A total 147 pathogenic variants reported in gene thyroid hormone receptor interactor 11 (TRIP11)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) SNV
Germline		 Chr14:92015729 Pathogenic Achondrogenesis, type IA
Odontochondrodysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117560 rs_267607138

4 SubmittersRCV000005843RCV000757981
NM_004239.4(TRIP11):c.202-2A>G SNV
Germline		 Chr14:92025422 Likely pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA278859 rs_863223281

2 SubmittersRCV000005845
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) SNV
Germline		 Chr14:92005874 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided
Connective tissue disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA117563 rs_139539448

7 SubmittersRCV000005846RCV000725982RCV002276533RCV006700665
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) SNV
Germline		 Chr14:92003913 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA239559 rs_138661581

4 SubmittersRCV000174095RCV000340266RCV004965293
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) SNV
Germline		 Chr14:91993832 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
Connective tissue disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA240512 rs_137974620

8 SubmittersRCV000724732RCV001085934RCV002277346RCV002516651
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) SNV
Germline		 Chr14:91976152 Conflicting classifications of pathogenicity not specified
Condition: not provided
Achondrogenesis, type IA
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA201336 rs_145868557

7 SubmittersRCV000175183RCV000841294RCV001089222RCV003927601
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) SNV
Germline		 Chr14:92021762 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA245239 rs_141553918

8 SubmittersRCV000178208RCV000684947RCV002277400
NM_004239.4(TRIP11):c.5574+19C>A SNV
Germline		 Chr14:91974608 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA		 Criteria Provided
Conflicting Classifications
 CA7313114 rs_561150244

2 SubmittersRCV000358083RCV002059094
NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=) SNV
Germline		 Chr14:92003803 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA		 Criteria Provided
Conflicting Classifications
 CA7313508 rs_140070005

2 SubmittersRCV000388307RCV001086094
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) SNV
Germline		 Chr14:92000046 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
not specified		 Criteria Provided
Conflicting Classifications
 CA7313405 rs_72705400

6 SubmittersRCV000299952RCV001080898RCV004800372
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) SNV
Germline		 Chr14:91974664 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
Connective tissue disorder
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA7313124 rs_141259390

6 SubmittersRCV000726133RCV001088960RCV002278312RCV003910010
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) SNV
Germline		 Chr14:92004372 Conflicting classifications of pathogenicity not specified
Achondrogenesis, type IA
Condition: not provided
Connective tissue disorder
Inborn genetic diseases
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA7313606 rs_41301481

10 SubmittersRCV000359112RCV000755412RCV001705435RCV002278324RCV002518149RCV003910042
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) SNV
Germline		 Chr14:91974630 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7313115 rs_369316409

2 SubmittersRCV000390612
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) SNV
Germline		 Chr14:92004876 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Inborn genetic diseases
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA7313685 rs_200739251

4 SubmittersRCV000312673RCV003165849RCV003930349
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) SNV
Germline		 Chr14:92006202 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA7313876 rs_199768095

4 SubmittersRCV000731242RCV001079434RCV003910187
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) SNV
Germline		 Chr14:92005147 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA7313718 rs_758437737

4 SubmittersRCV000325942RCV006650067RCV006701312
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) SNV
Germline		 Chr14:92005619 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Odontochondrodysplasia 1
Achondrogenesis, type IA		 Criteria Provided
Conflicting Classifications
 CA7313789 rs_201394520

3 SubmittersRCV000380572RCV005396952
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) SNV
Germline		 Chr14:92021706 Conflicting classifications of pathogenicity Achondrogenesis, type IA
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA7314188 rs_371786500

3 SubmittersRCV000354648RCV003957634
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) SNV
Germline		 Chr14:92003817 Conflicting classifications of pathogenicity not specified
Achondrogenesis, type IA
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7313512 rs_201607866

4 SubmittersRCV000508397RCV000893258RCV003278760
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) SNV
Germline		 Chr14:92005309 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7313739 rs_140106241

3 SubmittersRCV000329288RCV001564159
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) SNV
Germline		 Chr14:92011020 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA7313969 rs_34761938

4 SubmittersRCV000406125RCV000593586RCV002278417
NM_004239.4(TRIP11):c.183T>C (p.His61=) SNV
Germline		 Chr14:92033210 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7314277 rs_138904373

2 SubmittersRCV000320601
NM_004239.4(TRIP11):c.-24G>A SNV
Germline		 Chr14:92039709 Conflicting classifications of pathogenicity Achondrogenesis, type IA
not specified		 Criteria Provided
Conflicting Classifications
 CA7314332 rs_199937850

2 SubmittersRCV000345286RCV000616164
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) SNV
Germline		 Chr14:91969784 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7313040 rs_748903681

