U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(Q1253fs)
Deletion
(frameshift variant)
Pes planus
+8 more
GPathogenic
FBN1
(C160R)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+5 more
GPathogenic/Likely pathogenic
FBN1
(C2672W)
Single nucleotide variant
(missense variant)
Ectopia lentis
+6 more
GLikely pathogenic
ADAMTSL4, ADAMTSL4-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant)
Ectopia lentis
GLikely benign
FBN1
Microsatellite
Weill-Marchesani syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
Weill-Marchesani syndrome
+7 more
GUncertain significance
FBN1, LOC130057020
Single nucleotide variant
(5 prime UTR variant)
Weill-Marchesani syndrome
+7 more
GUncertain significance
FBN1, LOC130057020
Single nucleotide variant
(5 prime UTR variant)
Stiff skin syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GLikely benign
FBN1
Single nucleotide variant
(intron variant)
Acromicric dysplasia
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(K2088N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
+9 more
GConflicting classifications of pathogenicity
FBN1
Deletion
(3 prime UTR variant)
Weill-Marchesani syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GUncertain significance
FBN1
Deletion
(3 prime UTR variant)
not provided
+8 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Marfan syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+7 more
GLikely benign
FBN1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Acromicric dysplasia
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+7 more
GUncertain significance
FBN1
Duplication
(3 prime UTR variant)
Weill-Marchesani syndrome
+7 more
GLikely benign
FBN1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+7 more
GLikely benign
FBN1
Single nucleotide variant
(3 prime UTR variant)
Acromicric dysplasia
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Acromicric dysplasia
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+7 more
GUncertain significance
ADAMTSL4
Microsatellite
(3 prime UTR variant)
Ectopia lentis
GUncertain significance
ADAMTSL4, LOC129931410
(P1010del +2 more)
Microsatellite
(inframe_deletion)
Ectopia lentis
GUncertain significance
ADAMTSL4
Single nucleotide variant
(intron variant)
Ectopia lentis
+1 more
GConflicting classifications of pathogenicity
ADAMTSL4, ADAMTSL4-AS2
Single nucleotide variant
(synonymous variant +1 more)
ADAMTSL4-related condition
+2 more
GConflicting classifications of pathogenicity
ADAMTSL4, ADAMTSL4-AS2
Microsatellite
(intron variant)
Ectopia lentis
+1 more
GConflicting classifications of pathogenicity
FBN1
(T2788M)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
Single nucleotide variant
(intron variant)
not specified
+8 more
GConflicting classifications of pathogenicity
FBN1
Duplication
(intron variant)
Geleophysic dysplasia
+8 more
GBenign
FBN1, LOC126862124
(S1438N)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
Stiff skin syndrome
+9 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(intron variant)
not provided
+5 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Stiff skin syndrome
+9 more
GBenign/Likely benign
FBN1
(T1547I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
ADAMTSL4, ADAMTSL4-AS2
(Q256fs)
Deletion
Ectopia lentis et pupillae
+3 more
GPathogenic
FBN1
(R1170H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
Format
Items per page
Sort by
Choose Destination