IBA57 — 319 ClinVar variants
All ClinVar germline IBA57 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →
21 Pathogenic · 5 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 10 Conflicting · 7 Benign · 4 Benign/Likely benign · 99 Likely benign · 162 Uncertain significance
Full IBA57 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 149
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
IBA57 p.Thr106Ala
Pathogenic/Likely pathogenic
Multiple submitters
hereditary spastic paraplegia 74
-
IBA57 p.Arg146Trp
Pathogenic/Likely pathogenic
No assertion criteria
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Gln314Pro
Pathogenic
No assertion criteria
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro236Ser
Pathogenic
No assertion criteria
multiple mitochondrial dysfunctions syndrome 3
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IBA57 p.Ala4Val
Conflicting
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Gly252Ser
Conflicting
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Leu112Trp
Conflicting
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ser35Phe
Conflicting
Single submitter
Inborn genetic diseases
-
IBA57 p.Thr57Ala
Conflicting
Single submitter
multiple mitochondrial dysfunctions syndrome 3
Predictors lean, ClinVar uncertain 111
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
IBA57 p.Ala169Val
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ala192Thr
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ala26Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Ala32Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 74
-
IBA57 p.Ala345Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Ala91Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Arg28Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Arg30His
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Arg8Gln
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Glu264Lys
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Gly195Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Gly87Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 74
-
IBA57 p.Ile327Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Phe284Ser
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro236Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Pro89Leu
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ser165Gly
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ser82Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Thr11Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 74
-
IBA57 p.Thr200Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Thr298Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 74
-
IBA57 p.Val102Met
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Val228Leu
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ala10Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ala141Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ala141Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ala141Val
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Ala161Pro Uncertain significance Single submitter
- IBA57 p.Ala172Asp Uncertain significance Single submitter
-
IBA57 p.Ala179Ser
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ala179Val
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Ala206Val Uncertain significance Single submitter
-
IBA57 p.Ala248Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Ala32Asp Uncertain significance Single submitter
-
IBA57 p.Ala32Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ala339Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ala47Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ala88Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
- IBA57 p.Arg187His Uncertain significance Single submitter
-
IBA57 p.Arg193Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
- IBA57 p.Arg193Leu Uncertain significance Single submitter
-
IBA57 p.Arg223Gly
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Arg268Cys
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Arg268His
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Arg278Leu Uncertain significance Single submitter
-
IBA57 p.Arg311Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Arg311Thr
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
- IBA57 p.Asn246Lys Uncertain significance Single submitter
-
IBA57 p.Asn251Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Asp109Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
- IBA57 p.Asp41Asn Uncertain significance Single submitter
-
IBA57 p.Cys29Gly
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
- IBA57 p.Glu230Lys Uncertain significance Single submitter
- IBA57 p.Glu337Asp Uncertain significance Single submitter
-
IBA57 p.Glu77Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Gly13Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Gly171Arg
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Gly39Asp
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Gly9Val
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.His118Gln
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
- IBA57 p.His154Pro Uncertain significance Single submitter
-
IBA57 p.Ile184Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ile261Leu
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Leu125Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Leu235Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Leu58Pro
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Leu58Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
- IBA57 p.Leu59Arg Uncertain significance Single submitter
- IBA57 p.Leu71Pro Uncertain significance Single submitter
-
IBA57 p.Leu74Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Leu78Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Met272Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Met272Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Phe255Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Phe69Ser
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro12Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Pro17Ser Uncertain significance Single submitter
- IBA57 p.Pro205Ser Uncertain significance Single submitter
-
IBA57 p.Pro242Ser
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro27Thr
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro330Arg
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro330Ser
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro64Thr
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro90Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Ser130Arg
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ser130Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Ser130Ile Uncertain significance Single submitter
-
IBA57 p.Ser165Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Ser324Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Ser34Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ser34Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ser37Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ser37Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ser37Ile
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ser82Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Thr106Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
- IBA57 p.Thr150Met Uncertain significance Single submitter
-
IBA57 p.Thr256Ser
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Trp21Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Trp323Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Tyr113His Uncertain significance Single submitter
-
IBA57 p.Tyr260His
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Tyr96Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Val102Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Val102Leu
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Val110Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Val232Ala Uncertain significance Single submitter
-
IBA57 p.Val239Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Val274Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Val282Ile Uncertain significance Single submitter
-
IBA57 p.Gly308Val
Uncertain significance
No assertion criteria
microcephaly
Predictors split 29
The independent predictors disagree with each other — read with care.
