U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from PubMed

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEB
Single nucleotide variant
(splice donor variant)
Arthrogryposis multiplex congenita 6
+3 more
GPathogenic
NEB
Single nucleotide variant
(splice acceptor variant)
Nemaline myopathy 2
GPathogenic/Likely pathogenic
NEB
(R6270* +1 more)
Single nucleotide variant
(nonsense)
Nemaline myopathy 2
+1 more
GPathogenic
NEB
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis multiplex congenita 6
+2 more
GPathogenic/Likely pathogenic
NEB
Deletion
(splice acceptor variant +1 more)
Arthrogryposis multiplex congenita 6
+1 more
GPathogenic
Format
Sort by
Choose Destination