Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	SNV Germline	Chr5:149980428	Pathogenic/Likely pathogenic	Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Condition: not provided Sulfate transporter-related osteochondrodysplasia SLC26A2-related disorder Inborn genetic diseases Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB 3MC syndrome 2 Connective tissue disorder not specified Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA252990	rs_104893915	28 SubmittersRCV000004305 RCV000004306 RCV000004307 RCV000266165 RCV000586600 RCV000275762 RCV000624686 RCV000641290 RCV001030753 RCV002276530 RCV000999764 RCV001030752
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)	SNV Germline	Chr5:149980357	Conflicting classifications of pathogenicity	Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Osteochondrodysplasia	Criteria Provided Conflicting Classifications	CA252992	rs_104893917	4 SubmittersRCV000004308 RCV000675076 RCV001851640 RCV003230347
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)	SNV Germline	Chr5:149981737	Conflicting classifications of pathogenicity	Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Achondrogenesis, type IB	Criteria Provided Conflicting Classifications	CA252994	rs_104893918	4 SubmittersRCV000004309 RCV000675095 RCV000797878 RCV003472968
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	SNV Germline	Chr5:149978184	Pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB SLC26A2-related disorder Condition: not provided 3MC syndrome 2 Sulfate transporter-related osteochondrodysplasia	Criteria Provided Multiple Submitters No Conflicts	CA259839	rs_104893919	18 SubmittersRCV000004310 RCV000023568 RCV000175526 RCV000411745 RCV000690242 RCV000779467 RCV000412934 RCV001030754 RCV000590163
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	SNV Germline	Chr5:149980866	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts	CA259842	rs_104893920	5 SubmittersRCV000023569 RCV000055757 RCV001851641
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)	SNV Germline	Chr5:149981626	Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Osteochondrodysplasia	Criteria Provided Multiple Submitters No Conflicts	CA259844	rs_104893916	4 SubmittersRCV000023570 RCV000055761 RCV000169017 RCV003234891
NM_000112.4(SLC26A2):c.-26+2T>C	SNV Germline	Chr5:149960981	Pathogenic	Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Condition: not provided Multiple epiphyseal dysplasia type 4 SLC26A2-related disorder Achondrogenesis, type IB 3MC syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA340160	rs_386833492	14 SubmittersRCV000004312 RCV000763135 RCV000780711 RCV000991163 RCV000724163 RCV000597319 RCV000779466 RCV001030744 RCV001030745
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	SNV Germline	Chr5:149981550	Pathogenic/Likely pathogenic	Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Condition: not provided Atelosteogenesis type II Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia 3MC syndrome 2 SLC26A2-related disorder Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA252996	rs_104893924	20 SubmittersRCV000004313 RCV000055760 RCV000224702 RCV000409936 RCV000477884 RCV000411019 RCV000780712 RCV001030750 RCV001813733 RCV002276531
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)	SNV Germline	Chr5:149981128	Pathogenic	De la Chapelle dysplasia Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Single Submitter	CA116649	rs_121908078	2 SubmittersRCV000004314 RCV000004315 RCV002512749
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	3 SubmittersRCV000005843 RCV000757981
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	Criteria Provided Conflicting Classifications	CA117563	rs_139539448	5 SubmittersRCV000005846 RCV000725982 RCV002276533
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	SNV Germline	Chr12:47994041	Pathogenic	Spondyloepiphyseal dysplasia with metatarsal shortening Condition: not provided Stickler syndrome type 1 Acetabular dysplasia Achondrogenesis type II	Criteria Provided Multiple Submitters No Conflicts	CA127158	rs_121912876	8 SubmittersRCV000018912 RCV001385337 RCV000988828 RCV003228897 RCV003323361
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser)	SNV Germline	Chr12:47978389	Pathogenic	Achondrogenesis type II	No Assertion Criteria Provided	CA250680	rs_121912878	1 SubmittersRCV000018915
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg)	SNV Germline	Chr12:47980017	Pathogenic	Achondrogenesis type II	No Assertion Criteria Provided	CA250699	rs_121912879	1 SubmittersRCV000022480
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	SNV Germline	Chr12:47985575	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided Retinal dystrophy Achondrogenesis type II Stickler syndrome, type I, nonsyndromic ocular COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281746	rs_121912884	11 SubmittersRCV000018926 RCV000413561 RCV001074673 RCV001197973 RCV001807733 RCV004528123
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)	SNV Germline	Chr12:47985946	Pathogenic	Achondrogenesis type II	No Assertion Criteria Provided	CA250701	rs_121912888	1 SubmittersRCV000022481
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val)	SNV Unknown	Chr12:47985771	Pathogenic	Achondrogenesis type II	No Assertion Criteria Provided	CA250704	rs_121912899	1 SubmittersRCV000022483
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val)	SNV Germline	Chr5:149980750	Pathogenic/Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA263247	rs_386833493	3 SubmittersRCV000049421 RCV001388086 RCV003474627
NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter)	SNV Unknown	Chr5:149977699	Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Single Submitter	CA263266	rs_386833505	2 SubmittersRCV000049433 RCV003474628
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)	SNV Germline	Chr5:149977707	Pathogenic/Likely pathogenic	Diastrophic dysplasia Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA263272	rs_386833507	4 SubmittersRCV000049435 RCV000780714 RCV001853039 RCV004566897
NM_000112.4(SLC26A2):c.700-1G>C	SNV Germline	Chr5:149980292	Pathogenic/Likely pathogenic	Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA263275	rs_200963884	5 SubmittersRCV000049436 RCV000169177 RCV001264500 RCV002496723 RCV003474629
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys)	SNV Germline	Chr5:149977824	Conflicting classifications of pathogenicity	Condition: not provided Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA216019	rs_369318758	5 SubmittersRCV000054570 RCV001069051 RCV001271550 RCV004018969
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr)	SNV Germline	Chr14:92003913	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IA	Criteria Provided Conflicting Classifications	CA239559	rs_138661581	3 SubmittersRCV000174095 RCV000340266
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 SubmittersRCV000724732 RCV001085934 RCV002277346 RCV002516651
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	6 SubmittersRCV000175183 RCV000841294 RCV001089222 RCV003927601
NM_000112.4(SLC26A2):c.24A>G (p.Gln8=)	SNV Germline	Chr5:149977676	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA241280	rs_372345029	2 SubmittersRCV000175525 RCV001493097
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)	SNV Germline	Chr5:149980580	Conflicting classifications of pathogenicity	not specified Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA243097	rs_116302615	9 SubmittersRCV000176984 RCV000269903 RCV000327465 RCV000333258 RCV000362143 RCV000384318 RCV000884358 RCV001704842 RCV002277384
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 SubmittersRCV000178208 RCV000684947 RCV002277400
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=)	SNV Germline	Chr5:149980787	Conflicting classifications of pathogenicity	not specified Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA10586908	rs_886038240	5 SubmittersRCV000253229 RCV000886985 RCV001156843 RCV001156844 RCV001156845 RCV001156846 RCV001156847 RCV001552260
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=)	SNV Germline	Chr5:149981354	Conflicting classifications of pathogenicity	not specified Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA3505485	rs_745590895	3 SubmittersRCV000250262 RCV001157069 RCV001157070 RCV001157071 RCV001157072 RCV000933853 RCV001157073
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=)	SNV Germline	Chr5:149981639	Conflicting classifications of pathogenicity	not specified Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA3505542	rs_116657359	3 SubmittersRCV000242222 RCV001154667 RCV001154669 RCV001154670 RCV001154671 RCV000898816 RCV001154668
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)	SNV Germline	Chr5:149977881	Conflicting classifications of pathogenicity	not specified Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Condition: not provided Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA3505223	rs_76784312	11 SubmittersRCV000398136 RCV000539759 RCV000987616 RCV001154133 RCV001812767 RCV001154972 RCV001154973 RCV001154974
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 SubmittersRCV000358083 RCV002059094
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 SubmittersRCV000388307 RCV001086094
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile)	SNV Germline	Chr5:149981105	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Condition: not provided Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA3505452	rs_76668544	4 SubmittersRCV000259647 RCV000299908 RCV000354703 RCV000367416 RCV000361664 RCV000407213 RCV001084518
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)	SNV Germline	Chr14:92000046	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IA	Criteria Provided Conflicting Classifications	CA7313405	rs_72705400	4 SubmittersRCV000299952 RCV001080898
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)	SNV Germline	Chr5:149981680	Conflicting classifications of pathogenicity	not specified Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Achondrogenesis, type IB Condition: not provided	Criteria Provided Conflicting Classifications	CA3505551	rs_34351171	5 SubmittersRCV000324346 RCV000956326 RCV001271508 RCV001707611
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)	SNV Germline	Chr14:91974664	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IA TRIP11-related disorder Connective tissue disorder	Criteria Provided Conflicting Classifications	CA7313124	rs_141259390	6 SubmittersRCV000726133 RCV001088960 RCV003910010 RCV002278312
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr)	SNV Germline	Chr5:149980674	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia Connective tissue disorder Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA3505383	rs_139051143	6 SubmittersRCV000390686 RCV000705851 RCV001155190 RCV001155191 RCV001155192 RCV001156841 RCV002278323 RCV001156842
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 Inborn genetic diseases Connective tissue disorder TRIP11-related disorder	Criteria Provided Conflicting Classifications	CA7313606	rs_41301481	9 SubmittersRCV000359112 RCV000755412 RCV001705435 RCV002518149 RCV002278324 RCV003910042
