DRP2 — 536 ClinVar variants
All ClinVar germline DRP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 282 flagged for review →
14 Pathogenic · 4 Likely pathogenic · 12 Conflicting · 44 Benign · 4 Benign/Likely benign · 164 Likely benign · 294 Uncertain significance
Full DRP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 282
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- DRP2 p.Ala95Thr Conflicting Single submitter
- DRP2 p.Arg228Gln Conflicting Single submitter
-
DRP2 p.Arg32Gln
Conflicting
Single submitter
Charcot-Marie-Tooth disease
- DRP2 p.Met711Thr Conflicting Single submitter
- DRP2 p.Phe282Leu Conflicting Single submitter
- DRP2 p.Thr216Ala Conflicting Single submitter
Predictors lean, ClinVar uncertain 175
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 175
- DRP2 p.Ala205Val Uncertain significance Multiple submitters
- DRP2 p.Ala643Thr Uncertain significance Multiple submitters
- DRP2 p.Arg224His Uncertain significance Multiple submitters
- DRP2 p.Arg597Trp Uncertain significance Multiple submitters
- DRP2 p.Arg765Gln Uncertain significance Multiple submitters
- DRP2 p.Arg848His Uncertain significance Multiple submitters
- DRP2 p.Asn431Ser Uncertain significance Multiple submitters
- DRP2 p.Asp52Asn Uncertain significance Multiple submitters
- DRP2 p.Cys58Tyr Uncertain significance Multiple submitters
- DRP2 p.Gly66Arg Uncertain significance Multiple submitters
- DRP2 p.Gly690Ser Uncertain significance Multiple submitters
- DRP2 p.Gly907Arg Uncertain significance Multiple submitters
- DRP2 p.His902Arg Uncertain significance Multiple submitters
- DRP2 p.Ile429Leu Uncertain significance Multiple submitters
- DRP2 p.Ile855Phe Uncertain significance Multiple submitters
- DRP2 p.Leu59Arg Uncertain significance Multiple submitters
- DRP2 p.Lys88Arg Uncertain significance Multiple submitters
- DRP2 p.Met474Ile Uncertain significance Multiple submitters
- DRP2 p.Met711Val Uncertain significance Multiple submitters
- DRP2 p.Pro10Leu Uncertain significance Multiple submitters
- DRP2 p.Pro36Leu Uncertain significance Multiple submitters
- DRP2 p.Pro47Thr Uncertain significance Multiple submitters
- DRP2 p.Pro50Ala Uncertain significance Multiple submitters
- DRP2 p.Pro57Thr Uncertain significance Multiple submitters
- DRP2 p.Pro73Ala Uncertain significance Multiple submitters
- DRP2 p.Pro73Thr Uncertain significance Multiple submitters
- DRP2 p.Ser185Asn Uncertain significance Multiple submitters
- DRP2 p.Thr452Ile Uncertain significance Multiple submitters
- DRP2 p.Val328Ile Uncertain significance Multiple submitters
- DRP2 p.Ala205Glu Uncertain significance Single submitter
- DRP2 p.Ala21Glu Uncertain significance Single submitter
- DRP2 p.Ala274Gly Uncertain significance Single submitter
- DRP2 p.Ala300Thr Uncertain significance Single submitter
- DRP2 p.Ala361Glu Uncertain significance Single submitter
- DRP2 p.Ala437Ser Uncertain significance Single submitter
- DRP2 p.Ala453Thr Uncertain significance Single submitter
- DRP2 p.Ala593Thr Uncertain significance Single submitter
- DRP2 p.Ala715Thr Uncertain significance Single submitter
- DRP2 p.Ala768Gly Uncertain significance Single submitter
- DRP2 p.Ala820Ser Uncertain significance Single submitter
- DRP2 p.Ala837Asp Uncertain significance Single submitter
- DRP2 p.Ala887Pro Uncertain significance Single submitter
- DRP2 p.Ala892Thr Uncertain significance Single submitter
- DRP2 p.Ala915Val Uncertain significance Single submitter
- DRP2 p.Ala99Gly Uncertain significance Single submitter
- DRP2 p.Ala99Pro Uncertain significance Single submitter
- DRP2 p.Arg193Gln Uncertain significance Single submitter
- DRP2 p.Arg218Cys Uncertain significance Single submitter
- DRP2 p.Arg228Trp Uncertain significance Single submitter
- DRP2 p.Arg404His Uncertain significance Single submitter
- DRP2 p.Arg410His Uncertain significance Single submitter
- DRP2 p.Arg417His Uncertain significance Single submitter
- DRP2 p.Arg41Lys Uncertain significance Single submitter
- DRP2 p.Arg462Gly Uncertain significance Single submitter
- DRP2 p.Arg487Cys Uncertain significance Single submitter
- DRP2 p.Arg487His Uncertain significance Single submitter
- DRP2 p.Arg565His Uncertain significance Single submitter
- DRP2 p.Arg597Gln Uncertain significance Single submitter
- DRP2 p.Arg622Gly Uncertain significance Single submitter
- DRP2 p.Arg624Trp Uncertain significance Single submitter
- DRP2 p.Arg678Cys Uncertain significance Single submitter
- DRP2 p.Arg757Gln Uncertain significance Single submitter
- DRP2 p.Arg804Thr Uncertain significance Single submitter
- DRP2 p.Arg831Gly Uncertain significance Single submitter
- DRP2 p.Arg831Leu Uncertain significance Single submitter
- DRP2 p.Arg848Leu Uncertain significance Single submitter
- DRP2 p.Arg904Gln Uncertain significance Single submitter
- DRP2 p.Arg904Gly Uncertain significance Single submitter
- DRP2 p.Arg938His Uncertain significance Single submitter
