| 13519552 | CV492204 | single nucleotide variant | NM_001966.4(EHHADH):c.*8T>C | not provided [RCV000597990] | uncertain significance | 3 | 185192218 | 185192218 | Human | | name |
| 405277616 | CV3195937 | single nucleotide variant | NM_001966.4(EHHADH):c.*10C>T | EHHADH-related disorder [RCV003904461] | likely benign | 3 | 185192216 | 185192216 | Human | | name , trait , alternate_id |
| 150485696 | CV1262148 | single nucleotide variant | NM_001966.4(EHHADH):c.463+8T>C | not provided [RCV001686839] | benign | 3 | 185229424 | 185229424 | Human | | name |
| 13515741 | CV494183 | single nucleotide variant | NM_001966.4(EHHADH):c.179-5C>T | not provided [RCV000594665] | uncertain significance | 3 | 185235467 | 185235467 | Human | | name |
| 13835610 | CV586872 | single nucleotide variant | NM_001966.4(EHHADH):c.178+4A>G | not provided [RCV000731463] | uncertain significance | 3 | 185248410 | 185248410 | Human | | name |
| 15190917 | CV777366 | single nucleotide variant | NM_001966.4(EHHADH):c.910+7C>A | Cholestasis [RCV003447568]|not provided [RCV000954620] | benign|likely benign | 3 | 185204409 | 185204409 | Human | 2 | name |
| 150468468 | CV1218917 | single nucleotide variant | NM_001966.4(EHHADH):c.75-333A>G | not provided [RCV001614669] | benign | 3 | 185248850 | 185248850 | Human | | name |
| 150439750 | CV1221351 | single nucleotide variant | NM_001966.4(EHHADH):c.75-253A>C | not provided [RCV001610046] | benign | 3 | 185248770 | 185248770 | Human | | name |
| 150516122 | CV1228245 | single nucleotide variant | NM_001966.4(EHHADH):c.74+229C>T | not provided [RCV001639051] | benign | 3 | 185253720 | 185253720 | Human | | name |
| 150513000 | CV1228865 | single nucleotide variant | NM_001966.4(EHHADH):c.352-91T>C | not provided [RCV001637707] | benign | 3 | 185229634 | 185229634 | Human | | name |
| 150444355 | CV1249405 | single nucleotide variant | NM_001966.4(EHHADH):c.75-119T>G | not provided [RCV001666837] | benign | 3 | 185248636 | 185248636 | Human | | name |
| 150507370 | CV1256916 | single nucleotide variant | NM_001966.4(EHHADH):c.75-279G>A | not provided [RCV001678419] | benign | 3 | 185248796 | 185248796 | Human | | name |
| 150467630 | CV1220049 | single nucleotide variant | NM_001966.4(EHHADH):c.463+225G>A | not provided [RCV001614540] | benign | 3 | 185229207 | 185229207 | Human | | name |
| 150483948 | CV1222389 | deletion | NM_001966.4(EHHADH):c.910+257del | not provided [RCV001617392] | benign | 3 | 185204159 | 185204159 | Human | | name |
| 150517177 | CV1227915 | single nucleotide variant | NM_001966.4(EHHADH):c.568+117T>G | not provided [RCV001639719] | benign | 3 | 185218019 | 185218019 | Human | | name |
| 150430122 | CV1231997 | single nucleotide variant | NM_001966.4(EHHADH):c.568+216T>A | not provided [RCV001641259] | benign | 3 | 185217920 | 185217920 | Human | | name |
| 150497351 | CV1237008 | single nucleotide variant | NM_001966.4(EHHADH):c.352-295A>G | not provided [RCV001656072] | benign | 3 | 185229838 | 185229838 | Human | | name |
| 150458164 | CV1260242 | single nucleotide variant | NM_001966.4(EHHADH):c.463+340C>T | not provided [RCV001681722] | benign | 3 | 185229092 | 185229092 | Human | | name |
| 150448114 | CV1275494 | single nucleotide variant | NM_001966.4(EHHADH):c.910+257C>T | not provided [RCV001707949] | benign | 3 | 185204159 | 185204159 | Human | | name |
| 150444010 | CV1277934 | single nucleotide variant | NM_001966.4(EHHADH):c.178+132G>A | not provided [RCV001707077] | benign | 3 | 185248282 | 185248282 | Human | | name |
| 405258422 | CV3203720 | microsatellite | NM_001966.4(EHHADH):c.464-20GTT[3] | EHHADH-related disorder [RCV003941905] | likely benign | 3 | 185218249 | 185218251 | Human | | name , trait , alternate_id |
| 150330625 | CV1171080 | microsatellite | NM_001966.4(EHHADH):c.74+167CTTTT[3] | not provided [RCV001538185] | benign | 3 | 185253772 | 185253773 | Human | | name |
| 405289238 | CV3194003 | single nucleotide variant | NM_001966.4(EHHADH):c.6C>T (p.Ala2=) | EHHADH-related disorder [RCV003983506] | likely benign | 3 | 185254017 | 185254017 | Human | | name , trait , alternate_id |
| 13837752 | CV589042 | single nucleotide variant | NM_001966.4(EHHADH):c.6C>G (p.Ala2=) | EHHADH-related disorder [RCV003892671]|not provided [RCV000734255] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 185254017 | 185254017 | Human | 1 | name , trait , alternate_id |
| 8643606 | CV102600 | single nucleotide variant | NM_001966.4(EHHADH):c.7G>A (p.Glu3Lys) | Fanconi renotubular syndrome 3 [RCV000082871] | pathogenic | 3 | 185254016 | 185254016 | Human | 1 | name |
| 150505407 | CV1213521 | duplication | NM_001966.4(EHHADH):c.74+173_74+174dup | not provided [RCV001595777] | benign | 3 | 185253761 | 185253762 | Human | | name |
| 13834704 | CV585953 | single nucleotide variant | NM_001966.4(EHHADH):c.60G>A (p.Pro20=) | not provided [RCV000730288] | uncertain significance | 3 | 185253963 | 185253963 | Human | | name |
| 13836128 | CV587398 | single nucleotide variant | NM_001966.4(EHHADH):c.78G>A (p.Thr26=) | EHHADH-related disorder [RCV003947939]|not provided [RCV000732137] | likely benign|uncertain significance | 3 | 185248514 | 185248514 | Human | 1 | name , trait , alternate_id |
| 13837671 | CV588961 | single nucleotide variant | NM_001966.4(EHHADH):c.30C>T (p.Ala10=) | not provided [RCV000734159] | uncertain significance | 3 | 185253993 | 185253993 | Human | | name |
| 126912453 | CV1037342 | single nucleotide variant | NM_001966.4(EHHADH):c.22C>T (p.His8Tyr) | EHHADH-related disorder [RCV003953684]|not provided [RCV001356531]|not specified [RCV004034464] | uncertain significance | 3 | 185254001 | 185254001 | Human | 1 | name , trait , alternate_id |
| 329388403 | CV2437377 | single nucleotide variant | NM_001966.4(EHHADH):c.27C>G (p.Asn9Lys) | not specified [RCV004256247] | uncertain significance | 3 | 185253996 | 185253996 | Human | | name |
| 405289314 | CV3218144 | single nucleotide variant | NM_001966.4(EHHADH):c.234T>C (p.His78=) | EHHADH-related disorder [RCV003983546] | likely benign | 3 | 185235407 | 185235407 | Human | | name , trait , alternate_id |
| 405265738 | CV3220817 | single nucleotide variant | NM_001966.4(EHHADH):c.120A>G (p.Val40=) | EHHADH-related disorder [RCV003968991] | likely benign | 3 | 185248472 | 185248472 | Human | | name , trait , alternate_id |
| 13517664 | CV494203 | single nucleotide variant | NM_001966.4(EHHADH):c.144T>C (p.Ile48=) | EHHADH-related disorder [RCV003915741]|not provided [RCV000596720] | likely benign|uncertain significance | 3 | 185248448 | 185248448 | Human | 1 | name , trait , alternate_id |
