FKBP14 — 280 ClinVar variants
All ClinVar germline FKBP14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
11 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 7 Conflicting · 8 Benign · 8 Benign/Likely benign · 100 Likely benign · 136 Uncertain significance
Full FKBP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FKBP14 p.Ala173Val
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FKBP14 p.Arg135Gln
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Arg2Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Asp181Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Asp194Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Asp46Gly
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Asp46Tyr
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Glu99Gln
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Gly197Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Gly60Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Gly72Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.His171Pro
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.His179Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.His69Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Ile105Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Ile119Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Ile18Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Ile37Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Ile75Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Leu103Phe
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Leu17Ser
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Leu211Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Lys207Gln
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Lys58Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Lys86Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Pro35Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Ser156Tyr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Thr11Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Thr11Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Trp6Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Tyr52Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Val14Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Val160Ile
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Val9Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Ala201Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ala84Thr
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Arg40His
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Asn136Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Asn150Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Asn176Ser
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Asn71Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Asn7Lys
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Asp186Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Asp194Glu
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- FKBP14 p.Asp46Val Uncertain significance Single submitter
-
FKBP14 p.Gln33His
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Gln73Leu
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Glu114Lys
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Glu122Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Glu142Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Glu185Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Glu99Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
- FKBP14 p.Glu99Gly Uncertain significance Single submitter
-
FKBP14 p.Gly110Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Gly172Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
- FKBP14 p.Gly197Ala Uncertain significance Single submitter
-
FKBP14 p.Gly44Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- FKBP14 p.Gly45Arg Uncertain significance Single submitter
-
FKBP14 p.Gly45Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Gly45Trp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Gly54Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Gly87Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.His171Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.His171Tyr
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.His39Arg
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- FKBP14 p.Ile126Val Uncertain significance Single submitter
-
FKBP14 p.Ile129Val
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Ile187Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ile18Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ile18Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ile18Val
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Ile199Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ile199Val
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Ile22Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ile75Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Leu10Phe
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Leu149Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Leu149Val
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Leu21Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
- FKBP14 p.Leu92Trp Uncertain significance Single submitter
-
FKBP14 p.Lys102Arg
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Lys118Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Lys190Gln
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Lys68Arg
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Met48Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ser140Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ser16Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ser178Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Ser65Phe
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Trp6Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Trp6Cys
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Trp88Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Tyr55Cys
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- FKBP14 p.Val14Ala Uncertain significance Single submitter
-
FKBP14 p.Val174Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Val175Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
Predictors split 21
The independent predictors disagree with each other — read with care.
-
FKBP14 p.Glu191Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Glu83Lys
Uncertain significance
Multiple submitters
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Ile129Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Ile187Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Pro25Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Thr78Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Val27Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
FKBP14 p.Asp152Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Asp209Gly
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Gln145Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Glu167Lys
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Glu191Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
- FKBP14 p.Glu83Asp Uncertain significance Single submitter
- FKBP14 p.Gly137Ala Uncertain significance Single submitter
-
FKBP14 p.His208Tyr
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Ile29Met
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- FKBP14 p.Ile29Thr Uncertain significance Single submitter
-
FKBP14 p.Leu49Phe
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Lys157Asn
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
-
FKBP14 p.Thr42Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
FKBP14 p.Tyr163His
Uncertain significance
Single submitter
Cardiovascular phenotype
All FKBP14 variants
Pathogenic 11
- p.Glu122Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.His69fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Leu12fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Leu32fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Phe13fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ser61fs Single submitter Cardiovascular phenotype
- p.Ter212Tyr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Trp88Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Tyr52Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Glu191del No assertion criteria Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Val14_Thr15insTer No assertion criteria Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Pathogenic/Likely pathogenic 3
- p.Glu122fs Multiple submitters FKBP14-related disorders
- p.Leu12fs Multiple submitters Cardiovascular phenotype
- p.Ser143Ter Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Likely pathogenic 7
- c.197+1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.197+5_197+8del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.349+1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Asn176fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.His69fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ile18fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Val175fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Conflicting classifications of pathogenicity 7
- c.350-5G>A Single submitter Cardiovascular phenotype
- c.477+1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ala173Val Single submitter Cardiovascular phenotype ⚠
- p.Leu155_Ser156insTer Single submitter Cardiovascular phenotype
- p.Lys166del Single submitter Cardiovascular phenotype
- p.Lys190del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Val175= Single submitter Cardiovascular phenotype
Benign 8
- p.Tyr55= Multiple submitters Cardiovascular phenotype
- c.197+23T>C Single submitter
- c.198-125T>C Single submitter
- c.198-250_198-249insTTAA Single submitter
- c.349+79T>C Single submitter
- c.478-115G>T Single submitter
- c.-508T>C Single submitter
- c.*672C>T Single submitter
Benign/Likely benign 8
- c.349+15G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.349+16T>G Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Gly110= Multiple submitters Cardiovascular phenotype
- p.Leu12Val Multiple submitters Cardiovascular phenotype
- p.Leu17del Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Leu82= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Lys165= Multiple submitters Cardiovascular phenotype
- p.Lys41= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Likely benign 100
- c.197+16C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.350-8C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ala162= Multiple submitters Cardiovascular phenotype
- p.Ala162= Multiple submitters Cardiovascular phenotype
- p.Ala173= Multiple submitters Cardiovascular phenotype
- p.Ala8= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Asp192= Multiple submitters Cardiovascular phenotype
- p.Asp194= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Cys38= Multiple submitters Cardiovascular phenotype
- p.Glu142= Multiple submitters Cardiovascular phenotype
- p.Gly117= Multiple submitters Cardiovascular phenotype
- p.Gly19= Multiple submitters Cardiovascular phenotype
- p.Ile187= Multiple submitters Cardiovascular phenotype
- p.Ile22= Multiple submitters Cardiovascular phenotype
- p.Leu12= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Leu131= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Leu62= Multiple submitters Cardiovascular phenotype
- p.Lys102= Multiple submitters Cardiovascular phenotype
- p.Lys58= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Phe13= Multiple submitters Cardiovascular phenotype
- p.Pro35= Multiple submitters Cardiovascular phenotype
- p.Ser156= Multiple submitters Cardiovascular phenotype
- p.Tyr111= Multiple submitters Cardiovascular phenotype
- c.197+6dup Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.198-16T>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.198-19T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.198-324T>C Single submitter
- c.198-4A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.198-8T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.349+10T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.349+10T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.349+11T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.349+18T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.349+7G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.350-13T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.350-17T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.350-18C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.350-275A>G Single submitter
- c.350-6C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.350-7A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.350-8C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.477+11C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.477+14C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.477+15_477+17del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.477+20A>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.477+20A>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.477+7T>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.477+8T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.478-14C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.478-18G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.478-19G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.478-20T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.478-290C>T Single submitter
- c.478-34A>G Single submitter
- c.-22C>T Single submitter
- c.-597A>G Single submitter
- c.*2G>C Single submitter
- p.Ala182Thr Single submitter Cardiovascular phenotype
- p.Ala182Val Single submitter Cardiovascular phenotype
- p.Asn136= Single submitter Cardiovascular phenotype
- p.Asn70= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Asp186= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Asp59= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Asp89= Single submitter Cardiovascular phenotype
- p.Gln33= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Gln90= Single submitter Cardiovascular phenotype
- p.Glu185= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Glu210= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Glu24= Single submitter Cardiovascular phenotype
- p.Glu99= Single submitter Cardiovascular phenotype
- p.Gly197= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Gly60= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.His141= Single submitter
- p.His208= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.His51= Single submitter Cardiovascular phenotype
- p.Ile18= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ile18Ser Single submitter Cardiovascular phenotype
- p.Ile37= Single submitter Cardiovascular phenotype
- p.Leu10= Single submitter Cardiovascular phenotype
- p.Leu109= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Leu125= Single submitter Cardiovascular phenotype
- p.Leu149= Single submitter Cardiovascular phenotype
- p.Leu21= Single submitter Cardiovascular phenotype
- p.Leu32= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Leu47= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Lys190= Single submitter Cardiovascular phenotype
- p.Lys28= Single submitter Cardiovascular phenotype
- p.Lys68= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Phe13Leu Single submitter Cardiovascular phenotype
- p.Phe144= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Pro107= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Pro23= Single submitter Cardiovascular phenotype
- p.Pro25= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Pro74= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ser143= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ser65= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Thr11= Single submitter Cardiovascular phenotype
