Total 97 pathogenic variants reported for Knobloch syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001379500.1(COL18A1):c.12-2A>T SNV
Germline
Chr21:45405377 Pathogenic Knobloch syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA410620250 rs_1467976097

3 SubmittersRCV000018652RCV001851919

NM_001379500.1(COL18A1):c.3013+3A>C SNV
Germline
Chr21:45505281 Likely pathogenic Knobloch syndrome
Knobloch syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2573054950 rs_770631950

3 SubmittersRCV000018656RCV004782018

NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) SNV
Germline
Chr21:45504431 Pathogenic/Likely pathogenic Condition: not provided
Knobloch syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA236429 rs_753824908

5 SubmittersRCV000171509RCV004796065

NM_001379500.1(COL18A1):c.1453-6G>A SNV
Germline
Chr21:45480694 Conflicting classifications of pathogenicity Knobloch syndrome
not specified
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10066351 rs_200886865

4 SubmittersRCV000333487RCV000602020RCV001491062RCV004549788

NM_001379500.1(COL18A1):c.2031+9C>T SNV
Germline
Chr21:45490355 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066742 rs_780751282

2 SubmittersRCV000310994RCV002523185

NM_001379500.1(COL18A1):c.2085C>T (p.Asp695=) SNV
Germline
Chr21:45491242 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10644808 rs_373006940

2 SubmittersRCV000364411RCV002057770

NM_001379500.1(COL18A1):c.2148G>A (p.Ser716=) SNV
Germline
Chr21:45491305 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066829 rs_374522196

2 SubmittersRCV000329523RCV001865238

NM_001379500.1(COL18A1):c.2380-15C>T SNV
Germline
Chr21:45494847 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10067058 rs_754575228

2 SubmittersRCV000282179RCV002057772

NM_001379500.1(COL18A1):c.2577+9C>T SNV
Germline
Chr21:45496577 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10067186 rs_774784084

2 SubmittersRCV000352501RCV002057773

NM_001379500.1(COL18A1):c.2683+11C>G SNV
Germline
Chr21:45497672 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10644820 rs_886057128

2 SubmittersRCV000301670RCV003765967

NM_001379500.1(COL18A1):c.1044G>A (p.Pro348=) SNV
Germline
Chr21:45477788 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10650623 rs_886057122

2 SubmittersRCV000291371RCV002057764

NM_001379500.1(COL18A1):c.1659G>A (p.Gly553=) SNV
Germline
Chr21:45482010 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066438 rs_768751253

2 SubmittersRCV000384724RCV002057766

NM_001379500.1(COL18A1):c.2187+7G>C SNV
Germline
Chr21:45492571 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10066879 rs_369701764

3 SubmittersRCV000266078RCV002057771RCV004549792

NM_001379500.1(COL18A1):c.2478G>A (p.Pro826=) SNV
Germline
Chr21:45495402 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10067115 rs_369390092

3 SubmittersRCV000314085RCV001517072RCV004549793

NM_001379500.1(COL18A1):c.2578-12C>T SNV
Germline
Chr21:45497038 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10067210 rs_201057172

2 SubmittersRCV000390753RCV002057774

NM_001379500.1(COL18A1):c.691G>A (p.Val231Met) SNV
Germline
Chr21:45473934 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10065850 rs_202012055

4 SubmittersRCV000309460RCV001398377RCV004549780

NM_001379500.1(COL18A1):c.693G>A (p.Val231=) SNV
Germline
Chr21:45473936 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10065852 rs_149772252

5 SubmittersRCV000359642RCV001513049RCV004549781RCV005540064

NM_001379500.1(COL18A1):c.801C>T (p.Gly267=) SNV
Germline
Chr21:45476353 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10065936 rs_145912433

3 SubmittersRCV000375708RCV002057762

NM_001379500.1(COL18A1):c.1059G>A (p.Arg353=) SNV
Germline
Chr21:45477803 Conflicting classifications of pathogenicity Knobloch syndrome
COL18A1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10653042 rs_886057123

3 SubmittersRCV000346318RCV004549786RCV002057765

NM_001379500.1(COL18A1):c.1760C>T (p.Ala587Val) SNV
Germline
Chr21:45486919 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10066533 rs_199823547

