DYNC2I2 — 562 ClinVar variants

All ClinVar germline DYNC2I2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →

30 Pathogenic · 11 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 9 Conflicting · 19 Benign · 9 Benign/Likely benign · 228 Likely benign · 245 Uncertain significance

Full DYNC2I2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 233

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 5

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

DYNC2I2 p.Arg182Trp Pathogenic/Likely pathogenic Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala341Val Pathogenic No assertion criteria
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gln466Pro Pathogenic/Likely pathogenic No assertion criteria
asphyxiating thoracic dystrophy 3
DYNC2I2 p.Lys436Arg Pathogenic No assertion criteria
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Thr354Ala Pathogenic/Likely pathogenic No assertion criteria
asphyxiating thoracic dystrophy 3

Predictors agree, ClinVar conflicts 4

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

DYNC2I2 p.His391Asp Conflicting Single submitter
Fetal anomalies with a likely genetic cause
DYNC2I2 p.Ile58Ser Conflicting Single submitter
Inborn genetic diseases
DYNC2I2 p.Pro100Leu Conflicting Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Thr190Met Conflicting Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly

Predictors lean, ClinVar uncertain 190

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 190

DYNC2I2 p.Ala131Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala13Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Ala219Thr Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala369Val Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Ala500Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala535Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala5Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Ala73Asp Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala85Thr Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg113Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Arg202Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Arg249Cys Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg249His Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Arg257Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Arg321Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Arg330Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Arg373Leu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg373Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Arg522Gln Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg522Gly Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gln143Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Gln385Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Gln385His Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Glu277Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Glu334Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Gly14Arg Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly302Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.His185Arg Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.His416Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Ile105Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ile301Met Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Ile476Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Leu433Val Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Met422Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Pro210Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Pro32Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Pro35Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Pro92Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Pro99Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Pro99Leu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ser15Asn Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ser211Leu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ser248Asn Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ser455Pro Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ser47Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Thr338Met Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Thr3Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Thr517Met Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Thr89Met Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Tyr486His Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Val213Met Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Val286Met Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Val485Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Val97Met Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Ala109Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala109Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala13Pro Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala159Val Uncertain significance Single submitter
DYNC2I2 p.Ala16Thr Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Ala19Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala20Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala27Val Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Ala2Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala313Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala337Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala366Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala370Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala384Pro Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala452Pro Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala453Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala454Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala454Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala46Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala524Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala535Glu Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Ala536Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala5Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala5Val Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Ala75Val Uncertain significance Single submitter
DYNC2I2 p.Arg107Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg107Ser Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Arg121Gln Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Arg257Gly Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Arg283Cys Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Arg34Leu Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Arg442Cys Uncertain significance Single submitter
DYNC2I2 p.Arg442His Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg53Lys Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Asp267Glu Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Asp414Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Asp502Asn Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gln142Glu Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Gln318Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gln385Glu Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Gln39Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gln493Lys Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Gln494Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gln6Leu Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Gln6Pro Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Glu141Lys Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Glu310Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Glu41Asp Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Glu41Gln Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Glu482Lys Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Glu525Lys Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Glu61Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly17Asp Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly236Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly25Val Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Gly293Trp Uncertain significance Single submitter
DYNC2I2-related disorder
DYNC2I2 p.Gly300Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly304Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly331Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly336Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly367Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly415Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly44Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly520Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Gly8Val Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.His130Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.His185Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.His226Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ile58Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Leu10Val Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Leu191Phe Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Leu314Val Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Leu371Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Leu407Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Leu419Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Leu431Met Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Leu475Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Lys326Asn Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Lys471Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Lys477Asn Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Lys477Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Lys63Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Met145Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Met316Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Phe284Ser Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Phe358Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Pro155Leu Uncertain significance Single submitter
DYNC2I2 p.Pro210Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Pro230Ser Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Pro359Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Pro35Leu Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Pro379Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Pro390Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Pro390Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Pro49Ser Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Pro521Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly

Predictors split 34

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

DYNC2I2 p.Arg113Trp Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg202Trp Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg381Trp Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg522Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Glu241Lys Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Leu296Val Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Phe342Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Pro253Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Thr67Met Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Tyr486Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DYNC2I2 p.Val195Met Uncertain significance Multiple submitters
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala177Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala224Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala234Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ala499Val Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg182Gln Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Arg53Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Glu116Asp Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Gly393Asp Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.His391Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Leu112Ile Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Phe194Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Pro402Ser Uncertain significance Single submitter
DYNC2I2 p.Ser239Ile Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Ser430Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Thr228Met Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Thr264Ile Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Thr354Met Conflicting Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Thr473Pro Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Trp139Arg Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Tyr437Cys Conflicting Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Val441Met Uncertain significance Single submitter
short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2 p.Val460Met Uncertain significance Single submitter
Inborn genetic diseases
DYNC2I2 p.Phe312Ser Pathogenic/Likely pathogenic No assertion criteria
Jeune syndrome

