U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FTSJ1
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, X-linked 9
GUncertain significance
FTSJ1
(R24C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 9
+1 more
GUncertain significance
FTSJ1
(P207fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 9
Gnot provided
FTSJ1
(I157V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 9
GUncertain significance
FTSJ1
(V86fs)
Deletion
(frameshift variant +1 more)
Intellectual disability, X-linked 9
GPathogenic
FTSJ1
(R246C +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 9
GUncertain significance
FTSJ1
Single nucleotide variant
(intron variant +1 more)
Intellectual disability, X-linked 9
GPathogenic
FTSJ1
Deletion
(intron variant +1 more)
Intellectual disability, X-linked 9
GPathogenic
FTSJ1
(Q66*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, X-linked 9
GPathogenic
FTSJ1
(D219N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination