SLC26A2 — 897 ClinVar variants

All ClinVar germline SLC26A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 273 flagged for review →

71 Pathogenic · 58 Pathogenic/Likely pathogenic · 95 Likely pathogenic · 50 Conflicting · 17 Benign · 17 Benign/Likely benign · 258 Likely benign · 331 Uncertain significance

Full SLC26A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 273

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SLC26A2 p.Gln454Pro Likely pathogenic Multiple submitters
osteochondrodysplasia
SLC26A2 p.Ala386Gly Likely pathogenic Single submitter
achondrogenesis type IB

Predictors agree, ClinVar conflicts 22

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC26A2 p.Ala147Ser Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Ala361Thr Conflicting Single submitter
Sulfate transporter-related osteochondrodysplasia
SLC26A2 p.Arg58Cys Conflicting Single submitter
Inborn genetic diseases
SLC26A2 p.Arg58His Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Asn65Asp Conflicting Single submitter
atelosteogenesis type II
SLC26A2 p.Asn696Ser Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Asn77His Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Cys311Arg Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Cys653Tyr Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Gly242Val Conflicting Single submitter
diastrophic dysplasia
SLC26A2 p.Gly255Glu Conflicting Single submitter
osteochondrodysplasia
SLC26A2 p.His292Arg Conflicting Single submitter
Inborn genetic diseases
SLC26A2 p.His298Arg Conflicting Single submitter
diastrophic dysplasia
SLC26A2 p.His432Arg Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Ile607Val Conflicting Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Leu132Pro Conflicting Single submitter
connective tissue disorder
SLC26A2 p.Met236Val Conflicting Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Phe256Ser Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Phe349Tyr Conflicting Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Phe66Leu Conflicting Single submitter
Inborn genetic diseases
SLC26A2 p.Tyr710Cys Conflicting Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Val412Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 169

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 169

SLC26A2 p.Ala235Val Uncertain significance Multiple submitters
multiple epiphyseal dysplasia type 4
SLC26A2 p.Arg496His Uncertain significance Multiple submitters
diastrophic dysplasia
SLC26A2 p.Arg53Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Gln32Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Gly115Ala Uncertain significance Multiple submitters
SLC26A2 p.Gly282Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Gly282Cys Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Gly362Val Uncertain significance Multiple submitters
diastrophic dysplasia
SLC26A2 p.Gly393Asp Uncertain significance Multiple submitters
multiple epiphyseal dysplasia type 4
SLC26A2 p.Gly422Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.His452Arg Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.His9Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Ile539Val Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Lys351Arg Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Lys372Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Met418Val Uncertain significance Multiple submitters
multiple epiphyseal dysplasia type 4
SLC26A2 p.Met88Ile Uncertain significance Multiple submitters
multiple epiphyseal dysplasia type 4
SLC26A2 p.Phe238Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Phe39Leu Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Pro374Ser Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Pro94Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Tyr217Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Val11Ile Uncertain significance Multiple submitters
SLC26A2 p.Val314Ile Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Val398Ile Uncertain significance Multiple submitters
diastrophic dysplasia
SLC26A2 p.Val557Ala Uncertain significance Multiple submitters
diastrophic dysplasia
SLC26A2 p.Ala183Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ala343Val Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ala386Glu Uncertain significance Single submitter
SLC26A2 p.Ala386Thr Uncertain significance Single submitter
SLC26A2 p.Ala420Thr Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Ala461Ser Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ala616Val Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Ala617Thr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Arg158His Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Arg210Ser Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Arg279Pro Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Arg496Cys Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Asn187Ser Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Asn199Ser Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Asn281His Uncertain significance Single submitter
Sulfate transporter-related osteochondrodysplasia
SLC26A2 p.Asn322Ser Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Asn45Ser Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Asn687Ser Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Asp103Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Asp209Glu Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Asp385Ala Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Asp385Asn Uncertain significance Single submitter
SLC26A2 p.Asp46Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Asp633Val Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Asp63Gly Uncertain significance Single submitter
SLC26A2 p.Gln240Leu Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Glu179Lys Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Glu669Val Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Glu698Asp Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Glu7Gly Uncertain significance Single submitter
atelosteogenesis type II
SLC26A2 p.Gly237Val Uncertain significance Single submitter
Sulfate transporter-related osteochondrodysplasia
SLC26A2 p.Gly259Ser Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Gly534Arg Uncertain significance Single submitter
SLC26A2-related disorder
SLC26A2 p.His189Arg Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.His206Arg Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.His28Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.His298Asn Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.His324Tyr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.His353Arg Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.His353Tyr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.His408Gln Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ile127Met Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ile164Val Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ile172Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ile306Met Uncertain significance Single submitter
SLC26A2 p.Ile335Val Uncertain significance Single submitter
SLC26A2 p.Ile364Thr Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Ile379Leu Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Ile391Val Uncertain significance Single submitter
SLC26A2 p.Ile396Val Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ile486Thr Uncertain significance Single submitter
SLC26A2 p.Ile488Val Uncertain significance Single submitter
SLC26A2 p.Ile529Met Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ile539Lys Uncertain significance Single submitter
atelosteogenesis type II
SLC26A2 p.Ile651Thr Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Leu204Val Uncertain significance Single submitter
atelosteogenesis type II
SLC26A2 p.Leu272His Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Leu273Pro Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Leu309Phe Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Leu468Phe Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Leu483Phe Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Leu525Val Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Leu554Phe Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Leu556Met Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Leu556Phe Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Leu587Phe Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Leu628Val Uncertain significance Single submitter
SLC26A2 p.Leu682Val Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Leu707Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Lys106Glu Uncertain significance Single submitter
SLC26A2 p.Lys299Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Lys372Arg Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Lys575Arg Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Lys579Glu Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Lys67Gln Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Met236Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Met716Thr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Met716Val Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Phe431Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Phe581Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Phe69Leu Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Phe69Val Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Pro124Thr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Pro473Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Pro50Leu Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Pro643Ser Uncertain significance Single submitter
SLC26A2 p.Ser130Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ser144Tyr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser157Thr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser16Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ser190Gly Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser25Cys Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser308Arg Uncertain significance Single submitter
SLC26A2 p.Ser327Phe Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser347Phe Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser358Phe Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Ser358Pro Uncertain significance Single submitter
SLC26A2-related disorder
SLC26A2 p.Ser390Phe Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser481Thr Uncertain significance Single submitter
connective tissue disorder
SLC26A2 p.Ser522Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ser522Pro Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser552Leu Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Ser735Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Thr266Ile Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Thr318Ile Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Thr64Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Thr689Ala Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Trp613Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Tyr247Cys Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Tyr410Cys Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Val339Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Val384Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Val467Ile Uncertain significance Single submitter
SLC26A2 p.Val533Phe Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Val562Ala Uncertain significance Single submitter
atelosteogenesis type II
SLC26A2 p.Val611Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Val681Asp Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Val690Leu Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Ala128Val Uncertain significance No assertion criteria
achondrogenesis type IB
SLC26A2 p.Asp642His Uncertain significance No assertion criteria
SLC26A2-related disorder
SLC26A2 p.Asp642Tyr Uncertain significance No assertion criteria
achondrogenesis type IB
SLC26A2 p.Cys686Tyr Uncertain significance No assertion criteria
diastrophic dysplasia
SLC26A2 p.Gln632Glu Uncertain significance No assertion criteria
achondrogenesis type IB
SLC26A2 p.Gly237Ser Uncertain significance No assertion criteria
achondrogenesis type IB

Predictors split 80

The independent predictors disagree with each other — read with care.

