SFTPC — 209 ClinVar variants
All ClinVar germline SFTPC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
14 Pathogenic · 3 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 18 Conflicting · 25 Benign · 16 Benign/Likely benign · 38 Likely benign · 82 Uncertain significance
Full SFTPC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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.
-
SFTPC p.Ile73Thr
Pathogenic/Likely pathogenic
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Ala116Asp
Pathogenic
No assertion criteria
surfactant metabolism dysfunction, pulmonary, 2
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SFTPC p.Ala149Pro
Conflicting
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
-
SFTPC p.Arg161Gln
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Arg81His
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.Cys183Gly Conflicting Single submitter
-
SFTPC p.Cys183Tyr
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Gly169Arg
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Ile191Leu
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Thr181Asn
Conflicting
Single submitter
SFTPC-related disorder
-
SFTPC p.Val48Met
Conflicting
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SFTPC p.Gly4Ser
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPC p.Leu45Pro
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 2
-
SFTPC p.Val39Met
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 2
-
SFTPC c.436-15G>A
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
-
SFTPC c.436-9T>G
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Ala127Gly
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Ala149Ser
Uncertain significance
Single submitter
interstitial lung disease 2
- SFTPC p.Ala178Val Uncertain significance Single submitter
- SFTPC p.Arg139Ser Uncertain significance Single submitter
- SFTPC p.Cys120Trp Uncertain significance Single submitter
-
SFTPC p.Cys121Ser
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.Cys121Trp Uncertain significance Single submitter
- SFTPC p.Glu185Lys Uncertain significance Single submitter
- SFTPC p.Glu86Lys Uncertain significance Single submitter
-
SFTPC p.Gly164Arg
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Gly170Glu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Gly176Cys
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.Gly184Ser Uncertain significance Single submitter
-
SFTPC p.Gly52Arg
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.His32Arg Uncertain significance Single submitter
- SFTPC p.His32Leu Uncertain significance Single submitter
-
SFTPC p.His32Pro
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.His87Tyr
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.Ile123Thr Uncertain significance Single submitter
-
SFTPC p.Leu110Arg
Uncertain significance
Single submitter
SFTPC-related disorder
-
SFTPC p.Leu137His
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
- SFTPC p.Leu137Val Uncertain significance Single submitter
-
SFTPC p.Lys147Asn
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.Met60Val Uncertain significance Single submitter
-
SFTPC p.Pro117Thr
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Pro148Leu
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
-
SFTPC p.Pro151Ser
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.Thr119Ser Uncertain significance Single submitter
-
SFTPC p.Thr152Met
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
- SFTPC p.Tyr113Asp Uncertain significance Single submitter
-
SFTPC p.Tyr113Cys
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
- SFTPC p.Tyr122His Uncertain significance Single submitter
- SFTPC p.Val103Leu Uncertain significance Single submitter
-
SFTPC p.Val8Leu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Val8Phe
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Met177Val
Uncertain significance
No assertion criteria
SFTPC-related disorder
Predictors split 33
The independent predictors disagree with each other — read with care.
