| 156002366 | CV2288012 | single nucleotide variant | NM_018928.3(PCDHGC4):c.56T>A (p.Phe19Tyr) | Inborn genetic diseases [RCV002865473] | uncertain significance | 5 | 141485229 | 141485229 | Human | 1 | name |
| 155982890 | CV2371186 | single nucleotide variant | NM_018928.3(PCDHGC4):c.74G>C (p.Gly25Ala) | Inborn genetic diseases [RCV002688535] | uncertain significance | 5 | 141485247 | 141485247 | Human | 1 | name |
| 329385032 | CV2435239 | single nucleotide variant | NM_018928.3(PCDHGC4):c.69C>A (p.His23Gln) | Inborn genetic diseases [RCV003189227] | uncertain significance | 5 | 141485242 | 141485242 | Human | 1 | name |
| 598127830 | CV3888340 | single nucleotide variant | NM_018928.3(PCDHGC4):c.318G>A (p.Leu106=) | not provided [RCV005243026] | likely benign | 5 | 141485491 | 141485491 | Human | | name |
| 616939487 | CV4013979 | single nucleotide variant | NM_018928.3(PCDHGC4):c.44C>T (p.Ala15Val) | not provided [RCV005413471] | likely benign | 5 | 141485217 | 141485217 | Human | | name |
| 8689394 | CV97482 | single nucleotide variant | NM_018928.3(PCDHGC4):c.462G>A (p.Leu154=) | not provided [RCV000122561] | uncertain significance | 5 | 141485635 | 141485635 | Human | | name |
| 152982146 | CV1679133 | single nucleotide variant | NM_018928.3(PCDHGC4):c.118C>T (p.Gln40Ter) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248461] | pathogenic | 5 | 141485291 | 141485291 | Human | 1 | name |
| 152982149 | CV1679135 | deletion | NM_018928.3(PCDHGC4):c.324del (p.Phe108fs) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248463] | pathogenic | 5 | 141485495 | 141485495 | Human | 1 | name |
| 156287591 | CV2301255 | single nucleotide variant | NM_018928.3(PCDHGC4):c.268A>C (p.Ile90Leu) | Inborn genetic diseases [RCV002896933] | uncertain significance | 5 | 141485441 | 141485441 | Human | 1 | name |
| 155958863 | CV2390432 | single nucleotide variant | NM_018928.3(PCDHGC4):c.118C>A (p.Gln40Lys) | Inborn genetic diseases [RCV002753807] | uncertain significance | 5 | 141485291 | 141485291 | Human | 1 | name |
| 329377949 | CV2458990 | single nucleotide variant | NM_018928.3(PCDHGC4):c.163G>A (p.Asp55Asn) | Inborn genetic diseases [RCV003212014] | uncertain significance | 5 | 141485336 | 141485336 | Human | 1 | name |
| 401747318 | CV2698839 | single nucleotide variant | NM_018928.3(PCDHGC4):c.191T>C (p.Leu64Pro) | Inborn genetic diseases [RCV003242204] | uncertain significance | 5 | 141485364 | 141485364 | Human | 1 | name |
| 405870302 | CV3401558 | deletion | NM_018928.3(PCDHGC4):c.549del (p.Lys184fs) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV004578015] | pathogenic | 5 | 141485722 | 141485722 | Human | 1 | name |
| 597704235 | CV3571669 | single nucleotide variant | NM_018928.3(PCDHGC4):c.181G>C (p.Ala61Pro) | Inborn genetic diseases [RCV004957061] | uncertain significance | 5 | 141485354 | 141485354 | Human | 1 | name |
| 598224803 | CV3894167 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2406A>G (p.Pro802=) | not provided [RCV005257410] | likely benign | 5 | 141487579 | 141487579 | Human | | name |
| 616939488 | CV4013980 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2412C>T (p.Cys804=) | not provided [RCV005413472] | likely benign | 5 | 141487585 | 141487585 | Human | | name |
| 156161809 | CV2246451 | single nucleotide variant | NM_018928.3(PCDHGC4):c.649G>A (p.Gly217Arg) | Inborn genetic diseases [RCV002787534] | uncertain significance | 5 | 141485822 | 141485822 | Human | 1 | name |
| 155987415 | CV2248084 | single nucleotide variant | NM_018928.3(PCDHGC4):c.389C>T (p.Ala130Val) | Inborn genetic diseases [RCV002778258] | uncertain significance | 5 | 141485562 | 141485562 | Human | 1 | name |
| 156238843 | CV2285918 | single nucleotide variant | NM_018928.3(PCDHGC4):c.619G>T (p.Asp207Tyr) | Inborn genetic diseases [RCV002854115] | uncertain significance | 5 | 141485792 | 141485792 | Human | 1 | name |
| 156395367 | CV2329154 | single nucleotide variant | NM_018928.3(PCDHGC4):c.366G>C (p.Glu122Asp) | Inborn genetic diseases [RCV002944525] | uncertain significance | 5 | 141485539 | 141485539 | Human | 1 | name |
| 329402407 | CV2454251 | single nucleotide variant | NM_018928.3(PCDHGC4):c.334G>A (p.Gly112Ser) | Inborn genetic diseases [RCV003199316] | uncertain significance | 5 | 141485507 | 141485507 | Human | 1 | name |