SLC26A2 p.Arg158Cys Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Arg178Gln Uncertain significance Multiple submitters
multiple epiphyseal dysplasia type 4
SLC26A2 p.Arg492Trp Benign/Likely benign Multiple submitters
connective tissue disorder
SLC26A2 p.Arg545Cys Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Arg545His Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Arg582Cys Uncertain significance Multiple submitters
multiple epiphyseal dysplasia type 4
SLC26A2 p.Arg582His Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Arg671Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Arg671His Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Asn425Asp Pathogenic/Likely pathogenic Multiple submitters
SLC26A2-related disorder
SLC26A2 p.Gln135Lys Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.His647Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Lys319Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Lys596Glu Uncertain significance Multiple submitters
achondrogenesis type IB
SLC26A2 p.Ser261Cys Uncertain significance Multiple submitters
diastrophic dysplasia
SLC26A2 p.Tyr232Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Tyr674Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC26A2 p.Ala133Val Conflicting Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Ala260Val Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ala414Val Uncertain significance Single submitter
atelosteogenesis type II
SLC26A2 p.Ala438Ser Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ala494Val Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Arg279Gln Conflicting Single submitter
atelosteogenesis type II
SLC26A2 p.Arg582Leu Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Asn199Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Asn301Ser Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Asp177Tyr Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Asp673Gly Uncertain significance Single submitter
SLC26A2 p.Asp673Val Conflicting Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Cys212Phe Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Cys78Gly Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Gln240Glu Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Glu593Gln Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Gly282Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Gly422Ala Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Gly450Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Ile306Phe Uncertain significance Single submitter
SLC26A2 p.Ile426Thr Likely pathogenic Single submitter
achondrogenesis type IB
SLC26A2 p.Ile488Thr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ile514Thr Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Ile580Thr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ile664Met Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ile679Met Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Leu265Phe Uncertain significance Single submitter
Sulfate transporter-related osteochondrodysplasia
SLC26A2 p.Leu275Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Leu275Val Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Leu469Val Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Leu531Val Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Lys328Glu Uncertain significance Single submitter
SLC26A2 p.Lys480Arg Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Lys596Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Met403Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Met504Ile Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Met519Thr Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Phe475Leu Uncertain significance Single submitter
atelosteogenesis type II
SLC26A2 p.Phe537Leu Uncertain significance Single submitter
Sulfate transporter-related osteochondrodysplasia
SLC26A2 p.Pro100Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Pro278Leu Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Pro371Leu Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Pro606Ser Uncertain significance Single submitter
SLC26A2 p.Pro606Thr Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser285Leu Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ser722Pro Uncertain significance Single submitter
multiple epiphyseal dysplasia type 4
SLC26A2 p.Thr289Asn Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Thr436Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Thr518Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC26A2 p.Thr546Ala Uncertain significance Single submitter
diastrophic dysplasia
SLC26A2 p.Tyr232Phe Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Tyr476Cys Conflicting Single submitter
diastrophic dysplasia
SLC26A2 p.Val162Leu Conflicting Single submitter
achondrogenesis type IB
SLC26A2 p.Val517Leu Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Val690Met Uncertain significance Single submitter
achondrogenesis type IB
SLC26A2 p.Ala439Thr Uncertain significance No assertion criteria
achondrogenesis type IB
SLC26A2 p.Ala461Val Likely pathogenic No assertion criteria
atelosteogenesis type II
SLC26A2 p.Gln125Leu Pathogenic No assertion criteria
atelosteogenesis type II
SLC26A2 p.Gln75Pro Uncertain significance No assertion criteria
achondrogenesis type IB
SLC26A2 p.His408Tyr Uncertain significance No assertion criteria
achondrogenesis type IB
SLC26A2 p.Leu315Val Uncertain significance No assertion criteria
achondrogenesis type IB
SLC26A2 p.Thr207Ile Uncertain significance No assertion criteria
achondrogenesis type IB
SLC26A2 p.Tyr600His Uncertain significance No assertion criteria

All SLC26A2 variants

Pathogenic 71

c.-26+2T>C Multiple submitters SLC26A2-related disorder
p.Arg178Ter Multiple submitters SLC26A2-related disorder
p.Glu34fs Multiple submitters diastrophic dysplasia
p.Lys575fs Multiple submitters SLC26A2-related disorder
p.Lys73fs Multiple submitters diastrophic dysplasia
p.Ser308fs Multiple submitters multiple epiphyseal dysplasia type 4
p.Ser448Ter Multiple submitters achondrogenesis type IB
p.Thr512Lys Multiple submitters osteochondrodysplasia
p.Asn281Ter Single submitter achondrogenesis type IB
p.Asn355fs Single submitter diastrophic dysplasia
p.Asn425Ter Single submitter diastrophic dysplasia
p.Asn591fs Single submitter diastrophic dysplasia
p.Asn696_Gly697delinsLysTer Single submitter diastrophic dysplasia
p.Asn696fs Single submitter achondrogenesis type IB
p.Asp103fs Single submitter atelosteogenesis type II
p.Asp21fs Single submitter diastrophic dysplasia
p.Asp385fs Single submitter diastrophic dysplasia
p.Gln125Ter Single submitter achondrogenesis type IB
p.Gln135fs Single submitter achondrogenesis type IB
p.Gln47fs Single submitter achondrogenesis type IB
p.Gln602fs Single submitter achondrogenesis type IB
p.Gln657fs Single submitter achondrogenesis type IB
p.Glu30fs Single submitter diastrophic dysplasia
p.Glu320Ter Single submitter osteochondrodysplasia
p.Glu354Ter Single submitter multiple epiphyseal dysplasia type 4
p.Glu402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer Single submitter achondrogenesis type IB
p.Glu669fs Single submitter diastrophic dysplasia
p.Glu704fs Single submitter atelosteogenesis type II
p.Gly115_Leu116insTer Single submitter diastrophic dysplasia
p.Gly195fs Single submitter diastrophic dysplasia
p.Ile574fs Single submitter diastrophic dysplasia
p.Ile590delinsArgLeuSerGlnAlaSerArgPheSerAlaLeuTer Single submitter diastrophic dysplasia
p.Ile649fs Single submitter multiple epiphyseal dysplasia type 4
p.Leu309fs Single submitter achondrogenesis type IB
p.Leu321fs Single submitter achondrogenesis type IB
p.Leu465fs Single submitter achondrogenesis type IB
p.Leu478fs Single submitter achondrogenesis type IB
p.Leu495fs Single submitter atelosteogenesis type II
p.Leu531fs Single submitter diastrophic dysplasia
p.Leu93fs Single submitter achondrogenesis type IB
p.Lys372Ter Single submitter diastrophic dysplasia
p.Lys40Ter Single submitter achondrogenesis type IB
p.Met504_Trp505del Single submitter achondrogenesis type IB
p.Pro24fs Single submitter multiple epiphyseal dysplasia type 4
p.Pro428fs Single submitter
p.Pro82fs Single submitter multiple epiphyseal dysplasia type 4
p.Ser190Ter Single submitter diastrophic dysplasia
p.Ser35Ter Single submitter atelosteogenesis type II
p.Ser551fs Single submitter multiple epiphyseal dysplasia type 4
p.Ser567fs Single submitter diastrophic dysplasia
p.Ser81fs Single submitter achondrogenesis type IB
p.Thr266fs Single submitter achondrogenesis type IB
p.Thr436fs Single submitter diastrophic dysplasia
p.Thr512fs Single submitter diastrophic dysplasia
p.Thr689fs Single submitter achondrogenesis type IB
p.Trp505Ter Single submitter atelosteogenesis type II
p.Trp98fs Single submitter achondrogenesis type IB
p.Tyr142Ter Single submitter achondrogenesis type IB
p.Tyr232Ter Single submitter achondrogenesis type IB
p.Tyr271Ter Single submitter diastrophic dysplasia
p.Tyr589Ter Single submitter achondrogenesis type IB
p.Tyr699fs Single submitter atelosteogenesis type II
p.Tyr699Ter Single submitter achondrogenesis type IB
p.Val162fs Single submitter achondrogenesis type IB
p.Val293fs Single submitter diastrophic dysplasia
p.Val382_Ala383insTer Single submitter diastrophic dysplasia
p.Val542fs Single submitter achondrogenesis type IB
p.Val604fs Single submitter achondrogenesis type IB
c.699+2T>C No assertion criteria achondrogenesis type IB
p.Gln125Leu No assertion criteria atelosteogenesis type II ⚠
p.Ser522Phe No assertion criteria multiple epiphyseal dysplasia type 4

