U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHH
(C157*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Partial agenesis of the corpus callosum
GPathogenic
DCC
(M1T)
Single nucleotide variant
(missense variant +1 more)
Partial agenesis of the corpus callosum
GLikely pathogenic
TAF8
Single nucleotide variant
(splice acceptor variant)
TAF8-related condition
+3 more
GPathogenic
INPP5K, LIAT1
+41 more
Copy number gain
Echogenic fetal bowel
+4 more
GUncertain significance
DYNC1H1
(P2547L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+10 more
GConflicting classifications of pathogenicity
Translocation
Hypoplasia of the frontal lobes
+11 more
GLikely pathogenic
Translocation
Partial agenesis of the corpus callosum
+1 more
GLikely pathogenic
Translocation
Interictal epileptiform activity
+5 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination