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 SLC26A2-related disorder Sulfate transporter-related osteochondrodysplasia Inborn genetic diseases Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB 3MC syndrome 2 Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA252990	rs_104893915	32 SubmittersRCV000004305 RCV000004306 RCV000004307 RCV000266165 RCV000275762 RCV000586600 RCV000624686 RCV000641290 RCV001030752 RCV001030753 RCV002276530
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 Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB 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	Pathogenic/Likely pathogenic	Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA252994	rs_104893918	5 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 Condition: not provided Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II SLC26A2-related disorder 3MC syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA259839	rs_104893919	21 SubmittersRCV000004310 RCV000023568 RCV000175526 RCV000411745 RCV000412934 RCV000590163 RCV000690242 RCV000779467 RCV001030754
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	SNV Germline	Chr5:149980866	Pathogenic/Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts	CA259842	rs_104893920	6 SubmittersRCV000055757 RCV000023569 RCV001851641
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)	SNV Germline	Chr5:149981626	Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Osteochondrodysplasia	Criteria Provided Single Submitter	CA259844	rs_104893916	4 SubmittersRCV000055761 RCV000023570 RCV000169017 RCV003234891
NM_000112.4(SLC26A2):c.1361A>C (p.Gln454Pro)	SNV Germline	Chr5:149980954	Pathogenic	Diastrophic dysplasia, broad bone-platyspondylic variant Diastrophic dysplasia	No Assertion Criteria Provided	CA116646	rs_104893921	2 SubmittersRCV000004311 RCV000055758
NM_000112.4(SLC26A2):c.-26+2T>C	SNV Germline	Chr5:149960981	Pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Condition: not provided Sulfate transporter-related osteochondrodysplasia SLC26A2-related disorder 3MC syndrome 2 Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA340160	rs_386833492	16 SubmittersRCV000004312 RCV000763135 RCV000597319 RCV000724163 RCV000780711 RCV000779466 RCV001030745 RCV000991163 RCV001030744
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	SNV Germline	Chr5:149981550	Pathogenic/Likely pathogenic	Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Condition: not provided Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Sulfate transporter-related osteochondrodysplasia 3MC syndrome 2 SLC26A2-related disorder Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA252996	rs_104893924	23 SubmittersRCV000004313 RCV000055760 RCV000411019 RCV000224702 RCV000409936 RCV000477884 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 Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Osteochondrodysplasia	Criteria Provided Multiple Submitters No Conflicts	CA116649	rs_121908078	3 SubmittersRCV000004314 RCV000004315 RCV002512749 RCV004700186
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val)	SNV Germline	Chr5:149980750	Pathogenic/Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA263247	rs_386833493	4 SubmittersRCV000049421 RCV001388086 RCV003474627
NM_000112.4(SLC26A2):c.1451G>A (p.Gly484Asp)	SNV Unknown	Chr5:149981044	Likely pathogenic	Diastrophic dysplasia	No Assertion Criteria Provided	CA263252	rs_386833496	1 SubmittersRCV000049424
NM_000112.4(SLC26A2):c.331G>T (p.Asp111Tyr)	SNV Unknown	Chr5:149977983	Likely pathogenic	Diastrophic dysplasia	No Assertion Criteria Provided	CA263260	rs_386833503	1 SubmittersRCV000049431
NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter)	SNV Germline	Chr5:149977699	Likely pathogenic	Diastrophic dysplasia Achondrogenesis, type IB Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Multiple Submitters No Conflicts	CA263266	rs_386833505	3 SubmittersRCV000049433 RCV003474628 RCV005042152
NM_000112.4(SLC26A2):c.496G>A (p.Gly166Arg)	SNV Unknown	Chr5:149978148	Likely pathogenic	Diastrophic dysplasia	No Assertion Criteria Provided	CA263269	rs_386833506	1 SubmittersRCV000049434
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)	SNV Germline	Chr5:149977707	Pathogenic/Likely pathogenic	Diastrophic dysplasia Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA263272	rs_386833507	5 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 Osteochondrodysplasia Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA263275	rs_200963884	6 SubmittersRCV000049436 RCV000169177 RCV005055551 RCV002496723 RCV003474629
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys)	SNV Germline	Chr5:149977824	Conflicting classifications of pathogenicity	Condition: not provided Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA216019	rs_369318758	5 SubmittersRCV000054570 RCV001069051 RCV001271550 RCV004018969
NM_000112.4(SLC26A2):c.24A>G (p.Gln8=)	SNV Germline	Chr5:149977676	Conflicting classifications of pathogenicity	Condition: not provided Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	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	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia not specified Connective tissue disorder Condition: not provided Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Conflicting Classifications	CA243097	rs_116302615	9 SubmittersRCV000384318 RCV000884358 RCV000176984 RCV002277384 RCV001704842 RCV000269903 RCV000327465 RCV000333258 RCV000362143
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=)	SNV Germline	Chr5:149980787	Conflicting classifications of pathogenicity	not specified Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia 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 Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA3505485	rs_745590895	3 SubmittersRCV000250262 RCV000933853 RCV001157069 RCV001157070 RCV001157071 RCV001157072 RCV001157073
