OPTN — 484 ClinVar variants

All ClinVar germline OPTN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →

25 Pathogenic · 10 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 19 Conflicting · 36 Benign · 9 Benign/Likely benign · 124 Likely benign · 240 Uncertain significance

Full OPTN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 181

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 6

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

OPTN p.Arg271His Conflicting Single submitter
Inborn genetic diseases
OPTN p.Arg545Gln Conflicting Single submitter
Glaucoma 1, open angle, E
OPTN p.Arg545Trp Conflicting Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Glu289Asp Conflicting Single submitter
Inborn genetic diseases
OPTN p.His197Asn Conflicting Single submitter
Inborn genetic diseases
OPTN p.Met468Arg Conflicting Single submitter
motor neuron disorder

Predictors lean, ClinVar uncertain 141

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

OPTN p.Ala136Val Uncertain significance Multiple submitters
Glaucoma 1, open angle, E
OPTN p.Ala155Ser Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Ala210Thr Uncertain significance Multiple submitters
OPTN-related disorder
OPTN p.Ala466Ser Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Arg120Gly Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Arg120Lys Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Arg133Lys Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Arg271Pro Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Arg548Gln Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Arg548Leu Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Arg548Trp Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Arg96His Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Asn401Asp Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Asn503Lys Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Gln530Lys Uncertain significance Multiple submitters
OPTN-related disorder
OPTN p.Glu135Ala Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Glu135Lys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 12
OPTN p.Glu298Lys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis
OPTN p.His228Tyr Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.His317Arg Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Leu304Phe Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 12
OPTN p.Leu410Pro Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Leu54Gln Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Lys223Asn Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Lys327Arg Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Lys417Thr Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Lys489Glu Uncertain significance Multiple submitters
Glaucoma 1, open angle, E
OPTN p.Met444Val Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Pro292Leu Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Pro563Leu Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Ser129Ala Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Thr126Asn Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Thr209Met Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Val572Met Uncertain significance Multiple submitters
Glaucoma 1, open angle, E
OPTN p.Ala323Pro Uncertain significance Single submitter
OPTN p.Ala336Ser Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Ala343Ser Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Ala497Gly Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Ala497Thr Uncertain significance Single submitter
OPTN p.Ala523Val Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Arg130Lys Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Arg133Thr Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Arg203Ser Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Arg203Thr Uncertain significance Single submitter
OPTN-related disorder
OPTN p.Arg215Lys Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Arg260Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Arg271Cys Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Asn341Ile Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Asn349Ser Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Asn394Thr Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Asn503Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Asp474Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Asp504Tyr Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Asp564Gly Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Cys558Phe Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Cys575Tyr Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Gln138Lys Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Gln390Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Gln398Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Gln42Pro Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Gln443Lys Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Gln467Arg Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Gln491Glu Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Gln569His Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Gln79Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Gln84His Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Glu187Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Glu227Lys Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Glu283Gln Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Glu300Gln Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Glu300Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Glu446Gly Uncertain significance Single submitter
motor neuron disorder
OPTN p.Glu487Lys Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Glu490Lys Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Glu516Gln Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Glu540Gln Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Glu540Lys Uncertain significance Single submitter
OPTN p.Gly172Ser Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Gly190Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Gly200Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Gly208Asp Uncertain significance Single submitter
OPTN p.Gly280Ala Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Gly509Arg Uncertain significance Single submitter
OPTN p.Gly538Glu Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.His197Gln Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.His571Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis
OPTN p.Ile344Val Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Leu238Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Leu250Pro Uncertain significance Single submitter
OPTN-related disorder
OPTN p.Leu313Phe Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Leu32Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Leu330His Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Leu337Pro Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Leu363Pro Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Leu432Val Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Leu492Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Leu494Met Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Leu568Phe Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Leu6Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Leu6Phe Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Lys267Glu Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Lys385Arg Uncertain significance Single submitter
OPTN p.Lys440Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Lys557Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Met447Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Met468Val Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Phe226Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Pro125Ala Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Pro37Leu Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Pro556Ser Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Pro5Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Ser118Pro Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Ser129Pro Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Ser17Asn Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Ser206Ala Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Ser206Phe Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Ser212Tyr Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Ser321Cys Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Ser415Ala Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Ser519Asn Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Thr126Ile Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Thr145Ala Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Thr202Lys Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Thr202Met Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Thr207Ala Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Thr318Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Thr318Ile Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Thr392Ala Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Thr76Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Tyr533Asp Uncertain significance Single submitter
OPTN-related disorder
OPTN p.Val147Ala Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Val147Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Val147Leu Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Val252Leu Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Val295Phe Uncertain significance Single submitter
frontotemporal dementia
OPTN p.Val418Ala Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Val422Leu Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Val498Leu Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Val535Leu Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Arg144Gly Uncertain significance No assertion criteria
OPTN-related disorder
OPTN p.Asp141Glu Uncertain significance No assertion criteria
OPTN-related disorder

Predictors split 34

The independent predictors disagree with each other — read with care.

