uncertain significance | 1 | 6179968 | 6179968 | Human | 1 | name |
| 405268606 | CV3201033 | single nucleotide variant | NM_015557.3(CHD5):c.645G>A (p.Ala215=) | CHD5-related disorder [RCV003899144] | likely benign | 1 | 6154760 | 6154760 | Human | | name , trait , alternate_id |
| 405661022 | CV3300734 | single nucleotide variant | NM_015557.3(CHD5):c.95G>A (p.Gly32Asp) | Inborn genetic diseases [RCV004439037] | uncertain significance | 1 | 6168262 | 6168262 | Human | 1 | name |
| 405867263 | CV3401243 | single nucleotide variant | NM_015557.3(CHD5):c.55A>G (p.Met19Val) | Parenti-mignot neurodevelopmental syndrome [RCV004577434] | uncertain significance | 1 | 6179969 | 6179969 | Human | 1 | name |
| 597886616 | CV3854982 | single nucleotide variant | NM_015557.3(CHD5):c.62A>G (p.Asn21Ser) | not provided [RCV005199828] | uncertain significance | 1 | 6179962 | 6179962 | Human | | name |
| 617152520 | CV4017946 | single nucleotide variant | NM_015557.3(CHD5):c.390G>A (p.Glu130=) | Parenti-mignot neurodevelopmental syndrome [RCV005417736] | uncertain significance | 1 | 6155715 | 6155715 | Human | 1 | name |
| 15176994 | CV732534 | single nucleotide variant | NM_015557.3(CHD5):c.939C>G (p.Ser313=) | not provided [RCV000906552] | benign|likely benign | 1 | 6151087 | 6151087 | Human | | name |
| 15133946 | CV732535 | single nucleotide variant | NM_015557.3(CHD5):c.864C>T (p.Gly288=) | not provided [RCV000898209] | benign | 1 | 6152418 | 6152418 | Human | | name |
| 15163555 | CV746599 | single nucleotide variant | NM_015557.3(CHD5):c.618G>A (p.Ala206=) | not provided [RCV000926156] | likely benign | 1 | 6154787 | 6154787 | Human | | name |
| 15150214 | CV778834 | duplication | NM_015557.3(CHD5):c.4395-18_4395-17dup | not provided [RCV000967900] | benign | 1 | 6124668 | 6124669 | Human | | name |
| 150466642 | CV1218223 | single nucleotide variant | NM_015557.3(CHD5):c.2493T>C (p.Ile831=) | Parenti-mignot neurodevelopmental syndrome [RCV003346632]|not provided [RCV001614349] | benign | 1 | 6136809 | 6136809 | Human | 1 | name |
| 243050464 | CV2415442 | single nucleotide variant | NM_015557.3(CHD5):c.146A>C (p.Lys49Thr) | Parenti-mignot neurodevelopmental syndrome [RCV003147980] | uncertain significance | 1 | 6168211 | 6168211 | Human | 1 | name |
| 401858801 | CV2753219 | single nucleotide variant | NM_015557.3(CHD5):c.1104A>G (p.Val368=) | Parenti-mignot neurodevelopmental syndrome [RCV003341577] | benign | 1 | 6149303 | 6149303 | Human | 1 | name |
| 401885687 | CV2778240 | single nucleotide variant | NM_015557.3(CHD5):c.283C>A (p.Pro95Thr) | Inborn genetic diseases [RCV003351725] | uncertain significance | 1 | 6159440 | 6159440 | Human | 1 | name |
| 401935296 | CV2805595 | single nucleotide variant | NM_015557.3(CHD5):c.2805C>T (p.Asp935=) | not provided [RCV003412720] | benign | 1 | 6135295 | 6135295 | Human | | name |
| 401935297 | CV2805596 | single nucleotide variant | NM_015557.3(CHD5):c.2043C>T (p.Asp681=) | not provided [RCV003412721] | benign | 1 | 6143823 | 6143823 | Human | | name |
| 405284444 | CV3196797 | single nucleotide variant | NM_015557.3(CHD5):c.1857C>T (p.Tyr619=) | CHD5-related disorder [RCV003979678] | benign | 1 | 6144101 | 6144101 | Human | 4 | name , trait , alternate_id |
| 405289228 | CV3218166 | single nucleotide variant | NM_015557.3(CHD5):c.284C>G (p.Pro95Arg) | CHD5-related disorder [RCV003983568] | uncertain significance | 1 | 6159439 | 6159439 | Human | | name , trait , alternate_id |
| 405655158 | CV3228431 | single nucleotide variant | NM_015557.3(CHD5):c.2169G>C (p.Leu723=) | not specified [RCV003995166] | likely benign | 1 | 6142480 | 6142480 | Human | | name |
| 405872024 | CV3398193 | single nucleotide variant | NM_015557.3(CHD5):c.2481G>A (p.Glu827=) | not provided [RCV004575194] | likely benign | 1 | 6136821 | 6136821 | Human | | name |
| 407450618 | CV3425672 | single nucleotide variant | NM_015557.3(CHD5):c.254A>T (p.Lys85Met) | Inborn genetic diseases [RCV004607743] | uncertain significance | 1 | 6159469 | 6159469 | Human | 1 | name |
| 407450635 | CV3425680 | single nucleotide variant | NM_015557.3(CHD5):c.113A>T (p.Asp38Val) | Inborn genetic diseases [RCV004607751] | uncertain significance | 1 | 6168244 | 6168244 | Human | 1 | name |
| 408377594 | CV3509835 | single nucleotide variant | NM_015557.3(CHD5):c.1653G>A (p.Pro551=) | CHD5-related disorder [RCV004751105]|not provided [RCV005256984] | likely benign | 1 | 6146361 | 6146361 | Human | 1 | name , trait , alternate_id |
| 596920482 | CV3533883 | single nucleotide variant | NM_015557.3(CHD5):c.139C>T (p.Leu47Phe) | Parenti-mignot neurodevelopmental syndrome [RCV004782211] | likely pathogenic | 1 | 6168218 | 6168218 | Human | 1 | name |
| 596921185 | CV3534827 | single nucleotide variant | NM_015557.3(CHD5):c.145A>G (p.Lys49Glu) | not provided [RCV004784385] | uncertain significance | 1 | 6168212 | 6168212 | Human | | name |
| 597657207 | CV3656321 | single nucleotide variant | NM_015557.3(CHD5):c.148A>G (p.Lys50Glu) | Inborn genetic diseases [RCV004976669] | uncertain significance | 1 | 6168209 | 6168209 | Human | 1 | name |
| 598126996 | CV3887991 | single nucleotide variant | NM_015557.3(CHD5):c.2634C>G (p.Pro878=) | not provided [RCV005242677] | likely benign | 1 | 6136579 | 6136579 | Human | | name |
| 598127198 | CV3888065 | single nucleotide variant | NM_015557.3(CHD5):c.1716C>T (p.Asp572=) | not provided [RCV005242751] | likely benign | 1 | 6146298 | 6146298 | Human | | name |
| 15103923 | CV719041 | single nucleotide variant | NM_015557.3(CHD5):c.2832C>T (p.Thr944=) | not provided [RCV000892777] | benign | 1 | 6135268 | 6135268 | Human | | name |
| 15194901 | CV746598 | single nucleotide variant | NM_015557.3(CHD5):c.1299C>G (p.Ala433=) | not provided [RCV000911257] | likely benign | 1 | 6148938 | 6148938 | Human | | name |
| 15101665 | CV746600 | single nucleotide variant | NM_015557.3(CHD5):c.127G>C (p.Glu43Gln) | not provided [RCV000914827] | likely benign | 1 | 6168230 | 6168230 | Human | | name |
| 127241158 | CV983487 | duplication | NM_015557.3(CHD5):c.612dup (p.Ser205fs) | Global developmental delay [RCV001376656]|Parenti-mignot neurodevelopmental syndrome [RCV002246279] | pathogenic|likely pathogenic | 1 | 6154792 | 6154793 | Human | 4 | name |
| 156445040 | CV1949097 | single nucleotide variant | NM_015557.3(CHD5):c.914G>A (p.Ser305Asn) | not provided [RCV003115974] | uncertain significance | 1 | 6151112 | 6151112 | Human | | name |
| 156345824 | CV1970514 | single nucleotide variant | NM_015557.3(CHD5):c.389A>C (p.Glu130Ala) | not provided [RCV002601520] | uncertain significance | 1 | 6155716 | 6155716 | Human | | name |
| 156321945 | CV1978765 | single nucleotide variant | NM_015557.3(CHD5):c.986A>G (p.Lys329Arg) | Inborn genetic diseases [RCV004965967]|not provided [RCV002630405] | uncertain significance | 1 | 6151040 | 6151040 | Human | 1 | name |
| 156136969 | CV2210336 | single nucleotide variant | NM_015557.3(CHD5):c.817G>A (p.Gly273Arg) | Inborn genetic diseases [RCV002696811] | uncertain significance | 1 | 6152465 | 6152465 | Human | 1 | name |
| 155922670 | CV2217457 | single nucleotide variant | NM_015557.3(CHD5):c.809A>C (p.Lys270Thr) | Inborn genetic diseases [RCV002683077] | uncertain significance | 1 | 6152473 | 6152473 | Human | 1 | name |
| 155901951 | CV2237861 | single nucleotide variant | NM_015557.3(CHD5):c.421T>G (p.Trp141Gly) | Inborn genetic diseases [RCV002748851] | uncertain significance | 1 | 6155684 | 6155684 | Human | 1 | name |
| 156049900 | CV2242000 | single nucleotide variant | NM_015557.3(CHD5):c.782A>T (p.Asp261Val) | Inborn genetic diseases [RCV002781960] | uncertain significance | 1 | 6152500 | 6152500 | Human | 1 | name |
| 156287132 | CV2288369 | single nucleotide variant | NM_015557.3(CHD5):c.424G>A (p.Gly142Ser) | Inborn genetic diseases [RCV002878584] | uncertain significance | 1 | 6155681 | 6155681 | Human | 1 | name |
| 156052462 | CV2329026 | single nucleotide variant | NM_015557.3(CHD5):c.644C>T (p.Ala215Val) | Inborn genetic diseases [RCV002950186]|not provided [RCV004691530] | uncertain significance | 1 | 6154761 | 6154761 | Human | 1 | name |
| 156133671 | CV2350389 | single nucleotide variant | NM_015557.3(CHD5):c.692C>T (p.Pro231Leu) | Inborn genetic diseases [RCV003003502] | uncertain significance | 1 | 6154713 | 6154713 | Human | 1 | name |
| 156101685 | CV2352206 | single nucleotide variant | NM_015557.3(CHD5):c.632C>T (p.Ala211Val) | Inborn genetic diseases [RCV002980037] | uncertain significance | 1 | 6154773 | 6154773 | Human | 1 | name |
| 329371309 | CV2431954 | single nucleotide variant | NM_015557.3(CHD5):c.589G>A (p.Ala197Thr) | Inborn genetic diseases [RCV003184496] | uncertain significance | 1 | 6154816 | 6154816 | Human | 1 | name |
| 329368524 | CV2453324 | single nucleotide variant | NM_015557.3(CHD5):c.821T>A (p.Leu274His) | Inborn genetic diseases [RCV003208741] | uncertain significance | 1 | 6152461 | 6152461 | Human | 1 | name |
| 329402140 | CV2453996 | single nucleotide variant | NM_015557.3(CHD5):c.655A>G (p.Thr219Ala) | Inborn genetic diseases [RCV003199061] | uncertain significance | 1 | 6154750 | 6154750 | Human | 1 | name |
| 329954408 | CV2669092 | single nucleotide variant | NM_015557.3(CHD5):c.719G>T (p.Arg240Leu) | See cases [RCV003232925] | uncertain significance | 1 | 6154686 | 6154686 | Human | | name |
| 401759125 | CV2712422 | single nucleotide variant | NM_015557.3(CHD5):c.697G>A (p.Val233Met) | Inborn genetic diseases [RCV003299096] | uncertain significance | 1 | 6154708 | 6154708 | Human | 1 | name |
| 401829224 | CV2743558 | single nucleotide variant | NM_015557.3(CHD5):c.913A>T (p.Ser305Cys) | not provided [RCV003326734] | uncertain significance | 1 | 6151113 | 6151113 | Human | | name |
| 401924662 | CV2805040 | single nucleotide variant | NM_015557.3(CHD5):c.931G>T (p.Val311Leu) | not specified [RCV003404859] | uncertain significance | 1 | 6151095 | 6151095 | Human | | name |
| 405256982 | CV3185329 | single nucleotide variant | NM_015557.3(CHD5):c.452C>T (p.Ser151Leu) | CHD5-related disorder [RCV003931356]|not provided [RCV003885893] | likely benign | 1 | 6155653 | 6155653 | Human | 1 | name , trait , alternate_id |
| 405273399 | CV3191926 | single nucleotide variant | NM_015557.3(CHD5):c.776C>G (p.Ser259Cys) | CHD5-related disorder [RCV003914683]|not provided [RCV005242492] | likely benign | 1 | 6152506 | 6152506 | Human | 1 | name , trait , alternate_id |
| 405289484 | CV3218234 | single nucleotide variant | NM_015557.3(CHD5):c.4620C>T (p.Gly1540=) | CHD5-related disorder [RCV003983636] | uncertain significance | 1 | 6124027 | 6124027 | Human | | name , trait , alternate_id |
| 405660971 | CV3300721 | single nucleotide variant | NM_015557.3(CHD5):c.331G>A (p.Ala111Thr) | Inborn genetic diseases [RCV004439024] | uncertain significance | 1 | 6159392 | 6159392 | Human | 1 | name |
| 405661006 | CV3300730 | single nucleotide variant | NM_015557.3(CHD5):c.5667C>T (p.Ala1889=) | Inborn genetic diseases [RCV004439033] | likely benign | 1 | 6106691 | 6106691 | Human | 1 | name |
| 405661019 | CV3300733 | single nucleotide variant | NM_015557.3(CHD5):c.674C>T (p.Pro225Leu) | Inborn genetic diseases [RCV004439036] | uncertain significance | 1 | 6154731 | 6154731 | Human | 1 | name |
| 407450625 | CV3425676 | single nucleotide variant | NM_015557.3(CHD5):c.752G>A (p.Gly251Glu) | Inborn genetic diseases [RCV004607747] | uncertain significance | 1 | 6152530 | 6152530 | Human | 1 | name |
| 407450642 | CV3425683 | single nucleotide variant | NM_015557.3(CHD5):c.521A>G (p.Lys174Arg) | Inborn genetic diseases [RCV004607754] | uncertain significance | 1 | 6154884 | 6154884 | Human | 1 | name |
| 408377705 | CV3509880 | single nucleotide variant | NM_015557.3(CHD5):c.5031C>A (p.Pro1677=) | CHD5-related disorder [RCV004751108] | likely benign | 1 | 6112249 | 6112249 | Human | | name , trait , alternate_id |
| 408377722 | CV3509972 | single nucleotide variant | NM_015557.3(CHD5):c.4056C>T (p.Asn1352=) | CHD5-related disorder [RCV004751115] | likely benign | 1 | 6126594 | 6126594 | Human | | name , trait , alternate_id |
| 408377730 | CV3510112 | single nucleotide variant | NM_015557.3(CHD5):c.5565C>T (p.Ala1855=) | CHD5-related disorder [RCV004751123] | likely benign | 1 | 6109808 | 6109808 | Human | | name , trait , alternate_id |
| 408377830 | CV3510692 | single nucleotide variant | NM_015557.3(CHD5):c.968G>A (p.Ser323Asn) | CHD5-related disorder [RCV004751155] | uncertain significance | 1 | 6151058 | 6151058 | Human | | name , trait , alternate_id |
| 596926202 | CV3536157 | deletion | NM_015557.3(CHD5):c.1721del (p.Leu574fs) | Parenti-mignot neurodevelopmental syndrome [RCV004788587] | pathogenic | 1 | 6146293 | 6146293 | Human | 1 | name |
| 596947794 | CV3547377 | single nucleotide variant | NM_015557.3(CHD5):c.3225C>T (p.Thr1075=) | not provided [RCV004811681] | likely benign | 1 | 6131668 | 6131668 | Human | | name |
| 597657148 | CV3656308 | single nucleotide variant | NM_015557.3(CHD5):c.698T>G (p.Val233Gly) | Inborn genetic diseases [RCV004976657] | uncertain significance | 1 | 6154707 | 6154707 | Human | 1 | name |
| 597657161 | CV3656310 | single nucleotide variant | NM_015557.3(CHD5):c.559G>A (p.Val187Ile) | Inborn genetic diseases [RCV004976659] | uncertain significance | 1 | 6154846 | 6154846 | Human | 1 | name |
| 597657213 | CV3656322 | single nucleotide variant | NM_015557.3(CHD5):c.944G>T (p.Cys315Phe) | Inborn genetic diseases [RCV004976670] | uncertain significance | 1 | 6151082 | 6151082 | Human | 1 | name |
| 597657241 | CV3656330 | single nucleotide variant | NM_015557.3(CHD5):c.476C>A (p.Thr159Asn) | Inborn genetic diseases [RCV004976676] | uncertain significance | 1 | 6155629 | 6155629 | Human | 1 | name |
| 597928662 | CV3788848 | single nucleotide variant | NM_015557.3(CHD5):c.555G>A (p.Met185Ile) | not provided [RCV005131327] | uncertain significance | 1 | 6154850 | 6154850 | Human | | name |
| 598129784 | CV3887205 | single nucleotide variant | NM_015557.3(CHD5):c.5259C>T (p.Tyr1753=) | not provided [RCV005245265] | likely benign | 1 | 6110517 | 6110517 | Human | | name |
| 598213596 | CV3940864 | single nucleotide variant | NM_015557.3(CHD5):c.3591G>A (p.Thr1197=) | Inborn genetic diseases [RCV005316377] | likely benign | 1 | 6128866 | 6128866 | Human | 1 | name |
| 598213604 | CV3940867 | single nucleotide variant | NM_015557.3(CHD5):c.902T>C (p.Phe301Ser) | Inborn genetic diseases [RCV005316380] | uncertain significance | 1 | 6151124 | 6151124 | Human | 1 | name |
| 598213607 | CV3940868 | single nucleotide variant | NM_015557.3(CHD5):c.5070C>T (p.Asp1690=) | Inborn genetic diseases [RCV005316381] | likely benign | 1 | 6112210 | 6112210 | Human | 1 | name |
| 616937310 | CV4011365 | single nucleotide variant | NM_015557.3(CHD5):c.896C>T (p.Ser299Leu) | Parenti-mignot neurodevelopmental syndrome [RCV005407446] | uncertain significance | 1 | 6151130 | 6151130 | Human | 1 | name |
| 616939730 | CV4014478 | single nucleotide variant | NM_015557.3(CHD5):c.550A>G (p.Met184Val) | not provided [RCV005413972] | uncertain significance | 1 | 6154855 | 6154855 | Human | | name |
| 617152511 | CV4017951 | single nucleotide variant | NM_015557.3(CHD5):c.968G>T (p.Ser323Ile) | Parenti-mignot neurodevelopmental syndrome [RCV005417741] | uncertain significance | 1 | 6151058 | 6151058 | Human | 1 | name |
| 617150181 | CV4019158 | single nucleotide variant | NM_015557.3(CHD5):c.337C>T (p.Arg113Ter) | not provided [RCV005423566] | uncertain significance | 1 | 6159386 | 6159386 | Human | | name |
| 15126374 | CV707483 | single nucleotide variant | NM_015557.3(CHD5):c.5445G>A (p.Thr1815=) | not provided [RCV000963733] | benign | 1 | 6109928 | 6109928 | Human | | name |
| 15164060 | CV732532 | single nucleotide variant | NM_015557.3(CHD5):c.5589G>A (p.Gln1863=) | CHD5-related disorder [RCV004751801]|not provided [RCV000903916] | benign|likely benign | 1 | 6106769 | 6106769 | Human | 1 | name , trait , alternate_id |
| 15169098 | CV746595 | single nucleotide variant | NM_015557.3(CHD5):c.5427C>T (p.Ala1809=) | not provided [RCV000927429] | likely benign | 1 | 6109946 | 6109946 | Human | | name |
| 15123203 | CV746596 | single nucleotide variant | NM_015557.3(CHD5):c.5127C>T (p.Asp1709=) | not provided [RCV000918779] | benign | 1 | 6112153 | 6112153 | Human | | name |
| 15198729 | CV746597 | single nucleotide variant | NM_015557.3(CHD5):c.3945G>A (p.Val1315=) | not provided [RCV000912343] | likely benign | 1 | 6126705 | 6126705 | Human | | name |
| 8625033 | CV80152 | single nucleotide variant | NM_015557.2(CHD5):c.5109C>T (p.Phe1703=) | Malignant melanoma [RCV000060228] | not provided | 1 | 6112171 | 6112171 | Human | | name |
| 8629625 | CV84772 | single nucleotide variant | NM_015557.2(CHD5):c.883G>T (p.Glu295Ter) | Malignant melanoma [RCV000064854] | not provided | 1 | 6151143 | 6151143 | Human | | name |
| 8629626 | CV84773 | single nucleotide variant | NM_015557.2(CHD5):c.882T>A (p.Asp294Glu) | Malignant melanoma [RCV000064855] | not provided | 1 | 6151144 | 6151144 | Human | | name |
| 127241160 | CV983485 | single nucleotide variant | NM_015557.3(CHD5):c.940G>T (p.Glu314Ter) | Parenti-mignot neurodevelopmental syndrome [RCV002246280]|Seizure [RCV001376657]|not provided [RCV004822345] | pathogenic|likely pathogenic | 1 | 6151086 | 6151086 | Human | 3 | name |
| 127241200 | CV983486 | single nucleotide variant | NM_015557.3(CHD5):c.815C>T (p.Ala272Val) | Global developmental delay [RCV001376670]|Global developmental delay [RCV001527602] | uncertain significance | 1 | 6152467 | 6152467 | Human | 2 | name |
| 127241154 | CV983488 | single nucleotide variant | NM_015557.3(CHD5):c.578G>A (p.Arg193Gln) | Global developmental delay [RCV001376655]|Parenti-mignot neurodevelopmental syndrome [RCV002246278]|not provided [RCV002298922] | pathogenic|likely pathogenic|uncertain significance | 1 | 6154827 | 6154827 | Human | 4 | name |
| 127241151 | CV983489 | single nucleotide variant | NM_015557.3(CHD5):c.577C>T (p.Arg193Trp) | Global developmental delay [RCV001376654] | likely pathogenic | 1 | 6154828 | 6154828 | Human | 2 | name |
| 150476304 | CV1203019 | single nucleotide variant | NM_015557.3(CHD5):c.2792G>A (p.Arg931Gln) | not provided [RCV001589613] | likely pathogenic|uncertain significance | 1 | 6135308 | 6135308 | Human | | name |
| 150551961 | CV1300788 | single nucleotide variant | NM_015557.3(CHD5):c.1331A>T (p.Asn444Ile) | not provided [RCV001754648] | uncertain significance | 1 | 6148906 | 6148906 | Human | | name |
| 150554654 | CV1304372 | single nucleotide variant | NM_015557.3(CHD5):c.2918C>T (p.Ser973Phe) | not provided [RCV001771342] | uncertain significance | 1 | 6134812 | 6134812 | Human | | name |
| 151830692 | CV1358873 | single nucleotide variant | NM_015557.3(CHD5):c.2297G>A (p.Arg766His) | not provided [RCV001993688] | uncertain significance | 1 | 6142267 | 6142267 | Human | | name |
| 151851429 | CV1362136 | single nucleotide variant | NM_015557.3(CHD5):c.2404A>T (p.Ile802Phe) | not provided [RCV001978993] | uncertain significance | 1 | 6142160 | 6142160 | Human | | name |
| 151861161 | CV1369283 | single nucleotide variant | NM_015557.3(CHD5):c.2048C>T (p.Thr683Met) | not provided [RCV002034377] | uncertain significance | 1 | 6142601 | 6142601 | Human | | name |
| 151825775 | CV1453058 | single nucleotide variant | NM_015557.3(CHD5):c.2402C>T (p.Ala801Val) | not provided [RCV002050238] | uncertain significance | 1 | 6142162 | 6142162 | Human | | name |
| 151886668 | CV1513951 | single nucleotide variant | NM_015557.3(CHD5):c.2510G>A (p.Gly837Asp) | not provided [RCV001962808] | uncertain significance | 1 | 6136792 | 6136792 | Human | | name |
| 152079144 | CV1666722 | deletion | NM_015557.3(CHD5):c.5725del (p.Asp1909fs) | not provided [RCV002211067] | uncertain significance | 1 | 6106633 | 6106633 | Human | | name |
| 153301154 | CV1689000 | single nucleotide variant | NM_015557.3(CHD5):c.2926G>T (p.Gly976Cys) | CHD5-associated Neurodevelopmental disorder [RCV002266728] | uncertain significance | 1 | 6134804 | 6134804 | Human | | name , trait |
| 153301927 | CV1689366 | single nucleotide variant | NM_015557.3(CHD5):c.2937A>C (p.Gln979His) | not provided [RCV002267316] | uncertain significance | 1 | 6134793 | 6134793 | Human | | name |
| 155266672 | CV1699240 | single nucleotide variant | NM_015557.3(CHD5):c.1618C>T (p.Arg540Cys) | not provided [RCV002283035] | uncertain significance | 1 | 6146396 | 6146396 | Human | | name |
| 155641977 | CV1706114 | single nucleotide variant | NM_015557.3(CHD5):c.1564C>A (p.His522Asn) | not provided [RCV002286976] | uncertain significance | 1 | 6146691 | 6146691 | Human | | name |
| 155645679 | CV1709033 | single nucleotide variant | NM_015557.3(CHD5):c.2541T>G (p.Asp847Glu) | not provided [RCV002291909] | uncertain significance | 1 | 6136761 | 6136761 | Human | | name |
| 155802925 | CV1857852 | single nucleotide variant | NM_015557.3(CHD5):c.1296C>G (p.Asp432Glu) | not provided [RCV002461702] | uncertain significance | 1 | 6148941 | 6148941 | Human | | name |
| 156059310 | CV2060892 | single nucleotide variant | NM_015557.3(CHD5):c.1200C>A (p.Asp400Glu) | not provided [RCV002797042] | uncertain significance | 1 | 6149037 | 6149037 | Human | | name |
| 156084853 | CV2079996 | deletion | NM_015557.3(CHD5):c.3684del (p.Asn1229fs) | not provided [RCV002847508] | pathogenic | 1 | 6128545 | 6128545 | Human | | name |
| 156196722 | CV2157256 | single nucleotide variant | NM_015557.3(CHD5):c.1502A>G (p.Lys501Arg) | not provided [RCV003006184] | uncertain significance | 1 | 6146753 | 6146753 | Human | | name |
| 155924901 | CV2211678 | single nucleotide variant | NM_015557.3(CHD5):c.2267C>T (p.Ala756Val) | Inborn genetic diseases [RCV002683371]|Parenti-mignot neurodevelopmental syndrome [RCV005412488] | uncertain significance | 1 | 6142297 | 6142297 | Human | 2 | name |
| 155977918 | CV2214935 | single nucleotide variant | NM_015557.3(CHD5):c.2077A>G (p.Ile693Val) | Inborn genetic diseases [RCV002688091] | uncertain significance | 1 | 6142572 | 6142572 | Human | 1 | name |
| 156164556 | CV2270277 | single nucleotide variant | NM_015557.3(CHD5):c.2591A>G (p.Asn864Ser) | Inborn genetic diseases [RCV002827600] | uncertain significance | 1 | 6136622 | 6136622 | Human | 1 | name |
| 156074870 | CV2321725 | single nucleotide variant | NM_015557.3(CHD5):c.2068C>T (p.Pro690Ser) | Inborn genetic diseases [RCV002925827] | uncertain significance | 1 | 6142581 | 6142581 | Human | 1 | name |
| 156330538 | CV2339495 | single nucleotide variant | NM_015557.3(CHD5):c.1652C>A (p.Pro551Gln) | Inborn genetic diseases [RCV002964118] | uncertain significance | 1 | 6146362 | 6146362 | Human | 1 | name |
| 156083227 | CV2342974 | single nucleotide variant | NM_015557.3(CHD5):c.1750C>T (p.Arg584Cys) | Inborn genetic diseases [RCV002951925] | uncertain significance | 1 | 6146264 | 6146264 | Human | 1 | name |
| 156188516 | CV2346842 | single nucleotide variant | NM_015557.3(CHD5):c.2062A>G (p.Lys688Glu) | Inborn genetic diseases [RCV002984472] | uncertain significance | 1 | 6142587 | 6142587 | Human | 1 | name |
| 155919653 | CV2360336 | single nucleotide variant | NM_015557.3(CHD5):c.1783C>T (p.His595Tyr) | Inborn genetic diseases [RCV003013110] | uncertain significance | 1 | 6146231 | 6146231 | Human | 1 | name |
| 156176301 | CV2374437 | single nucleotide variant | NM_015557.3(CHD5):c.2021C>T (p.Pro674Leu) | Inborn genetic diseases [RCV002699107] | uncertain significance | 1 | 6143845 | 6143845 | Human | 1 | name |
| 156110087 | CV2387591 | single nucleotide variant | NM_015557.3(CHD5):c.2105C>T (p.Pro702Leu) | Inborn genetic diseases [RCV002739650] | uncertain significance | 1 | 6142544 | 6142544 | Human | 1 | name |
| 243053004 | CV2416251 | single nucleotide variant | NM_015557.3(CHD5):c.1327C>T (p.Leu443Phe) | not provided [RCV003149312] | uncertain significance | 1 | 6148910 | 6148910 | Human | | name |
| 243050573 | CV2417367 | single nucleotide variant | NM_015557.3(CHD5):c.1819G>A (p.Asp607Asn) | not provided [RCV003152239] | uncertain significance | 1 | 6144139 | 6144139 | Human | | name |
| 329391903 | CV2445126 | single nucleotide variant | NM_015557.3(CHD5):c.1466C>T (p.Pro489Leu) | Inborn genetic diseases [RCV003192394] | uncertain significance | 1 | 6146789 | 6146789 | Human | 1 | name |
| 329401817 | CV2457460 | single nucleotide variant | NM_015557.3(CHD5):c.1166A>C (p.Lys389Thr) | Inborn genetic diseases [RCV003198831] | uncertain significance | 1 | 6149071 | 6149071 | Human | 1 | name |
| 329393524 | CV2467062 | single nucleotide variant | NM_015557.3(CHD5):c.2824G>T (p.Ala942Ser) | Inborn genetic diseases [RCV003218328] | uncertain significance | 1 | 6135276 | 6135276 | Human | 1 | name |
| 329398480 | CV2471560 | single nucleotide variant | NM_015557.3(CHD5):c.1240G>A (p.Asp414Asn) | Inborn genetic diseases [RCV003220513] | uncertain significance | 1 | 6148997 | 6148997 | Human | 1 | name |
| 401768702 | CV2735398 | single nucleotide variant | NM_015557.3(CHD5):c.1438C>G (p.Pro480Ala) | Inborn genetic diseases [RCV003302669] | uncertain significance | 1 | 6146817 | 6146817 | Human | 1 | name |
| 401723997 | CV2735666 | single nucleotide variant | NM_015557.3(CHD5):c.2927G>A (p.Gly976Asp) | not provided [RCV003312109] | uncertain significance | 1 | 6134803 | 6134803 | Human | | name |
| 401723193 | CV2737795 | single nucleotide variant | NM_015557.3(CHD5):c.1877T>C (p.Ile626Thr) | not provided [RCV003314967] | uncertain significance | 1 | 6144081 | 6144081 | Human | | name |
| 401797038 | CV2740844 | single nucleotide variant | NM_015557.3(CHD5):c.2247A>C (p.Lys749Asn) | not provided [RCV003322008] | uncertain significance | 1 | 6142317 | 6142317 | Human | | name |
| 401797200 | CV2742017 | single nucleotide variant | NM_015557.3(CHD5):c.1411C>T (p.Arg471Trp) | not specified [RCV003324193] | uncertain significance | 1 | 6146844 | 6146844 | Human | | name |
| 401871293 | CV2749526 | single nucleotide variant | NM_015557.3(CHD5):c.2197G>A (p.Val733Met) | not provided [RCV003332654] | uncertain significance | 1 | 6142452 | 6142452 | Human | | name |
| 401887692 | CV2770091 | single nucleotide variant | NM_015557.3(CHD5):c.2398A>G (p.Asn800Asp) | Inborn genetic diseases [RCV003367292] | uncertain significance | 1 | 6142166 | 6142166 | Human | 1 | name |
| 401873731 | CV2772731 | single nucleotide variant | NM_015557.3(CHD5):c.1759A>G (p.Ile587Val) | Inborn genetic diseases [RCV003362064] | uncertain significance | 1 | 6146255 | 6146255 | Human | 1 | name |
| 401912151 | CV2796069 | single nucleotide variant | NM_015557.3(CHD5):c.1843A>G (p.Lys615Glu) | CHD5-related disorder [RCV003399765] | uncertain significance | 1 | 6144115 | 6144115 | Human | | name , trait , alternate_id |
| 401903310 | CV2799920 | single nucleotide variant | NM_015557.3(CHD5):c.2095A>T (p.Thr699Ser) | CHD5-related disorder [RCV003394423] | uncertain significance | 1 | 6142554 | 6142554 | Human | | name , trait , alternate_id |
| 401936471 | CV2803445 | single nucleotide variant | NM_015557.3(CHD5):c.1018A>T (p.Thr340Ser) | CHD5-related disorder [RCV003414410] | uncertain significance | 1 | 6149389 | 6149389 | Human | | name , trait , alternate_id |
| 401931467 | CV2803572 | single nucleotide variant | NM_015557.3(CHD5):c.2342C>T (p.Thr781Met) | CHD5-related disorder [RCV003391431] | uncertain significance | 1 | 6142222 | 6142222 | Human | | name , trait , alternate_id |
| 401905098 | CV2831386 | single nucleotide variant | NM_015557.3(CHD5):c.2795T>G (p.Leu932Arg) | Parenti-mignot neurodevelopmental syndrome [RCV003444187] | likely pathogenic|uncertain significance | 1 | 6135305 | 6135305 | Human | 1 | name |
| 405173906 | CV2853538 | single nucleotide variant | NM_015557.3(CHD5):c.1207G>C (p.Glu403Gln) | not provided [RCV003542575] | uncertain significance | 1 | 6149030 | 6149030 | Human | | name |
| 405261010 | CV3186015 | single nucleotide variant | NM_015557.3(CHD5):c.2845C>T (p.Arg949Trp) | not provided [RCV003885091] | uncertain significance | 1 | 6135255 | 6135255 | Human | | name |
| 405269537 | CV3201707 | single nucleotide variant | NM_015557.3(CHD5):c.2613G>C (p.Lys871Asn) | CHD5-related disorder [RCV003899614] | uncertain significance | 1 | 6136600 | 6136600 | Human | | name , trait , alternate_id |
| 405285399 | CV3212458 | single nucleotide variant | NM_015557.3(CHD5):c.2038G>T (p.Val680Leu) | CHD5-related disorder [RCV003959053] | likely benign | 1 | 6143828 | 6143828 | Human | | name , trait , alternate_id |
| 405711029 | CV3225731 | single nucleotide variant | NM_015557.3(CHD5):c.2453A>G (p.Lys818Arg) | Parenti-mignot neurodevelopmental syndrome [RCV003990789] | uncertain significance | 1 | 6136849 | 6136849 | Human | 1 | name |
| 405711646 | CV3225883 | single nucleotide variant | NM_015557.3(CHD5):c.2916C>A (p.Asn972Lys) | Parenti-mignot neurodevelopmental syndrome [RCV003990942] | uncertain significance | 1 | 6134814 | 6134814 | Human | 1 | name |
| 405660941 | CV3300712 | single nucleotide variant | NM_015557.3(CHD5):c.1135G>A (p.Glu379Lys) | Inborn genetic diseases [RCV004439015] | uncertain significance | 1 | 6149272 | 6149272 | Human | 1 | name |
| 405660947 | CV3300714 | single nucleotide variant | NM_015557.3(CHD5):c.1307C>T (p.Ser436Phe) | Inborn genetic diseases [RCV004439017] | uncertain significance | 1 | 6148930 | 6148930 | Human | 1 | name |
| 405660951 | CV3300715 | single nucleotide variant | NM_015557.3(CHD5):c.1487G>A (p.Ser496Asn) | Inborn genetic diseases [RCV004439018] | uncertain significance | 1 | 6146768 | 6146768 | Human | 1 | name |
| 405660955 | CV3300716 | single nucleotide variant | NM_015557.3(CHD5):c.1547C>T (p.Ala516Val) | Inborn genetic diseases [RCV004439019] | uncertain significance | 1 | 6146708 | 6146708 | Human | 1 | name |
| 405660958 | CV3300717 | single nucleotide variant | NM_015557.3(CHD5):c.1607C>T (p.Thr536Met) | Inborn genetic diseases [RCV004439020] | uncertain significance | 1 | 6146407 | 6146407 | Human | 1 | name |
| 405660962 | CV3300718 | single nucleotide variant | NM_015557.3(CHD5):c.1809C>G (p.Asp603Glu) | Inborn genetic diseases [RCV004439021] | uncertain significance | 1 | 6144149 | 6144149 | Human | 1 | name |
| 405660965 | CV3300719 | single nucleotide variant | NM_015557.3(CHD5):c.2329G>A (p.Val777Met) | Inborn genetic diseases [RCV004439022] | uncertain significance | 1 | 6142235 | 6142235 | Human | 1 | name |
| 407426298 | CV3409832 | single nucleotide variant | NM_015557.3(CHD5):c.1607C>A (p.Thr536Lys) | not provided [RCV004585764] | uncertain significance | 1 | 6146407 | 6146407 | Human | | name |
| 407450620 | CV3425673 | single nucleotide variant | NM_015557.3(CHD5):c.1172G>T (p.Gly391Val) | Inborn genetic diseases [RCV004607744] | uncertain significance | 1 | 6149065 | 6149065 | Human | 1 | name |
| 407450630 | CV3425678 | single nucleotide variant | NM_015557.3(CHD5):c.1994A>G (p.Lys665Arg) | Inborn genetic diseases [RCV004607749] | uncertain significance | 1 | 6143872 | 6143872 | Human | 1 | name |
| 407450633 | CV3425679 | single nucleotide variant | NM_015557.3(CHD5):c.2414G>T (p.Gly805Val) | Inborn genetic diseases [RCV004607750] | uncertain significance | 1 | 6142150 | 6142150 | Human | 1 | name |
| 408383198 | CV3504933 | single nucleotide variant | NM_015557.3(CHD5):c.1780A>T (p.Ile594Phe) | CHD5-related disorder [RCV004730490] | uncertain significance | 1 | 6146234 | 6146234 | Human | | name , trait , alternate_id |
| 408390217 | CV3519258 | single nucleotide variant | NM_015557.3(CHD5):c.1717C>T (p.Pro573Ser) | not provided [RCV004762567] | uncertain significance | 1 | 6146297 | 6146297 | Human | | name |
| 408394580 | CV3521498 | single nucleotide variant | NM_015557.3(CHD5):c.1732A>T (p.Met578Leu) | Parenti-mignot neurodevelopmental syndrome [RCV004764295] | likely pathogenic|uncertain significance | 1 | 6146282 | 6146282 | Human | 1 | name |
| 408394581 | CV3521499 | single nucleotide variant | NM_015557.3(CHD5):c.1716C>A (p.Asp572Glu) | Parenti-mignot neurodevelopmental syndrome [RCV004764296] | uncertain significance | 1 | 6146298 | 6146298 | Human | 1 | name |
| 408381128 | CV3523770 | single nucleotide variant | NM_015557.3(CHD5):c.2289C>G (p.Asn763Lys) | not provided [RCV004766168] | uncertain significance | 1 | 6142275 | 6142275 | Human | | name |
| 408385767 | CV3528671 | single nucleotide variant | NM_015557.3(CHD5):c.2404A>C (p.Ile802Leu) | not provided [RCV004772504] | uncertain significance | 1 | 6142160 | 6142160 | Human | | name |
| 408386558 | CV3528987 | single nucleotide variant | NM_015557.3(CHD5):c.1820A>T (p.Asp607Val) | not provided [RCV004772820] | uncertain significance | 1 | 6144138 | 6144138 | Human | | name |
| 596925114 | CV3541833 | single nucleotide variant | NM_015557.3(CHD5):c.2552G>A (p.Arg851His) | Parenti-mignot neurodevelopmental syndrome [RCV004795545] | likely pathogenic | 1 | 6136750 | 6136750 | Human | 1 | name |
| 596943123 | CV3542792 | single nucleotide variant | NM_015557.3(CHD5):c.2973G>C (p.Lys991Asn) | not provided [RCV004798376] | uncertain significance | 1 | 6134757 | 6134757 | Human | | name |
| 596945042 | CV3543689 | single nucleotide variant | NM_015557.3(CHD5):c.2349C>G (p.Asp783Glu) | not provided [RCV004801811] | uncertain significance | 1 | 6142215 | 6142215 | Human | | name |
| 596939184 | CV3544519 | single nucleotide variant | NM_015557.3(CHD5):c.2584G>T (p.Val862Phe) | Parenti-mignot neurodevelopmental syndrome [RCV004805148] | uncertain significance | 1 | 6136629 | 6136629 | Human | 1 | name |
| 596946797 | CV3548629 | single nucleotide variant | NM_015557.3(CHD5):c.1711A>G (p.Lys571Glu) | not provided [RCV004810457] | uncertain significance | 1 | 6146303 | 6146303 | Human | | name |
| 597657142 | CV3656307 | single nucleotide variant | NM_015557.3(CHD5):c.1945C>G (p.Leu649Val) | Inborn genetic diseases [RCV004976656] | uncertain significance | 1 | 6143921 | 6143921 | Human | 1 | name |
| 597657156 | CV3656309 | single nucleotide variant | NM_015557.3(CHD5):c.1537G>A (p.Val513Ile) | Inborn genetic diseases [RCV004976658] | uncertain significance | 1 | 6146718 | 6146718 | Human | 1 | name |
| 597657179 | CV3656314 | single nucleotide variant | NM_015557.3(CHD5):c.2266G>A (p.Ala756Thr) | Inborn genetic diseases [RCV004976663] | uncertain significance | 1 | 6142298 | 6142298 | Human | 1 | name |
| 597657185 | CV3656316 | single nucleotide variant | NM_015557.3(CHD5):c.2153G>A (p.Gly718Asp) | Inborn genetic diseases [RCV004976664] | uncertain significance | 1 | 6142496 | 6142496 | Human | 1 | name |
| 597657188 | CV3656317 | single nucleotide variant | NM_015557.3(CHD5):c.2981A>G (p.Asn994Ser) | Inborn genetic diseases [RCV004976665] | uncertain significance | 1 | 6134749 | 6134749 | Human | 1 | name |
| 597657193 | CV3656318 | single nucleotide variant | NM_015557.3(CHD5):c.1973G>A (p.Arg658Lys) | Inborn genetic diseases [RCV004976666] | uncertain significance | 1 | 6143893 | 6143893 | Human | 1 | name |
| 597657215 | CV3656323 | single nucleotide variant | NM_015557.3(CHD5):c.2306A>T (p.Glu769Val) | Inborn genetic diseases [RCV004976671] | uncertain significance | 1 | 6142258 | 6142258 | Human | 1 | name |
| 597657228 | CV3656327 | single nucleotide variant | NM_015557.3(CHD5):c.2246A>G (p.Lys749Arg) | Inborn genetic diseases [RCV004976673] | uncertain significance | 1 | 6142318 | 6142318 | Human | 1 | name |
| 597657232 | CV3656328 | single nucleotide variant | NM_015557.3(CHD5):c.1448C>A (p.Pro483His) | Inborn genetic diseases [RCV004976674] | uncertain significance | 1 | 6146807 | 6146807 | Human | 1 | name |
| 597657249 | CV3656332 | single nucleotide variant | NM_015557.3(CHD5):c.2380G>A (p.Glu794Lys) | Inborn genetic diseases [RCV004976678] | uncertain significance | 1 | 6142184 | 6142184 | Human | 1 | name |
| 597665055 | CV3720779 | single nucleotide variant | NM_015557.3(CHD5):c.2548C>T (p.His850Tyr) | Parenti-mignot neurodevelopmental syndrome [RCV005028941] | uncertain significance | 1 | 6136754 | 6136754 | Human | 1 | name |
| 597720484 | CV3733592 | single nucleotide variant | NM_015557.3(CHD5):c.2270C>T (p.Pro757Leu) | not provided [RCV005052783] | uncertain significance | 1 | 6142294 | 6142294 | Human | | name |
| 597935971 | CV3845343 | single nucleotide variant | NM_015557.3(CHD5):c.2488A>G (p.Thr830Ala) | not provided [RCV005186656] | uncertain significance | 1 | 6136814 | 6136814 | Human | | name |
| 597935053 | CV3863601 | single nucleotide variant | NM_015557.3(CHD5):c.1322A>T (p.His441Leu) | not provided [RCV005207414] | uncertain significance | 1 | 6148915 | 6148915 | Human | | name |
| 597845643 | CV3880475 | single nucleotide variant | NM_015557.3(CHD5):c.1964T>C (p.Leu655Pro) | not provided [RCV005227363] | uncertain significance | 1 | 6143902 | 6143902 | Human | | name |
| 598121829 | CV3883459 | deletion | NM_015557.3(CHD5):c.5556del (p.Ala1853fs) | Neurodevelopmental abnormality [RCV005235834] | likely pathogenic | 1 | 6109817 | 6109817 | Human | 2 | name |
| 598129557 | CV3886973 | single nucleotide variant | NM_015557.3(CHD5):c.1687G>C (p.Gly563Arg) | not provided [RCV005245033] | likely benign | 1 | 6146327 | 6146327 | Human | | name |
| 598129132 | CV3888425 | single nucleotide variant | NM_015557.3(CHD5):c.1295A>T (p.Asp432Val) | not provided [RCV005244599] | uncertain significance | 1 | 6148942 | 6148942 | Human | | name |
| 598122421 | CV3889855 | single nucleotide variant | NM_015557.3(CHD5):c.2204C>T (p.Thr735Ile) | Parenti-mignot neurodevelopmental syndrome [RCV005247959] | uncertain significance | 1 | 6142445 | 6142445 | Human | 1 | name |
