| 405290864 | CV3197196 | deletion | NM_001112.4(ADARB1):c.1079-4del | ADARB1-related disorder [RCV003984759] | likely benign | 21 | 45182569 | 45182569 | Human | | name , trait , alternate_id |
| 401920206 | CV2821847 | single nucleotide variant | NM_001112.4(ADARB1):c.-48+6170C>G | not provided [RCV003431576] | likely benign | 21 | 45134743 | 45134743 | Human | | name |
| 38597469 | CV965292 | single nucleotide variant | NM_001112.4(ADARB1):c.1397-354A>G | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003142227]|Syndromic intellectual disability [RCV001254728] | uncertain significance | 21 | 45184569 | 45184569 | Human | 2 | name |
| 243050841 | CV2417652 | deletion | NM_001112.4(ADARB1):c.1245_1247+1del | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003152523] | pathogenic | 21 | 45182751 | 45182754 | Human | 1 | name |
| 155920820 | CV2210895 | duplication | NM_001112.4(ADARB1):c.1079-5_1079-4dup | Inborn genetic diseases [RCV002682834] | uncertain significance | 21 | 45182568 | 45182569 | Human | 1 | name |
| 152102421 | CV1667256 | single nucleotide variant | NM_001112.4(ADARB1):c.456C>T (p.His152=) | not provided [RCV002214242] | likely benign | 21 | 45176157 | 45176157 | Human | | name |
| 329353857 | CV2439860 | single nucleotide variant | NM_001112.4(ADARB1):c.59G>A (p.Arg20His) | Inborn genetic diseases [RCV003201650] | uncertain significance | 21 | 45175760 | 45175760 | Human | 1 | name |
| 401920208 | CV2821848 | single nucleotide variant | NM_001112.4(ADARB1):c.723C>T (p.Asn241=) | not provided [RCV003431577] | likely benign | 21 | 45176424 | 45176424 | Human | | name |
| 401920210 | CV2821849 | single nucleotide variant | NM_001112.4(ADARB1):c.759C>T (p.Ser253=) | not provided [RCV003431578] | likely benign | 21 | 45176460 | 45176460 | Human | | name |
| 401920212 | CV2821850 | single nucleotide variant | NM_001112.4(ADARB1):c.843G>A (p.Lys281=) | not provided [RCV003431579] | likely benign | 21 | 45176544 | 45176544 | Human | | name |
| 15154704 | CV717259 | single nucleotide variant | NM_001112.4(ADARB1):c.309C>T (p.Pro103=) | not provided [RCV000968787] | benign | 21 | 45176010 | 45176010 | Human | | name |
| 15148780 | CV728964 | single nucleotide variant | NM_001112.4(ADARB1):c.486C>T (p.Asn162=) | not provided [RCV000879026] | likely benign | 21 | 45176187 | 45176187 | Human | | name |
| 150404589 | CV1179014 | single nucleotide variant | NM_001112.4(ADARB1):c.1962G>A (p.Lys654=) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001548967]|not provided [RCV004714274] | benign | 21 | 45222053 | 45222053 | Human | 1 | name |
| 155797391 | CV1860353 | single nucleotide variant | NM_001112.4(ADARB1):c.139G>C (p.Gly47Arg) | not provided [RCV002466995] | uncertain significance | 21 | 45175840 | 45175840 | Human | | name |
| 156244303 | CV2283337 | single nucleotide variant | NM_001112.4(ADARB1):c.233T>G (p.Leu78Arg) | Inborn genetic diseases [RCV002854436] | uncertain significance | 21 | 45175934 | 45175934 | Human | 1 | name |
| 243063203 | CV2414550 | single nucleotide variant | NM_001112.4(ADARB1):c.196C>T (p.Arg66Cys) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003141203] | uncertain significance | 21 | 45175897 | 45175897 | Human | 1 | name |
| 401920214 | CV2821851 | single nucleotide variant | NM_001112.4(ADARB1):c.1074A>G (p.Thr358=) | not provided [RCV003431580] | likely benign | 21 | 45180440 | 45180440 | Human | | name |
| 401920217 | CV2821852 | single nucleotide variant | NM_001112.4(ADARB1):c.1719C>G (p.Leu573=) | not provided [RCV003431581] | likely benign | 21 | 45204708 | 45204708 | Human | | name |
| 405871692 | CV3398019 | single nucleotide variant | NM_001112.4(ADARB1):c.1656C>T (p.His552=) | not provided [RCV004575019] | likely benign | 21 | 45204645 | 45204645 | Human | | name |
| 407451671 | CV3423104 | single nucleotide variant | NM_001112.4(ADARB1):c.134G>A (p.Gly45Asp) | Inborn genetic diseases [RCV004608134] | uncertain significance | 21 | 45175835 | 45175835 | Human | 1 | name |
| 598255963 | CV3940580 | single nucleotide variant | NM_001112.4(ADARB1):c.197G>A (p.Arg66His) | Inborn genetic diseases [RCV005324033] | uncertain significance | 21 | 45175898 | 45175898 | Human | 1 | name |
| 617149509 | CV4021387 | single nucleotide variant | NM_001112.4(ADARB1):c.1629G>A (p.Ser543=) | not provided [RCV005425356] | likely benign | 21 | 45204618 | 45204618 | Human | | name |
| 15136689 | CV717260 | single nucleotide variant | NM_001112.4(ADARB1):c.2091C>T (p.Phe697=) | not provided [RCV000965493] | benign | 21 | 45222182 | 45222182 | Human | | name |
| 8637552 | CV92778 | single nucleotide variant | NM_001112.3(ADARB1):c.1389C>T (p.Ile463=) | Malignant melanoma [RCV000072876] | not provided | 21 | 45183503 | 45183503 | Human | | name |
| 156019708 | CV2272670 | single nucleotide variant | NM_001112.4(ADARB1):c.985C>T (p.Arg329Cys) | Inborn genetic diseases [RCV002844500] | uncertain significance | 21 | 45180351 | 45180351 | Human | 1 | name |
| 155939247 | CV2376629 | single nucleotide variant | NM_001112.4(ADARB1):c.488C>G (p.Thr163Arg) | Inborn genetic diseases [RCV002729940] | uncertain significance | 21 | 45176189 | 45176189 | Human | 1 | name |
| 243063207 | CV2414549 | single nucleotide variant | NM_001112.4(ADARB1):c.713T>C (p.Met238Thr) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003141202] | uncertain significance | 21 | 45176414 | 45176414 | Human | 1 | name |
| 329399234 | CV2470002 | single nucleotide variant | NM_001112.4(ADARB1):c.766G>A (p.Gly256Arg) | Inborn genetic diseases [RCV003220830] | uncertain significance | 21 | 45176467 | 45176467 | Human | 1 | name |
| 329952888 | CV2670230 | single nucleotide variant | NM_001112.4(ADARB1):c.730C>G (p.Arg244Gly) | not provided [RCV003233440] | uncertain significance | 21 | 45176431 | 45176431 | Human | | name |
| 401753179 | CV2725222 | single nucleotide variant | NM_001112.4(ADARB1):c.830C>T (p.Ser277Leu) | Inborn genetic diseases [RCV003277606] | uncertain significance | 21 | 45176531 | 45176531 | Human | 1 | name |
| 401889698 | CV2758391 | single nucleotide variant | NM_001112.4(ADARB1):c.524C>T (p.Thr175Met) | Inborn genetic diseases [RCV003368561] | uncertain significance | 21 | 45176225 | 45176225 | Human | 1 | name |
| 405689934 | CV3246531 | single nucleotide variant | NM_001112.4(ADARB1):c.610G>T (p.Gly204Trp) | Inborn genetic diseases [RCV004373101] | uncertain significance | 21 | 45176311 | 45176311 | Human | 1 | name |