Pathogenic/Likely pathogenic 58

c.700-1G>C Multiple submitters osteochondrodysplasia
p.Ala147fs Multiple submitters achondrogenesis type IB
p.Ala386Val Multiple submitters achondrogenesis type IB
p.Ala616fs Multiple submitters achondrogenesis type IB
p.Ala715Val Multiple submitters multiple epiphyseal dysplasia type 4
p.Arg279Trp Multiple submitters connective tissue disorder
p.Arg49fs Multiple submitters Sulfate transporter-related osteochondrodysplasia
p.Asn425Asp Multiple submitters SLC26A2-related disorder ⚠
p.Asp46fs Multiple submitters diastrophic dysplasia
p.Asp652fs Multiple submitters osteochondrodysplasia
p.Asp673fs Multiple submitters achondrogenesis type IB
p.Cys303Ter Multiple submitters achondrogenesis type IB
p.Cys311fs Multiple submitters achondrogenesis type IB
p.Cys653Ser Multiple submitters SLC26A2-related disorder
p.Gln233Ter Multiple submitters achondrogenesis type IB
p.Gln416Ter Multiple submitters achondrogenesis type IB
p.Gln547Ter Multiple submitters achondrogenesis type IB
p.Gln79Ter Multiple submitters achondrogenesis type IB
p.Glu593Ter Multiple submitters SLC26A2-related disorder
p.Gly19Ter Multiple submitters achondrogenesis type IB
p.Gly663Arg Multiple submitters achondrogenesis type IB
p.His665fs Multiple submitters diastrophic dysplasia
p.His665Pro Multiple submitters achondrogenesis type IB
p.Ile514fs Multiple submitters multiple epiphyseal dysplasia type 4
p.Ile651fs Multiple submitters achondrogenesis type IB
p.Leu131fs Multiple submitters multiple epiphyseal dysplasia type 4
p.Leu275fs Multiple submitters achondrogenesis type IB
p.Leu302_Cys303insTer Multiple submitters achondrogenesis type IB
p.Leu466fs Multiple submitters achondrogenesis type IB
p.Leu474fs Multiple submitters osteochondrodysplasia
p.Leu483Pro Multiple submitters Sulfate transporter-related osteochondrodysplasia
p.Leu544fs Multiple submitters achondrogenesis type IB
p.Leu572fs Multiple submitters achondrogenesis type IB
p.Leu599Ter Multiple submitters atelosteogenesis type II
p.Lys446Ter Multiple submitters achondrogenesis type IB
p.Lys497fs Multiple submitters diastrophic dysplasia
p.Lys550fs Multiple submitters multiple epiphyseal dysplasia type 4
p.Lys72Ter Multiple submitters achondrogenesis type IB
p.Met236fs Multiple submitters achondrogenesis type IB
p.Pro100fs Multiple submitters achondrogenesis type IB
p.Pro192_Ser193insTer Multiple submitters achondrogenesis type IB
p.Pro606fs Multiple submitters achondrogenesis type IB
p.Ser285Ter Multiple submitters achondrogenesis type IB
p.Ser481fs Multiple submitters achondrogenesis type IB
p.Ser552Ter Multiple submitters multiple epiphyseal dysplasia type 4
p.Ser5fs Multiple submitters achondrogenesis type IB
p.Thr289_Trp290insTer Multiple submitters achondrogenesis type IB
p.Thr603fs Multiple submitters multiple epiphyseal dysplasia type 4
p.Thr627fs Multiple submitters achondrogenesis type IB
p.Thr661fs Multiple submitters multiple epiphyseal dysplasia type 4
p.Trp98Ter Multiple submitters achondrogenesis type IB
p.Tyr102Ter Multiple submitters diastrophic dysplasia
p.Tyr151fs Multiple submitters multiple epiphyseal dysplasia type 4
p.Tyr476Ter Multiple submitters achondrogenesis type IB
p.Tyr569Ter Multiple submitters diastrophic dysplasia
p.Tyr588Ter Multiple submitters achondrogenesis type IB
p.Val246fs Multiple submitters multiple epiphyseal dysplasia type 4
p.Val341del Multiple submitters SLC26A2-related disorder

Likely pathogenic 95

p.Ala438fs Multiple submitters achondrogenesis type IB
p.Asn45fs Multiple submitters achondrogenesis type IB
p.Cys541fs Multiple submitters achondrogenesis type IB
p.Cys653Gly Multiple submitters diastrophic dysplasia
p.Gln41Ter Multiple submitters achondrogenesis type IB
p.Gln454Pro Multiple submitters osteochondrodysplasia ⚠
p.Gly259Val Multiple submitters achondrogenesis type IB
p.Gly678Val Multiple submitters osteochondrodysplasia
p.Lys579fs Multiple submitters achondrogenesis type IB
p.Ser16Ter Multiple submitters achondrogenesis type IB
c.-26+1G>A Single submitter achondrogenesis type IB
c.-26+1G>T Single submitter multiple epiphyseal dysplasia type 4
p.Ala386Gly Single submitter achondrogenesis type IB ⚠
p.Ala414fs Single submitter achondrogenesis type IB
p.Ala684fs Single submitter achondrogenesis type IB
p.Ala715Thr Single submitter achondrogenesis type IB
p.Arg210_Cys212delinsThrValAlaTer Single submitter achondrogenesis type IB
p.Asn205fs Single submitter achondrogenesis type IB
p.Asp213fs Single submitter achondrogenesis type IB
p.Asp38fs Single submitter achondrogenesis type IB
p.Cys216_Tyr217insTer Single submitter achondrogenesis type IB
p.Cys686_Asn687delinsTer Single submitter achondrogenesis type IB
p.Cys686fs Single submitter achondrogenesis type IB
p.Cys686Ter Single submitter SLC26A2-related disorder
p.Gln240fs Single submitter achondrogenesis type IB
p.Gln479fs Single submitter achondrogenesis type IB
p.Gln47Ter Single submitter achondrogenesis type IB
p.Gln685Ter Single submitter achondrogenesis type IB
p.Gln75fs Single submitter achondrogenesis type IB
p.Glu703fs Single submitter achondrogenesis type IB
p.Gly350Ter Single submitter achondrogenesis type IB
p.Gly484Arg Single submitter diastrophic dysplasia
p.Gly697Ter Single submitter achondrogenesis type IB
p.Gly91fs Single submitter achondrogenesis type IB
p.His298fs Single submitter achondrogenesis type IB
p.His52fs Single submitter achondrogenesis type IB
p.Ile426Asn Single submitter achondrogenesis type IB
p.Ile426Thr Single submitter achondrogenesis type IB ⚠
p.Ile56fs Single submitter achondrogenesis type IB
p.Leu204Ter Single submitter diastrophic dysplasia
p.Leu253Gln Single submitter
p.Leu315Pro Single submitter diastrophic dysplasia
p.Leu345Ter Single submitter osteochondrodysplasia
p.Leu644fs Single submitter achondrogenesis type IB
p.Leu707fs Single submitter achondrogenesis type IB
p.Lys105fs Single submitter achondrogenesis type IB
p.Lys270fs Single submitter achondrogenesis type IB
p.Lys406fs Single submitter achondrogenesis type IB
p.Lys620fs Single submitter achondrogenesis type IB
p.Lys72fs Single submitter achondrogenesis type IB
p.Met113delinsIleTer Single submitter achondrogenesis type IB
p.Met1Ile Single submitter achondrogenesis type IB
p.Met1Lys Single submitter achondrogenesis type IB
p.Met418Arg Single submitter atelosteogenesis type II
p.Phe146fs Single submitter achondrogenesis type IB
p.Phe69fs Single submitter achondrogenesis type IB
p.Phe709fs Single submitter achondrogenesis type IB
p.Pro13fs Single submitter achondrogenesis type IB
p.Ser157Pro Single submitter multiple epiphyseal dysplasia type 4
p.Ser215fs Single submitter achondrogenesis type IB
p.Ser249Ter Single submitter multiple epiphyseal dysplasia type 4
p.Ser381fs Single submitter achondrogenesis type IB
p.Ser62Ter Single submitter achondrogenesis type IB
p.Thr37fs Single submitter
p.Thr453Ile Single submitter diastrophic dysplasia
p.Thr460fs Single submitter achondrogenesis type IB
p.Trp505Arg Single submitter achondrogenesis type IB
p.Trp515Ter Single submitter achondrogenesis type IB
p.Trp613Ter Single submitter achondrogenesis type IB
p.Tyr600Ter Single submitter achondrogenesis type IB
p.Val167fs Single submitter achondrogenesis type IB
p.Val459fs Single submitter achondrogenesis type IB
p.Val533fs Single submitter achondrogenesis type IB
p.Val611fs Single submitter
p.Val690fs Single submitter Sulfate transporter-related osteochondrodysplasia
c.700-2A>G No assertion criteria multiple epiphyseal dysplasia type 4
p.Ala461Val No assertion criteria atelosteogenesis type II ⚠
p.Ala662fs No assertion criteria diastrophic dysplasia
p.Asn415fs No assertion criteria diastrophic dysplasia
p.Asn87fs No assertion criteria diastrophic dysplasia
p.Asp111Tyr No assertion criteria diastrophic dysplasia
p.Asp250Val No assertion criteria diastrophic dysplasia
p.Asp63fs No assertion criteria achondrogenesis type IB
p.Cys536fs No assertion criteria multiple epiphyseal dysplasia type 4
p.Cys653fs No assertion criteria multiple epiphyseal dysplasia type 4
p.Gln181Ter No assertion criteria achondrogenesis type IB
p.Glu447fs No assertion criteria achondrogenesis type IB
p.Gly166Arg No assertion criteria diastrophic dysplasia
p.Gly484Asp No assertion criteria diastrophic dysplasia
p.Leu109fs No assertion criteria multiple epiphyseal dysplasia type 4
p.Leu667fs No assertion criteria achondrogenesis type IB
p.Phe658_Leu659insTer No assertion criteria achondrogenesis type IB
p.Thr307fs No assertion criteria achondrogenesis type IB
p.Tyr129Ter No assertion criteria multiple epiphyseal dysplasia type 4
p.Val459dup No assertion criteria diastrophic dysplasia

