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Links from MedGen

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SFTPC
(R114* +2 more)
Single nucleotide variant
(nonsense)
Surfactant metabolism dysfunction, pulmonary, 2
GLikely pathogenic
SFTPC
(L45P)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
(G44R +1 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
(T105M +2 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
(I50M)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
(K63E)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
(H64Q)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
GLikely pathogenic
SFTPC
(D105V +1 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GLikely pathogenic
SFTPC
Duplication
(inframe_insertion +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GBenign
SFTPC
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GBenign
SFTPC
Duplication
(3 prime UTR variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GBenign
SFTPC
(A102fs +2 more)
Deletion
(frameshift variant)
Surfactant metabolism dysfunction, pulmonary, 2
GLikely pathogenic
SFTPC
(C136Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GConflicting classifications of pathogenicity
SFTPC
(A149S +2 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
+1 more
GUncertain significance
SFTPC
(A53T)
Single nucleotide variant
(missense variant +1 more)
Interstitial lung disease 2
+2 more
GConflicting classifications of pathogenicity
SFTPC
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease 2
+1 more
GUncertain significance
SFTPC
(R23Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
SFTPC
Single nucleotide variant
(3 prime UTR variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GLikely benign
SFTPC
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GBenign
SFTPC
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GUncertain significance
SFTPC
(L84H +1 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
(S133R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
BMP1, LOC129999976
+1 more
Single nucleotide variant
Surfactant metabolism dysfunction, pulmonary, 2
+2 more
GUncertain significance
SFTPC
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease 2
+1 more
GUncertain significance
BMP1, SFTPC
Single nucleotide variant
(3 prime UTR variant)
Pulmonary Surfactant Metabolism Dysfunction, Dominant
+3 more
GBenign
BMP1, SFTPC
Single nucleotide variant
(3 prime UTR variant)
Pulmonary Surfactant Metabolism Dysfunction, Dominant
+3 more
GBenign/Likely benign
BMP1, SFTPC
Single nucleotide variant
(3 prime UTR variant)
Pulmonary Surfactant Metabolism Dysfunction, Dominant
+3 more
GBenign
BMP1, SFTPC
Single nucleotide variant
(3 prime UTR variant)
Pulmonary Surfactant Metabolism Dysfunction, Dominant
+3 more
GBenign/Likely benign
SFTPC
Single nucleotide variant
(intron variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GBenign
SFTPC
Single nucleotide variant
(3 prime UTR variant +1 more)
Interstitial lung disease 2
+1 more
GBenign
SFTPC
Single nucleotide variant
(3 prime UTR variant +1 more)
Interstitial lung disease 2
+3 more
GConflicting classifications of pathogenicity
SFTPC
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 2
+2 more
GBenign/Likely benign
SFTPC
(L181V +2 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
+3 more
GConflicting classifications of pathogenicity
SFTPC
(G175R +2 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GUncertain significance
SFTPC
(A155P +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SFTPC
(E147K +1 more)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GUncertain significance
SFTPC
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 2
+3 more
GBenign/Likely benign
SFTPC
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 2
+4 more
GBenign/Likely benign
SFTPC
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+4 more
GBenign
SFTPC
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 2
+2 more
GBenign/Likely benign
SFTPC
(H59R)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
+4 more
GConflicting classifications of pathogenicity
SFTPC
(V48M)
Single nucleotide variant
(missense variant +1 more)
Interstitial lung disease 2
+1 more
GLikely benign
SFTPC
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 2
+5 more
GBenign/Likely benign
SFTPC
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GConflicting classifications of pathogenicity
SFTPC
Single nucleotide variant
(synonymous variant)
Surfactant metabolism dysfunction, pulmonary, 2
+4 more
GBenign/Likely benign
SFTPC
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GLikely benign
SFTPC
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GBenign
SFTPC
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 2
+1 more
GBenign
BMP1, SFTPC
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
SFTPC
(V39M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SFTPC
(V39L)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
+3 more
GConflicting classifications of pathogenicity
BMP1, SFTPC
(S186N +2 more)
Single nucleotide variant
(missense variant)
Pulmonary Surfactant Metabolism Dysfunction, Dominant
+6 more
GBenign
BMP1, SFTPC
Single nucleotide variant
(intron variant)
Osteogenesis Imperfecta, Recessive
+5 more
GBenign
BMP1, SFTPC
(T138N +1 more)
Single nucleotide variant
(missense variant)
Pulmonary Surfactant Metabolism Dysfunction, Dominant
+6 more
GBenign/Likely benign
BMP1, SFTPC
Single nucleotide variant
(intron variant)
Osteogenesis Imperfecta, Recessive
+5 more
GBenign/Likely benign
USH2A
(W2994*)
Single nucleotide variant
(nonsense)
Usher syndrome
+6 more
GPathogenic/Likely pathogenic
SFTPC
(L194P +2 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GPathogenic
SFTPC
(E66K)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
GPathogenic
SFTPC
(A116D +1 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GPathogenic
SFTPC
Single nucleotide variant
(splice donor variant)
Surfactant metabolism dysfunction, pulmonary, 2
GPathogenic
SFTPC
(L188Q +2 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GPathogenic
SFTPC
(R167Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SFTPC
(I73T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SFTPC
Single nucleotide variant
(splice donor variant)
Surfactant metabolism dysfunction, pulmonary, 2
GPathogenic
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