LFNG — 325 ClinVar variants
All ClinVar germline LFNG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
6 Pathogenic · 5 Likely pathogenic · 9 Conflicting · 27 Benign · 6 Benign/Likely benign · 146 Likely benign · 126 Uncertain significance
Full LFNG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LFNG p.Lys123Arg
Conflicting
Single submitter
Inborn genetic diseases
-
LFNG p.Val225Ile
Conflicting
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Val344Ile
Conflicting
Single submitter
Inborn genetic diseases
-
LFNG p.Val346Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LFNG p.Ala95Val
Uncertain significance
Multiple submitters
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ala99Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Arg246His
Uncertain significance
Multiple submitters
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg4Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Asp231Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Glu190Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Glu76Lys
Uncertain significance
Multiple submitters
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Gly89Val
Uncertain significance
Multiple submitters
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro112Thr
Uncertain significance
Multiple submitters
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro34Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Pro53Ala
Uncertain significance
Multiple submitters
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro91Ser
Uncertain significance
Multiple submitters
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro96Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Ser79Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Thr220Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Thr82Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Ala14Gly
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ala16Thr
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ala176Val
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ala215Thr
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ala299Thr
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ala46Val
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ala52Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ala54Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ala59Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ala88Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ala88Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ala99Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg174Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg174His
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg174Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg187His
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg208Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg208Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg208Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg212Gln
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg221Trp
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg263Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg263Leu
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg286Trp
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg375His
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg4Gly
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg97Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Asn317Lys
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Asp100Val
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Asp186Gly
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Asp355Asn
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Glu190Lys
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Glu238Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Glu242Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Glu338Val
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Gly101Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Gly192Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Gly256Ser
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Gly275Arg
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Gly309Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Gly335Ser
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Gly38Cys
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Gly47Asp
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
- LFNG p.Gly89Asp Uncertain significance Single submitter
-
LFNG p.His102Gln
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.His159Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.His72Tyr
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ile189Thr
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Leu13Val
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Leu305Phe
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Lys123Asn
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Lys340Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Met336Ile
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro103Ala
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro103Leu
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro105Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Pro218Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Pro271Leu
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro304His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Pro31Leu
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro53Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- LFNG p.Pro55Thr Uncertain significance Single submitter
-
LFNG p.Pro92Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ser169Leu
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ser169Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ser351Leu
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ser44Ile
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Ser73Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Thr145Lys
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Thr160Met
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
- LFNG p.Thr281Lys Uncertain significance Single submitter
- LFNG p.Thr370Ala Uncertain significance Single submitter
-
LFNG p.Thr82Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Val183Met
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Val23Leu
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
- LFNG p.Glu154Lys Uncertain significance No assertion criteria
-
LFNG p.Thr254Met
Uncertain significance
No assertion criteria
spondylocostal dysostosis 3, autosomal recessive
Predictors split 18
The independent predictors disagree with each other — read with care.
-
LFNG p.Arg187Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Arg239Trp
Uncertain significance
Multiple submitters
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg341Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LFNG p.Ala14Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ala170Thr
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg193Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg239Gln
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg263His
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg284Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Arg341Trp
Conflicting
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg375Cys
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Arg97Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Gly276Arg
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Leu207Gln
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Leu81Phe
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
-
LFNG p.Pro304Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Pro374Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LFNG p.Ser270Arg
Uncertain significance
Single submitter
spondylocostal dysostosis 3, autosomal recessive
All LFNG variants
Pathogenic 6
- p.Gln19Ter Single submitter Fetal anomalies with a likely genetic cause
- p.His72fs Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Thr149fs Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asp201Asn No assertion criteria spondylocostal dysostosis 3, autosomal recessive
- p.Lys124fs No assertion criteria spondylocostal dysostosis 3, autosomal recessive
- p.Phe188Leu No assertion criteria spondylocostal dysostosis 3, autosomal recessive
Likely pathogenic 5
- p.Thr145Met Multiple submitters LFNG-related disorders
- c.736-2A>G Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.987+1G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro96fs Single submitter LFNG-related disorders
- p.Ser216fs Single submitter LFNG-related disorders
Conflicting classifications of pathogenicity 9
- c.735+9C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Arg341Trp Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Glu56fs Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Lys123Arg Single submitter Inborn genetic diseases ⚠
