A total 156 pathogenic variants reported in gene cadherin related family member 1 (CDHR1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_033100.4(CDHR1):c.476C>A (p.Ala159Glu) SNV
Germline
Chr10:84200638 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA235798 rs_763399323

1 SubmittersRCV000171179

NM_033100.4(CDHR1):c.1536T>A (p.Tyr512Ter) SNV
Germline
Chr10:84211698 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA235800 rs_786205459

1 SubmittersRCV000171180

NM_033100.4(CDHR1):c.1A>G (p.Met1Val) SNV
Germline
Chr10:84194761 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 15
Retinitis pigmentosa
Retinal dystrophy
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA238994 rs_794726954

7 SubmittersRCV000173546RCV001589051RCV001723745RCV004816255RCV004748622

NM_033100.4(CDHR1):c.526-7C>G SNV
Germline
Chr10:84201800 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 15
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA247354 rs_190906755

6 SubmittersRCV000179989RCV000625428RCV003917677

NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) SNV
Germline
Chr10:84213176 Conflicting classifications of pathogenicity not specified
Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA5580079 rs_137876961

6 SubmittersRCV000238891RCV000380865RCV000512914RCV004816453

NM_033100.4(CDHR1):c.863-1G>A SNV
Germline
Chr10:84205826 Pathogenic/Likely pathogenic Condition: not provided
Cone-rod dystrophy 15
Criteria Provided
Multiple Submitters
No Conflicts
CA10603072 rs_886041900

3 SubmittersRCV000376892RCV001376330

NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) SNV
Germline
Chr10:84214217 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA5580161 rs_141706561

6 SubmittersRCV000279579RCV000415999RCV004816496

NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) SNV
Germline
Chr10:84214270 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 15
Criteria Provided
Conflicting Classifications
CA5580180 rs_150969538

4 SubmittersRCV000266540RCV000395283

NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu) SNV
Germline
Chr10:84204576 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA5579725 rs_543254581

3 SubmittersRCV000406664

NM_033100.4(CDHR1):c.526-14C>A SNV
Germline
Chr10:84201793 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579576 rs_745955360

2 SubmittersRCV000334640RCV002520640

NM_033100.4(CDHR1):c.964-10C>T SNV
Germline
Chr10:84208164 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10629267 rs_886047327

2 SubmittersRCV000267510RCV000895973

NM_033100.4(CDHR1):c.1050G>A (p.Pro350=) SNV
Germline
Chr10:84208260 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579822 rs_199721776

2 SubmittersRCV000377413RCV003765767

NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) SNV
Germline
Chr10:84208281 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5579830 rs_146588811

5 SubmittersRCV000625430RCV000415766RCV001699435

NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) SNV
Germline
Chr10:84208343 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 15
Inborn genetic diseases
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA5579845 rs_140621272

7 SubmittersRCV000415935RCV000660387RCV002522171RCV004748713

NM_033100.4(CDHR1):c.1320+11C>T SNV
Germline
Chr10:84208892 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10629276 rs_201940855

2 SubmittersRCV000352706RCV001452796

NM_033100.4(CDHR1):c.1470C>T (p.Ser490=) SNV
Germline
Chr10:84211150 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579945 rs_150577739

2 SubmittersRCV000299812RCV001522738

NM_033100.4(CDHR1):c.1854C>T (p.Asn618=) SNV
Germline
Chr10:84213162 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5580072 rs_373373894

2 SubmittersRCV000272010RCV001442806

NM_033100.4(CDHR1):c.2001C>T (p.Ser667=) SNV
Germline
Chr10:84213309 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5580108 rs_139302633

2 SubmittersRCV000386691RCV001393114

NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr) SNV
Germline
Chr10:84195556 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA5579410 rs_138182270

3 SubmittersRCV000401487RCV000980809RCV003910100

NM_033100.4(CDHR1):c.152-9T>C SNV
Germline
Chr10:84196496 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579444 rs_754726772

2 SubmittersRCV000275893RCV000919471

NM_033100.4(CDHR1):c.547G>A (p.Val183Met) SNV
Germline
Chr10:84201828 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579584 rs_142109115

2 SubmittersRCV000338304RCV001034419

NM_033100.4(CDHR1):c.1432G>A (p.Val478Ile) SNV
Germline
Chr10:84211112 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5579935 rs_756095042

3 SubmittersRCV000313127RCV001213146RCV002520641

NM_033100.4(CDHR1):c.700G>A (p.Val234Ile) SNV
Germline
Chr10:84203040 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579649 rs_148356887

5 SubmittersRCV000345248RCV001073729RCV001363674

NM_033100.4(CDHR1):c.869A>G (p.Asp290Gly) SNV
Germline
Chr10:84205833 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579764 rs_574920135

2 SubmittersRCV000316967RCV002056146

NM_033100.4(CDHR1):c.983C>T (p.Ala328Val) SNV
Germline
Chr10:84208193 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Inborn genetic diseases
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA5579805 rs_749657135

4 SubmittersRCV000322834RCV001850593RCV005801771RCV004748712

NM_033100.4(CDHR1):c.1206C>T (p.Pro402=) SNV
Germline
Chr10:84208767 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579880 rs_149181127

2 SubmittersRCV000288325RCV000891270

NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) SNV
Germline
Chr10:84211141 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 15
not specified
Criteria Provided
Conflicting Classifications
CA5579943 rs_141787212

5 SubmittersRCV000732115RCV000625431RCV001699349

NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) SNV
Germline
Chr10:84211151 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5579946 rs_138638103

4 SubmittersRCV000355168RCV000594016RCV003165819

NM_033100.4(CDHR1):c.1849G>A (p.Ala617Thr) SNV
Germline
Chr10:84213157 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5580070 rs_141250715

3 SubmittersRCV000366579RCV001220118

NM_033100.4(CDHR1):c.2367G>A (p.Pro789=) SNV
Germline
Chr10:84214408 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5580206 rs_150097621

3 SubmittersRCV000359128RCV000940535

NM_033100.4(CDHR1):c.640-14C>T SNV
Germline
Chr10:84202966 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579630 rs_376451005

2 SubmittersRCV000309133RCV002056145

NM_033100.4(CDHR1):c.783G>A (p.Pro261=) SNV
Germline
Chr10:84203123 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Retinal dystrophy
Condition: not provided
not specified
Retinitis pigmentosa
Macular dystrophy, retinal, 5
Retinitis pigmentosa 65
Optic atrophy
Colon adenocarcinoma
Colorectal cancer
Gastric cancer
Papillary renal cell carcinoma type 1
Melanoma
CDHR1-related disorder
Malignant tumor of urinary bladder
Familial cancer of breast
Hepatocellular carcinoma
Criteria Provided
Conflicting Classifications
CA5579673 rs_147346345

21 SubmittersRCV000625429RCV000787811RCV000487554RCV000825304RCV001723886RCV003221896RCV003221895RCV004816533RCV005891892RCV005891896RCV005891897RCV005891893RCV005891898RCV004748711RCV005891894RCV005891891RCV005891895

NM_033100.4(CDHR1):c.1344C>T (p.Thr448=) SNV
Germline
Chr10:84211024 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
not specified
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA5579916 rs_542195636

5 SubmittersRCV000397236RCV001511251RCV001700044RCV003910101

NM_033100.4(CDHR1):c.1464C>T (p.Gly488=) SNV
Germline
Chr10:84211144 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579944 rs_193142630

2 SubmittersRCV000400771RCV001481104

NM_033100.4(CDHR1):c.1553+6T>C SNV
Germline
Chr10:84211721 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA5579972 rs_199567321

5 SubmittersRCV000306123RCV000494444RCV004816534

NM_033100.4(CDHR1):c.1873C>G (p.His625Asp) SNV
Germline
Chr10:84213181 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
CDHR1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5580080 rs_149043166

4 SubmittersRCV000295691RCV000897364RCV003910102RCV005791842

NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly) SNV
Unknown
Chr10:84211128 Likely pathogenic Retinal dystrophy No Assertion Criteria Provided
CA377376890 rs_1554857529

1 SubmittersRCV000504869

NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter) SNV
Germline
Chr10:84211689 Pathogenic Retinitis pigmentosa
Condition: not provided
Criteria Provided
Single Submitter
CA377377258 rs_1477733493

2 SubmittersRCV000504623RCV001857214

NM_033100.4(CDHR1):c.1132C>T (p.Arg378Trp) SNV
Germline
Chr10:84208342 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579843 rs_146783539

2 SubmittersRCV000754589RCV002067009

NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile) SNV
Germline
Chr10:84203029 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA5579644 rs_141173656

5 SubmittersRCV000761736RCV004817975

NM_033100.4(CDHR1):c.1792G>A (p.Glu598Lys) SNV
Germline
Chr10:84213100 Conflicting classifications of pathogenicity Condition: not provided
CDHR1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5580060 rs_114754869

6 SubmittersRCV000904366RCV004749526RCV005532792

NM_033100.4(CDHR1):c.556C>T (p.His186Tyr) SNV
Germline
Chr10:84201837 Conflicting classifications of pathogenicity Condition: not provided
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA5579587 rs_147420731

5 SubmittersRCV000996127RCV003906134

NM_033100.4(CDHR1):c.1A>T (p.Met1Leu) SNV
Germline
Chr10:84194761 Pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA377369066 rs_794726954

1 SubmittersRCV001002928

NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp) SNV
Germline
Chr10:84211053 Conflicting classifications of pathogenicity Cone-rod dystrophy
Condition: not provided
Cone-rod dystrophy 15
Criteria Provided
Conflicting Classifications
CA5579924 rs_760942217

3 SubmittersRCV002267754RCV003769393RCV005253674

NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) SNV
Germline
Chr10:84211061 Pathogenic Condition: not provided
Cone-rod dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA377376746 rs_1589306127

4 SubmittersRCV001268819RCV002267755

NM_033100.4(CDHR1):c.1485+2T>G SNV
Germline
Chr10:84211167 Pathogenic Condition: not provided
Cone-rod dystrophy
Cone-rod dystrophy 15
Criteria Provided
Single Submitter
CA377377031 rs_767366723

3 SubmittersRCV001389461RCV002267756RCV003159169

NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met) SNV
Germline
Chr10:84212376 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5580034 rs_754321329

3 SubmittersRCV001034280RCV002552051

NM_033100.4(CDHR1):c.838C>T (p.Arg280Ter) SNV
Germline
Chr10:84204581 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA5579729 rs_191858417

1 SubmittersRCV001047268

NM_033100.4(CDHR1):c.525+1G>A SNV
Germline
Chr10:84200688 Pathogenic Condition: not provided
Cone-rod dystrophy 15
Criteria Provided
Multiple Submitters
No Conflicts
CA5579559 rs_373412516

2 SubmittersRCV001040273RCV005912449

NM_033100.4(CDHR1):c.1485+2T>C SNV
Germline
Chr10:84211167 Pathogenic Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA210386500 rs_767366723

2 SubmittersRCV001051276RCV001073372

NM_033100.4(CDHR1):c.55+1G>A SNV
Germline
Chr10:84194816 Likely pathogenic Retinal dystrophy
Condition: not provided
CDHR1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA210376402 rs_547198427

3 SubmittersRCV001073921RCV001377811RCV003393836

NM_033100.4(CDHR1):c.44G>T (p.Arg15Leu) SNV
Germline
Chr10:84194804 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA5579379 rs_74903725

3 SubmittersRCV001108871RCV001520346RCV003906206

NM_033100.4(CDHR1):c.938G>A (p.Arg313Lys) SNV
Germline
Chr10:84205902 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Inborn genetic diseases
CDHR1-related disorder
Criteria Provided
Conflicting Classifications
CA5579779 rs_144058677

4 SubmittersRCV001105753RCV001521334RCV002556080RCV003918685

NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser) SNV
Germline
Chr10:84208748 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA5579877 rs_145353541

4 SubmittersRCV001106870RCV001201528RCV004813771

NM_033100.4(CDHR1):c.1354T>G (p.Phe452Val) SNV
Germline
Chr10:84211034 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA5579918 rs_112631930

3 SubmittersRCV001106872RCV001396332RCV004813772

NM_033100.4(CDHR1):c.1848C>T (p.Pro616=) SNV
Germline
Chr10:84213156 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5580069 rs_147920893