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)	SNV Germline	Chr12:47985772	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Achondrogenesis type II	Criteria Provided Multiple Submitters No Conflicts	CA10606903	rs_886044555	6 SubmittersRCV000489443 RCV000622408 RCV003987496
NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=)	SNV Germline	Chr5:149981738	Conflicting classifications of pathogenicity	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA10619660	rs_886060225	2 SubmittersRCV000282853 RCV000286307 RCV000341256 RCV000347222 RCV000399332 RCV000932235
NM_000112.4(SLC26A2):c.*330G>T	SNV Germline	Chr5:149982143	Conflicting classifications of pathogenicity	Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Condition: not provided	Criteria Provided Conflicting Classifications	CA10619669	rs_191884433	2 SubmittersRCV000289233 RCV000325584 RCV000329202 RCV000383622 RCV000389504 RCV001812899
NM_000112.4(SLC26A2):c.*4799G>A	SNV Germline	Chr5:149986612	Conflicting classifications of pathogenicity	Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA10619694	rs_72832119	2 SubmittersRCV000259349 RCV000281580 RCV000316963 RCV000373808 RCV000389033 RCV001785596
NM_000112.4(SLC26A2):c.*4930C>T	SNV Germline	Chr5:149986743	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Achondrogenesis, type IB Condition: not provided	Criteria Provided Conflicting Classifications	CA10619696	rs_79521091	2 SubmittersRCV000288906 RCV000311342 RCV000346456 RCV000368386 RCV000395422 RCV001786379
NM_000112.4(SLC26A2):c.993A>C (p.Ala331=)	SNV Germline	Chr5:149980586	Conflicting classifications of pathogenicity	Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA3505363	rs_772104667	2 SubmittersRCV000282962 RCV000287065 RCV000321645 RCV000335056 RCV000379231 RCV002520336
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=)	SNV Germline	Chr5:149981354	Conflicting classifications of pathogenicity	Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA3505486	rs_745590895	2 SubmittersRCV000292288 RCV000298312 RCV000343265 RCV000337977 RCV000400969 RCV001481174
NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys)	SNV Germline	Chr5:149981722	Conflicting classifications of pathogenicity	Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA3505558	rs_374692915	2 SubmittersRCV000281557 RCV000336484 RCV000330490 RCV000372485 RCV000376030 RCV001439481
NM_000112.4(SLC26A2):c.-183G>C	SNV Germline	Chr5:149960822	Conflicting classifications of pathogenicity	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia	Criteria Provided Conflicting Classifications	CA10623607	rs_540241474	1 SubmittersRCV000282159 RCV000295556 RCV000348865 RCV000374396 RCV000387555
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)	SNV Germline	Chr5:149980639	Conflicting classifications of pathogenicity	Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Condition: not provided	Criteria Provided Conflicting Classifications	CA3505378	rs_114212275	8 SubmittersRCV000281048 RCV000312752 RCV000338459 RCV000399511 RCV000390859 RCV000765823 RCV000591740
NM_000112.4(SLC26A2):c.*205G>A	SNV Germline	Chr5:149982018	Conflicting classifications of pathogenicity	Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Conflicting Classifications	CA10623612	rs_115383424	1 SubmittersRCV000284300 RCV000316326 RCV000320599 RCV000384454 RCV000378809
NM_000112.4(SLC26A2):c.*1970G>T	SNV Germline	Chr5:149983783	Conflicting classifications of pathogenicity	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Conflicting Classifications	CA10623616	rs_147208348	1 SubmittersRCV000262117 RCV000279719 RCV000319588 RCV000341640 RCV000371915
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 SubmittersRCV000312673 RCV003165849 RCV003930349
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 SubmittersRCV000731242 RCV001079434 RCV003910187
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=)	SNV Germline	Chr14:92005147	Conflicting classifications of pathogenicity	Achondrogenesis, type IA	Criteria Provided Conflicting Classifications	CA7313718	rs_758437737	2 SubmittersRCV000325942
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala)	SNV Germline	Chr14:92005619	Conflicting classifications of pathogenicity	Achondrogenesis, type IA	Criteria Provided Conflicting Classifications	CA7313789	rs_201394520	2 SubmittersRCV000380572
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 SubmittersRCV000354648 RCV003957634
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys)	SNV Germline	Chr14:92003817	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Achondrogenesis, type IA	Criteria Provided Conflicting Classifications	CA7313512	rs_201607866	4 SubmittersRCV000508397 RCV003278760 RCV000893258
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 SubmittersRCV000329288 RCV001564159
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 SubmittersRCV000406125 RCV000593586 RCV002278417
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 SubmittersRCV000345286 RCV000616164
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 SubmittersRCV000296490 RCV000591240
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.1186+14G>A	SNV Germline	Chr14:92014201	Conflicting classifications of pathogenicity	Achondrogenesis, type IA	Criteria Provided Conflicting Classifications	CA7314014	rs_371492052	2 SubmittersRCV000312943
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)	SNV Unknown	Chr5:149977837	Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts	CA16040984	rs_1057517523	2 SubmittersRCV000409914 RCV000410073 RCV000409043 RCV000411463
NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter)	SNV Unknown	Chr5:149978193	Likely pathogenic	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Single Submitter	CA16040988	rs_1057517483	1 SubmittersRCV000409182 RCV000410110 RCV000411159 RCV000412066
NM_000112.4(SLC26A2):c.699+2T>C	SNV Unknown	Chr5:149978353	Pathogenic	Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Single Submitter	CA16040989	rs_1057517461	1 SubmittersRCV000409387 RCV000410512 RCV000411790 RCV000411619
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter)	SNV Germline	Chr5:149980339	Pathogenic/Likely pathogenic	Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts	CA16040991	rs_1057517514	3 SubmittersRCV000409471 RCV000410567 RCV000409703 RCV000411690 RCV003766136
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)	SNV Germline	Chr5:149980653	Pathogenic/Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA16040994	rs_1057517532	2 SubmittersRCV000410579 RCV000410391 RCV000411229 RCV000409259 RCV001218289
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)	SNV Unknown	Chr12:47976531	Likely pathogenic	Narrow chest Disproportionate short-limb short stature Achondrogenesis type II	Criteria Provided Single Submitter	CA16043470	rs_1057518911	1 SubmittersRCV000415337 RCV001196300
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)	SNV Germline	Chr12:47978098	Pathogenic	Short ribs Absent vertebral body mineralization Achondrogenesis type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043471	rs_765795867	2 SubmittersRCV000415214 RCV001196261 RCV002524665
NM_004239.4(TRIP11):c.5057-9T>G	SNV Germline	Chr14:91993921	Conflicting classifications of pathogenicity	not specified Achondrogenesis, type IA	Criteria Provided Conflicting Classifications	CA7313291	rs_372161255	3 SubmittersRCV000438297 RCV000963313
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 SubmittersRCV000953690 RCV001704517
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 SubmittersRCV000488927 RCV002063835 RCV004023259
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)	SNV Germline	Chr12:47977626	Likely pathogenic	not specified Achondrogenesis type II	Criteria Provided Multiple Submitters No Conflicts	CA384540546	rs_1555165245	2 SubmittersRCV000507539 RCV001198649
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)	SNV Germline	Chr12:47974271	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis type II	Criteria Provided Conflicting Classifications	CA6534529	rs_141951587	3 SubmittersRCV000520302 RCV001805138
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)	SNV Germline	Chr14:91972807	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IA Connective tissue disorder TRIP11-related disorder	Criteria Provided Conflicting Classifications	CA7313094	rs_148261539	8 SubmittersRCV000729388 RCV001087540 RCV002279309 RCV003915465
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)	SNV Germline	Chr12:47983699	Pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter	CA384548391	rs_1555166729	1 SubmittersRCV000578377
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)	SNV Germline	Chr5:149981300	Pathogenic/Likely pathogenic	Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA361708540	rs_766836061	3 SubmittersRCV000588352 RCV000809074 RCV003471936
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)	SNV Germline	Chr12:47977616	Likely pathogenic	Condition: not provided Achondrogenesis type II	Criteria Provided Multiple Submitters No Conflicts	CA384540524	rs_1555165242	3 SubmittersRCV000593974 RCV001822860
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 SubmittersRCV000593601 RCV003614051
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser)	SNV Germline	Chr5:149980360	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Achondrogenesis, type IB	Criteria Provided Conflicting Classifications		rs_1419613966	3 SubmittersRCV000667661 RCV002530719 RCV003472088
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter)	SNV Germline	Chr5:149981690	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Conflicting Classifications		rs_761932822	2 SubmittersRCV000670801 RCV003767990
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)	SNV Germline	Chr5:149981357	Pathogenic/Likely pathogenic	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts		rs_1554095364	3 SubmittersRCV000665350 RCV001855439 RCV003472070
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)	SNV Germline	Chr5:149980369	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Condition: not provided Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Conflicting Classifications		rs_769319202	3 SubmittersRCV000671782 RCV002531295 RCV002532114
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)	SNV Germline	Chr5:149981580	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 SLC26A2-related disorder Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Conflicting Classifications		rs_1554095397	6 SubmittersRCV000665405 RCV000779468 RCV001175534 RCV001388087 RCV001835070
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro)	SNV Germline	Chr5:149981587	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Conflicting Classifications		rs_141798540	2 SubmittersRCV000671750 RCV002531294
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)	SNV Germline	Chr14:92011020	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		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		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	Criteria Provided Conflicting Classifications		rs_35991093	3 SubmittersRCV000733957 RCV001078613
