LARS2 — 620 ClinVar variants
All ClinVar germline LARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 234 flagged for review →
27 Pathogenic · 10 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 25 Conflicting · 58 Benign · 12 Benign/Likely benign · 241 Likely benign · 218 Uncertain significance
Full LARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 234
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 11
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
LARS2 p.Asp438Gly
Likely pathogenic
Multiple submitters
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
-
LARS2 p.Gln147Pro
Likely pathogenic
Multiple submitters
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
-
LARS2 p.Glu294Lys
Pathogenic/Likely pathogenic
Multiple submitters
Perrault syndrome 4
-
LARS2 p.Ile398Thr
Likely pathogenic
Multiple submitters
LARS2-Related Disorders
-
LARS2 p.Met417Val
Pathogenic/Likely pathogenic
Multiple submitters
Perrault syndrome 4
-
LARS2 p.Pro536Leu
Likely pathogenic
Multiple submitters
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
-
LARS2 p.Thr629Met
Pathogenic/Likely pathogenic
Multiple submitters
nonsyndromic genetic hearing loss
-
LARS2 p.Ile265Met
Likely pathogenic
Single submitter
Perrault syndrome 4
-
LARS2 p.Thr700Ile
Likely pathogenic
Single submitter
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
-
LARS2 p.Ala430Val
Pathogenic
No assertion criteria
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
-
LARS2 p.Pro712Ser
Likely pathogenic
No assertion criteria
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LARS2 p.Ala485Thr
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Ala255Thr
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Ala393Asp
Conflicting
Single submitter
Perrault syndrome 4
-
LARS2 p.Arg451Trp
Conflicting
Single submitter
Perrault syndrome 4
-
LARS2 p.Arg861Gln
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Asp649Glu
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Gln858Lys
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Glu50Lys
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Ile753Val
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Ser315Leu
Conflicting
Single submitter
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- LARS2 p.Ser72Phe Conflicting Single submitter
-
LARS2 p.Ser764Leu
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Thr297Ser
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Val735Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 148
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LARS2 p.Ala247Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Ala849Gly Uncertain significance Multiple submitters
-
LARS2 p.Arg163His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Arg30Lys Uncertain significance Multiple submitters
-
LARS2 p.Arg431Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Arg453Gln
Uncertain significance
Multiple submitters
Perrault syndrome
-
LARS2 p.Arg605His
Uncertain significance
Multiple submitters
Perrault syndrome 4
-
LARS2 p.Asn847Ser
Uncertain significance
Multiple submitters
Perrault syndrome 4
-
LARS2 p.Asp549Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Cys811Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Glu194Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.His223Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Ile484Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Leu370Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Leu879Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Lys286Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Lys49Glu Uncertain significance Multiple submitters
- LARS2 p.Lys585Glu Uncertain significance Multiple submitters
-
LARS2 p.Pro830Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Pro836Ala Uncertain significance Multiple submitters
-
LARS2 p.Pro854Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Ser641Asn
Uncertain significance
Multiple submitters
Perrault syndrome 4
-
LARS2 p.Ser760Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Ser80Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Thr343Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Thr379Ser Uncertain significance Multiple submitters
-
LARS2 p.Val359Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Val439Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Val565Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Val623Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Val635Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Val770Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Val86Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Ala139Val Uncertain significance Single submitter
-
LARS2 p.Ala195Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Ala231Glu Uncertain significance Single submitter
- LARS2 p.Ala301Thr Uncertain significance Single submitter
- LARS2 p.Ala387Asp Uncertain significance Single submitter
-
LARS2 p.Ala546Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Ala723Asp Uncertain significance Single submitter
-
LARS2 p.Ala762Asp
Uncertain significance
Single submitter
Perrault syndrome 4
- LARS2 p.Ala77Asp Uncertain significance Single submitter
-
LARS2 p.Ala780Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Ala895Ser Uncertain significance Single submitter
- LARS2 p.Arg163Cys Uncertain significance Single submitter
- LARS2 p.Arg163Ser Uncertain significance Single submitter
- LARS2 p.Arg228Cys Uncertain significance Single submitter
- LARS2 p.Arg419Gln Uncertain significance Single submitter
-
LARS2 p.Arg453Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Arg572Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Arg614Lys Uncertain significance Single submitter
- LARS2 p.Arg690Thr Uncertain significance Single submitter
-
LARS2 p.Arg701Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Arg701Gly Uncertain significance Single submitter
- LARS2 p.Arg861Gly Uncertain significance Single submitter
- LARS2 p.Arg861Trp Uncertain significance Single submitter
- LARS2 p.Arg893Ile Uncertain significance Single submitter
- LARS2 p.Asn143Ser Uncertain significance Single submitter
- LARS2 p.Asn20Ser Uncertain significance Single submitter
-
LARS2 p.Asn719Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Asp109Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Asp109Gly
Uncertain significance
Single submitter
primary ovarian failure
- LARS2 p.Asp180Glu Uncertain significance Single submitter
- LARS2 p.Asp371Asn Uncertain significance Single submitter
- LARS2 p.Asp421His Uncertain significance Single submitter
- LARS2 p.Asp555His Uncertain significance Single submitter
-
LARS2 p.Asp660Val
Uncertain significance
Single submitter
Perrault syndrome 4
-
LARS2 p.Asp779Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Cys464Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Gln186Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Gln269His Uncertain significance Single submitter
- LARS2 p.Gln428Leu Uncertain significance Single submitter
- LARS2 p.Gln857His Uncertain significance Single submitter
- LARS2 p.Glu329Gly Uncertain significance Single submitter
-
LARS2 p.Glu396Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Glu406Lys Uncertain significance Single submitter
-
LARS2 p.Glu868Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Gly267Asp Uncertain significance Single submitter
- LARS2 p.Gly35Arg Uncertain significance Single submitter
-
LARS2 p.Gly432Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Gly492Val Uncertain significance Single submitter
- LARS2 p.Gly601Arg Uncertain significance Single submitter
- LARS2 p.Gly647Arg Uncertain significance Single submitter
- LARS2 p.His271Tyr Uncertain significance Single submitter
- LARS2 p.His288Leu Uncertain significance Single submitter
-
LARS2 p.His322Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.His586Arg Uncertain significance Single submitter
-
LARS2 p.His813Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.His813Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Ile111Val Uncertain significance Single submitter
- LARS2 p.Ile174Val Uncertain significance Single submitter
- LARS2 p.Ile273Thr Uncertain significance Single submitter
-
LARS2 p.Ile314Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Ile33Thr Uncertain significance Single submitter
-
LARS2 p.Ile385Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Ile449Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Ile459Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Ile461Val Uncertain significance Single submitter
- LARS2 p.Ile558Val Uncertain significance Single submitter
- LARS2 p.Ile74Val Uncertain significance Single submitter
- LARS2 p.Ile771Phe Uncertain significance Single submitter
- LARS2 p.Leu256Ser Uncertain significance Single submitter
-
LARS2 p.Leu342Phe
Uncertain significance
Single submitter
Perrault syndrome 4
- LARS2 p.Leu351Phe Uncertain significance Single submitter
-
LARS2 p.Leu392Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Leu408Met Uncertain significance Single submitter
- LARS2 p.Leu53Trp Uncertain significance Single submitter
-
LARS2 p.Leu822Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Leu822Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Leu833Met Uncertain significance Single submitter
-
LARS2 p.Lys183Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Lys27Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Lys510Arg Uncertain significance Single submitter
-
LARS2 p.Lys727Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Lys886Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Met120Thr Uncertain significance Single submitter
-
LARS2 p.Met157Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Met350Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Met566Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Met841Val Uncertain significance Single submitter
- LARS2 p.Phe832Tyr Uncertain significance Single submitter
- LARS2 p.Pro465Leu Uncertain significance Single submitter
-
LARS2 p.Pro482Ser
Uncertain significance
Single submitter
Perrault syndrome 4
- LARS2 p.Pro493His Uncertain significance Single submitter
- LARS2 p.Pro714Ser Uncertain significance Single submitter
- LARS2 p.Pro93Ser Uncertain significance Single submitter
- LARS2 p.Ser325Gly Uncertain significance Single submitter
- LARS2 p.Ser42Asn Uncertain significance Single submitter
- LARS2 p.Ser734Cys Uncertain significance Single submitter
-
LARS2 p.Ser891Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Thr106Asn Uncertain significance Single submitter
- LARS2 p.Thr440Ala Uncertain significance Single submitter
- LARS2 p.Thr470Ala Uncertain significance Single submitter
-
LARS2 p.Thr519Met
Uncertain significance
Single submitter
Perrault syndrome 4
- LARS2 p.Thr522Ala Uncertain significance Single submitter
- LARS2 p.Thr534Ser Uncertain significance Single submitter
-
LARS2 p.Thr697Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Thr700Ala Uncertain significance Single submitter
- LARS2 p.Thr894Ala Uncertain significance Single submitter
-
LARS2 p.Trp455Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Trp501Gly Uncertain significance Single submitter
- LARS2 p.Tyr263Phe Uncertain significance Single submitter
- LARS2 p.Tyr454His Uncertain significance Single submitter
- LARS2 p.Tyr92Phe Uncertain significance Single submitter
- LARS2 p.Val277Met Uncertain significance Single submitter
-
LARS2 p.Val287Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Val462Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Val855Leu Uncertain significance Single submitter
Predictors split 61
The independent predictors disagree with each other — read with care.
-
LARS2 p.Arg419Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Arg605Cys Uncertain significance Multiple submitters
- LARS2 p.Asp580Tyr Uncertain significance Multiple submitters
-
LARS2 p.Cys177Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Glu60Asp Uncertain significance Multiple submitters
-
LARS2 p.Glu776Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Glu874Lys
Uncertain significance
Multiple submitters
Perrault syndrome 4
-
LARS2 p.Gly224Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Phe242Leu Uncertain significance Multiple submitters
-
LARS2 p.Pro807Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Ser764Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LARS2 p.Tyr299Cys Uncertain significance Multiple submitters
-
LARS2 p.Val122Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LARS2 p.Ala255Val
Conflicting
Single submitter
Perrault syndrome 4
-
LARS2 p.Ala548Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Ala595Asp
Uncertain significance
Single submitter
Perrault syndrome 4
-
LARS2 p.Arg113Gln
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Arg113Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Arg142Gly Uncertain significance Single submitter
- LARS2 p.Arg239Gly Uncertain significance Single submitter
-
LARS2 p.Arg431Trp
Uncertain significance
Single submitter
Perrault syndrome 4
- LARS2 p.Arg614Gly Likely benign Single submitter
-
LARS2 p.Arg701Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Asn124Ile
Pathogenic
Single submitter
Perrault syndrome 4
-
LARS2 p.Asn761Ser
Conflicting
Single submitter
Inborn genetic diseases
-
LARS2 p.Asp171Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Asp180Val Uncertain significance Single submitter
-
LARS2 p.Asp618Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Gln115Arg Uncertain significance Single submitter
- LARS2 p.Gln353Pro Uncertain significance Single submitter
- LARS2 p.Glu141Lys Uncertain significance Single submitter
- LARS2 p.Glu222Gly Likely benign Single submitter
-
LARS2 p.Glu413Lys
Conflicting
Single submitter
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- LARS2 p.Glu588Asp Uncertain significance Single submitter
- LARS2 p.Glu673Gly Uncertain significance Single submitter
- LARS2 p.Glu724Lys Uncertain significance Single submitter
- LARS2 p.Gly196Ala Uncertain significance Single submitter
- LARS2 p.Gly416Asp Uncertain significance Single submitter
- LARS2 p.His223Pro Uncertain significance Single submitter
-
LARS2 p.Leu717Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Met520Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Phe569Leu Uncertain significance Single submitter
- LARS2 p.Phe899Leu Uncertain significance Single submitter
- LARS2 p.Pro494Leu Uncertain significance Single submitter
-
LARS2 p.Pro494Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Pro507Arg
Conflicting
Single submitter
Rare genetic deafness
- LARS2 p.Pro892Leu Uncertain significance Single submitter
- LARS2 p.Ser505Phe Uncertain significance Single submitter
- LARS2 p.Ser751Pro Uncertain significance Single submitter
- LARS2 p.Ser873Gly Uncertain significance Single submitter
-
LARS2 p.Thr300Met
Conflicting
Single submitter
Perrault syndrome 4
- LARS2 p.Thr343Met Uncertain significance Single submitter
- LARS2 p.Thr44Met Uncertain significance Single submitter
-
LARS2 p.Thr517Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- LARS2 p.Thr661Ala Uncertain significance Single submitter
- LARS2 p.Thr661Met Uncertain significance Single submitter
- LARS2 p.Tyr307Asn Uncertain significance Single submitter
- LARS2 p.Val312Met Uncertain significance Single submitter
-
LARS2 p.Val648Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LARS2 p.Val870Phe
Uncertain significance
Single submitter
Perrault syndrome 4
- LARS2 p.Trp528Cys Uncertain significance No assertion criteria
All LARS2 variants
Pathogenic 27
- p.Asp371fs Multiple submitters Perrault syndrome 4
- p.Leu495fs Multiple submitters nonsyndromic genetic hearing loss
- p.Lys514fs Multiple submitters LARS2-Related Disorders
- c.1239+1G>A Single submitter Perrault syndrome 4
- c.1623-1G>T Single submitter Perrault syndrome 4
- p.Arg694Ter Single submitter
- p.Asn124Ile Single submitter Perrault syndrome 4 ⚠
- p.Asp864fs Single submitter Perrault syndrome 4
- p.Cys464Ter Single submitter
- p.Gln160Ter Single submitter
- p.Glu500Ter Single submitter Perrault syndrome 4
- p.Glu638Lys Single submitter Perrault syndrome 4
- p.Gly127fs Single submitter
- p.Ile360fs Single submitter Perrault syndrome 4
- p.Leu593fs Single submitter
- p.Lys49fs Single submitter
- p.Ser39fs Single submitter
- p.Thr740fs Single submitter Perrault syndrome 4
- p.Trp551Ter Single submitter
