SFTPB — 253 ClinVar variants
All ClinVar germline SFTPB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
9 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 19 Conflicting · 32 Benign · 13 Benign/Likely benign · 63 Likely benign · 107 Uncertain significance
Full SFTPB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SFTPB p.Gly244Ser
Likely pathogenic
Single submitter
hereditary pulmonary alveolar proteinosis
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SFTPB p.Ala187Val
Conflicting
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Ala242Val
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gly135Ser
Conflicting
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Gly183Arg
Conflicting
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Gly290Glu
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gly64Arg
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Pro121Ala
Conflicting
Single submitter
SFTPB-related disorder
-
SFTPB p.Thr91Met
Conflicting
Single submitter
hereditary pulmonary alveolar proteinosis
Predictors lean, ClinVar uncertain 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SFTPB p.Ala184Pro
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Arg165Gln
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Arg217Gln
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Arg276Gln
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Asp118Asn
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Asp158His
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Asp380Asn
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Gln337Leu
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Glu198Lys
Uncertain significance
Multiple submitters
SFTPB-related disorder
-
SFTPB p.Glu314Lys
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gly183Glu
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.His5Tyr
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Leu11Pro
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
- SFTPB p.Phe120Leu Uncertain significance Multiple submitters
-
SFTPB p.Pro204Leu
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Thr16Met
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Thr343Met
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Tyr126Asp
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Val102Leu
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Val237Met
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Ala187Glu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Ala187Thr
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Ala31Pro
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPB p.Ala356Thr Uncertain significance Single submitter
-
SFTPB p.Ala46Ser
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Arg146Gln
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Arg264His
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Asp125Asn
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Asp170Glu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Asp280Gly
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Asp380Val
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Asp74Asn
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Asp90Asn
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPB p.Cys271Tyr Uncertain significance Single submitter
-
SFTPB p.Cys299Ser
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gln341Glu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gln45Lys
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Glu251Lys
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Glu97Gly
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gly141Asp
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gly21Ser
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gly310Arg
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
- SFTPB p.Gly353Asp Uncertain significance Single submitter
-
SFTPB p.Gly364Arg
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Gly53Ala
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.His139Leu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPB p.His377Tyr Uncertain significance Single submitter
-
SFTPB p.Ile124Val
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Ile317Thr
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Leu160Pro
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Leu164Val
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPB p.Leu261Gln Uncertain significance Single submitter
- SFTPB p.Lys106Arg Uncertain significance Single submitter
-
SFTPB p.Lys94Asn
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Met138Thr
Uncertain significance
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Met279Arg
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Met279Thr
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Met279Val
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Met321Val
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Pro159Arg
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Pro159Leu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Ser157Leu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Ser282Ile
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Ser29Tyr
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Thr307Ile
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPB p.Thr91Lys Uncertain significance Single submitter
-
SFTPB p.Trp329Leu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Trp329Ser
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Val102Ile
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Val255Ile
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Val274Ile
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Val305Met
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Val76Ile
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Gly21Asp
Uncertain significance
No assertion criteria
SFTPB-related disorder
Predictors split 9
The independent predictors disagree with each other — read with care.
-
SFTPB p.Arg276Trp
Uncertain significance
Multiple submitters
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Leu14Pro
Uncertain significance
Multiple submitters
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Ala309Thr
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Arg236Cys
Conflicting
Single submitter
surfactant metabolism dysfunction, pulmonary, 1
-
SFTPB p.Arg252Cys
Pathogenic
Single submitter
hereditary pulmonary alveolar proteinosis
-
SFTPB p.Arg272Cys
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPB p.Arg50Ile Uncertain significance Single submitter
-
SFTPB p.Phe338Leu
Uncertain significance
Single submitter
hereditary pulmonary alveolar proteinosis
- SFTPB p.Pro239Ser Uncertain significance Single submitter
All SFTPB variants
Pathogenic 9
- p.Pro121fs Multiple submitters hereditary pulmonary alveolar proteinosis
- c.1084-1G>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Arg252Cys Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Arg295Ter Single submitter hereditary pulmonary alveolar proteinosis
