Sugi Variant

Sugi Variant/DYRK1A

DYRK1A — 1146 ClinVar variants

All ClinVar germline DYRK1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 371 flagged for review →

159 Pathogenic · 22 Pathogenic/Likely pathogenic · 74 Likely pathogenic · 73 Conflicting · 75 Benign · 33 Benign/Likely benign · 349 Likely benign · 361 Uncertain significance

Full DYRK1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 371

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 1

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

Predictors agree, ClinVar conflicts 42

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

Predictors lean, ClinVar uncertain 259

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 259

Predictors split 69

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

All DYRK1A variants

Pathogenic 159

  • c.1519+1G>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.489+2T>C Multiple submitters Inborn genetic diseases
  • c.924+1G>C Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Arg108Ter Multiple submitters intellectual disability
  • p.Arg196Ter Multiple submitters Inborn genetic diseases
  • p.Arg246Ter Multiple submitters Inborn genetic diseases
  • p.Arg254Ter Multiple submitters DYRK1A-related disorder
  • p.Arg428Ter Multiple submitters Inborn genetic diseases
  • p.Arg458Ter Multiple submitters DYRK1A-related disorder
  • p.Asn142fs Multiple submitters Inborn genetic diseases
  • p.Gln111Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln304Ter Multiple submitters DYRK1A-related disorder
  • p.Gln314Ter Multiple submitters DYRK1A-related disorder
  • p.Gln378Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln460Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln63Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Glu357Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ile181fs Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Lys397fs Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Met220fs Multiple submitters DYRK1A-related disorder
  • p.Thr67fs Multiple submitters Inborn genetic diseases
  • p.Tyr150Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Tyr210Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1071_1071+8del Single submitter
  • c.1072-2A>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1072-2A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1212+1G>A Single submitter
  • c.1213-3C>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.208-8dup Single submitter DYRK1A-related intellectual disability syndrome
  • c.300+846A>G Single submitter Global developmental delay
  • c.301-1G>T Single submitter intellectual disability
  • c.301-2A>G Single submitter complex neurodevelopmental disorder
  • c.490-1G>A Single submitter
  • c.490-2A>G Single submitter
  • c.490-3T>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.637+2dup Single submitter DYRK1A-related intellectual disability syndrome
  • c.637+2T>C Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala167fs Single submitter
  • p.Ala268fs Single submitter Inborn genetic diseases
  • p.Ala379fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala430fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala489fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg108fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg170_Val171del Single submitter
  • p.Arg170fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg254fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg316His Single submitter
  • p.Arg404fs Single submitter intellectual disability
  • p.Arg449fs Single submitter
  • p.Arg71fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn283fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn356fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn482fs Single submitter
  • p.Asn595fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn99fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp137Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp153fs Single submitter
  • p.Asp278Gly Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp359fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp391fs Single submitter intellectual disability
  • p.Asp452fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp90fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Cys226_Leu227delinsTer Single submitter complex neurodevelopmental disorder
  • p.Cys226fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln112Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln114fs Single submitter
  • p.Gln163Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln192Ter Single submitter
  • p.Gln258Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln259Ter Single submitter Inborn genetic diseases
  • p.Gln307Ter Single submitter DYRK1A-related disorder
  • p.Gln311Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln360Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln492fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln51Ter Single submitter
  • p.Gln567Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln672fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln69fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln69Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln74fs Single submitter complex neurodevelopmental disorder
  • p.Glu123Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu199fs Single submitter intellectual disability
  • p.Glu207fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu322fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu387Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu421fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu577fs Single submitter
  • p.Gly159fs Single submitter
  • p.Gly162Arg Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly339Trp Single submitter
  • p.Gly424Ter Single submitter intellectual disability
  • p.Gly426fs Single submitter Inborn genetic diseases
  • p.Gly530fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.His214fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.His528fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.His545fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.His644fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu227fs Single submitter
  • p.Leu252fs Single submitter intellectual disability
  • p.Leu272fs Single submitter
  • p.Leu325fs Single submitter Inborn genetic diseases
  • p.Leu446fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu451fs Single submitter
  • p.Lys106fs Single submitter
  • p.Lys145fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys184fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys203fs Single submitter
  • p.Lys209Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys255_Phe256delinsAsn Single submitter
  • p.Lys255Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys398fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys407fs Single submitter Inborn genetic diseases
  • p.Lys413fs Single submitter Inborn genetic diseases
  • p.Lys96Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Met335fs Single submitter Inborn genetic diseases
  • p.Phe219fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Phe229fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Phe266fs Single submitter Inborn genetic diseases
  • p.Phe352fs Single submitter Inborn genetic diseases
  • p.Pro371fs Single submitter
  • p.Pro372fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro390fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro425fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro554fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ser118fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ser302Tyr Single submitter
  • p.Ser49fs Single submitter
  • p.Ser509Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ser648fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ser88fs Single submitter Inborn genetic diseases
  • p.Trp175Ter Single submitter
  • p.Trp336Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Tyr102fs Single submitter Seizure
  • p.Tyr234fs Single submitter
  • p.Tyr234Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Tyr310Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Tyr329fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Tyr329Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Tyr453fs Single submitter
  • p.Tyr95Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Val195fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Val228_Leu232delinsGlu Single submitter DYRK1A-related intellectual disability syndrome
  • p.Val367fs Single submitter
  • p.Val582fs Single submitter
  • c.1071+1G>A No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Arg149_Tyr150insTer No assertion criteria intellectual disability
  • p.Cys303Ter No assertion criteria intellectual disability
  • p.Gln307fs No assertion criteria Feeding difficulties
  • p.Gly326fs No assertion criteria intellectual disability
  • p.His415fs No assertion criteria intellectual disability
  • p.Ile275fs No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Ile459fs No assertion criteria complex neurodevelopmental disorder
  • p.Ile48fs No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Leu91fs No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Met327fs No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Pro281fs No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Ser273fs No assertion criteria Feeding difficulties
  • p.Ser651fs No assertion criteria intellectual disability
  • p.Trp336fs No assertion criteria intellectual disability

