| NM_003466.4(PAX8):c.165T>G (p.His55Gln) |
single nucleotide variant |
not provided [RCV000144426] |
Chr2:113246780 [GRCh38]
Chr2:114004357 [GRCh37]
Chr2:2q14.1 |
not provided |
| NM_003466.4(PAX8):c.1011del (p.Val339fs) |
deletion |
Obesity [RCV000735297] |
Chr2:113235470 [GRCh38]
Chr2:113993047 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1280C>T (p.Ser427Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004649184]|not provided [RCV000521016] |
Chr2:113218606 [GRCh38]
Chr2:113976183 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133552]|PAX8 POLYMORPHISM [RCV000014792]|PAX8-related disorder [RCV003974824]|not provided [RCV003430637]|not specified [RCV001698942] |
Chr2:113235496 [GRCh38]
Chr2:113993073 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.322C>T (p.Arg108Ter) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000014793] |
Chr2:113244494 [GRCh38]
Chr2:114002071 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.92G>A (p.Arg31His) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000014794] |
Chr2:113246853 [GRCh38]
Chr2:114004430 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.185T>G (p.Leu62Arg) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000014795] |
Chr2:113246760 [GRCh38]
Chr2:114004337 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.170G>A (p.Cys57Tyr) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000014796] |
Chr2:113246775 [GRCh38]
Chr2:114004352 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.160A>G (p.Ser54Gly) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000014797] |
Chr2:113246785 [GRCh38]
Chr2:114004362 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.119A>C (p.Gln40Pro) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000014798] |
Chr2:113246826 [GRCh38]
Chr2:114004403 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.143C>T (p.Ser48Phe) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000014799] |
Chr2:113246802 [GRCh38]
Chr2:114004379 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.1227C>G (p.Pro409=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000363223]|not provided [RCV000877696] |
Chr2:113220141 [GRCh38]
Chr2:113977718 [GRCh37]
Chr2:2q14.1 |
likely benign|uncertain significance |
| NM_003466.4(PAX8):c.797T>C (p.Leu266Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002516086]|not provided [RCV000153642] |
Chr2:113236702 [GRCh38]
Chr2:113994279 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.473C>T (p.Thr158Met) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130010]|Inborn genetic diseases [RCV002514960]|not provided [RCV000153643] |
Chr2:113242695 [GRCh38]
Chr2:114000272 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1060C>G (p.Gln354Glu) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000389718]|Inborn genetic diseases [RCV002521266] |
Chr2:113235421 [GRCh38]
Chr2:113992998 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1765G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000264304]|not provided [RCV004694464] |
Chr2:113216768 [GRCh38]
Chr2:113974345 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.898+12G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000274260] |
Chr2:113236589 [GRCh38]
Chr2:113994166 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.297C>T (p.Asn99=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000285127] |
Chr2:113244519 [GRCh38]
Chr2:114002096 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1189+15G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000270972]|not provided [RCV001702003]|not specified [RCV001699460] |
Chr2:113227140 [GRCh38]
Chr2:113984717 [GRCh37]
Chr2:2q14.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003466.4(PAX8):c.1275G>A (p.Leu425=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000271640] |
Chr2:113220093 [GRCh38]
Chr2:113977670 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.479-6C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000372606]|not provided [RCV000873176]|not specified [RCV001699319] |
Chr2:113242136 [GRCh38]
Chr2:113999713 [GRCh37]
Chr2:2q14.1 |
benign|uncertain significance |
| NM_003466.4(PAX8):c.885C>T (p.Tyr295=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000374688]|not provided [RCV000871993] |
Chr2:113236614 [GRCh38]
Chr2:113994191 [GRCh37]
Chr2:2q14.1 |
benign|uncertain significance |
| NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000310810]|not provided [RCV001354423] |
Chr2:113220101 [GRCh38]
Chr2:113977678 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.501C>A (p.Pro167=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000334334]|not provided [RCV000872927] |
Chr2:113242108 [GRCh38]
Chr2:113999685 [GRCh37]
Chr2:2q14.1 |
benign|uncertain significance |
| GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 |
copy number loss |
See cases [RCV000240053] |
Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1 |
pathogenic |
| NM_003466.4(PAX8):c.129G>A (p.Arg43=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000342663]|not provided [RCV000870944] |
Chr2:113246816 [GRCh38]
Chr2:114004393 [GRCh37]
Chr2:2q14.1 |
benign|uncertain significance |
| NM_003466.4(PAX8):c.898+11C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000331725]|not specified [RCV000250874] |
Chr2:113236590 [GRCh38]
Chr2:113994167 [GRCh37]
Chr2:2q14.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 |
copy number loss |
See cases [RCV000240485] |
Chr2:109798247..125658380 [GRCh37]
Chr2:2q12.3-14.3 |
pathogenic |
| NM_003466.4(PAX8):c.*1029G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000272270] |
Chr2:113217504 [GRCh38]
Chr2:113975081 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 |
copy number loss |
See cases [RCV000240490] |
Chr2:109556627..117570152 [GRCh37]
Chr2:2q12.3-14.1 |
pathogenic |
| NM_003466.4(PAX8):c.478+16C>T |
single nucleotide variant |
not specified [RCV000245939] |
Chr2:113242674 [GRCh38]
Chr2:114000251 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.*627T>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000299004] |
Chr2:113217906 [GRCh38]
Chr2:113975483 [GRCh37]
Chr2:2q14.1 |
likely benign|uncertain significance |
| NM_003466.4(PAX8):c.*845G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000351958]|not provided [RCV004694465] |
Chr2:113217688 [GRCh38]
Chr2:113975265 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2320G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000352159] |
Chr2:113216213 [GRCh38]
Chr2:113973790 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*703G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000397193] |
Chr2:113217830 [GRCh38]
Chr2:113975407 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2033C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000353356] |
Chr2:113216500 [GRCh38]
Chr2:113974077 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2146A>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000300927]|not provided [RCV004708370] |
Chr2:113216387 [GRCh38]
Chr2:113216387..113216388 [GRCh38]
Chr2:113973964 [GRCh37]
Chr2:113973964..113973965 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.*204C>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000302199] |
Chr2:113218329 [GRCh38]
Chr2:113975906 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*708C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000338694] |
Chr2:113217825 [GRCh38]
Chr2:113975402 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*187A>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000359275]|not provided [RCV001707656] |
Chr2:113218346 [GRCh38]
Chr2:113975923 [GRCh37]
Chr2:2q14.1 |
benign|likely benign|uncertain significance |
| NM_003466.4(PAX8):c.*1000T>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000381833]|not provided [RCV004709864] |
Chr2:113217533 [GRCh38]
Chr2:113975110 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.*1044A>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000383143]|not provided [RCV004708372] |
Chr2:113217489 [GRCh38]
Chr2:113217489..113217490 [GRCh38]
Chr2:113975066 [GRCh37]
Chr2:113975066..113975067 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.*1807C>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000361249] |
Chr2:113216726 [GRCh38]
Chr2:113974303 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1914C>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000322907]|not provided [RCV004708371] |
Chr2:113216619 [GRCh38]
Chr2:113974196 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.*423C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000342255] |
Chr2:113218110 [GRCh38]
Chr2:113975687 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1006A>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000324939]|not provided [RCV004708373] |
Chr2:113217527 [GRCh38]
Chr2:113975104 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.*2478C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000346185]|not provided [RCV004708368] |
Chr2:113216055 [GRCh38]
Chr2:113216055..113216056 [GRCh38]
Chr2:113973632 [GRCh37]
Chr2:113973632..113973633 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.*2193G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000368505] |
Chr2:113216340 [GRCh38]
Chr2:113973917 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2309A>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000311544]|not provided [RCV004708369] |
Chr2:113216224 [GRCh38]
Chr2:113973801 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.858G>T (p.Gly286=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000281688] |
Chr2:113236641 [GRCh38]
Chr2:113994218 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1977T>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000260896] |
Chr2:113216556 [GRCh38]
Chr2:113974133 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2503_*2504dup |
duplication |
Congenital hypothyroidism [RCV000291288] |
Chr2:113216028..113216029 [GRCh38]
Chr2:113973605..113973606 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003466.4(PAX8):c.278G>C (p.Gly93Ala) |
single nucleotide variant |
not provided [RCV000490149] |
Chr2:113244538 [GRCh38]
Chr2:114002115 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.136G>A (p.Asp46Asn) |
single nucleotide variant |
not provided [RCV002293021] |
Chr2:113246809 [GRCh38]
Chr2:114004386 [GRCh37]
Chr2:2q14.1 |
likely pathogenic |
| NM_003466.4(PAX8):c.*2312G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000398994] |
Chr2:113216221 [GRCh38]
Chr2:113973798 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2409C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000399031] |
Chr2:113216124 [GRCh38]
Chr2:113973701 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2192C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000400181] |
Chr2:113216341 [GRCh38]
Chr2:113973918 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*764C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000293563] |
Chr2:113217769 [GRCh38]
Chr2:113975346 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1185G>A (p.Val395=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000333038] |
Chr2:113227159 [GRCh38]
Chr2:113984736 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*789G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000385422] |
Chr2:113217744 [GRCh38]
Chr2:113975321 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*938C>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000294715] |
Chr2:113217595 [GRCh38]
Chr2:113975172 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2527A>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000321557] |
Chr2:113216006 [GRCh38]
Chr2:113973583 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1393A>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000321813] |
Chr2:113217140 [GRCh38]
Chr2:113974717 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2326A>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000287867] |
Chr2:113216207 [GRCh38]
Chr2:113973784 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2517C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000376257] |
Chr2:113216016 [GRCh38]
Chr2:113973593 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.5C>T (p.Pro2Leu) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000395300] |
Chr2:113278390 [GRCh38]
Chr2:114035967 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*368G>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000397190] |
Chr2:113218165 [GRCh38]
Chr2:113975742 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1011C>T (p.Ser337=) |
single nucleotide variant |
not specified [RCV000606309] |
Chr2:113235470 [GRCh38]
Chr2:113993047 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.236C>T (p.Ser79Phe) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001170073] |
Chr2:113244580 [GRCh38]
Chr2:114002157 [GRCh37]
Chr2:2q14.1 |
likely pathogenic |
| NM_003466.4(PAX8):c.457_458del (p.Leu153fs) |
deletion |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001170074] |
Chr2:113242710..113242711 [GRCh38]
Chr2:114000287..114000288 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003466.4(PAX8):c.257C>G (p.Pro86Arg) |
single nucleotide variant |
not specified [RCV000501288] |
Chr2:113244559 [GRCh38]
Chr2:114002136 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.160A>T (p.Ser54Cys) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000502399] |
Chr2:113246785 [GRCh38]
Chr2:114004362 [GRCh37]
Chr2:2q14.1 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3 |
drug response |
| GRCh37/hg19 2q13(chr2:113698135-114064263)x1 |
copy number loss |
not provided [RCV000682066] |
Chr2:113698135..114064263 [GRCh37]
Chr2:2q13 |
uncertain significance |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 |
copy number gain |
not provided [RCV000682168] |
Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003466.4(PAX8):c.1143C>T (p.Ser381=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130603]|not provided [RCV000871445] |
Chr2:113227201 [GRCh38]
Chr2:113984778 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.601+51C>G |
single nucleotide variant |
not provided [RCV001709111] |
Chr2:113241957 [GRCh38]
Chr2:113999534 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.1087+4C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133550]|not provided [RCV000871992]|not specified [RCV001701333] |
Chr2:113235390 [GRCh38]
Chr2:113992967 [GRCh37]
Chr2:2q14.1 |
benign|uncertain significance |
| NM_003466.4(PAX8):c.404A>G (p.Lys135Arg) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130012]|not provided [RCV000872892] |
Chr2:113242764 [GRCh38]
Chr2:114000341 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.602G>A (p.Ser201Asn) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001135041] |
Chr2:113241726 [GRCh38]
Chr2:113999303 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1276+215C>T |
single nucleotide variant |
not provided [RCV001666064] |
Chr2:113219877 [GRCh38]
Chr2:113977454 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.984C>T (p.Ala328=) |
single nucleotide variant |
not provided [RCV000982961] |
Chr2:113235497 [GRCh38]
Chr2:113993074 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.705G>A (p.Pro235=) |
single nucleotide variant |
not provided [RCV000876957] |
Chr2:113241623 [GRCh38]
Chr2:113999200 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.708C>T (p.Leu236=) |
single nucleotide variant |
PAX8-related disorder [RCV003960622]|not provided [RCV000950971] |
Chr2:113241620 [GRCh38]
Chr2:113999197 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.1087+5G>A |
single nucleotide variant |
not provided [RCV000876755] |
Chr2:113235389 [GRCh38]
Chr2:113992966 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.981C>T (p.Ser327=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133553]|Inborn genetic diseases [RCV002540153]|not provided [RCV000896985] |
Chr2:113235500 [GRCh38]
Chr2:113993077 [GRCh37]
Chr2:2q14.1 |
likely benign|uncertain significance |
| NM_003466.4(PAX8):c.1098G>A (p.Met366Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003268001] |
Chr2:113227246 [GRCh38]
Chr2:113984823 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000986802] |
Chr2:113244601 [GRCh38]
Chr2:114002178 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.*2475C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133323] |
Chr2:113216058 [GRCh38]
Chr2:113973635 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1186G>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001132502] |
Chr2:113217347 [GRCh38]
Chr2:113974924 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV003447577]|not provided [RCV001090266] |
Chr2:113220142 [GRCh38]
Chr2:113977719 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*897C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133428] |
Chr2:113217636 [GRCh38]
Chr2:113975213 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2276G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134796]|not provided [RCV003433020] |
Chr2:113216257 [GRCh38]
Chr2:113973834 [GRCh37]
Chr2:2q14.1 |
benign|uncertain significance |
| NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000986800] |
Chr2:113235453 [GRCh38]
Chr2:113993030 [GRCh37]
Chr2:2q14.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_003466.4(PAX8):c.75T>C (p.Pro25=) |
single nucleotide variant |
not provided [RCV000920141] |
Chr2:113246870 [GRCh38]
Chr2:114004447 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130602]|not provided [RCV000942295]|not specified [RCV003396553] |
Chr2:113227194 [GRCh38]
Chr2:113984771 [GRCh37]
Chr2:2q14.1 |
benign|likely benign|uncertain significance |
| NM_003466.4(PAX8):c.372T>C (p.Ser124=) |
single nucleotide variant |
PAX8-related disorder [RCV003965745]|not provided [RCV000871662] |
Chr2:113244444 [GRCh38]
Chr2:114002021 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.*2044G>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134798] |
Chr2:113216489 [GRCh38]
Chr2:113974066 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1317A>G (p.Ala439=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001129898]|not provided [RCV000870739]|not specified [RCV001701458] |
Chr2:113218569 [GRCh38]
Chr2:113976146 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.324A>T (p.Arg108=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130014] |
Chr2:113244492 [GRCh38]
Chr2:114002069 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.709G>C (p.Glu237Gln) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000986801] |
Chr2:113241619 [GRCh38]
Chr2:113999196 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.81G>A (p.Pro27=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130725] |
Chr2:113246864 [GRCh38]
Chr2:114004441 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1246G>A (p.Ala416Thr) |
single nucleotide variant |
not specified [RCV004783691] |
Chr2:113220122 [GRCh38]
Chr2:113977699 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.632A>G (p.Asp211Gly) |
single nucleotide variant |
not provided [RCV003312483] |
Chr2:113241696 [GRCh38]
Chr2:113999273 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.514C>G (p.Gln172Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003291843] |
Chr2:113242095 [GRCh38]
Chr2:113999672 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV000986799] |
Chr2:113227205 [GRCh38]
Chr2:113984782 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.*2231C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134797] |
Chr2:113216302 [GRCh38]
Chr2:113973879 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*612G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134913] |
Chr2:113217921 [GRCh38]
Chr2:113975498 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*501C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134915] |
Chr2:113218032 [GRCh38]
Chr2:113975609 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.390-103G>T |
single nucleotide variant |
not provided [RCV001660963] |
Chr2:113242881 [GRCh38]
Chr2:114000458 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.191+94C>T |
single nucleotide variant |
not provided [RCV001638353] |
Chr2:113246660 [GRCh38]
Chr2:114004237 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.1088-337G>A |
single nucleotide variant |
not provided [RCV001669668] |
Chr2:113227593 [GRCh38]
