Sugi Variant

Sugi Variant/NPR2

NPR2 — 750 ClinVar variants

All ClinVar germline NPR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 378 flagged for review →

56 Pathogenic · 8 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 34 Conflicting · 17 Benign · 7 Benign/Likely benign · 174 Likely benign · 415 Uncertain significance

Full NPR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 378

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 278

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 278

Predictors split 84

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

All NPR2 variants

Pathogenic 56

  • p.Ala843fs Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Arg299Ter Multiple submitters NPR2-related disorder
  • p.Arg363Ter Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Arg388Gln Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Arg767Ter Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Arg921Ter Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Gln201Ter Multiple submitters short stature with nonspecific skeletal abnormalities
  • c.2986+2T>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala22fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala585_Cys586insTer Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg205Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg371Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg388Ter Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Arg601Ser Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg669Ter Single submitter short stature with nonspecific skeletal abnormalities 1
  • p.Arg828fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg949Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg989Gln Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg989Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asp982Asn Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Cys439fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Cys593Ter Single submitter NPR2-related disorder
  • p.Cys768Arg Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln241Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln282Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln406fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln715Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln781Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Glu567Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly521Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly722fs Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Gly849fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu119fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Met913fs Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Phe857fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser504Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser877fs Single submitter short stature with nonspecific skeletal abnormalities
  • p.Trp419Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Trp420Ter Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Trp42fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Tyr170fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Tyr225Cys Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Tyr250fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Tyr808Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Val187Asp Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Val652fs Single submitter Monogenic short statue
  • p.Ala488Pro No assertion criteria tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Arg655Cys No assertion criteria tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Asp176Glu No assertion criteria acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.His948fs No assertion criteria short stature with nonspecific skeletal abnormalities
  • p.Leu527Phe No assertion criteria Disproportionate short stature ⚠
  • p.Met482_Leu483del No assertion criteria tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Ser5Ter No assertion criteria acromesomelic dysplasia 1, Maroteaux type
  • p.Ser76Pro No assertion criteria short stature with nonspecific skeletal abnormalities
  • p.Trp115Gly No assertion criteria acromesomelic dysplasia 1, Maroteaux type
  • p.Val883Met No assertion criteria tall stature-scoliosis-macrodactyly of the great toes syndrome

Pathogenic/Likely pathogenic 8

  • c.1887+2T>A Multiple submitters short stature with nonspecific skeletal abnormalities 1
  • p.Arg479Ter Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Arg741Ter Multiple submitters NPR2-related disorder
  • p.Arg749Trp Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Arg989Leu Multiple submitters NPR2-related disorder
  • p.Gln605Ter Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Ile364fs Multiple submitters NPR2-related disorder
  • p.Thr907Met Multiple submitters NPR2-related disorder

Likely pathogenic 39

  • c.1436+1G>T Multiple submitters NPR2-related disorder
  • p.Arg957Cys Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.1123+1G>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1557+1G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1558-3_1558del Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1710+3A>G Single submitter Short stature
  • c.2372+1G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2713-2A>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2887+1G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2986+2T>A Single submitter Monogenic short statue
  • c.668-1G>C Single submitter Inborn genetic diseases
  • c.987+1G>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg1032Ter Single submitter
  • p.Arg165fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg572Ter Single submitter
  • p.Arg957His Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asp706His Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asp982Val Single submitter short stature with nonspecific skeletal abnormalities 1
  • p.Gln756Ter Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Gly228fs Single submitter NPR2-related disorder
  • p.Gly378Arg Single submitter
  • p.His552fs Single submitter short stature with nonspecific skeletal abnormalities
  • p.Ile465fs Single submitter
  • p.Ile837fs Single submitter NPR2-related disorder
  • p.Leu348Pro Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Met469fs Single submitter short stature with nonspecific skeletal abnormalities 1
  • p.Pro47Leu Single submitter
  • p.Pro689Ser Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Pro93Thr Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser526Ter Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser693fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Thr661fs Single submitter
  • p.Trp617fs Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Val657fs Single submitter
  • p.Gln417Lys No assertion criteria short stature with nonspecific skeletal abnormalities ⚠
  • p.Glu260Val No assertion criteria Growth delay
  • p.Gly100Ser No assertion criteria acromesomelic dysplasia 1, Maroteaux type
  • p.Ser721fs No assertion criteria Growth delay
  • p.Tyr344Ter No assertion criteria epilepsy, familial focal, with variable foci 2

Conflicting classifications of pathogenicity 34

  • c.1218+4A>G Single submitter short stature with nonspecific skeletal abnormalities
  • c.1351+10T>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1711-9T>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1887+11C>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2519+15C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.3078+16G>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.988-7C>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala22Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala409Thr Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg1020Trp Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg1040Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg110Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg280Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg776Gln Single submitter NPR2-related disorder ⚠
  • p.Arg776Trp Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg787Trp Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg819Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg932Cys Single submitter epilepsy, familial focal, with variable foci 2
  • p.Gly1029= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly150Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly221Arg Single submitter NPR2-related disorder ⚠
  • p.His642Tyr Single submitter NPR2-related disorder ⚠
  • p.Ile217Phe Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile558Thr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile908Thr Single submitter Monogenic short statue ⚠
  • p.Leu233= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Phe779= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Pro32Thr Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Thr820= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Thr907= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Tyr524= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Tyr708Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Val30= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Val548= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome

Benign 17

Benign/Likely benign 7

  • c.1633-10C>A Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.2047+11C>T Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.2519+9T>C Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.2643+10A>G Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.668-4C>A Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.873+13C>A Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Glu305= Multiple submitters acromesomelic dysplasia 1, Maroteaux type

Likely benign 174

  • c.2372+18G>A Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.2520-19C>T Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.2712+16G>C Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.2887+8T>C Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Asn385= Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Gln353= Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Gly21= Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Gly664= Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.His114= Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Met702Lys Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Ser518= Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.1123+13G>A Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.1123+18A>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1124-11T>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1124-18C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1124-20G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1124-7G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1219-5T>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1352-13A>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1352-17C>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1436+9T>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1557+17G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1558-18T>C Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.1558-6C>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1632+10C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1632+15G>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1633-13C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1633-20C>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1710+15A>G Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.1710+16_1710+19dup Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1711-15G>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1815+14G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1815+3G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1888-15A>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2047+12C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2048-11C>T Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.2048-15G>C Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.2048-16G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2372+14A>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2372+7G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2373-17T>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2519+14C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2520-18G>A Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.2520-7_2520-6del Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2643+20G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2643+7G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2643+7G>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2644-11A>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2644-14T>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2712+12G>A Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.2712+9T>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2713-11C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2887+18del Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2887+19C>T Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.2888-13T>C Single submitter
  • c.2986+10T>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2987-11A>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2987-12C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.3078+10G>T Single submitter
  • c.3078+14A>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.3078+17G>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.3079-10C>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.667+11C>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.668-12A>G Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.873+10G>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.873+8T>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.874-9C>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.987+10T>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.987+10T>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.987+9A>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.988-4C>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala12= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala122= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Ala213= Single submitter
  • p.Ala28= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala285= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala409= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala41= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala440= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Ala460= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala538= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala809= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Ala872= Single submitter
  • p.Ala996= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg268= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg299= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Arg44= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Arg495= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Arg506His Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg776= Single submitter
  • p.Arg804= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg945= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asn195= Single submitter
  • p.Asn539= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Asp320= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asp391= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asp444= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Asp706= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asp86= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Asp92= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asp94= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Cys227= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Cys439= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln212= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Gln417= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln756= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln781= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Gln845= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Glu346= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Glu792= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly265= Single submitter
  • p.Gly322= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly403= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly462= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly471= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly525= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly57= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly73= Single submitter
  • p.Gly793= Single submitter
  • p.Gly917= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.His157= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.His159= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.His926= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ile184= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ile333= Single submitter
  • p.Ile550= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ile592= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ile862= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu1012= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu119= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Leu294= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu3= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu31= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Leu342= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Leu456= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu51= Single submitter
  • p.Leu517= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu692= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu6Ile Single submitter ⚠
  • p.Leu761= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu798= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Leu802= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu803= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu824= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu918= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Phe182= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Phe253= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Phe405= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Phe543= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Phe619= Single submitter
  • p.Pro118= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Pro20= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Pro61= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Pro81= Single submitter
  • p.Ser127= Single submitter
  • p.Ser130= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser412= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser526= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser622= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser641= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ser841= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Ser859= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Thr1005= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Thr297= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Thr421= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Thr455= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Thr878= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Tyr103= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Tyr1034= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Tyr977= Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Val652= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Val707= Single submitter
  • p.Val965= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Lys569= No assertion criteria NPR2-related disorder

Uncertain significance 415

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

  • c.1437-3C>T Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.2519+3G>A Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Ala190Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala22Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala48Ser Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala511= Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Ala774Val Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg141His Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg165Cys Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg165His Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg242Lys Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg263Cys Multiple submitters NPR2-related disorder ⚠
  • p.Arg268His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg272Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg272Trp Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg278His Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg280Gly Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg312His Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg318Gln Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg318Trp Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg358Trp Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg363Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg423Trp Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg495His Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg557His Multiple submitters short stature with nonspecific skeletal abnormalities ⚠
  • p.Arg562Trp Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg58Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg601Cys Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg601His Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg601Leu Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg620His Multiple submitters short stature with nonspecific skeletal abnormalities 1 ⚠
  • p.Arg65Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg745Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg749Gln Multiple submitters short stature with nonspecific skeletal abnormalities ⚠
  • p.Arg754Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg788Cys Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Arg788His Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg804His Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg848Gln Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg945Cys Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg947Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg947His Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Asn161Ser Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asn247Ser Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asn277Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn546Tyr Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Asn810Ser Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp772Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Cys227Trp Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Cys650Gly Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Glu359Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu609Lys Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly1029Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly322Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly375Ser Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly57Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly780Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly784Asp Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.His135Arg Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.His234Arg Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.His552Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His678Arg Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Leu456Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu691Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Lys683Asn Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Met232Val Multiple submitters tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Met469Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Pro438Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro975Thr Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ser641Leu Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ser644Asn Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ser751Asn Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ser877Gly Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Thr357Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr421Met Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Thr580Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr136Phe Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Tyr250Cys Multiple submitters acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Tyr373His Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • p.Val882Ile Multiple submitters acromesomelic dysplasia 1, Maroteaux type
  • c.1123+5T>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1219-3C>T Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.1351+8T>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1352-12T>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1557+6C>T Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.1816-13T>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.1888-3C>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2047+3G>A Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • c.2519+3_2519+4insGGACCAAATCCTACCCCAGTG Single submitter
  • c.2519+3G>C Single submitter
  • c.2520-3T>C Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.2888-18A>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.873+3A>G Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.988-6C>A Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.*15del Single submitter
  • c.*18G>C Single submitter
  • c.*270A>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • c.*2C>T Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala112= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala164Gly Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala213Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala285Thr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala289Asp Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala289Pro Single submitter ⚠
  • p.Ala289Val Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ala2Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala317Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala396Pro Single submitter ⚠
  • p.Ala408Glu Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala408Val Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Ala488Thr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala48Thr Single submitter ⚠
  • p.Ala511Val Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Ala52Asp Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala52Thr Single submitter ⚠
  • p.Ala530Asp Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala585Thr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala672Val Single submitter ⚠
  • p.Ala679Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala688Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala718Val Single submitter Inborn genetic diseases ⚠
  • p.Ala74Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala854Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala911Asp Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala911Thr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala911Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala934Thr Single submitter ⚠
  • p.Ala936Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ala996Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg1040Leu Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg1040Trp Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg110His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg137Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg141Cys Single submitter ⚠
  • p.Arg18His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg218Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg218Gly Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg218Trp Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg222Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg222Ser Single submitter
  • p.Arg23Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg242Gly Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg263His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg263Pro Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg268Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg278Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg280Trp Single submitter ⚠
  • p.Arg299Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg312Cys Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Arg358Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg371Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg372Ser Single submitter ⚠
  • p.Arg423Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg493Cys Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg493His Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg495Leu Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg506Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg514Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg514His Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg562Gln Single submitter ⚠
  • p.Arg581Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg65Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg65Pro Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg669Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg720Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg720His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg754Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg767Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg787Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg828His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg848Trp Single submitter ⚠
  • p.Arg921Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg921Pro Single submitter ⚠
  • p.Arg925Cys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg932His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg945Gly Single submitter ⚠
  • p.Arg947Pro Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Arg976Gly Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Arg976His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asn247Asp Single submitter ⚠
  • p.Asn303Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn35Asp Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asn386Ser Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Asn539Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn649Ile Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asn649Lys Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Asn649Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asn742Lys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asn922His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp1007Gly Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp1010Gly Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp1022Asn Single submitter Inborn genetic diseases
  • p.Asp1022Tyr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp276Asn Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp276His Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp387Gly Single submitter ⚠
  • p.Asp391Ala Single submitter ⚠
  • p.Asp442Asn Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp63Ala Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Asp676Glu Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp858Asn Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Asp894Ala Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Asp901Gly Single submitter ⚠
  • p.Asp910Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp94Asn Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Cys892Phe Single submitter ⚠
  • p.Cys966Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Cys978Tyr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gln212Arg Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gln275Arg Single submitter ⚠
  • p.Gln275Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln417Glu Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gln563Arg Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gln563Glu Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gln744_Arg745= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln771Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln781His Single submitter ⚠
  • p.Gln781Lys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gln821= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gln821Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln953Arg Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Gln995His Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Glu189Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu211Lys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Glu211Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Glu288Ala Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Glu288Gly Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Glu308Gln Single submitter ⚠
  • p.Glu33Ala Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Glu415Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu70Lys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Glu760Gly Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome
  • p.Glu766Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Glu775Lys Single submitter
  • p.Glu792Gly Single submitter
  • p.Glu817Ala Single submitter ⚠
  • p.Glu817Lys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Glu844Lys Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly1021= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly1038del Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Gly1038Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly158Arg Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Gly193Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly209Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly221Glu Single submitter ⚠
  • p.Gly228Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly370Arg Single submitter Inborn genetic diseases
  • p.Gly375Arg Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly430Glu Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly464Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly521Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly525Arg Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Gly525Ser Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Gly541Ala Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly541Cys Single submitter ⚠
  • p.Gly541Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly722Asp Single submitter ⚠
  • p.Gly793Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Gly963Arg Single submitter ⚠
  • p.Gly963Glu Single submitter ⚠
  • p.Gly971Val Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Gly994Ser Single submitter ⚠
  • p.His159Gln Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.His374= Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.His642Arg Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.His678Tyr Single submitter Inborn genetic diseases ⚠
  • p.His926Arg Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.His948Pro Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.His961Leu Single submitter ⚠
  • p.Ile223Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile296Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile315Met Single submitter NPR2-related disorder ⚠
  • p.Ile352Thr Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Ile458Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile458Val Single submitter Inborn genetic diseases ⚠
  • p.Ile468Met Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Ile468Ser Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile468Val Single submitter Inborn genetic diseases ⚠
  • p.Ile477Val Single submitter Inborn genetic diseases ⚠
  • p.Ile592Thr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile594Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile607Phe Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile613Met Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Ile717Thr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile736Phe Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Ile782Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile786Leu Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Ile786Phe Single submitter Inborn genetic diseases
  • p.Ile797Thr Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Ile862Val Single submitter Inborn genetic diseases ⚠
  • p.Ile867Thr Single submitter ⚠
  • p.Ile896Val Single submitter ⚠
  • p.Leu262Ile Single submitter ⚠
  • p.Leu313Gly Single submitter acromesomelic dysplasia 1, Maroteaux type
  • p.Leu314Gln Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Leu362Pro Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Leu394Phe Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠
  • p.Leu400Val Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Leu443Phe Single submitter acromesomelic dysplasia 1, Maroteaux type ⚠
  • p.Leu499Pro Single submitter tall stature-scoliosis-macrodactyly of the great toes syndrome ⚠