Total 87 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
rs_1467976097

3 SubmittersRCV000018652RCV001851919

NM_001379500.1(COL18A1):c.3013+3A>C SNV
Germline
Chr21:45505281 Pathogenic Knobloch syndrome No Assertion Criteria Provided
rs_770631950

1 SubmittersRCV000018656

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

3 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
Criteria Provided
Conflicting Classifications
CA10065852 rs_149772252

3 SubmittersRCV000359642RCV001513049RCV004549781

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 Knobloch syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10067545 rs_761528498

2 SubmittersRCV000387981RCV002523186

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

2 SubmittersRCV000260062RCV001861184

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

3 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.1687G>A (p.Ala563Thr) SNV
Germline
Chr21:45482807 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Inborn genetic diseases
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
CA10066510 rs_201476017

5 SubmittersRCV000340898RCV001349865RCV002523183RCV004549789

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
Criteria Provided
Conflicting Classifications
CA10066530 rs_559725056

3 SubmittersRCV000407209RCV001460838RCV004549790

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 Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10066732 rs_754862849

2 SubmittersRCV000395837RCV002057768

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
Knobloch syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA410497580 rs_1555870809

3 SubmittersRCV000504887RCV001805122RCV002524405

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

9 SubmittersRCV000517619RCV000764262RCV000766954RCV002527466RCV004553126

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 Conflicting classifications of pathogenicity Knobloch syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
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
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
rs_199523495

3 SubmittersRCV000949107RCV001141916

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

2 SubmittersRCV001139085RCV001490069

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
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
Inborn genetic diseases
COL18A1-related disorder
Criteria Provided
Conflicting Classifications
rs_2236453

4 SubmittersRCV001141700RCV001520163RCV003293899RCV004548021

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

2 SubmittersRCV001139193RCV002070646

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
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
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
rs_201380467

2 SubmittersRCV001143618RCV002070728

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

2 SubmittersRCV001137046RCV001521427

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
rs_556113991

2 SubmittersRCV001139405RCV002070656

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

4 SubmittersRCV001142029RCV001516386RCV001700978

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

2 SubmittersRCV001143837RCV001521557

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

2 SubmittersRCV001143839RCV002070733

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
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
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
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
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
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
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
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
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
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
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
rs_200484625

5 SubmittersRCV001333463RCV001452439RCV004546636RCV004548178

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

1 SubmittersRCV001420592

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
rs_767090801

2 SubmittersRCV002004102RCV002290834

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

2 SubmittersRCV002614018RCV003403873

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

2 SubmittersRCV003142507RCV003778699

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

1 SubmittersRCV003764498

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

1 SubmittersRCV003883229