3 SubmittersRCV000296490RCV000591240
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) SNV
Germline		 Chr14:91969802 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7313043 rs_748645116

2 SubmittersRCV000344408
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) SNV
Germline		 Chr14:92003533 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7313455 rs_372272441

2 SubmittersRCV000288620
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) SNV
Germline		 Chr14:92004310 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7313595 rs_769979770

2 SubmittersRCV000405477
NM_004239.4(TRIP11):c.1186+14G>A SNV
Germline		 Chr14:92014201 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7314014 rs_371492052

2 SubmittersRCV000312943
NM_004239.4(TRIP11):c.5057-9T>G SNV
Germline		 Chr14:91993921 Conflicting classifications of pathogenicity not specified
Achondrogenesis, type IA
Ovarian serous cystadenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA7313291 rs_372161255

5 SubmittersRCV000438297RCV000963313RCV005898112
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) SNV
Germline		 Chr14:92021652 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7314178 rs_367632896

3 SubmittersRCV000953690RCV001704517
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr) SNV
Germline		 Chr14:91969726 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7313033 rs_61742059

4 SubmittersRCV000488927RCV002063835RCV004023259
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) SNV
Germline		 Chr14:91972807 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
TRIP11-related disorder
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA7313094 rs_148261539

8 SubmittersRCV000729388RCV001087540RCV003915465RCV002279309
NM_004239.4(TRIP11):c.5085C>T (p.Leu1695=) SNV
Germline		 Chr14:91993884 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA		 Criteria Provided
Conflicting Classifications
 CA7313284 rs_138379032

2 SubmittersRCV000593601RCV003614051
NM_004239.4(TRIP11):c.1184C>T (p.Ser395Phe) SNV
Germline		 Chr14:92014217 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA265619199 rs_759965071

3 SubmittersRCV000603021RCV005243307RCV005762060
NM_004239.4(TRIP11):c.4557+1G>T SNV
Germline		 Chr14:92003418 Pathogenic Odontochondrodysplasia 1 Criteria Provided
Single Submitter
 CA390648628 rs_1555386022

1 SubmittersRCV000625983
NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter) SNV
Germline		 Chr14:92005938 Pathogenic Odontochondrodysplasia 1 Criteria Provided
Single Submitter
 CA390658817 rs_1400419650

1 SubmittersRCV000625982
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) SNV
Germline		 Chr14:92011020 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390662935 rs_34761938

1 SubmittersRCV000693887
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) SNV
Germline		 Chr14:92005419 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA265611506 rs_1053206465

1 SubmittersRCV000707638
NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala) SNV
Germline		 Chr14:92006024 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7313853 rs_35991093

4 SubmittersRCV000733957RCV001078613RCV005512811
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) SNV
Germline		 Chr14:92021558 Pathogenic Odontochondrodysplasia 1 Criteria Provided
Single Submitter
 CA7314156 rs_149079426

2 SubmittersRCV000853509
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) SNV
Germline		 Chr14:92003442 Likely pathogenic Odontochondrodysplasia 1 Criteria Provided
Single Submitter
 CA7313440 rs_780625551

2 SubmittersRCV000853510
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) SNV
Germline		 Chr14:92011072 Likely pathogenic Odontochondrodysplasia 1 Criteria Provided
Single Submitter
 CA390663045 rs_1566863801

2 SubmittersRCV000853508
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) SNV
Germline		 Chr14:91975213 Likely pathogenic Odontochondrodysplasia 1 Criteria Provided
Single Submitter
 CA390644523 rs_1566843321

2 SubmittersRCV000853511
NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) SNV
Unknown		 Chr14:92003849 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390650374 rs_1045076800

1 SubmittersRCV000853520
NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter) SNV
Germline		 Chr14:92004014 Likely pathogenic Achondrogenesis, type IA
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7313545 rs_745372938

2 SubmittersRCV000853519RCV001597222
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) SNV
Germline		 Chr14:92004305 Pathogenic Achondrogenesis, type IA
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7313593 rs_776935608

3 SubmittersRCV000853513RCV003489941
NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter) SNV
Unknown		 Chr14:92004498 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390652357 rs_1595387492

1 SubmittersRCV000853512
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) SNV
Germline		 Chr14:92003907 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA7313528 rs_144829001

5 SubmittersRCV000888578RCV001593124RCV003948399
NM_004239.4(TRIP11):c.1146A>G (p.Ala382=) SNV
Germline		 Chr14:92014255 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7314024 rs_377371591

2 SubmittersRCV001120670
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=) SNV
Germline		 Chr14:91969724 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA7313032 rs_142075650

4 SubmittersRCV000895196RCV001120382RCV003922846
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=) SNV
Germline		 Chr14:92003848 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7313519 rs_373454645