- p.Trp62Ter Single submitter
- p.Trp691fs Single submitter
- p.Tyr394Ter Single submitter
- p.Tyr92Ter Single submitter
- p.Ala430Val No assertion criteria hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ⚠
- p.Ala595fs No assertion criteria Perrault syndrome 4
- p.Leu14fs No assertion criteria Perrault syndrome 4
- p.Tyr557Cys No assertion criteria Perrault syndrome 4
Pathogenic/Likely pathogenic 10
- p.Ala430fs Multiple submitters
- p.Arg663Trp Multiple submitters Perrault syndrome 4
- p.Arg66Ter Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- p.Asn153His Multiple submitters Perrault syndrome
- p.Gln186Ter Multiple submitters
- p.Glu294Lys Multiple submitters Perrault syndrome 4 ⚠
- p.Met417Val Multiple submitters Perrault syndrome 4 ⚠
- p.Thr522Asn Multiple submitters LARS2-Related Disorders
- p.Thr629Met Multiple submitters nonsyndromic genetic hearing loss ⚠
- p.Trp63Ter Multiple submitters
Likely pathogenic 29
- c.235-2A>G Multiple submitters Perrault syndrome 4
- p.Arg228His Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- p.Asp438Gly Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ⚠
- p.Gln147Pro Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ⚠
- p.Ile398Thr Multiple submitters LARS2-Related Disorders ⚠
- p.Pro536Leu Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ⚠
- c.1123+1G>A Single submitter
- c.1524-1G>T Single submitter
- c.2215-1G>C Single submitter
- c.2293-1G>A Single submitter
- c.2293-2A>G Single submitter
- c.(?_2533 Single submitter Rare genetic deafness
- c.455+1G>C Single submitter
- c.456-2A>G Single submitter
- c.606+1G>A Single submitter
- p.Ala130Thr Single submitter hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- p.Arg103His Single submitter inborn mitochondrial myopathy
- p.Cys177Ter Single submitter LARS2-Related Disorders
- p.Gln755Ter Single submitter
- p.Gly416fs Single submitter
- p.Ile265Met Single submitter Perrault syndrome 4 ⚠
- p.Ile360Thr Single submitter Perrault syndrome 4
- p.Lys445fs Single submitter Perrault syndrome 4
- p.Ser372Ter Single submitter Perrault syndrome 4
- p.Thr700Ile Single submitter hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ⚠
- p.Trp207Ter Single submitter Perrault syndrome 4
- p.Trp691Ter Single submitter Perrault syndrome 4
- p.Tyr529Ter Single submitter
- p.Pro712Ser No assertion criteria hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ⚠
Conflicting classifications of pathogenicity 25
- p.Ala485Thr Single submitter Inborn genetic diseases ⚠
- c.2404+4C>T Single submitter
- p.Ala255Thr Single submitter Inborn genetic diseases ⚠
- p.Ala255Val Single submitter Perrault syndrome 4 ⚠
- p.Ala393Asp Single submitter Perrault syndrome 4 ⚠
- p.Arg113Gln Single submitter Inborn genetic diseases ⚠
- p.Arg451Trp Single submitter Perrault syndrome 4 ⚠
- p.Arg861Gln Single submitter Inborn genetic diseases ⚠
- p.Asn761Ser Single submitter Inborn genetic diseases ⚠
- p.Asp518Asn Single submitter inborn mitochondrial myopathy
- p.Asp649Glu Single submitter Inborn genetic diseases ⚠
- p.Gln858Lys Single submitter Inborn genetic diseases ⚠
- p.Glu413Lys Single submitter hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ⚠
- p.Glu50Lys Single submitter Inborn genetic diseases ⚠
- p.Gly368= Single submitter
- p.Ile461= Single submitter
- p.Ile753Val Single submitter Inborn genetic diseases ⚠
- p.Pro507Arg Single submitter Rare genetic deafness ⚠
- p.Ser169= Single submitter
- p.Ser315Leu Single submitter hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ⚠
- p.Ser72Phe Single submitter ⚠
- p.Ser764Leu Single submitter Inborn genetic diseases ⚠
- p.Thr297Ser Single submitter Inborn genetic diseases ⚠
- p.Thr300Met Single submitter Perrault syndrome 4 ⚠
- p.Val735Ile Single submitter Inborn genetic diseases ⚠
Benign 58
- c.1019-189G>A Multiple submitters
- c.1019-85C>G Multiple submitters
- c.1239+97G>A Multiple submitters
- c.1622+108C>T Multiple submitters
- c.1622+43G>A Multiple submitters
- c.1623-149C>T Multiple submitters
- c.1760+12T>C Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- c.2214+57C>T Multiple submitters
- c.2292+47G>C Multiple submitters
- c.2405-23G>A Multiple submitters
- c.2405-24C>T Multiple submitters
- c.364-223C>T Multiple submitters
- c.364-241A>G Multiple submitters
- c.516+138A>G Multiple submitters
- c.607-61C>A Multiple submitters
- c.751-87T>C Multiple submitters
- c.859-161T>C Multiple submitters
- c.859-201G>A Multiple submitters
- c.-109G>A Multiple submitters
- c.-21-76A>T Multiple submitters
- c.-36G>A Multiple submitters
- c.-88+73C>G Multiple submitters
- p.Ala485= Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- p.Ala723= Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- p.Ala849= Multiple submitters
