Sugi Variant

Sugi Variant/MARS1

MARS1 — 923 ClinVar variants

All ClinVar germline MARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 421 flagged for review →

5 Pathogenic · 3 Likely pathogenic · 38 Conflicting · 16 Benign · 20 Benign/Likely benign · 306 Likely benign · 535 Uncertain significance

Full MARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 421

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 16

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

Predictors lean, ClinVar uncertain 319

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 319

Predictors split 86

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

All MARS1 variants

Pathogenic 5

Likely pathogenic 3

  • p.Phe378fs Single submitter trichothiodystrophy 9, nonphotosensitive
  • p.Tyr516Cys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Tyr307Cys No assertion criteria severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Conflicting classifications of pathogenicity 38

  • c.1294-19C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1369-7A>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1540-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2204+10C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2204+4_2204+7del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2391+3A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2392-5dup Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.491-5C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala844Val Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Arg345Cys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg376Gln Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg598Cys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg598His Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg706Cys Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg713Gln Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asp605Asn Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Gln302fs Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Gln330Lys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Glu221Lys Single submitter MARS1-related disorder ⚠
  • p.Glu245Gly Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Glu463Ter Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Leu705fs Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Leu71fs Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Lys108Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Lys554_Asp555del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Phe370Leu Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Pro206Leu Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Pro220fs Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Pro249= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Pro329His Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Pro891Ser Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Thr227Ile Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Thr482Ile Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Thr636= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr797= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr797Ile Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Trp474Cys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Val685Ile Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠

Benign 16

  • c.109+112A>G Multiple submitters
  • c.110-26T>A Multiple submitters
  • c.1369-132G>C Multiple submitters
  • c.1369-69A>G Multiple submitters
  • c.1539+36A>G Multiple submitters
  • c.490+47G>A Multiple submitters
  • c.771-136T>C Multiple submitters
  • p.Ala844= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg737= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Lys500= Multiple submitters Charcot-Marie-Tooth disease
  • c.1539+7del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1967+18del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2392-7_2392-5del Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.415-5del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.490+20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Pro826= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Benign/Likely benign 20

  • c.109+18G>C Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1294-5C>T Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1369-11C>T Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1753+7A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.2204+11G>A Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2557-12C>G Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.280-14C>T Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.280-18A>G Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.490+14A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.887+17G>C Multiple submitters Charcot-Marie-Tooth disease
  • p.Ala393Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala704= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg301Cys Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg727Gln Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gly604= Multiple submitters Charcot-Marie-Tooth disease
  • p.Leu267= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Leu454= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Pro159= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser209Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Val563= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U

