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
PNPLA1
(S53W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PNPLA1
(P163T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
KCNQ2
(A306V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
Format
Sort by
Choose Destination