All DYNC2I2 variants

Pathogenic 30

p.Arg121Ter Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Phe439fs Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala22fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala440fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Arg373fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Arg447Gln Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln102fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln158Ter Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln432Ter Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln504_Gly505insTer Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln511Ter Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln86fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Glu116fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Glu489fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.His391fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.His82fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu319fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Lys436fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Lys477fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Phe403fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro427fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro9fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser11fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser401fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser50Ter Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr151fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val398fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.982-2A>C No assertion criteria short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala341Val No assertion criteria short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Lys436Arg No assertion criteria short-rib thoracic dysplasia 11 with or without polydactyly ⚠

Pathogenic/Likely pathogenic 11

c.1372+1G>A Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Arg182Trp Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg447Trp Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Glu368fs Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu438fs Multiple submitters DYNC2I2 & WDR34-related disorders
p.Pro210fs Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro32fs Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln466Pro No assertion criteria asphyxiating thoracic dystrophy 3 ⚠
p.Glu523fs No assertion criteria Jeune syndrome
p.Phe312Ser No assertion criteria Jeune syndrome ⚠
p.Thr354Ala No assertion criteria asphyxiating thoracic dystrophy 3 ⚠

Likely pathogenic 11

c.186+2T>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.545+1G>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.546-1_547del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.981+1G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Arg203Ter Single submitter WDR34-related disorders
p.Arg447Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly259Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro268fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser28fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr473fs Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr514fs Single submitter WDR34-related disorders

Conflicting classifications of pathogenicity 9

p.Gln494Ter Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly336= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly36Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.His391Asp Single submitter Fetal anomalies with a likely genetic cause ⚠
p.Ile58Ser Single submitter Inborn genetic diseases ⚠
p.Pro100Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr190Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr354Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Tyr437Cys Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠

Benign 19

c.187-3C>A Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
c.545+12C>T Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
c.703+20C>T Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
c.703+217A>T Multiple submitters
c.703+42C>G Multiple submitters
c.-20G>T Multiple submitters
p.Gln209= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu319= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro210= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr291= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Trp60Gly Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Tyr103= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
c.1214+16_1214+22del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.186+57GGCTGCCGGGCGGGTTCGGGCGTCCCACCGT[2] Single submitter
c.436-233C>G Single submitter
c.*5T>G Single submitter
p.Arg442= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp246= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu475Phe Single submitter short-rib thoracic dysplasia 11 with or without polydactyly

Benign/Likely benign 9

c.1373-5T>G Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala159= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala22Val Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Arg206Cys Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly356Ser Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr140= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr372= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr517= Multiple submitters Inborn genetic diseases
p.Val450= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly

Likely benign 228

c.1215-6G>A Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
c.187-10C>T Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
c.435+11G>A Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
c.814-119T>C Multiple submitters
p.Ala535= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp459= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro7= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro7Ser Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser166= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser363= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser76= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr190= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr338= Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
c.1214+119C>T Single submitter
c.1214+8G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1215-10T>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1215-15C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1215-18C>G Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1215-7C>G Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1215-7C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1215-9C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+10_1372+14del Single submitter
c.1372+10G>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+12_1372+18del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+13C>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+13C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+13dup Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+14G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+16_1372+17del Single submitter
c.1372+16T>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+19G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1372+20C>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-10C>G Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-12CT[2] Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-14G>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-16_1373-15del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-16C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-19dup Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-20G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-20G>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-6_1373-5del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-6T>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.1373-9T>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.186+10C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.186+14C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.186+15C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.186+17C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.186+31C>T Single submitter
c.186+7G>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.186+9G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.187-11C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.187-18_187-17insTTGTA Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.187-233T>C Single submitter
c.187-8C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.435+12G>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.435+13C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.435+142C>T Single submitter
c.435+15G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.435+16dup Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.435+18_435+29del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.435+7del Single submitter
c.436-11C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.436-19G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.436-19G>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.436-209C>G Single submitter
c.436-20G>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.436-248G>A Single submitter
c.436-4G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.436-4G>C Single submitter
c.436-4G>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.436-5C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.545+13G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.545+14G>A Single submitter
c.546-12G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.546-15C>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.546-89GT[2] Single submitter
c.703+10C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.703+13C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.703+146G>A Single submitter
c.703+151C>T Single submitter
c.703+176G>A Single submitter
c.703+17G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.703+19C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.703+30C>A Single submitter
c.704-208G>C Single submitter
c.704-20C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.813+11G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.813+12G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.813+16G>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.813+17C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.813+18C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.813+19G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.813+19G>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.814-10G>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.814-16C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.814-8T>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.981+12C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.981+14C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.981+15G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.981+59G>A Single submitter
c.982-12A>G Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.982-20C>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.982-9T>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala110= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala13= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala131= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala20= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala212= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala219= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala27= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala366= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala425= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala454= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala5= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala500= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala91= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Arg113= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Arg330= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Arg522= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp104= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp292= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp346= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp414= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp502= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp84= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Cys487= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln158= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln285= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln317= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln432= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln51= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Glu489= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Glu523= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Glu533= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly17= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly302= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly356= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly357= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly36= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly36Trp Single submitter
p.Gly36Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly392= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly415= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly501= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly505= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gly8Arg Single submitter Inborn genetic diseases
p.His130= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.His185= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.His265= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.His391= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ile120= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ile167= Single submitter
p.Ile301= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu108= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu200= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu221= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu247= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu260= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu287= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu296= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu349= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu409= Single submitter
p.Leu428= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu435= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu449= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu465= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Leu512= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Lys477= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Phe135= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Phe194= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Phe312= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Phe342= Single submitter
p.Phe388= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro100= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro155= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro207= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro253= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro276= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro278= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro30= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro359= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro37= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro375= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro394= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro472= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro9= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Pro92= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser15= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser211= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser218= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser231= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser28= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser322= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser377= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser389= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser397= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser430= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser444= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser483= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser50= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser64= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser96= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr228= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr261= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr3= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr309= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr333= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr354= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr42= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr479= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr67= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr89= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Tyr180= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Tyr396= Single submitter
p.Tyr437= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Tyr486= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val213= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val220= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val233= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val24= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val273= Single submitter
p.Val286= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val417= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val55= Single submitter
p.Val83= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val95= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.*8C>T No assertion criteria DYNC2I2-related disorder
p.Ser410= No assertion criteria DYNC2I2-related disorder

