U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862156, TRIP4
Insertion
(splice donor variant)
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
GUncertain significance
LOC126862156, TRIP4
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
+2 more
GBenign
TRIP4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TRIP4
(R259C +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
+2 more
GUncertain significance
TRIP4
(I126fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
GUncertain significance
TRIP4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
TRIP4
(R317Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination