CSF2RA — 468 ClinVar variants

All ClinVar germline CSF2RA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →

17 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 4 Conflicting · 98 Benign · 6 Benign/Likely benign · 192 Likely benign · 146 Uncertain significance

Full CSF2RA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 3

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 lean, ClinVar uncertain 1

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CSF2RA p.Arg28Pro Uncertain significance Single submitter
surfactant metabolism dysfunction, pulmonary, 4

Predictors split 2

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

CSF2RA p.Ala120Thr Uncertain significance Single submitter
surfactant metabolism dysfunction, pulmonary, 4
CSF2RA p.Val5Ala Uncertain significance Single submitter
surfactant metabolism dysfunction, pulmonary, 4

All CSF2RA variants

Pathogenic 17

p.Arg199Ter Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Gln204Ter Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Arg217Ter Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg289fs Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg28Ter Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn123fs Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu117fs Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly196Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu183fs Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu47fs Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu74fs Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser114Ter Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser308fs Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Trp138Ter Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Trp306Ter Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Trp49Ter Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val224fs Single submitter surfactant metabolism dysfunction, pulmonary, 4

Pathogenic/Likely pathogenic 1

p.Gln263Ter Multiple submitters CSF2RA-related disorder

Likely pathogenic 4

c.1043+1G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-1G>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.647-2A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.810+2T>A Single submitter surfactant metabolism dysfunction, pulmonary, 4

Conflicting classifications of pathogenicity 4

p.Arg84His Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly177Ala Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser307= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr230Met Single submitter surfactant metabolism dysfunction, pulmonary, 4

Benign 98

c.1043+31T>C Multiple submitters
c.1044-74G>A Multiple submitters
c.1125+128G>A Multiple submitters
c.1125+17G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.1125+415T>C Multiple submitters
c.219+118T>C Multiple submitters
c.219+123T>C Multiple submitters
c.219+128G>A Multiple submitters
c.219+151A>G Multiple submitters
c.219+19T>G Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.219+97C>A Multiple submitters
c.220-106C>T Multiple submitters
c.220-110A>G Multiple submitters
c.220-112G>A Multiple submitters
c.220-113T>C Multiple submitters
c.220-121C>G Multiple submitters
c.220-123T>C Multiple submitters
c.220-131G>A Multiple submitters
c.220-35T>C Multiple submitters
c.220-80G>A Multiple submitters
c.220-82A>G Multiple submitters
c.220-95G>A Multiple submitters
c.220-97T>C Multiple submitters
c.473+105G>T Multiple submitters
c.473+123C>G Multiple submitters
c.473+158C>T Multiple submitters
c.473+16_473+17del Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.474-143T>G Multiple submitters
c.474-144G>T Multiple submitters
c.646+18G>T Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.647-231T>C Multiple submitters
c.647-244C>A Multiple submitters
c.77-118G>C Multiple submitters
c.77-130C>G Multiple submitters
c.77-204C>A Multiple submitters
c.77-46G>A Multiple submitters
c.781-95C>T Multiple submitters
c.810+139G>A Multiple submitters
c.810+147A>T Multiple submitters
c.810+186T>C Multiple submitters
c.810+70G>A Multiple submitters
c.811-135A>G Multiple submitters
c.811-84C>T Multiple submitters
c.946+52C>G Multiple submitters
c.-26-137A>G Multiple submitters
c.-26-193G>A Multiple submitters
c.*235C>T Multiple submitters
c.*358A>G Multiple submitters
c.*366A>G Multiple submitters
c.*385C>G Multiple submitters
c.*49G>T Multiple submitters
c.*9G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Ala17Gly Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Arg227= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Leu183= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Thr100= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Thr187= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Val333= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.1043+127T>C Single submitter
c.1044-232A>G Single submitter
c.1126-149T>C Single submitter
c.1126-155C>T Single submitter
c.1126-215C>T Single submitter
c.1126-219C>T Single submitter
c.220-139G>A Single submitter
c.220-221A>G Single submitter
c.220-222C>T Single submitter
c.220-240T>C Single submitter
c.220-245G>C Single submitter
c.220-273C>G Single submitter
c.220-311A>G Single submitter
c.473+12C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.473+245A>G Single submitter
c.473+289G>A Single submitter
c.474-309TGTTT[2] Single submitter
c.647-13G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.647-286_647-285dup Single submitter
c.647-290_647-207del Single submitter
c.77-140_77-134del Single submitter
c.77-294G>A Single submitter
c.77-58_77-46del Single submitter
c.780+103C>G Single submitter
c.780+135G>A Single submitter
c.780+323C>G Single submitter
c.781-255C>T Single submitter
c.781-265G>A Single submitter
c.810+230A>G Single submitter
c.811-1448C>T Single submitter Decreased B cell survival and tolerance
c.811-261AAATA[2] Single submitter
c.946+109C>G Single submitter
c.946+13C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.947-251G>A Single submitter
c.-26-78dup Single submitter
c.*49G>A Single submitter
p.Ala131= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly323Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu180= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr231= Single submitter surfactant metabolism dysfunction, pulmonary, 4

Benign/Likely benign 6

c.647-7G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.774_780+10dup Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Arg164Gln Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Pro142Leu Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Ser75Gly Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Thr93= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4

