| 150507365 | CV1256915 | single nucleotide variant | NM_022836.4(DCLRE1B):c.-12A>G | not provided [RCV001678418] | benign | 1 | 113905575 | 113905575 | Human | | name |
| 151784866 | CV1342496 | single nucleotide variant | NM_022836.4(DCLRE1B):c.190-3C>G | Hoyeraal-Hreidarsson syndrome [RCV002010082] | uncertain significance | 1 | 113906993 | 113906993 | Human | 1 | name |
| 150457183 | CV1248751 | single nucleotide variant | NM_022836.4(DCLRE1B):c.355+52T>A | not provided [RCV001668927] | benign | 1 | 113907213 | 113907213 | Human | | name |
| 150507442 | CV1256934 | single nucleotide variant | NM_022836.4(DCLRE1B):c.355+74A>T | not provided [RCV001678437] | benign | 1 | 113907235 | 113907235 | Human | | name |
| 150468236 | CV1259471 | single nucleotide variant | NM_022836.4(DCLRE1B):c.355+73T>A | not provided [RCV001683770] | benign | 1 | 113907234 | 113907234 | Human | | name |
| 150437818 | CV1262368 | single nucleotide variant | NM_022836.4(DCLRE1B):c.355+75A>T | not provided [RCV001678727] | benign | 1 | 113907236 | 113907236 | Human | | name |
| 150469348 | CV1268082 | single nucleotide variant | NM_022836.4(DCLRE1B):c.355+46T>A | not provided [RCV001694945] | benign | 1 | 113907207 | 113907207 | Human | | name |
| 150485052 | CV1273930 | single nucleotide variant | NM_022836.4(DCLRE1B):c.355+79A>T | not provided [RCV001698632] | benign | 1 | 113907240 | 113907240 | Human | | name |
| 150457975 | CV1248864 | single nucleotide variant | NM_022836.4(DCLRE1B):c.538+151T>C | not provided [RCV001669040] | benign | 1 | 113908342 | 113908342 | Human | | name |
| 150439015 | CV1264911 | single nucleotide variant | NM_022836.4(DCLRE1B):c.355+239G>A | not provided [RCV001678904] | benign | 1 | 113907400 | 113907400 | Human | | name |
| 150485330 | CV1250206 | single nucleotide variant | NM_001319947.2(DCLRE1B):c.-330-177G>T | not provided [RCV001673819] | benign | 1 | 113905292 | 113905292 | Human | | name |
| 150471972 | CV1259220 | single nucleotide variant | NM_001319947.2(DCLRE1B):c.-331+281T>C | not provided [RCV001684466] | benign | 1 | 113904989 | 113904989 | Human | | name |
| 127232637 | CV1066081 | single nucleotide variant | NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=) | Hoyeraal-Hreidarsson syndrome [RCV001395794] | likely benign | 1 | 113905601 | 113905601 | Human | 1 | name |
| 127288315 | CV1109343 | single nucleotide variant | NM_022836.4(DCLRE1B):c.12C>T (p.Val4=) | Hoyeraal-Hreidarsson syndrome [RCV001450437] | likely benign | 1 | 113905598 | 113905598 | Human | 1 | name |
| 127270485 | CV1087850 | single nucleotide variant | NM_022836.4(DCLRE1B):c.99C>T (p.His33=) | Hoyeraal-Hreidarsson syndrome [RCV001441472] | likely benign | 1 | 113905685 | 113905685 | Human | 1 | name |
| 127279050 | CV1087851 | single nucleotide variant | NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=) | Hoyeraal-Hreidarsson syndrome [RCV001445505] | likely benign | 1 | 113905739 | 113905739 | Human | 1 | name |
| 127308721 | CV1109344 | single nucleotide variant | NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=) | Hoyeraal-Hreidarsson syndrome [RCV001463372] | likely benign | 1 | 113905721 | 113905721 | Human | 1 | name |
| 127318224 | CV1153208 | single nucleotide variant | NM_022836.4(DCLRE1B):c.234T>C (p.His78=) | Hoyeraal-Hreidarsson syndrome [RCV001521546]|not provided [RCV001692425]|not specified [RCV003487400] | benign | 1 | 113907040 | 113907040 | Human | 1 | name |
| 13465670 | CV447064 | single nucleotide variant | NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) | DCLRE1B-related disorder [RCV003960317]|Hoyeraal-Hreidarsson syndrome [RCV000542967] | likely benign | 1 | 113907085 | 113907085 | Human | 2 | name , trait , alternate_id |
| 13815333 | CV556984 | single nucleotide variant | NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) | Hoyeraal-Hreidarsson syndrome [RCV000691523] | uncertain significance | 1 | 113905596 | 113905596 | Human | 1 | name |
