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Links from MedGen

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOC
(E120fs)
Deletion
(frameshift variant)
Glaucoma 1, open angle, A
GUncertain significance
MYOC
(R158*)
Single nucleotide variant
(nonsense)
Glaucoma 1, open angle, A
+1 more
GUncertain significance
MYOC
(N450S)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GUncertain significanceFDA Recognized
database
MYOC
(F430L)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(Q282fs)
Deletion
(frameshift variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(E176fs)
Deletion
(frameshift variant)
Glaucoma 1, open angle, E
GUncertain significanceFDA Recognized
database
MYOC
(T377M)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
(E300*)
Single nucleotide variant
(nonsense)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(splice donor variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(Y479H)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significanceFDA Recognized
database
MYOC
(F11L)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(T293K)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
MYOC
(G12R)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
MYOC
(T204M)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
MYOC
(D208E)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
MYOC
(E352K)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
MYOC
(Q424H)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(E218K)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
MYOC
(V449I)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 1, open angle, A
+1 more
GBenign
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
MYOC
(R158Q)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
MYOC
Single nucleotide variant
(3 prime UTR variant)
Glaucoma
+1 more
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
MYOC
(E385K)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significanceFDA Recognized
database
MYOC
(K398R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
MYOC
(Q75R)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(T80N)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(L102M)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(E112G)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(R147Q)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
MYOC
(D190Y)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
GUncertain significanceFDA Recognized
database
MYOC
(T243N)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(D289N)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
(V291I)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
MYOC
(S331L)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significanceFDA Recognized
database
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
MYOC
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 1, open angle, A
+1 more
GUncertain significance
MYOC
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 1, open angle, A
+1 more
GUncertain significance
MYOC
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 1, open angle, A
+1 more
GUncertain significance
MYOC
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
MYOC
Single nucleotide variant
(3 prime UTR variant)
Glaucoma
+1 more
GUncertain significance
MYOC
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 1, open angle, A
+1 more
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
MYOC
(R76K)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
(I477N)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenicFDA Recognized
database
MYOC
(D380H)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenicFDA Recognized
database
MYOC
(G252R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenicFDA Recognized
database
MYOC
(C245Y)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significanceFDA Recognized
database
MYOC
(Q48H)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
(C433R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
(R46*)
Single nucleotide variant
(nonsense)
Glaucoma of childhood
MYOC
(K423E)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenicFDA Recognized
database
MYOC
(Q337R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significanceFDA Recognized
database
MYOC
(G367R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
(N480K)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
(I477S)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significanceFDA Recognized
database
MYOC
(Q368*)
Single nucleotide variant
(nonsense)
Glaucoma of childhood
MYOC
(P370L)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
MYOC
(G364V)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenicFDA Recognized
database
MYOC
(Y437H)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
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