- DRP2 p.Arg945Gln Uncertain significance Single submitter
- DRP2 p.Arg94Cys Uncertain significance Single submitter
- DRP2 p.Arg94His Uncertain significance Single submitter
- DRP2 p.Arg96His Uncertain significance Single submitter
- DRP2 p.Asn196Lys Uncertain significance Single submitter
- DRP2 p.Asn477Ser Uncertain significance Single submitter
- DRP2 p.Asn481Tyr Uncertain significance Single submitter
- DRP2 p.Asn583His Uncertain significance Single submitter
- DRP2 p.Asp18Val Uncertain significance Single submitter
- DRP2 p.Asp337Val Uncertain significance Single submitter
- DRP2 p.Asp434Glu Uncertain significance Single submitter
- DRP2 p.Asp484Gly Uncertain significance Single submitter
- DRP2 p.Asp821Asn Uncertain significance Single submitter
- DRP2 p.Asp917Asn Uncertain significance Single submitter
- DRP2 p.Cys9Tyr Uncertain significance Single submitter
- DRP2 p.Gln112Arg Uncertain significance Single submitter
- DRP2 p.Gln436Arg Uncertain significance Single submitter
- DRP2 p.Gln896Arg Uncertain significance Single submitter
- DRP2 p.Glu270Asp Uncertain significance Single submitter
- DRP2 p.Glu439Asp Uncertain significance Single submitter
- DRP2 p.Glu557Lys Uncertain significance Single submitter
- DRP2 p.Glu722Gln Uncertain significance Single submitter
- DRP2 p.Glu75Lys Uncertain significance Single submitter
- DRP2 p.Glu766Val Uncertain significance Single submitter
- DRP2 p.Glu825Lys Uncertain significance Single submitter
- DRP2 p.Glu857Lys Uncertain significance Single submitter
- DRP2 p.Glu880Lys Uncertain significance Single submitter
- DRP2 p.Glu905Lys Uncertain significance Single submitter
- DRP2 p.Glu914Lys Uncertain significance Single submitter
- DRP2 p.Gly252Arg Uncertain significance Single submitter
- DRP2 p.Gly288Glu Uncertain significance Single submitter
- DRP2 p.Gly489Arg Uncertain significance Single submitter
- DRP2 p.Gly505Ser Uncertain significance Single submitter
- DRP2 p.Gly72Arg Uncertain significance Single submitter
- DRP2 p.Gly883Asp Uncertain significance Single submitter
- DRP2 p.Gly920Glu Uncertain significance Single submitter
- DRP2 p.His173Asn Uncertain significance Single submitter
- DRP2 p.His433Arg Uncertain significance Single submitter
- DRP2 p.His606Leu Uncertain significance Single submitter
- DRP2 p.His650Gln Uncertain significance Single submitter
-
DRP2 p.His758Gln
Uncertain significance
Single submitter
DRP2-related disorder
- DRP2 p.Ile226Val Uncertain significance Single submitter
- DRP2 p.Ile600Asn Uncertain significance Single submitter
- DRP2 p.Ile653Val Uncertain significance Single submitter
- DRP2 p.Ile86Arg Uncertain significance Single submitter
- DRP2 p.Leu125Phe Uncertain significance Single submitter
- DRP2 p.Leu13Pro Uncertain significance Single submitter
- DRP2 p.Leu211Pro Uncertain significance Single submitter
- DRP2 p.Leu503Phe Uncertain significance Single submitter
- DRP2 p.Leu515Val Uncertain significance Single submitter
- DRP2 p.Leu545Met Uncertain significance Single submitter
- DRP2 p.Leu595Val Uncertain significance Single submitter
- DRP2 p.Leu59Val Uncertain significance Single submitter
- DRP2 p.Leu835Phe Uncertain significance Single submitter
- DRP2 p.Leu954Arg Uncertain significance Single submitter
- DRP2 p.Leu97Pro Uncertain significance Single submitter
- DRP2 p.Lys186Glu Uncertain significance Single submitter
- DRP2 p.Lys333Thr Uncertain significance Single submitter
- DRP2 p.Lys399Met Uncertain significance Single submitter
- DRP2 p.Lys414Thr Uncertain significance Single submitter
- DRP2 p.Lys782Glu Uncertain significance Single submitter
- DRP2 p.Lys787Arg Uncertain significance Single submitter
-
DRP2 p.Met149Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease
- DRP2 p.Met149Val Uncertain significance Single submitter
- DRP2 p.Met240Val Uncertain significance Single submitter
- DRP2 p.Met285Thr Uncertain significance Single submitter
- DRP2 p.Met4Ile Uncertain significance Single submitter
- DRP2 p.Met4Val Uncertain significance Single submitter
- DRP2 p.Met654Val Uncertain significance Single submitter
- DRP2 p.Phe148Leu Uncertain significance Single submitter
- DRP2 p.Phe25Ser Uncertain significance Single submitter
- DRP2 p.Phe278Leu Uncertain significance Single submitter
- DRP2 p.Phe496Leu Uncertain significance Single submitter
- DRP2 p.Pro181Thr Uncertain significance Single submitter
- DRP2 p.Pro190Leu Uncertain significance Single submitter
- DRP2 p.Pro364His Uncertain significance Single submitter
- DRP2 p.Pro36Thr Uncertain significance Single submitter
- DRP2 p.Pro47Ala Uncertain significance Single submitter
- DRP2 p.Pro542Arg Uncertain significance Single submitter
- DRP2 p.Pro558Leu Uncertain significance Single submitter
- DRP2 p.Pro57Leu Uncertain significance Single submitter
Predictors split 101
The independent predictors disagree with each other — read with care.