OPTN p.Ala481Val Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Gln142Pro Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.His486Arg Uncertain significance Multiple submitters
Inborn genetic diseases
OPTN p.Ile407Thr Uncertain significance Multiple submitters
OPTN-related open angle glaucoma
OPTN p.Ile451Thr Uncertain significance Multiple submitters
Glaucoma 1, open angle, E
OPTN p.Ala481Thr Uncertain significance Single submitter
OPTN p.Arg149Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis
OPTN p.Arg520Cys Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Asp445His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Cys472Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Gln305Arg Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Gln314Leu Conflicting Single submitter
Glaucoma 1, open angle, E
OPTN p.Gln569Arg Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Glu163Asp Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Glu312Lys Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Glu483Gln Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Gly159Arg Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.His228Pro Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.His317Asp Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.His486Tyr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.His521Arg Uncertain significance Single submitter
Glaucoma 1, open angle, E
OPTN p.Ile463Thr Uncertain significance Single submitter
OPTN p.Ile577Thr Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Leu494Trp Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Lys319Asn Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Lys378Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Lys385Ile Uncertain significance Single submitter
OPTN p.Lys448Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 12
OPTN p.Met461Thr Uncertain significance Single submitter
Inborn genetic diseases
OPTN p.Thr567Met Uncertain significance Single submitter
OPTN p.Val179Asp Uncertain significance Single submitter
OPTN-related open angle glaucoma
OPTN p.Glu50Lys Pathogenic No assertion criteria
Glaucoma 1, open angle, E
OPTN p.Val179Ala Uncertain significance No assertion criteria
OPTN-related disorder
OPTN p.Val418Gly Uncertain significance No assertion criteria
OPTN-related disorder

All OPTN variants

Pathogenic 25

p.Gln335Ter Multiple submitters Inborn genetic diseases
p.Glu135Ter Multiple submitters amyotrophic lateral sclerosis type 12
p.Ser262Ter Multiple submitters amyotrophic lateral sclerosis type 12
p.Arg217Ter Single submitter OPTN-related open angle glaucoma
p.Arg329fs Single submitter amyotrophic lateral sclerosis type 12
p.Asn401fs Single submitter amyotrophic lateral sclerosis type 12
p.Asp124fs Single submitter
p.Asp445fs Single submitter OPTN-related open angle glaucoma
p.Gln151fs Single submitter OPTN-related open angle glaucoma
p.Gln518Ter Single submitter Glaucoma 1, open angle, E
p.Gln53Ter Single submitter OPTN-related open angle glaucoma
p.Glu175fs Single submitter amyotrophic lateral sclerosis type 12
p.Glu414Ter Single submitter Glaucoma 1, open angle, E
p.Glu478Gly Single submitter amyotrophic lateral sclerosis type 12
p.Leu430fs Single submitter OPTN-related open angle glaucoma
p.Lys140fs Single submitter OPTN-related open angle glaucoma
p.Lys223fs Single submitter amyotrophic lateral sclerosis type 12
p.Lys429fs Single submitter Glaucoma 1, open angle, E
p.Lys440fs Single submitter
p.Lys55fs Single submitter OPTN-related open angle glaucoma
p.Met368fs Single submitter OPTN-related open angle glaucoma
p.Thr406fs Single submitter amyotrophic lateral sclerosis type 12
c.1242+1G>A No assertion criteria
p.Gln398Ter No assertion criteria amyotrophic lateral sclerosis type 12
p.Glu50Lys No assertion criteria Glaucoma 1, open angle, E ⚠

Pathogenic/Likely pathogenic 10

p.Ala436fs Multiple submitters OPTN-related open angle glaucoma
p.Asn401_Asn402insTer Multiple submitters OPTN-related disorder
p.Asp128fs Multiple submitters OPTN-related open angle glaucoma
p.Gln165Ter Multiple submitters amyotrophic lateral sclerosis type 12
p.Gln79Ter Multiple submitters Glaucoma 1, open angle, E
p.Glu189Ter Multiple submitters
p.Glu399Ter Multiple submitters OPTN-related open angle glaucoma
p.Glu414fs Multiple submitters amyotrophic lateral sclerosis type 12
p.Lys360fs Multiple submitters OPTN-related open angle glaucoma
p.Thr307fs Multiple submitters OPTN-related open angle glaucoma

Likely pathogenic 21

c.1149-2A>G Multiple submitters Glaucoma 1, open angle, E
c.626+1G>A Multiple submitters Glaucoma 1, open angle, E
c.780-2A>C Multiple submitters amyotrophic lateral sclerosis type 12
p.Thr126fs Multiple submitters
c.1401+1G>A Single submitter amyotrophic lateral sclerosis type 12
c.1402-1G>A Single submitter amyotrophic lateral sclerosis type 12
c.369+2T>C Single submitter amyotrophic lateral sclerosis type 12
c.370-1G>A Single submitter OPTN-related open angle glaucoma
c.552+2T>G Single submitter OPTN-related disorder
c.780-1G>C Single submitter OPTN-related open angle glaucoma
c.882+2_882+3del Single submitter OPTN-related open angle glaucoma
p.Arg260fs Single submitter
p.Gln146Ter Single submitter amyotrophic lateral sclerosis type 12
p.Gln467Pro Single submitter amyotrophic lateral sclerosis type 12
p.Glu293fs Single submitter amyotrophic lateral sclerosis type 12
p.Glu431Ter Single submitter
p.Ile485fs Single submitter
p.Lys557Thr Single submitter OPTN-related open angle glaucoma
p.Val306_Thr307insTer Single submitter amyotrophic lateral sclerosis type 12
p.Gln314fs No assertion criteria OPTN-related disorder
p.Ile344fs No assertion criteria OPTN-related disorder

Conflicting classifications of pathogenicity 19

c.1401+4A>G Single submitter amyotrophic lateral sclerosis type 12
c.882+3G>A Single submitter amyotrophic lateral sclerosis type 12
c.*1251C>G Single submitter OPTN-related open angle glaucoma
p.Ala523= Single submitter Inborn genetic diseases
p.Arg271His Single submitter Inborn genetic diseases ⚠
p.Arg520His Single submitter Inborn genetic diseases
p.Arg545Gln Single submitter Glaucoma 1, open angle, E ⚠
p.Arg545Trp Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Asp527_Ser528insTer Single submitter OPTN-related open angle glaucoma
p.Gln235Ter Single submitter OPTN-related disorder
p.Gln314Leu Single submitter Glaucoma 1, open angle, E ⚠
p.Gln4= Single submitter OPTN-related open angle glaucoma
p.Glu163= Single submitter OPTN-related open angle glaucoma
p.Glu289Asp Single submitter Inborn genetic diseases ⚠
p.His197Asn Single submitter Inborn genetic diseases ⚠
p.Met468Arg Single submitter motor neuron disorder ⚠
p.Ser191= Single submitter Glaucoma 1, open angle, E
p.Val147= Single submitter Glaucoma 1, open angle, E
p.Val148= Single submitter Inborn genetic diseases

Benign 36

c.1149-86G>T Multiple submitters
c.1612+101A>C Multiple submitters
c.1613-48C>A Multiple submitters
c.369+39T>G Multiple submitters OPTN-related open angle glaucoma
c.553-10G>A Multiple submitters OPTN-related open angle glaucoma
c.553-5C>T Multiple submitters Glaucoma 1, open angle, E
c.626+24G>A Multiple submitters OPTN-related open angle glaucoma
c.779+201A>G Multiple submitters
c.779+20G>A Multiple submitters OPTN-related open angle glaucoma
c.779+274G>T Multiple submitters
c.780-53T>C Multiple submitters
c.882+109A>G Multiple submitters
c.882+196G>T Multiple submitters
c.-161T>C Multiple submitters OPTN-related open angle glaucoma
c.-215G>A Multiple submitters amyotrophic lateral sclerosis type 12
c.*1421T>G Multiple submitters
p.Glu322= Multiple submitters OPTN-related open angle glaucoma
p.Glu322Lys Multiple submitters amyotrophic lateral sclerosis type 12
p.Thr34= Multiple submitters OPTN-related open angle glaucoma
c.1148+13A>G Single submitter OPTN-related open angle glaucoma
c.1242+259dup Single submitter
c.1243-233T>G Single submitter
c.1402-11del Single submitter Glaucoma 1, open angle, E
c.1402-11dup Single submitter OPTN-related open angle glaucoma
c.1402-253A>G Single submitter
c.1402-7C>T Single submitter amyotrophic lateral sclerosis type 12
c.1612+279G>C Single submitter
c.1613-248C>T Single submitter
c.779+124A>C Single submitter
c.780-260A>T Single submitter
c.780-54A>G Single submitter
c.998+296G>C Single submitter
c.998+319T>G Single submitter
c.-255C>G Single submitter OPTN-related open angle glaucoma
c.-274C>A Single submitter OPTN-related open angle glaucoma
p.Glu259Asp Single submitter OPTN-related open angle glaucoma

Benign/Likely benign 9

c.1612+10G>A Multiple submitters OPTN-related open angle glaucoma
c.627-10T>C Multiple submitters Glaucoma 1, open angle, E
c.*269C>T Multiple submitters OPTN-related open angle glaucoma
p.Ala134= Multiple submitters Inborn genetic diseases
p.Arg149= Multiple submitters OPTN-related open angle glaucoma
p.Pro292= Multiple submitters OPTN-related open angle glaucoma
p.Ser321= Multiple submitters Glaucoma 1, open angle, E
p.Thr49= Multiple submitters OPTN-related open angle glaucoma
c.*562T>G Single submitter OPTN-related open angle glaucoma

