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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SFTPA1
(R161H +3 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 1
+1 more
GConflicting classifications of pathogenicity
SFTPA1
(W162C +3 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 1
GUncertain significance
SFTPA1
(Y208H +3 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 1
GPathogenic
SFTPA1
(V178M +3 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 1
GPathogenic
SFTPA1
(V225M +3 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 1
GPathogenic
SFTPA1
(W211R +3 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 1
GPathogenic
SFTPA1
(R242* +3 more)
Single nucleotide variant
(nonsense)
Respiratory distress associated with prematurity
+2 more
GUncertain significance
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