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter)	SNV Germline	Chr14:92021558	Conflicting classifications of pathogenicity	Achondrogenesis, type IA Odontochondrodysplasia 1	Criteria Provided Conflicting Classifications		rs_149079426	3 SubmittersRCV000778421 RCV000853509
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)	SNV Germline	Chr12:47986343	Likely pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter		rs_868417981	1 SubmittersRCV000781310
NM_001844.5(COL2A1):c.1680+2T>G	SNV Germline	Chr12:47985726	Likely pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter		rs_1565681966	1 SubmittersRCV000781309
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)	SNV Germline	Chr5:149978349	Pathogenic/Likely pathogenic	Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts		rs_1429562386	2 SubmittersRCV000811272 RCV003472411
NM_000112.4(SLC26A2):c.1234G>A (p.Val412Ile)	SNV Germline	Chr5:149980827	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201714602	2 SubmittersRCV000805701 RCV003166250
NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter)	SNV Unknown	Chr14:92003849	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		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		rs_745372938	2 SubmittersRCV000853519 RCV001597222
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	PA117562	rs_776935608	3 SubmittersRCV000853513 RCV003489941
NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter)	SNV Unknown	Chr14:92004498	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		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		rs_144829001	5 SubmittersRCV000888578 RCV001593124 RCV003948399
NM_004239.4(TRIP11):c.1146A>G (p.Ala382=)	SNV Germline	Chr14:92014255	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IA	Criteria Provided Conflicting Classifications		rs_377371591	2 SubmittersRCV000880813 RCV001120670
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		rs_142075650	4 SubmittersRCV000895196 RCV001120382 RCV003922846
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=)	SNV Germline	Chr14:92003848	Conflicting classifications of pathogenicity	Achondrogenesis, type IA	Criteria Provided Conflicting Classifications		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		rs_147932068	2 SubmittersRCV001115755
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg)	SNV Germline	Chr5:149980524	Likely pathogenic	Condition: not provided Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II	Criteria Provided Multiple Submitters No Conflicts		rs_377432261	3 SubmittersRCV000998468 RCV001378389
NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=)	SNV Germline	Chr14:91976116	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IA	Criteria Provided Conflicting Classifications		rs_1278413331	2 SubmittersRCV000995242 RCV002067608
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)	SNV Germline	Chr5:149980936	Pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia	Criteria Provided Single Submitter		rs_771098555	1 SubmittersRCV001036925
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)	SNV Germline	Chr14:91972829	Conflicting classifications of pathogenicity	Achondrogenesis, type IA	Criteria Provided Conflicting Classifications		rs_764596712	2 SubmittersRCV001115488
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=)	SNV Germline	Chr14:92003770	Conflicting classifications of pathogenicity	Achondrogenesis, type IA	Criteria Provided Conflicting Classifications		rs_746081059	2 SubmittersRCV001115581
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	Criteria Provided Conflicting Classifications		rs_201112407	4 SubmittersRCV001118737 RCV003283987 RCV003906222
NM_004239.4(TRIP11):c.9C>T (p.Ser3=)	SNV Germline	Chr14:92039677	Conflicting classifications of pathogenicity	Achondrogenesis, type IA	Criteria Provided Conflicting Classifications		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		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		rs_561503305	2 SubmittersRCV001117187
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe)	SNV Germline	Chr5:149978347	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Conflicting Classifications		rs_75097996	2 SubmittersRCV001151176 RCV001151175 RCV001151177 RCV001156642 RCV001156643 RCV002070828
NM_000112.4(SLC26A2):c.837G>T (p.Arg279=)	SNV Germline	Chr5:149980430	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications		rs_1755073343	2 SubmittersRCV001155090 RCV001156739 RCV001156738 RCV001156740 RCV001156737 RCV002070900
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=)	SNV Germline	Chr5:149981774	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Conflicting Classifications		rs_1755110758	2 SubmittersRCV001151724 RCV001151726 RCV001157185 RCV001151725 RCV001157184 RCV003769727
NM_000112.4(SLC26A2):c.*443T>C	SNV Germline	Chr5:149982256	Conflicting classifications of pathogenicity	Atelosteogenesis type II Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications		rs_115977282	1 SubmittersRCV001157386 RCV001157387 RCV001157388 RCV001157389 RCV001157385
NM_000112.4(SLC26A2):c.*2476T>C	SNV Germline	Chr5:149984289	Conflicting classifications of pathogenicity	Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Sulfate transporter-related osteochondrodysplasia	Criteria Provided Conflicting Classifications		rs_570682108	1 SubmittersRCV001152440 RCV001152441 RCV001152442 RCV001152443 RCV001153717
NM_000112.4(SLC26A2):c.*2873C>T	SNV Germline	Chr5:149984686	Conflicting classifications of pathogenicity	Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Atelosteogenesis type II	Criteria Provided Conflicting Classifications		rs_114919633	1 SubmittersRCV001153813 RCV001153814 RCV001153816 RCV001153815 RCV001156438
NM_000112.4(SLC26A2):c.*3507T>A	SNV Germline	Chr5:149985320	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications		rs_180966130	1 SubmittersRCV001154865 RCV001156538 RCV001156540 RCV001156539 RCV001156541
NM_000112.4(SLC26A2):c.*3918C>T	SNV Germline	Chr5:149985731	Conflicting classifications of pathogenicity	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications		rs_192457706	1 SubmittersRCV001152860 RCV001152861 RCV001154134 RCV001154135 RCV001154136
NM_000112.4(SLC26A2):c.*4419A>C	SNV Germline	Chr5:149986232	Conflicting classifications of pathogenicity	Atelosteogenesis type II Diastrophic dysplasia Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Conflicting Classifications		rs_140200789	1 SubmittersRCV001154244 RCV001154245 RCV001154246 RCV001154247 RCV001154248
NM_000112.4(SLC26A2):c.*4659G>T	SNV Germline	Chr5:149986472	Conflicting classifications of pathogenicity	Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications		rs_143908264	1 SubmittersRCV001151303 RCV001154350 RCV001154352 RCV001154353 RCV001154351
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)	SNV Germline	Chr5:149981248	Pathogenic/Likely pathogenic	Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts		rs_1755094376	3 SubmittersRCV001193470 RCV001390701 RCV003473731
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)	SNV Germline	Chr12:47975985	Conflicting classifications of pathogenicity	Achondrogenesis type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_779252535	2 SubmittersRCV001196430 RCV002560221
NM_001844.5(COL2A1):c.2355+1G>A	SNV Germline	Chr12:47982106	Pathogenic	Achondrogenesis type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1939124946	2 SubmittersRCV001199202 RCV001876285
NM_001844.5(COL2A1):c.1941+18C>T	SNV Germline	Chr12:47984069	Conflicting classifications of pathogenicity	Achondrogenesis type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_753819738	2 SubmittersRCV001198617 RCV002560251
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)	SNV Germline	Chr5:149981370	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB SLC26A2-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_905644652	3 SubmittersRCV001212481 RCV003473759 RCV004528418
NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter)	SNV Germline	Chr5:149977887	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Multiple Submitters No Conflicts		rs_1755020578	3 SubmittersRCV001253229 RCV003770313
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile)	SNV Germline	Chr12:47977605	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis type II	Criteria Provided Conflicting Classifications		rs_371635111	2 SubmittersRCV001300288 RCV001332047
NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter)	SNV Germline	Chr14:92005365	Pathogenic	Achondrogenesis, type IA	Criteria Provided Multiple Submitters No Conflicts		rs_999557873	2 SubmittersRCV001329831
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)	SNV Germline	Chr5:149980839	Pathogenic/Likely pathogenic	Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts		rs_2113698485	2 SubmittersRCV001383933 RCV003473949
NM_000112.4(SLC26A2):c.193A>G (p.Asn65Asp)	SNV Germline	Chr5:149977845	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_755049614	3 SubmittersRCV001418391 RCV002554073 RCV003992516
NM_000112.4(SLC26A2):c.875A>G (p.His292Arg)	SNV Germline	Chr5:149980468	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_761259326	2 SubmittersRCV001416607 RCV002554063
NM_000112.4(SLC26A2):c.893A>G (p.His298Arg)	SNV Germline	Chr5:149980486	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications		rs_115111282	2 SubmittersRCV001581122 RCV001413987
NM_004239.4(TRIP11):c.5457+81T>A	SNV Germline	Chr14:91975091	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		rs_2056447170	1 SubmittersRCV001420138
NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu)	SNV Germline	Chr5:149977848	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Condition: not provided	Criteria Provided Conflicting Classifications		rs_200981220	2 SubmittersRCV001434148 RCV001751765
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter)	SNV Germline	Chr14:92004894	Likely pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		rs_149562813	1 SubmittersRCV001449731
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His)	SNV Germline	Chr5:149977825	Conflicting classifications of pathogenicity	Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Condition: not provided	Criteria Provided Conflicting Classifications		rs_199893058	2 SubmittersRCV001459546 RCV003136080
NM_000112.4(SLC26A2):c.1295A>G (p.His432Arg)	SNV Germline	Chr5:149980888	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Condition: not provided	Criteria Provided Conflicting Classifications		rs_116443969	2 SubmittersRCV001470639 RCV001773753
NM_000112.4(SLC26A2):c.439G>T (p.Ala147Ser)	SNV Germline	Chr5:149978091	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_201012489	2 SubmittersRCV001498399 RCV003738082
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn)	SNV Germline	Chr14:92006387	Conflicting classifications of pathogenicity	Condition: not provided TRIP11-related disorder Achondrogenesis, type IA	Criteria Provided Conflicting Classifications		rs_138304419	4 SubmittersRCV001550030 RCV003948582 RCV002072031