Chr2:113985170 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.25+197G>T |
single nucleotide variant |
not provided [RCV001639487] |
Chr2:113278173 [GRCh38]
Chr2:114035750 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.778-297G>A |
single nucleotide variant |
not provided [RCV001693197] |
Chr2:113237018 [GRCh38]
Chr2:113994595 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.1088-353G>C |
single nucleotide variant |
not provided [RCV001676458] |
Chr2:113227609 [GRCh38]
Chr2:113985186 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.389+101G>A |
single nucleotide variant |
not provided [RCV001685791] |
Chr2:113244326 [GRCh38]
Chr2:114001903 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.1110G>A (p.Thr370=) |
single nucleotide variant |
not provided [RCV000887360] |
Chr2:113227234 [GRCh38]
Chr2:113984811 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.873T>G (p.Thr291=) |
single nucleotide variant |
not provided [RCV000977724] |
Chr2:113236626 [GRCh38]
Chr2:113994203 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.1190-10C>T |
single nucleotide variant |
not provided [RCV000945718] |
Chr2:113220188 [GRCh38]
Chr2:113977765 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.960C>G (p.Thr320=) |
single nucleotide variant |
not provided [RCV000977274] |
Chr2:113235521 [GRCh38]
Chr2:113993098 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.519G>A (p.Ser173=) |
single nucleotide variant |
not provided [RCV000978400] |
Chr2:113242090 [GRCh38]
Chr2:113999667 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.651C>T (p.Ser217=) |
single nucleotide variant |
not provided [RCV000895871] |
Chr2:113241677 [GRCh38]
Chr2:113999254 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.704C>T (p.Pro235Leu) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001135039]|Inborn genetic diseases [RCV003279138]|not provided [RCV000886388] |
Chr2:113241624 [GRCh38]
Chr2:113999201 [GRCh37]
Chr2:2q14.1 |
likely benign|uncertain significance |
| NM_003466.4(PAX8):c.1242C>T (p.Ser414=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130601]|not provided [RCV000872421] |
Chr2:113220126 [GRCh38]
Chr2:113977703 [GRCh37]
Chr2:2q14.1 |
benign|likely benign |
| NM_003466.4(PAX8):c.1116C>T (p.Pro372=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133549]|Inborn genetic diseases [RCV003344110]|PAX8-related disorder [RCV003955720]|not provided [RCV000874416] |
Chr2:113227228 [GRCh38]
Chr2:113984805 [GRCh37]
Chr2:2q14.1 |
benign|likely benign|uncertain significance |
| NM_003466.4(PAX8):c.*1942C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001129813] |
Chr2:113216591 [GRCh38]
Chr2:113974168 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1066G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001132503] |
Chr2:113217467 [GRCh38]
Chr2:113975044 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*2368C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133324] |
Chr2:113216165 [GRCh38]
Chr2:113973742 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*844C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133429] |
Chr2:113217689 [GRCh38]
Chr2:113975266 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*766C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133430] |
Chr2:113217767 [GRCh38]
Chr2:113975344 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.701A>G (p.Glu234Gly) |
single nucleotide variant |
not provided [RCV001578155] |
Chr2:113241627 [GRCh38]
Chr2:113999204 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1190-181G>A |
single nucleotide variant |
not provided [RCV001677692] |
Chr2:113220359 [GRCh38]
Chr2:113977936 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.778-119C>A |
single nucleotide variant |
not provided [RCV001675253] |
Chr2:113236840 [GRCh38]
Chr2:113994417 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.479-29C>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001788686]|not provided [RCV001654848] |
Chr2:113242159 [GRCh38]
Chr2:113999736 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.192-244A>G |
single nucleotide variant |
not provided [RCV001638790] |
Chr2:113244868 [GRCh38]
Chr2:114002445 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.777+105A>G |
single nucleotide variant |
not provided [RCV001721793] |
Chr2:113241446 [GRCh38]
Chr2:113999023 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.478+135G>A |
single nucleotide variant |
not provided [RCV001721818] |
Chr2:113242555 [GRCh38]
Chr2:114000132 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.479-119T>C |
single nucleotide variant |
not provided [RCV001721823] |
Chr2:113242249 [GRCh38]
Chr2:113999826 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.898+99G>A |
single nucleotide variant |
not provided [RCV001620737] |
Chr2:113236502 [GRCh38]
Chr2:113994079 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.25+24T>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001788741]|not provided [RCV001678111] |
Chr2:113278346 [GRCh38]