| 15174588 | CV761085 | single nucleotide variant | NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=) | Hoyeraal-Hreidarsson syndrome [RCV001473343] | likely benign | 1 | 113907049 | 113907049 | Human | 1 | name |
| 15126586 | CV780274 | single nucleotide variant | NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=) | Hoyeraal-Hreidarsson syndrome [RCV001424854] | likely benign | 1 | 113907079 | 113907079 | Human | 1 | name |
| 38479474 | CV929978 | single nucleotide variant | NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=) | Hoyeraal-Hreidarsson syndrome [RCV001205991] | likely benign|uncertain significance | 1 | 113905697 | 113905697 | Human | 1 | name |
| 127281808 | CV1066082 | single nucleotide variant | NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=) | Hoyeraal-Hreidarsson syndrome [RCV001410701] | likely benign | 1 | 113911238 | 113911238 | Human | 1 | name |
| 127230795 | CV1066083 | single nucleotide variant | NM_022836.4(DCLRE1B):c.858C>T (p.Val286=) | Hoyeraal-Hreidarsson syndrome [RCV001412730] | likely benign | 1 | 113911450 | 113911450 | Human | 1 | name |
| 127247366 | CV1087852 | single nucleotide variant | NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=) | Hoyeraal-Hreidarsson syndrome [RCV001435613] | likely benign | 1 | 113908172 | 113908172 | Human | 1 | name |
| 127272181 | CV1087853 | single nucleotide variant | NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=) | Hoyeraal-Hreidarsson syndrome [RCV001431211] | likely benign | 1 | 113911432 | 113911432 | Human | 1 | name |
| 127294838 | CV1109345 | single nucleotide variant | NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=) | Hoyeraal-Hreidarsson syndrome [RCV001459561] | likely benign | 1 | 113908083 | 113908083 | Human | 1 | name |
| 127336209 | CV1109346 | single nucleotide variant | NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=) | Hoyeraal-Hreidarsson syndrome [RCV001474822] | likely benign | 1 | 113911174 | 113911174 | Human | 1 | name |
| 127310810 | CV1109347 | single nucleotide variant | NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=) | Hoyeraal-Hreidarsson syndrome [RCV001463976] | likely benign | 1 | 113911324 | 113911324 | Human | 1 | name |
| 127293402 | CV1109348 | single nucleotide variant | NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=) | Hoyeraal-Hreidarsson syndrome [RCV001459222] | likely benign | 1 | 113911345 | 113911345 | Human | 1 | name |
| 127327245 | CV1130238 | single nucleotide variant | NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=) | DCLRE1B-related disorder [RCV003900683]|Hoyeraal-Hreidarsson syndrome [RCV001486284] | likely benign | 1 | 113911363 | 113911363 | Human | 2 | name , trait , alternate_id |
| 127301174 | CV1130239 | single nucleotide variant | NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=) | Hoyeraal-Hreidarsson syndrome [RCV001478609] | likely benign | 1 | 113911432 | 113911432 | Human | 1 | name |
| 127313404 | CV1130240 | single nucleotide variant | NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=) | Hoyeraal-Hreidarsson syndrome [RCV001481984] | likely benign | 1 | 113911585 | 113911585 | Human | 1 | name |
| 150464228 | CV1214903 | insertion | NM_022836.4(DCLRE1B):c.355+73_355+74insTA | not provided [RCV001613899] | benign | 1 | 113907234 | 113907235 | Human | | name |
| 150521671 | CV1289118 | single nucleotide variant | NM_022836.4(DCLRE1B):c.73C>A (p.Arg25Ser) | not provided [RCV001725882] | uncertain significance | 1 | 113905659 | 113905659 | Human | | name |
| 152168732 | CV1548140 | single nucleotide variant | NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=) | Hoyeraal-Hreidarsson syndrome [RCV002161217] | likely benign | 1 | 113911345 | 113911345 | Human | 1 | name |
| 329349395 | CV2473285 | single nucleotide variant | NM_022836.4(DCLRE1B):c.807C>T (p.His269=) | Fanconi anemia complementation group C [RCV003221328] | pathogenic | 1 | 113911399 | 113911399 | Human | 1 | name |