3 SubmittersRCV000287059RCV001351474RCV002523184

NM_001379500.1(COL18A1):c.2047A>C (p.Arg683=) SNV
Germline
Chr21:45490851 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10653046 rs_886057127

2 SubmittersRCV000326015RCV002057769

NM_001379500.1(COL18A1):c.2434-8C>T SNV
Germline
Chr21:45495350 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10067101 rs_367814420

2 SubmittersRCV000403656RCV002520038

NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser) SNV
Germline
Chr21:45504503 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10067482 rs_753363173

2 SubmittersRCV000375403RCV001861181

NM_001379500.1(COL18A1):c.2899C>T (p.Pro967Ser) SNV
Germline
Chr21:45505164 Conflicting classifications of pathogenicity Inborn genetic diseases
Knobloch syndrome
Criteria Provided
Conflicting Classifications
CA10067545 rs_761528498

2 SubmittersRCV002523186RCV000387981

NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile) SNV
Germline
Chr21:45510250 Conflicting classifications of pathogenicity Knobloch syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10068005 rs_750065884

3 SubmittersRCV000260062RCV005238928RCV001861184

NM_001379500.1(COL18A1):c.714C>T (p.Asp238=) SNV
Germline
Chr21:45473957 Conflicting classifications of pathogenicity Knobloch syndrome
COL18A1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10065854 rs_369721525

4 SubmittersRCV000264942RCV004549782RCV002057760

NM_001379500.1(COL18A1):c.996C>T (p.Arg332=) SNV
Germline
Chr21:45477478 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10066043 rs_530808102

3 SubmittersRCV000345057RCV002057763RCV004549785

NM_001379500.1(COL18A1):c.1707C>T (p.Ser569=) SNV
Germline
Chr21:45486866 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA10066530 rs_559725056

4 SubmittersRCV000407209RCV001460838RCV004549790RCV004800390

NM_001379500.1(COL18A1):c.1938G>T (p.Val646=) SNV
Germline
Chr21:45489500 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10653679 rs_886057125

2 SubmittersRCV000405829RCV002057767

NM_001379500.1(COL18A1):c.1986C>T (p.Pro662=) SNV
Germline
Chr21:45490301 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome
Criteria Provided
Conflicting Classifications
CA10066732 rs_754862849

2 SubmittersRCV002057768RCV000395837

NM_001379500.1(COL18A1):c.1613G>T (p.Gly538Val) SNV
Germline
Chr21:45481964 Likely pathogenic Knobloch syndrome Criteria Provided
Single Submitter
CA410518558 rs_1114167359

1 SubmittersRCV000490890

NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter) SNV
Germline
Chr21:45494560 Pathogenic Retinal dystrophy
Condition: not provided
Knobloch syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA410497580 rs_1555870809

3 SubmittersRCV000504887RCV002524405RCV001805122

NM_001379500.1(COL18A1):c.107-12197G>A SNV
Germline
Chr21:45456045 Conflicting classifications of pathogenicity not specified
COL18A1-related disorder
Knobloch syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10065497 rs_200284308

9 SubmittersRCV000517619RCV004553126RCV000764262RCV000766954RCV002527466

NM_001379500.1(COL18A1):c.2158-9C>T SNV
Germline
Chr21:45492526 Conflicting classifications of pathogenicity not specified
Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066861 rs_200143450

3 SubmittersRCV000517538RCV001137170RCV001438548

NM_001379500.1(COL18A1):c.3809+2T>C SNV
Germline
Chr21:45511228 Pathogenic Knobloch syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10068077 rs_113847452

2 SubmittersRCV000761287RCV001869040

NM_001379500.1(COL18A1):c.3241C>T (p.Arg1081Ter) SNV
Germline
Chr21:45507585 Pathogenic/Likely pathogenic Knobloch syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10067799 rs_771752014

2 SubmittersRCV000825517RCV001869266

NM_001379500.1(COL18A1):c.1905C>T (p.Pro635=) SNV
Germline
Chr21:45488426 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome
Criteria Provided
Conflicting Classifications
CA10066651 rs_199523495