Chr2:114035923 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.*290G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001129897]|not provided [RCV004694818] |
Chr2:113218243 [GRCh38]
Chr2:113975820 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.441C>T (p.Cys147=) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130011] |
Chr2:113242727 [GRCh38]
Chr2:114000304 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.346G>A (p.Val116Ile) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130013]|Inborn genetic diseases [RCV002558270] |
Chr2:113244470 [GRCh38]
Chr2:114002047 [GRCh37]
Chr2:2q14.1 |
likely benign|uncertain significance |
| NM_003466.4(PAX8):c.*372C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001129895] |
Chr2:113218161 [GRCh38]
Chr2:113975738 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.191+6C>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130724] |
Chr2:113246748 [GRCh38]
Chr2:114004325 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.-63C>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130726]|not provided [RCV003433016] |
Chr2:113278457 [GRCh38]
Chr2:114036034 [GRCh37]
Chr2:2q14.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003466.4(PAX8):c.479-68C>T |
single nucleotide variant |
not provided [RCV001615024] |
Chr2:113242198 [GRCh38]
Chr2:113999775 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.778-212T>C |
single nucleotide variant |
not provided [RCV001611941] |
Chr2:113236933 [GRCh38]
Chr2:113994510 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.389+83T>C |
single nucleotide variant |
not provided [RCV001713755] |
Chr2:113244344 [GRCh38]
Chr2:114001921 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.899-185T>G |
single nucleotide variant |
not provided [RCV001614083] |
Chr2:113235767 [GRCh38]
Chr2:113993344 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.778-163C>T |
single nucleotide variant |
not provided [RCV001696035] |
Chr2:113236884 [GRCh38]
Chr2:113994461 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.1190-107A>C |
single nucleotide variant |
not provided [RCV001684461] |
Chr2:113220285 [GRCh38]
Chr2:113977862 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.898+195A>G |
single nucleotide variant |
not provided [RCV001684930] |
Chr2:113236406 [GRCh38]
Chr2:113993983 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.*343G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001129896] |
Chr2:113218190 [GRCh38]
Chr2:113975767 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.122G>A (p.Gly41Asp) |
single nucleotide variant |
not provided [RCV001574478] |
Chr2:113246823 [GRCh38]
Chr2:114004400 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1190-127G>A |
single nucleotide variant |
not provided [RCV001644136] |
Chr2:113220305 [GRCh38]
Chr2:113977882 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.*697C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134911] |
Chr2:113217836 [GRCh38]
Chr2:113975413 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*664T>C |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134912] |
Chr2:113217869 [GRCh38]
Chr2:113975446 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*472C>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134916] |
Chr2:113218061 [GRCh38]
Chr2:113975638 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.97C>T (p.Arg33Cys) |
single nucleotide variant |
not provided [RCV001200130] |
Chr2:113246848 [GRCh38]
Chr2:114004425 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1490G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001129814] |
Chr2:113217043 [GRCh38]
Chr2:113974620 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.280G>A (p.Asp94Asn) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130015] |
Chr2:113244536 [GRCh38]
Chr2:114002113 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1060C>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001132504] |
Chr2:113217473 [GRCh38]
Chr2:113975050 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001133551]|Inborn genetic diseases [RCV002556863]|not specified [RCV002509615] |
Chr2:113235472 [GRCh38]
Chr2:113993049 [GRCh37]
Chr2:2q14.1 |
likely benign|uncertain significance |
| NM_003466.4(PAX8):c.-75-4G>T |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001130727] |
Chr2:113278473 [GRCh38]
Chr2:114036050 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.203C>T (p.Thr68Ile) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001093620] |
Chr2:113244613 [GRCh38]
Chr2:114002190 [GRCh37]
Chr2:2q14.1 |
likely pathogenic |
| NM_003466.4(PAX8):c.*527G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001134914] |
Chr2:113218006 [GRCh38]
Chr2:113975583 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.817G>A (p.Asp273Asn) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001135038] |
Chr2:113236682 [GRCh38]
Chr2:113994259 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.700G>A (p.Glu234Lys) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001135040]|not provided [RCV003229879] |
Chr2:113241628 [GRCh38]
Chr2:113999205 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.*1457G>A |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001129815] |
