U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP26B1
(S29*)
Single nucleotide variant
(nonsense)
Lethal occipital encephalocele-skeletal dysplasia syndrome
GLikely pathogenic
CYP26B1
(T115I)
Single nucleotide variant
(missense variant +1 more)
Lethal occipital encephalocele-skeletal dysplasia syndrome
+2 more
GUncertain significance
CYP26B1
(H370Y +1 more)
Single nucleotide variant
(missense variant)
Lethal occipital encephalocele-skeletal dysplasia syndrome
GUncertain significance
CYP26B1
(S146P +1 more)
Single nucleotide variant
(missense variant)
Lethal occipital encephalocele-skeletal dysplasia syndrome
GPathogenic
CYP26B1
(R363L +1 more)
Single nucleotide variant
(missense variant)
Lethal occipital encephalocele-skeletal dysplasia syndrome
GPathogenic
Format
Sort by
Choose Destination