Conflicting classifications of pathogenicity 50

c.-183G>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1970G>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*205G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2476T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2873C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*330G>T Single submitter achondrogenesis type IB
c.*3507T>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*3918C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4419A>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*443T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4659G>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4799G>A Single submitter achondrogenesis type IB
c.*4930C>T Single submitter achondrogenesis type IB
p.Ala133Val Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Ala147Ser Single submitter achondrogenesis type IB ⚠
p.Ala331= Single submitter achondrogenesis type IB
p.Ala361Thr Single submitter Sulfate transporter-related osteochondrodysplasia ⚠
p.Ala715= Single submitter achondrogenesis type IB
p.Arg279Gln Single submitter atelosteogenesis type II ⚠
p.Arg58Cys Single submitter Inborn genetic diseases ⚠
p.Arg58His Single submitter achondrogenesis type IB ⚠
p.Asn65Asp Single submitter atelosteogenesis type II ⚠
p.Asn696Ser Single submitter achondrogenesis type IB ⚠
p.Asn77His Single submitter achondrogenesis type IB ⚠
p.Asp673Val Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Cys311Arg Single submitter achondrogenesis type IB ⚠
p.Cys653Tyr Single submitter achondrogenesis type IB ⚠
p.Gln8= Single submitter multiple epiphyseal dysplasia type 4
p.Gly242Val Single submitter diastrophic dysplasia ⚠
p.Gly255Glu Single submitter osteochondrodysplasia ⚠
p.Gly678Leu Single submitter achondrogenesis type IB
p.Gly727= Single submitter achondrogenesis type IB
p.His292Arg Single submitter Inborn genetic diseases ⚠
p.His298Arg Single submitter diastrophic dysplasia ⚠
p.His432Arg Single submitter achondrogenesis type IB ⚠
p.Ile607Val Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Leu132Pro Single submitter connective tissue disorder ⚠
p.Leu587= Single submitter achondrogenesis type IB
p.Leu682= Single submitter diastrophic dysplasia
p.Met236Val Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Met504Ile Single submitter achondrogenesis type IB ⚠
p.Phe256Ser Single submitter achondrogenesis type IB ⚠
p.Phe349Tyr Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Phe66Leu Single submitter Inborn genetic diseases ⚠
p.Tyr232Phe Single submitter achondrogenesis type IB ⚠
p.Tyr476Cys Single submitter diastrophic dysplasia ⚠
p.Tyr710Cys Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Val162Leu Single submitter achondrogenesis type IB ⚠
p.Val398= Single submitter achondrogenesis type IB
p.Val412Ile Single submitter Inborn genetic diseases ⚠

Benign 17

c.*2226C>T Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*3404C>T Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*3670G>A Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*4460G>T Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*4982A>G Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*590C>T Multiple submitters achondrogenesis type IB
p.Ile574Thr Multiple submitters connective tissue disorder
c.700-231G>C Single submitter
c.700-292dup Single submitter
c.-25-131A>G Single submitter
c.-25-228G>A Single submitter
c.*1024T>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1631C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1892dup Single submitter
c.*4469del Single submitter
c.*5338T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*5553G>A Single submitter Sulfate transporter-related osteochondrodysplasia

Benign/Likely benign 17

c.*2612C>T Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*2617C>T Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*3466C>G Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*4391G>T Multiple submitters achondrogenesis type IB
c.*600G>T Multiple submitters Sulfate transporter-related osteochondrodysplasia
c.*83T>G Multiple submitters
p.Arg492Trp Multiple submitters connective tissue disorder ⚠
p.Ile219Val Multiple submitters multiple epiphyseal dysplasia type 4
p.Pro549= Multiple submitters connective tissue disorder
p.Ter740= Multiple submitters connective tissue disorder
p.Thr156= Multiple submitters achondrogenesis type IB
p.Thr689Ser Multiple submitters connective tissue disorder
p.Val470= Multiple submitters achondrogenesis type IB
c.*1552G>C Single submitter achondrogenesis type IB
c.*2780G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*394T>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*938T>C Single submitter Sulfate transporter-related osteochondrodysplasia

