| 11655061 | CV301713 | single nucleotide variant | NM_203395.3(IYD):c.*3A>C | Congenital hypothyroidism [RCV000322963] | uncertain significance | 6 | 150398240 | 150398240 | Human | 1 | name |
| 11596045 | CV301714 | single nucleotide variant | NM_203395.3(IYD):c.*7C>T | IYD-related disorder [RCV003975908]|not provided [RCV001676307] | benign|likely benign | 6 | 150398244 | 150398244 | Human | 1 | name , trait , alternate_id |
| 11593308 | CV299308 | single nucleotide variant | NM_203395.3(IYD):c.*41G>A | not provided [RCV001681810] | benign|likely benign | 6 | 150398278 | 150398278 | Human | | name |
| 11585831 | CV301715 | single nucleotide variant | NM_203395.3(IYD):c.*31T>C | not provided [RCV001614162] | benign|likely benign | 6 | 150398268 | 150398268 | Human | | name |
| 11664055 | CV306207 | single nucleotide variant | NM_203395.3(IYD):c.*61C>T | Congenital hypothyroidism [RCV000402198] | uncertain significance | 6 | 150398298 | 150398298 | Human | 1 | name |
| 11660649 | CV306427 | single nucleotide variant | NM_203395.2(IYD):c.-64T>C | Congenital hypothyroidism [RCV000369146] | uncertain significance | 6 | 150368968 | 150368968 | Human | 1 | name |
| 11598599 | CV299298 | single nucleotide variant | NM_203395.2(IYD):c.-108C>T | Congenital hypothyroidism [RCV000407951] | uncertain significance | 6 | 150368924 | 150368924 | Human | 1 | name |
| 11653995 | CV299299 | single nucleotide variant | NM_203395.2(IYD):c.-104T>A | Congenital hypothyroidism [RCV000314511] | uncertain significance | 6 | 150368928 | 150368928 | Human | 2 | name |
| 11597827 | CV299311 | single nucleotide variant | NM_203395.3(IYD):c.*240G>T | not provided [RCV001609489] | benign|likely benign | 6 | 150398477 | 150398477 | Human | | name |
| 11660105 | CV301708 | single nucleotide variant | NM_203395.2(IYD):c.-113T>G | Congenital hypothyroidism [RCV000364244] | uncertain significance | 6 | 150368919 | 150368919 | Human | 1 | name |
| 11589702 | CV301725 | single nucleotide variant | NM_203395.3(IYD):c.*241G>A | Congenital hypothyroidism [RCV000312609] | uncertain significance | 6 | 150398478 | 150398478 | Human | 1 | name |
| 11586703 | CV301732 | single nucleotide variant | NM_203395.3(IYD):c.*672C>T | Congenital hypothyroidism [RCV000289912] | likely benign | 6 | 150398909 | 150398909 | Human | 1 | name |
| 11596309 | CV301747 | single nucleotide variant | NM_203395.3(IYD):c.*673T>G | Congenital hypothyroidism [RCV000380924] | likely benign | 6 | 150398910 | 150398910 | Human | 1 | name |
| 11593696 | CV301748 | single nucleotide variant | NM_203395.3(IYD):c.*780T>C | Congenital hypothyroidism [RCV000351491] | uncertain significance | 6 | 150399017 | 150399017 | Human | 1 | name |
| 11611258 | CV306208 | single nucleotide variant | NM_203395.3(IYD):c.*369C>T | Congenital hypothyroidism [RCV000392610] | likely benign | 6 | 150398606 | 150398606 | Human | 1 | name |
| 11603375 | CV306209 | deletion | NM_203395.3(IYD):c.*461del | Congenital hypothyroidism [RCV000299544] | uncertain significance | 6 | 150398687 | 150398687 | Human | 2 | name |
| 11659620 | CV306220 | single nucleotide variant | NM_203395.3(IYD):c.*553C>A | Congenital hypothyroidism [RCV000359882] | uncertain significance | 6 | 150398790 | 150398790 | Human | 1 | name |
| 11610636 | CV306227 | single nucleotide variant | NM_203395.3(IYD):c.*610G>T | Congenital hypothyroidism [RCV000384391] | uncertain significance | 6 | 150398847 | 150398847 | Human | 1 | name |
| 11611508 | CV306239 | single nucleotide variant | NM_203395.3(IYD):c.*792C>T | Congenital hypothyroidism [RCV000396117] | uncertain significance | 6 | 150399029 | 150399029 | Human | 1 | name |
| 11607000 | CV306241 | single nucleotide variant | NM_203395.3(IYD):c.*845C>T | Congenital hypothyroidism [RCV000338478] | uncertain significance | 6 | 150399082 | 150399082 | Human | 1 | name |
| 11649741 | CV306472 | single nucleotide variant | NM_203395.3(IYD):c.*181A>G | Congenital hypothyroidism [RCV000289227] | uncertain significance | 6 | 150398418 | 150398418 | Human | 1 | name |
| 11608220 | CV306477 | single nucleotide variant | NM_203395.3(IYD):c.*239C>T | Congenital hypothyroidism [RCV000352239] | uncertain significance | 6 | 150398476 | 150398476 | Human | 1 | name |
| 11609352 | CV306479 | single nucleotide variant | NM_203395.3(IYD):c.*337C>T | Congenital hypothyroidism [RCV000367255] | likely benign | 6 | 150398574 | 150398574 | Human | 1 | name |
| 11644332 | CV306480 | single nucleotide variant | NM_203395.3(IYD):c.*479C>T | Congenital hypothyroidism [RCV000259636] | uncertain significance | 6 | 150398716 | 150398716 | Human | 1 | name |
| 11605789 | CV306484 | single nucleotide variant | NM_203395.3(IYD):c.*531G>T | Congenital hypothyroidism [RCV000323885] | likely benign | 6 | 150398768 | 150398768 | Human | 1 | name |
| 11599361 | CV306488 | single nucleotide variant | NM_203395.3(IYD):c.*563G>A | Congenital hypothyroidism [RCV000265111] | uncertain significance | 6 | 150398800 | 150398800 | Human | 1 | name |