Likely benign 306

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

  • c.1092-18C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.110-10C>T Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1368+15C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.1369-14C>T Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1754-4C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.201-10C>T Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.201-13T>C Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.201-7T>G Multiple submitters
  • c.2391+14C>T Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2557-13C>A Multiple submitters Charcot-Marie-Tooth disease
  • c.2557-13C>G Multiple submitters Charcot-Marie-Tooth disease
  • c.2557-14C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.280-13C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.414+8G>A Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.414+9G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.415-13A>G Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.415-5C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.663+11G>A Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.663+8A>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.664-12C>T Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.771-15C>G Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.887+16C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.887+17G>A Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala22= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala837= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ala870= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala871= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Arg264= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Arg598= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Asn277= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Asn283= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asn807= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asp398= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Glu141= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Glu463= Multiple submitters
  • p.Glu508= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Glu627= Multiple submitters
  • p.Gly403= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.His123= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Leu166= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Leu169= Multiple submitters
  • p.Leu29= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu80Phe Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Lys827= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Phe665= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Pro14= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Pro210= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Pro476= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Pro49= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr305= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr383= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr44= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Thr496= Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Tyr759= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Val428= Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Val721= Multiple submitters Charcot-Marie-Tooth disease
  • p.Val831Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • c.109+16_109+21del Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.109+19G>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1091+15A>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1091+19G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1091+20G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1091+9C>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1092-6C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1092-9C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.110-13A>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.110-5A>C Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.110-5A>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.110-6C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1293+12G>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1293+16C>A Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1293+17C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1293+9A>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1293+9A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1294-13T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1294-4G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1294-4G>C Single submitter
  • c.1294-5C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1294-6T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1294-9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1369-10G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1369-6T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1539+10del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1539+12T>G Single submitter
  • c.1539+14_1539+16del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1539+14T>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1539+9C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1540-16T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1540-18C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1540-20T>C Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1540-6del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1635+11C>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1635+11C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1636-16A>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1636-17T>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1636-4C>T Single submitter
  • c.1636-7C>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1636-9T>C Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1753+16G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1754-11C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1754-15T>C Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1754-17C>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1754-6G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1967+11G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1967+11G>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1967+12T>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1967+15G>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1968-10C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1968-15C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1968-19T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1968-20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1968-6A>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.200+11G>A Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.200+18G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.200+7A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.201-16C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.201-20G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2099+12A>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2099+13C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2099+18_2099+19del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2099+6dup Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2099+9C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2100-4C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2100-8C>T Single submitter
  • c.2204+14G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2204+19T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2205-10T>C Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2205-11_2205-9del Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2205-16G>A Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2205-17T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2205-18A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2391+13G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2391+16A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2392-12C>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2392-6_2392-5del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2392-8T>A Single submitter Charcot-Marie-Tooth disease
  • c.2463+17C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2464-12G>A Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2464-13T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2464-18A>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2464-6C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2464-9_2464-7del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2556+19del Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2556+9C>T Single submitter
  • c.2557-11C>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.2557-12C>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2557-15C>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2557-8T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.279+12G>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.279+17G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.279+18G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.280-12C>A Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.280-19C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.414+11T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.414+15G>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.414+19T>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.415-14T>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.415-5C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.415-9C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.490+13C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.490+19A>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.490+9T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.491-10A>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.491-15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.491-5C>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.663+14C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.663+19C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.663+20C>T Single submitter Charcot-Marie-Tooth disease
  • c.663+9T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.664-5T>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.664-5T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.770+11A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.770+17C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.770+19T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.771-10T>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.771-13C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.887+12T>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.887+15T>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.887+16C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.887+17G>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.888-14A>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.888-17A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.888-5T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.888-7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Ala144= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala291= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Ala317= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala322= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Ala478= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Ala614= Single submitter
  • p.Ala64= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala733= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala745= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala765= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala874= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala893= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg184= Single submitter
  • p.Arg23= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg388= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Arg460= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg483Cys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg493= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg713= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asn426= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asn784= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asn867= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asp520= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Asp591= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asp637= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Cys333= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gln192= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Gln205= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gln694= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gln77= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Glu222= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu223= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu324= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu390= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu411= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu572= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu585= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu671= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu732= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Glu858= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu91= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gly110= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gly24= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gly599= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gly666= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gly667= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gly8= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.His693= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ile30= Single submitter
  • p.Ile349= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ile353= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Ile365= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Ile780= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu100= Single submitter
  • p.Leu121= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu155= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu16Val Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Leu289= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu3= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu306= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu450= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu465= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu526= Single submitter
  • p.Leu548= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu577= Single submitter Charcot-Marie-Tooth disease
  • p.Leu638= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu639= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu681= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu682= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu696= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu705= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Leu744= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu752= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Leu771= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu786= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu859= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu877= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu879= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Lys432= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Lys593= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Lys698= Single submitter
  • p.Lys875= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Lys898= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Phe4= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Phe400= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Phe407= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Phe42= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Phe60= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Pro10= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Pro206= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Pro41= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Pro790= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ser229= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ser246= Single submitter
  • p.Ser440= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ser446= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ser527= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ser631= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr178= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr227= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr320= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr610= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Thr824= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Tyr161= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Tyr274= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Tyr336= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Tyr516= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Tyr58= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Val105= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Val384= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Val40= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Val404= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Val437= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Val444= Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Val48= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Val602= Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Uncertain significance 535