| 598200259 | CV3892638 | single nucleotide variant | NM_015557.3(CHD5):c.1693A>G (p.Ser565Gly) | not provided [RCV005254471] | uncertain significance | 1 | 6146321 | 6146321 | Human | | name |
| 598202521 | CV3892822 | single nucleotide variant | NM_015557.3(CHD5):c.2177A>G (p.Glu726Gly) | not provided [RCV005255152] | uncertain significance | 1 | 6142472 | 6142472 | Human | | name |
| 598203238 | CV3892874 | single nucleotide variant | NM_015557.3(CHD5):c.2027A>G (p.Asp676Gly) | not provided [RCV005255204] | uncertain significance | 1 | 6143839 | 6143839 | Human | | name |
| 598159302 | CV3897062 | single nucleotide variant | NM_015557.3(CHD5):c.2344G>A (p.Gly782Arg) | not provided [RCV005368036] | uncertain significance | 1 | 6142220 | 6142220 | Human | | name |
| 598213581 | CV3940859 | single nucleotide variant | NM_015557.3(CHD5):c.1433C>T (p.Thr478Met) | Inborn genetic diseases [RCV005316372] | uncertain significance | 1 | 6146822 | 6146822 | Human | 1 | name |
| 598213583 | CV3940860 | single nucleotide variant | NM_015557.3(CHD5):c.1488C>A (p.Ser496Arg) | Inborn genetic diseases [RCV005316373] | uncertain significance | 1 | 6146767 | 6146767 | Human | 1 | name |
| 598213609 | CV3940869 | single nucleotide variant | NM_015557.3(CHD5):c.1088G>A (p.Arg363Lys) | Inborn genetic diseases [RCV005316382] | uncertain significance | 1 | 6149319 | 6149319 | Human | 1 | name |
| 598213613 | CV3940870 | single nucleotide variant | NM_015557.3(CHD5):c.2865G>A (p.Met955Ile) | Inborn genetic diseases [RCV005316383] | uncertain significance | 1 | 6135235 | 6135235 | Human | 1 | name |
| 616939898 | CV4014385 | single nucleotide variant | NM_015557.3(CHD5):c.2181G>A (p.Met727Ile) | not provided [RCV005413879] | uncertain significance | 1 | 6142468 | 6142468 | Human | | name |
| 617148376 | CV4017049 | deletion | NM_015557.3(CHD5):c.3056del (p.Leu1019fs) | Parenti-mignot neurodevelopmental syndrome [RCV005416196] | pathogenic | 1 | 6134216 | 6134216 | Human | 1 | name |
| 617152521 | CV4017945 | single nucleotide variant | NM_015557.3(CHD5):c.1667A>G (p.Tyr556Cys) | Parenti-mignot neurodevelopmental syndrome [RCV005417735] | uncertain significance | 1 | 6146347 | 6146347 | Human | 1 | name |
| 127241170 | CV983482 | single nucleotide variant | NM_015557.3(CHD5):c.2735C>T (p.Ser912Phe) | Global developmental delay [RCV001376660]|not provided [RCV002293520] | pathogenic|likely pathogenic | 1 | 6135365 | 6135365 | Human | 2 | name |
| 127241166 | CV983483 | single nucleotide variant | NM_015557.3(CHD5):c.1786C>T (p.Arg596Ter) | Global developmental delay [RCV001376659] | likely pathogenic | 1 | 6146228 | 6146228 | Human | 2 | name |
| 127241164 | CV983484 | single nucleotide variant | NM_015557.3(CHD5):c.1279G>A (p.Glu427Lys) | Global developmental delay [RCV001376658] | likely pathogenic | 1 | 6148958 | 6148958 | Human | 2 | name |
| 150555333 | CV1297783 | single nucleotide variant | NM_015557.3(CHD5):c.4852C>T (p.Arg1618Ter) | not provided [RCV001772691] | uncertain significance | 1 | 6121165 | 6121165 | Human | | name |
| 150553286 | CV1298335 | single nucleotide variant | NM_015557.3(CHD5):c.5086G>A (p.Asp1696Asn) | not provided [RCV001768949] | uncertain significance | 1 | 6112194 | 6112194 | Human | | name |
| 150528122 | CV1301650 | single nucleotide variant | NM_015557.3(CHD5):c.3064T>C (p.Ser1022Pro) | not provided [RCV001755022] | uncertain significance | 1 | 6134208 | 6134208 | Human | | name |
| 150547990 | CV1303957 | single nucleotide variant | NM_015557.3(CHD5):c.4280G>A (p.Arg1427Gln) | not provided [RCV001764060] | likely pathogenic|uncertain significance | 1 | 6125214 | 6125214 | Human | | name |
| 150556597 | CV1305506 | single nucleotide variant | NM_015557.3(CHD5):c.5689C>T (p.Arg1897Cys) | not provided [RCV001774495] | uncertain significance | 1 | 6106669 | 6106669 | Human | | name |
| 150548614 | CV1316433 | single nucleotide variant | NM_015557.3(CHD5):c.3517G>T (p.Val1173Leu) | not provided [RCV001786235] | uncertain significance | 1 | 6128940 | 6128940 | Human | | name |
| 151662109 | CV1332877 | single nucleotide variant | NM_015557.3(CHD5):c.4498G>A (p.Val1500Met) | not provided [RCV001837124] | uncertain significance | 1 | 6124558 | 6124558 | Human | | name |
| 151663632 | CV1334098 | single nucleotide variant | NM_015557.3(CHD5):c.5204T>A (p.Ile1735Asn) | CHD5-related Neurodevelopmental disorder [RCV001839272] | uncertain significance | 1 | 6111820 | 6111820 | Human | | name , trait |
| 152980262 | CV1675892 | single nucleotide variant | NM_015557.3(CHD5):c.3953A>G (p.Asp1318Gly) | not provided [RCV002244483] | uncertain significance | 1 | 6126697 | 6126697 | Human | | name |
| 153345773 | CV1691416 | single nucleotide variant | NM_015557.3(CHD5):c.5305A>G (p.Asn1769Asp) | Neurodevelopmental disorder [RCV002272899] | uncertain significance | 1 | 6110471 | 6110471 | Human | 1 | name |
| 153346269 | CV1691624 | single nucleotide variant | NM_015557.3(CHD5):c.3680G>C (p.Gly1227Ala) | Neurodevelopmental disorder [RCV002273107] | uncertain significance | 1 | 6128549 | 6128549 | Human | 1 | name |
| 153349518 | CV1693484 | single nucleotide variant | NM_015557.3(CHD5):c.4303G>A (p.Ala1435Thr) | Inborn genetic diseases [RCV003101565]|not provided [RCV002275926] | uncertain significance | 1 | 6125191 | 6125191 | Human | 1 | name |
| 153349178 | CV1694026 | single nucleotide variant | NM_015557.3(CHD5):c.3779C>T (p.Ala1260Val) | Parenti-mignot neurodevelopmental syndrome [RCV002275570] | uncertain significance | 1 | 6128170 | 6128170 | Human | 1 | name |
| 155714324 | CV1760339 | single nucleotide variant | NM_015557.3(CHD5):c.5308G>C (p.Glu1770Gln) | not provided [RCV002300845] | uncertain significance | 1 | 6110468 | 6110468 | Human | | name |
| 155796736 | CV1862992 | single nucleotide variant | NM_015557.3(CHD5):c.4990G>A (p.Glu1664Lys) | Parenti-mignot neurodevelopmental syndrome [RCV002470266] | uncertain significance | 1 | 6112921 | 6112921 | Human | 1 | name |
| 155800571 | CV1863698 | single nucleotide variant | NM_015557.3(CHD5):c.3358T>C (p.Ser1120Pro) | not provided [RCV002474121] | uncertain significance | 1 | 6130233 | 6130233 | Human | | name |
| 156437138 | CV1936968 | single nucleotide variant | NM_015557.3(CHD5):c.5212C>T (p.Arg1738Trp) | not provided [RCV003106669] | uncertain significance | 1 | 6111812 | 6111812 | Human | | name |
| 156076343 | CV2011807 | single nucleotide variant | NM_015557.3(CHD5):c.3377A>T (p.Asn1126Ile) | not provided [RCV002705842] | uncertain significance | 1 | 6130214 | 6130214 | Human | | name |
| 156359148 | CV2162320 | single nucleotide variant | NM_015557.3(CHD5):c.5830C>T (p.Gln1944Ter) | not provided [RCV003031440] | pathogenic | 1 | 6106422 | 6106422 | Human | | name |
| 156378907 | CV2207836 | single nucleotide variant | NM_015557.3(CHD5):c.4381G>C (p.Glu1461Gln) | Inborn genetic diseases [RCV002678310] | uncertain significance | 1 | 6125113 | 6125113 | Human | 1 | name |
| 155940741 | CV2232228 | single nucleotide variant | NM_015557.3(CHD5):c.4907C>G (p.Pro1636Arg) | Inborn genetic diseases [RCV002751897] | uncertain significance | 1 | 6121110 | 6121110 | Human | 1 | name |
| 155977331 | CV2246828 | single nucleotide variant | NM_015557.3(CHD5):c.5716C>T (p.Arg1906Cys) | Inborn genetic diseases [RCV002777391] | uncertain significance | 1 | 6106642 | 6106642 | Human | 1 | name |
| 156074702 | CV2248193 | single nucleotide variant | NM_015557.3(CHD5):c.3520C>T (p.Arg1174Trp) | Inborn genetic diseases [RCV002783374] | uncertain significance | 1 | 6128937 | 6128937 | Human | 1 | name |
| 156110919 | CV2261680 | single nucleotide variant | NM_015557.3(CHD5):c.5790C>A (p.Asn1930Lys) | Inborn genetic diseases [RCV002799725] | uncertain significance | 1 | 6106462 | 6106462 | Human | 1 | name |
| 156267678 | CV2275568 | single nucleotide variant | NM_015557.3(CHD5):c.5123C>T (p.Ala1708Val) | Inborn genetic diseases [RCV002832116] | uncertain significance | 1 | 6112157 | 6112157 | Human | 1 | name |
| 155919287 | CV2279393 | single nucleotide variant | NM_015557.3(CHD5):c.4513G>C (p.Gly1505Arg) | Inborn genetic diseases [RCV002859431] | uncertain significance | 1 | 6124543 | 6124543 | Human | 1 | name |
| 156058459 | CV2305249 | single nucleotide variant | NM_015557.3(CHD5):c.4579C>T (p.Pro1527Ser) | Inborn genetic diseases [RCV002911635] | uncertain significance | 1 | 6124068 | 6124068 | Human | 1 | name |
| 155909326 | CV2307253 | single nucleotide variant | NM_015557.3(CHD5):c.4657G>A (p.Ala1553Thr) | Inborn genetic diseases [RCV002902318] | uncertain significance | 1 | 6123990 | 6123990 | Human | 1 | name |
| 156094661 | CV2310030 | single nucleotide variant | NM_015557.3(CHD5):c.5744G>C (p.Gly1915Ala) | Inborn genetic diseases [RCV002888241] | uncertain significance | 1 | 6106508 | 6106508 | Human | 1 | name |
| 156396089 | CV2326088 | single nucleotide variant | NM_015557.3(CHD5):c.4009C>T (p.Arg1337Cys) | Inborn genetic diseases [RCV002944811] | uncertain significance | 1 | 6126641 | 6126641 | Human | 1 | name |
| 156069581 | CV2341132 | single nucleotide variant | NM_015557.3(CHD5):c.5080A>G (p.Lys1694Glu) | Inborn genetic diseases [RCV002951162] | uncertain significance | 1 | 6112200 | 6112200 | Human | 1 | name |
| 156187921 | CV2375258 | single nucleotide variant | NM_015557.3(CHD5):c.5807C>T (p.Pro1936Leu) | Inborn genetic diseases [RCV002699775] | uncertain significance | 1 | 6106445 | 6106445 | Human | 1 | name |
