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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS18
Deletion
Microcornea-myopic chorioretinal atrophy
GLikely pathogenic
ADAMTS18
(F313L +1 more)
Single nucleotide variant
(missense variant)
Microcornea-myopic chorioretinal atrophy
GUncertain significance
ADAMTS18, LOC126862407
+2 more
Deletion
Microcornea-myopic chorioretinal atrophy
GLikely pathogenic
ADAMTS18
(W1127* +1 more)
Single nucleotide variant
(nonsense)
Microcornea-myopic chorioretinal atrophy
+1 more
GPathogenic/Likely pathogenic
ADAMTS18
(R1112* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADAMTS18
(P662R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS18
(K918E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ADAMTS18
(Y191H)
Single nucleotide variant
(missense variant +1 more)
Microcornea-myopic chorioretinal atrophy
+1 more
GBenign
ADAMTS18
(R1053W +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
ADAMTS18
(Q33*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcornea-myopic chorioretinal atrophy
GPathogenic
ADAMTS18
(L202P +1 more)
Single nucleotide variant
(missense variant)
Microcornea-myopic chorioretinal atrophy
GPathogenic
ADAMTS18
(E689* +1 more)
Single nucleotide variant
(nonsense)
Microcornea-myopic chorioretinal atrophy
GPathogenic
ADAMTS18
(C577W +1 more)
Single nucleotide variant
(missense variant)
Microcornea-myopic chorioretinal atrophy
GUncertain significance
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