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Links from Gene

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL8A2, LOC129930125
(V19M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL8A2
(G430V +1 more)
Single nucleotide variant
(missense variant)
Corneal dystrophy, Fuchs endothelial, 1
GUncertain significance
COL8A2, LOC129930125
(G31R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL8A2, LOC129930125
(R25W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL8A2, LOC129930125
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL8A2, LOC129930125
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL8A2, LOC129930125
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
COL8A2, LOC129930125
(P24R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COL8A2, LOC129930125
(I44V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
COL8A2, LOC129930125
(A35V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL8A2, LOC129930125
(P24L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL8A2, LOC129930125
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
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