- p.Glu831Asp Multiple submitters Perrault syndrome 4
- p.His324Gln Multiple submitters
- p.Leu351= Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- p.Leu53= Multiple submitters
- p.Leu8= Multiple submitters
- p.Lys727Asn Multiple submitters
- p.Pro377= Multiple submitters
- p.Ser708= Multiple submitters
- p.Thr661= Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- p.Val786= Multiple submitters hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- c.1123+196T>C Single submitter
- c.1123+218_1123+219insTTA Single submitter
- c.1123+220T>G Single submitter
- c.1123+221AAG[3] Single submitter
- c.1124-236A>G Single submitter
- c.1124-293A>T Single submitter
- c.1124-324C>T Single submitter
- c.1861+172del Single submitter
- c.1861+317C>A Single submitter
- c.2045-208G>C Single submitter
- c.2215-224C>T Single submitter
- c.2292+193del Single submitter
- c.2293-235C>A Single submitter
- c.234+294G>A Single submitter
- c.2404+22del Single submitter
- c.2404+265G>A Single submitter
- c.363+42C>T Single submitter
- c.455+222T>G Single submitter
- c.456-247T>C Single submitter
- c.456-57dup Single submitter
- c.516+17dup Single submitter
- c.516+262A>G Single submitter
- c.750+14T>C Single submitter
Benign/Likely benign 12
- c.1622+8G>A Multiple submitters
- c.1623-5dup Multiple submitters
- c.235-12G>A Multiple submitters
- p.Ala255= Multiple submitters
- p.Gln121Arg Multiple submitters
- p.Glu399= Multiple submitters
- p.Glu868Lys Multiple submitters Perrault syndrome 4
- p.Leu593= Multiple submitters
- p.Ser108= Multiple submitters
- p.Ser315= Multiple submitters
- p.Ser769= Multiple submitters
- p.Tyr85= Multiple submitters
Likely benign 241
- c.1019-218T>A Multiple submitters
- c.1123+11A>G Multiple submitters
- c.1123+8G>C Multiple submitters
- c.1622+7C>T Multiple submitters
- c.1861+7A>G Multiple submitters
- c.1862-12T>C Multiple submitters
- c.2293-50G>A Multiple submitters
- c.234+46A>G Multiple submitters
- c.235-7T>G Multiple submitters
- c.2405-11C>T Multiple submitters
- c.2405-24C>A Multiple submitters
- c.363+13G>A Multiple submitters
- c.517-4G>A Multiple submitters
- c.-22+127C>G Multiple submitters
- p.Ala231= Multiple submitters
- p.Ala305= Multiple submitters
- p.Arg663= Multiple submitters
- p.Asn646= Multiple submitters
- p.Asp254= Multiple submitters
- p.Asp438= Multiple submitters
- p.Asp746= Multiple submitters
- p.Asp903= Multiple submitters
- p.Cys464= Multiple submitters
- p.Gly432= Multiple submitters
- p.Gly492= Multiple submitters
- p.Gly658= Multiple submitters
- p.His223= Multiple submitters
- p.His280= Multiple submitters
- p.Ile484= Multiple submitters
- p.Leu594= Multiple submitters
- p.Lys244= Multiple submitters
- p.Lys445= Multiple submitters
- p.Lys73= Multiple submitters
- p.Pro807= Multiple submitters
- p.Pro830= Multiple submitters
- p.Pro892= Multiple submitters
- p.Ser622= Multiple submitters
- p.Ser737= Multiple submitters
- p.Ser873= Multiple submitters
- p.Thr44= Multiple submitters
- p.Thr519= Multiple submitters
- p.Thr629= Multiple submitters
- p.Thr636Met Multiple submitters
- p.Val336= Multiple submitters
- c.1018+12A>T Single submitter
- c.1018+14T>C Single submitter
- c.1018+18C>A Single submitter
- c.1018+19G>A Single submitter
- c.1019-12T>C Single submitter
- c.1019-17T>C Single submitter
- c.1123+12T>C Single submitter
- c.1123+19G>A Single submitter
- c.1123+7A>T Single submitter
- c.1124-14T>C Single submitter
- c.1124-195C>G Single submitter
- c.1124-32G>A Single submitter
- c.1124-8C>G Single submitter
- c.1239+161T>C Single submitter
- c.1239+20C>A Single submitter
- c.1239+34A>G Single submitter
- c.1239+51A>G Single submitter
- c.1240-288G>A Single submitter
- c.1240-5G>A Single submitter
- c.1240-7C>T Single submitter
- c.1240-9C>G Single submitter
- c.1523+93G>C Single submitter
- c.1524-8T>C Single submitter
- c.1622+18A>G Single submitter
- c.1622+9T>C Single submitter
- c.1623-10T>G Single submitter
- c.1623-176T>A Single submitter
- c.1760+18T>C Single submitter
- c.1760+19T>A Single submitter
- c.1760+234T>C Single submitter
- c.1760+8C>G Single submitter
- c.1761-19T>G Single submitter
- c.1761-20T>C Single submitter
- c.1861+11C>T Single submitter
- c.1861+14A>T Single submitter
- c.1861+17T>C Single submitter
- c.1861+193C>A Single submitter
- c.1862-13T>C Single submitter
- c.1862-16T>G Single submitter
- c.2044+13C>A Single submitter
- c.2044+14C>T Single submitter
- c.2044+14del Single submitter
- c.2044+18del Single submitter
- c.2044+284G>C Single submitter
- c.2045-12T>C Single submitter
- c.2045-36C>T Single submitter
- c.2214+13C>G Single submitter
- c.2214+18T>G Single submitter