| 156041666 | CV2384462 | single nucleotide variant | NM_015557.3(CHD5):c.3613G>A (p.Val1205Met) | Inborn genetic diseases [RCV002704397] | uncertain significance | 1 | 6128844 | 6128844 | Human | 1 | name |
| 155996249 | CV2398511 | single nucleotide variant | NM_015557.3(CHD5):c.4379G>T (p.Ser1460Ile) | Inborn genetic diseases [RCV002778985]|not provided [RCV004697263] | uncertain significance | 1 | 6125115 | 6125115 | Human | 1 | name |
| 156004379 | CV2400979 | single nucleotide variant | NM_015557.3(CHD5):c.4528G>C (p.Val1510Leu) | Inborn genetic diseases [RCV002779670] | uncertain significance | 1 | 6124528 | 6124528 | Human | 1 | name |
| 243051851 | CV2404161 | single nucleotide variant | NM_015557.3(CHD5):c.4279C>T (p.Arg1427Ter) | not provided [RCV003129187] | uncertain significance | 1 | 6125215 | 6125215 | Human | | name |
| 243053298 | CV2418141 | single nucleotide variant | NM_015557.3(CHD5):c.4572C>A (p.Tyr1524Ter) | Parenti-mignot neurodevelopmental syndrome [RCV003153207] | likely pathogenic | 1 | 6124075 | 6124075 | Human | 1 | name |
| 329374597 | CV2443969 | single nucleotide variant | NM_015557.3(CHD5):c.5815A>G (p.Ile1939Val) | Inborn genetic diseases [RCV003185494] | uncertain significance | 1 | 6106437 | 6106437 | Human | 1 | name |
| 329396210 | CV2451961 | single nucleotide variant | NM_015557.3(CHD5):c.4268G>C (p.Gly1423Ala) | Inborn genetic diseases [RCV003194847] | uncertain significance | 1 | 6125226 | 6125226 | Human | 1 | name |
| 329395030 | CV2473007 | single nucleotide variant | NM_015557.3(CHD5):c.5843G>A (p.Gly1948Glu) | not provided [RCV003218990] | uncertain significance | 1 | 6106409 | 6106409 | Human | | name |
| 329953191 | CV2669903 | single nucleotide variant | NM_015557.3(CHD5):c.3587G>A (p.Gly1196Asp) | not provided [RCV003234527] | uncertain significance | 1 | 6128870 | 6128870 | Human | | name |
| 401729144 | CV2690078 | single nucleotide variant | NM_015557.3(CHD5):c.5225A>C (p.Tyr1742Ser) | Inborn genetic diseases [RCV003270843] | uncertain significance | 1 | 6111799 | 6111799 | Human | 1 | name |
| 401782630 | CV2697130 | single nucleotide variant | NM_015557.3(CHD5):c.5704C>T (p.Arg1902Cys) | Inborn genetic diseases [RCV003265852] | uncertain significance | 1 | 6106654 | 6106654 | Human | 1 | name |
| 401720461 | CV2701901 | single nucleotide variant | NM_015557.3(CHD5):c.4433C>T (p.Pro1478Leu) | Inborn genetic diseases [RCV003267217] | uncertain significance | 1 | 6124623 | 6124623 | Human | 1 | name |
| 401762977 | CV2720149 | single nucleotide variant | NM_015557.3(CHD5):c.4735A>G (p.Lys1579Glu) | Inborn genetic diseases [RCV003300396] | uncertain significance | 1 | 6121538 | 6121538 | Human | 1 | name |
| 401723974 | CV2735664 | single nucleotide variant | NM_015557.3(CHD5):c.4285C>T (p.Arg1429Trp) | not provided [RCV003312107] | uncertain significance | 1 | 6125209 | 6125209 | Human | | name |
| 401732859 | CV2736772 | single nucleotide variant | NM_015557.3(CHD5):c.5656C>G (p.Pro1886Ala) | not provided [RCV003313534] | uncertain significance | 1 | 6106702 | 6106702 | Human | | name |
| 401719768 | CV2737133 | single nucleotide variant | NM_015557.3(CHD5):c.5252A>G (p.His1751Arg) | not provided [RCV003314072] | uncertain significance | 1 | 6110524 | 6110524 | Human | | name |
| 401739290 | CV2738524 | single nucleotide variant | NM_015557.3(CHD5):c.4672C>G (p.Leu1558Val) | not specified [RCV003317916] | uncertain significance | 1 | 6123975 | 6123975 | Human | | name |
| 401830421 | CV2748123 | single nucleotide variant | NM_015557.3(CHD5):c.3104A>C (p.Lys1035Thr) | not provided [RCV003329730] | uncertain significance | 1 | 6134168 | 6134168 | Human | | name |
| 401872696 | CV2749676 | single nucleotide variant | NM_015557.3(CHD5):c.4139A>T (p.Asp1380Val) | not provided [RCV003332804] | uncertain significance | 1 | 6125798 | 6125798 | Human | | name |
| 401876027 | CV2750123 | single nucleotide variant | NM_015557.3(CHD5):c.4319G>T (p.Gly1440Val) | Parenti-mignot neurodevelopmental syndrome [RCV003333557] | uncertain significance | 1 | 6125175 | 6125175 | Human | 1 | name |
| 401858454 | CV2753218 | single nucleotide variant | NM_015557.3(CHD5):c.4615T>C (p.Ser1539Pro) | Parenti-mignot neurodevelopmental syndrome [RCV003341576] | benign | 1 | 6124032 | 6124032 | Human | 1 | name |
| 401876203 | CV2777702 | single nucleotide variant | NM_015557.3(CHD5):c.5003A>G (p.Asp1668Gly) | Inborn genetic diseases [RCV003347966] | uncertain significance | 1 | 6112277 | 6112277 | Human | 1 | name |
| 401937741 | CV2796920 | single nucleotide variant | NM_015557.3(CHD5):c.3377A>G (p.Asn1126Ser) | CHD5-related disorder [RCV003416835]|Inborn genetic diseases [RCV004978845] | uncertain significance | 1 | 6130214 | 6130214 | Human | 2 | name , trait , alternate_id |
| 401935295 | CV2805594 | single nucleotide variant | NM_015557.3(CHD5):c.4728G>T (p.Met1576Ile) | Parenti-mignot neurodevelopmental syndrome [RCV003994547]|not provided [RCV003412719] | benign|likely benign | 1 | 6121545 | 6121545 | Human | 1 | name |
| 401916152 | CV2829406 | single nucleotide variant | NM_015557.3(CHD5):c.3089A>G (p.Gln1030Arg) | not provided [RCV003443255] | uncertain significance | 1 | 6134183 | 6134183 | Human | | name |
| 401914940 | CV2830899 | single nucleotide variant | NM_015557.3(CHD5):c.4418G>A (p.Arg1473Gln) | not provided [RCV003442638] | uncertain significance | 1 | 6124638 | 6124638 | Human | | name |
| 401940338 | CV2839190 | single nucleotide variant | NM_015557.3(CHD5):c.4010G>A (p.Arg1337His) | Parenti-mignot neurodevelopmental syndrome [RCV003448748] | uncertain significance | 1 | 6126640 | 6126640 | Human | 1 | name |
| 401946322 | CV2839673 | single nucleotide variant | NM_015557.3(CHD5):c.4640C>T (p.Pro1547Leu) | Parenti-mignot neurodevelopmental syndrome [RCV003458984] | uncertain significance | 1 | 6124007 | 6124007 | Human | 1 | name |
| 401963942 | CV2843405 | single nucleotide variant | NM_015557.3(CHD5):c.4336G>T (p.Ala1446Ser) | not specified [RCV003479747] | uncertain significance | 1 | 6125158 | 6125158 | Human | | name |
| 405000225 | CV2852745 | single nucleotide variant | NM_015557.3(CHD5):c.3988C>T (p.Gln1330Ter) | Parenti-mignot neurodevelopmental syndrome [RCV003493357] | likely pathogenic | 1 | 6126662 | 6126662 | Human | 1 | name |
| 405041864 | CV2862664 | single nucleotide variant | NM_015557.3(CHD5):c.5719G>A (p.Ala1907Thr) | not provided [RCV003579099] | uncertain significance | 1 | 6106639 | 6106639 | Human | | name |
| 405216993 | CV2911273 | single nucleotide variant | NM_015557.3(CHD5):c.3491G>A (p.Arg1164His) | not provided [RCV003567784] | uncertain significance | 1 | 6128966 | 6128966 | Human | | name |
| 405083098 | CV3017107 | single nucleotide variant | NM_015557.3(CHD5):c.4215C>G (p.Asp1405Glu) | not provided [RCV003699190] | uncertain significance | 1 | 6125569 | 6125569 | Human | | name |
| 405185387 | CV3040281 | single nucleotide variant | NM_015557.3(CHD5):c.5765T>A (p.Met1922Lys) | not provided [RCV003705906] | uncertain significance | 1 | 6106487 | 6106487 | Human | | name |
| 405261828 | CV3184864 | single nucleotide variant | NM_015557.3(CHD5):c.3187G>A (p.Glu1063Lys) | Parenti-mignot neurodevelopmental syndrome [RCV003883482] | likely pathogenic | 1 | 6131706 | 6131706 | Human | 1 | name |
| 405267751 | CV3186902 | single nucleotide variant | NM_015557.3(CHD5):c.4757C>T (p.Pro1586Leu) | not provided [RCV003886985] | uncertain significance | 1 | 6121516 | 6121516 | Human | | name |
| 405281548 | CV3224203 | single nucleotide variant | NM_015557.3(CHD5):c.3627G>A (p.Met1209Ile) | not specified [RCV003988585] | uncertain significance | 1 | 6128602 | 6128602 | Human | | name |
| 405699475 | CV3227191 | single nucleotide variant | NM_015557.3(CHD5):c.5047A>C (p.Asn1683His) | Parenti-mignot neurodevelopmental syndrome [RCV003993542] | uncertain significance | 1 | 6112233 | 6112233 | Human | 1 | name |
| 405660979 | CV3300723 | single nucleotide variant | NM_015557.3(CHD5):c.4309A>T (p.Met1437Leu) | Inborn genetic diseases [RCV004439026] | uncertain significance | 1 | 6125185 | 6125185 | Human | 1 | name |
| 405660983 | CV3300724 | single nucleotide variant | NM_015557.3(CHD5):c.4685C>T (p.Pro1562Leu) | Inborn genetic diseases [RCV004439027] | uncertain significance | 1 | 6123962 | 6123962 | Human | 1 | name |
| 405660987 | CV3300725 | single nucleotide variant | NM_015557.3(CHD5):c.4703A>C (p.Lys1568Thr) | Inborn genetic diseases [RCV004439028] | uncertain significance | 1 | 6121570 | 6121570 | Human | 1 | name |
| 405660991 | CV3300726 | single nucleotide variant | NM_015557.3(CHD5):c.4885C>T (p.Pro1629Ser) | Inborn genetic diseases [RCV004439029] | uncertain significance | 1 | 6121132 | 6121132 | Human | 1 | name |
| 405660995 | CV3300727 | single nucleotide variant | NM_015557.3(CHD5):c.4897G>A (p.Glu1633Lys) | Inborn genetic diseases [RCV004439030] | uncertain significance | 1 | 6121120 | 6121120 | Human | 1 | name |
| 405660999 | CV3300728 | single nucleotide variant | NM_015557.3(CHD5):c.5104A>C (p.Lys1702Gln) | Inborn genetic diseases [RCV004439031] | uncertain significance | 1 | 6112176 | 6112176 | Human | 1 | name |
| 405661003 | CV3300729 | single nucleotide variant | NM_015557.3(CHD5):c.5213G>A (p.Arg1738Gln) | Inborn genetic diseases [RCV004439032] | uncertain significance | 1 | 6111811 | 6111811 | Human | 1 | name |