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=)	SNV Germline	Chr5:149981639	Conflicting classifications of pathogenicity	not specified Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Conflicting Classifications	CA3505542	rs_116657359	3 SubmittersRCV000242222 RCV001154670 RCV001154671 RCV001154667 RCV001154669 RCV000898816 RCV001154668
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)	SNV Germline	Chr5:149977881	Conflicting classifications of pathogenicity	not specified Achondrogenesis, type IB 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	Criteria Provided Conflicting Classifications	CA3505223	rs_76784312	11 SubmittersRCV000398136 RCV000539759 RCV001154133 RCV001154972 RCV001154973 RCV001154974 RCV001812767 RCV000987616
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile)	SNV Germline	Chr5:149981105	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Condition: not provided Sulfate transporter-related osteochondrodysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Conflicting Classifications	CA3505452	rs_76668544	5 SubmittersRCV000259647 RCV000299908 RCV000361664 RCV000354703 RCV000367416 RCV000407213 RCV001084518
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)	SNV Germline	Chr5:149981680	Conflicting classifications of pathogenicity	not specified Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Achondrogenesis, type IB Condition: not provided	Criteria Provided Conflicting Classifications	CA3505551	rs_34351171	5 SubmittersRCV000324346 RCV000956326 RCV001271508 RCV001707611
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr)	SNV Germline	Chr5:149980674	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Condition: not provided Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia Connective tissue disorder	Criteria Provided Conflicting Classifications	CA3505383	rs_139051143	6 SubmittersRCV001156842 RCV000390686 RCV000705851 RCV001155190 RCV001155191 RCV001155192 RCV001156841 RCV002278323
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 Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	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 Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Condition: not provided	Criteria Provided Conflicting Classifications	CA10619669	rs_191884433	2 SubmittersRCV000289233 RCV000329202 RCV000325584 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 Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	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 Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	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 Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3505558	rs_374692915	3 SubmittersRCV000281557 RCV000372485 RCV000376030 RCV000336484 RCV001439481 RCV000330490 RCV005492820
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 Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Condition: not provided	Criteria Provided Conflicting Classifications	CA3505378	rs_114212275	8 SubmittersRCV000281048 RCV000338459 RCV000312752 RCV000399511 RCV000765823 RCV000390859 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_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)	SNV Unknown	Chr5:149977837	Likely pathogenic	Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA16040984	rs_1057517523	2 SubmittersRCV000409043 RCV000409914 RCV000410073 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	No Assertion Criteria Provided	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 Achondrogenesis, type IB Diastrophic dysplasia	No Assertion Criteria Provided	CA16040989	rs_1057517461	1 SubmittersRCV000409387 RCV000410512 RCV000411619 RCV000411790
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter)	SNV Germline	Chr5:149980339	Pathogenic/Likely pathogenic	Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA16040991	rs_1057517514	5 SubmittersRCV000410567 RCV000411690 RCV000409471 RCV000409703 RCV003766136
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)	SNV Germline	Chr5:149980653	Pathogenic	Atelosteogenesis type II Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA16040994	rs_1057517532	2 SubmittersRCV000409259 RCV000410391 RCV000410579 RCV000411229 RCV001218289
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)	SNV Germline	Chr5:149981300	Pathogenic/Likely pathogenic	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA361708540	rs_766836061	3 SubmittersRCV000588352 RCV000809074 RCV003471936
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser)	SNV Germline	Chr5:149980360	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB not specified	Criteria Provided Conflicting Classifications	CA361706227	rs_1419613966	4 SubmittersRCV000667661 RCV002530719 RCV003472088 RCV004689837
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter)	SNV Germline	Chr5:149981690	Pathogenic	Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA361709796	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 Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA361708728	rs_1554095364	3 SubmittersRCV000665350 RCV001855439 RCV003472070
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)	SNV Germline	Chr5:149980369	Likely pathogenic	Multiple epiphyseal dysplasia type 4 Condition: not provided Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Osteochondrodysplasia	Criteria Provided Multiple Submitters No Conflicts	CA3505319	rs_769319202	5 SubmittersRCV000671782 RCV002531295 RCV002532114 RCV005240437
