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Links from Gene

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPHA2
(V772L +1 more)
Single nucleotide variant
(missense variant)
Cataract 6 multiple types
GUncertain significance
EPHA2
(Y415H +1 more)
Single nucleotide variant
(missense variant)
Cataract 6 multiple types
GUncertain significance
EPHA2, EPHA2-AS1
(L3F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
EPHA2
(V116M +1 more)
Single nucleotide variant
(missense variant)
Cataract 6 multiple types
GUncertain significance
EPHA2
(I904V +1 more)
Single nucleotide variant
(missense variant)
Cataract 6 multiple types
GUncertain significance
EPHA2-AS1, EPHA2
(W14G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
EPHA2, EPHA2-AS1
(W14*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bilateral microphthalmos
+2 more
GPathogenic
EPHA2, EPHA2-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EPHA2, EPHA2-AS1
(G26V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cataract 6 multiple types
GUncertain significance
EPHA2
(G391R +1 more)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
GLikely pathogenic
EPHA2, EPHA2-AS1
Single nucleotide variant
(5 prime UTR variant)
Cataract 6 multiple types
GUncertain significance
EPHA2
(F660V +1 more)
Single nucleotide variant
(missense variant)
Developmental cataract
GUncertain significance
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