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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCAF8
(S576F)
Single nucleotide variant
(missense variant +1 more)
Giant axonal neuropathy 2
GUncertain significance
DCAF8
(R122W)
Single nucleotide variant
(missense variant +1 more)
Giant axonal neuropathy 2
GUncertain significance
DCAF8
(R151C)
Single nucleotide variant
(missense variant +1 more)
Giant axonal neuropathy 2
GUncertain significance
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
Giant axonal neuropathy 2
+2 more
GBenign/Likely benign
DCAF8
(R317C)
Single nucleotide variant
(missense variant +1 more)
Giant axonal neuropathy 2
GPathogenic
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