| 11605501 | CV306489 | single nucleotide variant | NM_203395.3(IYD):c.*571G>A | Congenital hypothyroidism [RCV000320291] | uncertain significance | 6 | 150398808 | 150398808 | Human | 1 | name |
| 11603067 | CV306492 | single nucleotide variant | NM_203395.3(IYD):c.*756A>G | Congenital hypothyroidism [RCV000296565] | likely benign | 6 | 150398993 | 150398993 | Human | 1 | name |
| 11602650 | CV306493 | single nucleotide variant | NM_203395.3(IYD):c.*794A>G | Congenital hypothyroidism [RCV000292896] | likely benign | 6 | 150399031 | 150399031 | Human | 1 | name |
| 11597825 | CV299312 | single nucleotide variant | NM_203395.3(IYD):c.*1198T>G | Congenital hypothyroidism [RCV000398653] | benign | 6 | 150399435 | 150399435 | Human | 1 | name |
| 11583194 | CV299314 | single nucleotide variant | NM_203395.3(IYD):c.*1417T>G | Congenital hypothyroidism [RCV000265080] | uncertain significance | 6 | 150399654 | 150399654 | Human | 1 | name |
| 11589444 | CV299319 | single nucleotide variant | NM_203395.3(IYD):c.*1535T>C | Congenital hypothyroidism [RCV000310619] | benign | 6 | 150399772 | 150399772 | Human | 1 | name |
| 11584044 | CV299320 | single nucleotide variant | NM_203395.3(IYD):c.*1615G>A | Congenital hypothyroidism [RCV000270900] | benign | 6 | 150399852 | 150399852 | Human | 1 | name |
| 11591510 | CV299334 | single nucleotide variant | NM_203395.3(IYD):c.*1701G>A | Congenital hypothyroidism [RCV000329596] | uncertain significance | 6 | 150399938 | 150399938 | Human | 1 | name |
| 11656688 | CV299335 | single nucleotide variant | NM_203395.3(IYD):c.*1754G>A | Congenital hypothyroidism [RCV000335598] | uncertain significance | 6 | 150399991 | 150399991 | Human | 1 | name |
| 11595534 | CV299342 | single nucleotide variant | NM_203395.3(IYD):c.*1762G>A | Congenital hypothyroidism [RCV000371702] | uncertain significance | 6 | 150399999 | 150399999 | Human | 1 | name |
| 11588493 | CV299344 | single nucleotide variant | NM_203395.3(IYD):c.*1970A>G | Congenital hypothyroidism [RCV000303513] | uncertain significance | 6 | 150400207 | 150400207 | Human | 1 | name |
| 11595130 | CV299345 | single nucleotide variant | NM_203395.3(IYD):c.*2392G>A | Congenital hypothyroidism [RCV000367206] | likely benign | 6 | 150400629 | 150400629 | Human | 1 | name |
| 11647148 | CV299346 | single nucleotide variant | NM_203395.3(IYD):c.*2393T>C | Congenital hypothyroidism [RCV000275006] | uncertain significance | 6 | 150400630 | 150400630 | Human | 1 | name |
| 11592477 | CV299351 | single nucleotide variant | NM_203395.3(IYD):c.*2814T>C | Congenital hypothyroidism [RCV000339083] | benign | 6 | 150401051 | 150401051 | Human | 1 | name |
| 11663901 | CV299353 | single nucleotide variant | NM_203395.3(IYD):c.*3094A>G | Congenital hypothyroidism [RCV000400685] | uncertain significance | 6 | 150401331 | 150401331 | Human | 1 | name |
| 11587765 | CV299354 | single nucleotide variant | NM_203395.3(IYD):c.*3533C>T | Congenital hypothyroidism [RCV000297516] | uncertain significance | 6 | 150401770 | 150401770 | Human | 1 | name |
| 11583348 | CV299355 | single nucleotide variant | NM_203395.3(IYD):c.*4035G>A | Congenital hypothyroidism [RCV000266204] | likely benign | 6 | 150402272 | 150402272 | Human | 1 | name |
| 11591359 | CV299359 | single nucleotide variant | NM_203395.3(IYD):c.*4243A>G | Congenital hypothyroidism [RCV000328368] | likely benign | 6 | 150402480 | 150402480 | Human | 1 | name |
| 11596663 | CV299361 | single nucleotide variant | NM_203395.3(IYD):c.*4295G>A | Congenital hypothyroidism [RCV000385246] | likely benign | 6 | 150402532 | 150402532 | Human | 1 | name |
| 11591229 | CV299365 | single nucleotide variant | NM_203395.3(IYD):c.*4382A>G | Congenital hypothyroidism [RCV000327153] | uncertain significance | 6 | 150402619 | 150402619 | Human | 1 | name |
| 11597628 | CV299366 | single nucleotide variant | NM_203395.3(IYD):c.*4691A>C | Congenital hypothyroidism [RCV000396222] | likely benign | 6 | 150402928 | 150402928 | Human | 1 | name |
| 11592370 | CV299368 | single nucleotide variant | NM_203395.3(IYD):c.*5127T>C | Congenital hypothyroidism [RCV000337864] | uncertain significance | 6 | 150403364 | 150403364 | Human | 1 | name |
| 11594492 | CV299376 | single nucleotide variant | NM_203395.3(IYD):c.*5333C>A | Congenital hypothyroidism [RCV000360024] | likely benign | 6 | 150403570 | 150403570 | Human | 1 | name |
| 11594461 | CV299381 | single nucleotide variant | NM_203395.3(IYD):c.*5475A>G | Congenital hypothyroidism [RCV000359452] | uncertain significance | 6 | 150403712 | 150403712 | Human | 1 | name |
| 11583967 | CV299383 | single nucleotide variant | NM_203395.3(IYD):c.*5657A>G | Congenital hypothyroidism [RCV000270414] | uncertain significance | 6 | 150403894 | 150403894 | Human | 1 | name |
| 11658172 | CV299384 | single nucleotide variant | NM_203395.3(IYD):c.*6383A>G | Congenital hypothyroidism [RCV000347196] | uncertain significance | 6 | 150404620 | 150404620 | Human | 1 | name |
