U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOC
(E120fs)
Deletion
(frameshift variant)
Glaucoma 1, open angle, A
GUncertain significance
MYOC
(N450S)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GUncertain significance
MYOC
(F430L)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
(Q282fs)
Deletion
(frameshift variant)
Open-angle glaucoma
GUncertain significance
MYOC
(E176fs)
Deletion
(frameshift variant)
Glaucoma 1, open angle, E
GUncertain significance
MYOC
(T377M)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GPathogenic
MYOC
(E300*)
Single nucleotide variant
(nonsense)
Open-angle glaucoma
GUncertain significance
MYOC
Single nucleotide variant
(splice donor variant)
Open-angle glaucoma
GUncertain significance
MYOC
(Y479H)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significance
MYOC
(F11L)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GUncertain significance
MYOC
(T293K)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GLikely benign
MYOC
(G12R)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GLikely benign
MYOC
(T204M)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GLikely benign
MYOC
(D208E)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GLikely benign
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GLikely benign
MYOC
(E352K)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GBenign
MYOC
(Q424H)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
(E218K)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GLikely benign
MYOC
(V449I)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
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
GLikely benign
MYOC
(R158Q)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely benign
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
GLikely benign
MYOC
Single nucleotide variant
(3 prime UTR variant)
Glaucoma
+1 more
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GBenign
MYOC
(E385K)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significance
MYOC
(K398R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely benign
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
GBenign
MYOC
Single nucleotide variant
(synonymous variant)
Open-angle glaucoma
GLikely benign
MYOC
(Q75R)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
(T80N)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
(L102M)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
(E112G)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
(R147Q)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GLikely benign
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
GBenign
MYOC
(D190Y)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
GUncertain significance
MYOC
(T243N)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
(D289N)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
(V291I)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
GBenign
MYOC
(S331L)
Single nucleotide variant
(missense variant)
Open-angle glaucoma
GUncertain significance
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
GBenign
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
GBenign
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)
Glaucoma 1, open angle, A
+1 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
GBenign
MYOC
Single nucleotide variant
(synonymous variant)
Glaucoma of childhood
GLikely benign
MYOC
(R76K)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GBenign
MYOC
(I477N)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenic
MYOC
(D380H)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenic
MYOC
(G252R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenic
MYOC
(C245Y)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significance
MYOC
(Q48H)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely benign
MYOC
(C433R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GPathogenic
MYOC
(R46*)
Single nucleotide variant
(nonsense)
Glaucoma of childhood
GLikely benign
MYOC
(K423E)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenic
MYOC
(Q337R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significance
MYOC
(G367R)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GPathogenic
MYOC
(N480K)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GPathogenic
MYOC
(I477S)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GUncertain significance
MYOC
(Q368*)
Single nucleotide variant
(nonsense)
Glaucoma of childhood
GPathogenic
MYOC
(P370L)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GPathogenic
MYOC
(G364V)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GLikely pathogenic
MYOC
(Y437H)
Single nucleotide variant
(missense variant)
Glaucoma of childhood
GPathogenic
Format
Items per page
Sort by
Choose Destination