- p.Cys49Tyr Single submitter
- p.Gln194fs Single submitter hereditary pulmonary alveolar proteinosis
- p.Leu122fs Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Trp292Ter Single submitter
- p.Gly155= No assertion criteria surfactant metabolism dysfunction, pulmonary, 1
Pathogenic/Likely pathogenic 1
- c.195+1G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
Likely pathogenic 9
- c.268-2del Multiple submitters SFTPB-related disorder
- c.195+4A>G Single submitter
- c.583-1G>T Single submitter SFTPB-related disorder
- p.Cys235Arg Single submitter SFTPB-related disorder
- p.Cys302Gly Single submitter hereditary pulmonary alveolar proteinosis
- p.Gln147Ter Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Gly244Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Leu160fs Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Met109fs Single submitter surfactant metabolism dysfunction, pulmonary, 1
Conflicting classifications of pathogenicity 19
- c.1083+7C>T Single submitter hereditary pulmonary alveolar proteinosis
- c.583-15T>C Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.673-14C>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.-31C>T Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Ala187Val Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Ala242Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Arg236Cys Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Gly135Ser Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Gly183Arg Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Gly190= Single submitter hereditary pulmonary alveolar proteinosis
- p.Gly290Glu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly64Arg Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ile75= Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Leu14_Pro15insLeu Single submitter hereditary pulmonary alveolar proteinosis
- p.Pro121Ala Single submitter SFTPB-related disorder ⚠
- p.Pro182= Single submitter hereditary pulmonary alveolar proteinosis
- p.Pro344_Gln345insPro Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Thr260= Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Thr91Met Single submitter hereditary pulmonary alveolar proteinosis ⚠
Benign 32
- c.195+81G>A Multiple submitters
- c.196-8C>A Multiple submitters hereditary pulmonary alveolar proteinosis
- c.68-17C>T Multiple submitters hereditary pulmonary alveolar proteinosis
- c.856+16A>C Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- c.856+29A>G Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- c.856+34T>C Multiple submitters
- c.-32A>C Multiple submitters hereditary pulmonary alveolar proteinosis
- c.-69+210C>A Multiple submitters
- c.-69+93G>A Multiple submitters
- c.*1189A>C Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- c.*1847C>T Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- c.*19+284T>C Multiple submitters
- p.Asp281= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Thr131Ile Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Thr16= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Val177Ile Multiple submitters hereditary pulmonary alveolar proteinosis
- c.1002+176A>G Single submitter
- c.1002+321G>T Single submitter
- c.1003-18GT[2] Single submitter
- c.1003-293T>G Single submitter
- c.1083+20T>C Single submitter
- c.195+233del Single submitter
- c.393+172CA[12] Single submitter
- c.393+212CA[8] Single submitter
- c.393+244CA[8] Single submitter
- c.393+96CA[12] Single submitter
- c.393+96CA[13] Single submitter
- c.393+96CA[15] Single submitter
- c.394-191G>A Single submitter
- c.582+15dup Single submitter
- c.673-294G>C Single submitter
- c.*857C>T Single submitter surfactant metabolism dysfunction, pulmonary, 1
Benign/Likely benign 13
- c.268-20G>C Multiple submitters
- c.393+9T>G Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- c.857-18del Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Ala226= Multiple submitters
- p.Ala283Thr Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- p.Arg236= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Arg272His Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- p.Cys211= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Glu97= Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- p.His192= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Leu176Phe Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- p.Ser197= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Thr343= Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
Likely benign 63
- c.1084-126C>G Multiple submitters
- c.268-64T>A Multiple submitters
- c.67+155C>T Multiple submitters
- c.*1498T>C Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- c.*1848G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- p.Ala309= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Asp117= Multiple submitters hereditary pulmonary alveolar proteinosis
- p.Pro379Arg Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- p.Tyr119= Multiple submitters hereditary pulmonary alveolar proteinosis
- c.1083+17_1083+18insG Single submitter
- c.1084-9C>T Single submitter
- c.196-12C>G Single submitter
- c.196-240GGATG[5] Single submitter
- c.268-18C>T Single submitter
- c.393+172CA[9] Single submitter
- c.393+89A>G Single submitter
- c.393+93A>G Single submitter
- c.583-19C>T Single submitter
- c.673-17C>T Single submitter
- c.673-8dup Single submitter
- c.856+16del Single submitter
- c.856+3G>A Single submitter
- c.857-8A>G Single submitter
- c.-69+102G>A Single submitter
- c.*1591C>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1640T>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1877C>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1901C>T Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1912G>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Ala184= Single submitter
- p.Ala187= Single submitter hereditary pulmonary alveolar proteinosis
- p.Ala226Val Single submitter hereditary pulmonary alveolar proteinosis
- p.Ala83Thr Single submitter hereditary pulmonary alveolar proteinosis
- p.Arg165Trp Single submitter hereditary pulmonary alveolar proteinosis
- p.Arg286= Single submitter hereditary pulmonary alveolar proteinosis
- p.Asn101= Single submitter
- p.Asn134= Single submitter hereditary pulmonary alveolar proteinosis
- p.Asp195= Single submitter hereditary pulmonary alveolar proteinosis
- p.Cys271= Single submitter hereditary pulmonary alveolar proteinosis
- p.Gln247= Single submitter
- p.Gln48= Single submitter
- p.Gln8= Single submitter hereditary pulmonary alveolar proteinosis
- p.Gly19= Single submitter hereditary pulmonary alveolar proteinosis
- p.Gly35= Single submitter hereditary pulmonary alveolar proteinosis
- p.Ile78= Single submitter hereditary pulmonary alveolar proteinosis
- p.Leu14del Single submitter
- p.Leu172= Single submitter hereditary pulmonary alveolar proteinosis
- p.Leu240= Single submitter hereditary pulmonary alveolar proteinosis
- p.Leu258= Single submitter hereditary pulmonary alveolar proteinosis
- p.Leu363= Single submitter