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)	SNV Germline	Chr5:149981580	Pathogenic	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Osteochondrodysplasia	Criteria Provided Multiple Submitters No Conflicts	CA361709574	rs_1554095397	5 SubmittersRCV000665405 RCV001388087 RCV001835070 RCV004768522
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro)	SNV Germline	Chr5:149981587	Pathogenic	Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA3505527	rs_141798540	2 SubmittersRCV000671750 RCV002531294
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)	SNV Germline	Chr5:149978349	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA361705546	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	CA3505409	rs_201714602	2 SubmittersRCV000805701 RCV003166250
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg)	SNV Germline	Chr5:149980524	Conflicting classifications of pathogenicity	Condition: not provided not specified Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA3505355	rs_377432261	4 SubmittersRCV000998468 RCV005408629 RCV001378389
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)	SNV Germline	Chr5:149980936	Pathogenic	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Single Submitter	CA3505424	rs_771098555	1 SubmittersRCV001036925
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe)	SNV Germline	Chr5:149978347	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Atelosteogenesis type II Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA3505292	rs_75097996	2 SubmittersRCV001151175 RCV001151176 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 Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Conflicting Classifications	CA447402181	rs_1755073343	2 SubmittersRCV001155090 RCV001156737 RCV001156739 RCV001156738 RCV001156740 RCV002070900
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=)	SNV Germline	Chr5:149981774	Conflicting classifications of pathogenicity	Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA447149679	rs_1755110758	2 SubmittersRCV001151725 RCV001151724 RCV001151726 RCV001157184 RCV001157185 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	CA129085130	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	CA129085594	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	CA129085694	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 Sulfate transporter-related osteochondrodysplasia Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia	Criteria Provided Conflicting Classifications	CA129085867	rs_180966130	1 SubmittersRCV001154865 RCV001156539 RCV001156541 RCV001156538 RCV001156540
NM_000112.4(SLC26A2):c.*3918C>T	SNV Germline	Chr5:149985731	Conflicting classifications of pathogenicity	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA129086012	rs_192457706	1 SubmittersRCV001152860 RCV001152861 RCV001154135 RCV001154134 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	CA129086221	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 Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia	Criteria Provided Conflicting Classifications	CA129086363	rs_143908264	1 SubmittersRCV001151303 RCV001154351 RCV001154350 RCV001154352 RCV001154353
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)	SNV Germline	Chr5:149981248	Pathogenic/Likely pathogenic	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA361708329	rs_1755094376	3 SubmittersRCV001193470 RCV001390701 RCV003473731
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)	SNV Germline	Chr5:149981370	Pathogenic/Likely pathogenic	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia SLC26A2-related disorder Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA361708760	rs_905644652	3 SubmittersRCV001212481 RCV004528418 RCV003473759
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	CA361704482	rs_1755020578	3 SubmittersRCV001253229 RCV003770313
NM_000112.4(SLC26A2):c.749A>T (p.Asp250Val)	SNV Germline	Chr5:149980342	Likely pathogenic	Diastrophic dysplasia	No Assertion Criteria Provided	CA361706181	rs_2113697665	1 SubmittersRCV001644999
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)	SNV Germline	Chr5:149980839	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	CA361707460	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 Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3505217	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	CA3505347	rs_761259326	2 SubmittersRCV001416607 RCV002554063
NM_000112.4(SLC26A2):c.893A>G (p.His298Arg)	SNV Germline	Chr5:149980486	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA3505349	rs_115111282	2 SubmittersRCV001413987 RCV001581122
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	CA3505218	rs_200981220	2 SubmittersRCV001434148 RCV001751765
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His)	SNV Germline	Chr5:149977825	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA3505216	rs_199893058	3 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3505418	rs_116443969	3 SubmittersRCV001470639 RCV001773753 RCV005493051
NM_000112.4(SLC26A2):c.439G>T (p.Ala147Ser)	SNV Germline	Chr5:149978091	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA3505248	rs_201012489	2 SubmittersRCV001498399 RCV003738082
NM_000112.4(SLC26A2):c.836G>A (p.Arg279Gln)	SNV Germline	Chr5:149980429	Conflicting classifications of pathogenicity	Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA3505333	rs_114569184	3 SubmittersRCV001506243 RCV004707633
NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro)	SNV Germline	Chr5:149978047	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided Diastrophic dysplasia	Criteria Provided Conflicting Classifications	CA361704903	rs_1755026324	3 SubmittersRCV002276889 RCV003237558 RCV005397012
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg)	SNV Germline	Chr5:149981106	Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia	Criteria Provided Single Submitter	CA361708020	rs_2113698845	1 SubmittersRCV001881354