| 401770123 | CV2710909 | single nucleotide variant | NM_022836.4(DCLRE1B):c.61G>C (p.Ala21Pro) | not specified [RCV004308811] | uncertain significance | 1 | 113905647 | 113905647 | Human | | name |
| 597800996 | CV3652148 | single nucleotide variant | NM_022836.4(DCLRE1B):c.59G>A (p.Arg20Gln) | not specified [RCV004906006] | uncertain significance | 1 | 113905645 | 113905645 | Human | | name |
| 13496024 | CV447144 | single nucleotide variant | NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) | Hoyeraal-Hreidarsson syndrome [RCV000560062] | uncertain significance | 1 | 113905663 | 113905663 | Human | 1 | name |
| 15142861 | CV761086 | single nucleotide variant | NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=) | Hoyeraal-Hreidarsson syndrome [RCV001394984] | likely benign | 1 | 113908181 | 113908181 | Human | 1 | name |
| 26898018 | CV822570 | single nucleotide variant | NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=) | Hoyeraal-Hreidarsson syndrome [RCV001035217] | likely benign|uncertain significance | 1 | 113911552 | 113911552 | Human | 1 | name |
| 38483777 | CV921591 | single nucleotide variant | NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly) | Hoyeraal-Hreidarsson syndrome [RCV001219103] | uncertain significance | 1 | 113905627 | 113905627 | Human | 1 | name |
| 126742873 | CV1022561 | single nucleotide variant | NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe) | Hoyeraal-Hreidarsson syndrome [RCV001351070] | uncertain significance | 1 | 113907086 | 113907086 | Human | 1 | name |
| 126917997 | CV1039379 | single nucleotide variant | NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly) | Hoyeraal-Hreidarsson syndrome [RCV001361481] | uncertain significance | 1 | 113905764 | 113905764 | Human | 1 | name |
| 126923442 | CV1039380 | single nucleotide variant | NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln) | Hoyeraal-Hreidarsson syndrome [RCV001365851]|not specified [RCV004907711] | uncertain significance | 1 | 113907032 | 113907032 | Human | 1 | name |
| 127230909 | CV1066084 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=) | Hoyeraal-Hreidarsson syndrome [RCV001395021] | likely benign | 1 | 113911729 | 113911729 | Human | 1 | name |
| 127272343 | CV1087854 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=) | Hoyeraal-Hreidarsson syndrome [RCV001442162] | likely benign | 1 | 113912026 | 113912026 | Human | 1 | name |
| 127281551 | CV1087855 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=) | Hoyeraal-Hreidarsson syndrome [RCV001447228] | likely benign | 1 | 113912092 | 113912092 | Human | 1 | name |
| 127318899 | CV1109349 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=) | Hoyeraal-Hreidarsson syndrome [RCV001466395] | likely benign | 1 | 113911960 | 113911960 | Human | 1 | name |
| 127329047 | CV1130241 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=) | Hoyeraal-Hreidarsson syndrome [RCV001487191] | likely benign | 1 | 113911934 | 113911934 | Human | 1 | name |
| 127291268 | CV227585 | single nucleotide variant | NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) | Hereditary spastic paraplegia 47 [RCV001521544]|Hoyeraal-Hreidarsson syndrome [RCV005208910]|not provided [RCV001651069]|not specified [RCV003488469] | benign | 1 | 113905767 | 113905767 | Human | 10 | name |
| 329349394 | CV2473284 | single nucleotide variant | NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly) | Fanconi anemia complementation group C [RCV003221327] | pathogenic | 1 | 113907054 | 113907054 | Human | 1 | name |
| 405293301 | CV3207332 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1545G>T (p.Gly515=) | DCLRE1B-related disorder [RCV003931721] | likely benign | 1 | 113912137 | 113912137 | Human | | name , trait , alternate_id |
| 405289928 | CV3214015 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1362G>A (p.Gly454=) | DCLRE1B-related disorder [RCV003926862] | likely benign | 1 | 113911954 | 113911954 | Human | | name , trait , alternate_id |
| 405691339 | CV3243290 | single nucleotide variant | NM_022836.4(DCLRE1B):c.134C>T (p.Ala45Val) | not specified [RCV004373372] | uncertain significance | 1 | 113905720 | 113905720 | Human | | name |
| 405691345 | CV3243291 | single nucleotide variant | NM_022836.4(DCLRE1B):c.247G>A (p.Asp83Asn) | not specified [RCV004373373] | uncertain significance | 1 | 113907053 | 113907053 | Human | | name |
| 597800992 | CV3652146 | single nucleotide variant | NM_022836.4(DCLRE1B):c.176A>C (p.His59Pro) | not specified [RCV004906004] | uncertain significance | 1 | 113905762 | 113905762 | Human | | name |
| 597800999 | CV3652150 | single nucleotide variant | NM_022836.4(DCLRE1B):c.278C>T (p.Thr93Ile) | not specified [RCV004906008] | uncertain significance | 1 | 113907084 | 113907084 | Human | | name |
| 13609910 | CV515026 | single nucleotide variant | NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) | DCLRE1B-related disorder [RCV003392482]|Hoyeraal-Hreidarsson syndrome [RCV000640945] | uncertain significance | 1 | 113907024 | 113907024 | Human | 2 | name , trait , alternate_id |
| 13609912 | CV515027 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) | Hoyeraal-Hreidarsson syndrome [RCV000640946] | likely benign|uncertain significance | 1 | 113911741 | 113911741 | Human | 1 | name |
| 13814141 | CV556589 | single nucleotide variant | NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp) | Hoyeraal-Hreidarsson syndrome [RCV000704744]|not specified [RCV005318495] | uncertain significance | 1 | 113905722 | 113905722 | Human | 1 | name |
| 13812654 | CV556986 | single nucleotide variant | NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu) | Hoyeraal-Hreidarsson syndrome [RCV000689595] | uncertain significance | 1 | 113905723 | 113905723 | Human | 1 | name |
| 14704826 | CV626651 | single nucleotide variant | NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) | Hoyeraal-Hreidarsson syndrome [RCV000807886] | uncertain significance | 1 | 113907080 | 113907080 | Human | 1 | name |
| 15182960 | CV706589 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) | Hoyeraal-Hreidarsson syndrome [RCV000974762] | benign | 1 | 113911894 | 113911894 | Human | 1 | name |
| 15103068 | CV780275 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1455C>T (p.His485=) | Hoyeraal-Hreidarsson syndrome [RCV001503812] | likely benign | 1 | 113912047 | 113912047 | Human | 1 | name |
| 26901752 | CV822564 | single nucleotide variant | NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val) | Hoyeraal-Hreidarsson syndrome [RCV001060141] | uncertain significance | 1 | 113907059 | 113907059 | Human | 1 | name |
| 38482497 | CV929979 | single nucleotide variant | NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) | Hoyeraal-Hreidarsson syndrome [RCV001207283] | uncertain significance | 1 | 113907066 | 113907066 | Human | 1 | name |
| 126748975 | CV986834 | single nucleotide variant | NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro) | Hoyeraal-Hreidarsson syndrome [RCV001306541] | uncertain significance | 1 | 113905774 | 113905774 | Human | 1 | name |
| 126916878 | CV1039381 | single nucleotide variant | NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser) | Hoyeraal-Hreidarsson syndrome [RCV001360840] | uncertain significance | 1 | 113907147 | 113907147 | Human | 1 | name |
| 126918271 | CV1039382 | single nucleotide variant | NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) | Dyskeratosis congenita, autosomal recessive 8 [RCV002463464]|Hoyeraal-Hreidarsson syndrome [RCV001361631] | pathogenic|uncertain significance|not provided | 1 | 113908125 | 113908125 | Human | 2 | name |
| 126922118 | CV1039383 | single nucleotide variant | NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) | Hoyeraal-Hreidarsson syndrome [RCV001364293] | uncertain significance | 1 | 113911553 | 113911553 | Human | 1 | name |