| 243063806 | CV2405322 | single nucleotide variant | NM_001966.4(EHHADH):c.42C>G (p.Ile14Met) | Fanconi renotubular syndrome 3 [RCV003142401] | uncertain significance | 3 | 185253981 | 185253981 | Human | 1 | name |
| 405262701 | CV3189390 | single nucleotide variant | NM_001966.4(EHHADH):c.519A>G (p.Val173=) | EHHADH-related disorder [RCV003896624] | likely benign | 3 | 185218185 | 185218185 | Human | | name , trait , alternate_id |
| 405264273 | CV3189970 | single nucleotide variant | NM_001966.4(EHHADH):c.741G>A (p.Val247=) | EHHADH-related disorder [RCV003897014] | likely benign | 3 | 185204585 | 185204585 | Human | | name , trait , alternate_id |
| 405277657 | CV3196024 | single nucleotide variant | NM_001966.4(EHHADH):c.819C>T (p.Phe273=) | EHHADH-related disorder [RCV003904543]|not provided [RCV004810576] | likely benign | 3 | 185204507 | 185204507 | Human | 1 | name , trait , alternate_id |
| 405271434 | CV3202857 | single nucleotide variant | NM_001966.4(EHHADH):c.984G>A (p.Ser328=) | EHHADH-related disorder [RCV003913920] | likely benign | 3 | 185193414 | 185193414 | Human | | name , trait , alternate_id |
| 405260739 | CV3204263 | single nucleotide variant | NM_001966.4(EHHADH):c.778T>C (p.Leu260=) | EHHADH-related disorder [RCV003944108] | likely benign | 3 | 185204548 | 185204548 | Human | | name , trait , alternate_id |
| 405294904 | CV3214982 | single nucleotide variant | NM_001966.4(EHHADH):c.789G>C (p.Gly263=) | EHHADH-related disorder [RCV003936837] | likely benign | 3 | 185204537 | 185204537 | Human | | name , trait , alternate_id |
| 405718044 | CV3241897 | single nucleotide variant | NM_001966.4(EHHADH):c.73A>G (p.Ser25Gly) | not specified [RCV004377634] | uncertain significance | 3 | 185253950 | 185253950 | Human | | name |
| 407498658 | CV3438036 | single nucleotide variant | NM_001966.4(EHHADH):c.68C>G (p.Ala23Gly) | not specified [RCV004622523] | uncertain significance | 3 | 185253955 | 185253955 | Human | | name |
| 408374902 | CV3508085 | single nucleotide variant | NM_001966.4(EHHADH):c.444A>C (p.Ala148=) | EHHADH-related disorder [RCV004747552] | likely benign | 3 | 185229451 | 185229451 | Human | | name , trait , alternate_id |
| 598178550 | CV3961252 | single nucleotide variant | NM_001966.4(EHHADH):c.54C>G (p.Asn18Lys) | not specified [RCV005332354] | uncertain significance | 3 | 185253969 | 185253969 | Human | | name |
| 13524125 | CV492847 | single nucleotide variant | NM_001966.4(EHHADH):c.630C>T (p.Asp210=) | not provided [RCV000593872] | uncertain significance | 3 | 185204696 | 185204696 | Human | | name |
| 13515664 | CV492931 | single nucleotide variant | NM_001966.4(EHHADH):c.882G>A (p.Ala294=) | not provided [RCV000594570] | uncertain significance | 3 | 185204444 | 185204444 | Human | | name |
| 13833429 | CV584663 | single nucleotide variant | NM_001966.4(EHHADH):c.49C>T (p.Arg17Ter) | not provided [RCV000728692] | uncertain significance | 3 | 185253974 | 185253974 | Human | | name |
| 13833802 | CV585042 | single nucleotide variant | NM_001966.4(EHHADH):c.28G>A (p.Ala10Thr) | not provided [RCV000729168] | uncertain significance | 3 | 185253995 | 185253995 | Human | | name |
| 13834096 | CV585338 | single nucleotide variant | NM_001966.4(EHHADH):c.855C>T (p.Ser285=) | not provided [RCV000729532] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 185204471 | 185204471 | Human | | name |
| 13834213 | CV585457 | single nucleotide variant | NM_001966.4(EHHADH):c.450C>T (p.Asp150=) | EHHADH-related disorder [RCV003947922]|not provided [RCV000917614]|not specified [RCV000729665] | benign|likely benign | 3 | 185229445 | 185229445 | Human | 1 | name , trait , alternate_id |
| 13834939 | CV586190 | single nucleotide variant | NM_001966.4(EHHADH):c.411G>A (p.Gln137=) | EHHADH-related disorder [RCV003953314]|not provided [RCV000730594] | likely benign|uncertain significance | 3 | 185229484 | 185229484 | Human | 1 | name , trait , alternate_id |
| 13835430 | CV586688 | single nucleotide variant | NM_001966.4(EHHADH):c.621C>G (p.Pro207=) | EHHADH-related disorder [RCV003965527]|not provided [RCV000731231] | likely benign|uncertain significance | 3 | 185204705 | 185204705 | Human | 1 | name , trait , alternate_id |
| 13835663 | CV586925 | single nucleotide variant | NM_001966.4(EHHADH):c.77C>T (p.Thr26Met) | EHHADH-related disorder [RCV003928235]|not provided [RCV000731537]|not specified [RCV004027010] | likely benign|uncertain significance | 3 | 185248515 | 185248515 | Human | 1 | name , trait , alternate_id |
| 13835699 | CV586961 | single nucleotide variant | NM_001966.4(EHHADH):c.726G>A (p.Gln242=) | not provided [RCV000731582] | uncertain significance | 3 | 185204600 | 185204600 | Human | | name |
| 13838017 | CV589316 | single nucleotide variant | NM_001966.4(EHHADH):c.345C>T (p.His115=) | not provided [RCV000734598] | uncertain significance | 3 | 185235296 | 185235296 | Human | | name |
| 13838191 | CV589489 | single nucleotide variant | NM_001966.4(EHHADH):c.984G>T (p.Ser328=) | not provided [RCV000734813] | uncertain significance | 3 | 185193414 | 185193414 | Human | | name |
| 13838280 | CV589580 | single nucleotide variant | NM_001966.4(EHHADH):c.46C>T (p.Leu16Phe) | not provided [RCV000734928]|not specified [RCV004027098] | uncertain significance | 3 | 185253977 | 185253977 | Human | | name |
| 15184063 | CV708711 | single nucleotide variant | NM_001966.4(EHHADH):c.861A>G (p.Ala287=) | not provided [RCV000975023] | benign | 3 | 185204465 | 185204465 | Human | | name |
| 15190704 | CV733945 | single nucleotide variant | NM_001966.4(EHHADH):c.690G>A (p.Gln230=) | not provided [RCV000910029] | likely benign | 3 | 185204636 | 185204636 | Human | | name |
| 15174784 | CV763776 | single nucleotide variant | NM_001966.4(EHHADH):c.783A>G (p.Gln261=) | EHHADH-related disorder [RCV003978073]|not provided [RCV000928516] | benign|likely benign | 3 | 185204543 | 185204543 | Human | 1 | name , trait , alternate_id |
| 401933654 | CV2800405 | single nucleotide variant | NM_001966.4(EHHADH):c.126C>A (p.Asp42Glu) | EHHADH-related disorder [RCV003410391]|Fanconi renotubular syndrome 3 [RCV005399360] | uncertain significance | 3 | 185248466 | 185248466 | Human | 1 | name , trait , alternate_id |
| 405259810 | CV3195181 | single nucleotide variant | NM_001966.4(EHHADH):c.1920T>C (p.Ala640=) | EHHADH-related disorder [RCV003894377] | likely benign | 3 | 185192478 | 185192478 | Human | | name , trait , alternate_id |
| 405274844 | CV3199794 | single nucleotide variant | NM_001966.4(EHHADH):c.118G>A (p.Val40Ile) | EHHADH-related disorder [RCV003973850] | uncertain significance | 3 | 185248474 | 185248474 | Human | | name , trait , alternate_id |
