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Items: 1 to 100 of 495

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
AGAP4, AGAP9
+1221 more
Copy number gain
See cases
GBenign
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+388 more
Copy number loss
See cases
GPathogenic
BEND7, BEND7-DT
+69 more
Copy number loss
See cases
GLikely pathogenic
LOC130003370, OPTN
Single nucleotide variant
Amyotrophic Lateral Sclerosis, Recessive
+1 more
GLikely benign
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GUncertain significance
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GBenign
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GUncertain significance
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GBenign
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GBenign
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GUncertain significance
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GBenign
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GUncertain significance
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GBenign
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 12
+1 more
GUncertain significance
LOC130003370, OPTN
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 12
+1 more
GUncertain significance
LOC130003370, OPTN
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+1 more
GBenign/Likely benign
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC108903148, OPTN
Microsatellite
(intron variant)
not provided
GBenign
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC108903148, OPTN
Microsatellite
(intron variant)
not provided
GBenign
LOC108903148, OPTN
Microsatellite
(intron variant)
not provided
GBenign
LOC108903148, OPTN
Insertion
(intron variant)
not provided
GLikely benign
OPTN, LOC108903148
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC108903148, LOC108903149
+2 more
Deletion
Primary open angle glaucoma
+2 more
GPathogenic
LOC108903148, OPTN
Single nucleotide variant
(5 prime UTR variant)
Primary open angle glaucoma
+1 more
GUncertain significance
LOC108903148, LOC108903149
+5 more
Deletion
Amyotrophic lateral sclerosis type 12
+2 more
GPathogenic
LOC108903148, OPTN
(M1K)
Single nucleotide variant
(missense variant +1 more)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(H3Y)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(P5R)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
LOC108903148, OPTN
(L6F)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(L6P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108903148, OPTN
(L6R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 12
+1 more
GUncertain significance
LOC108903148, OPTN
Indel
(missense variant)
not provided
GUncertain significance
LOC108903148, OPTN
(E13V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 12
+2 more
GUncertain significance
LOC108903148, OPTN
(P16A)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+5 more
GUncertain significance
LOC108903148, OPTN
(S17N)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
OPTN, LOC108903148
(H26fs)
Duplication
(frameshift variant)
OPTN-related disorder
+4 more
GPathogenic/Likely pathogenic
LOC108903148, OPTN
(H26fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
LOC108903148, OPTN
(H26N)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(H26D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 12
+2 more
GUncertain significance
LOC108903148, OPTN
(H26P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
OPTN, LOC108903148
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC108903148, OPTN
Single nucleotide variant
(synonymous 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, LOC108903148
(T34M)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 12
+4 more
GBenign
LOC108903148, OPTN
(P37L)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
OPTN-related disorder
GLikely benign
LOC108903148, OPTN
(E38G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
LOC108903148, OPTN
(Q43*)
Single nucleotide variant
(nonsense)
Glaucoma 1, open angle, E
+4 more
GConflicting classifications of pathogenicity
OPTN, LOC108903148
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+3 more
GBenign/Likely benign
OPTN, LOC108903148
(E50K)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GPathogenic
LOC108903148, OPTN
(H52Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
Primary open angle glaucoma
+2 more
GLikely benign
LOC108903148, OPTN
(K55fs)
Duplication
(frameshift variant)
Amyotrophic lateral sclerosis type 12
+2 more
GPathogenic
LOC108903148, OPTN
(L54Q)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPTN, LOC108903148
Single nucleotide variant
(intron variant)
Primary open angle glaucoma
+3 more
GBenign
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC108903148, LOC108903149
+1 more
Deletion
(splice acceptor variant +1 more)
Amyotrophic lateral sclerosis type 12
GPathogenic
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC108903148, OPTN
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC108903148, OPTN
(K59N)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+3 more
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC108903148, OPTN
(M65T)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
LOC108903148, OPTN
(G67E)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
Glaucoma 1, open angle, E
+2 more
GLikely benign
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 12
+2 more
GLikely benign
OPTN, LOC108903148
(T76A)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
+2 more
GUncertain significance
LOC108903148, OPTN
(Q79*)
Single nucleotide variant
(nonsense)
Glaucoma 1, open angle, E
+2 more
GPathogenic
LOC108903148, OPTN
(Q79P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108903148, OPTN
(Q79R)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GLikely pathogenic
LOC108903148, OPTN
(E81*)
Single nucleotide variant
(nonsense)
Primary open angle glaucoma
+2 more
GPathogenic
LOC108903148, OPTN
(R83C)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(R83H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108903148, OPTN
(F85C)
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
LOC108903148, OPTN
(I88T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC108903148, OPTN
Single nucleotide variant
(synonymous variant)
OPTN-related disorder
GLikely benign
LOC108903148, OPTN
(E92V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
+4 more
GUncertain significance
OPTN, LOC108903148
(K94Q)
Single nucleotide variant
(missense variant)
Motor neuron disease
GLikely pathogenic
OPTN, LOC108903148
(R96H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 12
+3 more
GUncertain significance
LOC108903148, OPTN
(M98K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
LOC108903148, OPTN
(A99S)
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
LOC108903148, OPTN
(S118P)
Single nucleotide variant
(missense variant)
Primary open angle glaucoma
+2 more
GUncertain significance
LOC108903148, OPTN
(R120G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LOC108903148, OPTN
(R120K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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
(splice donor variant)
Glaucoma 1, open angle, E
+2 more
GLikely pathogenic
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