| 11587885 | CV301749 | single nucleotide variant | NM_203395.3(IYD):c.*1121C>G | Congenital hypothyroidism [RCV000298601] | likely benign | 6 | 150399358 | 150399358 | Human | 1 | name |
| 11592029 | CV301750 | single nucleotide variant | NM_203395.3(IYD):c.*1129A>C | Congenital hypothyroidism [RCV000334917] | likely benign | 6 | 150399366 | 150399366 | Human | 1 | name |
| 11588693 | CV301754 | single nucleotide variant | NM_203395.3(IYD):c.*1346C>T | Congenital hypothyroidism [RCV000304943] | uncertain significance | 6 | 150399583 | 150399583 | Human | 1 | name |
| 11596889 | CV301765 | single nucleotide variant | NM_203395.3(IYD):c.*1673T>C | Congenital hypothyroidism [RCV000387719] | uncertain significance | 6 | 150399910 | 150399910 | Human | 1 | name |
| 11585399 | CV301773 | single nucleotide variant | NM_203395.3(IYD):c.*1715G>C | Congenital hypothyroidism [RCV000280583] | uncertain significance | 6 | 150399952 | 150399952 | Human | 1 | name |
| 11592721 | CV301776 | single nucleotide variant | NM_203395.3(IYD):c.*1856G>A | Congenital hypothyroidism [RCV000341565] | likely benign | 6 | 150400093 | 150400093 | Human | 1 | name |
| 11597994 | CV301777 | single nucleotide variant | NM_203395.3(IYD):c.*1941A>G | Congenital hypothyroidism [RCV000400506] | uncertain significance | 6 | 150400178 | 150400178 | Human | 1 | name |
| 11584781 | CV301779 | single nucleotide variant | NM_203395.3(IYD):c.*2272C>T | Congenital hypothyroidism [RCV000276352] | uncertain significance | 6 | 150400509 | 150400509 | Human | 1 | name |
| 11582390 | CV301782 | single nucleotide variant | NM_203395.3(IYD):c.*2495C>G | Congenital hypothyroidism [RCV000259711] | uncertain significance | 6 | 150400732 | 150400732 | Human | 1 | name |
| 11595987 | CV301784 | single nucleotide variant | NM_203395.3(IYD):c.*2815G>A | Congenital hypothyroidism [RCV000377213] | likely benign | 6 | 150401052 | 150401052 | Human | 1 | name |
| 11658184 | CV301786 | single nucleotide variant | NM_203395.3(IYD):c.*2886T>C | Congenital hypothyroidism [RCV000347282] | uncertain significance | 6 | 150401123 | 150401123 | Human | 1 | name |
| 11597451 | CV301787 | single nucleotide variant | NM_203395.3(IYD):c.*2956A>G | Congenital hypothyroidism [RCV000394624] | uncertain significance | 6 | 150401193 | 150401193 | Human | 1 | name |
| 11593639 | CV301800 | single nucleotide variant | NM_203395.3(IYD):c.*3004C>T | Congenital hypothyroidism [RCV000350838] | uncertain significance | 6 | 150401241 | 150401241 | Human | 1 | name |
| 11589743 | CV301814 | single nucleotide variant | NM_203395.3(IYD):c.*3140C>T | Congenital hypothyroidism [RCV000312888] | uncertain significance | 6 | 150401377 | 150401377 | Human | 1 | name |
| 11594125 | CV301815 | single nucleotide variant | NM_203395.3(IYD):c.*3399T>C | Congenital hypothyroidism [RCV000355933] | likely benign | 6 | 150401636 | 150401636 | Human | 1 | name |
| 11596978 | CV301822 | single nucleotide variant | NM_203395.3(IYD):c.*4439T>C | Congenital hypothyroidism [RCV000388704] | likely benign | 6 | 150402676 | 150402676 | Human | 1 | name |
| 11585354 | CV301835 | single nucleotide variant | NM_203395.3(IYD):c.*4849C>T | Congenital hypothyroidism [RCV000280519] | uncertain significance | 6 | 150403086 | 150403086 | Human | 1 | name |
| 11591465 | CV301836 | single nucleotide variant | NM_203395.3(IYD):c.*5573A>C | Congenital hypothyroidism [RCV000329175] | uncertain significance | 6 | 150403810 | 150403810 | Human | 1 | name |
| 11591797 | CV301838 | deletion | NM_203395.3(IYD):c.*5718del | Congenital hypothyroidism [RCV000332630] | likely benign | 6 | 150403951 | 150403951 | Human | 1 | name |
| 11662813 | CV301847 | single nucleotide variant | NM_203395.3(IYD):c.*5770C>T | Congenital hypothyroidism [RCV000389439] | uncertain significance | 6 | 150404007 | 150404007 | Human | 1 | name |
| 11650558 | CV301850 | duplication | NM_203395.3(IYD):c.*5785dup | Congenital hypothyroidism [RCV000293759] | uncertain significance | 6 | 150404018 | 150404019 | Human | 2 | name |
| 11661319 | CV301851 | single nucleotide variant | NM_203395.3(IYD):c.*5934A>T | Congenital hypothyroidism [RCV000375387] | uncertain significance | 6 | 150404171 | 150404171 | Human | 1 | name |
| 11592144 | CV301853 | single nucleotide variant | NM_203395.3(IYD):c.*6038C>A | Congenital hypothyroidism [RCV000336015] | uncertain significance | 6 | 150404275 | 150404275 | Human | 1 | name |
| 11586245 | CV301858 | single nucleotide variant | NM_203395.3(IYD):c.*6088G>T | Congenital hypothyroidism [RCV000286721] | uncertain significance | 6 | 150404325 | 150404325 | Human | 1 | name |
| 11611988 | CV306245 | single nucleotide variant | NM_203395.3(IYD):c.*1066C>T | Congenital hypothyroidism [RCV000401793] | benign | 6 | 150399303 | 150399303 | Human | 1 | name |
| 11609190 | CV306246 | single nucleotide variant | NM_203395.3(IYD):c.*1547G>A | Congenital hypothyroidism [RCV000365332] | uncertain significance | 6 | 150399784 | 150399784 | Human | 1 | name |
