U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KPTN
Single nucleotide variant
(intron variant +1 more)
Macrocephaly-developmental delay syndrome
+1 more
GConflicting classifications of pathogenicity
KPTN, LOC130064810
(G3R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance