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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOLLIP
Single nucleotide variant
(intron variant)
Combined pulmonary fibrosis-emphysema syndrome
+2 more
GUncertain significance; association
TOLLIP
Single nucleotide variant
(intron variant)
Chronic obstructive pulmonary disease
+1 more
GUncertain significance
FAM13A
Single nucleotide variant
(intron variant)
Combined pulmonary fibrosis-emphysema syndrome
+2 more
GUncertain significance; association
Single nucleotide variant
Chronic obstructive pulmonary disease
Gassociation
SCGB1A1
Single nucleotide variant
(5 prime UTR variant)
Chronic obstructive pulmonary disease
Gassociation
Single nucleotide variant
Chronic obstructive pulmonary disease
Gassociation
FAM13A
Single nucleotide variant
Chronic obstructive pulmonary disease
Gassociation
FAM13A
Single nucleotide variant
(intron variant)
not provided
GBenign
FAM13A
Single nucleotide variant
(intron variant)
Chronic obstructive pulmonary disease
Gassociation
HHIP
Single nucleotide variant
Chronic obstructive pulmonary disease, biomass related
+1 more
Gassociation
HHIP
Single nucleotide variant
Chronic obstructive pulmonary disease
+1 more
Gassociation
HHIP
Single nucleotide variant
Chronic obstructive pulmonary disease
+1 more
Gassociation
HSPA1L
(T493K)
Single nucleotide variant
(missense variant)
Chronic obstructive pulmonary disease
Gassociation
HSPA1B
Single nucleotide variant
Chronic obstructive pulmonary disease
Gassociation
HSPA1B
Single nucleotide variant
(5 prime UTR variant)
Chronic obstructive pulmonary disease
Gassociation
HSPA1A
Single nucleotide variant
(synonymous variant)
Chronic obstructive pulmonary disease
Gassociation
HSPA1A, LOC107063610
Single nucleotide variant
(5 prime UTR variant)
Chronic obstructive pulmonary disease
Gassociation
HSPA1A, LOC107063610
Single nucleotide variant
Chronic obstructive pulmonary disease
Gassociation
HSPA1A
(E110D)
Single nucleotide variant
(missense variant)
Chronic obstructive pulmonary disease
Gassociation
DSP
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINA1
(E288V +1 more)
Single nucleotide variant
(missense variant +1 more)
Alpha-1-antitrypsin deficiency
GPathogenic
SERPINA1
(E366K +1 more)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
GPathogenic
SERPINA1
(E288V +1 more)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
GPathogenic
SERPINA1
(E288V +1 more)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
GPathogenic
TERT
(T644M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 1
+13 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GBenign
SERPINA1
(E288V)
Single nucleotide variant
(missense variant)
SERPINA1-related condition
+4 more
GPathogenic/Pathogenic, low penetrance; other
SERPINA1
(E366K)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
+7 more
GPathogenic; risk factor
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