- DRP2 p.Arg199His Uncertain significance Multiple submitters
- DRP2 p.Arg224Cys Uncertain significance Multiple submitters
- DRP2 p.Arg340Trp Uncertain significance Multiple submitters
- DRP2 p.Arg457Cys Uncertain significance Multiple submitters
- DRP2 p.Arg543His Uncertain significance Multiple submitters
- DRP2 p.Arg561His Uncertain significance Multiple submitters
- DRP2 p.Arg565Cys Uncertain significance Multiple submitters
- DRP2 p.Arg938Cys Uncertain significance Multiple submitters
- DRP2 p.Asn467Ser Uncertain significance Multiple submitters
- DRP2 p.Asn630Ser Uncertain significance Multiple submitters
- DRP2 p.Asn665Ser Uncertain significance Multiple submitters
- DRP2 p.Asp102Gly Uncertain significance Multiple submitters
- DRP2 p.Asp434Tyr Uncertain significance Multiple submitters
- DRP2 p.Gly66Glu Uncertain significance Multiple submitters
- DRP2 p.His297Gln Uncertain significance Multiple submitters
- DRP2 p.Ile260Thr Uncertain significance Multiple submitters
- DRP2 p.Leu197Phe Likely benign Multiple submitters
- DRP2 p.Lys121Asn Uncertain significance Multiple submitters
- DRP2 p.Lys214Glu Uncertain significance Multiple submitters
- DRP2 p.Phe175Cys Benign Multiple submitters
- DRP2 p.Pro710Leu Uncertain significance Multiple submitters
- DRP2 p.Ser889Leu Uncertain significance Multiple submitters
- DRP2 p.Thr206Met Uncertain significance Multiple submitters
- DRP2 p.Val162Leu Uncertain significance Multiple submitters
- DRP2 p.Val598Ile Uncertain significance Multiple submitters
- DRP2 p.Val5Ile Uncertain significance Multiple submitters
- DRP2 p.Val697Leu Uncertain significance Multiple submitters
- DRP2 p.Ala127Pro Uncertain significance Single submitter
- DRP2 p.Ala147Asp Uncertain significance Single submitter
- DRP2 p.Ala168Gly Uncertain significance Single submitter
- DRP2 p.Arg155Trp Uncertain significance Single submitter
- DRP2 p.Arg193Trp Uncertain significance Single submitter
- DRP2 p.Arg199Cys Uncertain significance Single submitter
- DRP2 p.Arg218His Conflicting Single submitter
- DRP2 p.Arg320Gln Uncertain significance Single submitter
- DRP2 p.Arg340Gln Uncertain significance Single submitter
- DRP2 p.Arg411Lys Uncertain significance Single submitter
- DRP2 p.Arg492Gln Uncertain significance Single submitter
- DRP2 p.Arg529Cys Uncertain significance Single submitter
- DRP2 p.Arg529His Uncertain significance Single submitter
- DRP2 p.Arg642Gly Uncertain significance Single submitter
-
DRP2 p.Arg720Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type X
- DRP2 p.Arg757Trp Uncertain significance Single submitter
- DRP2 p.Arg765Trp Likely benign Single submitter
- DRP2 p.Arg797Gln Uncertain significance Single submitter
- DRP2 p.Arg805Leu Uncertain significance Single submitter
- DRP2 p.Arg843Trp Uncertain significance Single submitter
- DRP2 p.Arg869Cys Uncertain significance Single submitter
- DRP2 p.Arg904Trp Uncertain significance Single submitter
- DRP2 p.Arg96Cys Uncertain significance Single submitter
- DRP2 p.Asn365Ser Uncertain significance Single submitter
- DRP2 p.Asn555Ser Uncertain significance Single submitter
- DRP2 p.Asp134Asn Likely benign Single submitter
- DRP2 p.Asp287Gly Uncertain significance Single submitter
- DRP2 p.Asp716Asn Uncertain significance Single submitter
- DRP2 p.Asp912Tyr Uncertain significance Single submitter
- DRP2 p.Gln273Arg Uncertain significance Single submitter
- DRP2 p.Gln334His Uncertain significance Single submitter
- DRP2 p.Gln347His Uncertain significance Single submitter
- DRP2 p.Gln390Arg Uncertain significance Single submitter
- DRP2 p.Gln628Lys Uncertain significance Single submitter
- DRP2 p.Glu124Val Uncertain significance Single submitter
- DRP2 p.Glu330Val Uncertain significance Single submitter
- DRP2 p.Glu461Asp Uncertain significance Single submitter
- DRP2 p.Glu98Gln Uncertain significance Single submitter
- DRP2 p.Gly156Cys Uncertain significance Single submitter
