U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from PubMed

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTSL4, ADAMTSL4-AS2
(Q596* +1 more)
Single nucleotide variant
(nonsense)
Isolated ectopia lentis
GPathogenic
FBN1
(P825S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(R309*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FBN1
(D1155V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GLikely pathogenic
FBN1
(D1155G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GLikely pathogenic
ADAMTSL4, ADAMTSL4-AS2
(S571* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FBN1, LOC126862124
(C1420R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(D1115G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1, LOC126862124
(C1420Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
ADAMTSL4
(G719fs +2 more)
Duplication
(frameshift variant)
Ectopia lentis et pupillae
+2 more
GPathogenic
ADAMTSL4, ADAMTSL4-AS2
(P80fs)
Deletion
(frameshift variant)
Ectopia lentis 2, isolated, autosomal recessive
GPathogenic
ADAMTSL4, ADAMTSL4-AS2
(Q256fs)
Deletion
Ectopia lentis et pupillae
+3 more
GPathogenic
Format
Items per page
Sort by
Choose Destination