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter)	SNV Germline	Chr5:149981137	Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA361708095	rs_2113698870	1 SubmittersRCV001969619
NM_000112.4(SLC26A2):c.1277T>A (p.Ile426Asn)	SNV Germline	Chr5:149980870	Likely pathogenic	Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Single Submitter	CA361707534	rs_2113698521	1 SubmittersRCV002050752
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr)	SNV Germline	Chr5:149981736	Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia	Criteria Provided Single Submitter	CA361709909	rs_759438521	1 SubmittersRCV002014921
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr)	SNV Germline	Chr5:149981551	Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II	Criteria Provided Single Submitter	CA361709508	rs_1179580843	1 SubmittersRCV002006672
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter)	SNV Germline	Chr5:149981232	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Achondrogenesis, type IB	Criteria Provided Multiple Submitters No Conflicts	CA3505471	rs_775143472	3 SubmittersRCV001949544 RCV003475248
NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly)	SNV Germline	Chr5:149980750	Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA3505393	rs_386833493	1 SubmittersRCV001977395
NM_000112.4(SLC26A2):c.1277T>C (p.Ile426Thr)	SNV Germline	Chr5:149980870	Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA361707535	rs_2113698521	1 SubmittersRCV001973698
NM_000112.4(SLC26A2):c.1114A>T (p.Lys372Ter)	SNV Germline	Chr5:149980707	Pathogenic	Diastrophic dysplasia	Criteria Provided Single Submitter	CA361707181	rs_1755081510	1 SubmittersRCV002240135
NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter)	SNV Germline	Chr5:149977958	Pathogenic/Likely pathogenic	Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II	Criteria Provided Multiple Submitters No Conflicts	CA361704710	rs_768809642	2 SubmittersRCV002240136 RCV003774690
NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val)	SNV Germline	Chr5:149981611	Conflicting classifications of pathogenicity	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA3505533	rs_774700553	2 SubmittersRCV003060016 RCV005254686
NM_000112.4(SLC26A2):c.1448T>C (p.Leu483Pro)	SNV Germline	Chr5:149981041	Pathogenic/Likely pathogenic	Sulfate transporter-related osteochondrodysplasia Diastrophic dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA361707892	rs_1755089566	2 SubmittersRCV002510336 RCV004527447
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	CA361707847	rs_1272709022	2 SubmittersRCV002820231 RCV003475427
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)	SNV Germline	Chr5:149981550	Likely pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA361709507	rs_104893924	2 SubmittersRCV002791447 RCV004820919
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	CA361706541	rs_1396120018	3 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	CA361707678	rs_771098555	2 SubmittersRCV002861503 RCV004571340
NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter)	SNV Germline	Chr5:149977756	Pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA361703990	rs_1755017552	1 SubmittersRCV002872377
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	CA361708735	rs_2113699208	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	CA361704038	rs_2480770209	1 SubmittersRCV003020212
NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)	SNV Germline	Chr5:149977866	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	CA361704394	rs_1479713112	2 SubmittersRCV003026334 RCV004572579
NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu)	SNV Germline	Chr5:149978136	Conflicting classifications of pathogenicity	not specified Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4	Criteria Provided Conflicting Classifications	CA3505260	rs_752152305	4 SubmittersRCV004690415 RCV003472852 RCV005036823 RCV005254801
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)	SNV Germline	Chr5:149977946	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts	CA3505230	rs_772015926	2 SubmittersRCV003472860 RCV003779114
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)	SNV Germline	Chr5:149980447	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts	CA3505337	rs_140041300	2 SubmittersRCV003472864 RCV003779115
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)	SNV Germline	Chr5:149980929	Pathogenic/Likely pathogenic	Achondrogenesis, type IB Diastrophic dysplasia Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4	Criteria Provided Multiple Submitters No Conflicts	CA361707662	rs_1326271684	3 SubmittersRCV003472865 RCV003779116
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	CA361704966	rs_2113695999	1 SubmittersRCV003803715
NM_000112.4(SLC26A2):c.373C>T (p.Gln125Ter)	SNV Germline	Chr5:149978025	Pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA361704858	rs_1219390670	1 SubmittersRCV003794884
NM_000112.4(SLC26A2):c.1514G>A (p.Trp505Ter)	SNV Germline	Chr5:149981107	Pathogenic	Achondrogenesis, type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia type 4	Criteria Provided Single Submitter	CA361708024	rs_2480776226	1 SubmittersRCV003818025
NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)	SNV Germline	Chr5:149981389	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	CA361708815	rs_2480777083	2 SubmittersRCV004573335 RCV003812585
NM_000112.4(SLC26A2):c.121C>T (p.Gln41Ter)	SNV Germline	Chr5:149977773	Likely pathogenic	Diastrophic dysplasia Multiple epiphyseal dysplasia type 4 Atelosteogenesis type II Achondrogenesis, type IB	Criteria Provided Single Submitter			1 SubmittersRCV005043193