-
SFTPC p.Ile50Met
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Leu55Phe
Likely pathogenic
Multiple submitters
SFTPC-related disorder
- SFTPC p.Ala112Thr Uncertain significance Single submitter
-
SFTPC p.Ala53Thr
Conflicting
Single submitter
interstitial lung disease 2
-
SFTPC p.Ala83Thr
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Ala83Val
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.Glu70Gly Uncertain significance Single submitter
- SFTPC p.Gly100Val Uncertain significance Single submitter
-
SFTPC p.Gly118Arg
Likely benign
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPC p.Gly176Asp Uncertain significance Single submitter
- SFTPC p.Gly57Ser Uncertain significance Single submitter
-
SFTPC p.Gly97Arg
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
- SFTPC p.Gly97Cys Uncertain significance Single submitter
- SFTPC p.Gly97Ser Uncertain significance Single submitter
-
SFTPC p.His59Arg
Conflicting
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
-
SFTPC p.His64Gln
Likely pathogenic
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
-
SFTPC p.Ile46Asn
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Leu175Val
Conflicting
Single submitter
interstitial lung disease 2
-
SFTPC p.Lys63Glu
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 2
- SFTPC p.Met67Thr Uncertain significance Single submitter
-
SFTPC p.Pro14Leu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Pro187Leu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Pro30Ser
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Ser61Gly
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Tyr104His
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Tyr106His
Likely pathogenic
Single submitter
interstitial lung disease 2
- SFTPC p.Tyr122Cys Uncertain significance Single submitter
-
SFTPC p.Val102Met
Uncertain significance
Single submitter
pulmonary fibrosis
-
SFTPC p.Val39Leu
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Val68Phe
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPC p.Arg35His
Uncertain significance
No assertion criteria
SFTPC-related disorder
-
SFTPC p.Glu66Lys
Pathogenic
No assertion criteria
surfactant metabolism dysfunction, pulmonary, 2
-
SFTPC p.Leu188Pro
Pathogenic
No assertion criteria
surfactant metabolism dysfunction, pulmonary, 2
All SFTPC variants
Pathogenic 14
- c.325-1G>A Single submitter
- c.325-1G>C Single submitter
- c.435+1G>A Single submitter surfactant metabolism dysfunction, pulmonary, 2
- p.Arg161fs Single submitter hereditary pulmonary alveolar proteinosis
- p.Asp105Tyr Single submitter
- p.Cys121Phe Single submitter surfactant metabolism dysfunction, pulmonary, 2
- p.Glu135fs Single submitter
- p.Thr138fs Single submitter hereditary pulmonary alveolar proteinosis
- c.325-2A>C No assertion criteria SFTPC-related disorder
- c.435+1G>T No assertion criteria surfactant metabolism dysfunction, pulmonary, 2
- p.Ala116Asp No assertion criteria surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Glu66Lys No assertion criteria surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Leu182Gln No assertion criteria surfactant metabolism dysfunction, pulmonary, 2
- p.Leu188Pro No assertion criteria surfactant metabolism dysfunction, pulmonary, 2 ⚠
Pathogenic/Likely pathogenic 3
- c.435+2T>C Multiple submitters SFTPC-related disorder
- p.Ile73Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Leu110Pro Multiple submitters hereditary pulmonary alveolar proteinosis
Likely pathogenic 13
- p.Leu55Phe Multiple submitters SFTPC-related disorder ⚠
- p.Ala112Pro Single submitter hereditary pulmonary alveolar proteinosis
- p.Ala149fs Single submitter surfactant metabolism dysfunction, pulmonary, 2
- p.Arg161Ter Single submitter surfactant metabolism dysfunction, pulmonary, 2
- p.Asp105Gly Single submitter
- p.Asp105Val Single submitter surfactant metabolism dysfunction, pulmonary, 2
- p.Gln145= Single submitter hereditary pulmonary alveolar proteinosis
- p.Glu159fs Single submitter hereditary pulmonary alveolar proteinosis
- p.His142fs Single submitter
- p.His64Gln Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Ser133Arg Single submitter Inborn genetic diseases
- p.Tyr106His Single submitter interstitial lung disease 2 ⚠
- p.Tyr113His Single submitter hereditary pulmonary alveolar proteinosis
Conflicting classifications of pathogenicity 18
- c.201+3G>A Single submitter
- c.324+5G>A Single submitter hereditary pulmonary alveolar proteinosis
- p.Ala149Pro Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Ala53Thr Single submitter interstitial lung disease 2 ⚠
