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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, BSND
+205 more
Copy number loss
See cases
GPathogenic
IFT25
Single nucleotide variant
(intron variant)
not provided
GBenign
IFT25
Single nucleotide variant
(intron variant)
not provided
GBenign
IFT25
Duplication
(intron variant)
not provided
GBenign
IFT25
Single nucleotide variant
(intron variant)
not provided
GBenign
IFT25
Microsatellite
(intron variant)
not provided
GBenign
IFT25
Single nucleotide variant
(intron variant)
not provided
GBenign
IFT25
Single nucleotide variant
(intron variant)
not provided
GBenign
IFT25
Deletion
(intron variant)
not provided
GBenign
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