Likely benign 258

c.699+20T>C Multiple submitters multiple epiphyseal dysplasia type 4
p.Ala235= Multiple submitters multiple epiphyseal dysplasia type 4
p.Ala269= Multiple submitters achondrogenesis type IB
p.Asn696= Multiple submitters atelosteogenesis type II
p.Asp38= Multiple submitters diastrophic dysplasia
p.Gly184= Multiple submitters achondrogenesis type IB
p.Val467= Multiple submitters multiple epiphyseal dysplasia type 4
c.699+11A>G Single submitter multiple epiphyseal dysplasia type 4
c.699+14A>G Single submitter diastrophic dysplasia
c.699+15A>G Single submitter achondrogenesis type IB
c.699+17C>T Single submitter achondrogenesis type IB
c.699+19A>G Single submitter diastrophic dysplasia
c.700-12C>A Single submitter achondrogenesis type IB
c.700-14A>G Single submitter achondrogenesis type IB
c.700-15T>C Single submitter multiple epiphyseal dysplasia type 4
c.700-16A>G Single submitter achondrogenesis type IB
c.700-18C>T Single submitter achondrogenesis type IB
c.700-8C>T Single submitter achondrogenesis type IB
c.-26+18G>A Single submitter
p.Ala128= Single submitter achondrogenesis type IB
p.Ala147= Single submitter achondrogenesis type IB
p.Ala17= Single submitter achondrogenesis type IB
p.Ala191= Single submitter diastrophic dysplasia
p.Ala229= Single submitter achondrogenesis type IB
p.Ala346= Single submitter multiple epiphyseal dysplasia type 4
p.Ala386= Single submitter diastrophic dysplasia
p.Ala472= Single submitter achondrogenesis type IB
p.Ala523= Single submitter achondrogenesis type IB
p.Ala617= Single submitter diastrophic dysplasia
p.Ala85= Single submitter diastrophic dysplasia
p.Arg158= Single submitter achondrogenesis type IB
p.Arg178= Single submitter achondrogenesis type IB
p.Arg210= Single submitter diastrophic dysplasia
p.Arg492= Single submitter diastrophic dysplasia
p.Arg499= Single submitter atelosteogenesis type II
p.Arg53= Single submitter diastrophic dysplasia
p.Arg671= Single submitter atelosteogenesis type II
p.Asn10= Single submitter achondrogenesis type IB
p.Asn107= Single submitter diastrophic dysplasia
p.Asn10Asp Single submitter Inborn genetic diseases
p.Asn187= Single submitter multiple epiphyseal dysplasia type 4
p.Asn296= Single submitter achondrogenesis type IB
p.Asn301= Single submitter multiple epiphyseal dysplasia type 4
p.Asn377= Single submitter achondrogenesis type IB
p.Asn415= Single submitter multiple epiphyseal dysplasia type 4
p.Asn45= Single submitter diastrophic dysplasia
p.Asn591= Single submitter achondrogenesis type IB
p.Asn87= Single submitter diastrophic dysplasia
p.Asp186= Single submitter atelosteogenesis type II
p.Asp209= Single submitter achondrogenesis type IB
p.Asp250= Single submitter multiple epiphyseal dysplasia type 4
p.Asp660= Single submitter diastrophic dysplasia
p.Cys212= Single submitter diastrophic dysplasia
p.Cys311= Single submitter multiple epiphyseal dysplasia type 4
p.Cys451= Single submitter atelosteogenesis type II
p.Cys48= Single submitter achondrogenesis type IB
p.Cys594= Single submitter achondrogenesis type IB
p.Cys653= Single submitter diastrophic dysplasia
p.Cys700= Single submitter achondrogenesis type IB
p.Gln125= Single submitter diastrophic dysplasia
p.Gln32= Single submitter achondrogenesis type IB
p.Gln454= Single submitter atelosteogenesis type II
p.Gln47= Single submitter diastrophic dysplasia
p.Gln479= Single submitter achondrogenesis type IB
p.Gln547= Single submitter atelosteogenesis type II
p.Gln573= Single submitter diastrophic dysplasia
p.Gln59= Single submitter diastrophic dysplasia
p.Gln602= Single submitter achondrogenesis type IB
p.Gln657= Single submitter achondrogenesis type IB
p.Gln685= Single submitter diastrophic dysplasia
p.Gln97= Single submitter achondrogenesis type IB
p.Gln97Arg Single submitter Inborn genetic diseases
p.Glu136= Single submitter
p.Glu30= Single submitter achondrogenesis type IB
p.Glu375= Single submitter achondrogenesis type IB
p.Glu4= Single submitter achondrogenesis type IB
p.Glu447= Single submitter achondrogenesis type IB
p.Glu57= Single submitter achondrogenesis type IB
p.Glu593= Single submitter diastrophic dysplasia
p.Glu675= Single submitter atelosteogenesis type II
p.Glu68= Single submitter diastrophic dysplasia
p.Glu698= Single submitter multiple epiphyseal dysplasia type 4
p.Glu7= Single submitter multiple epiphyseal dysplasia type 4
p.Gly134= Single submitter achondrogenesis type IB
p.Gly140= Single submitter atelosteogenesis type II
p.Gly19= Single submitter achondrogenesis type IB
p.Gly200= Single submitter atelosteogenesis type II
p.Gly255= Single submitter achondrogenesis type IB
p.Gly259= Single submitter atelosteogenesis type II
p.Gly26= Single submitter achondrogenesis type IB
p.Gly282= Single submitter achondrogenesis type IB
p.Gly362= Single submitter diastrophic dysplasia
p.Gly367= Single submitter achondrogenesis type IB
p.Gly409= Single submitter multiple epiphyseal dysplasia type 4
p.Gly484= Single submitter multiple epiphyseal dysplasia type 4
p.Gly577= Single submitter diastrophic dysplasia
p.Gly663= Single submitter diastrophic dysplasia
p.Gly678= Single submitter atelosteogenesis type II
p.His292= Single submitter multiple epiphyseal dysplasia type 4
p.His353= Single submitter achondrogenesis type IB
p.His408= Single submitter achondrogenesis type IB
p.His665= Single submitter achondrogenesis type IB
p.Ile160= Single submitter achondrogenesis type IB
p.Ile27= Single submitter atelosteogenesis type II
p.Ile396= Single submitter diastrophic dysplasia
p.Ile486= Single submitter atelosteogenesis type II
p.Ile514= Single submitter achondrogenesis type IB
p.Ile54= Single submitter achondrogenesis type IB
p.Ile543= Single submitter achondrogenesis type IB
p.Ile580= Single submitter atelosteogenesis type II
p.Ile590= Single submitter multiple epiphyseal dysplasia type 4
p.Ile649= Single submitter achondrogenesis type IB
p.Ile664= Single submitter atelosteogenesis type II
p.Ile679= Single submitter achondrogenesis type IB
p.Leu104= Single submitter atelosteogenesis type II
p.Leu109= Single submitter achondrogenesis type IB
p.Leu122= Single submitter achondrogenesis type IB
p.Leu131= Single submitter achondrogenesis type IB
p.Leu141= Single submitter multiple epiphyseal dysplasia type 4
p.Leu153= Single submitter achondrogenesis type IB
p.Leu168= Single submitter achondrogenesis type IB
p.Leu180= Single submitter achondrogenesis type IB
p.Leu203= Single submitter diastrophic dysplasia
p.Leu252= Single submitter atelosteogenesis type II
p.Leu253= Single submitter achondrogenesis type IB
p.Leu265= Single submitter atelosteogenesis type II
p.Leu286= Single submitter diastrophic dysplasia
p.Leu31= Single submitter achondrogenesis type IB
p.Leu321= Single submitter achondrogenesis type IB
p.Leu329= Single submitter diastrophic dysplasia
p.Leu337= Single submitter diastrophic dysplasia
p.Leu352= Single submitter achondrogenesis type IB
p.Leu440= Single submitter multiple epiphyseal dysplasia type 4
p.Leu444= Single submitter achondrogenesis type IB
p.Leu455= Single submitter atelosteogenesis type II
p.Leu462= Single submitter atelosteogenesis type II
p.Leu465= Single submitter diastrophic dysplasia
p.Leu466= Single submitter atelosteogenesis type II
p.Leu468= Single submitter diastrophic dysplasia
p.Leu469= Single submitter atelosteogenesis type II
p.Leu478= Single submitter diastrophic dysplasia
p.Leu491= Single submitter atelosteogenesis type II
p.Leu520= Single submitter diastrophic dysplasia
p.Leu524= Single submitter diastrophic dysplasia
p.Leu525= Single submitter achondrogenesis type IB
p.Leu544= Single submitter achondrogenesis type IB
p.Leu55= Single submitter achondrogenesis type IB
p.Leu599= Single submitter achondrogenesis type IB
p.Leu628Phe Single submitter Inborn genetic diseases
p.Leu646= Single submitter atelosteogenesis type II
p.Leu667= Single submitter diastrophic dysplasia
p.Leu683= Single submitter achondrogenesis type IB
p.Leu694= Single submitter achondrogenesis type IB
p.Leu708= Single submitter achondrogenesis type IB
p.Leu93= Single submitter diastrophic dysplasia
p.Leu99= Single submitter atelosteogenesis type II
p.Lys105= Single submitter achondrogenesis type IB
p.Lys270= Single submitter multiple epiphyseal dysplasia type 4
p.Lys299= Single submitter achondrogenesis type IB
p.Lys328= Single submitter atelosteogenesis type II
p.Lys351= Single submitter atelosteogenesis type II
p.Lys548= Single submitter diastrophic dysplasia
p.Lys592= Single submitter diastrophic dysplasia
p.Lys596= Single submitter diastrophic dysplasia
p.Lys618= Single submitter achondrogenesis type IB
p.Lys624= Single submitter atelosteogenesis type II
p.Lys668= Single submitter diastrophic dysplasia
p.Lys72= Single submitter multiple epiphyseal dysplasia type 4
p.Lys76= Single submitter achondrogenesis type IB
p.Phe262= Single submitter achondrogenesis type IB
p.Phe294= Single submitter diastrophic dysplasia
p.Phe39= Single submitter atelosteogenesis type II
p.Phe423= Single submitter achondrogenesis type IB
p.Phe434= Single submitter diastrophic dysplasia
p.Phe498= Single submitter achondrogenesis type IB
p.Phe595= Single submitter achondrogenesis type IB
p.Phe709= Single submitter achondrogenesis type IB
p.Phe92= Single submitter achondrogenesis type IB
p.Pro124= Single submitter atelosteogenesis type II
p.Pro137= Single submitter achondrogenesis type IB
p.Pro24= Single submitter diastrophic dysplasia
p.Pro317= Single submitter achondrogenesis type IB
p.Pro332= Single submitter diastrophic dysplasia
p.Pro428= Single submitter achondrogenesis type IB
p.Pro502= Single submitter achondrogenesis type IB
p.Pro576= Single submitter achondrogenesis type IB
p.Pro606= Single submitter achondrogenesis type IB
p.Pro688= Single submitter achondrogenesis type IB
p.Pro731= Single submitter diastrophic dysplasia
p.Pro82= Single submitter multiple epiphyseal dysplasia type 4
p.Ser126= Single submitter diastrophic dysplasia
p.Ser130= Single submitter atelosteogenesis type II
p.Ser215= Single submitter achondrogenesis type IB
p.Ser25= Single submitter achondrogenesis type IB
p.Ser285= Single submitter achondrogenesis type IB
p.Ser308= Single submitter multiple epiphyseal dysplasia type 4
p.Ser35= Single submitter diastrophic dysplasia
p.Ser390= Single submitter achondrogenesis type IB
p.Ser399= Single submitter achondrogenesis type IB
p.Ser5= Single submitter achondrogenesis type IB
p.Ser552= Single submitter atelosteogenesis type II
p.Ser560= Single submitter achondrogenesis type IB
p.Ser636= Single submitter atelosteogenesis type II
p.Ser654= Single submitter diastrophic dysplasia
p.Ser81= Single submitter diastrophic dysplasia
p.Thr143= Single submitter diastrophic dysplasia
p.Thr175= Single submitter achondrogenesis type IB
p.Thr202= Single submitter diastrophic dysplasia
p.Thr224= Single submitter achondrogenesis type IB
p.Thr226= Single submitter diastrophic dysplasia
p.Thr258= Single submitter diastrophic dysplasia
p.Thr288= Single submitter achondrogenesis type IB
p.Thr289= Single submitter multiple epiphyseal dysplasia type 4
p.Thr307= Single submitter multiple epiphyseal dysplasia type 4
p.Thr344= Single submitter achondrogenesis type IB
p.Thr366= Single submitter diastrophic dysplasia
p.Thr435= Single submitter atelosteogenesis type II
p.Thr44= Single submitter diastrophic dysplasia
p.Thr443= Single submitter multiple epiphyseal dysplasia type 4
p.Thr518= Single submitter achondrogenesis type IB
p.Thr603= Single submitter achondrogenesis type IB
p.Thr648= Single submitter diastrophic dysplasia
p.Thr666= Single submitter atelosteogenesis type II
p.Thr689= Single submitter achondrogenesis type IB
p.Thr695= Single submitter achondrogenesis type IB
p.Tyr102= Single submitter diastrophic dysplasia
p.Tyr142= Single submitter achondrogenesis type IB
p.Tyr217= Single submitter atelosteogenesis type II
p.Tyr23= Single submitter achondrogenesis type IB
p.Tyr232= Single submitter diastrophic dysplasia
p.Tyr410= Single submitter atelosteogenesis type II
p.Tyr419= Single submitter atelosteogenesis type II
p.Tyr51= Single submitter diastrophic dysplasia
p.Tyr569= Single submitter diastrophic dysplasia
p.Tyr589= Single submitter multiple epiphyseal dysplasia type 4
p.Tyr699= Single submitter diastrophic dysplasia
p.Tyr710= Single submitter achondrogenesis type IB
p.Val118= Single submitter diastrophic dysplasia
p.Val138= Single submitter diastrophic dysplasia
p.Val244= Single submitter diastrophic dysplasia
p.Val257= Single submitter atelosteogenesis type II
p.Val339= Single submitter achondrogenesis type IB
p.Val340= Single submitter achondrogenesis type IB
p.Val341= Single submitter diastrophic dysplasia
p.Val373= Single submitter diastrophic dysplasia
p.Val458= Single submitter achondrogenesis type IB
p.Val482= Single submitter achondrogenesis type IB
p.Val517= Single submitter diastrophic dysplasia
p.Val535= Single submitter atelosteogenesis type II
p.Val566= Single submitter diastrophic dysplasia
p.Val611= Single submitter achondrogenesis type IB
p.Val626= Single submitter atelosteogenesis type II
p.Val650= Single submitter atelosteogenesis type II
p.Val70= Single submitter diastrophic dysplasia
p.Val712= Single submitter achondrogenesis type IB
p.Val728= Single submitter achondrogenesis type IB
p.Val728Ile Single submitter Inborn genetic diseases
p.Val730= Single submitter achondrogenesis type IB