-
IBA57 p.Ala345Ser
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Arg147Trp
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Arg276Cys
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Arg276His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 74
-
IBA57 p.Asn76Ser
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Gly214Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 74
-
IBA57 p.Leu107Phe
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Thr200Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IBA57 p.Val102Gly
Uncertain significance
Multiple submitters
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ala135Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ala49Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Ala66Val Uncertain significance Single submitter
-
IBA57 p.Arg144Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Arg223Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Arg278Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Asn246Ser
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
- IBA57 p.Gly114Trp Uncertain significance Single submitter
-
IBA57 p.Gly171Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.His98Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Ile145Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Leu199Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Lys309Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Phe310Leu
Likely benign
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Pro287Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IBA57 p.Pro289Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 74
-
IBA57 p.Pro81Arg
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 3
-
IBA57 p.Ser35Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- IBA57 p.Thr269Ile Uncertain significance Single submitter
-
IBA57 p.Tyr108Cys
Uncertain significance
Single submitter
Inborn genetic diseases
All IBA57 variants
Pathogenic 21
- p.Gln103Ter Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Gln226= Multiple submitters hereditary spastic paraplegia 74
- p.Tyr113Ter Multiple submitters hereditary spastic paraplegia 74
- p.Tyr96His Multiple submitters hereditary spastic paraplegia 74
- p.Ala25fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Arg190fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Arg197fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Arg233Ter Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Asp129Ter Single submitter hereditary spastic paraplegia 74
- p.Glu152Ter Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.His98fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Leu112Ter Single submitter hereditary spastic paraplegia 74
- p.Phe69fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Trp48Ter Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Tyr96fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Cys50Ter No assertion criteria multiple mitochondrial dysfunctions syndrome 3
- p.Gln314Pro No assertion criteria multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Gln314Ter No assertion criteria multiple mitochondrial dysfunctions syndrome 3
- p.Pro229Leu No assertion criteria multiple mitochondrial dysfunctions syndrome 3
- p.Pro236Ser No assertion criteria multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Trp196Gly No assertion criteria multiple mitochondrial dysfunctions syndrome 3
Pathogenic/Likely pathogenic 5
- p.Ala88fs Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Gln116Ter Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Thr106Ala Multiple submitters hereditary spastic paraplegia 74 ⚠
- p.Thr106fs Multiple submitters IBA57-related disorder
- p.Arg146Trp No assertion criteria multiple mitochondrial dysfunctions syndrome 3 ⚠
Likely pathogenic 11
- p.Arg105Trp Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Gly104Cys Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Pro209fs Multiple submitters
- c.341+1G>A Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.341+1G>T Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.341+2T>G Single submitter hereditary spastic paraplegia 74
- c.342-488_361del Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala86fs Single submitter
- p.Gly9fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Thr11fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Tyr108Ser Single submitter multiple mitochondrial dysfunctions syndrome 3
Conflicting classifications of pathogenicity 10
- c.679+3A>G Single submitter hereditary spastic paraplegia 74
- c.680-5T>A Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala4Val Single submitter hereditary spastic paraplegia 74 ⚠
- p.Ala85_Ala92del Single submitter hereditary spastic paraplegia 74
- p.Gln305Ter Single submitter C1orf69/IBA57-related disorder
- p.Gly114= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Gly252Ser Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Leu112Trp Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ser35Phe Single submitter Inborn genetic diseases ⚠
- p.Thr57Ala Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
Benign 7