- DRP2 p.His536Arg Uncertain significance Single submitter
- DRP2 p.His718Arg Uncertain significance Single submitter
- DRP2 p.His830Tyr Uncertain significance Single submitter
- DRP2 p.Ile272Met Uncertain significance Single submitter
- DRP2 p.Ile398Val Uncertain significance Single submitter
- DRP2 p.Ile633Val Uncertain significance Single submitter
- DRP2 p.Leu263Val Uncertain significance Single submitter
- DRP2 p.Leu479Val Uncertain significance Single submitter
- DRP2 p.Leu579Met Likely benign Single submitter
- DRP2 p.Lys497Arg Uncertain significance Single submitter
- DRP2 p.Lys685Arg Uncertain significance Single submitter
- DRP2 p.Met666Ile Uncertain significance Single submitter
- DRP2 p.Pro357Ser Uncertain significance Single submitter
- DRP2 p.Pro558Ala Uncertain significance Single submitter
- DRP2 p.Pro659Leu Uncertain significance Single submitter
- DRP2 p.Pro659Thr Uncertain significance Single submitter
- DRP2 p.Pro710Arg Uncertain significance Single submitter
- DRP2 p.Ser119Arg Uncertain significance Single submitter
- DRP2 p.Ser185Ile Uncertain significance Single submitter
- DRP2 p.Ser248Asn Uncertain significance Single submitter
- DRP2 p.Ser737Pro Uncertain significance Single submitter
- DRP2 p.Ser744Phe Uncertain significance Single submitter
- DRP2 p.Ser744Tyr Uncertain significance Single submitter
- DRP2 p.Ser90Phe Uncertain significance Single submitter
- DRP2 p.Ser927Asn Uncertain significance Single submitter
- DRP2 p.Thr246Ile Uncertain significance Single submitter
- DRP2 p.Thr506Met Conflicting Single submitter
- DRP2 p.Thr658Ile Uncertain significance Single submitter
- DRP2 p.Thr705Met Uncertain significance Single submitter
- DRP2 p.Thr851Met Uncertain significance Single submitter
- DRP2 p.Tyr389Cys Uncertain significance Single submitter
- DRP2 p.Tyr651Cys Uncertain significance Single submitter
- DRP2 p.Val445Gly Uncertain significance Single submitter
- DRP2 p.Val44Phe Uncertain significance Single submitter
-
DRP2 p.Arg457His
Uncertain significance
No assertion criteria
DRP2-related disorder
All DRP2 variants
Pathogenic 14
- p.Glu432Ter Multiple submitters Charcot-Marie-Tooth disease
- p.Arg320Ter Single submitter
- p.Arg32Ter Single submitter
- p.Arg689Ter Single submitter
- p.Arg720Ter Single submitter
- p.Gln222Ter Single submitter Charcot-Marie-Tooth disease X-linked dominant 1
- p.Gln786Ter Single submitter
- p.Glu580Ter Single submitter
- p.Glu784Ter Single submitter
- p.Glu838fs Single submitter
- p.Lys142Ter Single submitter
- p.Phe769fs Single submitter
- p.Pro174fs Single submitter
- p.Ser776fs Single submitter
Likely pathogenic 4
- c.1677_1698+44del Single submitter
- c.1866-1G>A Single submitter
- c.2114+1G>A Single submitter
- p.Ala127fs Single submitter
Conflicting classifications of pathogenicity 12
- p.Ala326= Single submitter
- p.Ala95Thr Single submitter ⚠
- p.Arg15Ter Single submitter
- p.Arg218His Single submitter ⚠
- p.Arg228Gln Single submitter ⚠
- p.Arg32Gln Single submitter Charcot-Marie-Tooth disease ⚠
- p.Gln325Ter Single submitter
- p.Gln336Ter Single submitter DRP2-related disorder
- p.Met711Thr Single submitter ⚠
- p.Phe282Leu Single submitter ⚠
- p.Thr216Ala Single submitter ⚠
- p.Thr506Met Single submitter ⚠
Benign 44
- c.1454+5G>A Multiple submitters Charcot-Marie-Tooth disease
- c.1454+8C>T Multiple submitters
- c.1698+147C>G Multiple submitters
- c.1698+48G>C Multiple submitters
- c.1699-25C>G Multiple submitters
- c.1978-3C>T Multiple submitters
- c.2247-9C>T Multiple submitters
- c.2391-113G>A Multiple submitters
- c.2629-52G>A Multiple submitters
- c.2750-154A>G Multiple submitters
- c.438+9G>A Multiple submitters
- c.560-194T>A Multiple submitters
- c.828+172C>T Multiple submitters
- c.976-4A>G Multiple submitters
- c.-63-62G>A Multiple submitters
- c.*182A>G Multiple submitters
- p.Arg155= Multiple submitters
- p.Glu585= Multiple submitters
- p.His145= Multiple submitters
- p.His182= Multiple submitters
- p.Leu63= Multiple submitters
- p.Leu649= Multiple submitters
- p.Leu792= Multiple submitters
- p.Phe175Cys Multiple submitters ⚠
- p.Ser60Arg Multiple submitters
- p.Val68Leu Multiple submitters
- c.118-169A>G Single submitter
- c.1252+17A>G Single submitter
- c.1454+107_1454+109del Single submitter
- c.1699-10G>T Single submitter
- c.1865+13A>G Single submitter
- c.1866-7C>T Single submitter
- c.2246+199A>G Single submitter
- c.2391-17G>A Single submitter
- c.559+7G>T Single submitter
- c.560-194dup Single submitter
- c.828+14C>A Single submitter
- p.Glu537= Single submitter
- p.Gly569Arg Single submitter
- p.Leu465= Single submitter
- p.Leu867= Single submitter
- p.Pro911= Single submitter
- p.Ser327= Single submitter
- p.Ser957= Single submitter
Benign/Likely benign 4
Likely benign 164
- c.2246+14G>A Multiple submitters
- p.Ala147Thr Multiple submitters
- p.His440= Multiple submitters
- p.His714= Multiple submitters
- p.Leu197Phe Multiple submitters ⚠
- p.Leu59= Multiple submitters
- p.Thr188= Multiple submitters
- p.Val441Met Multiple submitters
- c.1054+20C>T Single submitter
- c.1054+9A>G Single submitter
- c.1055-17C>T Single submitter
- c.1055-9C>T Single submitter
- c.1115+16A>G Single submitter
- c.1116-20A>G Single submitter
- c.1116-7T>C Single submitter
- c.1116-8G>A Single submitter
- c.117+18A>G Single submitter
- c.1177+15T>A Single submitter
- c.1177+20G>A Single submitter
- c.1178-15C>T Single submitter
- c.1178-6T>C Single submitter
- c.118-11T>C Single submitter
- c.118-12G>T Single submitter
- c.1252+12G>C Single submitter
- c.1253-19T>G Single submitter
- c.1253-7T>C Single submitter
- c.1454+14G>A Single submitter
- c.1454+7G>A Single submitter
- c.1540+14C>T Single submitter
- c.1540+14dup Single submitter
- c.1540+15A>G Single submitter
- c.1541-15C>T Single submitter
- c.1541-6C>T Single submitter
- c.1699-4G>A Single submitter
- c.1699-5C>T Single submitter
- c.1699-8T>G Single submitter
- c.1865+10A>G Single submitter
- c.1865+15A>C Single submitter
- c.1866-4C>T Single submitter
- c.1977+16G>T Single submitter
- c.1977+19G>A Single submitter
- c.1978-5C>T Single submitter
- c.1978-6C>T Single submitter
- c.1978-9C>T Single submitter
- c.2115-20T>G Single submitter
- c.2115-4C>T Single submitter
- c.2180+10G>A Single submitter
- c.2180+11G>A Single submitter
- c.2180+12T>C Single submitter
- c.2180+16C>T Single submitter
- c.2180+17G>A Single submitter
- c.2180+19del Single submitter
- c.2246+13A>G Single submitter
- c.2246+9C>T Single submitter
- c.2247-11C>T Single submitter
- c.2247-14C>G Single submitter
- c.2247-15C>T Single submitter
- c.2247-6A>G Single submitter
- c.2390+19G>A Single submitter
- c.2391-13C>T Single submitter
- c.2391-18T>G Single submitter
- c.2391-19G>C Single submitter
- c.2628+10G>A Single submitter
- c.2628+12G>A Single submitter
- c.2628+17G>A Single submitter
- c.2750-14G>A Single submitter
- c.2750-16C>T Single submitter
- c.2750-18C>G Single submitter
- c.282-8G>C Single submitter
- c.282-9T>C Single submitter
- c.438+12T>A Single submitter
- c.438+16A>G Single submitter
- c.438+19A>G Single submitter
- c.439-10A>C Single submitter
- c.439-11_439-10insTCT Single submitter
- c.559+12del Single submitter
- c.559+16T>C Single submitter
- c.559+8G>T Single submitter
- c.560-7C>T Single submitter
- c.828+12C>A Single submitter
- c.829-16G>C Single submitter
- c.975+17G>A Single submitter
- c.976-17C>T Single submitter
- c.976-4A>T Single submitter
- c.976-6C>T Single submitter
- p.Ala205= Single submitter
- p.Ala208= Single submitter
- p.Ala453= Single submitter
- p.Arg404= Single submitter
- p.Arg492= Single submitter
- p.Arg565= Single submitter
- p.Arg765Trp Single submitter ⚠
- p.Arg805= Single submitter
- p.Arg945= Single submitter
- p.Asn318= Single submitter
- p.Asn477= Single submitter
- p.Asn630= Single submitter
- p.Asn65= Single submitter
- p.Asp102= Single submitter
- p.Asp134Asn Single submitter ⚠
- p.Asp134Tyr Single submitter
- p.Asp52= Single submitter
- p.Asp747= Single submitter
- p.Asp821= Single submitter
- p.Cys471= Single submitter
- p.Cys637= Single submitter
- p.Cys736= Single submitter
- p.Cys775= Single submitter
- p.Cys82= Single submitter
- p.Gln167= Single submitter
- p.Gln298= Single submitter
- p.Gln376= Single submitter
- p.Gln615= Single submitter
- p.Gln868= Single submitter
- p.Glu164= Single submitter
- p.Glu432= Single submitter
- p.Glu75Val Single submitter
- p.Glu766= Single submitter
- p.Glu812= Single submitter
- p.Gly489= Single submitter
- p.Gly505= Single submitter
- p.Gly532= Single submitter
- p.Gly569= Single submitter
- p.Gly620= Single submitter
- p.His223= Single submitter
- p.His297= Single submitter
- p.His530= Single submitter
- p.His791= Single submitter
- p.Ile159= Single submitter
- p.Ile260= Single submitter
- p.Ile362= Single submitter
- p.Ile653= Single submitter
- p.Leu131= Single submitter
- p.Leu163= Single submitter
- p.Leu197= Single submitter
- p.Leu277= Single submitter
- p.Leu31= Single submitter
- p.Leu503= Single submitter
- p.Leu579= Single submitter
- p.Leu579Met Single submitter ⚠
- p.Leu756= Single submitter
- p.Lys214= Single submitter
- p.Lys648= Single submitter
- p.Phe169= Single submitter
- p.Pro190= Single submitter
- p.Pro284= Single submitter
- p.Pro687= Single submitter
- p.Pro817= Single submitter
- p.Pro895= Single submitter
- p.Ser165= Single submitter
- p.Ser189= Single submitter
- p.Ser302= Single submitter
- p.Ser662= Single submitter
- p.Ser744= Single submitter
- p.Ser889= Single submitter
- p.Thr206= Single submitter
- p.Thr506= Single submitter
- p.Thr568= Single submitter
- p.Thr608= Single submitter
- p.Thr851= Single submitter
- p.Thr879= Single submitter
- p.Thr913= Single submitter
- p.Tyr11= Single submitter
- p.Val319= Single submitter
Uncertain significance 294
- p.Ala205Val Multiple submitters ⚠
- p.Ala643Thr Multiple submitters ⚠
- p.Arg199His Multiple submitters ⚠
- p.Arg224Cys Multiple submitters ⚠
- p.Arg224His Multiple submitters ⚠
- p.Arg340Trp Multiple submitters ⚠
- p.Arg457Cys Multiple submitters ⚠
- p.Arg543His Multiple submitters ⚠
- p.Arg561His Multiple submitters ⚠
- p.Arg565Cys Multiple submitters ⚠
- p.Arg597Trp Multiple submitters ⚠
- p.Arg765Gln Multiple submitters ⚠
- p.Arg848His Multiple submitters ⚠
- p.Arg938Cys Multiple submitters ⚠
- p.Asn431Ser Multiple submitters ⚠
- p.Asn467Ser Multiple submitters ⚠
- p.Asn630Ser Multiple submitters ⚠
- p.Asn665Ser Multiple submitters ⚠
- p.Asp102Gly Multiple submitters ⚠
- p.Asp434Tyr Multiple submitters ⚠
- p.Asp52Asn Multiple submitters ⚠
- p.Cys58Tyr Multiple submitters ⚠
- p.Gly66Arg Multiple submitters ⚠
- p.Gly66Glu Multiple submitters ⚠
- p.Gly690Ser Multiple submitters ⚠
- p.Gly907Arg Multiple submitters ⚠
- p.His297Gln Multiple submitters ⚠
- p.His902Arg Multiple submitters ⚠
- p.Ile260Thr Multiple submitters ⚠
- p.Ile429Leu Multiple submitters ⚠
- p.Ile855Phe Multiple submitters ⚠
- p.Leu59Arg Multiple submitters ⚠
- p.Lys121Asn Multiple submitters ⚠
- p.Lys214Glu Multiple submitters ⚠
- p.Lys88Arg Multiple submitters ⚠
- p.Met474Ile Multiple submitters ⚠
- p.Met711Val Multiple submitters ⚠
- p.Pro10Leu Multiple submitters ⚠
- p.Pro36Leu Multiple submitters ⚠
- p.Pro47Thr Multiple submitters ⚠
- p.Pro50Ala Multiple submitters ⚠
- p.Pro57Thr Multiple submitters ⚠
- p.Pro710Leu Multiple submitters ⚠
- p.Pro73Ala Multiple submitters ⚠
- p.Pro73Thr Multiple submitters ⚠
- p.Ser185Asn Multiple submitters ⚠
- p.Ser889Leu Multiple submitters ⚠
- p.Thr206Met Multiple submitters ⚠
- p.Thr452Ile Multiple submitters ⚠
- p.Val162Leu Multiple submitters ⚠
- p.Val328Ile Multiple submitters ⚠
- p.Val598Ile Multiple submitters ⚠
- p.Val5Ile Multiple submitters ⚠
- p.Val697Leu Multiple submitters ⚠
- c.1054+5G>A Single submitter
- c.118-3C>T Single submitter
- c.1252+5G>A Single submitter
- c.1541-14G>A Single submitter