- c.2214+8A>G Single submitter
- c.2214+9C>T Single submitter
- c.2215-12C>G Single submitter
- c.2215-136T>G Single submitter
- c.2215-78dup Single submitter
- c.2215-7C>T Single submitter
- c.2292+14C>A Single submitter
- c.2292+206C>T Single submitter
- c.2292+20T>C Single submitter
- c.2292+8_2292+9delinsTT Single submitter
- c.2292+8G>T Single submitter
- c.2292+98C>T Single submitter
- c.2293-13T>C Single submitter
- c.2293-19T>C Single submitter
- c.234+10C>T Single submitter
- c.234+18T>G Single submitter
- c.234+20C>T Single submitter
- c.235-19C>A Single submitter
- c.235-269del Single submitter
- c.235-340T>G Single submitter
- c.235-9C>G Single submitter
- c.235-9C>T Single submitter
- c.2404+173G>T Single submitter
- c.2404+9del Single submitter
- c.2405-13C>T Single submitter
- c.2405-16T>C Single submitter
- c.2405-9G>A Single submitter
- c.2532+20C>T Single submitter
- c.2532+7A>G Single submitter
- c.2533-12T>C Single submitter
- c.2533-17G>A Single submitter
- c.2533-6_2533-4del Single submitter
- c.2533-85C>G Single submitter
- c.363+14C>T Single submitter
- c.363+8C>T Single submitter
- c.455+13A>G Single submitter
- c.455+15G>C Single submitter
- c.455+17A>G Single submitter
- c.456-15C>G Single submitter
- c.456-16T>C Single submitter
- c.516+8A>C Single submitter
- c.517-221C>T Single submitter
- c.606+196A>G Single submitter
- c.607-291G>A Single submitter
- c.607-45dup Single submitter
- c.750+11G>A Single submitter
- c.750+11G>C Single submitter
- c.750+13C>T Single submitter
- c.750+308G>T Single submitter
- c.751-10A>C Single submitter
- c.751-12T>G Single submitter
- c.751-15C>T Single submitter
- c.751-16_751-14del Single submitter
- c.859-12T>C Single submitter
- c.-103C>G Single submitter
- c.-21-13C>T Single submitter
- c.-21-243T>C Single submitter
- c.-87-100C>A Single submitter
- c.-88+10C>G Single submitter
- c.-88+6C>A Single submitter
- c.*252C>T Single submitter
- p.Ala138= Single submitter
- p.Ala422= Single submitter
- p.Ala425= Single submitter
- p.Ala512= Single submitter
- p.Ala548= Single submitter
- p.Ala564= Single submitter
- p.Ala571= Single submitter
- p.Ala804= Single submitter
- p.Arg118= Single submitter
- p.Arg434= Single submitter
- p.Arg614Gly Single submitter ⚠
- p.Asn733= Single submitter
- p.Asp282= Single submitter
- p.Asp518= Single submitter
- p.Asp675= Single submitter
- p.Cys506= Single submitter
- p.Gln147= Single submitter
- p.Gln692= Single submitter
- p.Gln835= Single submitter
- p.Glu222Gly Single submitter ⚠
- p.Glu261= Single submitter
- p.Glu406= Single submitter
- p.Glu50= Single submitter
- p.Glu615= Single submitter
- p.Glu634= Single submitter
- p.Glu704= Single submitter
- p.Glu730Ala Single submitter
- p.Glu776= Single submitter
- p.Gly100= Single submitter
- p.Gly293= Single submitter
- p.Gly308= Single submitter
- p.Gly468= Single submitter
- p.Gly876= Single submitter
- p.His145= Single submitter
- p.His311= Single submitter
- p.His322= Single submitter
- p.His579= Single submitter
- p.His773= Single submitter
- p.His794= Single submitter
- p.His867= Single submitter
- p.Ile659= Single submitter
- p.Ile736= Single submitter
- p.Ile845= Single submitter
- p.Leu14= Single submitter
- p.Leu144= Single submitter
- p.Leu19= Single submitter
- p.Leu192= Single submitter
- p.Leu285= Single submitter
- p.Leu320= Single submitter
- p.Leu361= Single submitter
- p.Leu408= Single submitter
- p.Leu448= Single submitter
- p.Leu677= Single submitter
- p.Leu716= Single submitter
- p.Leu756= Single submitter
- p.Leu784= Single submitter
- p.Leu791= Single submitter
- p.Lys510= Single submitter
- p.Phe131= Single submitter
- p.Phe523= Single submitter
- p.Phe573= Single submitter
- p.Phe832= Single submitter
- p.Pro34= Single submitter
- p.Pro402= Single submitter
- p.Pro460= Single submitter
- p.Pro542= Single submitter
- p.Pro624= Single submitter
- p.Pro775= Single submitter
- p.Pro856= Single submitter
- p.Ser148= Single submitter
- p.Ser226= Single submitter
- p.Ser541= Single submitter Inborn genetic diseases
- p.Ser575= Single submitter
- p.Ser734= Single submitter
- p.Thr176= Single submitter
- p.Thr246= Single submitter
- p.Thr292= Single submitter
- p.Thr343= Single submitter
- p.Thr480= Single submitter
- p.Thr488= Single submitter
- p.Thr636= Single submitter
- p.Tyr105= Single submitter
- p.Tyr193= Single submitter
- p.Val140= Single submitter
- p.Val358= Single submitter
- p.Val739= Single submitter
- c.1523+10_1523+20del No assertion criteria LARS2-related disorder
- c.1523+9_1523+10insAGTT No assertion criteria LARS2-related disorder
Uncertain significance 218
- c.606+5G>A Multiple submitters
- p.Ala247Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala849Gly Multiple submitters ⚠