Pathogenic/Likely pathogenic 22

  • c.1072-1G>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1213-2A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1520-1G>C Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.638-1G>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.638-1G>T Multiple submitters Inborn genetic diseases
  • c.638-2A>G Multiple submitters DYRK1A-related disorder
  • c.638-9_638-5del Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.924+4_924+7del Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Arg222Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Arg458Gln Multiple submitters DYRK1A-related disorder
  • p.Arg77fs Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Asn68fs Multiple submitters DYRK1A-related disorder
  • p.Asp278Val Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln538Ter Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln585Ter Multiple submitters DYRK1A-related disorder
  • p.His276Arg Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Leu250fs Multiple submitters DYRK1A-related disorder
  • p.Leu286Phe Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Leu342fs Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Leu84fs Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Lys182fs Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser302Phe Multiple submitters DYRK1A-related intellectual disability syndrome

Likely pathogenic 74

  • p.Asp169Gly Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gly159Asp Multiple submitters Inborn genetic diseases
  • p.Leu236Arg Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Lys179del Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Phe299Ser Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser337Phe Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1072del Single submitter DYRK1A-related intellectual disability syndrome
  • c.1520-2A>G Single submitter
  • c.301-2A>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.489+1G>A Single submitter
  • c.489+2T>A Single submitter
  • c.490-1G>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.612_637+11del Single submitter DYRK1A-related disorder
  • c.637+2_637+13del Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-6T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.924+1G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.924+2T>A Single submitter
  • c.925-1G>C Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala268Pro Single submitter
  • p.Ala355fs Single submitter DYRK1A-related disorder
  • p.Arg170_Val171delinsGln Single submitter DYRK1A-related disorder
  • p.Arg412His Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp334fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Cys277Tyr Single submitter DYRK1A-related intellectual disability syndrome
  • p.Cys542Ter Single submitter complex neurodevelopmental disorder
  • p.Gln311fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln460fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln466Ter Single submitter DYRK1A-related disorder
  • p.Gln613Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu349fs Single submitter intellectual disability
  • p.Glu543Ter Single submitter DYRK1A-related disorder
  • p.Gly115Ter Single submitter
  • p.Gly159Arg Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly159Val Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly402Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ile178fs Single submitter DYRK1A-related disorder
  • p.Ile274Ser Single submitter Inborn genetic diseases
  • p.Leu198Pro Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu285Ile Single submitter
  • p.Leu351fs Single submitter DYRK1A-related disorder
  • p.Leu446Arg Single submitter
  • p.Leu448fs Single submitter DYRK1A-related disorder
  • p.Lys179Ile Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys280fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys290Glu Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys413Ter Single submitter
  • p.Met1Leu Single submitter
  • p.Phe299fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Phe299Val Single submitter DYRK1A-related intellectual disability syndrome
  • p.Phe317fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro409fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro65_Leu66insTer Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ser315Arg Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ser320fs Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ser433Ter Single submitter DYRK1A-related disorder
  • p.Ser501fs Single submitter
  • p.Thr436fs Single submitter DYRK1A-related disorder
  • p.Thr478Ile Single submitter ⚠
  • p.Thr572Ser Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Thr729fs Single submitter
  • p.Thr94fs Single submitter DYRK1A-related disorder
  • p.Trp336Gly Single submitter DYRK1A-related disorder
  • p.Trp336Leu Single submitter DYRK1A-related disorder
  • p.Tyr136Ter Single submitter DYRK1A-related intellectual disability syndrome
  • p.Tyr318Cys Single submitter DYRK1A-related intellectual disability syndrome
  • p.Tyr318fs Single submitter DYRK1A-related disorder
  • p.Tyr406Ter Single submitter
  • p.Tyr671Ter Single submitter
  • p.Val437fs Single submitter DYRK1A-related intellectual disability syndrome
  • c.1072-2A>T No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Arg70fs No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Glu405Ter No assertion criteria DYRK1A-related intellectual disability syndrome
  • p.Ile296Arg No assertion criteria intellectual disability
  • p.Ser337Pro No assertion criteria Feeding difficulties