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

  • c.1091+2dup Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1293+5G>A Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1967+3A>G Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.-18C>T Multiple submitters hereditary spastic paraplegia
  • p.Ala160Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala211Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala261Val Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala397Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala765Val Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ala870fs Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala871Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala874Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala89Val Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg118Gln Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg118Trp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg199Trp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg299Cys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg301His Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg345His Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg394Cys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg394His Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Arg414Gln Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg45Trp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg483His Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg487Gln Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg487Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Arg497Gln Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg618Cys Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg625Leu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg625Trp Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg680His Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg702Trp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg706His Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg727Trp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg737Trp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg816Cys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg816His Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Arg857Gln Multiple submitters ⚠
  • p.Arg857Ter Multiple submitters trichothiodystrophy 9, nonphotosensitive
  • p.Asn218Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asn426Lys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asn477Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asn642Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asn649Asp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asn716Asp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp145Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asp292Gly Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp334Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asp368Tyr Multiple submitters trichothiodystrophy 9, nonphotosensitive ⚠
  • p.Asp591Val Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp7del Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Cys441Arg Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln193Glu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln717Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Gln794Arg Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln841Glu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln93Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Glu111Gln Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Glu222Lys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Glu231Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Glu27Lys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Glu429Lys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Glu463Gly Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Glu76Asp Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gly107Ser Multiple submitters ⚠
  • p.Gly11Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gly24Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Gly24Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gly415Val Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gly599Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Gly888Arg Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.His340Arg Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ile124Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ile146Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ile233Met Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ile285Phe Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ile285Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ile332Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ile338Leu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ile338Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ile339Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ile523Val Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ile711Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ile719Met Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ile719Val Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Leu100Val Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Leu103Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Leu228Pro Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Leu622fs Multiple submitters MARS1-related disorder
  • p.Leu696Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Leu883Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Lys596fs Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Lys898Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Met659Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Met755Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Phe551Leu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Phe60Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Pro154Thr Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Pro249Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Pro329Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Pro433Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Pro476His Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Pro558His Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Pro775Ala Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Pro826Leu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ser127Gly Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ser350Leu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ser446Leu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ser447Asn Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ser484Pro Multiple submitters trichothiodystrophy 9, nonphotosensitive ⚠
  • p.Ser631Ile Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ser764Gly Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ser779Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Thr122Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Thr178Ile Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Thr217Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Thr32Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Thr358Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Thr366Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Thr610Met Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Thr675Ser Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Thr762Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Trp536Cys Multiple submitters ⚠
  • p.Tyr274Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2U
  • p.Tyr314Cys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Tyr410Cys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Tyr718Cys Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Val257Ala Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Val404Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Val444Ala Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Val505Ile Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Val50Ile Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Val578Ile Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Val5Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Val746Leu Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Val830Ala Multiple submitters severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • c.109+7GTGCTG[3] Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1091+3A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1091+4A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1091+4A>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1092-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1092-6C>G Single submitter
  • c.1368+3A>T Single submitter Charcot-Marie-Tooth disease
  • c.1369-6_1369-2del Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1531_1539+14del Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1539+3A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1635+1G>A Single submitter
  • c.1635+2T>C Single submitter
  • c.1635+4A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1636-3T>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1754-12T>A Single submitter
  • c.1754-1G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.1754-1G>C Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.1968-1G>A Single submitter
  • c.1968-5_1968-2del Single submitter
  • c.1968-8C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.200+4A>G Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.200+4A>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.201-14C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.201-3C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2100-19C>G Single submitter
  • c.2100-1G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2204+1G>T Single submitter
  • c.2204+3A>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2204+3A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2204+6T>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2204+9G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2205-2_2220delinsC Single submitter
  • c.2391+1G>C Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2464-2A>C Single submitter
  • c.2464-7T>C Single submitter
  • c.2556+1G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2556+3A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2556+3A>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2556+4T>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.2556+5G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.279+5G>A Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.280-1G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.414+1G>T Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.415-5C>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.491-3C>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.770+18_770+19del Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • c.887+1G>A Single submitter
  • c.887+4G>T Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • c.887+5A>G Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala120Val Single submitter ⚠
  • p.Ala160Ser Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala185Val Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala197Val Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala215Thr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala239Thr Single submitter ⚠
  • p.Ala322Val Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala478Thr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala571Thr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala657Gly Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala704Gly Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala738Val Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala749Pro Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala749Thr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala749Val Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala750Pro Single submitter ⚠
  • p.Ala864Thr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala870Val Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Ala884Thr Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala893Thr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala893Val Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala89Thr Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Ala95Pro Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Ala99Pro Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Ala99Ser Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg118Gly Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg119Lys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg130Pro Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg184Ter Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Arg199Gln Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg214Lys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg23Gln Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg23Gly Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg23Leu Single submitter ⚠
  • p.Arg251Gln Single submitter ⚠
  • p.Arg251Leu Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg251Trp Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg25Gly Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg296Trp Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Arg299His Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg2Thr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg376Ter Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg388Gln Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg388Ter Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg399Cys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg439Gln Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg439Pro Single submitter ⚠
  • p.Arg45Gln Single submitter ⚠
  • p.Arg460Gln Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg460Ter Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg483Ser Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Arg493Cys Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Arg497Ter Single submitter Charcot-Marie-Tooth disease axonal type 2U
  • p.Arg618His Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg618Leu Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg625Gln Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg67Gln Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Arg680Cys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Arg700Trp Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Arg713Ter Single submitter
  • p.Arg737Gln Single submitter ⚠
  • p.Arg816Gly Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asn218Asp Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asn255Ser Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asn265His Single submitter ⚠
  • p.Asn304Thr Single submitter ⚠
  • p.Asn348Ile Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asn574Thr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asn747Lys Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asn82His Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp292Asn Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp292His Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asp342Asn Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asp37Asn Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp382Ala Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asp512fs Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asp512Gly Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asp54Asn Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp555Tyr Single submitter ⚠
  • p.Asp573Asn Single submitter ⚠
  • p.Asp637fs Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Asp678Gly Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Asp734Asn Single submitter ⚠
  • p.Asp808Tyr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp847Ala Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Asp847fs Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Cys133Gly Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Cys133Tyr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Cys389Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Cys38fs Single submitter
  • p.Cys38Phe Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Cys421Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Cys494Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Cys778Tyr Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln174Ter Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gln330Pro Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln445Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln479Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln52Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln717Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln768Glu Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln772Ter Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gln794Lys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln803Pro Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Gln821Arg Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln821His Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Gln840Ter Single submitter
  • p.Gln843Lys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Glu139Gly Single submitter ⚠
  • p.Glu141fs Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Glu141Val Single submitter ⚠
  • p.Glu212Asp Single submitter Charcot-Marie-Tooth disease axonal type 2U ⚠
  • p.Glu219Asp Single submitter ⚠
  • p.Glu223Lys Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ⚠
  • p.Glu232_Ile233insLeuAlaThrLeuSerGluGluGlu Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency