U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13D
(T448A)
Single nucleotide variant
(missense variant)
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
+2 more
GUncertain significance
VPS13D
(T1064S)
Single nucleotide variant
(missense variant)
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
GUncertain significance
VPS13D
(M3227R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
GUncertain significance
VPS13D
(K4257N +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
GUncertain significance
Format
Sort by
Choose Destination