U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGL
(L142M)
Single nucleotide variant
(missense variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+3 more
GConflicting classifications of pathogenicity
PIGL
(L167P)
Single nucleotide variant
(missense variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+3 more
GPathogenic
PIGL
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
Format
Sort by
Choose Destination