Likely benign 124

c.166+154A>C Multiple submitters
c.779+10A>G Multiple submitters OPTN-related open angle glaucoma
c.883-33G>A Multiple submitters
p.Ala136= Multiple submitters amyotrophic lateral sclerosis type 12
p.Asn303Lys Multiple submitters OPTN-related open angle glaucoma
p.Leu164= Multiple submitters amyotrophic lateral sclerosis type 12
p.Leu369= Multiple submitters amyotrophic lateral sclerosis type 12
p.Leu442= Multiple submitters OPTN-related open angle glaucoma
p.Lys440= Multiple submitters OPTN-related open angle glaucoma
p.Phe226= Multiple submitters amyotrophic lateral sclerosis type 12
p.Ser171= Multiple submitters OPTN-related open angle glaucoma
p.Ser346= Multiple submitters OPTN-related open angle glaucoma
p.Thr202= Multiple submitters OPTN-related open angle glaucoma
p.Tyr225= Multiple submitters amyotrophic lateral sclerosis type 12
c.1148+11T>A Single submitter amyotrophic lateral sclerosis type 12
c.1148+75G>A Single submitter
c.1149-13T>A Single submitter OPTN-related open angle glaucoma
c.1149-89A>G Single submitter
c.1242+202G>T Single submitter
c.1242+244_1242+245insCTTTTTTT Single submitter
c.1243-11T>G Single submitter OPTN-related open angle glaucoma
c.1243-13G>A Single submitter Glaucoma 1, open angle, E
c.1243-293A>G Single submitter
c.1243-299T>A Single submitter
c.1243-4T>G Single submitter Glaucoma 1, open angle, E
c.1243-73C>A Single submitter
c.1401+19C>T Single submitter OPTN-related open angle glaucoma
c.1401+21C>G Single submitter OPTN-related open angle glaucoma
c.1401+9C>T Single submitter Glaucoma 1, open angle, E
c.1532+10AG[3] Single submitter Glaucoma 1, open angle, E
c.1532+14A>G Single submitter OPTN-related open angle glaucoma
c.1533-10G>A Single submitter OPTN-related open angle glaucoma
c.1533-49T>C Single submitter
c.1612+17C>A Single submitter OPTN-related open angle glaucoma
c.1612+17C>T Single submitter OPTN-related open angle glaucoma
c.1612+192C>T Single submitter
c.1612+9C>T Single submitter amyotrophic lateral sclerosis type 12
c.1613-13T>C Single submitter OPTN-related open angle glaucoma
c.166+15C>A Single submitter OPTN-related open angle glaucoma
c.166+9G>A Single submitter OPTN-related open angle glaucoma
c.369+11C>G Single submitter Glaucoma 1, open angle, E
c.369+11C>T Single submitter OPTN-related open angle glaucoma
c.370-13T>C Single submitter OPTN-related open angle glaucoma
c.370-13T>G Single submitter Glaucoma 1, open angle, E
c.370-14C>G Single submitter
c.370-283del Single submitter
c.552+11G>C Single submitter OPTN-related open angle glaucoma
c.553-12C>T Single submitter OPTN-related open angle glaucoma
c.553-17C>T Single submitter OPTN-related open angle glaucoma
c.626+14G>A Single submitter amyotrophic lateral sclerosis type 12
c.626+17T>A Single submitter amyotrophic lateral sclerosis type 12
c.626+18C>T Single submitter OPTN-related open angle glaucoma
c.627-16C>T Single submitter OPTN-related open angle glaucoma
c.627-234T>C Single submitter
c.627-7T>C Single submitter amyotrophic lateral sclerosis type 12
c.882+11A>C Single submitter
c.882+19C>T Single submitter OPTN-related open angle glaucoma
c.882+20G>A Single submitter OPTN-related open angle glaucoma
c.883-10C>G Single submitter OPTN-related open angle glaucoma
c.883-10C>T Single submitter OPTN-related open angle glaucoma
c.883-17G>T Single submitter amyotrophic lateral sclerosis type 12
c.883-6T>C Single submitter OPTN-related open angle glaucoma
c.883-9G>A Single submitter OPTN-related open angle glaucoma
c.998+189G>A Single submitter
c.998+18A>G Single submitter Glaucoma 1, open angle, E
c.998+19T>C Single submitter OPTN-related open angle glaucoma
c.999-16T>A Single submitter OPTN-related open angle glaucoma
c.999-16T>C Single submitter OPTN-related open angle glaucoma
c.999-183G>A Single submitter
c.999-20G>A Single submitter amyotrophic lateral sclerosis type 12
c.999-312G>A Single submitter
c.-11-76A>G Single submitter
p.Ala253= Single submitter Glaucoma 1, open angle, E
p.Ala343= Single submitter
p.Ala481= Single submitter OPTN-related open angle glaucoma
p.Arg548= Single submitter amyotrophic lateral sclerosis type 12
p.Asn286Lys Single submitter Inborn genetic diseases
p.Asp176= Single submitter OPTN-related open angle glaucoma
p.Asp381= Single submitter
p.Asp564= Single submitter
p.Asp574= Single submitter OPTN-related open angle glaucoma
p.Cys558= Single submitter OPTN-related open angle glaucoma
p.Gln376= Single submitter Glaucoma 1, open angle, E
p.Gln390= Single submitter OPTN-related open angle glaucoma
p.Gln443= Single submitter Glaucoma 1, open angle, E
p.Glu194= Single submitter amyotrophic lateral sclerosis type 12
p.Glu300= Single submitter
p.Glu87= Single submitter OPTN-related open angle glaucoma
p.Gly243= Single submitter OPTN-related open angle glaucoma
p.His26= Single submitter OPTN-related open angle glaucoma
p.His393= Single submitter
p.His476= Single submitter OPTN-related open angle glaucoma
p.His571= Single submitter amyotrophic lateral sclerosis type 12
p.Ile160= Single submitter OPTN-related open angle glaucoma
p.Ile274= Single submitter amyotrophic lateral sclerosis type 12
p.Leu150= Single submitter OPTN-related open angle glaucoma
p.Leu211= Single submitter amyotrophic lateral sclerosis type 12
p.Leu240= Single submitter OPTN-related open angle glaucoma
p.Leu254= Single submitter amyotrophic lateral sclerosis type 12
p.Leu423= Single submitter amyotrophic lateral sclerosis type 12
p.Leu458= Single submitter
p.Lys359= Single submitter OPTN-related open angle glaucoma
p.Pro199= Single submitter amyotrophic lateral sclerosis type 12
p.Pro551= Single submitter OPTN-related open angle glaucoma
p.Ser218= Single submitter OPTN-related open angle glaucoma
p.Ser281= Single submitter OPTN-related open angle glaucoma
p.Ser297= Single submitter amyotrophic lateral sclerosis type 12
p.Ser308= Single submitter Glaucoma 1, open angle, E
p.Ser526= Single submitter OPTN-related open angle glaucoma
p.Thr145= Single submitter OPTN-related open angle glaucoma
p.Thr204= Single submitter OPTN-related open angle glaucoma
p.Thr207= Single submitter Glaucoma 1, open angle, E
p.Thr268= Single submitter OPTN-related open angle glaucoma
p.Thr318= Single submitter OPTN-related open angle glaucoma
p.Thr357= Single submitter OPTN-related open angle glaucoma
p.Thr462= Single submitter OPTN-related open angle glaucoma
p.Val418= Single submitter OPTN-related open angle glaucoma
c.553-6T>G No assertion criteria OPTN-related disorder
c.627-8C>T No assertion criteria OPTN-related disorder
c.779+4T>C No assertion criteria OPTN-related disorder
p.Glu256= No assertion criteria OPTN-related disorder
p.Glu478= No assertion criteria OPTN-related disorder
p.Gly190= No assertion criteria OPTN-related disorder
p.Gly559= No assertion criteria OPTN-related disorder