| 329380607 | CV2464246 | single nucleotide variant | NM_018928.3(PCDHGC4):c.682C>T (p.Leu228Phe) | Inborn genetic diseases [RCV003212821] | uncertain significance | 5 | 141485855 | 141485855 | Human | 1 | name |
| 401736665 | CV2689399 | single nucleotide variant | NM_018928.3(PCDHGC4):c.890C>T (p.Pro297Leu) | Inborn genetic diseases [RCV003291368] | uncertain significance | 5 | 141486063 | 141486063 | Human | 1 | name |
| 401758968 | CV2705293 | single nucleotide variant | NM_018928.3(PCDHGC4):c.412C>G (p.Leu138Val) | Inborn genetic diseases [RCV003256689] | uncertain significance | 5 | 141485585 | 141485585 | Human | 1 | name |
| 401878241 | CV2774055 | single nucleotide variant | NM_018928.3(PCDHGC4):c.886C>T (p.His296Tyr) | Inborn genetic diseases [RCV003363824] | uncertain significance | 5 | 141486059 | 141486059 | Human | 1 | name |
| 405760509 | CV3364540 | single nucleotide variant | NM_018928.3(PCDHGC4):c.692C>T (p.Ser231Phe) | Inborn genetic diseases [RCV004500555] | uncertain significance | 5 | 141485865 | 141485865 | Human | 1 | name |
| 405760516 | CV3364541 | single nucleotide variant | NM_018928.3(PCDHGC4):c.916G>T (p.Gly306Trp) | Inborn genetic diseases [RCV004500556] | uncertain significance | 5 | 141486089 | 141486089 | Human | 1 | name |
| 407483682 | CV3459867 | single nucleotide variant | NM_018928.3(PCDHGC4):c.919C>A (p.Pro307Thr) | Inborn genetic diseases [RCV004653315] | uncertain significance | 5 | 141486092 | 141486092 | Human | 1 | name |
| 597704139 | CV3571659 | single nucleotide variant | NM_018928.3(PCDHGC4):c.829G>A (p.Val277Ile) | Inborn genetic diseases [RCV004957052] | uncertain significance | 5 | 141486002 | 141486002 | Human | 1 | name |
| 597704149 | CV3571660 | single nucleotide variant | NM_018928.3(PCDHGC4):c.566G>A (p.Ser189Asn) | Inborn genetic diseases [RCV004957053] | uncertain significance | 5 | 141485739 | 141485739 | Human | 1 | name |
| 597704212 | CV3571666 | single nucleotide variant | NM_018928.3(PCDHGC4):c.643G>T (p.Val215Phe) | Inborn genetic diseases [RCV004957059] | uncertain significance | 5 | 141485816 | 141485816 | Human | 1 | name |
| 598271226 | CV3996436 | single nucleotide variant | NM_018928.3(PCDHGC4):c.595C>T (p.Pro199Ser) | Inborn genetic diseases [RCV005389126] | uncertain significance | 5 | 141485768 | 141485768 | Human | 1 | name |
| 598271229 | CV3996437 | single nucleotide variant | NM_018928.3(PCDHGC4):c.815G>T (p.Gly272Val) | Inborn genetic diseases [RCV005389127] | uncertain significance | 5 | 141485988 | 141485988 | Human | 1 | name |
| 598271237 | CV3996439 | single nucleotide variant | NM_018928.3(PCDHGC4):c.852T>G (p.His284Gln) | Inborn genetic diseases [RCV005389129] | uncertain significance | 5 | 141486025 | 141486025 | Human | 1 | name |
| 598271242 | CV3996440 | single nucleotide variant | NM_018928.3(PCDHGC4):c.611A>G (p.Lys204Arg) | Inborn genetic diseases [RCV005389130] | uncertain significance | 5 | 141485784 | 141485784 | Human | 1 | name |
| 152982145 | CV1679132 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1449C>G (p.Asp483Glu) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248460] | pathogenic | 5 | 141486622 | 141486622 | Human | 1 | name |
| 152982147 | CV1679134 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1463C>T (p.Ala488Val) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248462]|not provided [RCV003989138] | pathogenic|likely pathogenic | 5 | 141486636 | 141486636 | Human | 1 | name |
| 152982150 | CV1679136 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1243C>T (p.Arg415Ter) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248464] | pathogenic | 5 | 141486416 | 141486416 | Human | 1 | name |
| 153000423 | CV1685559 | duplication | NM_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002259562] | likely pathogenic | 5 | 141487311 | 141487312 | Human | 1 | name |
| 156379304 | CV2207936 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1189C>A (p.Leu397Ile) | Inborn genetic diseases [RCV002678388] | uncertain significance | 5 | 141486362 | 141486362 | Human | 1 | name |
| 155920281 | CV2255026 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1289C>T (p.Ala430Val) | Inborn genetic diseases [RCV002772906] | uncertain significance | 5 | 141486462 | 141486462 | Human | 1 | name |