Chr2:113217076 [GRCh38]
Chr2:113974653 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| GRCh37/hg19 2q13(chr2:113853399-114095549)x1 |
copy number loss |
not provided [RCV001259646] |
Chr2:113853399..114095549 [GRCh37]
Chr2:2q13 |
pathogenic |
| NM_003466.4(PAX8):c.899-226G>C |
single nucleotide variant |
not provided [RCV001663322] |
Chr2:113235808 [GRCh38]
Chr2:113993385 [GRCh37]
Chr2:2q14.1 |
benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003466.4(PAX8):c.91C>T (p.Arg31Cys) |
single nucleotide variant |
not provided [RCV001268079] |
Chr2:113246854 [GRCh38]
Chr2:114004431 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.1277-10A>G |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001331055] |
Chr2:113218619 [GRCh38]
Chr2:113976196 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.580G>A (p.Asp194Asn) |
single nucleotide variant |
not provided [RCV001354562] |
Chr2:113242029 [GRCh38]
Chr2:113999606 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.397C>T (p.Arg133Trp) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270337] |
Chr2:113242771 [GRCh38]
Chr2:114000348 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.777G>C (p.Gln259His) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001331056] |
Chr2:113241551 [GRCh38]
Chr2:113999128 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.101T>A (p.Ile34Asn) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270336] |
Chr2:113246844 [GRCh38]
Chr2:114004421 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.658C>T (p.Arg220Ter) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270341] |
Chr2:113241670 [GRCh38]
Chr2:113999247 [GRCh37]
Chr2:2q14.1 |
pathogenic |
| NM_003466.4(PAX8):c.1189+229G>A |
single nucleotide variant |
not provided [RCV001645964] |
Chr2:113226926 [GRCh38]
Chr2:113984503 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.479-236_479-235del |
microsatellite |
not provided [RCV001615614] |
Chr2:113242365..113242366 [GRCh38]
Chr2:113999942..113999943 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.1087+169_1087+170del |
deletion |
not provided [RCV001684633] |
Chr2:113235224..113235225 [GRCh38]
Chr2:113992801..113992802 [GRCh37]
Chr2:2q14.1 |
benign |
| NM_003466.4(PAX8):c.1189+138A>G |
single nucleotide variant |
not provided [RCV001708734] |
Chr2:113227017 [GRCh38]
Chr2:113984594 [GRCh37]
Chr2:2q14.1 |
benign |
| GRCh37/hg19 2q13-14.1(chr2:113609489-115817535)x3 |
copy number gain |
not provided [RCV001833062] |
Chr2:113609489..115817535 [GRCh37]
Chr2:2q13-14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1109C>T (p.Thr370Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003247010]|not provided [RCV001762935] |
Chr2:113227235 [GRCh38]
Chr2:113984812 [GRCh37]
Chr2:2q14.1 |
likely benign|uncertain significance |
| NM_003466.4(PAX8):c.602-12G>A |
single nucleotide variant |
not provided [RCV001786686] |
Chr2:113241738 [GRCh38]
Chr2:113999315 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.237dup (p.Lys80fs) |
duplication |
Hypothyroidism, congenital, nongoitrous, 2 [RCV001795825] |
Chr2:113244578..113244579 [GRCh38]
Chr2:114002155..114002156 [GRCh37]
Chr2:2q14.1 |
likely pathogenic |
| NM_003466.4(PAX8):c.601A>C (p.Ser201Arg) |
single nucleotide variant |
not provided [RCV001797498] |
Chr2:113242008 [GRCh38]
Chr2:113999585 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| GRCh37/hg19 2q13(chr2:113295194-114085649)x3 |
copy number gain |
not provided [RCV001834499] |
Chr2:113295194..114085649 [GRCh37]
Chr2:2q13 |
uncertain significance |
| GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 |
copy number gain |
not provided [RCV001832896] |
Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3 |
pathogenic |
| GRCh37/hg19 2q13-14.3(chr2:113188197-128144700) |
copy number loss |
not specified [RCV002053220] |
Chr2:113188197..128144700 [GRCh37]
Chr2:2q13-14.3 |
pathogenic |
| NM_003466.4(PAX8):c.754C>G (p.Pro252Ala) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV003485743]|not provided [RCV001903444] |
Chr2:113241574 [GRCh38]
Chr2:113999151 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 |
copy number gain |
2q13q22.3 microduplication syndrome [RCV002226436] |
Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3 |
pathogenic |
| NM_003466.4(PAX8):c.619C>T (p.Arg207Ter) |
single nucleotide variant |
not provided [RCV002223666] |
Chr2:113241709 [GRCh38]
Chr2:113999286 [GRCh37]
Chr2:2q14.1 |
likely pathogenic |
| NM_003466.4(PAX8):c.325G>C (p.Asp109His) |
single nucleotide variant |
not provided [RCV003152268] |
Chr2:113244491 [GRCh38]
Chr2:114002068 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1145del (p.Gly382fs) |
deletion |
not provided [RCV002288087] |
Chr2:113227199 [GRCh38]
Chr2:113984776 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.31G>A (p.Gly11Arg) |
single nucleotide variant |
not provided [RCV002467252] |
Chr2:113246914 [GRCh38]
Chr2:114004491 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1050C>A (p.Ser350=) |
single nucleotide variant |
