| 155939945 | CV2221871 | single nucleotide variant | NM_001125.4(ADPRH):c.22A>T (p.Met8Leu) | not specified [RCV004102893] | uncertain significance | 3 | 119582191 | 119582191 | Human | | name |
| 597677217 | CV3652560 | single nucleotide variant | NM_001125.4(ADPRH):c.24G>A (p.Met8Ile) | not specified [RCV004913859] | uncertain significance | 3 | 119582193 | 119582193 | Human | | name |
| 597677237 | CV3652563 | single nucleotide variant | NM_001125.4(ADPRH):c.53G>A (p.Gly18Glu) | not specified [RCV004913861] | uncertain significance | 3 | 119582222 | 119582222 | Human | | name |
| 598263064 | CV3959967 | single nucleotide variant | NM_001125.4(ADPRH):c.97A>G (p.Ile33Val) | not specified [RCV005325569] | uncertain significance | 3 | 119582266 | 119582266 | Human | | name |
| 155928142 | CV2346477 | single nucleotide variant | NM_001125.4(ADPRH):c.242A>G (p.Tyr81Cys) | not specified [RCV004206401] | uncertain significance | 3 | 119582411 | 119582411 | Human | | name |
| 156138283 | CV2374207 | single nucleotide variant | NM_001125.4(ADPRH):c.239A>G (p.Tyr80Cys) | not specified [RCV004229351] | uncertain significance | 3 | 119582408 | 119582408 | Human | | name |
| 401887155 | CV2775672 | single nucleotide variant | NM_001125.4(ADPRH):c.191C>T (p.Ala64Val) | not specified [RCV004350810] | uncertain significance | 3 | 119582360 | 119582360 | Human | | name |
| 407506229 | CV3434484 | single nucleotide variant | NM_001125.4(ADPRH):c.253A>G (p.Lys85Glu) | not specified [RCV004624633] | uncertain significance | 3 | 119582422 | 119582422 | Human | | name |
| 597677192 | CV3652557 | single nucleotide variant | NM_001125.4(ADPRH):c.209C>G (p.Ala70Gly) | not specified [RCV004913857] | uncertain significance | 3 | 119582378 | 119582378 | Human | | name |
| 156234114 | CV2197173 | single nucleotide variant | NM_001125.4(ADPRH):c.479G>A (p.Arg160Gln) | not specified [RCV004071594] | uncertain significance | 3 | 119586465 | 119586465 | Human | | name |
| 155924076 | CV2280456 | single nucleotide variant | NM_001125.4(ADPRH):c.418C>T (p.Leu140Phe) | not specified [RCV004140626] | uncertain significance | 3 | 119586404 | 119586404 | Human | | name |
| 155905260 | CV2298957 | single nucleotide variant | NM_001125.4(ADPRH):c.790T>C (p.Ser264Pro) | not specified [RCV004156485] | uncertain significance | 3 | 119587594 | 119587594 | Human | | name |
| 156059529 | CV2391762 | single nucleotide variant | NM_001125.4(ADPRH):c.706A>G (p.Ile236Val) | not specified [RCV004235644] | uncertain significance | 3 | 119587510 | 119587510 | Human | | name |
| 329372526 | CV2443152 | single nucleotide variant | NM_001125.4(ADPRH):c.831T>G (p.Ile277Met) | not specified [RCV004255347] | uncertain significance | 3 | 119587635 | 119587635 | Human | | name |
| 329394463 | CV2469884 | single nucleotide variant | NM_001125.4(ADPRH):c.490C>G (p.His164Asp) | not specified [RCV004285356] | uncertain significance | 3 | 119586476 | 119586476 | Human | | name |
| 401862822 | CV2755447 | single nucleotide variant | NM_001125.4(ADPRH):c.415G>C (p.Gly139Arg) | not specified [RCV004340038] | uncertain significance | 3 | 119586401 | 119586401 | Human | | name |
| 401873972 | CV2773618 | single nucleotide variant | NM_001125.4(ADPRH):c.844G>A (p.Val282Ile) | not specified [RCV004356313] | likely benign | 3 | 119587648 | 119587648 | Human | | name |
| 405741496 | CV3259485 | single nucleotide variant | NM_001125.4(ADPRH):c.399G>A (p.Met133Ile) | not specified [RCV004380623] | uncertain significance | 3 | 119586385 | 119586385 | Human | | name |
| 405741649 | CV3259506 | single nucleotide variant | NM_001125.4(ADPRH):c.763G>C (p.Asp255His) | not specified [RCV004380644] | uncertain significance | 3 | 119587567 | 119587567 | Human | | name |
| 405741754 | CV3259521 | single nucleotide variant | NM_001125.4(ADPRH):c.873G>T (p.Glu291Asp) | not specified [RCV004380659] | uncertain significance | 3 | 119587677 | 119587677 | Human | | name |