| 155918551 | CV2279249 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2092G>A (p.Val698Met) | Inborn genetic diseases [RCV002859331] | uncertain significance | 5 | 141487265 | 141487265 | Human | 1 | name |
| 156207553 | CV2298050 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1129C>T (p.Pro377Ser) | Inborn genetic diseases [RCV002875241] | uncertain significance | 5 | 141486302 | 141486302 | Human | 1 | name |
| 155972524 | CV2309418 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2375G>T (p.Ser792Ile) | Inborn genetic diseases [RCV002907058] | uncertain significance | 5 | 141487548 | 141487548 | Human | 1 | name |
| 155916043 | CV2366572 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1405C>T (p.Arg469Cys) | Inborn genetic diseases [RCV003012605] | uncertain significance | 5 | 141486578 | 141486578 | Human | 1 | name |
| 155937922 | CV2373894 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2266T>A (p.Ser756Thr) | Inborn genetic diseases [RCV002729753] | uncertain significance | 5 | 141487439 | 141487439 | Human | 1 | name |
| 156189043 | CV2375470 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2389G>A (p.Gly797Arg) | Inborn genetic diseases [RCV002699836] | uncertain significance | 5 | 141487562 | 141487562 | Human | 1 | name |
| 156063070 | CV2389332 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1254A>T (p.Lys418Asn) | Inborn genetic diseases [RCV002760039] | uncertain significance | 5 | 141486427 | 141486427 | Human | 1 | name |
| 156159557 | CV2398122 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2367G>T (p.Lys789Asn) | Inborn genetic diseases [RCV002764626] | uncertain significance | 5 | 141487540 | 141487540 | Human | 1 | name |
| 329397944 | CV2466469 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2125G>A (p.Val709Met) | Inborn genetic diseases [RCV003195812] | uncertain significance | 5 | 141487298 | 141487298 | Human | 1 | name |
| 401762554 | CV2696164 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1706G>A (p.Arg569Gln) | Inborn genetic diseases [RCV003281239] | uncertain significance | 5 | 141486879 | 141486879 | Human | 1 | name |
| 401726069 | CV2699064 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1091A>C (p.Glu364Ala) | Inborn genetic diseases [RCV003246193] | uncertain significance | 5 | 141486264 | 141486264 | Human | 1 | name |
| 401898017 | CV2770022 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1433C>A (p.Ala478Glu) | Inborn genetic diseases [RCV003376172] | uncertain significance | 5 | 141486606 | 141486606 | Human | 1 | name |
| 401863892 | CV2770892 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2443C>A (p.Gln815Lys) | Inborn genetic diseases [RCV003359175] | uncertain significance | 5 | 141494807 | 141494807 | Human | 1 | name |
| 401915207 | CV2825359 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2092G>C (p.Val698Leu) | not provided [RCV003428655] | likely benign | 5 | 141487265 | 141487265 | Human | | name |
| 405264609 | CV3185347 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1955G>T (p.Ser652Ile) | not provided [RCV003885911] | likely benign | 5 | 141487128 | 141487128 | Human | | name |
| 405290137 | CV3214100 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1868G>A (p.Arg623Gln) | PCDHGC4-related disorder [RCV003926937] | likely benign | 5 | 141487041 | 141487041 | Human | | name , trait , alternate_id |
| 405760457 | CV3364533 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1273G>T (p.Val425Phe) | Inborn genetic diseases [RCV004500548] | uncertain significance | 5 | 141486446 | 141486446 | Human | 1 | name |
| 405760466 | CV3364534 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1317A>T (p.Arg439Ser) | Inborn genetic diseases [RCV004500549] | uncertain significance | 5 | 141486490 | 141486490 | Human | 1 | name |
| 405760473 | CV3364535 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1327C>T (p.Leu443Phe) | Inborn genetic diseases [RCV004500550] | uncertain significance | 5 | 141486500 | 141486500 | Human | 1 | name |
| 405760482 | CV3364536 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1741C>A (p.Pro581Thr) | Inborn genetic diseases [RCV004500551] | uncertain significance | 5 | 141486914 | 141486914 | Human | 1 | name |
| 407483663 | CV3459864 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1129C>A (p.Pro377Thr) | Inborn genetic diseases [RCV004653313] | uncertain significance | 5 | 141486302 | 141486302 | Human | 1 | name |