Uncertain significance 331

Showing the top 300 by review status; the full set is in the sitemap.

c.699+3A>C Multiple submitters achondrogenesis type IB
p.Ala235Val Multiple submitters multiple epiphyseal dysplasia type 4 ⚠
p.Arg158Cys Multiple submitters achondrogenesis type IB ⚠
p.Arg178Gln Multiple submitters multiple epiphyseal dysplasia type 4 ⚠
p.Arg496His Multiple submitters diastrophic dysplasia ⚠
p.Arg53Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg545Cys Multiple submitters achondrogenesis type IB ⚠
p.Arg545His Multiple submitters achondrogenesis type IB ⚠
p.Arg582Cys Multiple submitters multiple epiphyseal dysplasia type 4 ⚠
p.Arg582His Multiple submitters achondrogenesis type IB ⚠
p.Arg671Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg671His Multiple submitters achondrogenesis type IB ⚠
p.Gln135Lys Multiple submitters achondrogenesis type IB ⚠
p.Gln32Leu Multiple submitters Inborn genetic diseases ⚠
p.Gly115Ala Multiple submitters ⚠
p.Gly282Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly282Cys Multiple submitters achondrogenesis type IB ⚠
p.Gly362Val Multiple submitters diastrophic dysplasia ⚠
p.Gly393Asp Multiple submitters multiple epiphyseal dysplasia type 4 ⚠
p.Gly422Ser Multiple submitters Inborn genetic diseases ⚠
p.His452Arg Multiple submitters achondrogenesis type IB ⚠
p.His647Tyr Multiple submitters Inborn genetic diseases ⚠
p.His9Asp Multiple submitters Inborn genetic diseases ⚠
p.Ile539Val Multiple submitters achondrogenesis type IB ⚠
p.Lys319Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys351Arg Multiple submitters achondrogenesis type IB ⚠
p.Lys372Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys596Glu Multiple submitters achondrogenesis type IB ⚠
p.Lys76del Multiple submitters achondrogenesis type IB
p.Met418Val Multiple submitters multiple epiphyseal dysplasia type 4 ⚠
p.Met88Ile Multiple submitters multiple epiphyseal dysplasia type 4 ⚠
p.Phe238Val Multiple submitters Inborn genetic diseases ⚠
p.Phe39Leu Multiple submitters achondrogenesis type IB ⚠
p.Pro374Ser Multiple submitters achondrogenesis type IB ⚠
p.Pro94Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser261Cys Multiple submitters diastrophic dysplasia ⚠
p.Tyr217Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr232Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr674Cys Multiple submitters Inborn genetic diseases ⚠
p.Val11Ile Multiple submitters ⚠
p.Val314Ile Multiple submitters achondrogenesis type IB ⚠
p.Val341dup Multiple submitters diastrophic dysplasia
p.Val398Ile Multiple submitters diastrophic dysplasia ⚠
p.Val557Ala Multiple submitters diastrophic dysplasia ⚠
c.699+13G>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.-162T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.-163T>C Single submitter achondrogenesis type IB
c.-235T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.-26+4A>G Single submitter
c.-40G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1032G>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1040T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1071G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1146G>T Single submitter achondrogenesis type IB
c.*1260C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1376T>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1427G>A Single submitter achondrogenesis type IB
c.*1543C>T Single submitter achondrogenesis type IB
c.*1588T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*182C>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*1935T>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2003A>G Single submitter achondrogenesis type IB
c.*204C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*216T>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2176A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*220T>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2212T>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2232A>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2265C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2289T>C Single submitter achondrogenesis type IB
c.*2330C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2357T>C Single submitter achondrogenesis type IB
c.*2443A>G Single submitter achondrogenesis type IB
c.*2470T>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2603T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*264C>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2720C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2772C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2790G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2970G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*2978A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*300C>T Single submitter achondrogenesis type IB
c.*3037G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*3044G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*3165G>A Single submitter achondrogenesis type IB
c.*3225T>C Single submitter achondrogenesis type IB
c.*3261A>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*3262T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*3307A>G Single submitter achondrogenesis type IB
c.*3360A>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*3435C>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*3580A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*3940C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4017C>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4104A>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4224A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4333G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4462T>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4514T>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*453G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4586C>T Single submitter achondrogenesis type IB
c.*4612G>A Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4782A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*4857A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*5077A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*5203C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*5214A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*5251C>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*5387T>G Single submitter achondrogenesis type IB
c.*53C>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*5416A>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*693G>T Single submitter Sulfate transporter-related osteochondrodysplasia
c.*834T>C Single submitter Sulfate transporter-related osteochondrodysplasia
c.*896A>G Single submitter Sulfate transporter-related osteochondrodysplasia
c.*974C>G Single submitter achondrogenesis type IB
p.Ala183Pro Single submitter Inborn genetic diseases ⚠
p.Ala260Val Single submitter achondrogenesis type IB ⚠
p.Ala331del Single submitter achondrogenesis type IB
p.Ala343Val Single submitter achondrogenesis type IB ⚠
p.Ala386Glu Single submitter ⚠
p.Ala386Thr Single submitter ⚠
p.Ala414Val Single submitter atelosteogenesis type II ⚠
p.Ala420Thr Single submitter diastrophic dysplasia ⚠
p.Ala438Ser Single submitter achondrogenesis type IB ⚠
p.Ala461Ser Single submitter achondrogenesis type IB ⚠
p.Ala494Val Single submitter achondrogenesis type IB ⚠
p.Ala616Val Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Ala617Thr Single submitter achondrogenesis type IB ⚠
p.Arg158His Single submitter achondrogenesis type IB ⚠
p.Arg158Leu Single submitter achondrogenesis type IB
p.Arg210Ser Single submitter achondrogenesis type IB ⚠
p.Arg279= Single submitter
p.Arg279Pro Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Arg496Cys Single submitter achondrogenesis type IB ⚠
p.Arg582Leu Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Asn187Ser Single submitter achondrogenesis type IB ⚠
p.Asn199Asp Single submitter Inborn genetic diseases ⚠
p.Asn199Ser Single submitter diastrophic dysplasia ⚠
p.Asn281_Thr288del Single submitter multiple epiphyseal dysplasia type 4
p.Asn281His Single submitter Sulfate transporter-related osteochondrodysplasia ⚠
p.Asn301Ser Single submitter achondrogenesis type IB ⚠
p.Asn322Ser Single submitter achondrogenesis type IB ⚠
p.Asn45Ser Single submitter diastrophic dysplasia ⚠
p.Asn687Ser Single submitter achondrogenesis type IB ⚠
p.Asp103Asn Single submitter Inborn genetic diseases ⚠
