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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB11A
(H112R)
Single nucleotide variant
(missense variant)
Intellectual disability, mild
+6 more
GLikely pathogenic
LOC130060199, LOC130060200
+14 more
Deletion
(genic upstream transcript variant)
Intellectual disability
+29 more
GPathogenic
TBR1
(S549fs)
Duplication
(frameshift variant)
Delayed fine motor development
+4 more
GLikely pathogenic
TBR1
(T312fs)
Insertion
(frameshift variant)
Delayed fine motor development
+3 more
GLikely pathogenic
BARX1, FAM120A
+11 more
Duplication
Delayed gross motor development
+5 more
GLikely pathogenic
CACNA1C
Deletion
Joint laxity
+4 more
GLikely pathogenic
SPIN2A, SPIN2B
+2 more
Copy number gain
Cognitive impairment
+5 more
GUncertain significance
AGPAT5, ANGPT2
+15 more
Copy number loss
Intellectual disability, mild
+7 more
GPathogenic
ADAM28, ADAM7
+77 more
Copy number gain
Intellectual disability, mild
+7 more
GPathogenic
CLDN3, CLDN4
+23 more
Copy number loss
Decreased body weight
+14 more
GPathogenic
TRIM16L, MED9
+47 more
Copy number loss
Pes valgus
+9 more
GPathogenic
NF1
(R816*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, familial spinal
+13 more
GPathogenic
Complex
Setting-sun eye phenomenon
+16 more
GPathogenic
Translocation
Attention deficit hyperactivity disorder
+14 more
GUncertain significance
Translocation
Hyperhydroxyprolinemia
+24 more
GUncertain significance
Inversion
Global developmental delay
+6 more
GUncertain significance
Complex
Growth delay
+14 more
GPathogenic
Translocation
Depression
+10 more
GUncertain significance
LOC129935026, TBR1
(T532fs)
Microsatellite
(frameshift variant)
Severe global developmental delay
+12 more
GPathogenic/Likely pathogenic
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