U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADPRS
(K213fs)
Deletion
(frameshift variant)
Abdominal distention
+8 more
GUncertain significance
PLD3, PRX
(K1127*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia 46
+3 more
GPathogenic/Likely pathogenic
ITPR1
(S811F +1 more)
Single nucleotide variant
(missense variant)
Atypical behavior
+3 more
GUncertain significance
Format
Sort by
Choose Destination