| 407483673 | CV3459865 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1955G>A (p.Ser652Asn) | Inborn genetic diseases [RCV004653314] | uncertain significance | 5 | 141487128 | 141487128 | Human | 1 | name |
| 407485025 | CV3459866 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1081G>A (p.Glu361Lys) | Inborn genetic diseases [RCV004659534] | uncertain significance | 5 | 141486254 | 141486254 | Human | 1 | name |
| 407485034 | CV3459868 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1960C>T (p.Pro654Ser) | Inborn genetic diseases [RCV004659535] | uncertain significance | 5 | 141487133 | 141487133 | Human | 1 | name |
| 407483689 | CV3459869 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2219G>C (p.Arg740Thr) | Inborn genetic diseases [RCV004653316] | uncertain significance | 5 | 141487392 | 141487392 | Human | 1 | name |
| 407485041 | CV3459870 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1700G>A (p.Arg567His) | Inborn genetic diseases [RCV004659536] | uncertain significance | 5 | 141486873 | 141486873 | Human | 1 | name |
| 597704121 | CV3571658 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1613G>A (p.Arg538Gln) | Inborn genetic diseases [RCV004957051] | uncertain significance | 5 | 141486786 | 141486786 | Human | 1 | name |
| 597704157 | CV3571661 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1253A>G (p.Lys418Arg) | Inborn genetic diseases [RCV004957054] | uncertain significance | 5 | 141486426 | 141486426 | Human | 1 | name |
| 597704170 | CV3571662 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1066C>G (p.Leu356Val) | Inborn genetic diseases [RCV004957055] | uncertain significance | 5 | 141486239 | 141486239 | Human | 1 | name |
| 597704180 | CV3571663 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2285T>C (p.Phe762Ser) | Inborn genetic diseases [RCV004957056] | uncertain significance | 5 | 141487458 | 141487458 | Human | 1 | name |
| 597704193 | CV3571664 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1517C>G (p.Ser506Cys) | Inborn genetic diseases [RCV004957057] | uncertain significance | 5 | 141486690 | 141486690 | Human | 1 | name |
| 597704202 | CV3571665 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2409C>G (p.Ser803Arg) | Inborn genetic diseases [RCV004957058] | uncertain significance | 5 | 141487582 | 141487582 | Human | 1 | name |
| 597704225 | CV3571667 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1949G>A (p.Ser650Asn) | Inborn genetic diseases [RCV004957060] | uncertain significance | 5 | 141487122 | 141487122 | Human | 1 | name |
| 598271221 | CV3996435 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2321C>A (p.Pro774His) | Inborn genetic diseases [RCV005389125] | uncertain significance | 5 | 141487494 | 141487494 | Human | 1 | name |
| 598271234 | CV3996438 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2384T>C (p.Met795Thr) | Inborn genetic diseases [RCV005389128] | uncertain significance | 5 | 141487557 | 141487557 | Human | 1 | name |
| 598271246 | CV3996441 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2225G>A (p.Gly742Glu) | Inborn genetic diseases [RCV005389131] | uncertain significance | 5 | 141487398 | 141487398 | Human | 1 | name |
| 598195838 | CV3996442 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1808A>G (p.Asn603Ser) | Inborn genetic diseases [RCV005397595] | uncertain significance | 5 | 141486981 | 141486981 | Human | 1 | name |
| 598271249 | CV3996444 | single nucleotide variant | NM_018928.3(PCDHGC4):c.1330A>G (p.Asn444Asp) | Inborn genetic diseases [RCV005389132] | uncertain significance | 5 | 141486503 | 141486503 | Human | 1 | name |
| 616939471 | CV4013963 | single nucleotide variant | NM_018928.3(PCDHGC4):c.2383A>G (p.Met795Val) | not provided [RCV005413455] | likely benign | 5 | 141487556 | 141487556 | Human | | name |
| 407475213 | CV3414286 | deletion | NM_018928.3(PCDHGC4):c.194_195del (p.Gln65fs) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV004596622] | likely pathogenic | 5 | 141485367 | 141485368 | Human | 1 | name |
| 155795938 | CV1859418 | deletion | NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs) | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002465045] | likely pathogenic | 5 | 141485851 | 141485930 | Human | 1 | name |