Likely benign 192

c.1125+8G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.1126-122A>G Multiple submitters
c.1126-37G>A Multiple submitters
c.343+50C>T Multiple submitters
c.647-47G>A Multiple submitters
c.647-94T>C Multiple submitters
c.76+118C>G Multiple submitters
c.77-16T>C Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.*144A>G Multiple submitters
c.*195G>T Multiple submitters
c.*274C>T Multiple submitters
p.Asn195= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Leu342= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Val329= Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Val333Met Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.1043+19G>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1044-11_1044-10del Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1044-20A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1044-6T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1125+15G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1125+16C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1125+20G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1126-14C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1126-15C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1126-20T>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.219+18T>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.219+20C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.219+42C>T Single submitter
c.219+7C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.219+7C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.219+8G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.219+8G>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-10A>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-12G>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-18C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-20G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-313G>A Single submitter
c.220-6C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-6C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-7T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.343+14C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.343+19G>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.343+9G>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.344-12A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.344-16T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.344-20T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.344-4C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.344-5C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.473+11A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.473+14_473+15del Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.473+17T>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.473+17T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.473+19_473+20del Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.474-15T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.474-19G>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.474-9A>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.646+20T>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.646+8T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.646+9A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.647-13G>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.647-147C>G Single submitter
c.647-14C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.647-15G>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.647-8C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.76+11A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.76+14C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.76+17G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.76+7A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.77-10C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.77-11G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.77-12C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.77-14C>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.77-18A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.77-35G>A Single submitter
c.77-6T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.780+12C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.780+14C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.780+15C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.780+17C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.780+18G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.780+78G>A Single submitter
c.780+9G>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.781-12T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.781-18G>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.781-20G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.810+11C>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.810+18C>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.810+18C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.810+20C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.811-11T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.811-19T>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.811-4A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.811-8C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.811-9C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.946+106C>T Single submitter
c.946+10G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.946+14G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.946+17G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.946+18G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.946+7G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.946+8T>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.947-10G>C Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.947-14G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.*39-2557C>T Single submitter
p.Ala120= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala139= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala144= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala299= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala33= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg140= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg155Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg160= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg189= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg236= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg289= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn282= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn77= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp147= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp256= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp276= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp300= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp318= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp319= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp368= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp374= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Cys136= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Cys165= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Cys338= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gln106= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gln149= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gln361= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gln52= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu379= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu380= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu71= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu95= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly177= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly185= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly275= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly320= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly388= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly91= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.His175= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.His179= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.His370= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.His97= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile332= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile340= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile352= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile376= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu110= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu152= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu186= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu19= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu322= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu4= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu9= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Phe61= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro142= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro221= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro240= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro264= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro357= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro72= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser184= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser247= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser285= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser286= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser293= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser324= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser7= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser80= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr119= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr143= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr225= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr230= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr242= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr266= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr29= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr395= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr44= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Tyr150= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Tyr248= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Tyr328= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Tyr389= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val148= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val372= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val5= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val69= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val98= Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.1125+172G>T No assertion criteria CSF2RA-related disorder
c.*51G>A No assertion criteria CSF2RA-related disorder

Uncertain significance 146

c.*7G>A Multiple submitters
p.Asp64Gly Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Gly386Arg Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Leu336Val Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Phe94Ser Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Pro112Ser Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Tyr168Asn Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
p.Val226Ile Multiple submitters surfactant metabolism dysfunction, pulmonary, 4
c.1044-3C>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.220-3del Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.343+4A>G Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.343+5G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.646+3G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.77-3C>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.780+3C>T Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.780+4G>A Single submitter surfactant metabolism dysfunction, pulmonary, 4
c.*44G>A Single submitter
c.*48C>T Single submitter CSF2RA-related disorder
p.Ala120Thr Single submitter surfactant metabolism dysfunction, pulmonary, 4 ⚠
p.Ala139Gly Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala139Val Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala290Thr Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala298Val Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala312Thr Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ala33Pro Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg116Lys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg146Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg146His Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg161del Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg164Trp Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg189Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg189His Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg199Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg217Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg227Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg227His Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg236Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg236Trp Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg28Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg28Pro Single submitter surfactant metabolism dysfunction, pulmonary, 4 ⚠
p.Arg302Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg354Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg390Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg390Gly Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg390His Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Arg84Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn113Tyr Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn223Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn261Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn268Asp Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn279Thr Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn46Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asn54Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp256Asn Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp276Asn Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp318Asn Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Asp318Val Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Cys228Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Cys81Tyr Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gln122His Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gln149His Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gln263His Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu12Gly Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu200Val Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu23Asp Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu278Asp Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu311Asp Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu371Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu373Val Single submitter
p.Glu375Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu375Lys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu391Ala Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu391Lys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Glu78Lys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly118Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly177Glu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly265Ala Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly339Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly339Val Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly343Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Gly343Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.His15Tyr Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.His179Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.His89Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile154Thr Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile201Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile313Asn Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile352Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ile377Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu209Val Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu234Ile Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu304Phe Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu330Phe Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu336Phe Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu345Pro Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Leu355Pro Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Lys291Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Met134Ile Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Phe124Val Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Phe205Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Phe206Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Phe346Tyr Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Phe349Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Phe381Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro112Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro142Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro166Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro166Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro240Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro357Gln Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro357Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Pro383Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser172Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser198Gly Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser25= Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser25Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser293Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser34Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser35Asn Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser48Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser7Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser7Asn Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Ser80Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr119Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr143Met Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr187Met Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr197Ser Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr230Arg Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr231Met Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr266Met Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr44Met Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr55Ala Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Thr6Lys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Trp138Cys Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Tyr248Phe Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val148Ile Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val194Gly Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val194Ile Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val226Ala Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val235Ile Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val235Leu Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val301Phe Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val341Ile Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val396Met Single submitter surfactant metabolism dysfunction, pulmonary, 4
p.Val5Ala Single submitter surfactant metabolism dysfunction, pulmonary, 4 ⚠
p.Val70Met Single submitter surfactant metabolism dysfunction, pulmonary, 4