- p.Arg163His Multiple submitters Inborn genetic diseases ⚠
- p.Arg30Lys Multiple submitters ⚠
- p.Arg419Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg431Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg453Gln Multiple submitters Perrault syndrome ⚠
- p.Arg605Cys Multiple submitters ⚠
- p.Arg605His Multiple submitters Perrault syndrome 4 ⚠
- p.Arg694Gln Multiple submitters Inborn genetic diseases
- p.Asn846Asp Multiple submitters Inborn genetic diseases
- p.Asn847Ser Multiple submitters Perrault syndrome 4 ⚠
- p.Asp549Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp580Tyr Multiple submitters ⚠
- p.Cys177Ser Multiple submitters Inborn genetic diseases ⚠
- p.Cys811Phe Multiple submitters Inborn genetic diseases ⚠
- p.Glu194Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu60Asp Multiple submitters ⚠
- p.Glu776Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu874Lys Multiple submitters Perrault syndrome 4 ⚠
- p.Gly224Ser Multiple submitters Inborn genetic diseases ⚠
- p.His223Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile484Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu370Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu879Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys286Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys339= Multiple submitters
- p.Lys49Glu Multiple submitters ⚠
- p.Lys585Glu Multiple submitters ⚠
- p.Phe242Leu Multiple submitters ⚠
- p.Pro807Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro830Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro836Ala Multiple submitters ⚠
- p.Pro854Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser641Asn Multiple submitters Perrault syndrome 4 ⚠
- p.Ser760Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser764Trp Multiple submitters Inborn genetic diseases ⚠
- p.Ser80Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr343Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr379Ser Multiple submitters ⚠
- p.Tyr299Cys Multiple submitters ⚠
- p.Val122Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val359Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val439Met Multiple submitters Inborn genetic diseases ⚠
- p.Val565Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val623Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val635Met Multiple submitters Inborn genetic diseases ⚠
- p.Val770Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val86Met Multiple submitters Inborn genetic diseases ⚠
- c.1523+6G>T Single submitter
- c.2404+5G>A Single submitter
- c.2405-10G>A Single submitter
- c.2533-1G>A Single submitter
- c.858+1G>A Single submitter
- p.Ala139Val Single submitter ⚠
- p.Ala195Thr Single submitter Inborn genetic diseases ⚠
- p.Ala231Glu Single submitter ⚠
- p.Ala301Thr Single submitter ⚠
- p.Ala387Asp Single submitter ⚠
- p.Ala485Thr Single submitter
- p.Ala546Thr Single submitter Inborn genetic diseases ⚠
- p.Ala548Gly Single submitter Inborn genetic diseases ⚠
- p.Ala595Asp Single submitter Perrault syndrome 4 ⚠
- p.Ala723Asp Single submitter ⚠
- p.Ala762Asp Single submitter Perrault syndrome 4 ⚠
- p.Ala77Asp Single submitter ⚠
- p.Ala780Val Single submitter Inborn genetic diseases ⚠
- p.Ala895Ser Single submitter ⚠
- p.Arg113Trp Single submitter Inborn genetic diseases ⚠
- p.Arg142Gly Single submitter ⚠
- p.Arg158Gly Single submitter Inborn genetic diseases
- p.Arg163Cys Single submitter ⚠
- p.Arg163Ser Single submitter ⚠
- p.Arg228Cys Single submitter ⚠
- p.Arg239Gly Single submitter ⚠
- p.Arg419Gln Single submitter ⚠
- p.Arg431Trp Single submitter Perrault syndrome 4 ⚠
- p.Arg453Trp Single submitter Inborn genetic diseases ⚠
- p.Arg572Ser Single submitter Inborn genetic diseases ⚠
- p.Arg614Lys Single submitter ⚠
- p.Arg690Thr Single submitter ⚠
- p.Arg701Gln Single submitter Inborn genetic diseases ⚠
- p.Arg701Gly Single submitter ⚠
- p.Arg701Trp Single submitter Inborn genetic diseases ⚠
- p.Arg861Gly Single submitter ⚠
- p.Arg861Trp Single submitter ⚠
- p.Arg893Ile Single submitter ⚠
- p.Asn143Ser Single submitter ⚠
- p.Asn20Ser Single submitter ⚠
- p.Asn719Ser Single submitter Inborn genetic diseases ⚠
- p.Asp109Asn Single submitter Inborn genetic diseases ⚠
- p.Asp109Gly Single submitter primary ovarian failure ⚠
- p.Asp171Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp180Glu Single submitter ⚠
- p.Asp180Val Single submitter ⚠
- p.Asp371Asn Single submitter ⚠
- p.Asp421His Single submitter ⚠
- p.Asp555His Single submitter ⚠
- p.Asp618Asn Single submitter Inborn genetic diseases ⚠
- p.Asp660Val Single submitter Perrault syndrome 4 ⚠
- p.Asp779Glu Single submitter Inborn genetic diseases ⚠