- c.342-180C>G Multiple submitters
- c.342-7C>A Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- c.342-87G>A Multiple submitters
- c.*19G>A Multiple submitters
- p.Gly45Ala Multiple submitters hereditary spastic paraplegia 74
- p.His154= Multiple submitters hereditary spastic paraplegia 74
- c.680-15del Single submitter hereditary spastic paraplegia 74
Benign/Likely benign 4
- p.Arg93= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Asp215= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Gly211Ser Multiple submitters hereditary spastic paraplegia 74
- p.Ile327Thr Multiple submitters multiple mitochondrial dysfunctions syndrome 3
Likely benign 99
- c.341+9G>A Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- c.342-29G>A Multiple submitters
- c.680-14T>G Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- c.*31G>A Multiple submitters
- p.Ala267= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Ala344= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Asp54= Multiple submitters hereditary spastic paraplegia 74
- p.Cys50= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Gly13= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Gly195= Multiple submitters hereditary spastic paraplegia 74
- p.Gly9= Multiple submitters hereditary spastic paraplegia 74
- p.Leu140= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Leu157= Multiple submitters hereditary spastic paraplegia 74
- p.Leu321= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Leu58= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Pro38= Multiple submitters hereditary spastic paraplegia 74
- p.Pro68= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Tyr260= Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- c.341+11G>T Single submitter hereditary spastic paraplegia 74
- c.341+20G>A Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.342-14C>T Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.342-14CT[2] Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.342-15C>T Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.342-192_342-177del Single submitter
- c.342-7C>T Single submitter
- c.679+20G>T Single submitter
- c.680-11A>G Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.680-13C>G Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.680-16C>A Single submitter hereditary spastic paraplegia 74
- c.680-18C>G Single submitter hereditary spastic paraplegia 74
- c.680-6C>T Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.-45dup Single submitter
- c.-9T>G Single submitter
- c.*3C>T Single submitter
- p.Ala10= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala161= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala179= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala192= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala240= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala26= Single submitter hereditary spastic paraplegia 74
- p.Ala297= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala302= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala335= Single submitter hereditary spastic paraplegia 74
- p.Ala46= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala49= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala66= Single submitter
- p.Ala67= Single submitter
- p.Ala85= Single submitter hereditary spastic paraplegia 74
- p.Ala88= Single submitter hereditary spastic paraplegia 74
- p.Arg105= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Arg28= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Arg52= Single submitter hereditary spastic paraplegia 74
- p.Asn251= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Asn316= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Asn316Thr Single submitter hereditary spastic paraplegia 74
- p.Asp65= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Cys29= Single submitter hereditary spastic paraplegia 74
- p.Gln133= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Glu77= Single submitter hereditary spastic paraplegia 74
- p.Gly134= Single submitter hereditary spastic paraplegia 74
- p.Gly204= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Gly211= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Gly231= Single submitter hereditary spastic paraplegia 74
- p.Gly329= Single submitter hereditary spastic paraplegia 74
- p.Gly63= Single submitter
- p.Gly95= Single submitter hereditary spastic paraplegia 74
- p.His332= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ile145= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ile275= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Leu100= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Leu126= Single submitter hereditary spastic paraplegia 74
- p.Leu163= Single submitter
- p.Leu198= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Leu213= Single submitter hereditary spastic paraplegia 74
- p.Leu247= Single submitter hereditary spastic paraplegia 74
- p.Leu279= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Leu319= Single submitter hereditary spastic paraplegia 74
- p.Leu53= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Leu6= Single submitter