| 405271183 | CV3209341 | single nucleotide variant | NM_001966.4(EHHADH):c.1200C>T (p.Cys400=) | EHHADH-related disorder [RCV003949682] | likely benign | 3 | 185193198 | 185193198 | Human | | name , trait , alternate_id |
| 405260930 | CV3215532 | single nucleotide variant | NM_001966.4(EHHADH):c.1662T>G (p.Gly554=) | EHHADH-related disorder [RCV003944269] | likely benign | 3 | 185192736 | 185192736 | Human | | name , trait , alternate_id |
| 405271438 | CV3219081 | single nucleotide variant | NM_001966.4(EHHADH):c.1773A>G (p.Lys591=) | EHHADH-related disorder [RCV003971789] | likely benign | 3 | 185192625 | 185192625 | Human | | name , trait , alternate_id |
| 405279084 | CV3220553 | single nucleotide variant | NM_001966.4(EHHADH):c.1056A>G (p.Gln352=) | EHHADH-related disorder [RCV003976729] | likely benign | 3 | 185193342 | 185193342 | Human | | name , trait , alternate_id |
| 405853871 | CV3393707 | single nucleotide variant | NM_001966.4(EHHADH):c.1572T>G (p.Leu524=) | not provided [RCV004546933] | likely benign | 3 | 185192826 | 185192826 | Human | | name |
| 407498649 | CV3438034 | single nucleotide variant | NM_001966.4(EHHADH):c.263A>G (p.Lys88Arg) | not specified [RCV004622521] | uncertain significance | 3 | 185235378 | 185235378 | Human | | name |
| 408374067 | CV3514176 | single nucleotide variant | NM_001966.4(EHHADH):c.1756T>C (p.Leu586=) | EHHADH-related disorder [RCV004745946] | likely benign | 3 | 185192642 | 185192642 | Human | | name , trait , alternate_id |
| 408374392 | CV3516169 | single nucleotide variant | NM_001966.4(EHHADH):c.1743A>G (p.Gln581=) | EHHADH-related disorder [RCV004746738] | likely benign | 3 | 185192655 | 185192655 | Human | | name , trait , alternate_id |
| 13516808 | CV491753 | single nucleotide variant | NM_001966.4(EHHADH):c.2094A>G (p.Leu698=) | EHHADH-related disorder [RCV003945408]|not provided [RCV000595988] | likely benign|uncertain significance | 3 | 185192304 | 185192304 | Human | 1 | name , trait , alternate_id |
| 13523432 | CV491809 | single nucleotide variant | NM_001966.4(EHHADH):c.1563G>A (p.Val521=) | EHHADH-related disorder [RCV003915721]|not provided [RCV000592984] | likely benign|uncertain significance | 3 | 185192835 | 185192835 | Human | 1 | name , trait , alternate_id |
| 13522580 | CV492000 | single nucleotide variant | NM_001966.4(EHHADH):c.1305G>A (p.Ser435=) | not provided [RCV000591914] | uncertain significance | 3 | 185193093 | 185193093 | Human | | name |
| 13522009 | CV492292 | single nucleotide variant | NM_001966.4(EHHADH):c.1068C>T (p.His356=) | EHHADH-related disorder [RCV003952985]|not provided [RCV000591188] | likely benign|uncertain significance | 3 | 185193330 | 185193330 | Human | 1 | name , trait , alternate_id |
| 13523424 | CV493069 | single nucleotide variant | NM_001966.4(EHHADH):c.265C>G (p.Pro89Ala) | not provided [RCV000592974]|not specified [RCV004024824] | uncertain significance | 3 | 185235376 | 185235376 | Human | | name |
| 13516204 | CV493105 | single nucleotide variant | NM_001966.4(EHHADH):c.1608G>A (p.Gly536=) | EHHADH-related disorder [RCV003962721]|not provided [RCV000595226] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 185192790 | 185192790 | Human | 1 | name , trait , alternate_id |
| 13516567 | CV493371 | single nucleotide variant | NM_001966.4(EHHADH):c.143T>C (p.Ile48Thr) | not provided [RCV000595687] | uncertain significance | 3 | 185248449 | 185248449 | Human | | name |
| 13515249 | CV493957 | single nucleotide variant | NM_001966.4(EHHADH):c.268G>A (p.Val90Met) | not specified [RCV000594046] | likely benign | 3 | 185235373 | 185235373 | Human | | name |
| 13832467 | CV582962 | deletion | NM_001966.4(EHHADH):c.586del (p.Arg196fs) | not provided [RCV000723156] | uncertain significance | 3 | 185204740 | 185204740 | Human | | name |
| 13833839 | CV585079 | single nucleotide variant | NM_001966.4(EHHADH):c.199A>C (p.Ser67Arg) | not provided [RCV000729210] | uncertain significance | 3 | 185235442 | 185235442 | Human | | name |
| 13833949 | CV585189 | single nucleotide variant | NM_001966.4(EHHADH):c.191G>A (p.Arg64His) | EHHADH-related disorder [RCV003953302]|not specified [RCV000729341] | likely benign | 3 | 185235450 | 185235450 | Human | 1 | name , trait , alternate_id |
| 13834816 | CV586066 | single nucleotide variant | NM_001966.4(EHHADH):c.1194T>C (p.Ala398=) | EHHADH-related disorder [RCV003908038]|not specified [RCV000730428] | likely benign | 3 | 185193204 | 185193204 | Human | 1 | name , trait , alternate_id |
| 13835161 | CV586418 | single nucleotide variant | NM_001966.4(EHHADH):c.1578G>A (p.Gly526=) | not provided [RCV000730882] | uncertain significance | 3 | 185192820 | 185192820 | Human | | name |
| 13835527 | CV586787 | single nucleotide variant | NM_001966.4(EHHADH):c.190C>T (p.Arg64Cys) | EHHADH-related disorder [RCV003420304]|not provided [RCV000731358] | uncertain significance | 3 | 185235451 | 185235451 | Human | 1 | name , trait , alternate_id |
| 13835691 | CV586953 | single nucleotide variant | NM_001966.4(EHHADH):c.1674C>T (p.Tyr558=) | not provided [RCV000731574] | uncertain significance | 3 | 185192724 | 185192724 | Human | | name |
| 13836954 | CV588237 | single nucleotide variant | NM_001966.4(EHHADH):c.199A>G (p.Ser67Gly) | not provided [RCV000733216] | uncertain significance | 3 | 185235442 | 185235442 | Human | | name |
| 15175608 | CV720333 | single nucleotide variant | NM_001966.4(EHHADH):c.1908A>G (p.Gly636=) | not provided [RCV000884407] | benign | 3 | 185192490 | 185192490 | Human | | name |
| 15184751 | CV733946 | single nucleotide variant | NM_001966.4(EHHADH):c.121A>G (p.Ile41Val) | not provided [RCV000908349] | benign | 3 | 185248471 | 185248471 | Human | | name |
| 15112291 | CV748142 | single nucleotide variant | NM_001966.4(EHHADH):c.1983C>T (p.Gly661=) | EHHADH-related disorder [RCV003970439]|not provided [RCV000916886] | likely benign | 3 | 185192415 | 185192415 | Human | 1 | name , trait , alternate_id |
| 15202198 | CV763774 | single nucleotide variant | NM_001966.4(EHHADH):c.1413C>T (p.Val471=) | not provided [RCV000935877] | likely benign | 3 | 185192985 | 185192985 | Human | | name |
| 150490339 | CV1251009 | single nucleotide variant | NM_001966.4(EHHADH):c.820G>A (p.Ala274Thr) | not provided [RCV001674676] | benign | 3 | 185204506 | 185204506 | Human | | name |
| 151348155 | CV1322423 | single nucleotide variant | NM_001966.4(EHHADH):c.734A>G (p.Tyr245Cys) | Fanconi renotubular syndrome 3 [RCV001804219] | uncertain significance | 3 | 185204592 | 185204592 | Human | 1 | name |