| 407451697 | CV3423110 | single nucleotide variant | NM_001112.4(ADARB1):c.724G>A (p.Glu242Lys) | Inborn genetic diseases [RCV004608140] | uncertain significance | 21 | 45176425 | 45176425 | Human | 1 | name |
| 407451730 | CV3423121 | single nucleotide variant | NM_001112.4(ADARB1):c.731G>A (p.Arg244His) | Inborn genetic diseases [RCV004608151] | uncertain significance | 21 | 45176432 | 45176432 | Human | 1 | name |
| 408368273 | CV3500560 | single nucleotide variant | NM_001112.4(ADARB1):c.827G>T (p.Gly276Val) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV004723686] | uncertain significance | 21 | 45176528 | 45176528 | Human | 1 | name |
| 596929574 | CV3531090 | deletion | NM_001112.4(ADARB1):c.1827del (p.Ile609fs) | not provided [RCV004779664] | uncertain significance | 21 | 45220914 | 45220914 | Human | | name |
| 597647237 | CV3660302 | single nucleotide variant | NM_001112.4(ADARB1):c.860G>T (p.Arg287Leu) | Inborn genetic diseases [RCV004973965] | uncertain significance | 21 | 45176561 | 45176561 | Human | 1 | name |
| 597647247 | CV3660322 | single nucleotide variant | NM_001112.4(ADARB1):c.860G>A (p.Arg287Gln) | Inborn genetic diseases [RCV004973967] | uncertain significance | 21 | 45176561 | 45176561 | Human | 1 | name |
| 598255960 | CV3940579 | single nucleotide variant | NM_001112.4(ADARB1):c.913C>G (p.Pro305Ala) | Inborn genetic diseases [RCV005324032] | uncertain significance | 21 | 45176614 | 45176614 | Human | 1 | name |
| 598255965 | CV3940581 | single nucleotide variant | NM_001112.4(ADARB1):c.457C>G (p.Leu153Val) | Inborn genetic diseases [RCV005324034] | uncertain significance | 21 | 45176158 | 45176158 | Human | 1 | name |
| 598255969 | CV3940583 | single nucleotide variant | NM_001112.4(ADARB1):c.331A>G (p.Met111Val) | Inborn genetic diseases [RCV005324036] | uncertain significance | 21 | 45176032 | 45176032 | Human | 1 | name |
| 8628632 | CV83776 | single nucleotide variant | NM_001112.3(ADARB1):c.931C>T (p.Pro311Ser) | Malignant melanoma [RCV000063857] | not provided | 21 | 45176632 | 45176632 | Human | | name |
| 26903847 | CV858619 | single nucleotide variant | NM_001112.4(ADARB1):c.379A>G (p.Lys127Glu) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090011] | pathogenic | 21 | 45176080 | 45176080 | Human | 1 | name |
| 40815535 | CV971156 | duplication | NM_001112.4(ADARB1):c.1299dup (p.Phe434fs) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001262982] | uncertain significance | 21 | 45183407 | 45183408 | Human | 1 | name |
| 10449901 | CV215593 | single nucleotide variant | NM_001112.4(ADARB1):c.1582A>G (p.Ile528Val) | not provided [RCV001531971]|not specified [RCV000203084] | likely benign|uncertain significance | 21 | 45204571 | 45204571 | Human | | name |
| 155963347 | CV2197855 | single nucleotide variant | NM_001112.4(ADARB1):c.1825A>G (p.Ile609Val) | Inborn genetic diseases [RCV002686829] | uncertain significance | 21 | 45220913 | 45220913 | Human | 1 | name |
| 156239630 | CV2285984 | single nucleotide variant | NM_001112.4(ADARB1):c.1969G>A (p.Val657Met) | Inborn genetic diseases [RCV002854160] | likely benign | 21 | 45222060 | 45222060 | Human | 1 | name |