| 11605954 | CV306250 | single nucleotide variant | NM_203395.3(IYD):c.*1616T>A | Congenital hypothyroidism [RCV000325929] | benign | 6 | 150399853 | 150399853 | Human | 1 | name |
| 11607697 | CV306253 | single nucleotide variant | NM_203395.3(IYD):c.*2028T>C | Congenital hypothyroidism [RCV000346625] | likely benign | 6 | 150400265 | 150400265 | Human | 1 | name |
| 11660052 | CV306255 | single nucleotide variant | NM_203395.3(IYD):c.*2203G>A | Congenital hypothyroidism [RCV000363852] | uncertain significance | 6 | 150400440 | 150400440 | Human | 1 | name |
| 11604981 | CV306278 | deletion | NM_203395.3(IYD):c.*2358del | Congenital hypothyroidism [RCV000314907] | likely benign | 6 | 150400589 | 150400589 | Human | 1 | name |
| 11609958 | CV306280 | single nucleotide variant | NM_203395.3(IYD):c.*2477G>A | Congenital hypothyroidism [RCV000375147] | uncertain significance | 6 | 150400714 | 150400714 | Human | 1 | name |
| 11661656 | CV306288 | single nucleotide variant | NM_203395.3(IYD):c.*2535T>G | Congenital hypothyroidism [RCV000378778] | uncertain significance | 6 | 150400772 | 150400772 | Human | 1 | name |
| 11601882 | CV306289 | single nucleotide variant | NM_203395.3(IYD):c.*2771A>G | Congenital hypothyroidism [RCV000286334] | uncertain significance | 6 | 150401008 | 150401008 | Human | 1 | name |
| 11602299 | CV306291 | single nucleotide variant | NM_203395.3(IYD):c.*2837C>T | Congenital hypothyroidism [RCV000289878] | likely benign | 6 | 150401074 | 150401074 | Human | 1 | name |
| 11662991 | CV306293 | deletion | NM_203395.3(IYD):c.*3405del | Congenital hypothyroidism [RCV000391009]|not provided [RCV004695910] | uncertain significance | 6 | 150401639 | 150401639 | Human | 2 | name |
| 11599627 | CV306297 | single nucleotide variant | NM_203395.3(IYD):c.*3804C>T | Congenital hypothyroidism [RCV000266995] | uncertain significance | 6 | 150402041 | 150402041 | Human | 1 | name |
| 11603123 | CV306299 | single nucleotide variant | NM_203395.3(IYD):c.*4465T>C | Congenital hypothyroidism [RCV000296724] | uncertain significance | 6 | 150402702 | 150402702 | Human | 1 | name |
| 11611779 | CV306300 | single nucleotide variant | NM_203395.3(IYD):c.*5430C>T | Congenital hypothyroidism [RCV000399699] | uncertain significance | 6 | 150403667 | 150403667 | Human | 1 | name |
| 11605342 | CV306307 | single nucleotide variant | NM_203395.3(IYD):c.*5905A>G | Congenital hypothyroidism [RCV000318404] | likely benign | 6 | 150404142 | 150404142 | Human | 1 | name |
| 11611518 | CV306311 | single nucleotide variant | NM_203395.3(IYD):c.*6291A>G | Congenital hypothyroidism [RCV000396297] | likely benign | 6 | 150404528 | 150404528 | Human | 1 | name |
| 11600518 | CV306505 | single nucleotide variant | NM_203395.3(IYD):c.*1697G>A | Congenital hypothyroidism [RCV000274622] | uncertain significance | 6 | 150399934 | 150399934 | Human | 1 | name |
| 11609965 | CV306508 | single nucleotide variant | NM_203395.3(IYD):c.*1714C>T | Congenital hypothyroidism [RCV000374907] | likely benign | 6 | 150399951 | 150399951 | Human | 1 | name |
| 11601909 | CV306509 | single nucleotide variant | NM_203395.3(IYD):c.*1833G>A | Congenital hypothyroidism [RCV000286544] | uncertain significance | 6 | 150400070 | 150400070 | Human | 1 | name |
| 11611090 | CV306510 | single nucleotide variant | NM_203395.3(IYD):c.*2057G>A | Congenital hypothyroidism [RCV000390474] | likely benign | 6 | 150400294 | 150400294 | Human | 1 | name |
| 11604164 | CV306512 | single nucleotide variant | NM_203395.3(IYD):c.*2072A>G | Congenital hypothyroidism [RCV000306932] | likely benign | 6 | 150400309 | 150400309 | Human | 1 | name |
| 11605324 | CV306520 | single nucleotide variant | NM_203395.3(IYD):c.*2472T>A | Congenital hypothyroidism [RCV000318471] | uncertain significance | 6 | 150400709 | 150400709 | Human | 1 | name |
| 11605220 | CV306538 | single nucleotide variant | NM_203395.3(IYD):c.*2509C>T | Congenital hypothyroidism [RCV000317254] | likely benign | 6 | 150400746 | 150400746 | Human | 1 | name |
| 11649669 | CV306541 | single nucleotide variant | NM_203395.3(IYD):c.*2981T>C | Congenital hypothyroidism [RCV000288825] | uncertain significance | 6 | 150401218 | 150401218 | Human | 1 | name |
| 11608424 | CV306542 | single nucleotide variant | NM_203395.3(IYD):c.*3655G>A | Congenital hypothyroidism [RCV000354742] | likely benign | 6 | 150401892 | 150401892 | Human | 1 | name |
| 11605831 | CV306543 | single nucleotide variant | NM_203395.3(IYD):c.*3892G>A | Congenital hypothyroidism [RCV000324437] | uncertain significance | 6 | 150402129 | 150402129 | Human | 1 | name |
| 11608681 | CV306545 | single nucleotide variant | NM_203395.3(IYD):c.*3995A>C | Congenital hypothyroidism [RCV000358583] | benign | 6 | 150402232 | 150402232 | Human | 1 | name |
| 11602187 | CV306563 | single nucleotide variant | NM_203395.3(IYD):c.*4367C>A | Congenital hypothyroidism [RCV000288581] | likely benign | 6 | 150402604 | 150402604 | Human | 1 | name |
| 11611071 | CV306570 | single nucleotide variant | NM_203395.3(IYD):c.*5190G>A | Congenital hypothyroidism [RCV000390261] | uncertain significance | 6 | 150403427 | 150403427 | Human | 1 | name |
| 11603270 | CV306572 | single nucleotide variant | NM_203395.3(IYD):c.*5208G>A | Congenital hypothyroidism [RCV000298191] | likely benign | 6 | 150403445 | 150403445 | Human | 1 | name |
| 11603698 | CV306573 | single nucleotide variant | NM_203395.3(IYD):c.*5468T>C | Congenital hypothyroidism [RCV000302384] | uncertain significance | 6 | 150403705 | 150403705 | Human | 1 | name |
| 11600171 | CV306574 | single nucleotide variant | NM_203395.3(IYD):c.*5480T>C | Congenital hypothyroidism [RCV000271740] | likely benign | 6 | 150403717 | 150403717 | Human | 1 | name |
| 11609019 | CV306578 | single nucleotide variant | NM_203395.3(IYD):c.*5598G>A | Congenital hypothyroidism [RCV000362778] | uncertain significance | 6 | 150403835 | 150403835 | Human | 1 | name |
| 11600968 | CV306591 | single nucleotide variant | NM_203395.3(IYD):c.*5941C>T | Congenital hypothyroidism [RCV000278343] | likely benign | 6 | 150404178 | 150404178 | Human | 1 | name |
| 11610221 | CV306592 | single nucleotide variant | NM_203395.3(IYD):c.*6055G>A | Congenital hypothyroidism [RCV000378880] | uncertain significance | 6 | 150404292 | 150404292 | Human | 1 | name |
| 11607093 | CV306598 | single nucleotide variant | NM_203395.3(IYD):c.*6119A>G | Congenital hypothyroidism [RCV000339433] | uncertain significance | 6 | 150404356 | 150404356 | Human | 1 | name |
| 11653019 | CV306599 | deletion | NM_203395.3(IYD):c.*6375del | Congenital hypothyroidism [RCV000308570]|not provided [RCV004695911] | uncertain significance | 6 | 150404612 | 150404612 | Human | 2 | name |
| 408366690 | CV3514727 | single nucleotide variant | NM_203395.3(IYD):c.178+9A>G | IYD-related disorder [RCV004756938] | likely benign | 6 | 150369218 | 150369218 | Human | | name , trait , alternate_id |
| 150461752 | CV1275995 | single nucleotide variant | NM_203395.3(IYD):c.179-41G>A | not provided [RCV001709933] | benign | 6 | 150389311 | 150389311 | Human | | name |
| 150513471 | CV1285177 | single nucleotide variant | NM_203395.3(IYD):c.687+77G>A | not provided [RCV001722047] | benign | 6 | 150394332 | 150394332 | Human | | name |
| 405281084 | CV3223873 | single nucleotide variant | NM_203395.3(IYD):c.371-13G>T | not specified [RCV003988251] | likely benign | 6 | 150392332 | 150392332 | Human | | name |
| 150333422 | CV1171508 | single nucleotide variant | NM_203395.3(IYD):c.687+275C>A | not provided [RCV001539486] | benign | 6 | 150394530 | 150394530 | Human | | name |
| 150516203 | CV1228271 | single nucleotide variant | NM_203395.3(IYD):c.687+226T>C | not provided [RCV001639077] | benign | 6 | 150394481 | 150394481 | Human | | name |
| 150478852 | CV1240571 | single nucleotide variant | NM_203395.3(IYD):c.530+142C>T | not provided [RCV001652446] | benign | 6 | 150392646 | 150392646 | Human | | name |
| 150470624 | CV1258622 | single nucleotide variant | NM_203395.3(IYD):c.530+129C>T | not provided [RCV001684167] | benign | 6 | 150392633 | 150392633 | Human | | name |
| 150464004 | CV1263889 | single nucleotide variant | NM_203395.3(IYD):c.688-254A>G | not provided [RCV001682590] | benign | 6 | 150397801 | 150397801 | Human | | name |
| 150513337 | CV1285132 | single nucleotide variant | NM_203395.3(IYD):c.687+883G>A | not provided [RCV001722002] | benign | 6 | 150395138 | 150395138 | Human | | name |
| 11659609 | CV306495 | microsatellite | NM_203395.3(IYD):c.*1382CT[3] | Congenital hypothyroidism [RCV000359774] | uncertain significance | 6 | 150399619 | 150399620 | Human | | name |
| 150337151 | CV1171509 | single nucleotide variant | NM_203395.3(IYD):c.687+1058G>A | not provided [RCV001541447] | benign | 6 | 150395313 | 150395313 | Human | | name |
| 150442631 | CV1233731 | single nucleotide variant | NM_203395.3(IYD):c.687+1142T>A | not provided [RCV001645419] | benign | 6 | 150395397 | 150395397 | Human | | name |
| 150464481 | CV1241300 | single nucleotide variant | NM_203395.3(IYD):c.687+1048A>C | not provided [RCV001649811] | benign | 6 | 150395303 | 150395303 | Human | | name |
| 150484253 | CV1247098 | single nucleotide variant | NM_203395.3(IYD):c.687+1306G>A | not provided [RCV001673594] | benign | 6 | 150395561 | 150395561 | Human | | name |
| 150513315 | CV1285125 | single nucleotide variant | NM_203395.3(IYD):c.687+1497G>T | not provided [RCV001721995] | benign | 6 | 150395752 | 150395752 | Human | | name |
| 156194971 | CV2297184 | single nucleotide variant | NM_203395.3(IYD):c.687+1278G>A | not specified [RCV004151075] | uncertain significance | 6 | 150395533 | 150395533 | Human | | name |
| 11547410 | CV252155 | single nucleotide variant | NM_203395.3(IYD):c.687+1305T>C | Iodotyrosine deiodination defect [RCV000613257]|not provided [RCV001610608]|not specified [RCV000247724] | benign | 6 | 150395560 | 150395560 | Human | 1 | name |