| 156114065 | CV2349172 | single nucleotide variant | NM_001966.4(EHHADH):c.305G>T (p.Gly102Val) | not specified [RCV004199131] | uncertain significance | 3 | 185235336 | 185235336 | Human | | name |
| 156067598 | CV2356698 | single nucleotide variant | NM_001966.4(EHHADH):c.662G>A (p.Arg221Gln) | not specified [RCV004202052] | likely benign | 3 | 185204664 | 185204664 | Human | | name |
| 156013149 | CV2359030 | single nucleotide variant | NM_001966.4(EHHADH):c.586C>T (p.Arg196Cys) | not specified [RCV004212354] | uncertain significance | 3 | 185204740 | 185204740 | Human | | name |
| 156258668 | CV2395406 | single nucleotide variant | NM_001966.4(EHHADH):c.932G>A (p.Gly311Asp) | not specified [RCV004241282] | uncertain significance | 3 | 185193466 | 185193466 | Human | | name |
| 401870395 | CV2765933 | single nucleotide variant | NM_001966.4(EHHADH):c.703C>T (p.Arg235Cys) | EHHADH-related disorder [RCV003946500]|not specified [RCV004337959] | likely benign|uncertain significance | 3 | 185204623 | 185204623 | Human | 1 | name , trait , alternate_id |
| 401919175 | CV2794785 | duplication | NM_001966.4(EHHADH):c.2100dup (p.Leu701fs) | not specified [RCV003388460] | uncertain significance | 3 | 185192297 | 185192298 | Human | | name |
| 401933555 | CV2801910 | single nucleotide variant | NM_001966.4(EHHADH):c.907G>A (p.Val303Ile) | EHHADH-related disorder [RCV003410428]|not specified [RCV005333593] | likely benign|uncertain significance | 3 | 185204419 | 185204419 | Human | 1 | name , trait , alternate_id |
| 405261711 | CV3186235 | single nucleotide variant | NM_001966.4(EHHADH):c.856G>A (p.Gly286Arg) | not provided [RCV003885311]|not specified [RCV005325883] | likely benign|uncertain significance | 3 | 185204470 | 185204470 | Human | | name |
| 405286611 | CV3192862 | single nucleotide variant | NM_001966.4(EHHADH):c.481G>C (p.Asp161His) | EHHADH-related disorder [RCV003981580] | uncertain significance | 3 | 185218223 | 185218223 | Human | | name , trait , alternate_id |
| 405291682 | CV3206007 | single nucleotide variant | NM_001966.4(EHHADH):c.883C>T (p.Arg295Trp) | EHHADH-related disorder [RCV003964102] | likely benign | 3 | 185204443 | 185204443 | Human | | name , trait , alternate_id |
| 405718025 | CV3241895 | single nucleotide variant | NM_001966.4(EHHADH):c.398C>A (p.Ala133Glu) | not specified [RCV004377632] | uncertain significance | 3 | 185229497 | 185229497 | Human | | name |
| 405718038 | CV3241896 | single nucleotide variant | NM_001966.4(EHHADH):c.445C>G (p.Leu149Val) | not specified [RCV004377633] | uncertain significance | 3 | 185229450 | 185229450 | Human | | name |
| 405718057 | CV3241898 | single nucleotide variant | NM_001966.4(EHHADH):c.839A>G (p.Lys280Arg) | not specified [RCV004377635] | uncertain significance | 3 | 185204487 | 185204487 | Human | | name |
| 405718069 | CV3241899 | single nucleotide variant | NM_001966.4(EHHADH):c.929G>A (p.Arg310Gln) | not specified [RCV004377636] | uncertain significance | 3 | 185193469 | 185193469 | Human | | name |
| 405718079 | CV3241900 | single nucleotide variant | NM_001966.4(EHHADH):c.931G>T (p.Gly311Cys) | EHHADH-related disorder [RCV004747414]|not specified [RCV004377637] | uncertain significance | 3 | 185193467 | 185193467 | Human | 1 | name , trait , alternate_id |
| 405718084 | CV3241901 | single nucleotide variant | NM_001966.4(EHHADH):c.971T>G (p.Ile324Ser) | not specified [RCV004377638] | uncertain significance | 3 | 185193427 | 185193427 | Human | | name |
| 407498642 | CV3438032 | single nucleotide variant | NM_001966.4(EHHADH):c.816C>A (p.Phe272Leu) | not specified [RCV004622519] | uncertain significance | 3 | 185204510 | 185204510 | Human | | name |
| 407498654 | CV3438035 | single nucleotide variant | NM_001966.4(EHHADH):c.411G>C (p.Gln137His) | not specified [RCV004622522] | uncertain significance | 3 | 185229484 | 185229484 | Human | | name |
| 407498667 | CV3438038 | single nucleotide variant | NM_001966.4(EHHADH):c.332A>G (p.Tyr111Cys) | not specified [RCV004622525] | uncertain significance | 3 | 185235309 | 185235309 | Human | | name |
| 408379128 | CV3503998 | single nucleotide variant | NM_001966.4(EHHADH):c.863C>T (p.Ser288Leu) | EHHADH-related disorder [RCV004728221] | uncertain significance | 3 | 185204463 | 185204463 | Human | | name , trait , alternate_id |
| 408376168 | CV3505604 | single nucleotide variant | NM_001966.4(EHHADH):c.463G>C (p.Gly155Arg) | EHHADH-related disorder [RCV004726592] | uncertain significance | 3 | 185229432 | 185229432 | Human | | name , trait , alternate_id |
| 408375028 | CV3509428 | single nucleotide variant | NM_001966.4(EHHADH):c.843G>A (p.Trp281Ter) | EHHADH-related disorder [RCV004747721] | uncertain significance | 3 | 185204483 | 185204483 | Human | | name , trait , alternate_id |
| 408374340 | CV3515848 | single nucleotide variant | NM_001966.4(EHHADH):c.905T>G (p.Val302Gly) | EHHADH-related disorder [RCV004746693] | uncertain significance | 3 | 185204421 | 185204421 | Human | | name , trait , alternate_id |
| 408374396 | CV3516188 | single nucleotide variant | NM_001966.4(EHHADH):c.508G>A (p.Asp170Asn) | EHHADH-related disorder [RCV004746742] | uncertain significance | 3 | 185218196 | 185218196 | Human | | name , trait , alternate_id |
| 597663818 | CV3674307 | single nucleotide variant | NM_001966.4(EHHADH):c.830A>T (p.Lys277Ile) | not specified [RCV004912224] | uncertain significance | 3 | 185204496 | 185204496 | Human | | name |
| 597663827 | CV3674308 | single nucleotide variant | NM_001966.4(EHHADH):c.828G>C (p.Arg276Ser) | not specified [RCV004912225] | uncertain significance | 3 | 185204498 | 185204498 | Human | | name |
| 597663835 | CV3674309 | single nucleotide variant | NM_001966.4(EHHADH):c.761A>G (p.Glu254Gly) | not specified [RCV004912226] | uncertain significance | 3 | 185204565 | 185204565 | Human | | name |
| 597663843 | CV3674310 | single nucleotide variant | NM_001966.4(EHHADH):c.445C>T (p.Leu149Phe) | not specified [RCV004912227] | uncertain significance | 3 | 185229450 | 185229450 | Human | | name |
| 597663852 | CV3674312 | single nucleotide variant | NM_001966.4(EHHADH):c.407C>G (p.Thr136Ser) | not specified [RCV004912228] | uncertain significance | 3 | 185229488 | 185229488 | Human | | name |
| 597746495 | CV3674313 | single nucleotide variant | NM_001966.4(EHHADH):c.637T>G (p.Phe213Val) | not specified [RCV004922706] | uncertain significance | 3 | 185204689 | 185204689 | Human | | name |