| 156286184 | CV2289136 | single nucleotide variant | NM_001112.4(ADARB1):c.1564C>T (p.Arg522Cys) | Inborn genetic diseases [RCV002878518] | uncertain significance | 21 | 45185090 | 45185090 | Human | 1 | name |
| 156199414 | CV2293794 | single nucleotide variant | NM_001112.4(ADARB1):c.1657G>A (p.Gly553Arg) | Inborn genetic diseases [RCV002874730]|Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV005254728] | uncertain significance | 21 | 45204646 | 45204646 | Human | 2 | name |
| 156265137 | CV2312181 | single nucleotide variant | NM_001112.4(ADARB1):c.1822G>A (p.Ala608Thr) | Inborn genetic diseases [RCV002920753] | uncertain significance | 21 | 45220910 | 45220910 | Human | 1 | name |
| 155922874 | CV2347399 | single nucleotide variant | NM_001112.4(ADARB1):c.1481G>A (p.Arg494His) | Inborn genetic diseases [RCV002992203] | uncertain significance | 21 | 45185007 | 45185007 | Human | 1 | name |
| 156278741 | CV2348258 | single nucleotide variant | NM_001112.4(ADARB1):c.1253A>G (p.Lys418Arg) | Inborn genetic diseases [RCV002989239] | uncertain significance | 21 | 45183367 | 45183367 | Human | 1 | name |
| 156240018 | CV2350311 | single nucleotide variant | NM_001112.4(ADARB1):c.2021G>A (p.Arg674His) | Inborn genetic diseases [RCV002987315] | uncertain significance | 21 | 45222112 | 45222112 | Human | 1 | name |
| 243063924 | CV2405453 | single nucleotide variant | NM_001112.4(ADARB1):c.1573G>A (p.Val525Met) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003142532] | uncertain significance | 21 | 45204562 | 45204562 | Human | 1 | name |
| 243050927 | CV2417651 | single nucleotide variant | NM_001112.4(ADARB1):c.1769G>A (p.Arg590Gln) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003152522] | pathogenic | 21 | 45220857 | 45220857 | Human | 1 | name |
| 329384998 | CV2454555 | single nucleotide variant | NM_001112.4(ADARB1):c.1457C>T (p.Ser486Phe) | Inborn genetic diseases [RCV003214277] | uncertain significance | 21 | 45184983 | 45184983 | Human | 1 | name |
| 401887956 | CV2768898 | single nucleotide variant | NM_001112.4(ADARB1):c.1102G>T (p.Val368Leu) | Inborn genetic diseases [RCV003352670] | uncertain significance | 21 | 45182608 | 45182608 | Human | 1 | name |
| 401890514 | CV2778818 | single nucleotide variant | NM_001112.4(ADARB1):c.1868G>A (p.Arg623His) | Inborn genetic diseases [RCV003368975] | uncertain significance | 21 | 45220956 | 45220956 | Human | 1 | name |
| 405689856 | CV3246517 | single nucleotide variant | NM_001112.4(ADARB1):c.1987C>G (p.Leu663Val) | Inborn genetic diseases [RCV004373087] | uncertain significance | 21 | 45222078 | 45222078 | Human | 1 | name |
| 407451682 | CV3423107 | single nucleotide variant | NM_001112.4(ADARB1):c.1204T>G (p.Ser402Ala) | Inborn genetic diseases [RCV004608137] | uncertain significance | 21 | 45182710 | 45182710 | Human | 1 | name |
| 407451710 | CV3423114 | single nucleotide variant | NM_001112.4(ADARB1):c.1273A>G (p.Ile425Val) | Inborn genetic diseases [RCV004608144] | uncertain significance | 21 | 45183387 | 45183387 | Human | 1 | name |
| 407451744 | CV3423127 | single nucleotide variant | NM_001112.4(ADARB1):c.1178G>C (p.Cys393Ser) | Inborn genetic diseases [RCV004608157] | uncertain significance | 21 | 45182684 | 45182684 | Human | 1 | name |