| 405258088 | CV3208168 | single nucleotide variant | NM_203395.3(IYD):c.687+1260C>T | IYD-related disorder [RCV003941609] | likely benign | 6 | 150395515 | 150395515 | Human | | name , trait , alternate_id |
| 405295010 | CV3215058 | single nucleotide variant | NM_203395.3(IYD):c.687+1282G>A | IYD-related disorder [RCV003936907] | benign | 6 | 150395537 | 150395537 | Human | | name , trait , alternate_id |
| 405267494 | CV3219256 | single nucleotide variant | NM_203395.3(IYD):c.687+1275G>A | IYD-related disorder [RCV003969523]|not provided [RCV004707844] | likely benign | 6 | 150395530 | 150395530 | Human | 1 | name , trait , alternate_id |
| 598123339 | CV3884933 | single nucleotide variant | NM_203395.3(IYD):c.687+1329A>G | not specified [RCV005238542] | likely benign | 6 | 150395584 | 150395584 | Human | | name |
| 11593987 | CV301730 | deletion | NM_203395.3(IYD):c.*460_*461del | Congenital hypothyroidism [RCV000354435] | likely benign | 6 | 150398687 | 150398688 | Human | 2 | name |
| 15159990 | CV721794 | single nucleotide variant | NM_203395.3(IYD):c.69C>G (p.Ala23=) | IYD-related disorder [RCV003920530]|not provided [RCV000881298] | likely benign | 6 | 150369100 | 150369100 | Human | 1 | name , trait , alternate_id |
| 15098784 | CV721795 | single nucleotide variant | NM_203395.3(IYD):c.90G>A (p.Lys30=) | not provided [RCV000891816] | benign|likely benign | 6 | 150369121 | 150369121 | Human | | name |
| 15172384 | CV765532 | single nucleotide variant | NM_203395.3(IYD):c.60T>C (p.Phe20=) | not provided [RCV000928103] | likely benign | 6 | 150369091 | 150369091 | Human | | name |
| 401920954 | CV2820782 | single nucleotide variant | NM_203395.3(IYD):c.123C>G (p.Arg41=) | not provided [RCV003432092] | likely benign | 6 | 150369154 | 150369154 | Human | | name |
| 11605998 | CV306237 | indel | NM_203395.3(IYD):c.*672_*673delinsTG | Congenital hypothyroidism [RCV000326329] | uncertain significance | 6 | 150398909 | 150398910 | Human | | name |
| 15153305 | CV735476 | single nucleotide variant | NM_203395.3(IYD):c.210T>C (p.Asn70=) | not provided [RCV000901734] | likely benign | 6 | 150389383 | 150389383 | Human | | name |
| 401920956 | CV2820783 | single nucleotide variant | NM_203395.3(IYD):c.657C>T (p.Ile219=) | not provided [RCV003432093] | likely benign | 6 | 150394225 | 150394225 | Human | | name |
| 11600542 | CV306449 | single nucleotide variant | NM_203395.3(IYD):c.32T>C (p.Ile11Thr) | not specified [RCV004338006] | uncertain significance | 6 | 150369063 | 150369063 | Human | | name |
| 11609684 | CV306471 | single nucleotide variant | NM_203395.3(IYD):c.762C>T (p.Pro254=) | not provided [RCV004546487]|not specified [RCV000499777] | uncertain significance | 6 | 150398129 | 150398129 | Human | | name |
| 405794813 | CV3264890 | single nucleotide variant | NM_203395.3(IYD):c.29C>T (p.Ala10Val) | not specified [RCV004400977] | uncertain significance | 6 | 150369060 | 150369060 | Human | | name |
| 405794698 | CV3264895 | single nucleotide variant | NM_203395.3(IYD):c.85A>G (p.Lys29Glu) | not specified [RCV004400982] | uncertain significance | 6 | 150369116 | 150369116 | Human | | name |
| 597776824 | CV3684014 | single nucleotide variant | NM_203395.3(IYD):c.97G>C (p.Glu33Gln) | not specified [RCV004929707] | uncertain significance | 6 | 150369128 | 150369128 | Human | | name |
| 597776830 | CV3684016 | single nucleotide variant | NM_203395.3(IYD):c.98A>T (p.Glu33Val) | not specified [RCV004929709] | uncertain significance | 6 | 150369129 | 150369129 | Human | | name |
| 15191952 | CV699375 | single nucleotide variant | NM_203395.3(IYD):c.381G>A (p.Pro127=) | not provided [RCV000954926] | likely benign | 6 | 150392355 | 150392355 | Human | | name |
| 15175250 | CV721799 | single nucleotide variant | NM_203395.3(IYD):c.822G>A (p.Val274=) | not provided [RCV000884320] | likely benign | 6 | 150398189 | 150398189 | Human | | name |
| 15115202 | CV782474 | single nucleotide variant | NM_203395.3(IYD):c.327G>A (p.Glu109=) | not provided [RCV000978358] | likely benign | 6 | 150389500 | 150389500 | Human | | name |
| 126726543 | CV1016666 | deletion | NM_203395.3(IYD):c.624del (p.Val209fs) | Iodotyrosine deiodination defect [RCV005045399]|not specified [RCV004101118] | pathogenic|likely pathogenic|uncertain significance | 6 | 150394187 | 150394187 | Human | 1 | name |
| 156374195 | CV2198290 | single nucleotide variant | NM_203395.3(IYD):c.248A>T (p.Glu83Val) | not specified [RCV004081845] | uncertain significance | 6 | 150389421 | 150389421 | Human | | name |
| 156021613 | CV2226811 | single nucleotide variant | NM_203395.3(IYD):c.115G>A (p.Glu39Lys) | not specified [RCV004102016] | uncertain significance | 6 | 150369146 | 150369146 | Human | | name |
| 156019271 | CV2301801 | single nucleotide variant | NM_203395.3(IYD):c.207A>C (p.Glu69Asp) | not specified [RCV004156603] | uncertain significance | 6 | 150389380 | 150389380 | Human | | name |