| 13524110 | CV492383 | single nucleotide variant | NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu) | EHHADH-related disorder [RCV003905546]|Fanconi renotubular syndrome 3 [RCV001255808]|not specified [RCV000593853] | benign|likely benign | 3 | 185235339 | 185235339 | Human | 1 | name , trait , alternate_id |
| 13523626 | CV492535 | single nucleotide variant | NM_001966.4(EHHADH):c.596G>T (p.Cys199Phe) | not provided [RCV000593241] | uncertain significance | 3 | 185204730 | 185204730 | Human | | name |
| 13523899 | CV493329 | single nucleotide variant | NM_001966.4(EHHADH):c.881C>T (p.Ala294Val) | EHHADH-related disorder [RCV003980109]|not provided [RCV000593576] | likely benign|uncertain significance | 3 | 185204445 | 185204445 | Human | 1 | name , trait , alternate_id |
| 13832877 | CV584102 | single nucleotide variant | NM_001966.4(EHHADH):c.353C>T (p.Ala118Val) | EHHADH-related disorder [RCV003983182]|not provided [RCV000727969]|not specified [RCV004907657] | uncertain significance | 3 | 185229542 | 185229542 | Human | 1 | name , trait , alternate_id |
| 13833993 | CV585233 | single nucleotide variant | NM_001966.4(EHHADH):c.622A>G (p.Asn208Asp) | not provided [RCV000729395] | uncertain significance | 3 | 185204704 | 185204704 | Human | | name |
| 13834330 | CV585576 | single nucleotide variant | NM_001966.4(EHHADH):c.785C>A (p.Ser262Ter) | not provided [RCV000729814] | uncertain significance | 3 | 185204541 | 185204541 | Human | | name |
| 13834496 | CV585742 | single nucleotide variant | NM_001966.4(EHHADH):c.607A>G (p.Ile203Val) | EHHADH-related disorder [RCV003420298]|not provided [RCV000730030] | uncertain significance | 3 | 185204719 | 185204719 | Human | 1 | name , trait , alternate_id |
| 13834530 | CV585778 | single nucleotide variant | NM_001966.4(EHHADH):c.908T>C (p.Val303Ala) | not provided [RCV000730070]|not specified [RCV005328378] | uncertain significance | 3 | 185204418 | 185204418 | Human | | name |
| 13834823 | CV586073 | single nucleotide variant | NM_001966.4(EHHADH):c.511A>G (p.Lys171Glu) | not provided [RCV000730435] | uncertain significance | 3 | 185218193 | 185218193 | Human | | name |
| 13834983 | CV586234 | single nucleotide variant | NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala) | EHHADH-related disorder [RCV003392568]|Fanconi renotubular syndrome 3 [RCV001843546]|not provided [RCV000730652] | likely pathogenic|uncertain significance | 3 | 185204653 | 185204653 | Human | 1 | name , trait , alternate_id |
| 13835828 | CV587091 | single nucleotide variant | NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala) | EHHADH-related disorder [RCV003980377]|not provided [RCV000731731] | likely benign|uncertain significance | 3 | 185193479 | 185193479 | Human | 1 | name , trait , alternate_id |
| 13835900 | CV587163 | single nucleotide variant | NM_001966.4(EHHADH):c.726G>T (p.Gln242His) | not provided [RCV000731821] | uncertain significance | 3 | 185204600 | 185204600 | Human | | name |
| 13835950 | CV587215 | single nucleotide variant | NM_001966.4(EHHADH):c.547A>G (p.Arg183Gly) | not provided [RCV000731896] | uncertain significance | 3 | 185218157 | 185218157 | Human | | name |
| 13836010 | CV587276 | single nucleotide variant | NM_001966.4(EHHADH):c.427A>C (p.Thr143Pro) | EHHADH-related disorder [RCV004745570]|not provided [RCV000731971] | uncertain significance | 3 | 185229468 | 185229468 | Human | 1 | name , trait , alternate_id |
| 13836745 | CV588025 | single nucleotide variant | NM_001966.4(EHHADH):c.713A>T (p.Gln238Leu) | EHHADH-related disorder [RCV003965538]|not provided [RCV000938530]|not specified [RCV000732948] | benign|likely benign | 3 | 185204613 | 185204613 | Human | 1 | name , trait , alternate_id |
| 13836843 | CV588125 | single nucleotide variant | NM_001966.4(EHHADH):c.793G>C (p.Ala265Pro) | not provided [RCV000733079] | uncertain significance | 3 | 185204533 | 185204533 | Human | | name |
| 13837037 | CV588321 | single nucleotide variant | NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu) | EHHADH-related disorder [RCV003908051]|not provided [RCV000733324] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 185193415 | 185193415 | Human | 1 | name , trait , alternate_id |
| 13837253 | CV588540 | single nucleotide variant | NM_001966.4(EHHADH):c.421A>G (p.Arg141Gly) | not provided [RCV000733615] | uncertain significance | 3 | 185229474 | 185229474 | Human | | name |
| 13837668 | CV588958 | deletion | NM_001966.4(EHHADH):c.1773del (p.Lys591fs) | not provided [RCV000734156] | uncertain significance | 3 | 185192625 | 185192625 | Human | | name |
| 13838197 | CV589495 | single nucleotide variant | NM_001966.4(EHHADH):c.298G>A (p.Gly100Arg) | not provided [RCV000734820]|not specified [RCV004027091] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 185235343 | 185235343 | Human | | name |
| 15156859 | CV697969 | single nucleotide variant | NM_001966.4(EHHADH):c.847A>G (p.Thr283Ala) | EHHADH-related disorder [RCV003933244]|not provided [RCV000946778] | benign | 3 | 185204479 | 185204479 | Human | 1 | name , trait , alternate_id |
| 15192515 | CV720334 | single nucleotide variant | NM_001966.4(EHHADH):c.763C>G (p.Leu255Val) | not provided [RCV000888683] | benign | 3 | 185204563 | 185204563 | Human | | name |
| 15168748 | CV720335 | single nucleotide variant | NM_001966.4(EHHADH):c.608T>G (p.Ile203Ser) | not provided [RCV000883128] | benign | 3 | 185204718 | 185204718 | Human | | name |
| 15138443 | CV763775 | single nucleotide variant | NM_001966.4(EHHADH):c.889G>T (p.Val297Phe) | EHHADH-related disorder [RCV003903146]|not provided [RCV000943396] | likely benign | 3 | 185204437 | 185204437 | Human | 1 | name , trait , alternate_id |
| 39456766 | CV965960 | duplication | NM_001966.4(EHHADH):c.1189dup (p.Ser397fs) | Fanconi renotubular syndrome 3 [RCV001255812] | likely benign | 3 | 185193208 | 185193209 | Human | 1 | name |
| 150463864 | CV1252583 | single nucleotide variant | NM_001966.4(EHHADH):c.2053C>A (p.Gln685Lys) | not provided [RCV001669906] | benign | 3 | 185192345 | 185192345 | Human | | name |
| 156326209 | CV2205623 | single nucleotide variant | NM_001966.4(EHHADH):c.2114G>A (p.Gly705Glu) | not specified [RCV004082538] | uncertain significance | 3 | 185192284 | 185192284 | Human | | name |
| 155976979 | CV2218660 | single nucleotide variant | NM_001966.4(EHHADH):c.1136T>C (p.Ile379Thr) | not specified [RCV004090911] | uncertain significance | 3 | 185193262 | 185193262 | Human | | name |
| 156099797 | CV2306570 | single nucleotide variant | NM_001966.4(EHHADH):c.2153C>T (p.Ser718Phe) | not specified [RCV004157176] | uncertain significance | 3 | 185192245 | 185192245 | Human | | name |
| 156106848 | CV2307718 | single nucleotide variant | NM_001966.4(EHHADH):c.2098A>C (p.Lys700Gln) | not specified [RCV004168127] | uncertain significance | 3 | 185192300 | 185192300 | Human | | name |
| 156170850 | CV2312539 | single nucleotide variant | NM_001966.4(EHHADH):c.1825A>G (p.Ile609Val) | not specified [RCV004169284] | uncertain significance | 3 | 185192573 | 185192573 | Human | | name |
| 156178488 | CV2327445 | single nucleotide variant | NM_001966.4(EHHADH):c.1294C>A (p.His432Asn) | not specified [RCV004174861] | uncertain significance | 3 | 185193104 | 185193104 | Human | | name |
| 156062380 | CV2353777 | single nucleotide variant | NM_001966.4(EHHADH):c.1615C>T (p.Leu539Phe) | not specified [RCV004201784] | uncertain significance | 3 | 185192783 | 185192783 | Human | | name |
| 155938745 | CV2365084 | single nucleotide variant | NM_001966.4(EHHADH):c.1603A>G (p.Lys535Glu) | not provided [RCV004598255]|not specified [RCV004224240] | likely benign|uncertain significance | 3 | 185192795 | 185192795 | Human | | name |
| 156082818 | CV2394833 | single nucleotide variant | NM_001966.4(EHHADH):c.1270C>T (p.Arg424Cys) | not specified [RCV004234495] | uncertain significance | 3 | 185193128 | 185193128 | Human | | name |
| 243058556 | CV2409847 | single nucleotide variant | NM_001966.4(EHHADH):c.2011G>T (p.Gly671Trp) | Fanconi renotubular syndrome 3 [RCV003147021] | uncertain significance | 3 | 185192387 | 185192387 | Human | 1 | name |
| 329389395 | CV2445021 | single nucleotide variant | NM_001966.4(EHHADH):c.1886A>G (p.Asn629Ser) | not provided [RCV005242378]|not specified [RCV004261635] | uncertain significance | 3 | 185192512 | 185192512 | Human | | name |
| 329392854 | CV2449330 | single nucleotide variant | NM_001966.4(EHHADH):c.1963G>A (p.Gly655Arg) | not specified [RCV004266498] | uncertain significance | 3 | 185192435 | 185192435 | Human | | name |
| 329394766 | CV2457639 | single nucleotide variant | NM_001966.4(EHHADH):c.1380G>T (p.Met460Ile) | not specified [RCV004269494] | uncertain significance | 3 | 185193018 | 185193018 | Human | | name |
| 401733474 | CV2682124 | single nucleotide variant | NM_001966.4(EHHADH):c.1004C>G (p.Thr335Ser) | not specified [RCV004290179] | uncertain significance | 3 | 185193394 | 185193394 | Human | | name |
| 11641187 | CV269495 | single nucleotide variant | NM_001966.4(EHHADH):c.1447C>T (p.Arg483Ter) | not provided [RCV000352408] | uncertain significance | 3 | 185192951 | 185192951 | Human | | name |
| 401864336 | CV2767879 | single nucleotide variant | NM_001966.4(EHHADH):c.2081C>T (p.Pro694Leu) | EHHADH-related disorder [RCV003395760]|not specified [RCV004345985] | uncertain significance | 3 | 185192317 | 185192317 | Human | 1 | name , trait , alternate_id |
| 401895764 | CV2778724 | single nucleotide variant | NM_001966.4(EHHADH):c.1612G>A (p.Gly538Ser) | not specified [RCV004346637] | uncertain significance | 3 | 185192786 | 185192786 | Human | | name |
| 401937665 | CV2796768 | single nucleotide variant | NM_001966.4(EHHADH):c.1294C>T (p.His432Tyr) | EHHADH-related disorder [RCV003416757] | uncertain significance | 3 | 185193104 | 185193104 | Human | | name , trait , alternate_id |
| 401913085 | CV2802976 | single nucleotide variant | NM_001966.4(EHHADH):c.1648G>A (p.Ala550Thr) | EHHADH-related disorder [RCV003427772] | uncertain significance | 3 | 185192750 | 185192750 | Human | | name , trait , alternate_id |
| 401961536 | CV2843880 | single nucleotide variant | NM_001966.4(EHHADH):c.1786C>G (p.Leu596Val) | not provided [RCV003481719] | uncertain significance | 3 | 185192612 | 185192612 | Human | | name |
| 401961561 | CV2843881 | single nucleotide variant | NM_001966.4(EHHADH):c.1652G>A (p.Arg551Gln) | EHHADH-related disorder [RCV003980958]|not provided [RCV003481720] | likely benign|uncertain significance | 3 | 185192746 | 185192746 | Human | 1 | name , trait , alternate_id |
| 401961562 | CV2843882 | single nucleotide variant | NM_001966.4(EHHADH):c.1087C>T (p.Pro363Ser) | not provided [RCV003481721] | uncertain significance | 3 | 185193311 | 185193311 | Human | | name |
| 405256084 | CV3208598 | single nucleotide variant | NM_001966.4(EHHADH):c.1651C>T (p.Arg551Ter) | EHHADH-related disorder [RCV003939671]|Fanconi renotubular syndrome 3 [RCV005392742] | likely benign|uncertain significance | 3 | 185192747 | 185192747 | Human | 1 | name , trait , alternate_id |
| 405266281 | CV3215909 | single nucleotide variant | NM_001966.4(EHHADH):c.1654A>T (p.Lys552Ter) | EHHADH-related disorder [RCV003947042] | uncertain significance | 3 | 185192744 | 185192744 | Human | | name , trait , alternate_id |
| 405288058 | CV3218063 | single nucleotide variant | NM_001966.4(EHHADH):c.1051A>T (p.Met351Leu) | EHHADH-related disorder [RCV003982187] | likely benign | 3 | 185193347 | 185193347 | Human | | name , trait , alternate_id |
| 405278046 | CV3221708 | single nucleotide variant | NM_001966.4(EHHADH):c.1732G>T (p.Gly578Cys) | EHHADH-related disorder [RCV003976306] | uncertain significance | 3 | 185192666 | 185192666 | Human | | name , trait , alternate_id |
| 405282046 | CV3224656 | single nucleotide variant | NM_001966.4(EHHADH):c.1984G>A (p.Gly662Arg) | Fanconi renotubular syndrome 3 [RCV003988991] | uncertain significance | 3 | 185192414 | 185192414 | Human | 1 | name |
| 405717979 | CV3241890 | single nucleotide variant | NM_001966.4(EHHADH):c.1850A>T (p.Asp617Val) | not specified [RCV004377627] | uncertain significance | 3 | 185192548 | 185192548 | Human | | name |
| 405717988 | CV3241891 | single nucleotide variant | NM_001966.4(EHHADH):c.1879C>T (p.Leu627Phe) | not specified [RCV004377628] | uncertain significance | 3 | 185192519 | 185192519 | Human | | name |
| 405717996 | CV3241892 | single nucleotide variant | NM_001966.4(EHHADH):c.1897C>G (p.Arg633Gly) | not specified [RCV004377629] | uncertain significance | 3 | 185192501 | 185192501 | Human | | name |
| 405718006 | CV3241893 | single nucleotide variant | NM_001966.4(EHHADH):c.1934A>G (p.His645Arg) | not specified [RCV004377630] | uncertain significance | 3 | 185192464 | 185192464 | Human | | name |
| 405718016 | CV3241894 | single nucleotide variant | NM_001966.4(EHHADH):c.2142C>A (p.Ser714Arg) | not specified [RCV004377631] | uncertain significance | 3 | 185192256 | 185192256 | Human | | name |
| 407498646 | CV3438033 | single nucleotide variant | NM_001966.4(EHHADH):c.1297T>A (p.Phe433Ile) | not specified [RCV004622520] | uncertain significance | 3 | 185193101 | 185193101 | Human | | name |
| 407498662 | CV3438037 | single nucleotide variant | NM_001966.4(EHHADH):c.2026C>A (p.Leu676Ile) | not specified [RCV004622524] | uncertain significance | 3 | 185192372 | 185192372 | Human | | name |