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
SLC26A2-related disorder
Sulfate transporter-related osteochondrodysplasia
Inborn genetic diseases
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Diastrophic dysplasia
Achondrogenesis, type IB
3MC syndrome 2
Connective tissue disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252990

rs_104893915

32 SubmittersRCV000004305 RCV000004306 RCV000004307 RCV000266165 RCV000275762 RCV000586600 RCV000624686 RCV000641290 RCV001030752 RCV001030753 RCV002276530

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252994

rs_104893918

5 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
Condition: not provided
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
SLC26A2-related disorder
3MC syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA259839

rs_104893919

21 SubmittersRCV000004310 RCV000023568 RCV000175526 RCV000411745 RCV000412934 RCV000590163 RCV000690242 RCV000779467 RCV001030754

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

SNV
Germline

Chr5:149980866

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259842

rs_104893920

6 SubmittersRCV000055757 RCV000023569 RCV001851641

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

SNV
Germline

Chr5:149981626

Likely pathogenic

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

Criteria Provided
Single Submitter

CA259844

rs_104893916

4 SubmittersRCV000055761 RCV000023570 RCV000169017 RCV003234891

NM_000112.4(SLC26A2):c.1361A>C (p.Gln454Pro)

SNV
Germline

Chr5:149980954

Pathogenic

Diastrophic dysplasia, broad bone-platyspondylic variant
Diastrophic dysplasia

No Assertion Criteria Provided

CA116646

rs_104893921

2 SubmittersRCV000004311 RCV000055758

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

SNV
Germline

Chr5:149960981

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA340160

rs_386833492

16 SubmittersRCV000004312 RCV000763135 RCV000597319 RCV000724163 RCV000780711 RCV000779466 RCV001030745 RCV000991163 RCV001030744

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

SNV
Germline

Chr5:149981550

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252996

rs_104893924

23 SubmittersRCV000004313 RCV000055760 RCV000411019 RCV000224702 RCV000409936 RCV000477884 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
Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Osteochondrodysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA116649

rs_121908078

3 SubmittersRCV000004314 RCV000004315 RCV002512749 RCV004700186

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

SNV
Germline

Chr5:149980750

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263247

rs_386833493

4 SubmittersRCV000049421 RCV001388086 RCV003474627

NM_000112.4(SLC26A2):c.1451G>A (p.Gly484Asp)