- p.Thr205= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Val14= Single submitter Cardiovascular phenotype
- p.Val31= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Uncertain significance 136
- c.198-3T>C Multiple submitters Cardiovascular phenotype
- p.Arg135Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Arg2Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asp181Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Asp194Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Asp46Gly Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Asp46Tyr Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Asp89Asn Multiple submitters Cardiovascular phenotype
- p.Glu191Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Glu83Lys Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Glu99Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Gly197Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gly60Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Gly72Asp Multiple submitters Cardiovascular phenotype ⚠
- p.His171Pro Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.His179Gln Multiple submitters Cardiovascular phenotype ⚠
- p.His69Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Ile105Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile119Met Multiple submitters Cardiovascular phenotype ⚠
- p.Ile129Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile187Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Ile18Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile37Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Ile75Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Leu103Phe Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Leu17Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Leu211Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Leu82Pro Multiple submitters Cardiovascular phenotype
- p.Lys207Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Lys58Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Lys86Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Pro25Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Pro35Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ser156Tyr Multiple submitters Cardiovascular phenotype ⚠
- p.Thr11Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Thr11Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Thr78Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Trp6Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Tyr52Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Val14Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Val160Ile Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Val27Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Val31Ala Multiple submitters Cardiovascular phenotype
- p.Val9Ile Multiple submitters Cardiovascular phenotype ⚠
- c.349+6A>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.478-1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- c.*3A>G Single submitter
- p.Ala201Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala84Thr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Arg40His Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Asn136Ser Single submitter Cardiovascular phenotype ⚠
- p.Asn150Asp Single submitter Cardiovascular phenotype ⚠
- p.Asn176Ser Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Asn71Ser Single submitter Cardiovascular phenotype ⚠
- p.Asn7Lys Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Asp152Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp186Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp186Gly Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Asp186Tyr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Asp194Glu Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Asp209Gly Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Asp46Val Single submitter ⚠
- p.Gln145Pro Single submitter Cardiovascular phenotype ⚠
- p.Gln33His Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Gln73Leu Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Glu114Lys Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Glu122Gly Single submitter Cardiovascular phenotype ⚠
- p.Glu142Gln Single submitter Cardiovascular phenotype ⚠
- p.Glu167Lys Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Glu185Gly Single submitter Cardiovascular phenotype ⚠
- p.Glu191Gln Single submitter Cardiovascular phenotype ⚠
- p.Glu83Asp Single submitter ⚠
- p.Glu99Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu99Gly Single submitter ⚠
- p.Gly110Val Single submitter Cardiovascular phenotype ⚠
- p.Gly117Asp Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Gly117Ser Single submitter Ehlers-Danlos syndrome
- p.Gly137Ala Single submitter ⚠
- p.Gly172Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly197Ala Single submitter ⚠
- p.Gly44Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly45Arg Single submitter ⚠
- p.Gly45Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly45Trp Single submitter Cardiovascular phenotype ⚠
- p.Gly54Ala Single submitter
- p.Gly54Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly87Ser Single submitter Cardiovascular phenotype ⚠
- p.His171Arg Single submitter Cardiovascular phenotype ⚠
- p.His171Tyr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.His180del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.His180Pro Single submitter
- p.His208Tyr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.His39Arg Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Ile126Val Single submitter ⚠
- p.Ile129Val Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Ile187Val Single submitter Cardiovascular phenotype ⚠
- p.Ile18Asn Single submitter Cardiovascular phenotype ⚠
- p.Ile18Phe Single submitter Cardiovascular phenotype ⚠
- p.Ile18Val Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Ile199Leu Single submitter Cardiovascular phenotype ⚠
- p.Ile199Val Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Ile22Phe Single submitter Cardiovascular phenotype ⚠
- p.Ile29Met Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Ile29Thr Single submitter ⚠
- p.Ile75Val Single submitter Cardiovascular phenotype ⚠
- p.Leu10Phe Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Leu149Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu149Val Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Leu21Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu49Phe Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Leu92Trp Single submitter ⚠
- p.Lys102Arg Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Lys118Asn Single submitter Cardiovascular phenotype ⚠
- p.Lys157Asn Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Lys190Gln Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Lys190Ter Single submitter
- p.Lys68Arg Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Met48Ile Single submitter Cardiovascular phenotype ⚠
- p.Pro120Leu Single submitter Cardiovascular phenotype
- p.Ser140Tyr Single submitter Cardiovascular phenotype ⚠
- p.Ser156_Lys157delinsTer Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ser16Cys Single submitter Cardiovascular phenotype ⚠
- p.Ser178Thr Single submitter Cardiovascular phenotype ⚠
- p.Ser61Phe Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Ser65Phe Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Ter212GluextTer? Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- p.Thr42Ile Single submitter Cardiovascular phenotype ⚠
- p.Trp6Arg Single submitter Cardiovascular phenotype ⚠
- p.Trp6Cys Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Trp88Ser Single submitter Cardiovascular phenotype ⚠
- p.Tyr163His Single submitter Cardiovascular phenotype ⚠
- p.Tyr55Cys Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ⚠
- p.Val14Ala Single submitter ⚠
- p.Val174Leu Single submitter Cardiovascular phenotype ⚠
- p.Val175Glu Single submitter Cardiovascular phenotype ⚠
- p.Asn70fs No assertion criteria