| 155794962 | CV1858507 | single nucleotide variant | NM_022836.4(DCLRE1B):c.426A>T (p.Leu142Phe) | Dyskeratosis congenita, autosomal recessive 8 [RCV002462817] | pathogenic|not provided | 1 | 113908079 | 113908079 | Human | 1 | name |
| 155794963 | CV1858508 | single nucleotide variant | NM_022836.4(DCLRE1B):c.364C>T (p.Arg122Ter) | Dyskeratosis congenita, autosomal recessive 8 [RCV002462818] | pathogenic|not provided | 1 | 113908017 | 113908017 | Human | 1 | name |
| 155794964 | CV1858509 | single nucleotide variant | NM_022836.4(DCLRE1B):c.425T>C (p.Leu142Ser) | Dyskeratosis congenita, autosomal recessive 8 [RCV002462819] | pathogenic|not provided | 1 | 113908078 | 113908078 | Human | 1 | name |
| 155987055 | CV2234055 | single nucleotide variant | NM_022836.4(DCLRE1B):c.703A>G (p.Met235Val) | not specified [RCV004106164] | uncertain significance | 1 | 113911295 | 113911295 | Human | | name |
| 155958557 | CV2313808 | single nucleotide variant | NM_022836.4(DCLRE1B):c.694G>A (p.Val232Ile) | not specified [RCV004164136] | uncertain significance | 1 | 113911286 | 113911286 | Human | | name |
| 329386563 | CV2456094 | single nucleotide variant | NM_022836.4(DCLRE1B):c.395C>T (p.Ala132Val) | DCLRE1B-related disorder [RCV004756497]|not specified [RCV004272988] | uncertain significance | 1 | 113908048 | 113908048 | Human | 1 | name , trait , alternate_id |
| 401879994 | CV2765131 | single nucleotide variant | NM_022836.4(DCLRE1B):c.509G>A (p.Arg170Gln) | not specified [RCV004339668] | uncertain significance | 1 | 113908162 | 113908162 | Human | | name |
| 401870122 | CV2772624 | single nucleotide variant | NM_022836.4(DCLRE1B):c.473G>A (p.Arg158Gln) | not specified [RCV004355373] | likely benign | 1 | 113908126 | 113908126 | Human | | name |
| 405691355 | CV3243293 | single nucleotide variant | NM_022836.4(DCLRE1B):c.760A>G (p.Ile254Val) | not specified [RCV004373375] | uncertain significance | 1 | 113911352 | 113911352 | Human | | name |
| 405691361 | CV3243294 | single nucleotide variant | NM_022836.4(DCLRE1B):c.977A>T (p.Tyr326Phe) | not specified [RCV004373376] | uncertain significance | 1 | 113911569 | 113911569 | Human | | name |
| 407458164 | CV3430333 | single nucleotide variant | NM_022836.4(DCLRE1B):c.932G>T (p.Ser311Ile) | not specified [RCV004611434] | uncertain significance | 1 | 113911524 | 113911524 | Human | | name |
| 597800994 | CV3652147 | single nucleotide variant | NM_022836.4(DCLRE1B):c.898C>T (p.Arg300Trp) | not specified [RCV004906005] | uncertain significance | 1 | 113911490 | 113911490 | Human | | name |
| 597801005 | CV3652153 | single nucleotide variant | NM_022836.4(DCLRE1B):c.335T>C (p.Phe112Ser) | not specified [RCV004906011] | uncertain significance | 1 | 113907141 | 113907141 | Human | | name |
| 598262424 | CV3963719 | single nucleotide variant | NM_022836.4(DCLRE1B):c.683G>A (p.Arg228His) | not specified [RCV005325380] | uncertain significance | 1 | 113911275 | 113911275 | Human | | name |
| 13609914 | CV514982 | duplication | NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) | Hoyeraal-Hreidarsson syndrome [RCV000640947] | uncertain significance | 1 | 113912047 | 113912048 | Human | 1 | name |
| 13609920 | CV514986 | single nucleotide variant | NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) | DCLRE1B-related disorder [RCV003937933]|Hoyeraal-Hreidarsson syndrome [RCV000640950] | likely benign | 1 | 113911439 | 113911439 | Human | 2 | name , trait , alternate_id |
| 13806615 | CV556556 | single nucleotide variant | NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile) | Hoyeraal-Hreidarsson syndrome [RCV000700662] | uncertain significance | 1 | 113911484 | 113911484 | Human | 1 | name |
| 13814938 | CV556851 | single nucleotide variant | NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) | Hoyeraal-Hreidarsson syndrome [RCV000705370]|not specified [RCV004026689] | uncertain significance | 1 | 113911515 | 113911515 | Human | 1 | name |
| 14724435 | CV626652 | single nucleotide variant | NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) | Hoyeraal-Hreidarsson syndrome [RCV000798393]|not specified [RCV005318528] | likely benign|uncertain significance | 1 | 113911538 | 113911538 | Human | 1 | name |
| 14712861 | CV626653 | single nucleotide variant | NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg) | Hoyeraal-Hreidarsson syndrome [RCV000793941] | uncertain significance | 1 | 113911542 | 113911542 | Human | 1 | name |
| 26898459 | CV822565 | single nucleotide variant | NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter) | Hoyeraal-Hreidarsson syndrome [RCV001037465] | uncertain significance | 1 | 113908161 | 113908161 | Human | 1 | name |
| 26899193 | CV822566 | single nucleotide variant | NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met) | DCLRE1B-related disorder [RCV004756155]|Hoyeraal-Hreidarsson syndrome [RCV001042559] | uncertain significance | 1 | 113911344 | 113911344 | Human | 2 | name , trait , alternate_id |
| 26903774 | CV822567 | single nucleotide variant | NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe) | Hoyeraal-Hreidarsson syndrome [RCV001071103] | uncertain significance | 1 | 113911425 | 113911425 | Human | 1 | name |
| 26898356 | CV822568 | single nucleotide variant | NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His) | Hoyeraal-Hreidarsson syndrome [RCV001036885]|not specified [RCV004907672] | uncertain significance | 1 | 113911440 | 113911440 | Human | 1 | name |
| 26899247 | CV822569 | single nucleotide variant | NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln) | Hoyeraal-Hreidarsson syndrome [RCV001043016]|not specified [RCV004031309] | uncertain significance | 1 | 113911521 | 113911521 | Human | 1 | name |
| 38492884 | CV921592 | single nucleotide variant | NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe) | Hoyeraal-Hreidarsson syndrome [RCV001223863] | uncertain significance | 1 | 113908030 | 113908030 | Human | 1 | name |
| 38484087 | CV921593 | single nucleotide variant | NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro) | Hoyeraal-Hreidarsson syndrome [RCV001219250] | uncertain significance | 1 | 113908047 | 113908047 | Human | 1 | name |
| 38477569 | CV921594 | single nucleotide variant | NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg) | Hoyeraal-Hreidarsson syndrome [RCV001216202] | uncertain significance | 1 | 113908177 | 113908177 | Human | 1 | name |
| 38485810 | CV921595 | single nucleotide variant | NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val) | Hoyeraal-Hreidarsson syndrome [RCV001220015] | uncertain significance | 1 | 113911373 | 113911373 | Human | 1 | name |
| 38486589 | CV921596 | single nucleotide variant | NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) | Hoyeraal-Hreidarsson syndrome [RCV001220370]|not specified [RCV004032390] | uncertain significance | 1 | 113911536 | 113911536 | Human | 1 | name |
| 38466015 | CV929980 | single nucleotide variant | NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln) | Hoyeraal-Hreidarsson syndrome [RCV001201802] | uncertain significance | 1 | 113911209 | 113911209 | Human | 1 | name |
| 38471657 | CV929981 | single nucleotide variant | NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg) | Hoyeraal-Hreidarsson syndrome [RCV001202897] | uncertain significance | 1 | 113911281 | 113911281 | Human | 1 | name |
| 38463775 | CV929982 | single nucleotide variant | NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His) | Hoyeraal-Hreidarsson syndrome [RCV001201472]|not provided [RCV004691386] | uncertain significance | 1 | 113911471 | 113911471 | Human | 1 | name |
| 38459385 | CV952024 | single nucleotide variant | NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp) | Hoyeraal-Hreidarsson syndrome [RCV001246543] | uncertain significance | 1 | 113908100 | 113908100 | Human | 1 | name |
