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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VCAN
(D574fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
GLikely pathogenic
VCAN
(E654Q)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
VCAN
(S1076C)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
VCAN, VCAN-AS1
Single nucleotide variant
(splice acceptor variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
VCAN, VCAN-AS1
(R2105C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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