| 405661010 | CV3300731 | single nucleotide variant | NM_015557.3(CHD5):c.5729C>T (p.Pro1910Leu) | Inborn genetic diseases [RCV004439034]|not specified [RCV004801438] | uncertain significance | 1 | 6106629 | 6106629 | Human | 1 | name |
| 405661015 | CV3300732 | single nucleotide variant | NM_015557.3(CHD5):c.5752G>C (p.Gly1918Arg) | Inborn genetic diseases [RCV004439035] | uncertain significance | 1 | 6106500 | 6106500 | Human | 1 | name |
| 405852300 | CV3395893 | single nucleotide variant | NM_015557.3(CHD5):c.4030C>T (p.Arg1344Cys) | Parenti-mignot neurodevelopmental syndrome [RCV004556912] | uncertain significance | 1 | 6126620 | 6126620 | Human | 1 | name |
| 407425143 | CV3411128 | single nucleotide variant | NM_015557.3(CHD5):c.3302G>A (p.Arg1101Gln) | not provided [RCV004588818] | uncertain significance | 1 | 6130289 | 6130289 | Human | | name |
| 407427353 | CV3411865 | single nucleotide variant | NM_015557.3(CHD5):c.5254G>T (p.Gly1752Cys) | not provided [RCV004592036] | uncertain significance | 1 | 6110522 | 6110522 | Human | | name |
| 407429486 | CV3413873 | single nucleotide variant | NM_015557.3(CHD5):c.4189C>T (p.Arg1397Trp) | Parenti-mignot neurodevelopmental syndrome [RCV004595282] | likely benign|uncertain significance | 1 | 6125595 | 6125595 | Human | 1 | name |
| 407457242 | CV3416087 | single nucleotide variant | NM_015557.3(CHD5):c.3277C>T (p.Gln1093Ter) | not provided [RCV004598964] | uncertain significance | 1 | 6130314 | 6130314 | Human | | name |
| 407450613 | CV3425669 | single nucleotide variant | NM_015557.3(CHD5):c.5008A>G (p.Thr1670Ala) | Inborn genetic diseases [RCV004607740] | uncertain significance | 1 | 6112272 | 6112272 | Human | 1 | name |
| 407450615 | CV3425670 | single nucleotide variant | NM_015557.3(CHD5):c.3200A>G (p.Tyr1067Cys) | Inborn genetic diseases [RCV004607741] | uncertain significance | 1 | 6131693 | 6131693 | Human | 1 | name |
| 407450617 | CV3425671 | single nucleotide variant | NM_015557.3(CHD5):c.3974G>T (p.Arg1325Leu) | Inborn genetic diseases [RCV004607742] | uncertain significance | 1 | 6126676 | 6126676 | Human | 1 | name |
| 407450622 | CV3425674 | single nucleotide variant | NM_015557.3(CHD5):c.4888C>A (p.Pro1630Thr) | Inborn genetic diseases [RCV004607745] | uncertain significance | 1 | 6121129 | 6121129 | Human | 1 | name |
| 407450627 | CV3425677 | single nucleotide variant | NM_015557.3(CHD5):c.4945G>A (p.Asp1649Asn) | Inborn genetic diseases [RCV004607748] | uncertain significance | 1 | 6112966 | 6112966 | Human | 1 | name |
| 407450637 | CV3425681 | single nucleotide variant | NM_015557.3(CHD5):c.5245G>A (p.Val1749Met) | Inborn genetic diseases [RCV004607752] | uncertain significance | 1 | 6111779 | 6111779 | Human | 1 | name |
| 407450639 | CV3425682 | single nucleotide variant | NM_015557.3(CHD5):c.4439C>T (p.Ala1480Val) | Inborn genetic diseases [RCV004607753] | uncertain significance | 1 | 6124617 | 6124617 | Human | 1 | name |
| 407476438 | CV3494896 | single nucleotide variant | NM_015557.3(CHD5):c.3395G>A (p.Ser1132Asn) | not specified [RCV004690797] | uncertain significance | 1 | 6129062 | 6129062 | Human | | name |
| 407476849 | CV3494961 | single nucleotide variant | NM_015557.3(CHD5):c.3152A>G (p.Lys1051Arg) | not specified [RCV004690862] | uncertain significance | 1 | 6131741 | 6131741 | Human | | name |
| 408374737 | CV3502495 | single nucleotide variant | NM_015557.3(CHD5):c.4444G>T (p.Gly1482Cys) | not provided [RCV004726082] | uncertain significance | 1 | 6124612 | 6124612 | Human | | name |
| 408384793 | CV3503389 | single nucleotide variant | NM_015557.3(CHD5):c.5542G>C (p.Ala1848Pro) | CHD5-related disorder [RCV004732046] | uncertain significance | 1 | 6109831 | 6109831 | Human | | name , trait , alternate_id |
| 408378717 | CV3514673 | single nucleotide variant | NM_015557.3(CHD5):c.4792G>A (p.Ala1598Thr) | CHD5-related disorder [RCV004752359] | likely benign | 1 | 6121225 | 6121225 | Human | | name , trait , alternate_id |
| 408379160 | CV3517907 | single nucleotide variant | NM_015557.3(CHD5):c.4724A>G (p.Tyr1575Cys) | CHD5-related disorder [RCV004752524] | uncertain significance | 1 | 6121549 | 6121549 | Human | | name , trait , alternate_id |
| 408394355 | CV3521947 | single nucleotide variant | NM_015557.3(CHD5):c.3644C>T (p.Pro1215Leu) | Parenti-mignot neurodevelopmental syndrome [RCV004764746] | uncertain significance | 1 | 6128585 | 6128585 | Human | 1 | name |
| 408391368 | CV3523164 | single nucleotide variant | NM_015557.3(CHD5):c.5608G>A (p.Asp1870Asn) | not provided [RCV004770536] | uncertain significance | 1 | 6106750 | 6106750 | Human | | name |
| 408380986 | CV3523724 | single nucleotide variant | NM_015557.3(CHD5):c.4324C>G (p.Pro1442Ala) | not provided [RCV004766122] | uncertain significance | 1 | 6125170 | 6125170 | Human | | name |
| 408381469 | CV3523881 | single nucleotide variant | NM_015557.3(CHD5):c.5753G>A (p.Gly1918Asp) | not provided [RCV004766279] | uncertain significance | 1 | 6106499 | 6106499 | Human | | name |
| 408383968 | CV3526849 | single nucleotide variant | NM_015557.3(CHD5):c.3470G>T (p.Arg1157Leu) | not provided [RCV004772162] | uncertain significance | 1 | 6128987 | 6128987 | Human | | name |
| 596923443 | CV3530428 | single nucleotide variant | NM_015557.3(CHD5):c.3469C>T (p.Arg1157Cys) | not provided [RCV004777027] | uncertain significance | 1 | 6128988 | 6128988 | Human | | name |
| 596925417 | CV3530470 | single nucleotide variant | NM_015557.3(CHD5):c.3930G>C (p.Lys1310Asn) | not provided [RCV004778055] | uncertain significance | 1 | 6126720 | 6126720 | Human | | name |
| 596929812 | CV3531169 | single nucleotide variant | NM_015557.3(CHD5):c.4433C>A (p.Pro1478Gln) | not provided [RCV004779743] | uncertain significance | 1 | 6124623 | 6124623 | Human | | name |
| 596930278 | CV3532945 | single nucleotide variant | NM_015557.3(CHD5):c.3736A>G (p.Asn1246Asp) | not provided [RCV004780033] | uncertain significance | 1 | 6128213 | 6128213 | Human | | name |
| 596921893 | CV3535521 | single nucleotide variant | NM_015557.3(CHD5):c.4475G>A (p.Arg1492Gln) | Parenti-mignot neurodevelopmental syndrome [RCV004785076] | uncertain significance | 1 | 6124581 | 6124581 | Human | 1 | name |
| 596926225 | CV3536168 | single nucleotide variant | NM_015557.3(CHD5):c.3305C>A (p.Ala1102Glu) | Parenti-mignot neurodevelopmental syndrome [RCV004788598] | likely pathogenic | 1 | 6130286 | 6130286 | Human | 1 | name |
| 596929031 | CV3540729 | single nucleotide variant | NM_015557.3(CHD5):c.4582G>C (p.Asp1528His) | not provided [RCV004795057] | uncertain significance | 1 | 6124065 | 6124065 | Human | | name |
| 596946284 | CV3550549 | single nucleotide variant | NM_015557.3(CHD5):c.4688T>G (p.Leu1563Arg) | not provided [RCV004819087] | uncertain significance | 1 | 6123959 | 6123959 | Human | | name |
| 596939941 | CV3550698 | single nucleotide variant | NM_015557.3(CHD5):c.5024A>T (p.Lys1675Met) | not provided [RCV004814598] | uncertain significance | 1 | 6112256 | 6112256 | Human | | name |
| 597657165 | CV3656311 | single nucleotide variant | NM_015557.3(CHD5):c.4625T>G (p.Val1542Gly) | Inborn genetic diseases [RCV004976660] | uncertain significance | 1 | 6124022 | 6124022 | Human | 1 | name |
| 597657169 | CV3656312 | single nucleotide variant | NM_015557.3(CHD5):c.4618G>A (p.Gly1540Ser) | Inborn genetic diseases [RCV004976661] | uncertain significance | 1 | 6124029 | 6124029 | Human | 1 | name |
| 597657173 | CV3656313 | single nucleotide variant | NM_015557.3(CHD5):c.3247A>G (p.Ile1083Val) | Inborn genetic diseases [RCV004976662] | uncertain significance | 1 | 6131646 | 6131646 | Human | 1 | name |
| 597657197 | CV3656319 | single nucleotide variant | NM_015557.3(CHD5):c.4701C>A (p.Asp1567Glu) | Inborn genetic diseases [RCV004976667] | uncertain significance | 1 | 6121572 | 6121572 | Human | 1 | name |
| 597657201 | CV3656320 | single nucleotide variant | NM_015557.3(CHD5):c.3269G>C (p.Gly1090Ala) | Inborn genetic diseases [RCV004976668] | uncertain significance | 1 | 6130322 | 6130322 | Human | 1 | name |
| 597657221 | CV3656324 | single nucleotide variant | NM_015557.3(CHD5):c.4624G>A (p.Val1542Met) | Inborn genetic diseases [RCV004976672] | uncertain significance | 1 | 6124023 | 6124023 | Human | 1 | name |
| 597657237 | CV3656329 | single nucleotide variant | NM_015557.3(CHD5):c.3952G>A (p.Asp1318Asn) | Inborn genetic diseases [RCV004976675] | uncertain significance | 1 | 6126698 | 6126698 | Human | 1 | name |
| 597657245 | CV3656331 | single nucleotide variant | NM_015557.3(CHD5):c.3655A>G (p.Ile1219Val) | Inborn genetic diseases [RCV004976677] | uncertain significance | 1 | 6128574 | 6128574 | Human | 1 | name |
| 597702309 | CV3732872 | single nucleotide variant | NM_015557.3(CHD5):c.5396C>G (p.Ala1799Gly) | Parenti-mignot neurodevelopmental syndrome [RCV005012279] | uncertain significance | 1 | 6109977 | 6109977 | Human | 1 | name |
| 597834096 | CV3735179 | single nucleotide variant | NM_015557.3(CHD5):c.4247G>C (p.Gly1416Ala) | not provided [RCV005054912] | uncertain significance | 1 | 6125537 | 6125537 | Human | | name |
| 597952201 | CV3765585 | single nucleotide variant | NM_015557.3(CHD5):c.4897G>C (p.Glu1633Gln) | not provided [RCV005121229] | uncertain significance | 1 | 6121120 | 6121120 | Human | | name |
| 598126662 | CV3882117 | single nucleotide variant | NM_015557.3(CHD5):c.3925A>G (p.Ile1309Val) | not provided [RCV005233668] | uncertain significance | 1 | 6126725 | 6126725 | Human | | name |