- p.Pro109= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ser191= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Val225Ile Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Val344Ile Single submitter Inborn genetic diseases ⚠
- p.Val346Leu Single submitter Inborn genetic diseases ⚠
Benign 27
- c.482-4A>G Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- c.736-36C>T Multiple submitters
- c.822-38C>T Multiple submitters
- c.988-37G>A Multiple submitters
- p.Glu56delinsGlyTer Multiple submitters
- p.Ser324= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Tyr334= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- c.1074-16T>C Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.219+221G>A Single submitter
- c.219+24A>C Single submitter
- c.219+261A>G Single submitter
- c.219+68T>C Single submitter
- c.432+281C>G Single submitter
- c.433-291G>A Single submitter
- c.47+46G>A Single submitter
- c.736-51C>A Single submitter
- c.822-9C>G Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.988-16C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.*113CGTGTG[4] Single submitter
- c.*121_*125TG[2]CATGTGC[1] Single submitter
- c.*126_*130GT[2]GCGTGTGTG[1] Single submitter
- c.*149G>A Single submitter
- c.*250T>C Single submitter
- p.Arg307His Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asp47delinsGlyTer Single submitter
- p.Pro368= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Trp21Cys Single submitter
Benign/Likely benign 6
- c.481+3G>A Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- c.581+14C>T Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- c.988-12C>T Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Asp55fs Multiple submitters
- p.Thr25= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Tyr204= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
Likely benign 146
- c.1074-104C>T Multiple submitters
- c.47+83C>A Multiple submitters
- c.581+15G>T Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- c.735+33C>T Multiple submitters
- c.822-210A>C Multiple submitters
- c.988-15G>A Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Ala176= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Ala182= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Ala9= Multiple submitters
- p.Asn203= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Glu328= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Gly256= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Ile293= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Leu134= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Leu2= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Pro98= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Ser351= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Ser75= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Tyr224= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Tyr367= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Val223Ile Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Val225= Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Val346Met Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- c.1073+13C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.1073+14G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.1074-11T>C Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.1074-19C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.432+11C>G Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.432+12G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.432+14G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.432+16C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.432+19G>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.432+9C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.433-11T>C Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.433-12T>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.433-17C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.433-18C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.481+10G>C Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.481+16G>C Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.481+20C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.482-16_482-13dup Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.482-17C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.482-19G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.482-20A>G Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.581+18G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.581+7G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.581+9G>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.582-10T>C Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.582-8G>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.735+10T>G Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.735+13C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.735+18C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.736-12C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.736-15_736-13del Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.736-15T>G Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.736-18C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.821+8C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.821+9C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.822-18G>C Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.822-20del Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.822-4G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.822-5C>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.822-6C>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.987+10C>T Single submitter
- c.987+12T>C Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.987+15G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.987+16_987+33del Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.987+17G>T Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.987+8A>G Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.988-11G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- c.-74C>G Single submitter
- p.Ala107= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala170= Single submitter
- p.Ala19= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala299= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala343= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala35= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala354= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala41= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala46= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala61= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala88= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala95= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Arg104= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Arg140= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Arg193= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Arg221= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Arg232= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Arg39= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asn162= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asn167= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asn280Ser Single submitter Inborn genetic diseases
- p.Asn342= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asp131= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asp200= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asp222= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Asp290= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Cys260= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Glu353= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Glu76= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Gly255= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Gly28Arg Single submitter
- p.Gly294= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Gly309= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Gly89= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.His102= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.His198= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.His249= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.His327= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.His345= Single submitter
- p.His363= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ile189= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ile296= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Leu106= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Leu110= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Leu213= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Leu287= Single submitter
- p.Leu300= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Leu42= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Leu74= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Leu9= Single submitter