- p.Cys464Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln115Arg Single submitter ⚠
- p.Gln186Arg Single submitter Inborn genetic diseases ⚠
- p.Gln269His Single submitter ⚠
- p.Gln353Pro Single submitter ⚠
- p.Gln428Leu Single submitter ⚠
- p.Gln857His Single submitter ⚠
- p.Gln881Ter Single submitter
- p.Glu141Lys Single submitter ⚠
- p.Glu329Gly Single submitter ⚠
- p.Glu396Asp Single submitter Inborn genetic diseases ⚠
- p.Glu406Lys Single submitter ⚠
- p.Glu588Asp Single submitter ⚠
- p.Glu673Gly Single submitter ⚠
- p.Glu724Lys Single submitter ⚠
- p.Glu868Asp Single submitter Inborn genetic diseases ⚠
- p.Gly196Ala Single submitter ⚠
- p.Gly267Asp Single submitter ⚠
- p.Gly35Arg Single submitter ⚠
- p.Gly416Asp Single submitter ⚠
- p.Gly432Trp Single submitter Inborn genetic diseases ⚠
- p.Gly45= Single submitter
- p.Gly492Val Single submitter ⚠
- p.Gly601Arg Single submitter ⚠
- p.Gly647Arg Single submitter ⚠
- p.His223Pro Single submitter ⚠
- p.His271Tyr Single submitter ⚠
- p.His288Leu Single submitter ⚠
- p.His322Arg Single submitter Inborn genetic diseases ⚠
- p.His586Arg Single submitter ⚠
- p.His813Arg Single submitter Inborn genetic diseases ⚠
- p.His813Gln Single submitter Inborn genetic diseases ⚠
- p.Ile111Thr Single submitter
- p.Ile111Val Single submitter ⚠
- p.Ile174Val Single submitter ⚠
- p.Ile190Asn Single submitter
- p.Ile273Thr Single submitter ⚠
- p.Ile314Leu Single submitter Inborn genetic diseases ⚠
- p.Ile33Thr Single submitter ⚠
- p.Ile385Met Single submitter Inborn genetic diseases ⚠
- p.Ile449Val Single submitter Inborn genetic diseases ⚠
- p.Ile459Thr Single submitter Inborn genetic diseases ⚠
- p.Ile461Val Single submitter ⚠
- p.Ile558Val Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Ile771Phe Single submitter ⚠
- p.Leu256Ser Single submitter ⚠
- p.Leu342Phe Single submitter Perrault syndrome 4 ⚠
- p.Leu351Phe Single submitter ⚠
- p.Leu392Val Single submitter Inborn genetic diseases ⚠
- p.Leu408Met Single submitter ⚠
- p.Leu481Val Single submitter Inborn genetic diseases
- p.Leu53Trp Single submitter ⚠
- p.Leu717Pro Single submitter Inborn genetic diseases ⚠
- p.Leu822Arg Single submitter Inborn genetic diseases ⚠
- p.Leu822Phe Single submitter Inborn genetic diseases ⚠
- p.Leu833Met Single submitter ⚠
- p.Lys183Arg Single submitter Inborn genetic diseases ⚠
- p.Lys27Asn Single submitter Inborn genetic diseases ⚠
- p.Lys510Arg Single submitter ⚠
- p.Lys727Glu Single submitter Inborn genetic diseases ⚠
- p.Lys886Arg Single submitter Inborn genetic diseases ⚠
- p.Met120Thr Single submitter ⚠
- p.Met157Thr Single submitter Inborn genetic diseases ⚠
- p.Met350Ile Single submitter Inborn genetic diseases ⚠
- p.Met520Leu Single submitter Inborn genetic diseases ⚠
- p.Met566Thr Single submitter Inborn genetic diseases ⚠
- p.Met757Leu Single submitter Perrault syndrome 4
- p.Met841Val Single submitter ⚠
- p.Phe569Leu Single submitter ⚠
- p.Phe832Tyr Single submitter ⚠
- p.Phe899Leu Single submitter ⚠
- p.Pro465Leu Single submitter ⚠
- p.Pro482Ser Single submitter Perrault syndrome 4 ⚠
- p.Pro493His Single submitter ⚠
- p.Pro494Leu Single submitter ⚠
- p.Pro494Ser Single submitter Inborn genetic diseases ⚠
- p.Pro714Ser Single submitter ⚠
- p.Pro892Leu Single submitter ⚠
- p.Pro93Ser Single submitter ⚠
- p.Ser325Gly Single submitter ⚠
- p.Ser42Asn Single submitter ⚠
- p.Ser505Phe Single submitter ⚠
- p.Ser734Cys Single submitter ⚠
- p.Ser751Pro Single submitter ⚠
- p.Ser873Gly Single submitter ⚠
- p.Ser891Thr Single submitter Inborn genetic diseases ⚠
- p.Thr106Asn Single submitter ⚠
- p.Thr106Ile Single submitter hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- p.Thr343Met Single submitter ⚠
- p.Thr440Ala Single submitter ⚠
- p.Thr44Met Single submitter ⚠
- p.Thr470Ala Single submitter ⚠
- p.Thr517Ile Single submitter Inborn genetic diseases ⚠
- p.Thr519Met Single submitter Perrault syndrome 4 ⚠
- p.Thr522Ala Single submitter ⚠
- p.Thr534Ser Single submitter ⚠
- p.Thr661Ala Single submitter ⚠
- p.Thr661Met Single submitter ⚠
- p.Thr697Ile Single submitter Inborn genetic diseases ⚠
- p.Thr700Ala Single submitter ⚠
- p.Thr894Ala Single submitter ⚠
- p.Trp455Gly Single submitter Inborn genetic diseases ⚠
- p.Trp501Gly Single submitter ⚠
- p.Tyr263Phe Single submitter ⚠
- p.Tyr307Asn Single submitter ⚠
- p.Tyr454His Single submitter ⚠
- p.Tyr92Phe Single submitter ⚠
- p.Val277Met Single submitter ⚠
- p.Val287Ile Single submitter Inborn genetic diseases ⚠
- p.Val312Met Single submitter ⚠
- p.Val462Ile Single submitter Inborn genetic diseases ⚠
- p.Val648Met Single submitter Inborn genetic diseases ⚠
- p.Val855Leu Single submitter ⚠
- p.Val870Phe Single submitter Perrault syndrome 4 ⚠
- p.Trp528Cys No assertion criteria ⚠