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Links from MedGen

Items: 1 to 100 of 216

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUC5B, MUC5B-AS1
(T3116del)
Microsatellite
(inframe_deletion)
Interstitial lung disease 2
GUncertain significance
NKX2-1, SFTA3
(D148N +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
NKX2-1, SFTA3
(D102E +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
NKX2-1, NKX2-1-AS1
(G23R)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
SFTPA2
(R219L +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
SFTPA2
(Y186C +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GLikely pathogenic
SFTPA2
(F177Y +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
ABCA3
(Q1599H)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
ABCA3
(R1484Q)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
+2 more
GUncertain significance
ABCA3
(T1326N)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
+1 more
GConflicting classifications of pathogenicity
SFTPA2
(A154P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA3
(A734T)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
ABCA3
(S607G)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
ABCA3
(G594R)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
ABCA3
(F478L)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
+1 more
GUncertain significance
ABCA3
(R20L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
(Q231K +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
NKX2-1, SFTA3
(K181E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SFTPA1
(R170L +3 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
SFTPA2
(E226K +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+9 more
GLikely benign
TERT
(A357G)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+9 more
GUncertain significance
LOC110806263, TERT
(G42R)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+7 more
GUncertain significance
SFTPA2
Single nucleotide variant
(intron variant)
Interstitial lung disease 2
GBenign
SFTPA2
(W233R +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GPathogenic
SFTPA2
(N171I +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GPathogenic
SFTPA2
Single nucleotide variant
(intron variant +1 more)
Interstitial lung disease 2
+2 more
GBenign
TOLLIP
Single nucleotide variant
(intron variant)
Interstitial lung disease 2
+2 more
GUncertain significance; association
TOLLIP
Single nucleotide variant
(intron variant)
Interstitial lung disease 2
+1 more
GUncertain significance
FAM13A
Single nucleotide variant
(intron variant)
Interstitial lung disease 2
+2 more
GUncertain significance; association
TERT
Deletion
Interstitial lung disease 2
+1 more
GPathogenic
MUC5B
(S681G)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GLikely benign
MUC5B
(D682G)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GLikely benign
TERT
Duplication
Idiopathic Pulmonary Fibrosis
+2 more
GUncertain significance
MUC5B
Single nucleotide variant
(synonymous variant)
Interstitial lung disease 2
GUncertain significance
MUC5B, MUC5B-AS1
Single nucleotide variant
(synonymous variant)
Interstitial lung disease 2
GUncertain significance
MUC5B, MUC5B-AS1
(T3119A)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
MUC5B-AS1, MUC5B
(T3002K)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
MUC5B, MUC5B-AS1
(P3129S)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
MUC5B
(D909N)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GUncertain significance
TERT
Duplication
Interstitial lung disease 2
+1 more
GUncertain significance
TERT
Duplication
Interstitial lung disease 2
+1 more
GUncertain significance
SFTPA2
(V178M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TERT
(W547G)
Single nucleotide variant
(missense variant +1 more)
Interstitial lung disease 2
+1 more
GUncertain significance
TERT
(P213L)
Single nucleotide variant
(missense variant +1 more)
Interstitial lung disease 2
+1 more
GUncertain significance
TERT
(C842Y)
Single nucleotide variant
(missense variant +1 more)
Interstitial lung disease 2
+3 more
GUncertain significance
TERT
(R1023G +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(N95K)
Single nucleotide variant
(missense variant +1 more)
Interstitial lung disease 2
+1 more
GUncertain significance
ABCA3
(A1629fs)
Duplication
(frameshift variant)
Interstitial lung disease 2
GLikely pathogenic
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely pathogenic
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
TERT
(S255Y)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+9 more
GUncertain significance
ABCA3
(D953N)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
+3 more
GConflicting classifications of pathogenicity
ABCA3
(D724E)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GConflicting classifications of pathogenicity
TERT
(T283P)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+9 more
GUncertain significance
TERT
(W478*)
Single nucleotide variant
(nonsense +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
(E327D)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(R888W +1 more)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+5 more
GConflicting classifications of pathogenicity
TERT
Duplication
Dyskeratosis congenita, autosomal dominant 2
+2 more
GUncertain significance
NKD2, PDCD6
+15 more
Deletion
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
Duplication
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Duplication
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
AHRR, BRD9
+15 more
Deletion
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
ZDHHC11B, ZDHHC11
+15 more
Duplication
Interstitial lung disease 2
+1 more
GUncertain significance
SFTPC
(Y106H +1 more)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
GLikely pathogenic
TERT
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant)
Interstitial lung disease 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+3 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+3 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic Pulmonary Fibrosis
+9 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Interstitial lung disease 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Interstitial lung disease 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
MUC5B
(A5620V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TERT
Single nucleotide variant
(intron variant)
Interstitial lung disease 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+3 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
ABCA3
(R638H)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
+1 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
not provided
GBenign
TERT
Duplication
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Duplication
Interstitial lung disease 2
+1 more
GUncertain significance
TERT
Duplication
Interstitial lung disease 2
+1 more
GUncertain significance
LOC110806263, TERT
Duplication
Interstitial lung disease 2
+1 more
GUncertain significance
TERT
Duplication
Interstitial lung disease 2
+1 more
GUncertain significance
TERT
(A1014P +1 more)
Single nucleotide variant
(missense variant +1 more)
Interstitial lung disease 2
+1 more
GUncertain significance
LOC110806263, LOC110806264
+2 more
Duplication
Interstitial lung disease 2
+1 more
GUncertain significance
TERT
(V299M)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+7 more
GConflicting classifications of pathogenicity
SFTPA2
(R85C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC110806263, LOC110806264
+2 more
Duplication
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
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