- p.Leu56= Single submitter hereditary pulmonary alveolar proteinosis
- p.Met369Thr Single submitter hereditary pulmonary alveolar proteinosis
- p.Phe95= Single submitter
- p.Pro351Ser Single submitter hereditary pulmonary alveolar proteinosis
- p.Ser282= Single submitter hereditary pulmonary alveolar proteinosis
- p.Ser370Phe Single submitter hereditary pulmonary alveolar proteinosis
- p.Ser371= Single submitter
- p.Thr260Met Single submitter hereditary pulmonary alveolar proteinosis
- p.Thr91= Single submitter hereditary pulmonary alveolar proteinosis
- p.Val350= Single submitter
- p.Val63= Single submitter hereditary pulmonary alveolar proteinosis
- p.Val63Ala Single submitter hereditary pulmonary alveolar proteinosis
- p.Val76= Single submitter
Uncertain significance 107
- c.582+5G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- c.*922G>A Multiple submitters surfactant metabolism dysfunction, pulmonary, 1
- p.Ala184Pro Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Arg165Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Arg217Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Arg276Gln Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Arg276Trp Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Asp118Asn Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Asp158His Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Asp380Asn Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Gln337Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Glu198Lys Multiple submitters SFTPB-related disorder ⚠
- p.Glu314Lys Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Gly183Glu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.His5Tyr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Leu11Pro Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Leu14Pro Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Phe120Leu Multiple submitters ⚠
- p.Pro204Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Thr16Met Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Thr343Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- p.Tyr126Asp Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Val102Leu Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Val237Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
- c.195+5G>A Single submitter
- c.268-14C>T Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.582+6G>A Single submitter
- c.673-8C>T Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.68-8A>G Single submitter
- c.-109C>G Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.-59G>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1488A>G Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1607G>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1756C>G Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1805G>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*1873T>G Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*2062C>T Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*2143C>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*2173G>A Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*2366A>C Single submitter surfactant metabolism dysfunction, pulmonary, 1
- c.*902C>T Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Ala187Glu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ala187Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ala309Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ala31Pro Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ala356Thr Single submitter ⚠
- p.Ala46Ser Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Arg146Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Arg264His Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Arg272Cys Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Arg50Ile Single submitter ⚠
- p.Asp125Asn Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Asp170Glu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Asp280Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Asp355= Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Asp380Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Asp74Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Asp90Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Cys271Tyr Single submitter ⚠
- p.Cys299Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gln341Glu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gln374= Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Gln45Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Glu251Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Glu97Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly141Asp Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly21Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly244Asp Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Gly310Arg Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Gly353Asp Single submitter ⚠
- p.Gly364Arg Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Gly53Ala Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly5Glu Single submitter hereditary pulmonary alveolar proteinosis
- p.His139Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.His377Tyr Single submitter ⚠
- p.Ile124Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ile136Asn Single submitter hereditary pulmonary alveolar proteinosis
- p.Ile256fs Single submitter surfactant metabolism dysfunction, pulmonary, 1
- p.Ile317Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Leu160Pro Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Leu164Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Leu261Gln Single submitter ⚠
- p.Lys106Arg Single submitter ⚠
- p.Lys94Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Met138Thr Single submitter surfactant metabolism dysfunction, pulmonary, 1 ⚠
- p.Met279Arg Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Met279Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Met279Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Met321Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Phe338Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Pro159Arg Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Pro159Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Pro239Ser Single submitter ⚠
- p.Ser157Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ser282Ile Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ser29Tyr Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Ser313Arg Single submitter hereditary pulmonary alveolar proteinosis
- p.Thr307Ile Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Thr91Lys Single submitter ⚠
- p.Trp329Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Trp329Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Val102Ile Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Val255Ile Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Val274Ile Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Val305Met Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Val76Ile Single submitter hereditary pulmonary alveolar proteinosis ⚠
- p.Gly21Asp No assertion criteria SFTPB-related disorder ⚠