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Links from MedGen

Items: 1 to 100 of 1899

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
(E731fs)
Duplication
(frameshift variant)
Vici syndrome
GPathogenic
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant +1 more)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Deletion
(nonsense)
Vici syndrome
GPathogenic
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
(I895T)
Single nucleotide variant
(missense variant)
Vici syndrome
GUncertain significance
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant +1 more)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant +1 more)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5, LOC126862737
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant +1 more)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
(H1296D)
Single nucleotide variant
(missense variant)
Vici syndrome
GUncertain significance
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
(A2490V +1 more)
Single nucleotide variant
(missense variant)
Vici syndrome
GUncertain significance
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
(S248F)
Single nucleotide variant
(missense variant)
Vici syndrome
GUncertain significance
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
(R1785C)
Single nucleotide variant
(missense variant)
Vici syndrome
GUncertain significance
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5, LOC126862737
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Duplication
(intron variant)
Vici syndrome
GBenign
EPG5, LOC126862737
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Deletion
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5, LOC126862737
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(synonymous variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Single nucleotide variant
(intron variant)
Vici syndrome
GLikely benign
EPG5
Deletion
(intron variant)
Vici syndrome
GLikely benign
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