2 SubmittersRCV001117015
NM_004239.4(TRIP11):c.477C>T (p.Asp159=) SNV
Germline		 Chr14:92021667 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7314183 rs_147932068

2 SubmittersRCV001115755
NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=) SNV
Germline		 Chr14:91976116 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
Colon adenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA487569867 rs_1278413331

3 SubmittersRCV000995242RCV002067608RCV005912214
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=) SNV
Germline		 Chr14:91972829 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7313096 rs_764596712

2 SubmittersRCV001115488
NM_004239.4(TRIP11):c.5469C>T (p.Asp1823=) SNV
Germline		 Chr14:91974732 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7313134 rs_762580256

3 SubmittersRCV001116904RCV004809019
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=) SNV
Germline		 Chr14:92003770 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7313503 rs_746081059

2 SubmittersRCV001115581
NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn) SNV
Germline		 Chr14:92003914 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Odontochondrodysplasia 1
Achondrogenesis, type IA		 Criteria Provided
Conflicting Classifications
 CA7313530 rs_775138686

3 SubmittersRCV001117016RCV004726888
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) SNV
Germline		 Chr14:92007735 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Inborn genetic diseases
TRIP11-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7313934 rs_201112407

5 SubmittersRCV001118737RCV003283987RCV003906222RCV004706019
NM_004239.4(TRIP11):c.9C>T (p.Ser3=) SNV
Germline		 Chr14:92039677 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7314328 rs_148398142

2 SubmittersRCV001117188
NM_004239.4(TRIP11):c.657+9A>C SNV
Germline		 Chr14:92017673 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7314131 rs_182914589

2 SubmittersRCV001115753
NM_004239.4(TRIP11):c.202-11T>G SNV
Germline		 Chr14:92025431 Conflicting classifications of pathogenicity Achondrogenesis, type IA Criteria Provided
Conflicting Classifications
 CA7314259 rs_561503305

2 SubmittersRCV001117187
NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter) SNV
Germline		 Chr14:92005365 Pathogenic Achondrogenesis, type IA Criteria Provided
Multiple Submitters
No Conflicts
 CA265611436 rs_999557873

2 SubmittersRCV001329831
NM_004239.4(TRIP11):c.5457+81T>A SNV
Germline		 Chr14:91975091 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA2499222783 rs_2056447170

1 SubmittersRCV001420138
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) SNV
Germline		 Chr14:92004894 Pathogenic/Likely pathogenic Achondrogenesis, type IA Criteria Provided
Multiple Submitters
No Conflicts
 CA7313688 rs_149562813

2 SubmittersRCV001449731
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn) SNV
Germline		 Chr14:92006387 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA
TRIP11-related disorder		 Criteria Provided
Conflicting Classifications
 CA7313897 rs_138304419

4 SubmittersRCV001550030RCV002072031RCV003948582
NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val) SNV
Germline		 Chr14:91975209 Likely pathogenic Achondrogenesis, type IA
Odontochondrodysplasia 1		 Criteria Provided
Single Submitter
 CA390644509 rs_2056449254

1 SubmittersRCV001844308RCV003992536
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter) SNV
Germline		 Chr14:92015756 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390664677 rs_2140131376

2 SubmittersRCV001844309
NM_004239.4(TRIP11):c.321C>T (p.Ile107=) SNV
Germline		 Chr14:92021823 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis, type IA		 Criteria Provided
Conflicting Classifications
 CA7314212 rs_372045593

2 SubmittersRCV001769898RCV002077203
NM_004239.4(TRIP11):c.588+2T>C SNV
Germline		 Chr14:92021554 Likely pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390665104 rs_2057114964

1 SubmittersRCV001885171
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter) SNV
Germline		 Chr14:92021618 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA7314165 rs_758589172

2 SubmittersRCV001822983
NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter) SNV
Germline		 Chr14:92005194 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390655898 rs_1257379792

1 SubmittersRCV001933103
NM_004239.4(TRIP11):c.2075A>G (p.Gln692Arg) SNV
Germline		 Chr14:92005901 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7313836 rs_369502177

3 SubmittersRCV001938894RCV003883722
NM_004239.4(TRIP11):c.2303A>G (p.Asn768Ser) SNV
Germline		 Chr14:92005673 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7313798 rs_140780067

2 SubmittersRCV001903742RCV002555398
NM_004239.4(TRIP11):c.2355G>A (p.Met785Ile) SNV
Germline		 Chr14:92005621 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7313791 rs_373362974

2 SubmittersRCV002129793RCV005288725
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=) SNV
Germline		 Chr14:92005960 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA7313845 rs_144317897

2 SubmittersRCV002129606RCV002277022
NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter) SNV
Germline		 Chr14:92014320 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA390663923 rs_2057009434