| 405741774 | CV3259524 | single nucleotide variant | NM_001125.4(ADPRH):c.877G>A (p.Ala293Thr) | not specified [RCV004380662] | uncertain significance | 3 | 119587681 | 119587681 | Human | | name |
| 407506260 | CV3434496 | single nucleotide variant | NM_001125.4(ADPRH):c.308C>T (p.Ser103Leu) | not specified [RCV004624645] | uncertain significance | 3 | 119586294 | 119586294 | Human | | name |
| 407506321 | CV3434515 | single nucleotide variant | NM_001125.4(ADPRH):c.886G>A (p.Ala296Thr) | not specified [RCV004624664] | uncertain significance | 3 | 119587690 | 119587690 | Human | | name |
| 597677168 | CV3652554 | single nucleotide variant | NM_001125.4(ADPRH):c.896A>T (p.His299Leu) | not specified [RCV004913855] | uncertain significance | 3 | 119587700 | 119587700 | Human | | name |
| 597677180 | CV3652556 | single nucleotide variant | NM_001125.4(ADPRH):c.347A>G (p.Asn116Ser) | not specified [RCV004913856] | uncertain significance | 3 | 119586333 | 119586333 | Human | | name |
| 597677203 | CV3652558 | single nucleotide variant | NM_001125.4(ADPRH):c.572G>C (p.Trp191Ser) | not specified [RCV004913858] | uncertain significance | 3 | 119586558 | 119586558 | Human | | name |
| 597677228 | CV3652561 | single nucleotide variant | NM_001125.4(ADPRH):c.544G>A (p.Ala182Thr) | not specified [RCV004913860] | uncertain significance | 3 | 119586530 | 119586530 | Human | | name |
| 598263127 | CV3959992 | single nucleotide variant | NM_001125.4(ADPRH):c.467T>C (p.Ile156Thr) | not specified [RCV005325592] | uncertain significance | 3 | 119586453 | 119586453 | Human | | name |
| 598263146 | CV3960000 | single nucleotide variant | NM_001125.4(ADPRH):c.542A>C (p.Tyr181Ser) | not specified [RCV005325598] | uncertain significance | 3 | 119586528 | 119586528 | Human | | name |
| 598263184 | CV3960010 | single nucleotide variant | NM_001125.4(ADPRH):c.1010T>G (p.Leu337Arg) | not specified [RCV005325608] | uncertain significance | 3 | 119587814 | 119587814 | Human | | name |
| 401934138 | CV2814095 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.120C>T (p.Ser40=) | not provided [RCV003411021] | likely benign | 13 | 113453318 | 113453318 | Human | | name |
| 15180283 | CV713851 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.147G>A (p.Ser49=) | not provided [RCV000974113] | benign | 13 | 113453291 | 113453291 | Human | | name |
| 15117761 | CV738976 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.20C>T (p.Ala7Val) | not provided [RCV000895433] | benign | 13 | 113453418 | 113453418 | Human | | name |
| 155956507 | CV2281929 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.91A>C (p.Met31Leu) | not specified [RCV004138703] | uncertain significance | 13 | 113453347 | 113453347 | Human | | name |
| 401876179 | CV2777691 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.40G>A (p.Gly14Ser) | not specified [RCV004343526] | uncertain significance | 13 | 113453398 | 113453398 | Human | | name |
| 401897002 | CV2785488 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.37G>A (p.Val13Ile) | not specified [RCV004363016] | uncertain significance | 13 | 113453401 | 113453401 | Human | | name |
| 401915180 | CV2814094 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.387G>T (p.Gly129=) | not provided [RCV003400542] | likely benign | 13 | 113433860 | 113433860 | Human | | name |
| 407506351 | CV3434525 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.92T>C (p.Met31Thr) | not specified [RCV004624674] | uncertain significance | 13 | 113453346 | 113453346 | Human | | name |
| 598263235 | CV3960030 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.31G>A (p.Gly11Arg) | not specified [RCV005325627] | uncertain significance | 13 | 113453407 | 113453407 | Human | | name |
| 15197548 | CV725401 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.846C>T (p.Asp282=) | not provided [RCV000890089] | benign | 13 | 113424278 | 113424278 | Human | | name |