- p.Arg161Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Arg81His Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Cys183Gly Single submitter ⚠
- p.Cys183Tyr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly169Arg Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.His59Arg Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Ile191Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Leu175Val Single submitter interstitial lung disease 2 ⚠
- p.Lys140Ter Single submitter interstitial lung disease 2
- p.Pro14= Single submitter interstitial lung disease 2
- p.Thr181Asn Single submitter SFTPC-related disorder ⚠
- p.Val39Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Val48Met Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Val68Phe Single submitter hereditary pulmonary alveolar proteinosis ⚠
Benign 25
- c.201+49C>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.42+35G>A Multiple submitters
- c.43-21T>C Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.43-87C>T Multiple submitters
- c.435+148C>T Multiple submitters
- c.435+71G>A Multiple submitters
- c.436-125C>T Multiple submitters
- c.436-26C>G Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.-53-218G>A Multiple submitters
- c.*174G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.*19-39dup Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- p.Ser180Asn Multiple submitters hereditary pulmonary alveolar proteinosis
- c.18+12G>A Single submitter interstitial lung disease 2
- c.18+13G>A Single submitter surfactant metabolism dysfunction, pulmonary, 2
- c.201+19A>G Single submitter hereditary pulmonary alveolar proteinosis
- c.42+15G>A Single submitter hereditary pulmonary alveolar proteinosis
- c.42+37G>A Single submitter
- c.43-194G>A Single submitter
- c.43-247A>G Single submitter
- c.43-275G>A Single submitter
- c.-91C>T Single submitter surfactant metabolism dysfunction, pulmonary, 2
- c.-92C>G Single submitter surfactant metabolism dysfunction, pulmonary, 2
- p.Arg21Gln Single submitter hereditary pulmonary alveolar proteinosis
- p.His32Tyr Single submitter hereditary pulmonary alveolar proteinosis
- p.Leu101= Single submitter interstitial lung disease 2
Benign/Likely benign 16
- c.201+14G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.43-7G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.435+12T>G Multiple submitters hereditary pulmonary alveolar proteinosis
- c.435+15G>A Multiple submitters hereditary pulmonary alveolar proteinosis
- c.-134G>C Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.*123G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.*12T>A Multiple submitters hereditary pulmonary alveolar proteinosis
- c.*173C>T Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- c.*36A>G Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- p.Arg23Gln Multiple submitters interstitial lung disease 2
- p.Gly184= Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- p.Ile96= Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- p.Pro117= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Pro76= Multiple submitters interstitial lung disease 2
- p.Thr138Asn Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Val8= Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
Likely benign 38
- c.201+108A>G Multiple submitters
- c.43-8C>T Multiple submitters
- c.-67C>T Multiple submitters surfactant metabolism dysfunction, pulmonary, 2
- p.Ile38= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Pro172= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Thr65= Multiple submitters hereditary pulmonary alveolar proteinosis
- c.202-17C>G Single submitter
- c.202-6C>T Single submitter
- c.42+14C>T Single submitter
- c.42+17G>A Single submitter
- c.42+20T>G Single submitter
- c.43-21_43-18del Single submitter
- c.435+1GT[5] Single submitter hereditary pulmonary alveolar proteinosis
- c.435+1GT[7] Single submitter
- c.436-11G>A Single submitter hereditary pulmonary alveolar proteinosis
- c.436-5T>C Single submitter hereditary pulmonary alveolar proteinosis
- c.436-6C>T Single submitter hereditary pulmonary alveolar proteinosis
- c.-18C>T Single submitter
- c.*171G>A Single submitter interstitial lung disease 2
- p.Ala158Thr Single submitter hereditary pulmonary alveolar proteinosis
- p.Ala18Thr Single submitter hereditary pulmonary alveolar proteinosis
- p.Ala75= Single submitter
- p.Gly118Arg Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Leu54= Single submitter
- p.Leu88= Single submitter hereditary pulmonary alveolar proteinosis
- p.Leu88Val Single submitter hereditary pulmonary alveolar proteinosis
- p.Phe174= Single submitter
- p.Pro128= Single submitter