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	SNV Germline	Chr12:47977644	Pathogenic	Condition: not provided Spondyloepimetaphyseal dysplasia, Strudwick type Type 2 collagenopathy Achondrogenesis type II	Criteria Provided Multiple Submitters No Conflicts		rs_2136522964	8 SubmittersRCV001596880 RCV001806243 RCV003985103 RCV003323909
NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val)	SNV Germline	Chr14:91975209	Likely pathogenic	Achondrogenesis, type IA Odontochondrodysplasia 1	Criteria Provided Single Submitter		rs_2056449254	2 SubmittersRCV001844308 RCV003992536
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter)	SNV Germline	Chr14:92015756	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		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		rs_372045593	2 SubmittersRCV001769898 RCV002077203
NM_004239.4(TRIP11):c.588+2T>C	SNV Germline	Chr14:92021554	Likely pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		rs_2057114964	1 SubmittersRCV001885171
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)	SNV Unknown	Chr12:47987303	Likely pathogenic	Achondrogenesis type II	No Assertion Criteria Provided		rs_2136577158	1 SubmittersRCV001808940
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp)	SNV Germline	Chr12:47982927	Likely pathogenic	Achondrogenesis type II	No Assertion Criteria Provided		rs_2136551606	1 SubmittersRCV001822977
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter)	SNV Germline	Chr14:92021618	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		rs_758589172	2 SubmittersRCV001822983
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg)	SNV Germline	Chr5:149981106	Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter		rs_2113698845	1 SubmittersRCV001881354
NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter)	SNV Germline	Chr14:92005194	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter		rs_1257379792	1 SubmittersRCV001933103
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter)	SNV Germline	Chr5:149981137	Likely pathogenic	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Single Submitter		rs_2113698870	1 SubmittersRCV001969619
NM_000112.4(SLC26A2):c.1277T>A (p.Ile426Asn)	SNV Germline	Chr5:149980870	Likely pathogenic	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Single Submitter		rs_2113698521	1 SubmittersRCV002050752
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr)	SNV Germline	Chr5:149981736	Likely pathogenic	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Single Submitter		rs_759438521	1 SubmittersRCV002014921
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr)	SNV Germline	Chr5:149981551	Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter		rs_1179580843	1 SubmittersRCV002006672
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		rs_369502177	2 SubmittersRCV001938894 RCV003883722
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter)	SNV Germline	Chr5:149981232	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts		rs_775143472	2 SubmittersRCV001949544 RCV003475248
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		rs_140780067	2 SubmittersRCV001903742 RCV002555398
NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly)	SNV Germline	Chr5:149980750	Likely pathogenic	Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II	Criteria Provided Single Submitter		rs_386833493	1 SubmittersRCV001977395
NM_000112.4(SLC26A2):c.1277T>C (p.Ile426Thr)	SNV Germline	Chr5:149980870	Likely pathogenic	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Single Submitter		rs_2113698521	1 SubmittersRCV001973698
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		rs_144317897	2 SubmittersRCV002129606 RCV002277022
NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys)	SNV Germline	Chr12:47978299	Likely pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter		rs_2136526244	1 SubmittersRCV002227895
NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter)	SNV Germline	Chr5:149977958	Pathogenic/Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Multiple Submitters No Conflicts		rs_768809642	2 SubmittersRCV002240136 RCV003774690
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)	SNV Germline	Chr12:47983726	Likely pathogenic	Achondrogenesis type II	No Assertion Criteria Provided		rs_1447463543	1 SubmittersRCV002260533
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser)	SNV Germline	Chr12:47978353	Pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter		rs_2136526515	1 SubmittersRCV002273087
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		rs_143126491	2 SubmittersRCV002278819 RCV003505203
NM_000112.4(SLC26A2):c.-26+1G>A	SNV Germline	Chr5:149960980	Likely pathogenic	Achondrogenesis, type IB	Criteria Provided Single Submitter			1 SubmittersRCV002466793
NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter)	SNV Germline	Chr14:91976181	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter			1 SubmittersRCV002471392
NM_004239.4(TRIP11):c.1186+1G>C	SNV Germline	Chr14:92014214	Likely pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter			1 SubmittersRCV002600741
NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)	SNV Germline	Chr5:149981021	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002820231 RCV003475427
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)	SNV Germline	Chr5:149981550	Likely pathogenic	Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter			1 SubmittersRCV002791447
NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)	SNV Germline	Chr5:149980502	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002796859 RCV003475424
NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)	SNV Germline	Chr5:149980936	Pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002861503 RCV004571340
NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter)	SNV Germline	Chr14:91975237	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter			1 SubmittersRCV002857141
NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter)	SNV Germline	Chr5:149977756	Pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV002872377
NM_004239.4(TRIP11):c.5575-1G>A	SNV Germline	Chr14:91972862	Likely pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter			1 SubmittersRCV002914585
NM_000112.4(SLC26A2):c.1767C>A (p.Tyr589Ter)	SNV Germline	Chr5:149981360	Pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter			1 SubmittersRCV002999840
NM_000112.4(SLC26A2):c.118A>T (p.Lys40Ter)	SNV Germline	Chr5:149977770	Pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter			1 SubmittersRCV003020212
NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)	SNV Germline	Chr5:149977866	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003026334 RCV004572579
NM_001844.5(COL2A1):c.2302-1G>T	SNV Germline	Chr12:47982161	Pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter			1 SubmittersRCV003157996
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)	SNV Germline	Chr12:47987176	Likely pathogenic	Achondrogenesis type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003236501 RCV003669369
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)	SNV Germline	Chr12:47981784	Likely pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter			1 SubmittersRCV003328140
NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter)	SNV Germline	Chr14:92015762	Pathogenic	TRIP11-related disorder Achondrogenesis, type IA	Criteria Provided Single Submitter			2 SubmittersRCV003410448 RCV004577574
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)	SNV Germline	Chr12:47982510	Likely pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter			1 SubmittersRCV003447778
NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu)	SNV Unknown	Chr5:149978136	Likely pathogenic	Achondrogenesis, type IB	Criteria Provided Single Submitter			1 SubmittersRCV003472852
NM_000112.4(SLC26A2):c.139C>T (p.Gln47Ter)	SNV Unknown	Chr5:149977791	Likely pathogenic	Achondrogenesis, type IB	Criteria Provided Single Submitter			1 SubmittersRCV003472853
NM_000112.4(SLC26A2):c.1800C>A (p.Tyr600Ter)	SNV Unknown	Chr5:149981393	Likely pathogenic	Achondrogenesis, type IB	Criteria Provided Single Submitter			1 SubmittersRCV003472856
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)	SNV Germline	Chr5:149977946	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472860 RCV003779114
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)	SNV Germline	Chr5:149980447	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472864 RCV003779115
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)	SNV Germline	Chr5:149980929	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472865 RCV003779116
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)	SNV Germline	Chr12:47978044	Pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter			1 SubmittersRCV003485995
NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)	SNV Germline	Chr14:91974682	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter			1 SubmittersRCV003505610
NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)	SNV Germline	Chr14:92004708	Pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter			1 SubmittersRCV003614602
NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)	SNV Germline	Chr5:149978078	Pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter			1 SubmittersRCV003803715
NM_000112.4(SLC26A2):c.373C>T (p.Gln125Ter)	SNV Germline	Chr5:149978025	Pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter			1 SubmittersRCV003794884
NM_000112.4(SLC26A2):c.1514G>A (p.Trp505Ter)	SNV Germline	Chr5:149981107	Pathogenic	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Single Submitter			1 SubmittersRCV003818025
NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)	SNV Germline	Chr5:149981389	Pathogenic/Likely pathogenic	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003812585 RCV004573335
NM_004239.4(TRIP11):c.5057-1G>A	SNV Germline	Chr14:91993913	Likely pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter			1 SubmittersRCV003830855
NM_004239.4(TRIP11):c.5343-1G>C	SNV Germline	Chr14:91975287	Likely pathogenic	Achondrogenesis, type IA	Criteria Provided Single Submitter			1 SubmittersRCV003866573
NM_001844.5(COL2A1):c.292+2T>A	SNV Germline	Chr12:47999917	Likely pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter			1 SubmittersRCV003988408
NM_001844.5(COL2A1):c.3158G>C (p.Gly1053Ala)	SNV Germline	Chr12:47977607	Likely pathogenic	Achondrogenesis type II	Criteria Provided Single Submitter			1 SubmittersRCV004555254
NM_000112.4(SLC26A2):c.293G>A (p.Trp98Ter)	SNV Unknown	Chr5:149977945	Likely pathogenic	Achondrogenesis, type IB	Criteria Provided Single Submitter			1 SubmittersRCV004573621
NM_000112.4(SLC26A2):c.2053C>T (p.Gln685Ter)	SNV Unknown	Chr5:149981646	Likely pathogenic	Achondrogenesis, type IB	Criteria Provided Single Submitter			1 SubmittersRCV004573622
NM_000112.4(SLC26A2):c.2089G>T (p.Gly697Ter)	SNV Unknown	Chr5:149981682	Likely pathogenic	Achondrogenesis, type IB	Criteria Provided Single Submitter			1 SubmittersRCV004573628

NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)

SNV
Germline

Chr5:149980428

Pathogenic/Likely pathogenic

Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Condition: not provided
Sulfate transporter-related osteochondrodysplasia
SLC26A2-related disorder
Inborn genetic diseases
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
3MC syndrome 2
Connective tissue disorder
not specified
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

CA252990

rs_104893915

28 SubmittersRCV000004305 RCV000004306 RCV000004307 RCV000266165 RCV000586600 RCV000275762 RCV000624686 RCV000641290 RCV001030753 RCV002276530 RCV000999764 RCV001030752

NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)

SNV
Germline

Chr5:149980357

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Osteochondrodysplasia

Criteria Provided
Conflicting Classifications

CA252992

rs_104893917

4 SubmittersRCV000004308 RCV000675076 RCV001851640 RCV003230347

NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)

SNV
Germline

Chr5:149981737

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Achondrogenesis, type IB

Criteria Provided
Conflicting Classifications

CA252994

rs_104893918

4 SubmittersRCV000004309 RCV000675095 RCV000797878 RCV003472968

NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)

SNV
Germline

Chr5:149978184

Pathogenic

Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
SLC26A2-related disorder
Condition: not provided
3MC syndrome 2
Sulfate transporter-related osteochondrodysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA259839

rs_104893919

18 SubmittersRCV000004310 RCV000023568 RCV000175526 RCV000411745 RCV000690242 RCV000779467 RCV000412934 RCV001030754 RCV000590163

NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)

SNV
Germline

Chr5:149980866

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Diastrophic dysplasia
Diastrophic dysplasia
Atelosteogenesis type II
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA259842

rs_104893920

5 SubmittersRCV000023569 RCV000055757 RCV001851641

NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)

SNV
Germline

Chr5:149981626

Likely pathogenic

Achondrogenesis, type IB
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Osteochondrodysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA259844

rs_104893916

4 SubmittersRCV000023570 RCV000055761 RCV000169017 RCV003234891

NM_000112.4(SLC26A2):c.-26+2T>C

SNV
Germline

Chr5:149960981

Pathogenic

Diastrophic dysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Sulfate transporter-related osteochondrodysplasia
Atelosteogenesis type II
Condition: not provided
Multiple epiphyseal dysplasia type 4
SLC26A2-related disorder
Achondrogenesis, type IB
3MC syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340160

rs_386833492

14 SubmittersRCV000004312 RCV000763135 RCV000780711 RCV000991163 RCV000724163 RCV000597319 RCV000779466 RCV001030744 RCV001030745

NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)

SNV
Germline

Chr5:149981550

Pathogenic/Likely pathogenic

Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Condition: not provided
Atelosteogenesis type II
Diastrophic dysplasia
Atelosteogenesis type II
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Sulfate transporter-related osteochondrodysplasia
3MC syndrome 2
SLC26A2-related disorder
Connective tissue disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252996

rs_104893924

20 SubmittersRCV000004313 RCV000055760 RCV000224702 RCV000409936 RCV000477884 RCV000411019 RCV000780712 RCV001030750 RCV001813733 RCV002276531

NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)

SNV
Germline

Chr5:149981128

Pathogenic

De la Chapelle dysplasia
Diastrophic dysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Single Submitter

CA116649

rs_121908078

2 SubmittersRCV000004314 RCV000004315 RCV002512749

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

3 SubmittersRCV000005843 RCV000757981

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

Criteria Provided
Conflicting Classifications

CA117563

rs_139539448

5 SubmittersRCV000005846 RCV000725982 RCV002276533

NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)

SNV
Germline

Chr12:47994041

Pathogenic

Spondyloepiphyseal dysplasia with metatarsal shortening
Condition: not provided
Stickler syndrome type 1
Acetabular dysplasia
Achondrogenesis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA127158

rs_121912876

8 SubmittersRCV000018912 RCV001385337 RCV000988828 RCV003228897 RCV003323361

NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser)

SNV
Germline

Chr12:47978389

Pathogenic

Achondrogenesis type II

No Assertion Criteria Provided

CA250680

rs_121912878

1 SubmittersRCV000018915

NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg)

SNV
Germline

Chr12:47980017

Pathogenic

Achondrogenesis type II

No Assertion Criteria Provided

CA250699

rs_121912879

1 SubmittersRCV000022480

NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)

SNV
Germline

Chr12:47985575

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided
Retinal dystrophy
Achondrogenesis type II
Stickler syndrome, type I, nonsyndromic ocular
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281746

rs_121912884

11 SubmittersRCV000018926 RCV000413561 RCV001074673 RCV001197973 RCV001807733 RCV004528123

NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)

SNV
Germline

Chr12:47985946

Pathogenic

Achondrogenesis type II

No Assertion Criteria Provided

CA250701

rs_121912888

1 SubmittersRCV000022481

NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val)

SNV
Unknown

Chr12:47985771

Pathogenic

Achondrogenesis type II

No Assertion Criteria Provided

CA250704

rs_121912899

1 SubmittersRCV000022483

NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val)

SNV
Germline

Chr5:149980750

Pathogenic/Likely pathogenic

Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

CA263247

rs_386833493

3 SubmittersRCV000049421 RCV001388086 RCV003474627

NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter)

SNV
Unknown

Chr5:149977699

Likely pathogenic

Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Single Submitter

CA263266

rs_386833505

2 SubmittersRCV000049433 RCV003474628

NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)

SNV
Germline

Chr5:149977707

Pathogenic/Likely pathogenic

Diastrophic dysplasia
Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

CA263272

rs_386833507

4 SubmittersRCV000049435 RCV000780714 RCV001853039 RCV004566897

NM_000112.4(SLC26A2):c.700-1G>C

SNV
Germline

Chr5:149980292

Pathogenic/Likely pathogenic

Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

CA263275

rs_200963884

5 SubmittersRCV000049436 RCV000169177 RCV001264500 RCV002496723 RCV003474629

NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys)

SNV
Germline

Chr5:149977824

Conflicting classifications of pathogenicity

Condition: not provided
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA216019

rs_369318758

5 SubmittersRCV000054570 RCV001069051 RCV001271550 RCV004018969

NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr)

SNV
Germline

Chr14:92003913

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

CA239559

rs_138661581

3 SubmittersRCV000174095 RCV000340266

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 SubmittersRCV000724732 RCV001085934 RCV002277346 RCV002516651

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

6 SubmittersRCV000175183 RCV000841294 RCV001089222 RCV003927601

NM_000112.4(SLC26A2):c.24A>G (p.Gln8=)

SNV
Germline

Chr5:149977676

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

CA241280

rs_372345029

2 SubmittersRCV000175525 RCV001493097

NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)

SNV
Germline

Chr5:149980580

Conflicting classifications of pathogenicity

not specified
Achondrogenesis, type IB
Sulfate transporter-related osteochondrodysplasia
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA243097

rs_116302615

9 SubmittersRCV000176984 RCV000269903 RCV000327465 RCV000333258 RCV000362143 RCV000384318 RCV000884358 RCV001704842 RCV002277384

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 SubmittersRCV000178208 RCV000684947 RCV002277400

NM_000112.4(SLC26A2):c.1194A>T (p.Val398=)

SNV
Germline

Chr5:149980787

Conflicting classifications of pathogenicity

not specified
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Atelosteogenesis type II
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586908

rs_886038240

5 SubmittersRCV000253229 RCV000886985 RCV001156843 RCV001156844 RCV001156845 RCV001156846 RCV001156847 RCV001552260

NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=)

SNV
Germline

Chr5:149981354

Conflicting classifications of pathogenicity

not specified
Sulfate transporter-related osteochondrodysplasia
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4

Criteria Provided
Conflicting Classifications

CA3505485

rs_745590895

3 SubmittersRCV000250262 RCV001157069 RCV001157070 RCV001157071 RCV001157072 RCV000933853 RCV001157073

NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=)

SNV
Germline

Chr5:149981639

Conflicting classifications of pathogenicity

not specified
Achondrogenesis, type IB
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Atelosteogenesis type II
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

CA3505542

rs_116657359

3 SubmittersRCV000242222 RCV001154667 RCV001154669 RCV001154670 RCV001154671 RCV000898816 RCV001154668

NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)

SNV
Germline

Chr5:149977881

Conflicting classifications of pathogenicity

not specified
Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Condition: not provided
Achondrogenesis, type IB
Sulfate transporter-related osteochondrodysplasia
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

CA3505223

rs_76784312

11 SubmittersRCV000398136 RCV000539759 RCV000987616 RCV001154133 RCV001812767 RCV001154972 RCV001154973 RCV001154974

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 SubmittersRCV000358083 RCV002059094

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 SubmittersRCV000388307 RCV001086094

NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile)

SNV
Germline

Chr5:149981105

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Sulfate transporter-related osteochondrodysplasia
Atelosteogenesis type II
Condition: not provided
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

CA3505452

rs_76668544

4 SubmittersRCV000259647 RCV000299908 RCV000354703 RCV000367416 RCV000361664 RCV000407213 RCV001084518

NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)

SNV
Germline

Chr14:92000046

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

CA7313405

rs_72705400

4 SubmittersRCV000299952 RCV001080898

NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)

SNV
Germline

Chr5:149981680

Conflicting classifications of pathogenicity

not specified
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Achondrogenesis, type IB
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505551

rs_34351171

5 SubmittersRCV000324346 RCV000956326 RCV001271508 RCV001707611

NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)

SNV
Germline

Chr14:91974664

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IA
TRIP11-related disorder
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA7313124

rs_141259390

6 SubmittersRCV000726133 RCV001088960 RCV003910010 RCV002278312

NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr)

SNV
Germline

Chr5:149980674

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Atelosteogenesis type II
Atelosteogenesis type II
Sulfate transporter-related osteochondrodysplasia
Achondrogenesis, type IB
Diastrophic dysplasia
Connective tissue disorder
Multiple epiphyseal dysplasia type 4

Criteria Provided
Conflicting Classifications

CA3505383

rs_139051143

6 SubmittersRCV000390686 RCV000705851 RCV001155190 RCV001155191 RCV001155192 RCV001156841 RCV002278323 RCV001156842

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
Inborn genetic diseases
Connective tissue disorder
TRIP11-related disorder

Criteria Provided
Conflicting Classifications

CA7313606

rs_41301481

9 SubmittersRCV000359112 RCV000755412 RCV001705435 RCV002518149 RCV002278324 RCV003910042

NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)

SNV
Germline

Chr12:47985772

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Achondrogenesis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA10606903

rs_886044555

6 SubmittersRCV000489443 RCV000622408 RCV003987496

NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=)

SNV
Germline

Chr5:149981738

Conflicting classifications of pathogenicity

Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Sulfate transporter-related osteochondrodysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

CA10619660

rs_886060225

2 SubmittersRCV000282853 RCV000286307 RCV000341256 RCV000347222 RCV000399332 RCV000932235

NM_000112.4(SLC26A2):c.*330G>T

SNV
Germline

Chr5:149982143

Conflicting classifications of pathogenicity

Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10619669

rs_191884433

2 SubmittersRCV000289233 RCV000325584 RCV000329202 RCV000383622 RCV000389504 RCV001812899

NM_000112.4(SLC26A2):c.*4799G>A

SNV
Germline

Chr5:149986612

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Sulfate transporter-related osteochondrodysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10619694

rs_72832119

2 SubmittersRCV000259349 RCV000281580 RCV000316963 RCV000373808 RCV000389033 RCV001785596

NM_000112.4(SLC26A2):c.*4930C>T

SNV
Germline

Chr5:149986743

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Achondrogenesis, type IB
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10619696

rs_79521091

2 SubmittersRCV000288906 RCV000311342 RCV000346456 RCV000368386 RCV000395422 RCV001786379

NM_000112.4(SLC26A2):c.993A>C (p.Ala331=)

SNV
Germline

Chr5:149980586

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Sulfate transporter-related osteochondrodysplasia
Achondrogenesis, type IB
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

CA3505363

rs_772104667

2 SubmittersRCV000282962 RCV000287065 RCV000321645 RCV000335056 RCV000379231 RCV002520336

NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=)

SNV
Germline

Chr5:149981354

Conflicting classifications of pathogenicity

Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

CA3505486

rs_745590895

2 SubmittersRCV000292288 RCV000298312 RCV000343265 RCV000337977 RCV000400969 RCV001481174

NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys)

SNV
Germline

Chr5:149981722

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Sulfate transporter-related osteochondrodysplasia
Achondrogenesis, type IB
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

CA3505558

rs_374692915

2 SubmittersRCV000281557 RCV000336484 RCV000330490 RCV000372485 RCV000376030 RCV001439481

NM_000112.4(SLC26A2):c.-183G>C

SNV
Germline

Chr5:149960822

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia

Criteria Provided
Conflicting Classifications

CA10623607

rs_540241474

1 SubmittersRCV000282159 RCV000295556 RCV000348865 RCV000374396 RCV000387555

NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)

SNV
Germline

Chr5:149980639

Conflicting classifications of pathogenicity

Sulfate transporter-related osteochondrodysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505378

rs_114212275

8 SubmittersRCV000281048 RCV000312752 RCV000338459 RCV000399511 RCV000390859 RCV000765823 RCV000591740

NM_000112.4(SLC26A2):c.*205G>A

SNV
Germline

Chr5:149982018

Conflicting classifications of pathogenicity

Sulfate transporter-related osteochondrodysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Conflicting Classifications

CA10623612

rs_115383424

1 SubmittersRCV000284300 RCV000316326 RCV000320599 RCV000384454 RCV000378809

NM_000112.4(SLC26A2):c.*1970G>T

SNV
Germline

Chr5:149983783

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Conflicting Classifications

CA10623616

rs_147208348

1 SubmittersRCV000262117 RCV000279719 RCV000319588 RCV000341640 RCV000371915

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 SubmittersRCV000312673 RCV003165849 RCV003930349

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 SubmittersRCV000731242 RCV001079434 RCV003910187

NM_004239.4(TRIP11):c.2829T>C (p.Phe943=)

SNV
Germline

Chr14:92005147

Conflicting classifications of pathogenicity

Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

CA7313718

rs_758437737

2 SubmittersRCV000325942

NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala)

SNV
Germline

Chr14:92005619

Conflicting classifications of pathogenicity

Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

CA7313789

rs_201394520

2 SubmittersRCV000380572

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 SubmittersRCV000354648 RCV003957634

NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys)

SNV
Germline

Chr14:92003817

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

CA7313512

rs_201607866

4 SubmittersRCV000508397 RCV003278760 RCV000893258

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 SubmittersRCV000329288 RCV001564159

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 SubmittersRCV000406125 RCV000593586 RCV002278417

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 SubmittersRCV000345286 RCV000616164

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 SubmittersRCV000296490 RCV000591240

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.1186+14G>A

SNV
Germline

Chr14:92014201

Conflicting classifications of pathogenicity

Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

CA7314014

rs_371492052

2 SubmittersRCV000312943

NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)

SNV
Unknown

Chr5:149977837

Likely pathogenic

Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16040984

rs_1057517523

2 SubmittersRCV000409914 RCV000410073 RCV000409043 RCV000411463

NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter)

SNV
Unknown

Chr5:149978193

Likely pathogenic

Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Single Submitter

CA16040988

rs_1057517483

1 SubmittersRCV000409182 RCV000410110 RCV000411159 RCV000412066

NM_000112.4(SLC26A2):c.699+2T>C

SNV
Unknown

Chr5:149978353

Pathogenic

Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Single Submitter

CA16040989

rs_1057517461

1 SubmittersRCV000409387 RCV000410512 RCV000411790 RCV000411619

NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter)

SNV
Germline

Chr5:149980339

Pathogenic/Likely pathogenic

Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Atelosteogenesis type II
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16040991

rs_1057517514

3 SubmittersRCV000409471 RCV000410567 RCV000409703 RCV000411690 RCV003766136

NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)

SNV
Germline

Chr5:149980653

Pathogenic/Likely pathogenic

Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

CA16040994

rs_1057517532

2 SubmittersRCV000410579 RCV000410391 RCV000411229 RCV000409259 RCV001218289

NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)

SNV
Unknown

Chr12:47976531

Likely pathogenic

Narrow chest
Disproportionate short-limb short stature
Achondrogenesis type II

Criteria Provided
Single Submitter

CA16043470

rs_1057518911

1 SubmittersRCV000415337 RCV001196300

NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)

SNV
Germline

Chr12:47978098

Pathogenic

Short ribs
Absent vertebral body mineralization
Achondrogenesis type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16043471

rs_765795867

2 SubmittersRCV000415214 RCV001196261 RCV002524665

NM_004239.4(TRIP11):c.5057-9T>G

SNV
Germline

Chr14:91993921

Conflicting classifications of pathogenicity

not specified
Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

CA7313291

rs_372161255

3 SubmittersRCV000438297 RCV000963313

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 SubmittersRCV000953690 RCV001704517

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 SubmittersRCV000488927 RCV002063835 RCV004023259

NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)

SNV
Germline

Chr12:47977626

Likely pathogenic

not specified
Achondrogenesis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA384540546

rs_1555165245

2 SubmittersRCV000507539 RCV001198649

NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)

SNV
Germline

Chr12:47974271

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis type II

Criteria Provided
Conflicting Classifications

CA6534529

rs_141951587

3 SubmittersRCV000520302 RCV001805138

NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)

SNV
Germline

Chr14:91972807

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IA
Connective tissue disorder
TRIP11-related disorder

Criteria Provided
Conflicting Classifications

CA7313094

rs_148261539

8 SubmittersRCV000729388 RCV001087540 RCV002279309 RCV003915465

NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)

SNV
Germline

Chr12:47983699

Pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

CA384548391

rs_1555166729

1 SubmittersRCV000578377

NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)

SNV
Germline

Chr5:149981300

Pathogenic/Likely pathogenic

Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

CA361708540

rs_766836061

3 SubmittersRCV000588352 RCV000809074 RCV003471936

NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)

SNV
Germline

Chr12:47977616

Likely pathogenic

Condition: not provided
Achondrogenesis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA384540524

rs_1555165242

3 SubmittersRCV000593974 RCV001822860

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 SubmittersRCV000593601 RCV003614051

NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser)

SNV
Germline

Chr5:149980360

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB
Achondrogenesis, type IB

Criteria Provided
Conflicting Classifications

rs_1419613966

3 SubmittersRCV000667661 RCV002530719 RCV003472088

NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter)

SNV
Germline

Chr5:149981690

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Diastrophic dysplasia
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

rs_761932822

2 SubmittersRCV000670801 RCV003767990

NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)

SNV
Germline

Chr5:149981357

Pathogenic/Likely pathogenic

Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554095364

3 SubmittersRCV000665350 RCV001855439 RCV003472070

NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)

SNV
Germline

Chr5:149980369

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
Condition: not provided
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Diastrophic dysplasia
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

rs_769319202

3 SubmittersRCV000671782 RCV002531295 RCV002532114

NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)

SNV
Germline

Chr5:149981580

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
SLC26A2-related disorder
Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Achondrogenesis, type IB

Criteria Provided
Conflicting Classifications

rs_1554095397

6 SubmittersRCV000665405 RCV000779468 RCV001175534 RCV001388087 RCV001835070

NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro)

SNV
Germline

Chr5:149981587

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Diastrophic dysplasia
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

rs_141798540

2 SubmittersRCV000671750 RCV002531294

NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)

SNV
Germline

Chr14:92011020

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

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

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

Criteria Provided
Conflicting Classifications

rs_35991093

3 SubmittersRCV000733957 RCV001078613

NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr14:92021558

Conflicting classifications of pathogenicity

Achondrogenesis, type IA
Odontochondrodysplasia 1

Criteria Provided
Conflicting Classifications

rs_149079426

3 SubmittersRCV000778421 RCV000853509

NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)