Uncertain significance 240

c.1402-3C>G Multiple submitters Inborn genetic diseases
c.1533-3C>T Multiple submitters amyotrophic lateral sclerosis type 12
c.626+5del Multiple submitters OPTN-related open angle glaucoma
c.882+5G>C Multiple submitters Inborn genetic diseases
p.Ala136Val Multiple submitters Glaucoma 1, open angle, E ⚠
p.Ala155Ser Multiple submitters OPTN-related open angle glaucoma ⚠
p.Ala210Thr Multiple submitters OPTN-related disorder ⚠
p.Ala433Val Multiple submitters amyotrophic lateral sclerosis type 12
p.Ala466Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala481Val Multiple submitters OPTN-related open angle glaucoma ⚠
p.Ala523Glu Multiple submitters amyotrophic lateral sclerosis type 12
p.Arg120Gly Multiple submitters OPTN-related open angle glaucoma ⚠
p.Arg120Lys Multiple submitters OPTN-related open angle glaucoma ⚠
p.Arg133Lys Multiple submitters OPTN-related open angle glaucoma ⚠
p.Arg271Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg548Gln Multiple submitters OPTN-related open angle glaucoma ⚠
p.Arg548Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg548Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg96His Multiple submitters Inborn genetic diseases ⚠
p.Asn401Asp Multiple submitters OPTN-related open angle glaucoma ⚠
p.Asn503Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln142Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln530Lys Multiple submitters OPTN-related disorder ⚠
p.Glu135Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu135Lys Multiple submitters amyotrophic lateral sclerosis type 12 ⚠
p.Glu298Lys Multiple submitters amyotrophic lateral sclerosis ⚠
p.Gly186del Multiple submitters Inborn genetic diseases
p.His228Tyr Multiple submitters OPTN-related open angle glaucoma ⚠
p.His317Arg Multiple submitters Inborn genetic diseases ⚠
p.His486Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile407Thr Multiple submitters OPTN-related open angle glaucoma ⚠
p.Ile451Thr Multiple submitters Glaucoma 1, open angle, E ⚠
p.Leu304Phe Multiple submitters amyotrophic lateral sclerosis type 12 ⚠
p.Leu410Pro Multiple submitters OPTN-related open angle glaucoma ⚠
p.Leu54Gln Multiple submitters OPTN-related open angle glaucoma ⚠
p.Lys223Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys327Arg Multiple submitters OPTN-related open angle glaucoma ⚠
p.Lys417Thr Multiple submitters OPTN-related open angle glaucoma ⚠
p.Lys489Glu Multiple submitters Glaucoma 1, open angle, E ⚠
p.Met444Val Multiple submitters Inborn genetic diseases ⚠
p.Pro292Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro563Leu Multiple submitters OPTN-related open angle glaucoma ⚠
p.Ser129Ala Multiple submitters OPTN-related open angle glaucoma ⚠
p.Thr126Asn Multiple submitters OPTN-related open angle glaucoma ⚠
p.Thr209Met Multiple submitters Inborn genetic diseases ⚠
p.Val572Met Multiple submitters Glaucoma 1, open angle, E ⚠
c.1242+327C>T Single submitter OPTN-related open angle glaucoma
c.1242+6C>T Single submitter OPTN-related open angle glaucoma
c.1243-9C>A Single submitter OPTN-related open angle glaucoma
c.1401+4A>C Single submitter Inborn genetic diseases
c.1401+5G>A Single submitter Inborn genetic diseases
c.1533-3C>G Single submitter OPTN-related open angle glaucoma
c.1613-1G>A Single submitter OPTN-related open angle glaucoma
c.1613-3C>T Single submitter OPTN-related open angle glaucoma
c.552+5G>C Single submitter OPTN-related open angle glaucoma
c.553-6_553-5delinsGT Single submitter OPTN-related open angle glaucoma
c.626+4T>C Single submitter amyotrophic lateral sclerosis type 12
c.779+8A>G Single submitter Glaucoma 1, open angle, E
c.780-3C>T Single submitter OPTN-related open angle glaucoma
c.882+5G>A Single submitter OPTN-related open angle glaucoma
c.883-5G>A Single submitter Inborn genetic diseases
c.-250C>A Single submitter OPTN-related open angle glaucoma
c.-272G>T Single submitter OPTN-related open angle glaucoma
c.*1042T>G Single submitter OPTN-related open angle glaucoma
c.*1063C>A Single submitter OPTN-related open angle glaucoma
c.*1089G>A Single submitter OPTN-related open angle glaucoma
c.*1111A>C Single submitter OPTN-related open angle glaucoma
c.*1285T>C Single submitter amyotrophic lateral sclerosis type 12
c.*1385T>C Single submitter OPTN-related open angle glaucoma
c.*218G>C Single submitter OPTN-related open angle glaucoma
c.*222G>C Single submitter OPTN-related open angle glaucoma
c.*306G>A Single submitter OPTN-related open angle glaucoma
c.*335C>T Single submitter OPTN-related open angle glaucoma
c.*386C>A Single submitter OPTN-related open angle glaucoma
c.*413G>A Single submitter OPTN-related open angle glaucoma