Conflicting classifications of pathogenicity 73

  • c.10+6T>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.11-15C>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1520-5T>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.208-28G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.300+3A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.300+7C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-14_638-13del Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-3C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.925-11A>G Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala268Val Single submitter Inborn genetic diseases ⚠
  • p.Ala332Ser Single submitter Male infertility with spermatogenesis disorder ⚠
  • p.Ala588Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg124Gln Single submitter Male infertility with spermatogenesis disorder
  • p.Arg16Gln Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Arg170His Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Arg217Cys Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg319Trp Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Arg404Trp Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg412Cys Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Arg519Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg550His Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Arg674Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg700His Single submitter Inborn genetic diseases ⚠
  • p.Asn128Ser Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Asn142= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn283Asp Single submitter DYRK1A-related disorder ⚠
  • p.Asn625Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn698Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp334Gly Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Asp682Glu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Gln163Arg Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Gln52Glu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Gln548Glu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Gln666His Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Glu322Lys Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Gly339Arg Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Gly477Asp Single submitter DYRK1A-related disorder ⚠
  • p.His214Arg Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.His591Arg Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.His593Leu Single submitter Inborn genetic diseases ⚠
  • p.His607Asp Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.His608Leu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Ile274Val Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Ile447Val Single submitter Inborn genetic diseases ⚠
  • p.Leu265Pro Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Lys255Thr Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Met30Leu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Met30Val Single submitter Inborn genetic diseases ⚠
  • p.Met637Val Single submitter neurodevelopmental disorder ⚠
  • p.Met730Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe386Leu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Pro281Arg Single submitter DYRK1A-related disorder ⚠
  • p.Pro522Leu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Pro522Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro584Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro740Leu Single submitter Inborn genetic diseases
  • p.Ser41Asn Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Ser503= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ser510Leu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Ser520Leu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Ser597Tyr Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Thr436Met Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Thr502= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Thr569Ala Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Thr628Met Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Thr7Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr440= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Tyr58Cys Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Tyr696Cys Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Val537Met Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Val549Met Single submitter Inborn genetic diseases ⚠
  • p.Val676= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Val695= Single submitter DYRK1A-related intellectual disability syndrome

Benign 75

Benign/Likely benign 33

  • c.1071+15G>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1644+64T>G Multiple submitters
  • c.1644+73C>A Multiple submitters
  • c.208-34A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.208-40C>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.208-41del Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.489+9A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.925-19A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.-16G>A Multiple submitters
  • p.Ala268= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ala670Pro Multiple submitters Inborn genetic diseases
  • p.Arg319= Multiple submitters
  • p.Arg43Cys Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Arg550Cys Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Arg618Gln Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Arg618Trp Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Asn416Thr Multiple submitters Inborn genetic diseases
  • p.Asp78= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Leu338= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Lys209= Multiple submitters Inborn genetic diseases
  • p.Met730Leu Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Met730Val Multiple submitters Inborn genetic diseases
  • p.Ser273Asn Multiple submitters Inborn genetic diseases
  • p.Ser513= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Thr347Ala Multiple submitters Inborn genetic diseases
  • p.Thr544Ala Multiple submitters Inborn genetic diseases
  • p.Thr579Pro Multiple submitters Inborn genetic diseases
  • p.Thr742Ser Multiple submitters Inborn genetic diseases
  • p.Val15Ile Multiple submitters Inborn genetic diseases
  • p.Val164= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Val639Ile Multiple submitters Inborn genetic diseases
  • p.Val691Ile Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Val695Ala Multiple submitters Inborn genetic diseases