SNV
Germline

Chr12:47986343

Likely pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

rs_868417981

1 SubmittersRCV000781310

NM_001844.5(COL2A1):c.1680+2T>G

SNV
Germline

Chr12:47985726

Likely pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

rs_1565681966

1 SubmittersRCV000781309

NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)

SNV
Germline

Chr5:149978349

Pathogenic/Likely pathogenic

Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

rs_1429562386

2 SubmittersRCV000811272 RCV003472411

NM_000112.4(SLC26A2):c.1234G>A (p.Val412Ile)

SNV
Germline

Chr5:149980827

Conflicting classifications of pathogenicity

Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201714602

2 SubmittersRCV000805701 RCV003166250

NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter)

SNV
Unknown

Chr14:92003849

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

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

rs_745372938

2 SubmittersRCV000853519 RCV001597222

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

PA117562

rs_776935608

3 SubmittersRCV000853513 RCV003489941

NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter)

SNV
Unknown

Chr14:92004498

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

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

rs_144829001

5 SubmittersRCV000888578 RCV001593124 RCV003948399

NM_004239.4(TRIP11):c.1146A>G (p.Ala382=)

SNV
Germline

Chr14:92014255

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

rs_377371591

2 SubmittersRCV000880813 RCV001120670

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

rs_142075650

4 SubmittersRCV000895196 RCV001120382 RCV003922846

NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=)

SNV
Germline

Chr14:92003848

Conflicting classifications of pathogenicity

Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

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

rs_147932068

2 SubmittersRCV001115755

NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg)

SNV
Germline

Chr5:149980524

Likely pathogenic

Condition: not provided
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II

Criteria Provided
Multiple Submitters
No Conflicts

rs_377432261

3 SubmittersRCV000998468 RCV001378389

NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=)

SNV
Germline

Chr14:91976116

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

rs_1278413331

2 SubmittersRCV000995242 RCV002067608

NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)

SNV
Germline

Chr5:149980936

Pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia

Criteria Provided
Single Submitter

rs_771098555

1 SubmittersRCV001036925

NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)

SNV
Germline

Chr14:91972829

Conflicting classifications of pathogenicity

Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

rs_764596712

2 SubmittersRCV001115488

NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=)

SNV
Germline

Chr14:92003770

Conflicting classifications of pathogenicity

Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

rs_746081059

2 SubmittersRCV001115581

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

Criteria Provided
Conflicting Classifications

rs_201112407

4 SubmittersRCV001118737 RCV003283987 RCV003906222

NM_004239.4(TRIP11):c.9C>T (p.Ser3=)

SNV
Germline

Chr14:92039677

Conflicting classifications of pathogenicity

Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

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

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

rs_561503305

2 SubmittersRCV001117187

NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe)

SNV
Germline

Chr5:149978347

Conflicting classifications of pathogenicity

Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Atelosteogenesis type II
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Conflicting Classifications

rs_75097996

2 SubmittersRCV001151176 RCV001151175 RCV001151177 RCV001156642 RCV001156643 RCV002070828

NM_000112.4(SLC26A2):c.837G>T (p.Arg279=)

SNV
Germline

Chr5:149980430

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Sulfate transporter-related osteochondrodysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Conflicting Classifications

rs_1755073343

2 SubmittersRCV001155090 RCV001156739 RCV001156738 RCV001156740 RCV001156737 RCV002070900

NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=)

SNV
Germline

Chr5:149981774

Conflicting classifications of pathogenicity

Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Atelosteogenesis type II
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Conflicting Classifications

rs_1755110758

2 SubmittersRCV001151724 RCV001151726 RCV001157185 RCV001151725 RCV001157184 RCV003769727

NM_000112.4(SLC26A2):c.*443T>C

SNV
Germline

Chr5:149982256

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Achondrogenesis, type IB
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Conflicting Classifications

rs_115977282

1 SubmittersRCV001157386 RCV001157387 RCV001157388 RCV001157389 RCV001157385

NM_000112.4(SLC26A2):c.*2476T>C

SNV
Germline

Chr5:149984289

Conflicting classifications of pathogenicity

Diastrophic dysplasia
Atelosteogenesis type II
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Sulfate transporter-related osteochondrodysplasia

Criteria Provided
Conflicting Classifications

rs_570682108

1 SubmittersRCV001152440 RCV001152441 RCV001152442 RCV001152443 RCV001153717

NM_000112.4(SLC26A2):c.*2873C>T

SNV
Germline

Chr5:149984686

Conflicting classifications of pathogenicity

Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Sulfate transporter-related osteochondrodysplasia
Achondrogenesis, type IB
Atelosteogenesis type II

Criteria Provided
Conflicting Classifications

rs_114919633

1 SubmittersRCV001153813 RCV001153814 RCV001153816 RCV001153815 RCV001156438

NM_000112.4(SLC26A2):c.*3507T>A

SNV
Germline

Chr5:149985320

Conflicting classifications of pathogenicity

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Conflicting Classifications

rs_180966130

1 SubmittersRCV001154865 RCV001156538 RCV001156540 RCV001156539 RCV001156541

NM_000112.4(SLC26A2):c.*3918C>T

SNV
Germline

Chr5:149985731

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Sulfate transporter-related osteochondrodysplasia
Achondrogenesis, type IB
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Conflicting Classifications

rs_192457706

1 SubmittersRCV001152860 RCV001152861 RCV001154134 RCV001154135 RCV001154136

NM_000112.4(SLC26A2):c.*4419A>C

SNV
Germline

Chr5:149986232

Conflicting classifications of pathogenicity

Atelosteogenesis type II
Diastrophic dysplasia
Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Conflicting Classifications

rs_140200789

1 SubmittersRCV001154244 RCV001154245 RCV001154246 RCV001154247 RCV001154248

NM_000112.4(SLC26A2):c.*4659G>T

SNV
Germline

Chr5:149986472

Conflicting classifications of pathogenicity

Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Conflicting Classifications

rs_143908264

1 SubmittersRCV001151303 RCV001154350 RCV001154352 RCV001154353 RCV001154351

NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)

SNV
Germline

Chr5:149981248

Pathogenic/Likely pathogenic

Sulfate transporter-related osteochondrodysplasia
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

rs_1755094376

3 SubmittersRCV001193470 RCV001390701 RCV003473731

NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)

SNV
Germline

Chr12:47975985

Conflicting classifications of pathogenicity

Achondrogenesis type II
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_779252535

2 SubmittersRCV001196430 RCV002560221

NM_001844.5(COL2A1):c.2355+1G>A

SNV
Germline

Chr12:47982106

Pathogenic

Achondrogenesis type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1939124946

2 SubmittersRCV001199202 RCV001876285

NM_001844.5(COL2A1):c.1941+18C>T

SNV
Germline

Chr12:47984069

Conflicting classifications of pathogenicity

Achondrogenesis type II
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753819738

2 SubmittersRCV001198617 RCV002560251

NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)

SNV
Germline

Chr5:149981370

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Diastrophic dysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
SLC26A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_905644652

3 SubmittersRCV001212481 RCV003473759 RCV004528418

NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter)

SNV
Germline

Chr5:149977887

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1755020578

3 SubmittersRCV001253229 RCV003770313

NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile)

SNV
Germline

Chr12:47977605

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis type II

Criteria Provided
Conflicting Classifications

rs_371635111

2 SubmittersRCV001300288 RCV001332047

NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter)

SNV
Germline

Chr14:92005365

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_999557873

2 SubmittersRCV001329831

NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)

SNV
Germline

Chr5:149980839

Pathogenic/Likely pathogenic

Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

rs_2113698485

2 SubmittersRCV001383933 RCV003473949

NM_000112.4(SLC26A2):c.193A>G (p.Asn65Asp)

SNV
Germline

Chr5:149977845

Conflicting classifications of pathogenicity

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755049614

3 SubmittersRCV001418391 RCV002554073 RCV003992516

NM_000112.4(SLC26A2):c.875A>G (p.His292Arg)

SNV
Germline

Chr5:149980468

Conflicting classifications of pathogenicity

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_761259326

2 SubmittersRCV001416607 RCV002554063

NM_000112.4(SLC26A2):c.893A>G (p.His298Arg)

SNV
Germline

Chr5:149980486

Conflicting classifications of pathogenicity

Condition: not provided
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Conflicting Classifications

rs_115111282

2 SubmittersRCV001581122 RCV001413987

NM_004239.4(TRIP11):c.5457+81T>A

SNV
Germline

Chr14:91975091

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

rs_2056447170

1 SubmittersRCV001420138

NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu)

SNV
Germline

Chr5:149977848

Conflicting classifications of pathogenicity

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200981220

2 SubmittersRCV001434148 RCV001751765

NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter)

SNV
Germline

Chr14:92004894

Likely pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

rs_149562813

1 SubmittersRCV001449731

NM_000112.4(SLC26A2):c.173G>A (p.Arg58His)

SNV
Germline

Chr5:149977825

Conflicting classifications of pathogenicity

Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199893058

2 SubmittersRCV001459546 RCV003136080

NM_000112.4(SLC26A2):c.1295A>G (p.His432Arg)

SNV
Germline

Chr5:149980888

Conflicting classifications of pathogenicity

Achondrogenesis, type IB
Diastrophic dysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_116443969

2 SubmittersRCV001470639 RCV001773753

NM_000112.4(SLC26A2):c.439G>T (p.Ala147Ser)

SNV
Germline

Chr5:149978091

Conflicting classifications of pathogenicity

Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201012489

2 SubmittersRCV001498399 RCV003738082

NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn)

SNV
Germline

Chr14:92006387

Conflicting classifications of pathogenicity

Condition: not provided
TRIP11-related disorder
Achondrogenesis, type IA

Criteria Provided
Conflicting Classifications

rs_138304419

4 SubmittersRCV001550030 RCV003948582 RCV002072031

NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)