- p.Phe78= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro218= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro218Leu Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro247= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro271= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro28= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro34= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro91= Single submitter
- p.Pro92= Single submitter
- p.Ser178= Single submitter
- p.Ser241= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ser274= Single submitter Inborn genetic diseases
- p.Ser308= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ser79= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ter380= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Thr121= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Thr160= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Thr281= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Thr331= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Thr82= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Val119= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Val183= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Val344= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Val68= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Val71= Single submitter spondylocostal dysostosis 3, autosomal recessive
Uncertain significance 126
- c.482-3C>T Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Ala95Val Multiple submitters spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ala99Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg187Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg239Trp Multiple submitters spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg246His Multiple submitters spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg341Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg360Cys Multiple submitters spondylocostal dysostosis 3, autosomal recessive
- p.Arg4Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp231Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu190Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu76Lys Multiple submitters spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gly89Val Multiple submitters spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Pro112Thr Multiple submitters spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Pro34Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro53Ala Multiple submitters spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Pro91Ser Multiple submitters spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Pro96Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser79Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr220Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr281Met Multiple submitters Inborn genetic diseases
- p.Thr82Asn Multiple submitters Inborn genetic diseases ⚠
- c.219+1G>A Single submitter
- c.822-19G>A Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala14Glu Single submitter Inborn genetic diseases ⚠
- p.Ala14Gly Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ala16Thr Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ala170Thr Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ala176Val Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ala215Thr Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ala299Thr Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ala46Val Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ala52Val Single submitter Inborn genetic diseases ⚠
- p.Ala54Glu Single submitter Inborn genetic diseases ⚠
- p.Ala59Gly Single submitter Inborn genetic diseases ⚠
- p.Ala66Val Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Ala88Glu Single submitter Inborn genetic diseases ⚠
- p.Ala88Thr Single submitter Inborn genetic diseases ⚠
- p.Ala99Pro Single submitter Inborn genetic diseases ⚠
- p.Arg174Cys Single submitter Inborn genetic diseases ⚠
- p.Arg174His Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg174Leu Single submitter Inborn genetic diseases ⚠
- p.Arg187His Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg193Thr Single submitter Inborn genetic diseases ⚠
- p.Arg208Gly Single submitter Inborn genetic diseases ⚠
- p.Arg208Leu Single submitter Inborn genetic diseases ⚠
- p.Arg208Pro Single submitter Inborn genetic diseases ⚠
- p.Arg212Gln Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg221Trp Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg239Gln Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg263Cys Single submitter Inborn genetic diseases ⚠
- p.Arg263His Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg263Leu Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg284Trp Single submitter Inborn genetic diseases ⚠
- p.Arg286Trp Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg375Cys Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg375His Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg4Gly Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Arg97Cys Single submitter Inborn genetic diseases ⚠
- p.Arg97Ser Single submitter Inborn genetic diseases ⚠
- p.Asn317Lys Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Asp100Val Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Asp186Gly Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Asp231Glu Single submitter Inborn genetic diseases
- p.Asp355Asn Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gln329= Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Glu143del Single submitter
- p.Glu190Lys Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Glu238Val Single submitter Inborn genetic diseases ⚠
- p.Glu242Lys Single submitter Inborn genetic diseases ⚠
- p.Glu338Val Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gly101Asp Single submitter Inborn genetic diseases ⚠
- p.Gly192Ser Single submitter Inborn genetic diseases ⚠
- p.Gly256Ser Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gly258= Single submitter
- p.Gly275Arg Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gly276Arg Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gly309Ser Single submitter Inborn genetic diseases ⚠
- p.Gly335Ser Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gly38Cys Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gly47Asp Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Gly68Ala Single submitter Inborn genetic diseases
- p.Gly89Asp Single submitter ⚠
- p.His102Gln Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.His159Gln Single submitter Inborn genetic diseases ⚠
- p.His72Tyr Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ile189Thr Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Leu13Val Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Leu207Gln Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Leu305Phe Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Leu81Phe Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Lys123Asn Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Lys340Asn Single submitter Inborn genetic diseases ⚠
- p.Met336Ile Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Phe337_Glu338insAspMetPhe Single submitter spondylocostal dysostosis 3, autosomal recessive
- p.Pro103Ala Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Pro103Leu Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Pro105Ala Single submitter Inborn genetic diseases ⚠
- p.Pro218Arg Single submitter Inborn genetic diseases ⚠
- p.Pro271Leu Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Pro304His Single submitter Inborn genetic diseases ⚠
- p.Pro304Leu Single submitter Inborn genetic diseases ⚠
- p.Pro31Leu Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Pro32dup Single submitter
- p.Pro374Arg Single submitter Inborn genetic diseases ⚠
- p.Pro53Leu Single submitter Inborn genetic diseases ⚠
- p.Pro55Thr Single submitter ⚠
- p.Pro92Leu Single submitter Inborn genetic diseases ⚠
- p.Ser169= Single submitter
- p.Ser169Leu Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ser169Pro Single submitter Inborn genetic diseases ⚠
- p.Ser270Arg Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ser351Leu Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ser44Ile Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Ser73Asn Single submitter Inborn genetic diseases ⚠
- p.Thr145Lys Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Thr160Met Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Thr281Lys Single submitter ⚠
- p.Thr370Ala Single submitter ⚠
- p.Thr82Ala Single submitter Inborn genetic diseases ⚠
- p.Trp49fs Single submitter
- p.Val183Met Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Val23Leu Single submitter spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Glu154Lys No assertion criteria ⚠
- p.Thr254Met No assertion criteria spondylocostal dysostosis 3, autosomal recessive ⚠
- p.Trp53_Glu56delinsTer No assertion criteria