| 407498670 | CV3438039 | single nucleotide variant | NM_001966.4(EHHADH):c.2059C>A (p.Pro687Thr) | not specified [RCV004622526] | uncertain significance | 3 | 185192339 | 185192339 | Human | | name |
| 407498675 | CV3438040 | single nucleotide variant | NM_001966.4(EHHADH):c.1768C>T (p.His590Tyr) | not specified [RCV004622527] | uncertain significance | 3 | 185192630 | 185192630 | Human | | name |
| 408375099 | CV3509937 | single nucleotide variant | NM_001966.4(EHHADH):c.1411G>C (p.Val471Leu) | EHHADH-related disorder [RCV004747791] | uncertain significance | 3 | 185192987 | 185192987 | Human | | name , trait , alternate_id |
| 408374043 | CV3514086 | single nucleotide variant | NM_001966.4(EHHADH):c.2120C>T (p.Pro707Leu) | EHHADH-related disorder [RCV004745930] | uncertain significance | 3 | 185192278 | 185192278 | Human | | name , trait , alternate_id |
| 408374636 | CV3517674 | microsatellite | NM_001966.4(EHHADH):c.98AAG[1] (p.Glu34del) | EHHADH-related disorder [RCV004746966] | uncertain significance | 3 | 185248489 | 185248491 | Human | | name , trait , alternate_id |
| 597746490 | CV3674311 | single nucleotide variant | NM_001966.4(EHHADH):c.1642A>G (p.Thr548Ala) | not specified [RCV004922705] | uncertain significance | 3 | 185192756 | 185192756 | Human | | name |
| 597716273 | CV3717394 | single nucleotide variant | NM_001966.4(EHHADH):c.1015A>T (p.Met339Leu) | Fanconi renotubular syndrome 3 [RCV005035283] | uncertain significance | 3 | 185193383 | 185193383 | Human | 1 | name |
| 598222505 | CV3892301 | single nucleotide variant | NM_001966.4(EHHADH):c.1397T>G (p.Ile466Ser) | Fanconi renotubular syndrome 3 [RCV005253640] | uncertain significance | 3 | 185193001 | 185193001 | Human | 1 | name |
| 598178535 | CV3961250 | single nucleotide variant | NM_001966.4(EHHADH):c.1364C>T (p.Thr455Ile) | not specified [RCV005332352] | uncertain significance | 3 | 185193034 | 185193034 | Human | | name |
| 598178543 | CV3961251 | single nucleotide variant | NM_001966.4(EHHADH):c.2036T>G (p.Leu679Trp) | not specified [RCV005332353] | uncertain significance | 3 | 185192362 | 185192362 | Human | | name |
| 598178557 | CV3961253 | single nucleotide variant | NM_001966.4(EHHADH):c.1012A>G (p.Lys338Glu) | not specified [RCV005332355] | uncertain significance | 3 | 185193386 | 185193386 | Human | | name |
| 13515963 | CV491835 | single nucleotide variant | NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly) | EHHADH-related disorder [RCV003915722]|not provided [RCV000594935] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 185192732 | 185192732 | Human | 1 | name , trait , alternate_id |
| 13516496 | CV492064 | single nucleotide variant | NM_001966.4(EHHADH):c.1543A>T (p.Lys515Ter) | not provided [RCV000595598] | uncertain significance | 3 | 185192855 | 185192855 | Human | | name |
| 13515609 | CV492441 | single nucleotide variant | NM_001966.4(EHHADH):c.2023G>A (p.Val675Ile) | not provided [RCV000594486] | uncertain significance | 3 | 185192375 | 185192375 | Human | | name |
| 13520014 | CV492562 | single nucleotide variant | NM_001966.4(EHHADH):c.1805G>A (p.Arg602Gln) | not provided [RCV000969464]|not specified [RCV000598312] | benign | 3 | 185192593 | 185192593 | Human | | name |
| 13521952 | CV492567 | single nucleotide variant | NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys) | EHHADH-related disorder [RCV003980103]|not provided [RCV004791618]|not specified [RCV000591115] | likely benign|uncertain significance | 3 | 185192534 | 185192534 | Human | 1 | name , trait , alternate_id |
| 13517350 | CV492776 | single nucleotide variant | NM_001966.4(EHHADH):c.2117A>T (p.Asn706Ile) | not provided [RCV000969777]|not specified [RCV000596481] | benign|likely benign | 3 | 185192281 | 185192281 | Human | | name |
| 13517727 | CV492932 | single nucleotide variant | NM_001966.4(EHHADH):c.1414G>C (p.Val472Leu) | not provided [RCV000596768] | uncertain significance | 3 | 185192984 | 185192984 | Human | | name |
| 13524160 | CV493143 | single nucleotide variant | NM_001966.4(EHHADH):c.1897C>T (p.Arg633Cys) | EHHADH-related disorder [RCV004745500]|not provided [RCV000598386] | uncertain significance | 3 | 185192501 | 185192501 | Human | 1 | name , trait , alternate_id |
| 13522317 | CV493268 | single nucleotide variant | NM_001966.4(EHHADH):c.2161A>G (p.Ser721Gly) | EHHADH-related disorder [RCV004722963]|not specified [RCV000591584] | likely benign | 3 | 185192237 | 185192237 | Human | 1 | name , trait , alternate_id |
| 13522098 | CV493334 | single nucleotide variant | NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg) | EHHADH-related disorder [RCV003945437]|not provided [RCV000591304] | likely benign|uncertain significance | 3 | 185192584 | 185192584 | Human | 1 | name , trait , alternate_id |
| 13524131 | CV493490 | single nucleotide variant | NM_001966.4(EHHADH):c.1321A>C (p.Lys441Gln) | not provided [RCV000593879] | uncertain significance | 3 | 185193077 | 185193077 | Human | | name |
| 13521955 | CV493785 | single nucleotide variant | NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp) | EHHADH-related disorder [RCV003945444]|not provided [RCV000591119] | likely benign|uncertain significance | 3 | 185192594 | 185192594 | Human | 1 | name , trait , alternate_id |
| 13519934 | CV493990 | single nucleotide variant | NM_001966.4(EHHADH):c.1074G>T (p.Trp358Cys) | not provided [RCV000598252] | uncertain significance | 3 | 185193324 | 185193324 | Human | | name |
| 13519408 | CV494195 | single nucleotide variant | NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser) | EHHADH-related disorder [RCV003953005]|not provided [RCV000597904] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 185193335 | 185193335 | Human | 1 | name , trait , alternate_id |
| 13831993 | CV582490 | single nucleotide variant | NM_001966.4(EHHADH):c.2075T>A (p.Leu692Gln) | not provided [RCV000722678] | uncertain significance | 3 | 185192323 | 185192323 | Human | | name |
| 13833180 | CV584408 | single nucleotide variant | NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met) | EHHADH-related disorder [RCV003980363]|not provided [RCV000728356] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 185192460 | 185192460 | Human | 1 | name , trait , alternate_id |
| 13833271 | CV584501 | single nucleotide variant | NM_001966.4(EHHADH):c.1081C>A (p.Pro361Thr) | EHHADH-related disorder [RCV003965506]|not specified [RCV000728469] | likely benign | 3 | 185193317 | 185193317 | Human | 1 | name , trait , alternate_id |
| 13833591 | CV584826 | single nucleotide variant | NM_001966.4(EHHADH):c.1414G>A (p.Val472Ile) | EHHADH-related disorder [RCV004745567]|not provided [RCV000728894]|not specified [RCV004026958] | likely benign|uncertain significance | 3 | 185192984 | 185192984 | Human | 1 | name , trait , alternate_id |
| 13833734 | CV584972 | single nucleotide variant | NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr) | EHHADH-related disorder [RCV003947917]|not provided [RCV000729080] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 185193392 | 185193392 | Human | 1 | name , trait , alternate_id |
| 13833954 | CV585194 | single nucleotide variant | NM_001966.4(EHHADH):c.1547T>A (p.Met516Lys) | not provided [RCV000729347] | uncertain significance | 3 | 185192851 | 185192851 | Human | | name |
| 13834049 | CV585289 | single nucleotide variant | NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe) | EHHADH-related disorder [RCV003983184]|not provided [RCV000729465] | likely benign|uncertain significance | 3 | 185192705 | 185192705 | Human | 1 | name , trait , alternate_id |
| 13834160 | CV585402 | single nucleotide variant | NM_001966.4(EHHADH):c.1210G>A (p.Ala404Thr) | not provided [RCV000729601] | uncertain significance | 3 | 185193188 | 185193188 | Human | | name |
| 13834826 | CV586076 | single nucleotide variant | NM_001966.4(EHHADH):c.1861G>T (p.Glu621Ter) | not provided [RCV000730438] | uncertain significance | 3 | 185192537 | 185192537 | Human | | name |
| 13835057 | CV586311 | single nucleotide variant | NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) | EHHADH-related disorder [RCV003938108]|Fanconi renotubular syndrome 3 [RCV002485882]|not provided [RCV000730750] | likely benign|uncertain significance | 3 | 185193305 | 185193305 | Human | 1 | name , trait , alternate_id |
| 13835217 | CV586474 | single nucleotide variant | NM_001966.4(EHHADH):c.1478A>G (p.Tyr493Cys) | not provided [RCV000730947] | uncertain significance | 3 | 185192920 | 185192920 | Human | | name |
| 13835296 | CV586553 | deletion | NM_001966.4(EHHADH):c.78_80del (p.Thr27del) | EHHADH-related disorder [RCV004745569]|not provided [RCV000731049] | uncertain significance | 3 | 185248512 | 185248514 | Human | 1 | name , trait , alternate_id |
| 13836348 | CV587621 | single nucleotide variant | NM_001966.4(EHHADH):c.1084A>G (p.Lys362Glu) | not provided [RCV000732438]|not specified [RCV004027038] | uncertain significance | 3 | 185193314 | 185193314 | Human | | name |
| 13836442 | CV587715 | single nucleotide variant | NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly) | EHHADH-related disorder [RCV003947943]|not provided [RCV000732562]|not specified [RCV005328381] | likely benign|uncertain significance | 3 | 185192320 | 185192320 | Human | 1 | name , trait , alternate_id |
| 13837362 | CV588651 | single nucleotide variant | NM_001966.4(EHHADH):c.1793A>G (p.Lys598Arg) | not provided [RCV000733757] | uncertain significance | 3 | 185192605 | 185192605 | Human | | name |
| 13837527 | CV588817 | single nucleotide variant | NM_001966.4(EHHADH):c.2043A>C (p.Lys681Asn) | not provided [RCV000733978] | uncertain significance | 3 | 185192355 | 185192355 | Human | | name |
| 13837858 | CV589151 | single nucleotide variant | NM_001966.4(EHHADH):c.1505C>G (p.Pro502Arg) | not provided [RCV000734397] | uncertain significance | 3 | 185192893 | 185192893 | Human | | name |
| 13838257 | CV589557 | single nucleotide variant | NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg) | EHHADH-related disorder [RCV003892677]|not provided [RCV000734903]|not specified [RCV004027094] | likely benign|uncertain significance | 3 | 185193385 | 185193385 | Human | 1 | name , trait , alternate_id |
| 15196318 | CV697967 | single nucleotide variant | NM_001966.4(EHHADH):c.2144T>C (p.Leu715Ser) | not provided [RCV000956160] | benign | 3 | 185192254 | 185192254 | Human | | name |
| 15190916 | CV697968 | single nucleotide variant | NM_001966.4(EHHADH):c.2108C>T (p.Ser703Phe) | Chronic kidney disease [RCV001171327]|not provided [RCV000954619] | benign|uncertain significance | 3 | 185192290 | 185192290 | Human | 2 | name |
| 15153561 | CV708710 | single nucleotide variant | NM_001966.4(EHHADH):c.1448G>A (p.Arg483Gln) | not provided [RCV000968569] | benign | 3 | 185192950 | 185192950 | Human | | name |
| 15175598 | CV720331 | single nucleotide variant | NM_001966.4(EHHADH):c.2066T>C (p.Ile689Thr) | not provided [RCV000884405] | benign | 3 | 185192332 | 185192332 | Human | | name |
| 15175603 | CV720332 | single nucleotide variant | NM_001966.4(EHHADH):c.2050A>G (p.Arg684Gly) | not provided [RCV000884406] | benign | 3 | 185192348 | 185192348 | Human | | name |
| 15138401 | CV733944 | single nucleotide variant | NM_001966.4(EHHADH):c.1003A>G (p.Thr335Ala) | not provided [RCV000898974] | benign | 3 | 185193395 | 185193395 | Human | | name |
| 13832190 | CV582682 | microsatellite | NM_001966.4(EHHADH):c.561_562del (p.Arg187fs) | not provided [RCV000722874] | uncertain significance | 3 | 185218142 | 185218143 | Human | | name |
| 28899170 | CV904077 | microsatellite | NM_001966.4(EHHADH):c.594_595del (p.Cys199fs) | Chronic kidney disease [RCV001171347]|EHHADH-related disorder [RCV004746261] | uncertain significance | 3 | 185204731 | 185204732 | Human | | name , trait , alternate_id |
| 13523076 | CV492394 | deletion | NM_001966.4(EHHADH):c.2069_2071del (p.Pro690del) | not provided [RCV000592546] | uncertain significance | 3 | 185192327 | 185192329 | Human | | name |
| 13704880 | CV538975 | insertion | NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs) | Fanconi renotubular syndrome 1 [RCV000662186] | uncertain significance | 3 | 185192581 | 185192582 | Human | 1 | name |
| 13833923 | CV585163 | indel | NM_001966.4(EHHADH):c.145_148delinsTTT (p.Val49fs) | not provided [RCV000729314] | uncertain significance | 3 | 185248444 | 185248447 | Human | | name |
| 13838321 | CV589622 | deletion | NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer) | Fanconi renotubular syndrome 3 [RCV002507311]|not provided [RCV000734982] | uncertain significance | 3 | 185248475 | 185248475 | Human | 1 | name |
| 408374876 | CV3507921 | indel | NM_001966.4(EHHADH):c.2047_2052delinsAT (p.Tyr683fs) | EHHADH-related disorder [RCV004747532] | uncertain significance | 3 | 185192346 | 185192351 | Human | | name , trait , alternate_id |
| 13838237 | CV589536 | indel | NM_001966.4(EHHADH):c.828_830delinsCAT (p.Arg276_Lys277delinsSerIle) | not provided [RCV000734874]|not specified [RCV003987691] | uncertain significance | 3 | 185204496 | 185204498 | Human | | name |