| 38458116 | CV952025 | single nucleotide variant | NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln) | Hoyeraal-Hreidarsson syndrome [RCV001246235] | uncertain significance | 1 | 113911491 | 113911491 | Human | 1 | name |
| 126755150 | CV1002062 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) | Hoyeraal-Hreidarsson syndrome [RCV001316874] | uncertain significance | 1 | 113911632 | 113911632 | Human | 1 | name |
| 126755958 | CV1002063 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) | Hoyeraal-Hreidarsson syndrome [RCV001327866] | uncertain significance | 1 | 113911740 | 113911740 | Human | 1 | name |
| 126737859 | CV1002064 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met) | Hoyeraal-Hreidarsson syndrome [RCV001314036] | uncertain significance | 1 | 113911869 | 113911869 | Human | 1 | name |
| 126731010 | CV1002065 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg) | Hoyeraal-Hreidarsson syndrome [RCV001312964] | uncertain significance | 1 | 113912189 | 113912189 | Human | 1 | name |
| 126908359 | CV1039384 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val) | Hoyeraal-Hreidarsson syndrome [RCV001367774] | uncertain significance | 1 | 113912025 | 113912025 | Human | 1 | name |
| 126922025 | CV1039385 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser) | Hoyeraal-Hreidarsson syndrome [RCV001364179] | uncertain significance | 1 | 113912111 | 113912111 | Human | 1 | name |
| 151818547 | CV1390590 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) | Hoyeraal-Hreidarsson syndrome [RCV001954526] | uncertain significance | 1 | 113911939 | 113911939 | Human | 1 | name |
| 151882650 | CV1399061 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln) | Hoyeraal-Hreidarsson syndrome [RCV001961964]|not specified [RCV004040335] | likely benign|uncertain significance | 1 | 113911776 | 113911776 | Human | 1 | name |
| 156309028 | CV2249596 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1586A>G (p.His529Arg) | not specified [RCV004120612] | uncertain significance | 1 | 113912178 | 113912178 | Human | | name |
| 156184393 | CV2324581 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1448T>C (p.Leu483Pro) | not specified [RCV004179341] | likely benign | 1 | 113912040 | 113912040 | Human | | name |
| 155929962 | CV2389274 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1444C>T (p.Pro482Ser) | not specified [RCV004235591] | uncertain significance | 1 | 113912036 | 113912036 | Human | | name |
| 401729975 | CV2700332 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1342A>T (p.Arg448Trp) | not specified [RCV004310990] | uncertain significance | 1 | 113911934 | 113911934 | Human | | name |
| 401770361 | CV2711108 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1070C>T (p.Pro357Leu) | not specified [RCV004310791] | likely benign | 1 | 113911662 | 113911662 | Human | | name |
| 401897015 | CV2785501 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1272G>T (p.Met424Ile) | not specified [RCV004363029] | uncertain significance | 1 | 113911864 | 113911864 | Human | | name |
| 405691326 | CV3243288 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1177C>T (p.Pro393Ser) | not specified [RCV004373370] | uncertain significance | 1 | 113911769 | 113911769 | Human | | name |
| 407458161 | CV3430332 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1504C>T (p.Leu502Phe) | not specified [RCV004611433] | uncertain significance | 1 | 113912096 | 113912096 | Human | | name |
| 407458169 | CV3430335 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1174C>T (p.His392Tyr) | not specified [RCV004611436] | uncertain significance | 1 | 113911766 | 113911766 | Human | | name |
| 597800998 | CV3652149 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1186A>T (p.Ile396Phe) | not specified [RCV004906007] | uncertain significance | 1 | 113911778 | 113911778 | Human | | name |
