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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WAC
(Y347* +2 more)
Duplication
(nonsense)
DeSanto-Shinawi syndrome due to WAC point mutation
GPathogenic
WAC
(E477K +2 more)
Single nucleotide variant
(missense variant)
DeSanto-Shinawi syndrome
Gnot provided
WAC
(Q442fs +2 more)
Duplication
(frameshift variant)
DeSanto-Shinawi syndrome
GPathogenic
WAC
(S372* +2 more)
Single nucleotide variant
(nonsense)
DeSanto-Shinawi syndrome due to WAC point mutation
Gnot provided
LOC130003576, WAC
Single nucleotide variant
(splice donor variant)
DeSanto-Shinawi syndrome
+1 more
Gnot provided
WAC
(Q226* +1 more)
Single nucleotide variant
(nonsense +1 more)
DeSanto-Shinawi syndrome due to WAC point mutation
GLikely pathogenic
WAC
(S367fs +2 more)
Deletion
(frameshift variant)
DeSanto-Shinawi syndrome due to WAC point mutation
GLikely pathogenic
LOC130003574, WAC
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
WAC
(R2* +1 more)
Single nucleotide variant
(nonsense)
DeSanto-Shinawi syndrome due to WAC point mutation
+1 more
GPathogenic
WAC
Deletion
(splice acceptor variant +1 more)
DeSanto-Shinawi syndrome due to WAC point mutation
GPathogenic
WAC
Single nucleotide variant
(splice donor variant)
DeSanto-Shinawi syndrome due to WAC point mutation
GLikely pathogenic
WAC
(L629fs +2 more)
Deletion
(frameshift variant)
DeSanto-Shinawi syndrome due to WAC point mutation
Gnot provided
WAC
(R505* +2 more)
Single nucleotide variant
(nonsense)
DeSanto-Shinawi syndrome due to WAC point mutation
+1 more
GPathogenic
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