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Links from MedGen

Items: 1 to 100 of 337

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPTN
(K448E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 12
GUncertain significance
OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(K378E)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(E123A)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
LOC108903148, OPTN
(D33H)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(T318R)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(A433V)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(V147E)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(K440R)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(M1K)
Single nucleotide variant
(missense variant +1 more)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(S118P)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(H197N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
OPTN
(Q138K)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(K140fs)
Insertion
(frameshift variant)
Primary open angle glaucoma
+2 more
GPathogenic
OPTN
(S206A)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(Q151fs)
Duplication
(frameshift variant)
Primary open angle glaucoma
+2 more
GPathogenic
OPTN
Indel
(intron variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(M368fs)
Deletion
(frameshift variant)
Primary open angle glaucoma
+2 more
GPathogenic
OPTN
(H486Y)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(N341I)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(R260K)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN, LOC108903148
(T34M)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GBenign
OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(K557R)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(E175fs)
Deletion
(frameshift variant)
Primary open angle glaucoma
+2 more
GPathogenic
LOC108903148, OPTN
(E81*)
Single nucleotide variant
(nonsense)
Primary open angle glaucoma
+2 more
GPathogenic
OPTN
(D445fs)
Duplication
(frameshift variant)
Primary open angle glaucoma
+2 more
GPathogenic
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(R520fs)
Duplication
(frameshift variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(N503K)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(H3Y)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(L363P)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(K557T)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(G200R)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(C575Y)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(R520C)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(S212Y)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+3 more
GLikely benign
OPTN
(T126N)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+3 more
GUncertain significance
OPTN
(K417T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
OPTN
Deletion
Primary open angle glaucoma
+2 more
GLikely pathogenic
OPTN
Duplication
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Duplication
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Deletion
Primary open angle glaucoma
+2 more
GPathogenic
OPTN
Deletion
Primary open angle glaucoma
+2 more
GPathogenic
OPTN
Deletion
Primary open angle glaucoma
+2 more
GPathogenic
LOC108903148, OPTN
(L6F)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(Q518*)
Single nucleotide variant
(nonsense)
Glaucoma 1, open angle, E
+2 more
GPathogenic
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
OPTN
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
OPTN
(E490K)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
OPTN
(A155S)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
(V572M)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GLikely benign
OPTN
Deletion
(intron variant)
Primary open angle glaucoma
+2 more
GBenign
LOC108903148, OPTN
(G67E)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(S234N)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
LOC108903148, OPTN
(S17N)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(I451T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LOC108903148, OPTN
(E103D)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
Microsatellite
(splice donor variant)
Primary open angle glaucoma
+2 more
GLikely pathogenic
OPTN
(R217*)
Single nucleotide variant
(nonsense)
Primary open angle glaucoma
+2 more
GPathogenic
OPTN
(H400Y)
Inversion
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(V179D)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(L568F)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN
(K223fs)
Deletion
(frameshift variant)
Glaucoma 1, open angle, E
+2 more
GPathogenic
OPTN
(D445H)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
LOC108903148, OPTN
Single nucleotide variant
(splice donor variant)
Glaucoma 1, open angle, E
+2 more
GLikely pathogenic
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
OPTN
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
LOC108903148, OPTN
(M65T)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
LOC108903148, OPTN
(P37L)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
OPTN
(S519N)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
LOC108903148, OPTN
(Q79*)
Single nucleotide variant
(nonsense)
Glaucoma 1, open angle, E
+2 more
GPathogenic
OPTN
Single nucleotide variant
(intron variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
OPTN
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
OPTN
(Q546*)
Single nucleotide variant
(nonsense)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
OPTN
(D504Y)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
OPTN
(R215K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 12
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 12
+2 more
GLikely benign
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Choose Destination