| 597801001 | CV3652151 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1153C>A (p.Leu385Ile) | not specified [RCV004906009] | uncertain significance | 1 | 113911745 | 113911745 | Human | | name |
| 598262429 | CV3963720 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1057G>C (p.Val353Leu) | not specified [RCV005325381] | uncertain significance | 1 | 113911649 | 113911649 | Human | | name |
| 13609908 | CV515020 | microsatellite | NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del) | Hoyeraal-Hreidarsson syndrome [RCV000640944] | uncertain significance | 1 | 113905663 | 113905665 | Human | | name |
| 13609916 | CV515047 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) | Hoyeraal-Hreidarsson syndrome [RCV000640948] | benign | 1 | 113911976 | 113911976 | Human | 1 | name |
| 13609918 | CV515052 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) | DCLRE1B-related disorder [RCV003905730]|Hoyeraal-Hreidarsson syndrome [RCV000640949]|not provided [RCV004715324] | benign | 1 | 113912120 | 113912120 | Human | 2 | name , trait , alternate_id |
| 13814321 | CV556558 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) | Hoyeraal-Hreidarsson syndrome [RCV000704958] | uncertain significance | 1 | 113912053 | 113912053 | Human | 1 | name |
| 13810285 | CV556591 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) | Hoyeraal-Hreidarsson syndrome [RCV000702496]|not specified [RCV004026596] | uncertain significance | 1 | 113911848 | 113911848 | Human | 1 | name |
| 14739805 | CV626654 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg) | Hoyeraal-Hreidarsson syndrome [RCV000821514]|not specified [RCV004029072] | uncertain significance | 1 | 113911755 | 113911755 | Human | 1 | name |
| 14736670 | CV626655 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) | Hoyeraal-Hreidarsson syndrome [RCV000803706] | uncertain significance | 1 | 113911775 | 113911775 | Human | 1 | name |
| 14712278 | CV626656 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) | Hoyeraal-Hreidarsson syndrome [RCV000793746]|not specified [RCV004027455] | uncertain significance | 1 | 113911845 | 113911845 | Human | 1 | name |
| 26899454 | CV822571 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) | Hoyeraal-Hreidarsson syndrome [RCV001044361] | uncertain significance | 1 | 113911596 | 113911596 | Human | 1 | name |
| 26898001 | CV822572 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala) | Hoyeraal-Hreidarsson syndrome [RCV001035139] | uncertain significance | 1 | 113911650 | 113911650 | Human | 1 | name |
| 26900777 | CV822573 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp) | Hoyeraal-Hreidarsson syndrome [RCV001053843] | uncertain significance | 1 | 113911773 | 113911773 | Human | 1 | name |
| 26898301 | CV822574 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) | Hoyeraal-Hreidarsson syndrome [RCV001036547] | uncertain significance | 1 | 113911967 | 113911967 | Human | 1 | name |
| 38478758 | CV921597 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) | Hoyeraal-Hreidarsson syndrome [RCV001216754] | uncertain significance | 1 | 113911780 | 113911780 | Human | 1 | name |
| 38484630 | CV941394 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser) | Hoyeraal-Hreidarsson syndrome [RCV001236447] | uncertain significance | 1 | 113911931 | 113911931 | Human | 1 | name |
| 38498263 | CV941395 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg) | Hoyeraal-Hreidarsson syndrome [RCV001227666] | uncertain significance | 1 | 113911952 | 113911952 | Human | 1 | name |
| 126732983 | CV986835 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) | Hoyeraal-Hreidarsson syndrome [RCV001304187] | uncertain significance | 1 | 113911685 | 113911685 | Human | 1 | name |
| 126756890 | CV986836 | single nucleotide variant | NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala) | Hoyeraal-Hreidarsson syndrome [RCV001308251] | uncertain significance | 1 | 113911830 | 113911830 | Human | 1 | name |
