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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCM3AP, MCM3AP-AS1
(L1706F)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
GUncertain significance
TUBB
(G198R +4 more)
Single nucleotide variant
(missense variant +1 more)
Congenital fibrosis of extraocular muscles
GUncertain significance
TUBA1B
(Y185C)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
GUncertain significance
CTNNA1
(D330A +10 more)
Single nucleotide variant
(missense variant +1 more)
Congenital fibrosis of extraocular muscles
GUncertain significance
MYH10
(N312S +2 more)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
GUncertain significance
MYH10
(G303V +2 more)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
GUncertain significance
FGF21, LOC109279247
(R45W)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
GUncertain significance
NES
(E8V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TUBA1A
(M363R +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(R121H +1 more)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(H371D +1 more)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
+1 more
GPathogenic
HRAS, LRRC56
(P169fs +1 more)
Duplication
(frameshift variant +1 more)
Congenital fibrosis of extraocular muscles
+1 more
GUncertain significance
TUBB3
(G142S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KIF21A
Single nucleotide variant
Congenital fibrosis of extraocular muscles
GUncertain significance
KIF21A
Duplication
(intron variant)
Congenital fibrosis of extraocular muscles
GLikely benign
KIF21A
Deletion
(3 prime UTR variant)
Congenital fibrosis of extraocular muscles
GBenign
KIF21A
Duplication
(3 prime UTR variant)
Congenital fibrosis of extraocular muscles
+1 more
GUncertain significance
KIF21A
Duplication
(3 prime UTR variant)
Congenital fibrosis of extraocular muscles
GUncertain significance
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