| 407574627 | CV3499638 | single nucleotide variant | NM_001112.4(ADARB1):c.1847C>A (p.Thr616Asn) | not provided [RCV004720131] | uncertain significance | 21 | 45220935 | 45220935 | Human | | name |
| 408389553 | CV3529453 | single nucleotide variant | NM_001112.4(ADARB1):c.1628C>T (p.Ser543Leu) | not provided [RCV004774275] | uncertain significance | 21 | 45204617 | 45204617 | Human | | name |
| 596926590 | CV3539854 | single nucleotide variant | NM_001112.4(ADARB1):c.1034C>T (p.Pro345Leu) | not provided [RCV004790845] | uncertain significance | 21 | 45180400 | 45180400 | Human | | name |
| 597647224 | CV3660279 | single nucleotide variant | NM_001112.4(ADARB1):c.1898A>G (p.Tyr633Cys) | Inborn genetic diseases [RCV004973963] | uncertain significance | 21 | 45220986 | 45220986 | Human | 1 | name |
| 597647231 | CV3660291 | single nucleotide variant | NM_001112.4(ADARB1):c.1489G>A (p.Ala497Thr) | Inborn genetic diseases [RCV004973964] | uncertain significance | 21 | 45185015 | 45185015 | Human | 1 | name |
| 597647240 | CV3660313 | single nucleotide variant | NM_001112.4(ADARB1):c.2077G>A (p.Glu693Lys) | Inborn genetic diseases [RCV004973966] | uncertain significance | 21 | 45222168 | 45222168 | Human | 1 | name |
| 598216402 | CV3891420 | single nucleotide variant | NM_001112.4(ADARB1):c.1442G>A (p.Arg481Gln) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV005252262] | uncertain significance | 21 | 45184968 | 45184968 | Human | 1 | name |
| 598255971 | CV3940584 | single nucleotide variant | NM_001112.4(ADARB1):c.1400C>T (p.Pro467Leu) | Inborn genetic diseases [RCV005324037] | uncertain significance | 21 | 45184926 | 45184926 | Human | 1 | name |
| 598255975 | CV3940586 | single nucleotide variant | NM_001112.4(ADARB1):c.1511G>A (p.Gly504Glu) | Inborn genetic diseases [RCV005324039] | uncertain significance | 21 | 45185037 | 45185037 | Human | 1 | name |
| 26903845 | CV858617 | single nucleotide variant | NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090009]|Syndromic intellectual disability [RCV001254727] | pathogenic|uncertain significance | 21 | 45182607 | 45182607 | Human | 2 | name |
| 26903846 | CV858618 | single nucleotide variant | NM_001112.4(ADARB1):c.1492A>G (p.Ser498Gly) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090010] | pathogenic | 21 | 45185018 | 45185018 | Human | 1 | name |
| 26903848 | CV858620 | single nucleotide variant | NM_001112.4(ADARB1):c.1688G>A (p.Arg563Gln) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090012] | pathogenic | 21 | 45204677 | 45204677 | Human | 1 | name |
| 26903850 | CV858621 | single nucleotide variant | NM_001112.4(ADARB1):c.2045C>T (p.Ala682Val) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090013] | pathogenic | 21 | 45222136 | 45222136 | Human | 1 | name |
| 39456359 | CV965446 | single nucleotide variant | NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser) | Microcephaly [RCV001254918] | benign | 21 | 45222084 | 45222084 | Human | 2 | name |
| 243062545 | CV2405018 | deletion | NM_001112.4(ADARB1):c.409_411del (p.Lys137del) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003140568] | uncertain significance | 21 | 45176108 | 45176110 | Human | 1 | name |