- p.Pro13= Single submitter hereditary pulmonary alveolar proteinosis
- p.Ser17= Single submitter hereditary pulmonary alveolar proteinosis
- p.Thr138= Single submitter hereditary pulmonary alveolar proteinosis
- p.Thr152= Single submitter hereditary pulmonary alveolar proteinosis
- p.Val103= Single submitter hereditary pulmonary alveolar proteinosis
- p.Val31= Single submitter
- p.Val44_Leu45insValVal Single submitter surfactant metabolism dysfunction, pulmonary, 2
- p.Val47= Single submitter hereditary pulmonary alveolar proteinosis
- p.Val48= Single submitter hereditary pulmonary alveolar proteinosis
- c.-10C>G No assertion criteria SFTPC-related disorder
Uncertain significance 82
- c.*193C>A Multiple submitters interstitial lung disease 2
- p.Gly4Ser Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Ile50Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Leu45Pro Multiple submitters surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Tyr106Ter Multiple submitters
- p.Val39Met Multiple submitters surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Val44del Multiple submitters
- c.325-12T>G Single submitter
- c.43-2A>C Single submitter
- c.435+5G>A Single submitter
- c.436-15G>A Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- c.436-23T>C Single submitter
- c.436-9T>G Single submitter hereditary pulmonary alveolar proteinosis ⚠
- c.*186G>A Single submitter interstitial lung disease 2
- p.Ala112Thr Single submitter ⚠
- p.Ala127Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ala136Pro Single submitter
- p.Ala149Ser Single submitter interstitial lung disease 2 ⚠
- p.Ala178Val Single submitter ⚠
- p.Ala83Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ala83Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Arg139Ser Single submitter ⚠
- p.Cys120Trp Single submitter ⚠
- p.Cys121Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Cys121Trp Single submitter ⚠
- p.Gln79= Single submitter interstitial lung disease 2
- p.Glu185= Single submitter
- p.Glu185Lys Single submitter ⚠
- p.Glu70Gly Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Gly100Val Single submitter ⚠
- p.Gly164Arg Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly170Glu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly176Asp Single submitter ⚠
- p.Gly176Cys Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly184Ser Single submitter ⚠
- p.Gly52Arg Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly57Ser Single submitter ⚠
- p.Gly97Arg Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Gly97Cys Single submitter ⚠
- p.Gly97Ser Single submitter ⚠
- p.His32Arg Single submitter ⚠
- p.His32Leu Single submitter ⚠
- p.His32Pro Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.His87Tyr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ile123Thr Single submitter ⚠
- p.Ile46Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Leu110Arg Single submitter SFTPC-related disorder ⚠
- p.Leu137His Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Leu137Val Single submitter ⚠
- p.Lys147Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Lys63_His64insProLeuLeuMetGlyLeuHisMetSerGlnLys Single submitter surfactant metabolism dysfunction, pulmonary, 2
- p.Lys63Glu Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Met177fs Single submitter
- p.Met60Val Single submitter ⚠
- p.Met67Thr Single submitter ⚠
- p.Pro117Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Pro13Leu Single submitter
- p.Pro148Leu Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Pro14Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Pro151Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Pro187Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Pro30Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ser61Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ter192Gln Single submitter
- p.Ter192Tyr Single submitter
- p.Thr119Ser Single submitter ⚠
- p.Thr152Met Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Tyr104His Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Tyr113Asp Single submitter ⚠
- p.Tyr113Cys Single submitter surfactant metabolism dysfunction, pulmonary, 2 ⚠
- p.Tyr122Cys Single submitter ⚠
- p.Tyr122His Single submitter ⚠
- p.Val102Met Single submitter pulmonary fibrosis ⚠
- p.Val103Leu Single submitter ⚠
- p.Val39fs Single submitter
- p.Val44_Leu45insVal Single submitter
- p.Val8Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Val8Phe Single submitter hereditary pulmonary alveolar proteinosis ⚠
- c.*9C>T No assertion criteria SFTPC-related disorder
- p.Arg35His No assertion criteria SFTPC-related disorder ⚠
- p.Met177Val No assertion criteria SFTPC-related disorder ⚠