Likely benign 349

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

  • c.10+9A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.11-7C>T Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1213-3C>T Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1519+17T>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1520-74A>T Multiple submitters
  • c.1520-9A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1644+13G>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1644+18T>C Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1644+86C>T Multiple submitters
  • c.1644+9G>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.1645-12C>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.208-38_208-35del Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.208-38G>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.300+22_300+24del Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.301-17A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.301-8C>T Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.489+12G>A Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.490-8T>C Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.637+16A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.637+8_637+11del Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.638-9del Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.924+7A>G Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.924+80C>T Multiple submitters
  • c.925-48C>T Multiple submitters
  • p.Ala257= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ala518= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ala536= Multiple submitters Inborn genetic diseases
  • p.Ala715= Multiple submitters Inborn genetic diseases
  • p.Asp116= Multiple submitters Inborn genetic diseases
  • p.Asp133= Multiple submitters Inborn genetic diseases
  • p.Asp377= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Cys542= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln111= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln259= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln460= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln52= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln64= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gln712= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Glu174= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Gly423= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.His224= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.His545= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.His600= Multiple submitters Inborn genetic diseases
  • p.His606= Multiple submitters Inborn genetic diseases
  • p.His609_His610dup Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ile364= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ile447= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Leu265= Multiple submitters
  • p.Leu279= Multiple submitters Inborn genetic diseases
  • p.Leu325= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Leu589= Multiple submitters Inborn genetic diseases
  • p.Lys121= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Phe385= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Phe683= Multiple submitters Inborn genetic diseases
  • p.Pro455= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Pro740= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser22= Multiple submitters Inborn genetic diseases
  • p.Ser273= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser487= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser496= Multiple submitters Inborn genetic diseases
  • p.Ser505= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser510= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser57Pro Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser631= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser657= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Ser754Leu Multiple submitters Inborn genetic diseases
  • p.Thr393Ser Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Thr436= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Thr473= Multiple submitters Inborn genetic diseases
  • p.Thr523Met Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Thr562Ser Multiple submitters Inborn genetic diseases
  • p.Thr647= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Thr694= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Tyr150= Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Tyr624Phe Multiple submitters Inborn genetic diseases
  • p.Val420= Multiple submitters Inborn genetic diseases
  • p.Val437= Multiple submitters Inborn genetic diseases
  • p.Val695Ile Multiple submitters DYRK1A-related intellectual disability syndrome
  • p.Val89= Multiple submitters DYRK1A-related intellectual disability syndrome
  • c.10+10G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.10+18A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1071+14T>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.1071+9T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1072-13A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1072-16T>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1072-19_1072-17del Single submitter
  • c.11-11T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.11-12A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.11-14_11-13del Single submitter
  • c.11-16394C>T Single submitter
  • c.11-17C>T Single submitter
  • c.11-20C>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.11-4G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.11-9T>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1212+19del Single submitter DYRK1A-related intellectual disability syndrome
  • c.1212+7T>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1212+9del Single submitter DYRK1A-related intellectual disability syndrome
  • c.1213-10T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1213-21_1213-17del Single submitter DYRK1A-related intellectual disability syndrome
  • c.1213-22C>G Single submitter
  • c.1213-9C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.1519+12T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1519+14_1519+20dup Single submitter
  • c.1519+14C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.1519+15G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.1520-11T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1520-12G>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1520-13T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1520-17G>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.1644+101A>G Single submitter
  • c.1644+11A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1644+12C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.1644+14T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1644+15G>A Single submitter
  • c.1644+17T>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.1644+87G>A Single submitter
  • c.1644+8C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.1644+9G>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.1645-10G>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.1645-19T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1645-4T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1645-5T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.1645-7C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.207+273_207+277del Single submitter
  • c.207+292A>G Single submitter
  • c.207+7T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.207+8C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.208-201C>G Single submitter
  • c.208-30A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.208-33T>C Single submitter
  • c.208-34A>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.300+15G>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.300+18A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.300+19T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.300+233A>C Single submitter
  • c.300+5G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.301-11T>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.301-13A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.301-18T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.301-6T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.301-9T>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.489+18G>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.489+22A>G Single submitter
  • c.489+4A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.490-10_490-8del Single submitter DYRK1A-related intellectual disability syndrome
  • c.490-111del Single submitter
  • c.490-13T>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.490-13T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.490-16_490-13del Single submitter DYRK1A-related intellectual disability syndrome
  • c.490-18A>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.490-9_490-5del Single submitter DYRK1A-related intellectual disability syndrome