- c.1541-3C>A Single submitter
- c.1541-6C>A Single submitter
- c.1698+5G>C Single submitter hereditary motor and sensory neuropathy
- c.1977+6A>C Single submitter
- c.2181-5C>A Single submitter
- c.2749+5G>A Single submitter
- c.282-3C>T Single submitter
- c.829-18T>A Single submitter
- c.-19C>A Single submitter
- c.-19C>G Single submitter
- p.Ala127Pro Single submitter ⚠
- p.Ala147Asp Single submitter ⚠
- p.Ala168Gly Single submitter ⚠
- p.Ala205Glu Single submitter ⚠
- p.Ala21Glu Single submitter ⚠
- p.Ala274Gly Single submitter ⚠
- p.Ala300Thr Single submitter ⚠
- p.Ala361Glu Single submitter ⚠
- p.Ala437Ser Single submitter ⚠
- p.Ala453Thr Single submitter ⚠
- p.Ala593Thr Single submitter ⚠
- p.Ala715Thr Single submitter ⚠
- p.Ala768Gly Single submitter ⚠
- p.Ala820Ser Single submitter ⚠
- p.Ala837Asp Single submitter ⚠
- p.Ala887Pro Single submitter ⚠
- p.Ala892Thr Single submitter ⚠
- p.Ala915Val Single submitter ⚠
- p.Ala99Gly Single submitter ⚠
- p.Ala99Pro Single submitter ⚠
- p.Arg155Trp Single submitter ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg193Trp Single submitter ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg218Cys Single submitter ⚠
- p.Arg228Trp Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg404His Single submitter ⚠
- p.Arg410His Single submitter ⚠
- p.Arg411Lys Single submitter ⚠
- p.Arg417His Single submitter ⚠
- p.Arg41Leu Single submitter
- p.Arg41Lys Single submitter ⚠
- p.Arg462Gly Single submitter ⚠
- p.Arg487Cys Single submitter ⚠
- p.Arg487His Single submitter ⚠
- p.Arg492Gln Single submitter ⚠
- p.Arg529Cys Single submitter ⚠
- p.Arg529His Single submitter ⚠
- p.Arg565His Single submitter ⚠
- p.Arg597Gln Single submitter ⚠
- p.Arg622Gly Single submitter ⚠
- p.Arg624Trp Single submitter ⚠
- p.Arg642Gly Single submitter ⚠
- p.Arg678Cys Single submitter ⚠
- p.Arg720Gln Single submitter Charcot-Marie-Tooth disease type X ⚠
- p.Arg757Gln Single submitter ⚠
- p.Arg757Trp Single submitter ⚠
- p.Arg797Gln Single submitter ⚠
- p.Arg804Thr Single submitter ⚠
- p.Arg805Leu Single submitter ⚠
- p.Arg831Gly Single submitter ⚠
- p.Arg831Leu Single submitter ⚠
- p.Arg843Trp Single submitter ⚠
- p.Arg848Leu Single submitter ⚠
- p.Arg869Cys Single submitter ⚠
- p.Arg904Gln Single submitter ⚠
- p.Arg904Gly Single submitter ⚠
- p.Arg904Trp Single submitter ⚠
- p.Arg938His Single submitter ⚠
- p.Arg94= Single submitter
- p.Arg945Gln Single submitter ⚠
- p.Arg945Ter Single submitter
- p.Arg94Cys Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Arg96Cys Single submitter ⚠
- p.Arg96His Single submitter ⚠
- p.Asn196Lys Single submitter ⚠
- p.Asn365Ser Single submitter ⚠
- p.Asn397= Single submitter
- p.Asn477Ser Single submitter ⚠
- p.Asn481Tyr Single submitter ⚠
- p.Asn555Ser Single submitter ⚠
- p.Asn583His Single submitter ⚠
- p.Asp18Val Single submitter ⚠
- p.Asp287Gly Single submitter ⚠
- p.Asp337Val Single submitter ⚠
- p.Asp434Glu Single submitter ⚠
- p.Asp484Gly Single submitter ⚠
- p.Asp716Asn Single submitter ⚠
- p.Asp741= Single submitter
- p.Asp821Asn Single submitter ⚠
- p.Asp912Tyr Single submitter ⚠
- p.Asp917Asn Single submitter ⚠
- p.Cys526fs Single submitter
- p.Cys9Tyr Single submitter ⚠
- p.Gln112Arg Single submitter ⚠
- p.Gln273Arg Single submitter ⚠
- p.Gln334His Single submitter ⚠
- p.Gln347His Single submitter ⚠
- p.Gln347Ter Single submitter Charcot-Marie-Tooth disease X-linked dominant 1
- p.Gln390Arg Single submitter ⚠
- p.Gln436Arg Single submitter ⚠
- p.Gln628Lys Single submitter ⚠
- p.Gln896Arg Single submitter ⚠
- p.Glu124Val Single submitter ⚠
- p.Glu270Asp Single submitter ⚠
- p.Glu330Val Single submitter ⚠
- p.Glu439Asp Single submitter ⚠
- p.Glu461Asp Single submitter ⚠
- p.Glu557Lys Single submitter ⚠
- p.Glu722Gln Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Glu766Val Single submitter ⚠
- p.Glu825Lys Single submitter ⚠
- p.Glu857Lys Single submitter ⚠
- p.Glu880Lys Single submitter ⚠
- p.Glu905fs Single submitter
- p.Glu905Lys Single submitter ⚠
- p.Glu914Lys Single submitter ⚠
- p.Glu98Gln Single submitter ⚠
- p.Gly156Cys Single submitter ⚠
- p.Gly252Arg Single submitter ⚠
- p.Gly288Glu Single submitter ⚠
- p.Gly489Arg Single submitter ⚠
- p.Gly499= Single submitter
- p.Gly505Ser Single submitter ⚠
- p.Gly72Arg Single submitter ⚠
- p.Gly883Asp Single submitter ⚠
- p.Gly920Glu Single submitter ⚠
- p.His173Asn Single submitter ⚠
- p.His433Arg Single submitter ⚠
- p.His536Arg Single submitter ⚠
- p.His606Leu Single submitter ⚠
- p.His650Gln Single submitter ⚠
- p.His718Arg Single submitter ⚠
- p.His758Gln Single submitter DRP2-related disorder ⚠
- p.His830Tyr Single submitter ⚠
- p.Ile226Val Single submitter ⚠
- p.Ile272Met Single submitter ⚠
- p.Ile398Val Single submitter ⚠
- p.Ile600Asn Single submitter ⚠
- p.Ile633Val Single submitter ⚠
- p.Ile653Val Single submitter ⚠
- p.Ile86Arg Single submitter ⚠
- p.Leu125Phe Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu211Pro Single submitter ⚠
- p.Leu263Val Single submitter ⚠
- p.Leu479Val Single submitter ⚠
- p.Leu503Phe Single submitter ⚠
- p.Leu515Val Single submitter ⚠
- p.Leu545Met Single submitter ⚠
- p.Leu595Val Single submitter ⚠
- p.Leu59Val Single submitter ⚠
- p.Leu835Phe Single submitter ⚠
- p.Leu954Arg Single submitter ⚠
- p.Leu97Pro Single submitter ⚠
- p.Lys186Glu Single submitter ⚠
- p.Lys333Thr Single submitter ⚠
- p.Lys399Met Single submitter ⚠
- p.Lys414Thr Single submitter ⚠
- p.Lys497Arg Single submitter ⚠
- p.Lys685Arg Single submitter ⚠
- p.Lys782Glu Single submitter ⚠
- p.Lys787Arg Single submitter ⚠
- p.Met149Leu Single submitter Charcot-Marie-Tooth disease ⚠
- p.Met149Val Single submitter ⚠
- p.Met240Val Single submitter ⚠
- p.Met285Thr Single submitter ⚠
- p.Met4Ile Single submitter ⚠
- p.Met4Val Single submitter ⚠
- p.Met654Val Single submitter ⚠
- p.Met666Ile Single submitter ⚠
- p.Phe148Leu Single submitter ⚠
- p.Phe25Ser Single submitter ⚠
- p.Phe278Leu Single submitter ⚠
- p.Phe496Leu Single submitter ⚠
- p.Pro181Thr Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro357Ser Single submitter ⚠
- p.Pro364His Single submitter ⚠
- p.Pro36Thr Single submitter ⚠
- p.Pro47Ala Single submitter ⚠
- p.Pro542Arg Single submitter ⚠
- p.Pro558Ala Single submitter ⚠
- p.Pro558Leu Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Pro659Leu Single submitter ⚠
- p.Pro659Thr Single submitter ⚠
- p.Pro710Arg Single submitter ⚠
- p.Pro817Ser Single submitter ⚠
- p.Pro878Ser Single submitter ⚠
- p.Pro903Thr Single submitter ⚠
- p.Ser119Arg Single submitter ⚠
- p.Ser161Pro Single submitter ⚠
- p.Ser185Ile Single submitter ⚠
- p.Ser248Asn Single submitter ⚠
- p.Ser475Thr Single submitter ⚠
- p.Ser488Asn Single submitter ⚠
- p.Ser737Pro Single submitter ⚠
- p.Ser744Phe Single submitter ⚠
- p.Ser744Tyr Single submitter ⚠
- p.Ser881Leu Single submitter ⚠
- p.Ser884Thr Single submitter ⚠
- p.Ser90Cys Single submitter ⚠
- p.Ser90Phe Single submitter ⚠
- p.Ser927Asn Single submitter ⚠
- p.Thr245Ala Single submitter ⚠
- p.Thr246Ile Single submitter ⚠
- p.Thr378= Single submitter
- p.Thr378Ala Single submitter ⚠
- p.Thr424Pro Single submitter ⚠
- p.Thr658Ile Single submitter ⚠
- p.Thr672Ala Single submitter DRP2-related disorder ⚠
- p.Thr705Met Single submitter ⚠
- p.Thr851Met Single submitter ⚠
- p.Trp808Gly Single submitter ⚠
- p.Tyr158Cys Single submitter ⚠
- p.Tyr160Cys Single submitter ⚠
- p.Tyr389Cys Single submitter ⚠
- p.Tyr651Cys Single submitter ⚠
- p.Val201Ile Single submitter ⚠
- p.Val289Ile Single submitter ⚠
- p.Val319Ile Single submitter ⚠
- p.Val445Gly Single submitter ⚠
- p.Val447Ile Single submitter ⚠
- p.Val44Phe Single submitter ⚠
- p.Val468Met Single submitter ⚠
- p.Val472Met Single submitter ⚠
- p.Val631Ile Single submitter ⚠
- p.Val944Gly Single submitter ⚠
- p.Arg457His No assertion criteria DRP2-related disorder ⚠
- p.Ser29fs No assertion criteria
- p.Ser625Arg No assertion criteria autism ⚠