| 156282453 | CV2334586 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.163G>A (p.Val55Met) | not specified [RCV004188575] | uncertain significance | 13 | 113453275 | 113453275 | Human | | name |
| 156348346 | CV2384938 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.199G>A (p.Glu67Lys) | not specified [RCV004226175] | uncertain significance | 13 | 113453239 | 113453239 | Human | | name |
| 401855973 | CV2754180 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.242G>A (p.Arg81Gln) | not specified [RCV004334370] | uncertain significance | 13 | 113444562 | 113444562 | Human | | name |
| 401865803 | CV2755643 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.116G>A (p.Arg39His) | not specified [RCV004342028] | uncertain significance | 13 | 113453322 | 113453322 | Human | | name |
| 401887903 | CV2768827 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.172A>C (p.Asn58His) | not specified [RCV004346951] | uncertain significance | 13 | 113453266 | 113453266 | Human | | name |
| 401867649 | CV2780709 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.146C>T (p.Ser49Leu) | not specified [RCV004352048] | uncertain significance | 13 | 113453292 | 113453292 | Human | | name |
| 401934137 | CV2814090 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.2907G>A (p.Arg969=) | not provided [RCV003411020] | likely benign | 13 | 113406375 | 113406375 | Human | | name |
| 401915175 | CV2814092 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1104C>T (p.Asp368=) | not provided [RCV003400540] | likely benign | 13 | 113408178 | 113408178 | Human | | name |
| 407488148 | CV3434536 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.293G>A (p.Arg98Gln) | not specified [RCV004619687] | uncertain significance | 13 | 113444511 | 113444511 | Human | | name |
| 597677258 | CV3652567 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.289C>T (p.Arg97Cys) | not specified [RCV004913863] | uncertain significance | 13 | 113444515 | 113444515 | Human | | name |
| 597677266 | CV3652568 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.271G>A (p.Val91Ile) | not specified [RCV004913864] | uncertain significance | 13 | 113444533 | 113444533 | Human | | name |
| 597677341 | CV3652604 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.292C>T (p.Arg98Trp) | not specified [RCV004913871] | uncertain significance | 13 | 113444512 | 113444512 | Human | | name |
| 15178646 | CV713850 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.158G>A (p.Trp53Ter) | not provided [RCV000973716] | likely benign | 13 | 113453280 | 113453280 | Human | | name |
| 156254894 | CV2203333 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.820C>A (p.His274Asn) | not specified [RCV004072565] | uncertain significance | 13 | 113424304 | 113424304 | Human | | name |
| 156020486 | CV2230369 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.424C>T (p.Arg142Trp) | not specified [RCV004099965] | uncertain significance | 13 | 113433823 | 113433823 | Human | | name |
| 156197645 | CV2237327 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.442C>T (p.Arg148Trp) | not specified [RCV004104526] | uncertain significance | 13 | 113433805 | 113433805 | Human | | name |
| 156059950 | CV2239393 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.547G>A (p.Ala183Thr) | not specified [RCV004114126] | uncertain significance | 13 | 113429051 | 113429051 | Human | | name |
| 156161430 | CV2246399 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.871T>C (p.Trp291Arg) | not specified [RCV004108131] | uncertain significance | 13 | 113424253 | 113424253 | Human | | name |
| 155907473 | CV2276420 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.481C>T (p.Arg161Trp) | not specified [RCV004144147] | uncertain significance | 13 | 113433766 | 113433766 | Human | | name |
| 156346347 | CV2305277 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.614A>T (p.Glu205Val) | not specified [RCV004171198] | uncertain significance | 13 | 113428984 | 113428984 | Human | | name |
| 156045197 | CV2308062 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.992A>G (p.Gln331Arg) | not specified [RCV004170487] | uncertain significance | 13 | 113422895 | 113422895 | Human | | name |
| 156110004 | CV2355544 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.425G>A (p.Arg142Gln) | not specified [RCV004205392] | uncertain significance | 13 | 113433822 | 113433822 | Human | | name |
| 156054677 | CV2361264 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.443G>A (p.Arg148Gln) | not specified [RCV004218482] | uncertain significance | 13 | 113433804 | 113433804 | Human | | name |
| 156090070 | CV2392147 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.478G>A (p.Gly160Ser) | not specified [RCV004238039] | uncertain significance | 13 | 113433769 | 113433769 | Human | | name |
| 329364871 | CV2443997 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.767G>A (p.Arg256Lys) | not specified [RCV004258321] | uncertain significance | 13 | 113425059 | 113425059 | Human | | name |
| 329367620 | CV2456953 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.601C>A (p.Pro201Thr) | not specified [RCV004270895] | uncertain significance | 13 | 113428997 | 113428997 | Human | | name |
| 401719520 | CV2679561 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.395C>T (p.Ala132Val) | not specified [RCV004287862] | uncertain significance | 13 | 113433852 | 113433852 | Human | | name |
| 401755244 | CV2682424 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.889C>T (p.Arg297Trp) | not specified [RCV004290452] | uncertain significance | 13 | 113424235 | 113424235 | Human | | name |
| 401915169 | CV2814088 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.5046A>G (p.Lys1682=) | not provided [RCV003400538] | uncertain significance | 13 | 113404236 | 113404236 | Human | | name |
| 401934136 | CV2814089 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.3825C>T (p.Ser1275=) | not provided [RCV003411019] | likely benign | 13 | 113405457 | 113405457 | Human | | name |
| 405742027 | CV3259585 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.576G>C (p.Trp192Cys) | not specified [RCV004380723] | uncertain significance | 13 | 113429022 | 113429022 | Human | | name |
| 405742045 | CV3259588 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.593G>A (p.Arg198Gln) | not specified [RCV004380726] | uncertain significance | 13 | 113429005 | 113429005 | Human | | name |
| 405742284 | CV3259599 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.827C>A (p.Ala276Asp) | not specified [RCV004380737] | uncertain significance | 13 | 113424297 | 113424297 | Human | | name |
| 405742319 | CV3259604 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.832A>G (p.Met278Val) | not specified [RCV004380742] | uncertain significance | 13 | 113424292 | 113424292 | Human | | name |
| 405742397 | CV3259615 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.890G>A (p.Arg297Gln) | not specified [RCV004380753] | uncertain significance | 13 | 113424234 | 113424234 | Human | | name |
| 407488213 | CV3434547 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.620G>C (p.Cys207Ser) | not specified [RCV004619698] | uncertain significance | 13 | 113428978 | 113428978 | Human | | name |
| 407488321 | CV3434567 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.634C>G (p.Arg212Gly) | not specified [RCV004619718] | uncertain significance | 13 | 113428964 | 113428964 | Human | | name |
| 597677248 | CV3652565 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.815G>A (p.Arg272Gln) | not specified [RCV004913862] | uncertain significance | 13 | 113424309 | 113424309 | Human | | name |
| 597677279 | CV3652569 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.823G>A (p.Asp275Asn) | not specified [RCV004913865] | uncertain significance | 13 | 113424301 | 113424301 | Human | | name |
| 597677290 | CV3652576 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.602C>T (p.Pro201Leu) | not specified [RCV004913866] | uncertain significance | 13 | 113428996 | 113428996 | Human | | name |
| 597677299 | CV3652582 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.919G>A (p.Ala307Thr) | not specified [RCV004913867] | uncertain significance | 13 | 113422968 | 113422968 | Human | | name |
| 597677309 | CV3652587 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.547G>T (p.Ala183Ser) | not specified [RCV004913868] | uncertain significance | 13 | 113429051 | 113429051 | Human | | name |
| 597677350 | CV3652609 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.853C>G (p.Leu285Val) | not specified [RCV004913872] | uncertain significance | 13 | 113424271 | 113424271 | Human | | name |
| 597677360 | CV3652616 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.682T>C (p.Trp228Arg) | not specified [RCV004913873] | uncertain significance | 13 | 113425144 | 113425144 | Human | | name |
| 597677369 | CV3652623 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.956T>C (p.Leu319Pro) | not specified [RCV004913874] | uncertain significance | 13 | 113422931 | 113422931 | Human | | name |
| 598128251 | CV3887450 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.5142A>G (p.Glu1714=) | not provided [RCV005243623] | likely benign | 13 | 113404140 | 113404140 | Human | | name |
| 598263208 | CV3960020 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.554A>G (p.Gln185Arg) | not specified [RCV005325617] | uncertain significance | 13 | 113429044 | 113429044 | Human | | name |
| 598263253 | CV3960038 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.835A>G (p.Ile279Val) | not specified [RCV005325635] | uncertain significance | 13 | 113424289 | 113424289 | Human | | name |
| 156334275 | CV2214744 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1031C>T (p.Ala344Val) | not specified [RCV004090554] | uncertain significance | 13 | 113422856 | 113422856 | Human | | name |
| 156300242 | CV2248784 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1060A>G (p.Asn354Asp) | not specified [RCV004121935] | uncertain significance | 13 | 113422827 | 113422827 | Human | | name |
| 401753956 | CV2719123 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1010A>G (p.Glu337Gly) | not specified [RCV004324791] | uncertain significance | 13 | 113422877 | 113422877 | Human | | name |
| 401915171 | CV2814091 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1665C>A (p.Phe555Leu) | not provided [RCV003400539] | likely benign | 13 | 113407617 | 113407617 | Human | | name |
| 401915177 | CV2814093 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1030G>A (p.Ala344Thr) | not provided [RCV003400541] | likely benign | 13 | 113422857 | 113422857 | Human | | name |
| 405742205 | CV3259530 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1021G>T (p.Asp341Tyr) | not specified [RCV004380668] | uncertain significance | 13 | 113422866 | 113422866 | Human | | name |
| 407488267 | CV3434556 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1042C>T (p.Arg348Cys) | not specified [RCV004619707] | uncertain significance | 13 | 113422845 | 113422845 | Human | | name |
| 597677322 | CV3652591 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1003G>A (p.Asp335Asn) | not specified [RCV004913869] | uncertain significance | 13 | 113422884 | 113422884 | Human | | name |
| 597677331 | CV3652597 | single nucleotide variant | NM_001394807.1(ADPRHL1):c.1043G>C (p.Arg348Pro) | not specified [RCV004913870] | uncertain significance | 13 | 113422844 | 113422844 | Human | | name |
| 151663242 | CV1331009 | deletion | NM_017825.3(ADPRS):c.340_341del (p.Arg114fs) | ADPRHL2-related disorder [RCV001825182]|not provided [RCV004720951] | pathogenic|not provided | 1 | 36091649 | 36091650 | Human | 1 | trait |