| 598123048 | CV3884677 | single nucleotide variant | NM_015557.3(CHD5):c.4853G>A (p.Arg1618Gln) | not specified [RCV005238283] | uncertain significance | 1 | 6121164 | 6121164 | Human | | name |
| 598125698 | CV3885907 | single nucleotide variant | NM_015557.3(CHD5):c.3866A>G (p.Lys1289Arg) | not provided [RCV005241710] | uncertain significance | 1 | 6128083 | 6128083 | Human | | name |
| 598129638 | CV3887056 | single nucleotide variant | NM_015557.3(CHD5):c.3650C>T (p.Thr1217Ile) | not provided [RCV005245116] | uncertain significance | 1 | 6128579 | 6128579 | Human | | name |
| 598217135 | CV3891319 | single nucleotide variant | NM_015557.3(CHD5):c.5801C>T (p.Pro1934Leu) | Parenti-mignot neurodevelopmental syndrome [RCV005252161] | uncertain significance | 1 | 6106451 | 6106451 | Human | 1 | name |
| 598221299 | CV3891916 | single nucleotide variant | NM_015557.3(CHD5):c.4225C>T (p.Pro1409Ser) | Parenti-mignot neurodevelopmental syndrome [RCV005253254] | uncertain significance | 1 | 6125559 | 6125559 | Human | 1 | name |
| 598225696 | CV3894287 | single nucleotide variant | NM_015557.3(CHD5):c.5690G>C (p.Arg1897Pro) | not provided [RCV005257530] | uncertain significance | 1 | 6106668 | 6106668 | Human | | name |
| 598159178 | CV3897037 | single nucleotide variant | NM_015557.3(CHD5):c.5692A>G (p.Ser1898Gly) | not provided [RCV005368011] | uncertain significance | 1 | 6106666 | 6106666 | Human | | name |
| 598213587 | CV3940861 | single nucleotide variant | NM_015557.3(CHD5):c.5033T>C (p.Ile1678Thr) | Inborn genetic diseases [RCV005316374] | uncertain significance | 1 | 6112247 | 6112247 | Human | 1 | name |
| 598213590 | CV3940862 | single nucleotide variant | NM_015557.3(CHD5):c.3370C>T (p.Pro1124Ser) | Inborn genetic diseases [RCV005316375] | likely pathogenic | 1 | 6130221 | 6130221 | Human | 1 | name |
| 598213598 | CV3940865 | single nucleotide variant | NM_015557.3(CHD5):c.5722G>A (p.Gly1908Arg) | Inborn genetic diseases [RCV005316378] | uncertain significance | 1 | 6106636 | 6106636 | Human | 1 | name |
| 598213601 | CV3940866 | single nucleotide variant | NM_015557.3(CHD5):c.4803A>C (p.Arg1601Ser) | Inborn genetic diseases [RCV005316379] | uncertain significance | 1 | 6121214 | 6121214 | Human | 1 | name |
| 598213616 | CV3940871 | single nucleotide variant | NM_015557.3(CHD5):c.3905A>T (p.Glu1302Val) | Inborn genetic diseases [RCV005316384] | uncertain significance | 1 | 6126745 | 6126745 | Human | 1 | name |
| 598213618 | CV3940872 | single nucleotide variant | NM_015557.3(CHD5):c.4311G>T (p.Met1437Ile) | Inborn genetic diseases [RCV005316385] | uncertain significance | 1 | 6125183 | 6125183 | Human | 1 | name |
| 598213626 | CV3940874 | single nucleotide variant | NM_015557.3(CHD5):c.5792T>G (p.Phe1931Cys) | Inborn genetic diseases [RCV005316387] | uncertain significance | 1 | 6106460 | 6106460 | Human | 1 | name |
| 616935002 | CV4009229 | single nucleotide variant | NM_015557.3(CHD5):c.5575A>G (p.Lys1859Glu) | not provided [RCV005402401] | uncertain significance | 1 | 6109798 | 6109798 | Human | | name |
| 616935141 | CV4009341 | single nucleotide variant | NM_015557.3(CHD5):c.3308G>A (p.Gly1103Asp) | not provided [RCV005402513] | uncertain significance | 1 | 6130283 | 6130283 | Human | | name |
| 616935296 | CV4009436 | single nucleotide variant | NM_015557.3(CHD5):c.5829C>G (p.Asn1943Lys) | not provided [RCV005402608] | uncertain significance | 1 | 6106423 | 6106423 | Human | | name |
| 616935413 | CV4009512 | single nucleotide variant | NM_015557.3(CHD5):c.5615A>C (p.Lys1872Thr) | not provided [RCV005402684] | uncertain significance | 1 | 6106743 | 6106743 | Human | | name |
| 616934062 | CV4012040 | single nucleotide variant | NM_015557.3(CHD5):c.5291G>T (p.Arg1764Leu) | not specified [RCV005408591] | uncertain significance | 1 | 6110485 | 6110485 | Human | | name |
| 616939285 | CV4015616 | single nucleotide variant | NM_015557.3(CHD5):c.4483C>A (p.Leu1495Ile) | not provided [RCV005413128] | uncertain significance | 1 | 6124573 | 6124573 | Human | | name |
| 616936678 | CV4016440 | single nucleotide variant | NM_015557.3(CHD5):c.3051C>G (p.Ser1017Arg) | not provided [RCV005415306] | uncertain significance | 1 | 6134221 | 6134221 | Human | | name |
| 617152518 | CV4017947 | single nucleotide variant | NM_015557.3(CHD5):c.4093C>T (p.Leu1365Phe) | Parenti-mignot neurodevelopmental syndrome [RCV005417737] | uncertain significance | 1 | 6125844 | 6125844 | Human | 1 | name |
| 617152516 | CV4017948 | single nucleotide variant | NM_015557.3(CHD5):c.5192A>G (p.Lys1731Arg) | Parenti-mignot neurodevelopmental syndrome [RCV005417738] | uncertain significance | 1 | 6111832 | 6111832 | Human | 1 | name |
| 617152514 | CV4017949 | single nucleotide variant | NM_015557.3(CHD5):c.5612T>C (p.Met1871Thr) | Parenti-mignot neurodevelopmental syndrome [RCV005417739] | uncertain significance | 1 | 6106746 | 6106746 | Human | 1 | name |
| 617152513 | CV4017950 | single nucleotide variant | NM_015557.3(CHD5):c.5705G>T (p.Arg1902Leu) | Parenti-mignot neurodevelopmental syndrome [RCV005417740] | uncertain significance | 1 | 6106653 | 6106653 | Human | 1 | name |
| 617152264 | CV4018346 | single nucleotide variant | NM_015557.3(CHD5):c.4312C>T (p.Arg1438Cys) | not specified [RCV005418606] | uncertain significance | 1 | 6125182 | 6125182 | Human | | name |
| 617150454 | CV4018986 | single nucleotide variant | NM_015557.3(CHD5):c.5288C>T (p.Pro1763Leu) | not provided [RCV005423394] | uncertain significance | 1 | 6110488 | 6110488 | Human | | name |
| 15162102 | CV732533 | single nucleotide variant | NM_015557.3(CHD5):c.4862G>A (p.Arg1621Gln) | CHD5-related disorder [RCV004751800]|not provided [RCV000903484] | benign|likely benign | 1 | 6121155 | 6121155 | Human | 1 | name , trait , alternate_id |
| 8629624 | CV84771 | single nucleotide variant | NM_015557.2(CHD5):c.5278C>T (p.Gln1760Ter) | Malignant melanoma [RCV000064853] | not provided | 1 | 6110498 | 6110498 | Human | | name |
| 40815472 | CV970698 | single nucleotide variant | NM_015557.3(CHD5):c.5249C>T (p.Thr1750Met) | CHD5-related disorder [RCV004731112]|Neurodevelopmental disorder [RCV001262899] | likely benign|uncertain significance | 1 | 6111775 | 6111775 | Human | 2 | name , trait , alternate_id |
| 127241197 | CV983473 | single nucleotide variant | NM_015557.3(CHD5):c.5141A>G (p.Glu1714Gly) | Global developmental delay [RCV001376669] | likely pathogenic | 1 | 6111883 | 6111883 | Human | 2 | name |
| 127241195 | CV983474 | single nucleotide variant | NM_015557.3(CHD5):c.4463A>T (p.Asp1488Val) | Global developmental delay [RCV001376668] | likely pathogenic | 1 | 6124593 | 6124593 | Human | 2 | name |
| 127241192 | CV983475 | single nucleotide variant | NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met) | Global developmental delay [RCV001376667]|not provided [RCV001824945] | likely pathogenic|not provided | 1 | 6125527 | 6125527 | Human | 2 | name |
| 127241181 | CV983478 | single nucleotide variant | NM_015557.3(CHD5):c.3419A>T (p.Asn1140Ile) | Parenti-mignot neurodevelopmental syndrome [RCV002246281]|Seizure [RCV001376664] | pathogenic|likely pathogenic | 1 | 6129038 | 6129038 | Human | 3 | name |
| 127241178 | CV983479 | single nucleotide variant | NM_015557.3(CHD5):c.3407G>A (p.Arg1136His) | Global developmental delay [RCV001376663] | likely pathogenic | 1 | 6129050 | 6129050 | Human | 2 | name |
| 127241176 | CV983480 | single nucleotide variant | NM_015557.3(CHD5):c.3371C>T (p.Pro1124Leu) | Global developmental delay [RCV001376662]|not provided [RCV003225174] | pathogenic|likely pathogenic | 1 | 6130220 | 6130220 | Human | 2 | name |
| 127241172 | CV983481 | single nucleotide variant | NM_015557.3(CHD5):c.3250G>A (p.Asp1084Asn) | CHD5-related disorder [RCV004751954]|Seizure [RCV001376661] | likely pathogenic|uncertain significance | 1 | 6131643 | 6131643 | Human | 3 | name , trait , alternate_id |
| 408388750 | CV3522762 | microsatellite | NM_015557.3(CHD5):c.1304CCT[2] (p.Ser437del) | not provided [RCV004769143] | uncertain significance | 1 | 6148925 | 6148927 | Human | | name |
| 401866695 | CV2472825 | deletion | NM_015557.3(CHD5):c.1490_1496del (p.Leu497fs) | not provided [RCV003331522] | likely pathogenic | 1 | 6146759 | 6146765 | Human | | name |
| 408383051 | CV3504624 | deletion | NM_015557.3(CHD5):c.2398_2400del (p.Asn800del) | CHD5-related disorder [RCV004730376] | uncertain significance | 1 | 6142164 | 6142166 | Human | | name , trait , alternate_id |
| 156370266 | CV1920127 | insertion | NM_015557.3(CHD5):c.1370_1371insAG (p.Cys457Ter) | not provided [RCV002603116] | pathogenic | 1 | 6148866 | 6148867 | Human | | name |
| 407427579 | CV3410743 | indel | NM_015557.3(CHD5):c.5596_5597delinsTT (p.Glu1866Leu) | Parenti-mignot neurodevelopmental syndrome [RCV004586390] | likely pathogenic | 1 | 6106761 | 6106762 | Human | | name |
| 596928117 | CV3532813 | deletion | NM_015557.3(CHD5):c.2671_2676del (p.Asn891_Phe892del) | not provided [RCV004778911] | uncertain significance | 1 | 6136537 | 6136542 | Human | | name |
| 617154123 | CV4022286 | duplication | NM_015557.3(CHD5):c.636_641dup (p.Ala214_Ala215insValAla) | not provided [RCV005429642] | uncertain significance | 1 | 6154763 | 6154764 | Human | | name |
| 408378757 | CV3515994 | duplication | NM_015557.3(CHD5):c.5720_5722dup (p.Ala1907_Gly1908insAla) | CHD5-related disorder [RCV004752423] | uncertain significance | 1 | 6106635 | 6106636 | Human | | name , trait , alternate_id |