  • c.637+10C>A Single submitter
  • c.637+10C>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.637+12G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.637+19A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.637+20G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.637+4A>T Single submitter intellectual disability
  • c.637+8A>C Single submitter
  • c.638-100T>C Single submitter
  • c.638-11_638-10del Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-11T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-13T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-14G>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-15T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-16C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-20_638-16del Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-8T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.638-8T>G Single submitter
  • c.638-9C>T Single submitter
  • c.924+12T>A Single submitter DYRK1A-related intellectual disability syndrome
  • c.924+14C>T Single submitter DYRK1A-related intellectual disability syndrome
  • c.925-17T>C Single submitter DYRK1A-related intellectual disability syndrome
  • c.925-9A>G Single submitter DYRK1A-related intellectual disability syndrome
  • c.-37C>T Single submitter
  • c.-76-12T>C Single submitter
  • c.-76-1479G>A Single submitter
  • c.-76-1713A>G Single submitter
  • c.-76-211dup Single submitter
  • c.*4006A>G Single submitter
  • p.Ala18= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala26= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala263= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala263Ser Single submitter Inborn genetic diseases
  • p.Ala430= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala489= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala539= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala555= Single submitter
  • p.Ala564= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala588= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala588Val Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala614= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala677= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ala706= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg109= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg170Cys Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg217= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg254= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg43= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg44His Single submitter Inborn genetic diseases
  • p.Arg622= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg674= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg674His Single submitter DYRK1A-related intellectual disability syndrome
  • p.Arg71Leu Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Arg85Ile Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn135= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn244= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn514= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn665= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn673= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asn716= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp205= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp330= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp330Tyr Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp541= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp60= Single submitter
  • p.Asp690= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp735= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp735Val Single submitter DYRK1A-related intellectual disability syndrome
  • p.Asp90= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln258= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln311= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln525= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln551= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln552= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln585= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln701= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gln747= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu405= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu571Gly Single submitter DYRK1A-related intellectual disability syndrome
  • p.Glu702= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly157= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly32= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly339= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly354= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly477= Single submitter
  • p.Gly511= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly516= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly530Ser Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly531= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly594= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly611= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Gly718Val Single submitter
  • p.His110= Single submitter DYRK1A-related intellectual disability syndrome
  • p.His467= Single submitter
  • p.His590= Single submitter DYRK1A-related intellectual disability syndrome
  • p.His592Tyr Single submitter DYRK1A-related intellectual disability syndrome
  • p.His593= Single submitter DYRK1A-related intellectual disability syndrome
  • p.His598= Single submitter DYRK1A-related intellectual disability syndrome
  • p.His600Tyr Single submitter ⚠
  • p.His605= Single submitter DYRK1A-related intellectual disability syndrome
  • p.His605_His610del Single submitter DYRK1A-related intellectual disability syndrome
  • p.His608_His610del Single submitter DYRK1A-related intellectual disability syndrome
  • p.His609= Single submitter DYRK1A-related intellectual disability syndrome
  • p.His609_His610del Single submitter DYRK1A-related intellectual disability syndrome
  • p.His610= Single submitter DYRK1A-related intellectual disability syndrome
  • p.His610del Single submitter DYRK1A-related intellectual disability syndrome
  • p.His644= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ile156= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ile180= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ile284= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Ile417Ser Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu200= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu232= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu236= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu239= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu252= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu264= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu272= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu285= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu342= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu396= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu446= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu451= Single submitter
  • p.Leu56= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu615= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu649= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu66= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu693= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Leu84Val Single submitter Inborn genetic diseases ⚠
  • p.Lys107= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys384= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys444Arg Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Lys472= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys86= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Lys96= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Phe245= Single submitter Inborn genetic diseases
  • p.Pro19= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro321= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro328= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro372Leu Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro408= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro409= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro455Ala Single submitter DYRK1A-related intellectual disability syndrome ⚠
  • p.Pro46= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro488= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro522= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro547Ser Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro699= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro73= Single submitter DYRK1A-related intellectual disability syndrome
  • p.Pro79= Single submitter DYRK1A-related intellectual disability syndrome

Uncertain significance 361

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