Uncertain significance 245

c.1372+5del Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala131Val Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala13Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala219Thr Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala369Val Multiple submitters Inborn genetic diseases ⚠
p.Ala500Val Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala535Val Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala5Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala73Asp Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala85Thr Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg113Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg113Trp Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg202Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg202Trp Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg249Cys Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg249His Multiple submitters Inborn genetic diseases ⚠
p.Arg257Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg321Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg330Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg373Leu Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg373Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg381Trp Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg522Gln Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg522Gly Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg522Trp Multiple submitters Inborn genetic diseases ⚠
p.Gln143Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln385Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln385His Multiple submitters Inborn genetic diseases ⚠
p.Glu241Lys Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Glu277Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu334Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly14Arg Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly302Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly357Ser Multiple submitters Inborn genetic diseases
p.His185Arg Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.His416Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile105Val Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ile301Met Multiple submitters Inborn genetic diseases ⚠
p.Ile476Asn Multiple submitters Inborn genetic diseases ⚠
p.Leu296Val Multiple submitters Inborn genetic diseases ⚠
p.Leu433Val Multiple submitters Inborn genetic diseases ⚠
p.Met422Val Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Phe342Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro210Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro253Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro32Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro35Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro394Ser Multiple submitters Inborn genetic diseases
p.Pro92Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro99Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro99Leu Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser15Asn Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser211Leu Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser248Asn Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser455Pro Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser47Phe Multiple submitters Inborn genetic diseases ⚠
p.Thr338Met Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr3Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr517Met Multiple submitters Inborn genetic diseases ⚠
p.Thr67Met Multiple submitters Inborn genetic diseases ⚠
p.Thr89Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr486Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr486His Multiple submitters Inborn genetic diseases ⚠
p.Val195Met Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val213Met Multiple submitters short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val286Met Multiple submitters Inborn genetic diseases ⚠
p.Val485Ile Multiple submitters Inborn genetic diseases ⚠
p.Val97Met Multiple submitters Inborn genetic diseases ⚠
c.1214+5G>A Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.435+6G>C Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.436-3C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.546-3C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.703+4A>G Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.704-26_704-14del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.981+4C>G Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.981+4C>T Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
c.*15C>T Single submitter
p.Ala109Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala109Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala13Pro Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala159Val Single submitter ⚠
p.Ala16Thr Single submitter Inborn genetic diseases ⚠
p.Ala177Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala19Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala20Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala224Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala234Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala27Val Single submitter Inborn genetic diseases ⚠
p.Ala2Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala313Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala337Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala366Gly Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala370Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala384Pro Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala452Pro Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala452Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ala453Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala454Gly Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala454Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala46Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala499Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala524Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala535Glu Single submitter Inborn genetic diseases ⚠
p.Ala536Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala5Glu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ala5Val Single submitter Inborn genetic diseases ⚠
p.Ala75Val Single submitter ⚠
p.Arg107Gly Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg107Ser Single submitter Inborn genetic diseases ⚠
p.Arg121Gln Single submitter Inborn genetic diseases ⚠
p.Arg182Gln Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg257Gly Single submitter Inborn genetic diseases ⚠
p.Arg283Cys Single submitter Inborn genetic diseases ⚠
p.Arg34Leu Single submitter Inborn genetic diseases ⚠
p.Arg442Cys Single submitter ⚠
p.Arg442His Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg53Lys Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg53Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Asp104Asn Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Asp267Glu Single submitter Inborn genetic diseases ⚠
p.Asp414Gly Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Asp502Asn Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gln142Glu Single submitter Inborn genetic diseases ⚠
p.Gln144dup Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Gln318Glu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gln385Glu Single submitter Inborn genetic diseases ⚠
p.Gln39Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gln493Lys Single submitter Inborn genetic diseases ⚠
p.Gln494Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gln6Leu Single submitter Inborn genetic diseases ⚠
p.Gln6Pro Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Glu116Asp Single submitter Inborn genetic diseases ⚠
p.Glu116Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Glu141Lys Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Glu310Gly Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Glu355Gln Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Glu41Asp Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Glu41Gln Single submitter Inborn genetic diseases ⚠
p.Glu482Lys Single submitter Inborn genetic diseases ⚠
p.Glu525Lys Single submitter Inborn genetic diseases ⚠
p.Glu61Gly Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly17Asp Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly236Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly25Val Single submitter Inborn genetic diseases ⚠
p.Gly293Trp Single submitter DYNC2I2-related disorder ⚠
p.Gly300Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly304Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly331Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly336Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly367Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly393Asp Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly415Glu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly44Cys Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly520Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Gly8Val Single submitter Inborn genetic diseases ⚠
p.His130Tyr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.His185Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.His226Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.His391Tyr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.His404= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ile58Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Leu10Val Single submitter Inborn genetic diseases ⚠
p.Leu112Ile Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Leu191Phe Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Leu314Val Single submitter Inborn genetic diseases ⚠
p.Leu371Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Leu407Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Leu419Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Leu431Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Leu475Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Lys326Asn Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Lys471Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Lys477Asn Single submitter Inborn genetic diseases ⚠
p.Lys477Glu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Lys63Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Met145Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Met316Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Phe194Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Phe284Ser Single submitter Inborn genetic diseases ⚠
p.Phe358Val Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro155Leu Single submitter ⚠
p.Pro210Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro230Ser Single submitter Inborn genetic diseases ⚠
p.Pro359Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro35Leu Single submitter Inborn genetic diseases ⚠
p.Pro379Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro390Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro390Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro402Ser Single submitter ⚠
p.Pro49Ser Single submitter Inborn genetic diseases ⚠
p.Pro521Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro92Leu Single submitter Inborn genetic diseases ⚠
p.Pro94Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro99Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro9Gln Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Pro9Leu Single submitter Inborn genetic diseases ⚠
p.Ser15Thr Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser218Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser239Ile Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser281Asn Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser28Asn Single submitter Inborn genetic diseases ⚠
p.Ser28Gly Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser322Asn Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser389del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Ser397Pro Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser399Asn Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser399Thr Single submitter Inborn genetic diseases ⚠
p.Ser401Phe Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser401Pro Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser430Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser444fs Single submitter
p.Ser47Cys Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser483Arg Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Ser96Gly Single submitter Inborn genetic diseases ⚠
p.Thr228Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr261Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr264Ile Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr291del Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr338Ala Single submitter ⚠
p.Thr372Arg Single submitter Inborn genetic diseases ⚠
p.Thr372Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr372Ser Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr473Pro Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr514Ile Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Thr62= Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Thr72Ile Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Trp139Arg Single submitter Inborn genetic diseases ⚠
p.Trp169Arg Single submitter Inborn genetic diseases ⚠
p.Tyr396His Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val18Ile Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val214Met Single submitter Inborn genetic diseases ⚠
p.Val233Ile Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val269Ala Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val269Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val335Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val417Ala Single submitter Inborn genetic diseases ⚠
p.Val417Ile Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val441Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val446Leu Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val45Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Val460Met Single submitter Inborn genetic diseases ⚠
p.Val507Ala Single submitter short-rib thoracic dysplasia 11 with or without polydactyly
p.Val534Met Single submitter short-rib thoracic dysplasia 11 with or without polydactyly ⚠
p.Arg283His No assertion criteria inherited retinal dystrophy ⚠
p.Leu497fs No assertion criteria