| 155930540 | CV2361177 | single nucleotide variant | NM_203395.3(IYD):c.268T>C (p.Ser90Pro) | not specified [RCV004216362] | uncertain significance | 6 | 150389441 | 150389441 | Human | | name |
| 597738421 | CV3728552 | deletion | NM_203395.3(IYD):c.567del (p.Ile190fs) | Iodotyrosine deiodination defect [RCV005037988] | likely pathogenic | 6 | 150394135 | 150394135 | Human | 1 | name |
| 15195256 | CV721796 | single nucleotide variant | NM_203395.3(IYD):c.181G>A (p.Ala61Thr) | not provided [RCV000889452] | benign | 6 | 150389354 | 150389354 | Human | | name |
| 15155381 | CV721797 | single nucleotide variant | NM_203395.3(IYD):c.239A>C (p.His80Pro) | not provided [RCV000880406] | likely benign | 6 | 150389412 | 150389412 | Human | | name |
| 15139792 | CV782473 | single nucleotide variant | NM_203395.3(IYD):c.286C>T (p.Leu96Phe) | IYD-related disorder [RCV003962955]|not provided [RCV000982699] | likely benign | 6 | 150389459 | 150389459 | Human | 1 | name , trait , alternate_id |
| 126924701 | CV1043992 | single nucleotide variant | NM_203395.3(IYD):c.337A>G (p.Met113Val) | not provided [RCV001367331]|not specified [RCV004037002] | uncertain significance | 6 | 150389510 | 150389510 | Human | | name |
| 8555795 | CV15776 | single nucleotide variant | NM_203395.3(IYD):c.301C>T (p.Arg101Trp) | IYD-related disorder [RCV003430626]|Iodotyrosine deiodination defect [RCV000000773] | pathogenic|likely pathogenic | 6 | 150389474 | 150389474 | Human | 1 | name , trait , alternate_id |
| 8555797 | CV15778 | single nucleotide variant | NM_203395.3(IYD):c.347T>C (p.Ile116Thr) | Iodotyrosine deiodination defect [RCV000000775] | pathogenic|likely pathogenic | 6 | 150389520 | 150389520 | Human | 1 | name |
| 8555798 | CV15779 | single nucleotide variant | NM_203395.3(IYD):c.658G>A (p.Ala220Thr) | Iodotyrosine deiodination defect [RCV000000776] | pathogenic|likely pathogenic | 6 | 150394226 | 150394226 | Human | 1 | name |
| 156228304 | CV2199396 | single nucleotide variant | NM_203395.3(IYD):c.763G>A (p.Ala255Thr) | not specified [RCV004070966] | likely benign | 6 | 150398130 | 150398130 | Human | | name |
| 156270206 | CV2236893 | single nucleotide variant | NM_203395.3(IYD):c.805A>T (p.Ser269Cys) | not specified [RCV004112899] | uncertain significance | 6 | 150398172 | 150398172 | Human | | name |
| 156083229 | CV2244457 | single nucleotide variant | NM_203395.3(IYD):c.614G>C (p.Gly205Ala) | not specified [RCV004100422] | uncertain significance | 6 | 150394182 | 150394182 | Human | | name |
| 155928784 | CV2281245 | single nucleotide variant | NM_203395.3(IYD):c.566C>T (p.Pro189Leu) | not specified [RCV004147493] | uncertain significance | 6 | 150394134 | 150394134 | Human | | name |
| 156271532 | CV2315776 | single nucleotide variant | NM_203395.3(IYD):c.383G>A (p.Ser128Asn) | not specified [RCV004171569] | uncertain significance | 6 | 150392357 | 150392357 | Human | | name |
| 156055016 | CV2326551 | single nucleotide variant | NM_203395.3(IYD):c.349G>A (p.Asp117Asn) | not specified [RCV004183099] | uncertain significance | 6 | 150389522 | 150389522 | Human | | name |
| 156305788 | CV2359722 | single nucleotide variant | NM_203395.3(IYD):c.340G>C (p.Glu114Gln) | not specified [RCV004210540] | uncertain significance | 6 | 150389513 | 150389513 | Human | | name |
| 155933886 | CV2372355 | single nucleotide variant | NM_203395.3(IYD):c.428C>A (p.Pro143Gln) | not specified [RCV004217122] | uncertain significance | 6 | 150392402 | 150392402 | Human | | name |
| 155962559 | CV2388256 | single nucleotide variant | NM_203395.3(IYD):c.365C>T (p.Thr122Met) | not specified [RCV004234714] | uncertain significance | 6 | 150389538 | 150389538 | Human | | name |
| 329372903 | CV2428703 | single nucleotide variant | NM_203395.3(IYD):c.607G>A (p.Ala203Thr) | not specified [RCV004255495] | uncertain significance | 6 | 150394175 | 150394175 | Human | | name |
| 401734259 | CV2690529 | single nucleotide variant | NM_203395.3(IYD):c.401C>T (p.Pro134Leu) | not specified [RCV004304641] | uncertain significance | 6 | 150392375 | 150392375 | Human | | name |
| 401797281 | CV2742112 | single nucleotide variant | NM_203395.3(IYD):c.835C>T (p.Arg279Cys) | Iodotyrosine deiodination defect [RCV003324290] | pathogenic | 6 | 150398202 | 150398202 | Human | 1 | name |
| 401879879 | CV2769794 | single nucleotide variant | NM_203395.3(IYD):c.581T>C (p.Ile194Thr) | not specified [RCV004353661] | uncertain significance | 6 | 150394149 | 150394149 | Human | | name |
| 11659293 | CV299301 | single nucleotide variant | NM_203395.3(IYD):c.628C>T (p.His210Tyr) | Congenital hypothyroidism [RCV000356622] | uncertain significance | 6 | 150394196 | 150394196 | Human | 1 | name |
| 11586231 | CV299302 | single nucleotide variant | NM_203395.3(IYD):c.811G>A (p.Glu271Lys) | not provided [RCV001721977] | benign|likely benign | 6 | 150398178 | 150398178 | Human | | name |
| 11606283 | CV306195 | single nucleotide variant | NM_203395.3(IYD):c.323A>G (p.Asn108Ser) | Iodotyrosine deiodination defect [RCV002502375]|not provided [RCV000971536] | benign|uncertain significance | 6 | 150389496 | 150389496 | Human | 1 | name |
