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Links from MedGen

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LTBP4
(V125M +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(P38fs)
Deletion
(frameshift variant +1 more)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GPathogenic
LTBP4
(V334fs +2 more)
Duplication
(frameshift variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(G416R +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GConflicting classifications of pathogenicity
LTBP4
(E537D +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(L203* +2 more)
Single nucleotide variant
(nonsense)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GLikely pathogenic
LOC130064472, LTBP4
(A2V)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GConflicting classifications of pathogenicity
LTBP4
(G395C +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(Y213H +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(R1100* +2 more)
Single nucleotide variant
(nonsense)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GLikely pathogenic
LTBP4
(E80G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LTBP4
(V127M +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Gnot provided
LTBP4
Single nucleotide variant
(splice acceptor variant +1 more)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LOC130064475, LTBP4
(E230* +2 more)
Single nucleotide variant
(nonsense)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GPathogenic
LTBP4
(R800Q +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LTBP4
Deletion
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GLikely pathogenic
LTBP4
Single nucleotide variant
(splice donor variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Gnot provided
LTBP4
(R677* +2 more)
Single nucleotide variant
(nonsense)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GConflicting classifications of pathogenicity
LOC130064475, LTBP4
(C257Y +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(E189fs +2 more)
Deletion
(frameshift variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GLikely pathogenic
LTBP4
Single nucleotide variant
(splice acceptor variant +1 more)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GPathogenic
LOC121627876, LTBP4
(P276L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP4
(P58S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP4
(P1123L +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GUncertain significance
LTBP4
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
LTBP4
(S1149T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LTBP4
(R454fs +2 more)
Deletion
(frameshift variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GPathogenic
LTBP4
(R1395Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GConflicting classifications of pathogenicity
LOC121627876, LTBP4
(P308A +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(intron variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GConflicting classifications of pathogenicity
LTBP4
Single nucleotide variant
(intron variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GConflicting classifications of pathogenicity
LTBP4
(G212S +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(A191G +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GUncertain significance
LTBP4
(R131H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(V127L +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(A149S +1 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(intron variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(R406H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LTBP4
(C1565Y +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GUncertain significance
LTBP4
(E726Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
LTBP4
(C1284fs +2 more)
Duplication
(frameshift variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GLikely pathogenic
LTBP4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GConflicting classifications of pathogenicity
LTBP4
(Q610* +2 more)
Single nucleotide variant
(nonsense)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GPathogenic
LOC121627876, LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+2 more
GConflicting classifications of pathogenicity
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GBenign
LTBP4
Single nucleotide variant
(intron variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+2 more
GBenign
LTBP4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LTBP4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
LOC121627876, LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+3 more
GBenign/Likely benign
LTBP4
(E1160K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LTBP4
(V125A +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+2 more
GUncertain significance
LTBP4
(R628C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LTBP4
(A1342T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP4
(D685N +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LTBP4
Deletion
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GBenign
LTBP4
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
LTBP4
(G1420E +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(P1412A +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
(P1341R +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GUncertain significance
LTBP4
(P1340L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LTBP4
(G1140E +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LTBP4
(P970R +2 more)
Single nucleotide variant
(missense variant)
LTBP4-related disorder
+2 more
GConflicting classifications of pathogenicity
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LTBP4
Single nucleotide variant
(intron variant)
LTBP4-related disorder
+3 more
GConflicting classifications of pathogenicity
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GConflicting classifications of pathogenicity
LTBP4
(G807R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
LTBP4
(N719K +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GUncertain significance
LTBP4
(R700W +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GUncertain significance
LTBP4
(P679L +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+2 more
GUncertain significance
LTBP4
(P612A +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+2 more
GBenign
LTBP4
(T639A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LTBP4
(R568G +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
LTBP4
(V546M +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GUncertain significance
LTBP4
Single nucleotide variant
(synonymous variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GBenign/Likely benign
LTBP4
(M511V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LTBP4
(R509C +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
+1 more
GUncertain significance
LOC121627876, LTBP4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
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