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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AUTS2
(P63Q)
Single nucleotide variant
(missense variant)
Autism spectrum disorder due to AUTS2 deficiency
+1 more
GLikely benign
AUTS2
(R327C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
AUTS2
Single nucleotide variant
(synonymous variant)
Autism spectrum disorder due to AUTS2 deficiency
+1 more
GBenign/Likely benign
AUTS2
Single nucleotide variant
(synonymous variant)
Autism spectrum disorder due to AUTS2 deficiency
+1 more
GBenign/Likely benign
AUTS2
(H1109del +1 more)
Microsatellite
(inframe_deletion)
Autism spectrum disorder due to AUTS2 deficiency
+1 more
GBenign/Likely benign
AUTS2
(P1115L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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