3 SubmittersRCV000949107RCV001141916

NC_000021.9:g.45405398C>T SNV
Germline
Chr21:45405398 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Knobloch syndrome 1
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10065181 rs_754075778

5 SubmittersRCV001139084RCV001856784RCV004726898RCV004740586

NC_000021.9:g.45405463C>T SNV
Germline
Chr21:45405463 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10065185 rs_772492972

3 SubmittersRCV001139085RCV001490069RCV004740587

NM_001379500.1(COL18A1):c.291C>T (p.His97=) SNV
Germline
Chr21:45468426 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA512708398 rs_1272002645

2 SubmittersRCV001141698RCV003679042

NM_001379500.1(COL18A1):c.578G>A (p.Arg193Gln) SNV
Germline
Chr21:45468713 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
not specified
COL18A1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10065787 rs_2236453

5 SubmittersRCV001141700RCV001520163RCV005438057RCV004548021RCV003293899

NM_001379500.1(COL18A1):c.855G>A (p.Leu285=) SNV
Germline
Chr21:45476407 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10065968 rs_754187386

3 SubmittersRCV001139193RCV002070646RCV004740588

NM_001379500.1(COL18A1):c.873G>A (p.Thr291=) SNV
Germline
Chr21:45476425 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10065973 rs_183924183

2 SubmittersRCV001139194RCV002070647

NM_001379500.1(COL18A1):c.1008C>T (p.Gly336=) SNV
Germline
Chr21:45477752 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10066060 rs_372133935

3 SubmittersRCV001139196RCV002070648RCV004548015

NM_001379500.1(COL18A1):c.1323G>A (p.Gly441=) SNV
Germline
Chr21:45480081 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066261 rs_201380467

2 SubmittersRCV001143618RCV002070728

NM_001379500.1(COL18A1):c.1542C>T (p.Asp514=) SNV
Germline
Chr21:45480789 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome
Criteria Provided
Conflicting Classifications
CA10066383 rs_200106008

2 SubmittersRCV001521427RCV001137046

NM_001379500.1(COL18A1):c.2178G>A (p.Pro726=) SNV
Germline
Chr21:45492555 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066874 rs_556113991

2 SubmittersRCV001139405RCV002070656

NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=) SNV
Germline
Chr21:45494870 Conflicting classifications of pathogenicity Knobloch syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10067064 rs_139122081

5 SubmittersRCV001142029RCV001700978RCV001516386

NM_001379500.1(COL18A1):c.2490C>T (p.Ser830=) SNV
Germline
Chr21:45495414 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome
Criteria Provided
Conflicting Classifications
CA10067116 rs_377601838

2 SubmittersRCV001521557RCV001143837

NM_001379500.1(COL18A1):c.2568C>T (p.Tyr856=) SNV
Germline
Chr21:45496559 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome
Criteria Provided
Conflicting Classifications
CA10067181 rs_376919554

2 SubmittersRCV002070733RCV001143839

NM_001379500.1(COL18A1):c.2601C>T (p.Pro867=) SNV
Germline
Chr21:45497073 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10067221 rs_374530279

2 SubmittersRCV001143840RCV002070734

NM_001379500.1(COL18A1):c.2781C>G (p.Pro927=) SNV
Germline
Chr21:45504469 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10067463 rs_11544970

2 SubmittersRCV001137274RCV003688914

NM_001379500.1(COL18A1):c.1674+15G>A SNV
Germline
Chr21:45482040 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066443 rs_201043325

2 SubmittersRCV001139293RCV002070653

NM_001379500.1(COL18A1):c.1702-4G>A SNV
Germline
Chr21:45486857 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA321918459 rs_376187378

2 SubmittersRCV001139296RCV001504312

NM_001379500.1(COL18A1):c.1834-15G>A SNV
Germline
Chr21:45487432 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066569 rs_191917454

2 SubmittersRCV001141914RCV002070701

NM_001379500.1(COL18A1):c.2068-7C>T SNV
Germline
Chr21:45491218 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10066792 rs_369084150

3 SubmittersRCV001143720RCV001454663RCV004548028

NM_001379500.1(COL18A1):c.2157+13C>T SNV
Germline
Chr21:45491327 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066835 rs_772102800

2 SubmittersRCV001137168RCV002070601

NM_001379500.1(COL18A1):c.2214+15G>A SNV
Germline
Chr21:45492728 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA512686615 rs_368257475

2 SubmittersRCV001139406RCV002070657

NM_001379500.1(COL18A1):c.2434-4C>G SNV
Germline
Chr21:45495354 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA638164665 rs_1392844393

2 SubmittersRCV001142032RCV002070703

NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter) SNV
Unknown
Chr21:45487489 Likely pathogenic Knobloch syndrome Criteria Provided
Single Submitter
CA321918562 rs_753935209

1 SubmittersRCV001170051

NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) SNV
Germline
Chr21:45510107 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Knobloch syndrome 1
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10067949 rs_200484625

5 SubmittersRCV001333463RCV001452439RCV004546636RCV004548178

NM_001379500.1(COL18A1):c.1221G>A (p.Pro407=) SNV
Germline
Chr21:45477965 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome 1
Criteria Provided
Conflicting Classifications
CA10066106 rs_368902481

2 SubmittersRCV001350759RCV004727179

NM_001379500.1(COL18A1):c.107-11987C>A SNV
Germline
Chr21:45456255 Likely pathogenic Knobloch syndrome Criteria Provided
Single Submitter
CA10065556 rs_757523045

1 SubmittersRCV001420592

NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp) SNV
Germline
Chr21:45509422 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome 1
Hereditary glaucoma, primary closed-angle
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10067852 rs_377620137

4 SubmittersRCV001448753RCV002501574RCV004550188

NM_001379500.1(COL18A1):c.107-12513C>T SNV
Germline
Chr21:45455729 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome 1
Criteria Provided
Conflicting Classifications
CA10065408 rs_375087150

2 SubmittersRCV002043714RCV004729052

NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg) SNV
Germline
Chr21:45504416 Conflicting classifications of pathogenicity Condition: not provided
Knobloch syndrome 1
Criteria Provided
Conflicting Classifications
CA10067440 rs_767090801

2 SubmittersRCV002004102RCV002290834

NM_001379500.1(COL18A1):c.1459C>T (p.Arg487Ter) SNV
Germline
Chr21:45480706 Pathogenic Condition: not provided
Knobloch syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA10066354 rs_768055690

2 SubmittersRCV001922016RCV005409066

NM_002577.4(PAK2):c.1303G>A (p.Glu435Lys) SNV
Germline
Chr3:196820520 Pathogenic Knobloch syndrome No Assertion Criteria Provided
CA355643381 rs_2108773003

1 SubmittersRCV002267712

NM_001379500.1(COL18A1):c.2577+1G>A SNV
Germline
Chr21:45496569 Pathogenic/Likely pathogenic Condition: not provided
Knobloch syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA10067185 rs_541908170

2 SubmittersRCV002614018RCV003403873

NM_001379500.1(COL18A1):c.2032-1G>A SNV
Germline
Chr21:45490835 Likely pathogenic Condition: not provided
Knobloch syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA410496845 rs_2036311953

2 SubmittersRCV003778699RCV003142507

NM_001379500.1(COL18A1):c.798+1G>T SNV
Germline
Chr21:45475536 Likely pathogenic Condition: not provided
Hereditary glaucoma, primary closed-angle
Knobloch syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA10065901 rs_753984170

2 SubmittersRCV003678276RCV005392659

NM_002577.4(PAK2):c.1273G>A (p.Asp425Asn) SNV
Germline
Chr3:196820490 Likely pathogenic Knobloch syndrome 2 Criteria Provided
Single Submitter
CA355643282 rs_2474001104

1 SubmittersRCV003764498

NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter) SNV
Unknown
Chr21:45505427 Likely pathogenic Knobloch syndrome 1 Criteria Provided
Single Submitter
CA410499796 rs_2517795259

1 SubmittersRCV003883229

NM_002577.4(PAK2):c.836A>C (p.Gln279Pro) SNV
Germline
Chr3:196812752 Likely pathogenic Knobloch syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004765108