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Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SFTPB
(I256fs)
Duplication
(frameshift variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(M109fs)
Duplication
(frameshift variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely pathogenic
SFTPB
(L160fs)
Deletion
(frameshift variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely pathogenic
SFTPB
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 1
+1 more
GBenign
SFTPB
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 1
+1 more
GConflicting classifications of pathogenicity
SFTPB
(G244S)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
GLikely pathogenic
SFTPB
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPC
(G4S)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(A242V)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GUncertain significance
SFTPB
(R276Q)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+2 more
GUncertain significance
SFTPB
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(V102L)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(P121A)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GConflicting classifications of pathogenicity
SFTPB
(D125N)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(Y126D)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(synonymous variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(P353L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(M138T)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(G183R)
Single nucleotide variant
(missense variant)
SFTPB-related condition
+1 more
GBenign/Likely benign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely benign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely benign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(synonymous variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 1
+2 more
GBenign/Likely benign
SFTPB
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 1
+2 more
GBenign/Likely benign
SFTPB
(G64R)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+2 more
GConflicting classifications of pathogenicity
SFTPB
(P379R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
SFTPB
(P121fs)
Insertion
(frameshift variant)
Surfactant metabolism dysfunction, pulmonary, 1
GPathogenic
SFTPB
(D118N)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
+2 more
GUncertain significance
SFTPB
(L176F)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
SFTPB
(G135S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SFTPB
Single nucleotide variant
(splice acceptor variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 1
GPathogenic
ABCA3
(L409V)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(5 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(5 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(synonymous variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 1
+2 more
GConflicting classifications of pathogenicity
SFTPB
(L11P)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GUncertain significance
SFTPB
(L14P)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(A46S)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SFTPB
(A187V)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+2 more
GConflicting classifications of pathogenicity
SFTPB
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SFTPB
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+2 more
GBenign/Likely benign
SFTPB
(R217Q)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GConflicting classifications of pathogenicity
SFTPB
(R272H)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+2 more
GBenign/Likely benign
SFTPB
(A283T)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
+3 more
GBenign
SFTPB
(G310R)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(G364R)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
(D380N)
Single nucleotide variant
(missense variant +1 more)
Hereditary pulmonary alveolar proteinosis
+1 more
GUncertain significance
SFTPB
(P338L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 1
GBenign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GBenign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely benign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GBenign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely benign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely benign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely benign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GLikely benign
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 1
GUncertain significance
SFTPB
Single nucleotide variant
(intron variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign
SFTPB
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign/Likely benign
SFTPB
(V177I)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign
SFTPB
(R276W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SFTPB
(G183E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SFTPB
Single nucleotide variant
(missense variant +1 more)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign
SFTPB
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign
SFTPB
Single nucleotide variant
(intron variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign
SFTPB
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign/Likely benign
SFTPB
(T131I)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign
SFTPB
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GBenign
SFTPB
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 1
GPathogenic
SFTPB
(R236C)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+2 more
GConflicting classifications of pathogenicity
SFTPB
Deletion
Surfactant metabolism dysfunction, pulmonary, 1
GPathogenic
SFTPB
(L122fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SFTPB
(P121fs)
Indel
(frameshift variant)
not provided
+2 more
GPathogenic
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