| 11605193 | CV306196 | single nucleotide variant | NM_203395.3(IYD):c.745G>A (p.Val249Met) | not specified [RCV004201062] | uncertain significance | 6 | 150398112 | 150398112 | Human | | name |
| 11644760 | CV306470 | single nucleotide variant | NM_203395.3(IYD):c.676G>A (p.Ala226Thr) | Congenital hypothyroidism [RCV000261817] | uncertain significance | 6 | 150394244 | 150394244 | Human | 1 | name |
| 405794807 | CV3264892 | single nucleotide variant | NM_203395.3(IYD):c.355G>A (p.Val119Ile) | not specified [RCV004400979] | uncertain significance | 6 | 150389528 | 150389528 | Human | | name |
| 405794805 | CV3264893 | single nucleotide variant | NM_203395.3(IYD):c.430G>A (p.Asp144Asn) | not specified [RCV004400980] | uncertain significance | 6 | 150392404 | 150392404 | Human | | name |
| 405794710 | CV3264894 | single nucleotide variant | NM_203395.3(IYD):c.596A>G (p.His199Arg) | not specified [RCV004400981] | uncertain significance | 6 | 150394164 | 150394164 | Human | | name |
| 407466575 | CV3448011 | single nucleotide variant | NM_203395.3(IYD):c.700G>C (p.Val234Leu) | not specified [RCV004635668] | uncertain significance | 6 | 150398067 | 150398067 | Human | | name |
| 407466579 | CV3448012 | single nucleotide variant | NM_203395.3(IYD):c.403T>C (p.Trp135Arg) | not specified [RCV004635669] | uncertain significance | 6 | 150392377 | 150392377 | Human | | name |
| 597776816 | CV3684012 | single nucleotide variant | NM_203395.3(IYD):c.556G>A (p.Asp186Asn) | not specified [RCV004929705] | uncertain significance | 6 | 150394124 | 150394124 | Human | | name |
| 597776820 | CV3684013 | single nucleotide variant | NM_203395.3(IYD):c.439C>A (p.His147Asn) | not specified [RCV004929706] | uncertain significance | 6 | 150392413 | 150392413 | Human | | name |
| 597776834 | CV3684017 | single nucleotide variant | NM_203395.3(IYD):c.757C>T (p.Arg253Cys) | not specified [RCV004929710] | uncertain significance | 6 | 150398124 | 150398124 | Human | | name |
| 597738426 | CV3728554 | single nucleotide variant | NM_203395.3(IYD):c.736C>T (p.Arg246Ter) | Iodotyrosine deiodination defect [RCV005037989] | likely pathogenic | 6 | 150398103 | 150398103 | Human | 1 | name |
| 598172124 | CV3969205 | single nucleotide variant | NM_203395.3(IYD):c.432C>A (p.Asp144Glu) | not specified [RCV005370715] | uncertain significance | 6 | 150392406 | 150392406 | Human | | name |
| 598172130 | CV3969206 | single nucleotide variant | NM_203395.3(IYD):c.302G>A (p.Arg101Gln) | not specified [RCV005370716] | uncertain significance | 6 | 150389475 | 150389475 | Human | | name |
| 598172135 | CV3969207 | single nucleotide variant | NM_203395.3(IYD):c.632A>G (p.Tyr211Cys) | not specified [RCV005370717] | uncertain significance | 6 | 150394200 | 150394200 | Human | | name |
| 616933893 | CV4011865 | single nucleotide variant | NM_203395.3(IYD):c.557A>G (p.Asp186Gly) | not specified [RCV005408414] | uncertain significance | 6 | 150394125 | 150394125 | Human | | name |
| 13216349 | CV428527 | single nucleotide variant | NM_203395.3(IYD):c.604G>A (p.Ala202Thr) | IYD-related disorder [RCV003925465]|not provided [RCV000879971]|not specified [RCV000503484] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 6 | 150394172 | 150394172 | Human | 1 | name , trait , alternate_id |
| 15193609 | CV721798 | single nucleotide variant | NM_203395.3(IYD):c.737G>A (p.Arg246Gln) | IYD-related disorder [RCV003975605]|not provided [RCV000888994] | benign | 6 | 150398104 | 150398104 | Human | 1 | name , trait , alternate_id |
| 15144852 | CV749896 | single nucleotide variant | NM_203395.3(IYD):c.537C>A (p.Asn179Lys) | IYD-related disorder [RCV003978041]|not provided [RCV000922440] | likely benign | 6 | 150394105 | 150394105 | Human | 1 | name , trait , alternate_id |
| 597683249 | CV3728550 | deletion | NM_203395.3(IYD):c.293_306del (p.Asn98fs) | Iodotyrosine deiodination defect [RCV005045591] | likely pathogenic | 6 | 150389463 | 150389476 | Human | 1 | name |
| 597738414 | CV3728551 | insertion | NM_203395.3(IYD):c.523_524insTT (p.Lys175fs) | Iodotyrosine deiodination defect [RCV005037987] | likely pathogenic | 6 | 150392497 | 150392498 | Human | 1 | name |
| 11593372 | CV301834 | insertion | NM_203395.3(IYD):c.*4676_*4677insGGGGGTGATTCACCT | Congenital hypothyroidism [RCV000348331] | benign | 6 | 150402911 | 150402912 | Human | 2 | name |
| 126731547 | CV1020186 | deletion | NM_203395.3(IYD):c.673del (p.Leu224_Leu225insTer) | Iodotyrosine deiodination defect [RCV001333748] | pathogenic | 6 | 150394241 | 150394241 | Human | | name |
| 8555796 | CV15777 | deletion | NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) | IYD-related disorder [RCV003430627]|Iodotyrosine deiodination defect [RCV000000774]|not specified [RCV004018529] | pathogenic|likely pathogenic|uncertain significance | 6 | 150389487 | 150389489 | Human | 1 | name , trait , alternate_id |