- p.Leu70= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Phe124= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Phe310Leu Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro153= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Pro155= Single submitter hereditary spastic paraplegia 74
- p.Pro189= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Pro64= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ser174= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Thr11= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Thr256= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Thr266= Single submitter
- p.Thr298= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Thr3Ala Single submitter Inborn genetic diseases
- p.Tyr113= Single submitter hereditary spastic paraplegia 74
- p.Val18= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Val228Ile Single submitter Inborn genetic diseases
- p.Val232= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Val347= Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ser119= No assertion criteria IBA57-related disorder
- p.Val132= No assertion criteria IBA57-related disorder
Uncertain significance 162
- c.341+4A>G Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Ala161fs Multiple submitters hereditary spastic paraplegia 74
- p.Ala169Val Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ala192Thr Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ala26Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala32Thr Multiple submitters hereditary spastic paraplegia 74 ⚠
- p.Ala345Ser Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ala345Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala91Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg147Trp Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Arg197Trp Multiple submitters hereditary spastic paraplegia 74
- p.Arg276Cys Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Arg276His Multiple submitters hereditary spastic paraplegia 74 ⚠
- p.Arg28Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg30His Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Arg8Gln Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Asn76Ser Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Glu264Lys Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Gly195Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly214Arg Multiple submitters hereditary spastic paraplegia 74 ⚠
- p.Gly87Arg Multiple submitters hereditary spastic paraplegia 74 ⚠
- p.His222Asp Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Ile327Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu107Phe Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Met250Val Multiple submitters hereditary spastic paraplegia 74
- p.Phe284Ser Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro189Leu Multiple submitters multiple mitochondrial dysfunctions syndrome 3
- p.Pro236Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro348Ala Multiple submitters hereditary spastic paraplegia 74
- p.Pro89Leu Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ser165Gly Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ser82Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr11Ser Multiple submitters hereditary spastic paraplegia 74 ⚠
- p.Thr200Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr200Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr298Met Multiple submitters hereditary spastic paraplegia 74 ⚠
- p.Val102Gly Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Val102Met Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Val228Leu Multiple submitters multiple mitochondrial dysfunctions syndrome 3 ⚠
- c.341+4A>C Single submitter multiple mitochondrial dysfunctions syndrome 3
- c.341+6C>T Single submitter
- c.342-4_342-3delinsAA Single submitter hereditary spastic paraplegia 74
- c.679+1G>T Single submitter Possible mitochondrial disorder - nuclear genes
- c.-10C>G Single submitter
- p.Ala10Thr Single submitter Inborn genetic diseases ⚠
- p.Ala135Val Single submitter Inborn genetic diseases ⚠
- p.Ala141Arg Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala141Gly Single submitter Inborn genetic diseases ⚠
- p.Ala141Thr Single submitter Inborn genetic diseases ⚠
- p.Ala141Val Single submitter Inborn genetic diseases ⚠
- p.Ala161Pro Single submitter ⚠
- p.Ala172Asp Single submitter ⚠
- p.Ala179Ser Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ala179Val Single submitter Inborn genetic diseases ⚠
- p.Ala206Val Single submitter ⚠
- p.Ala248= Single submitter
- p.Ala248Thr Single submitter Inborn genetic diseases ⚠
- p.Ala312fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Ala32Asp Single submitter ⚠
- p.Ala32Val Single submitter Inborn genetic diseases ⚠
- p.Ala339Val Single submitter Inborn genetic diseases ⚠
- p.Ala47Asp Single submitter Inborn genetic diseases ⚠
- p.Ala49Pro Single submitter Inborn genetic diseases ⚠
- p.Ala66Val Single submitter ⚠
- p.Ala88Thr Single submitter hereditary spastic paraplegia 74 ⚠
- p.Arg144Gly Single submitter Inborn genetic diseases ⚠
- p.Arg187His Single submitter ⚠
- p.Arg193Cys Single submitter hereditary spastic paraplegia 74 ⚠
- p.Arg193Leu Single submitter ⚠
- p.Arg223Gln Single submitter hereditary spastic paraplegia 74 ⚠
- p.Arg223Gly Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Arg268Cys Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Arg268His Single submitter Inborn genetic diseases ⚠
- p.Arg278Cys Single submitter Inborn genetic diseases ⚠
- p.Arg278Leu Single submitter ⚠
- p.Arg311Gly Single submitter hereditary spastic paraplegia 74 ⚠
- p.Arg311Thr Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Asn246Lys Single submitter ⚠
- p.Asn246Ser Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Asn251Ser Single submitter Inborn genetic diseases ⚠
- p.Asp109Gly Single submitter hereditary spastic paraplegia 74 ⚠
- p.Asp41= Single submitter
- p.Asp41Asn Single submitter ⚠
- p.Cys29Gly Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Glu230Lys Single submitter ⚠
- p.Glu337Asp Single submitter ⚠
- p.Glu77Asp Single submitter Inborn genetic diseases ⚠
- p.Gly114Trp Single submitter ⚠
- p.Gly13Glu Single submitter Inborn genetic diseases ⚠
- p.Gly171Arg Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Gly171Trp Single submitter Inborn genetic diseases ⚠
- p.Gly39Asp Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Gly45fs Single submitter
- p.Gly72Ala Single submitter hereditary spastic paraplegia 74
- p.Gly95Ile Single submitter
- p.Gly9Val Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.His118Gln Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.His154Pro Single submitter ⚠
- p.His98Gln Single submitter Inborn genetic diseases ⚠
- p.Ile145Thr Single submitter hereditary spastic paraplegia 74 ⚠
- p.Ile184Val Single submitter Inborn genetic diseases ⚠
- p.Ile261Leu Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Leu125Phe Single submitter hereditary spastic paraplegia 74 ⚠
- p.Leu163Ser Single submitter hereditary spastic paraplegia 74
- p.Leu199Phe Single submitter Inborn genetic diseases ⚠
- p.Leu235Val Single submitter Inborn genetic diseases ⚠
- p.Leu58Pro Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Leu58Val Single submitter hereditary spastic paraplegia 74 ⚠
- p.Leu59Arg Single submitter ⚠
- p.Leu71Pro Single submitter ⚠
- p.Leu74Val Single submitter Inborn genetic diseases ⚠
- p.Leu78Val Single submitter hereditary spastic paraplegia 74 ⚠
- p.Lys309Asn Single submitter Inborn genetic diseases ⚠
- p.Lys356fs Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Met272Thr Single submitter Inborn genetic diseases ⚠
- p.Met272Val Single submitter hereditary spastic paraplegia 74 ⚠
- p.Phe255Leu Single submitter Inborn genetic diseases ⚠
- p.Phe69Ser Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro12Leu Single submitter Inborn genetic diseases ⚠
- p.Pro17Ser Single submitter ⚠
- p.Pro205Ser Single submitter ⚠
- p.Pro242Ser Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro27Thr Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro287Leu Single submitter Inborn genetic diseases ⚠
- p.Pro289Leu Single submitter hereditary spastic paraplegia 74 ⚠
- p.Pro330Arg Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro330Ser Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro352Leu Single submitter multiple mitochondrial dysfunctions syndrome 3
- p.Pro64Thr Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro81Arg Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Pro90Leu Single submitter hereditary spastic paraplegia 74 ⚠
- p.Ser130Arg Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ser130Gly Single submitter Inborn genetic diseases ⚠
- p.Ser130Ile Single submitter ⚠
- p.Ser165Asn Single submitter hereditary spastic paraplegia 74 ⚠
- p.Ser324Ala Single submitter hereditary spastic paraplegia 74 ⚠
- p.Ser34Arg Single submitter Inborn genetic diseases ⚠
- p.Ser34Asn Single submitter Inborn genetic diseases ⚠
- p.Ser35Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser37Arg Single submitter Inborn genetic diseases ⚠
- p.Ser37Gly Single submitter Inborn genetic diseases ⚠
- p.Ser37Ile Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Ser82Arg Single submitter Inborn genetic diseases ⚠
- p.Thr106Ser Single submitter hereditary spastic paraplegia 74 ⚠
- p.Thr150Met Single submitter ⚠
- p.Thr256Ser Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Thr269Ile Single submitter ⚠
- p.Trp21Arg Single submitter Inborn genetic diseases ⚠
- p.Trp323Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr108Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr113His Single submitter ⚠
- p.Tyr224Cys Single submitter
- p.Tyr260His Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Tyr96Cys Single submitter hereditary spastic paraplegia 74 ⚠
- p.Val102Ala Single submitter hereditary spastic paraplegia 74 ⚠
- p.Val102Leu Single submitter multiple mitochondrial dysfunctions syndrome 3 ⚠
- p.Val110Ala Single submitter Inborn genetic diseases ⚠
- p.Val232Ala Single submitter ⚠
- p.Val239Leu Single submitter Inborn genetic diseases ⚠
- p.Val274Ile Single submitter Inborn genetic diseases ⚠
- p.Val282Ile Single submitter ⚠
- p.Gly308Val No assertion criteria microcephaly ⚠