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
PTCH1
(G1025fs +4 more)
Deletion
(frameshift variant +1 more)
Holoprosencephaly 7
GLikely pathogenic
PTCH1
(V131I +2 more)
Single nucleotide variant
(missense variant +2 more)
Holoprosencephaly 7
GUncertain significance