c.*461G>A Single submitter OPTN-related open angle glaucoma
c.*631A>G Single submitter OPTN-related open angle glaucoma
c.*938C>G Single submitter OPTN-related open angle glaucoma
p.Ala323Pro Single submitter ⚠
p.Ala336Ser Single submitter OPTN-related open angle glaucoma ⚠
p.Ala343Ser Single submitter Inborn genetic diseases ⚠
p.Ala436Thr Single submitter
p.Ala438Thr Single submitter OPTN-related open angle glaucoma
p.Ala481Thr Single submitter ⚠
p.Ala497Gly Single submitter OPTN-related open angle glaucoma ⚠
p.Ala497Thr Single submitter ⚠
p.Ala523Val Single submitter OPTN-related open angle glaucoma ⚠
p.Arg130Lys Single submitter Inborn genetic diseases ⚠
p.Arg133Thr Single submitter OPTN-related open angle glaucoma ⚠
p.Arg149Ser Single submitter amyotrophic lateral sclerosis ⚠
p.Arg203Ser Single submitter OPTN-related open angle glaucoma ⚠
p.Arg203Thr Single submitter OPTN-related disorder ⚠
p.Arg215Lys Single submitter OPTN-related open angle glaucoma ⚠
p.Arg260Lys Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Arg271Cys Single submitter OPTN-related open angle glaucoma ⚠
p.Arg329Gly Single submitter OPTN-related open angle glaucoma
p.Arg520Cys Single submitter OPTN-related open angle glaucoma ⚠
p.Arg520fs Single submitter OPTN-related open angle glaucoma
p.Asn341Ile Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Asn349Ser Single submitter Inborn genetic diseases ⚠
p.Asn358Lys Single submitter OPTN-related open angle glaucoma
p.Asn394Thr Single submitter Inborn genetic diseases ⚠
p.Asn503Ser Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Asp445His Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Asp474Asn Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Asp504Tyr Single submitter OPTN-related open angle glaucoma ⚠
p.Asp543Leu Single submitter OPTN-related open angle glaucoma
p.Asp564Gly Single submitter OPTN-related open angle glaucoma ⚠
p.Cys472Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Cys558Phe Single submitter Inborn genetic diseases ⚠
p.Cys575Tyr Single submitter Glaucoma 1, open angle, E ⚠
p.Gln138Lys Single submitter OPTN-related open angle glaucoma ⚠
p.Gln305Arg Single submitter Inborn genetic diseases ⚠
p.Gln331His Single submitter Inborn genetic diseases
p.Gln390Arg Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Gln398Glu Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Gln42Pro Single submitter Glaucoma 1, open angle, E ⚠
p.Gln443Lys Single submitter Inborn genetic diseases ⚠
p.Gln467Arg Single submitter Inborn genetic diseases ⚠
p.Gln491Glu Single submitter Inborn genetic diseases ⚠
p.Gln546Ter Single submitter amyotrophic lateral sclerosis type 12
p.Gln569Arg Single submitter Inborn genetic diseases ⚠
p.Gln569His Single submitter OPTN-related open angle glaucoma ⚠
p.Gln569Ter Single submitter OPTN-related open angle glaucoma
p.Gln79Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Gln84His Single submitter Glaucoma 1, open angle, E ⚠
p.Glu103Asp Single submitter Glaucoma 1, open angle, E
p.Glu163Asp Single submitter OPTN-related open angle glaucoma ⚠
p.Glu187Ala Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Glu227Lys Single submitter OPTN-related open angle glaucoma ⚠
p.Glu283Gln Single submitter OPTN-related open angle glaucoma ⚠
p.Glu300Gln Single submitter Glaucoma 1, open angle, E ⚠
p.Glu300Lys Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Glu312Lys Single submitter Glaucoma 1, open angle, E ⚠
p.Glu446Gly Single submitter motor neuron disorder ⚠
p.Glu483Gln Single submitter Glaucoma 1, open angle, E ⚠
p.Glu487Lys Single submitter Inborn genetic diseases ⚠
p.Glu490Lys Single submitter OPTN-related open angle glaucoma ⚠
p.Glu516Gln Single submitter OPTN-related open angle glaucoma ⚠
p.Glu540Gln Single submitter OPTN-related open angle glaucoma ⚠
p.Glu540Lys Single submitter ⚠
p.Gly159Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Gly172Ser Single submitter Inborn genetic diseases ⚠
p.Gly190Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Gly200Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Gly208Asp Single submitter ⚠
p.Gly280Ala Single submitter Inborn genetic diseases ⚠
p.Gly509Arg Single submitter ⚠
p.Gly538Glu Single submitter OPTN-related open angle glaucoma ⚠
p.His197Gln Single submitter OPTN-related open angle glaucoma ⚠
p.His228Pro Single submitter OPTN-related open angle glaucoma ⚠
p.His317Asp Single submitter OPTN-related open angle glaucoma ⚠
p.His317Gln Single submitter Glaucoma 1, open angle, E
p.His400Tyr Single submitter OPTN-related open angle glaucoma
p.His476Arg Single submitter OPTN-related open angle glaucoma
p.His486Tyr Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.His521Arg Single submitter Glaucoma 1, open angle, E ⚠
p.His571Gln Single submitter amyotrophic lateral sclerosis ⚠
p.Ile344Val Single submitter Inborn genetic diseases ⚠
p.Ile463Thr Single submitter ⚠
p.Ile577Thr Single submitter Inborn genetic diseases ⚠
p.Leu238Arg Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Leu250Pro Single submitter OPTN-related disorder ⚠
p.Leu313Phe Single submitter Inborn genetic diseases ⚠
p.Leu32Arg Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Leu330His Single submitter Inborn genetic diseases ⚠
p.Leu337Pro Single submitter OPTN-related open angle glaucoma ⚠
p.Leu363Pro Single submitter OPTN-related open angle glaucoma ⚠
p.Leu404= Single submitter
p.Leu432Val Single submitter Inborn genetic diseases ⚠
p.Leu492Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Leu494Met Single submitter Inborn genetic diseases ⚠
p.Leu494Trp Single submitter OPTN-related open angle glaucoma ⚠
p.Leu568Phe Single submitter Glaucoma 1, open angle, E ⚠
p.Leu6Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Leu6Phe Single submitter OPTN-related open angle glaucoma ⚠
p.Lys267Glu Single submitter OPTN-related open angle glaucoma ⚠
p.Lys319Asn Single submitter Inborn genetic diseases ⚠
p.Lys378Glu Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Lys383= Single submitter OPTN-related open angle glaucoma
p.Lys385Arg Single submitter ⚠
p.Lys385Ile Single submitter ⚠
p.Lys440Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Lys448Glu Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Lys484Glu Single submitter Inborn genetic diseases
p.Lys557Arg Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Met1Lys Single submitter OPTN-related open angle glaucoma
p.Met447Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Met447Val Single submitter OPTN-related open angle glaucoma
p.Met461Thr Single submitter Inborn genetic diseases ⚠
p.Met468Val Single submitter Inborn genetic diseases ⚠
p.Met515Thr Single submitter Inborn genetic diseases
p.Met573Thr Single submitter amyotrophic lateral sclerosis type 12
p.Phe226Leu Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Pro125Ala Single submitter Inborn genetic diseases ⚠
p.Pro37Leu Single submitter OPTN-related open angle glaucoma ⚠
p.Pro556Ser Single submitter OPTN-related open angle glaucoma ⚠
p.Pro5Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Ser118Pro Single submitter OPTN-related open angle glaucoma ⚠
p.Ser129Pro Single submitter OPTN-related open angle glaucoma ⚠
p.Ser17Asn Single submitter OPTN-related open angle glaucoma ⚠
p.Ser206Ala Single submitter OPTN-related open angle glaucoma ⚠
p.Ser206Phe Single submitter Glaucoma 1, open angle, E ⚠
p.Ser212Tyr Single submitter Glaucoma 1, open angle, E ⚠
p.Ser234Asn Single submitter OPTN-related open angle glaucoma
p.Ser321Cys Single submitter OPTN-related open angle glaucoma ⚠
p.Ser415Ala Single submitter Glaucoma 1, open angle, E ⚠
p.Ser519Asn Single submitter OPTN-related open angle glaucoma ⚠
p.Thr126Ile Single submitter OPTN-related open angle glaucoma ⚠
p.Thr145Ala Single submitter OPTN-related open angle glaucoma ⚠
p.Thr202Lys Single submitter Inborn genetic diseases ⚠
p.Thr202Met Single submitter OPTN-related open angle glaucoma ⚠
p.Thr207Ala Single submitter OPTN-related open angle glaucoma ⚠
p.Thr232= Single submitter
p.Thr318Arg Single submitter OPTN-related open angle glaucoma ⚠
p.Thr318Ile Single submitter OPTN-related open angle glaucoma ⚠
p.Thr379Ile Single submitter
p.Thr392Ala Single submitter OPTN-related open angle glaucoma ⚠
p.Thr567Met Single submitter ⚠
p.Thr76Ala Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Trp544Ter Single submitter
p.Tyr533Asp Single submitter OPTN-related disorder ⚠
p.Val147Ala Single submitter Inborn genetic diseases ⚠
p.Val147Glu Single submitter amyotrophic lateral sclerosis type 12 ⚠
p.Val147Leu Single submitter Inborn genetic diseases ⚠
p.Val161Met Single submitter amyotrophic lateral sclerosis type 12
p.Val179Asp Single submitter OPTN-related open angle glaucoma ⚠
p.Val252Leu Single submitter Glaucoma 1, open angle, E ⚠
p.Val295Phe Single submitter frontotemporal dementia ⚠
p.Val418Ala Single submitter OPTN-related open angle glaucoma ⚠
p.Val418Leu Single submitter Inborn genetic diseases
p.Val422Leu Single submitter Inborn genetic diseases ⚠
p.Val498Leu Single submitter Inborn genetic diseases ⚠
p.Val535Leu Single submitter Glaucoma 1, open angle, E ⚠
p.Val561Ala Single submitter Inborn genetic diseases
c.553-4A>T No assertion criteria OPTN-related disorder
p.Arg144Gly No assertion criteria OPTN-related disorder ⚠
p.Asp141Glu No assertion criteria OPTN-related disorder ⚠
p.Val179Ala No assertion criteria OPTN-related disorder ⚠
p.Val418Gly No assertion criteria OPTN-related disorder ⚠