SNV
Germline

Chr12:47977644

Pathogenic

Condition: not provided
Spondyloepimetaphyseal dysplasia, Strudwick type
Type 2 collagenopathy
Achondrogenesis type II

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136522964

8 SubmittersRCV001596880 RCV001806243 RCV003985103 RCV003323909

NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val)

SNV
Germline

Chr14:91975209

Likely pathogenic

Achondrogenesis, type IA
Odontochondrodysplasia 1

Criteria Provided
Single Submitter

rs_2056449254

2 SubmittersRCV001844308 RCV003992536

NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter)

SNV
Germline

Chr14:92015756

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

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

rs_372045593

2 SubmittersRCV001769898 RCV002077203

NM_004239.4(TRIP11):c.588+2T>C

SNV
Germline

Chr14:92021554

Likely pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

rs_2057114964

1 SubmittersRCV001885171

NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)

SNV
Unknown

Chr12:47987303

Likely pathogenic

Achondrogenesis type II

No Assertion Criteria Provided

rs_2136577158

1 SubmittersRCV001808940

NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp)

SNV
Germline

Chr12:47982927

Likely pathogenic

Achondrogenesis type II

No Assertion Criteria Provided

rs_2136551606

1 SubmittersRCV001822977

NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter)

SNV
Germline

Chr14:92021618

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

rs_758589172

2 SubmittersRCV001822983

NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg)

SNV
Germline

Chr5:149981106

Likely pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Single Submitter

rs_2113698845

1 SubmittersRCV001881354

NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter)

SNV
Germline

Chr14:92005194

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

rs_1257379792

1 SubmittersRCV001933103

NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter)

SNV
Germline

Chr5:149981137

Likely pathogenic

Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Single Submitter

rs_2113698870

1 SubmittersRCV001969619

NM_000112.4(SLC26A2):c.1277T>A (p.Ile426Asn)

SNV
Germline

Chr5:149980870

Likely pathogenic

Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Diastrophic dysplasia
Atelosteogenesis type II

Criteria Provided
Single Submitter

rs_2113698521

1 SubmittersRCV002050752

NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr)

SNV
Germline

Chr5:149981736

Likely pathogenic

Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Single Submitter

rs_759438521

1 SubmittersRCV002014921

NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr)

SNV
Germline

Chr5:149981551

Likely pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Single Submitter

rs_1179580843

1 SubmittersRCV002006672

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

rs_369502177

2 SubmittersRCV001938894 RCV003883722

NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter)

SNV
Germline

Chr5:149981232

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

rs_775143472

2 SubmittersRCV001949544 RCV003475248

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

rs_140780067

2 SubmittersRCV001903742 RCV002555398

NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly)

SNV
Germline

Chr5:149980750

Likely pathogenic

Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II

Criteria Provided
Single Submitter

rs_386833493

1 SubmittersRCV001977395

NM_000112.4(SLC26A2):c.1277T>C (p.Ile426Thr)

SNV
Germline

Chr5:149980870

Likely pathogenic

Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Single Submitter

rs_2113698521

1 SubmittersRCV001973698

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

rs_144317897

2 SubmittersRCV002129606 RCV002277022

NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys)

SNV
Germline

Chr12:47978299

Likely pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

rs_2136526244

1 SubmittersRCV002227895

NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter)

SNV
Germline

Chr5:149977958

Pathogenic/Likely pathogenic

Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_768809642

2 SubmittersRCV002240136 RCV003774690

NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)

SNV
Germline

Chr12:47983726

Likely pathogenic

Achondrogenesis type II

No Assertion Criteria Provided

rs_1447463543

1 SubmittersRCV002260533

NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser)

SNV
Germline

Chr12:47978353

Pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

rs_2136526515

1 SubmittersRCV002273087

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

rs_143126491

2 SubmittersRCV002278819 RCV003505203

NM_000112.4(SLC26A2):c.-26+1G>A

SNV
Germline

Chr5:149960980

Likely pathogenic

Achondrogenesis, type IB

Criteria Provided
Single Submitter

1 SubmittersRCV002466793

NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter)

SNV
Germline

Chr14:91976181

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002471392

NM_004239.4(TRIP11):c.1186+1G>C

SNV
Germline

Chr14:92014214

Likely pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002600741

NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)

SNV
Germline

Chr5:149981021

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002820231 RCV003475427

NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)

SNV
Germline

Chr5:149981550

Likely pathogenic

Atelosteogenesis type II
Achondrogenesis, type IB
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Single Submitter

1 SubmittersRCV002791447

NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)

SNV
Germline

Chr5:149980502

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002796859 RCV003475424

NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)

SNV
Germline

Chr5:149980936

Pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002861503 RCV004571340

NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter)

SNV
Germline

Chr14:91975237

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002857141

NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter)

SNV
Germline

Chr5:149977756

Pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV002872377

NM_004239.4(TRIP11):c.5575-1G>A

SNV
Germline

Chr14:91972862

Likely pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002914585

NM_000112.4(SLC26A2):c.1767C>A (p.Tyr589Ter)

SNV
Germline

Chr5:149981360

Pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Single Submitter

1 SubmittersRCV002999840

NM_000112.4(SLC26A2):c.118A>T (p.Lys40Ter)

SNV
Germline

Chr5:149977770

Pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Single Submitter

1 SubmittersRCV003020212

NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)

SNV
Germline

Chr5:149977866

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Diastrophic dysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003026334 RCV004572579

NM_001844.5(COL2A1):c.2302-1G>T

SNV
Germline

Chr12:47982161

Pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

1 SubmittersRCV003157996

NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)

SNV
Germline

Chr12:47987176

Likely pathogenic

Achondrogenesis type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003236501 RCV003669369

NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)

SNV
Germline

Chr12:47981784

Likely pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

1 SubmittersRCV003328140

NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter)

SNV
Germline

Chr14:92015762

Pathogenic

TRIP11-related disorder
Achondrogenesis, type IA

Criteria Provided
Single Submitter

2 SubmittersRCV003410448 RCV004577574

NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)

SNV
Germline

Chr12:47982510

Likely pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

1 SubmittersRCV003447778

NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu)

SNV
Unknown

Chr5:149978136

Likely pathogenic

Achondrogenesis, type IB

Criteria Provided
Single Submitter

1 SubmittersRCV003472852

NM_000112.4(SLC26A2):c.139C>T (p.Gln47Ter)

SNV
Unknown

Chr5:149977791

Likely pathogenic

Achondrogenesis, type IB

Criteria Provided
Single Submitter

1 SubmittersRCV003472853

NM_000112.4(SLC26A2):c.1800C>A (p.Tyr600Ter)

SNV
Unknown

Chr5:149981393

Likely pathogenic

Achondrogenesis, type IB

Criteria Provided
Single Submitter

1 SubmittersRCV003472856

NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)

SNV
Germline

Chr5:149977946

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472860 RCV003779114

NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)

SNV
Germline

Chr5:149980447

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472864 RCV003779115

NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)

SNV
Germline

Chr5:149980929

Pathogenic/Likely pathogenic

Achondrogenesis, type IB
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472865 RCV003779116

NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)

SNV
Germline

Chr12:47978044

Pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

1 SubmittersRCV003485995

NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)

SNV
Germline

Chr14:91974682

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003505610

NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)

SNV
Germline

Chr14:92004708

Pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003614602

NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)

SNV
Germline

Chr5:149978078

Pathogenic

Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Criteria Provided
Single Submitter

1 SubmittersRCV003803715

NM_000112.4(SLC26A2):c.373C>T (p.Gln125Ter)

SNV
Germline

Chr5:149978025

Pathogenic

Achondrogenesis, type IB
Diastrophic dysplasia
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4

Criteria Provided
Single Submitter

1 SubmittersRCV003794884

NM_000112.4(SLC26A2):c.1514G>A (p.Trp505Ter)

SNV
Germline

Chr5:149981107

Pathogenic

Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Atelosteogenesis type II

Criteria Provided
Single Submitter

1 SubmittersRCV003818025

NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)

SNV
Germline

Chr5:149981389

Pathogenic/Likely pathogenic

Atelosteogenesis type II
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003812585 RCV004573335

NM_004239.4(TRIP11):c.5057-1G>A

SNV
Germline

Chr14:91993913

Likely pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003830855

NM_004239.4(TRIP11):c.5343-1G>C

SNV
Germline

Chr14:91975287

Likely pathogenic

Achondrogenesis, type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003866573

NM_001844.5(COL2A1):c.292+2T>A

SNV
Germline

Chr12:47999917

Likely pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

1 SubmittersRCV003988408

NM_001844.5(COL2A1):c.3158G>C (p.Gly1053Ala)

SNV
Germline

Chr12:47977607

Likely pathogenic

Achondrogenesis type II

Criteria Provided
Single Submitter

1 SubmittersRCV004555254

NM_000112.4(SLC26A2):c.293G>A (p.Trp98Ter)

SNV
Unknown

Chr5:149977945

Likely pathogenic

Achondrogenesis, type IB

Criteria Provided
Single Submitter

1 SubmittersRCV004573621

NM_000112.4(SLC26A2):c.2053C>T (p.Gln685Ter)

SNV
Unknown

Chr5:149981646

Likely pathogenic

Achondrogenesis, type IB

Criteria Provided
Single Submitter

1 SubmittersRCV004573622

NM_000112.4(SLC26A2):c.2089G>T (p.Gly697Ter)

SNV
Unknown

Chr5:149981682

Likely pathogenic

Achondrogenesis, type IB

Criteria Provided
Single Submitter

1 SubmittersRCV004573628