SNV
Unknown

Chr5:149981044

Likely pathogenic

Diastrophic dysplasia

No Assertion Criteria Provided

CA263252

rs_386833496

1 SubmittersRCV000049424

NM_000112.4(SLC26A2):c.331G>T (p.Asp111Tyr)

SNV
Unknown

Chr5:149977983

Likely pathogenic

Diastrophic dysplasia

No Assertion Criteria Provided

CA263260

rs_386833503

1 SubmittersRCV000049431

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

SNV
Germline

Chr5:149977699

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263266

rs_386833505

3 SubmittersRCV000049433 RCV003474628 RCV005042152

NM_000112.4(SLC26A2):c.496G>A (p.Gly166Arg)

SNV
Unknown

Chr5:149978148

Likely pathogenic

Diastrophic dysplasia

No Assertion Criteria Provided

CA263269

rs_386833506

1 SubmittersRCV000049434

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

SNV
Germline

Chr5:149977707

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263272

rs_386833507

5 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
Osteochondrodysplasia
Diastrophic dysplasia
Achondrogenesis, type IB
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type II
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

CA263275

rs_200963884

6 SubmittersRCV000049436 RCV000169177 RCV005055551 RCV002496723 RCV003474629

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

SNV
Germline

Chr5:149977824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA216019

rs_369318758

5 SubmittersRCV000054570 RCV001069051 RCV001271550 RCV004018969

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

SNV
Germline

Chr5:149977676

Conflicting classifications of pathogenicity

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

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

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

Criteria Provided
Conflicting Classifications

CA243097

rs_116302615

9 SubmittersRCV000384318 RCV000884358 RCV000176984 RCV002277384 RCV001704842 RCV000269903 RCV000327465 RCV000333258 RCV000362143

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

SNV
Germline

Chr5:149980787

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505485

rs_745590895

3 SubmittersRCV000250262 RCV000933853 RCV001157069 RCV001157070 RCV001157071 RCV001157072 RCV001157073

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

SNV
Germline

Chr5:149981639

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505542

rs_116657359

3 SubmittersRCV000242222 RCV001154670 RCV001154671 RCV001154667 RCV001154669 RCV000898816 RCV001154668

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

SNV
Germline

Chr5:149977881

Conflicting classifications of pathogenicity

not specified
Achondrogenesis, type IB
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

Criteria Provided
Conflicting Classifications

CA3505223

rs_76784312

11 SubmittersRCV000398136 RCV000539759 RCV001154133 RCV001154972 RCV001154973 RCV001154974 RCV001812767 RCV000987616

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

SNV
Germline

Chr5:149981105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505452

rs_76668544

5 SubmittersRCV000259647 RCV000299908 RCV000361664 RCV000354703 RCV000367416 RCV000407213 RCV001084518

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

SNV
Germline

Chr5:149981680

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505551

rs_34351171

5 SubmittersRCV000324346 RCV000956326 RCV001271508 RCV001707611

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

SNV
Germline

Chr5:149980674

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505383

rs_139051143

6 SubmittersRCV001156842 RCV000390686 RCV000705851 RCV001155190 RCV001155191 RCV001155192 RCV001156841 RCV002278323

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

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

Criteria Provided
Conflicting Classifications

CA10619669

rs_191884433

2 SubmittersRCV000289233 RCV000329202 RCV000325584 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
Atelosteogenesis type II
Achondrogenesis, type IB
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

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

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

Criteria Provided
Conflicting Classifications

CA3505558

rs_374692915

3 SubmittersRCV000281557 RCV000372485 RCV000376030 RCV000336484 RCV001439481 RCV000330490 RCV005492820

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

Criteria Provided
Conflicting Classifications

CA3505378

rs_114212275

8 SubmittersRCV000281048 RCV000338459 RCV000312752 RCV000399511 RCV000765823 RCV000390859 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_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)

SNV
Unknown

Chr5:149977837

Likely pathogenic

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

Criteria Provided
Single Submitter

CA16040984

rs_1057517523

2 SubmittersRCV000409043 RCV000409914 RCV000410073 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

No Assertion Criteria Provided

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
Achondrogenesis, type IB
Diastrophic dysplasia