Inborn genetic diseases [RCV002683350]|not specified [RCV004700981] |
Chr2:113235431 [GRCh38]
Chr2:113993008 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.673A>C (p.Thr225Pro) |
single nucleotide variant |
not provided [RCV002511401] |
Chr2:113241655 [GRCh38]
Chr2:113999232 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.593T>C (p.Met198Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002816852] |
Chr2:113242016 [GRCh38]
Chr2:113999593 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.620G>A (p.Arg207Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002865293] |
Chr2:113241708 [GRCh38]
Chr2:113999285 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1045G>C (p.Ala349Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002888938] |
Chr2:113235436 [GRCh38]
Chr2:113993013 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.601+6T>A |
single nucleotide variant |
Inborn genetic diseases [RCV002712933] |
Chr2:113242002 [GRCh38]
Chr2:113999579 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.466G>A (p.Gly156Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002988012] |
Chr2:113242702 [GRCh38]
Chr2:114000279 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.565G>A (p.Ala189Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002963721] |
Chr2:113242044 [GRCh38]
Chr2:113999621 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1091G>A (p.Arg364Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002724880] |
Chr2:113227253 [GRCh38]
Chr2:113984830 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.162_163delinsGA (p.Ser54_His55delinsArgAsn) |
indel |
not provided [RCV004779927] |
Chr2:113246782..113246783 [GRCh38]
Chr2:114004359..114004360 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.670C>T (p.Arg224Cys) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV003131879] |
Chr2:113241658 [GRCh38]
Chr2:113999235 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1189G>A (p.Gly397Arg) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV003134751] |
Chr2:113227155 [GRCh38]
Chr2:113984732 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.962C>A (p.Pro321His) |
single nucleotide variant |
not provided [RCV003318927] |
Chr2:113235519 [GRCh38]
Chr2:113993096 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.530G>A (p.Gly177Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003373421] |
Chr2:113242079 [GRCh38]
Chr2:113999656 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.530G>T (p.Gly177Val) |
single nucleotide variant |
PAX8-related disorder [RCV003399827] |
Chr2:113242079 [GRCh38]
Chr2:113999656 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 |
copy number loss |
not specified [RCV003986380] |
Chr2:106755586..134302739 [GRCh37]
Chr2:2q12.2-21.2 |
pathogenic |
| NM_003466.4(PAX8):c.205G>A (p.Gly69Ser) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV003985221] |
Chr2:113244611 [GRCh38]
Chr2:114002188 [GRCh37]
Chr2:2q14.1 |
likely pathogenic |
| NM_003466.4(PAX8):c.711G>C (p.Glu237Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004502889] |
Chr2:113241617 [GRCh38]
Chr2:113999194 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.938A>T (p.Glu313Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004502891] |
Chr2:113235543 [GRCh38]
Chr2:113993120 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1310C>T (p.Pro437Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004502887] |
Chr2:113218576 [GRCh38]
Chr2:113976153 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.746A>C (p.Tyr249Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004502890] |
Chr2:113241582 [GRCh38]
Chr2:113999159 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1040A>G (p.His347Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004502886] |
Chr2:113235441 [GRCh38]
Chr2:113993018 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.609G>A (p.Gln203=) |
single nucleotide variant |
Inborn genetic diseases [RCV004502888] |
Chr2:113241719 [GRCh38]
Chr2:113999296 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.974C>A (p.Ser325Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004502892] |
Chr2:113235507 [GRCh38]
Chr2:113993084 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.961C>T (p.Pro321Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004664236] |
Chr2:113235520 [GRCh38]
Chr2:113993097 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1223C>A (p.Thr408Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004651022] |
Chr2:113220145 [GRCh38]
Chr2:113977722 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
| NM_003466.4(PAX8):c.1256T>G (p.Phe419Cys) |
single nucleotide variant |
not provided [RCV004764168] |
|
uncertain significance |
| NM_003466.4(PAX8):c.729G>A (p.Gln243=) |
single nucleotide variant |
not specified [RCV004699829] |
Chr2:113241599 [GRCh38]
Chr2:113999176 [GRCh37]
Chr2:2q14.1 |
likely benign |
| NM_003466.4(PAX8):c.591A>C (p.Lys197Asn) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 2 [RCV004764498] |
Chr2:113242018 [GRCh38]
Chr2:113999595 [GRCh37]
Chr2:2q14.1 |
uncertain significance |