1 SubmittersRCV002278814
NM_004239.4(TRIP11):c.1735C>T (p.Gln579Ter) SNV
Germline		 Chr14:92006241 Pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA390660256 rs_2056901001

1 SubmittersRCV002278815
NM_004239.4(TRIP11):c.975A>G (p.Ala325=) SNV
Germline		 Chr14:92014426 Conflicting classifications of pathogenicity Connective tissue disorder
Achondrogenesis, type IA		 Criteria Provided
Conflicting Classifications
 CA7314044 rs_143126491

2 SubmittersRCV002278819RCV003505203
NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter) SNV
Germline		 Chr14:91976181 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390644857 rs_1368101093

1 SubmittersRCV002471392
NM_004239.4(TRIP11):c.1186+1G>C SNV
Germline		 Chr14:92014214 Likely pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA7314016 rs_756320900

1 SubmittersRCV002600741
NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter) SNV
Germline		 Chr14:91975237 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA7313172 rs_760028443

1 SubmittersRCV002857141
NM_004239.4(TRIP11):c.5575-1G>A SNV
Germline		 Chr14:91972862 Likely pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390644146 rs_1314677608

1 SubmittersRCV002914585
NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys) SNV
Germline		 Chr14:92003558 Conflicting classifications of pathogenicity Achondrogenesis, type IA
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7313461 rs_748241066

2 SubmittersRCV003009332RCV005288870
NM_004239.4(TRIP11):c.5408T>G (p.Leu1803Ter) SNV
Unknown		 Chr14:91975221 Pathogenic See cases Criteria Provided
Single Submitter
 CA390644537 rs_2542959912

1 SubmittersRCV003128542
NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter) SNV
Germline		 Chr14:92015762 Pathogenic TRIP11-related disorder
Achondrogenesis, type IA		 Criteria Provided
Single Submitter
 CA265620735 rs_981921410

2 SubmittersRCV003410448RCV004577574
NM_004239.4(TRIP11):c.4036C>T (p.Gln1346Ter) SNV
Germline		 Chr14:92003940 Likely pathogenic TRIP11-related disorder Criteria Provided
Single Submitter
 CA390650683 rs_2543025683

1 SubmittersRCV003402819
NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter) SNV
Germline		 Chr14:91974682 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390644275 rs_2056442109

1 SubmittersRCV003505610
NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter) SNV
Germline		 Chr14:92004708 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390653338 rs_2543029378

1 SubmittersRCV003614602
NM_004239.4(TRIP11):c.5057-1G>A SNV
Germline		 Chr14:91993913 Likely pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390645584 rs_2542999715

1 SubmittersRCV003830855
NM_004239.4(TRIP11):c.5343-1G>C SNV
Germline		 Chr14:91975287 Likely pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter
 CA390644686 rs_754936373

1 SubmittersRCV003866573
NM_004239.4(TRIP11):c.1438G>T (p.Glu480Ter) SNV
Germline		 Chr14:92007729 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter

1 SubmittersRCV004732506
NM_004239.4(TRIP11):c.3499C>T (p.Arg1167Ter) SNV
Germline		 Chr14:92004477 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter

1 SubmittersRCV005191813
NM_004239.4(TRIP11):c.5272C>T (p.Gln1758Ter) SNV
Germline		 Chr14:91976178 Pathogenic/Likely pathogenic Achondrogenesis, type IA
TRIP11-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005623277RCV006706543
NM_004239.4(TRIP11):c.5160+1G>T SNV
Germline		 Chr14:91993808 Likely pathogenic Odontochondrodysplasia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005860933
NM_004239.4(TRIP11):c.187A>G (p.Ile63Val) SNV
Germline		 Chr14:92033206 Conflicting classifications of pathogenicity Inborn genetic diseases
Achondrogenesis, type IA		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV006387733RCV006480264
NM_004239.4(TRIP11):c.588+1G>A SNV
Germline		 Chr14:92021555 Likely pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter

1 SubmittersRCV006519715
NM_004239.4(TRIP11):c.533C>G (p.Ser178Ter) SNV
Germline		 Chr14:92021611 Pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter

1 SubmittersRCV006526128
NM_004239.4(TRIP11):c.1186+1G>A SNV
Germline		 Chr14:92014214 Likely pathogenic Achondrogenesis, type IA Criteria Provided
Single Submitter

1 SubmittersRCV006545354
NM_004239.4(TRIP11):c.2920C>T (p.Gln974Ter) SNV
Germline		 Chr14:92005056 Likely pathogenic Achondrogenesis, type IA
Odontochondrodysplasia 1		 Criteria Provided
Single Submitter

1 SubmittersRCV006686319
NM_004239.4(TRIP11):c.673C>T (p.Arg225Ter) SNV
Germline		 Chr14:92015846 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006699028