p.Asp177Tyr Single submitter diastrophic dysplasia ⚠
p.Asp209Glu Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Asp385Ala Single submitter diastrophic dysplasia ⚠
p.Asp385Asn Single submitter ⚠
p.Asp46Tyr Single submitter Inborn genetic diseases ⚠
p.Asp633Val Single submitter achondrogenesis type IB ⚠
p.Asp63Gly Single submitter ⚠
p.Asp673Gly Single submitter ⚠
p.Asp739fs Single submitter achondrogenesis type IB
p.Cys212Phe Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Cys78Gly Single submitter diastrophic dysplasia ⚠
p.Gln240Glu Single submitter achondrogenesis type IB ⚠
p.Gln240Leu Single submitter achondrogenesis type IB ⚠
p.Glu179Lys Single submitter diastrophic dysplasia ⚠
p.Glu593Gln Single submitter Inborn genetic diseases ⚠
p.Glu669Val Single submitter diastrophic dysplasia ⚠
p.Glu698Asp Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Glu7Gly Single submitter atelosteogenesis type II ⚠
p.Gly237Val Single submitter Sulfate transporter-related osteochondrodysplasia ⚠
p.Gly259Ser Single submitter achondrogenesis type IB ⚠
p.Gly282Asp Single submitter Inborn genetic diseases ⚠
p.Gly422Ala Single submitter achondrogenesis type IB ⚠
p.Gly450Ser Single submitter Inborn genetic diseases ⚠
p.Gly534Arg Single submitter SLC26A2-related disorder ⚠
p.His189Arg Single submitter achondrogenesis type IB ⚠
p.His206Arg Single submitter achondrogenesis type IB ⚠
p.His28Arg Single submitter Inborn genetic diseases ⚠
p.His298Asn Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.His324Tyr Single submitter achondrogenesis type IB ⚠
p.His353Arg Single submitter achondrogenesis type IB ⚠
p.His353Tyr Single submitter achondrogenesis type IB ⚠
p.His408Gln Single submitter Inborn genetic diseases ⚠
p.Ile127Met Single submitter achondrogenesis type IB ⚠
p.Ile164Val Single submitter Inborn genetic diseases ⚠
p.Ile172Thr Single submitter Inborn genetic diseases ⚠
p.Ile306Met Single submitter ⚠
p.Ile306Phe Single submitter ⚠
p.Ile335Val Single submitter ⚠
p.Ile364Thr Single submitter diastrophic dysplasia ⚠
p.Ile379Leu Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Ile391Val Single submitter ⚠
p.Ile396Val Single submitter Inborn genetic diseases ⚠
p.Ile486Thr Single submitter ⚠
p.Ile488Thr Single submitter achondrogenesis type IB ⚠
p.Ile488Val Single submitter ⚠
p.Ile514Thr Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Ile529Met Single submitter Inborn genetic diseases ⚠
p.Ile539Lys Single submitter atelosteogenesis type II ⚠
p.Ile580Thr Single submitter achondrogenesis type IB ⚠
p.Ile607fs Single submitter diastrophic dysplasia
p.Ile651Thr Single submitter diastrophic dysplasia ⚠
p.Ile664Met Single submitter achondrogenesis type IB ⚠
p.Ile679Met Single submitter achondrogenesis type IB ⚠
p.Leu204Val Single submitter atelosteogenesis type II ⚠
p.Leu265Phe Single submitter Sulfate transporter-related osteochondrodysplasia ⚠
p.Leu272His Single submitter diastrophic dysplasia ⚠
p.Leu273Pro Single submitter achondrogenesis type IB ⚠
p.Leu275Ile Single submitter Inborn genetic diseases ⚠
p.Leu275Val Single submitter diastrophic dysplasia ⚠
p.Leu309Phe Single submitter achondrogenesis type IB ⚠
p.Leu468Phe Single submitter achondrogenesis type IB ⚠
p.Leu469Val Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Leu483Phe Single submitter achondrogenesis type IB ⚠
p.Leu525Val Single submitter Inborn genetic diseases ⚠
p.Leu531Val Single submitter Inborn genetic diseases ⚠
p.Leu554Phe Single submitter diastrophic dysplasia ⚠
p.Leu556Met Single submitter diastrophic dysplasia ⚠
p.Leu556Phe Single submitter achondrogenesis type IB ⚠
p.Leu587Phe Single submitter achondrogenesis type IB ⚠
p.Leu628Val Single submitter ⚠
p.Leu682Val Single submitter achondrogenesis type IB ⚠
p.Leu707Phe Single submitter Inborn genetic diseases ⚠
p.Lys106Glu Single submitter ⚠
p.Lys299Glu Single submitter Inborn genetic diseases ⚠
p.Lys328Glu Single submitter ⚠
p.Lys372Arg Single submitter achondrogenesis type IB ⚠
p.Lys480Arg Single submitter achondrogenesis type IB ⚠
p.Lys575Arg Single submitter achondrogenesis type IB ⚠
p.Lys579Glu Single submitter achondrogenesis type IB ⚠
p.Lys596Asn Single submitter Inborn genetic diseases ⚠
p.Lys615del Single submitter multiple epiphyseal dysplasia type 4
p.Lys67Gln Single submitter achondrogenesis type IB ⚠
p.Met236Thr Single submitter Inborn genetic diseases ⚠
p.Met403Thr Single submitter Inborn genetic diseases ⚠
p.Met519Thr Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Met716Thr Single submitter achondrogenesis type IB ⚠
p.Met716Val Single submitter achondrogenesis type IB ⚠
p.Phe431Tyr Single submitter Inborn genetic diseases ⚠
p.Phe475Leu Single submitter atelosteogenesis type II ⚠
p.Phe537Leu Single submitter Sulfate transporter-related osteochondrodysplasia ⚠
p.Phe581Leu Single submitter Inborn genetic diseases ⚠
p.Phe69Leu Single submitter achondrogenesis type IB ⚠
p.Phe69Val Single submitter Inborn genetic diseases ⚠
p.Pro100Leu Single submitter Inborn genetic diseases ⚠
p.Pro124Thr Single submitter achondrogenesis type IB ⚠
p.Pro278Leu Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Pro371Leu Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Pro473Leu Single submitter Inborn genetic diseases ⚠
p.Pro50Leu Single submitter achondrogenesis type IB ⚠
p.Pro606Ser Single submitter ⚠
p.Pro606Thr Single submitter achondrogenesis type IB ⚠
p.Pro643Ser Single submitter ⚠
p.Ser130Phe Single submitter Inborn genetic diseases ⚠
p.Ser144Tyr Single submitter achondrogenesis type IB ⚠
p.Ser157Thr Single submitter achondrogenesis type IB ⚠
p.Ser16Leu Single submitter Inborn genetic diseases ⚠
p.Ser190Gly Single submitter achondrogenesis type IB ⚠
p.Ser25Cys Single submitter achondrogenesis type IB ⚠
p.Ser285Leu Single submitter achondrogenesis type IB ⚠
p.Ser308Arg Single submitter ⚠
p.Ser327Phe Single submitter achondrogenesis type IB ⚠
p.Ser347Phe Single submitter achondrogenesis type IB ⚠
p.Ser358Phe Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Ser358Pro Single submitter SLC26A2-related disorder ⚠
p.Ser390Phe Single submitter achondrogenesis type IB ⚠
p.Ser481= Single submitter connective tissue disorder
p.Ser481Thr Single submitter connective tissue disorder ⚠
p.Ser522Cys Single submitter Inborn genetic diseases ⚠
p.Ser522Pro Single submitter achondrogenesis type IB ⚠
p.Ser552Leu Single submitter diastrophic dysplasia ⚠
p.Ser722Pro Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Ser735Thr Single submitter Inborn genetic diseases ⚠
p.Thr266Ile Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Thr289Asn Single submitter achondrogenesis type IB ⚠
p.Thr318Ile Single submitter achondrogenesis type IB ⚠
p.Thr436Ala Single submitter Inborn genetic diseases ⚠
p.Thr512Ile Single submitter multiple epiphyseal dysplasia type 4
p.Thr518Ala Single submitter Inborn genetic diseases ⚠
p.Thr546Ala Single submitter diastrophic dysplasia ⚠
p.Thr64Arg Single submitter Inborn genetic diseases ⚠
p.Thr689Ala Single submitter achondrogenesis type IB ⚠
p.Trp613Leu Single submitter Inborn genetic diseases ⚠
p.Tyr247Cys Single submitter achondrogenesis type IB ⚠
p.Tyr410Cys Single submitter multiple epiphyseal dysplasia type 4 ⚠
p.Val339Ile Single submitter Inborn genetic diseases ⚠
p.Val384Leu Single submitter Inborn genetic diseases ⚠
p.Val467Ile Single submitter ⚠
p.Val517Leu Single submitter achondrogenesis type IB ⚠
p.Val533Phe Single submitter diastrophic dysplasia ⚠
p.Val562Ala Single submitter atelosteogenesis type II ⚠
p.Val611Leu Single submitter Inborn genetic diseases ⚠
p.Val681Asp Single submitter achondrogenesis type IB ⚠
p.Val690Leu Single submitter diastrophic dysplasia ⚠
p.Val690Met Single submitter achondrogenesis type IB ⚠
p.83AK[1] No assertion criteria multiple epiphyseal dysplasia type 4
p.Ala128Val No assertion criteria achondrogenesis type IB ⚠
p.Ala343dup No assertion criteria multiple epiphyseal dysplasia type 4
p.Ala405= No assertion criteria
p.Ala439Thr No assertion criteria achondrogenesis type IB ⚠
p.Asp642His No assertion criteria SLC26A2-related disorder ⚠
p.Asp642Tyr No assertion criteria achondrogenesis type IB ⚠
p.Cys216= No assertion criteria achondrogenesis type IB
p.Cys686Tyr No assertion criteria diastrophic dysplasia ⚠
p.Gln632Glu No assertion criteria achondrogenesis type IB ⚠
p.Gln75Pro No assertion criteria achondrogenesis type IB ⚠