No Assertion Criteria Provided

CA16040989

rs_1057517461

1 SubmittersRCV000409387 RCV000410512 RCV000411619 RCV000411790

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

SNV
Germline

Chr5:149980339

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16040991

rs_1057517514

5 SubmittersRCV000410567 RCV000411690 RCV000409471 RCV000409703 RCV003766136

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

SNV
Germline

Chr5:149980653

Pathogenic

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

Criteria Provided
Single Submitter

CA16040994

rs_1057517532

2 SubmittersRCV000409259 RCV000410391 RCV000410579 RCV000411229 RCV001218289

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

SNV
Germline

Chr5:149981300

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA361708540

rs_766836061

3 SubmittersRCV000588352 RCV000809074 RCV003471936

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

SNV
Germline

Chr5:149980360

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA361706227

rs_1419613966

4 SubmittersRCV000667661 RCV002530719 RCV003472088 RCV004689837

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

SNV
Germline

Chr5:149981690

Pathogenic

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

Criteria Provided
Single Submitter

CA361709796

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
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB

Criteria Provided
Multiple Submitters
No Conflicts

CA361708728

rs_1554095364

3 SubmittersRCV000665350 RCV001855439 RCV003472070

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

SNV
Germline

Chr5:149980369

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3505319

rs_769319202

5 SubmittersRCV000671782 RCV002531295 RCV002532114 RCV005240437

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

SNV
Germline

Chr5:149981580

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA361709574

rs_1554095397

5 SubmittersRCV000665405 RCV001388087 RCV001835070 RCV004768522

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

SNV
Germline

Chr5:149981587

Pathogenic

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

Criteria Provided
Single Submitter

CA3505527

rs_141798540

2 SubmittersRCV000671750 RCV002531294

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

SNV
Germline

Chr5:149978349

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA361705546

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

CA3505409

rs_201714602

2 SubmittersRCV000805701 RCV003166250

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

SNV
Germline

Chr5:149980524

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505355

rs_377432261

4 SubmittersRCV000998468 RCV005408629 RCV001378389

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

SNV
Germline

Chr5:149980936

Pathogenic

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

Criteria Provided
Single Submitter

CA3505424

rs_771098555

1 SubmittersRCV001036925

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

SNV
Germline

Chr5:149978347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505292

rs_75097996

2 SubmittersRCV001151175 RCV001151176 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
Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia
Achondrogenesis, type IB
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Achondrogenesis, type IB
Atelosteogenesis type II
Diastrophic dysplasia

Criteria Provided
Conflicting Classifications

CA447402181

rs_1755073343

2 SubmittersRCV001155090 RCV001156737 RCV001156739 RCV001156738 RCV001156740 RCV002070900

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

SNV
Germline

Chr5:149981774

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA447149679

rs_1755110758

2 SubmittersRCV001151725 RCV001151724 RCV001151726 RCV001157184 RCV001157185 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

CA129085130

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

CA129085594

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

CA129085694

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

Criteria Provided
Conflicting Classifications

CA129085867

rs_180966130

1 SubmittersRCV001154865 RCV001156539 RCV001156541 RCV001156538 RCV001156540

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

SNV
Germline

Chr5:149985731

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA129086012

rs_192457706

1 SubmittersRCV001152860 RCV001152861 RCV001154135 RCV001154134 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

CA129086221

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

Criteria Provided
Conflicting Classifications

CA129086363

rs_143908264

1 SubmittersRCV001151303 RCV001154351 RCV001154350 RCV001154352 RCV001154353

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

SNV
Germline

Chr5:149981248

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA361708329

rs_1755094376

3 SubmittersRCV001193470 RCV001390701 RCV003473731

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

SNV
Germline

Chr5:149981370

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA361708760

rs_905644652

3 SubmittersRCV001212481 RCV004528418 RCV003473759

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

CA361704482

rs_1755020578

3 SubmittersRCV001253229 RCV003770313

NM_000112.4(SLC26A2):c.749A>T (p.Asp250Val)

SNV
Germline

Chr5:149980342

Likely pathogenic

Diastrophic dysplasia

No Assertion Criteria Provided

CA361706181

rs_2113697665

1 SubmittersRCV001644999

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

SNV
Germline

Chr5:149980839

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

CA361707460

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

Criteria Provided
Conflicting Classifications

CA3505217

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

CA3505347

rs_761259326

2 SubmittersRCV001416607 RCV002554063

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

SNV
Germline

Chr5:149980486

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505349

rs_115111282

2 SubmittersRCV001413987 RCV001581122

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

CA3505218

rs_200981220

2 SubmittersRCV001434148 RCV001751765

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

SNV
Germline

Chr5:149977825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505216

rs_199893058

3 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3505418

rs_116443969

3 SubmittersRCV001470639 RCV001773753 RCV005493051

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

SNV
Germline

Chr5:149978091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505248

rs_201012489

2 SubmittersRCV001498399 RCV003738082

NM_000112.4(SLC26A2):c.836G>A (p.Arg279Gln)

SNV
Germline

Chr5:149980429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505333

rs_114569184

3 SubmittersRCV001506243 RCV004707633

NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro)

SNV
Germline

Chr5:149978047

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Diastrophic dysplasia

Criteria Provided
Conflicting Classifications

CA361704903

rs_1755026324

3 SubmittersRCV002276889 RCV003237558 RCV005397012

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

SNV
Germline

Chr5:149981106

Likely pathogenic

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

Criteria Provided
Single Submitter

CA361708020

rs_2113698845

1 SubmittersRCV001881354

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

SNV
Germline

Chr5:149981137

Likely pathogenic

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

Criteria Provided
Single Submitter

CA361708095

rs_2113698870

1 SubmittersRCV001969619

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

SNV
Germline

Chr5:149980870

Likely pathogenic

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

Criteria Provided
Single Submitter

CA361707534

rs_2113698521

1 SubmittersRCV002050752

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

SNV
Germline

Chr5:149981736

Likely pathogenic

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

Criteria Provided
Single Submitter

CA361709909

rs_759438521

1 SubmittersRCV002014921

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

SNV
Germline

Chr5:149981551

Likely pathogenic

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

Criteria Provided
Single Submitter

CA361709508

rs_1179580843

1 SubmittersRCV002006672

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

SNV
Germline

Chr5:149981232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3505471

rs_775143472

3 SubmittersRCV001949544 RCV003475248

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

SNV
Germline

Chr5:149980750

Likely pathogenic

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

Criteria Provided
Single Submitter

CA3505393

rs_386833493

1 SubmittersRCV001977395

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

SNV
Germline

Chr5:149980870

Likely pathogenic

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

Criteria Provided
Single Submitter

CA361707535

rs_2113698521

1 SubmittersRCV001973698

NM_000112.4(SLC26A2):c.1114A>T (p.Lys372Ter)

SNV
Germline

Chr5:149980707

Pathogenic

Diastrophic dysplasia

Criteria Provided
Single Submitter

CA361707181

rs_1755081510

1 SubmittersRCV002240135

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

SNV
Germline

Chr5:149977958

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA361704710

rs_768809642

2 SubmittersRCV002240136 RCV003774690

NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val)

SNV
Germline

Chr5:149981611

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505533

rs_774700553

2 SubmittersRCV003060016 RCV005254686

NM_000112.4(SLC26A2):c.1448T>C (p.Leu483Pro)

SNV
Germline

Chr5:149981041

Pathogenic/Likely pathogenic

Sulfate transporter-related osteochondrodysplasia
Diastrophic dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA361707892

rs_1755089566

2 SubmittersRCV002510336 RCV004527447

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

CA361707847

rs_1272709022

2 SubmittersRCV002820231 RCV003475427

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

SNV
Germline

Chr5:149981550

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA361709507

rs_104893924

2 SubmittersRCV002791447 RCV004820919

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

CA361706541

rs_1396120018

3 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

CA361707678

rs_771098555

2 SubmittersRCV002861503 RCV004571340

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

SNV
Germline

Chr5:149977756

Pathogenic

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

Criteria Provided
Single Submitter

CA361703990

rs_1755017552

1 SubmittersRCV002872377

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

CA361708735

rs_2113699208

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

CA361704038

rs_2480770209

1 SubmittersRCV003020212

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

SNV
Germline

Chr5:149977866

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

CA361704394

rs_1479713112

2 SubmittersRCV003026334 RCV004572579

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

SNV
Germline

Chr5:149978136

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3505260

rs_752152305

4 SubmittersRCV004690415 RCV003472852 RCV005036823 RCV005254801

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

SNV
Germline

Chr5:149977946

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3505230

rs_772015926