2 SubmittersRCV001103923RCV001469956

NM_033100.4(CDHR1):c.784-4C>T SNV
Germline
Chr10:84204523 Conflicting classifications of pathogenicity Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5579704 rs_768106524

2 SubmittersRCV001103810RCV002069724

NM_033100.4(CDHR1):c.686C>T (p.Thr229Ile) SNV
Germline
Chr10:84203026 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5579643 rs_146547564

2 SubmittersRCV001219451RCV002562997

NM_033100.4(CDHR1):c.1453G>A (p.Ala485Thr) SNV
Germline
Chr10:84211133 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Optic atrophy
Criteria Provided
Conflicting Classifications
CA5579940 rs_532268197

3 SubmittersRCV001206100RCV002561215RCV004813859

NM_033100.4(CDHR1):c.562G>A (p.Gly188Ser) SNV
Germline
Chr10:84201843 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 15
Criteria Provided
Conflicting Classifications
CA5579591 rs_748412274

3 SubmittersRCV001234341RCV005367780

NM_033100.4(CDHR1):c.1168-1G>C SNV
Germline
Chr10:84208728 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377375278 rs_1395276529

1 SubmittersRCV001227878

NM_033100.4(CDHR1):c.2041-2A>C SNV
Germline
Chr10:84214080 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA5580134 rs_763740152

1 SubmittersRCV001371052

NM_033100.4(CDHR1):c.640-2A>T SNV
Germline
Chr10:84202978 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377372530 rs_2132807272

1 SubmittersRCV001377129

NM_033100.4(CDHR1):c.355G>T (p.Glu119Ter) SNV
Germline
Chr10:84199038 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377370952 rs_531420059

1 SubmittersRCV001380575

NM_033100.4(CDHR1):c.1000C>T (p.Gln334Ter) SNV
Germline
Chr10:84208210 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377374365 rs_1340364290

1 SubmittersRCV001383463

NM_033100.4(CDHR1):c.1855G>T (p.Val619Leu) SNV
Germline
Chr10:84213163 Conflicting classifications of pathogenicity Condition: not provided
CDHR1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5580073 rs_115388824

4 SubmittersRCV001409094RCV004749684RCV005533001

NM_033100.4(CDHR1):c.1328C>T (p.Ala443Val) SNV
Germline
Chr10:84211008 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5579912 rs_147726523

2 SubmittersRCV001425958RCV002555517

NM_033100.4(CDHR1):c.768C>G (p.Tyr256Ter) SNV
Germline
Chr10:84203108 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
CA377372792 rs_769081286

2 SubmittersRCV001543447

NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter) SNV
Germline
Chr10:84208780 Pathogenic Cone-rod dystrophy 15
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA210383496 rs_373978786

2 SubmittersRCV001591909RCV001882713

NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter) SNV
Germline
Chr10:84205892 Likely pathogenic Retinitis pigmentosa
Cone-rod dystrophy 15
Macular dystrophy, retinal, 5
Criteria Provided
Single Submitter
CA377373883 rs_1842216995

2 SubmittersRCV001724851RCV002227535RCV003222341

NM_033100.4(CDHR1):c.523C>T (p.Gln175Ter) SNV
Germline
Chr10:84200685 Pathogenic Condition: not provided No Assertion Criteria Provided
CA377371653 rs_1486109432

2 SubmittersRCV001723338

NM_033100.4(CDHR1):c.1744A>T (p.Lys582Ter) SNV
Germline
Chr10:84212369 Pathogenic/Likely pathogenic Condition: not provided
Cone-rod dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA5580032 rs_142980820

2 SubmittersRCV001868854RCV004017867

NM_033100.4(CDHR1):c.56-1G>A SNV
Germline
Chr10:84195493 Pathogenic/Likely pathogenic Condition: not provided
Cone-rod dystrophy 15
Criteria Provided
Multiple Submitters
No Conflicts
CA5579393 rs_751972593

2 SubmittersRCV002022338RCV005232754

NM_033100.4(CDHR1):c.525+1G>T SNV
Germline
Chr10:84200688 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA5579558 rs_373412516

1 SubmittersRCV001950859

NM_033100.4(CDHR1):c.1167+2T>C SNV
Germline
Chr10:84208379 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377375232 rs_2132820982

1 SubmittersRCV002005402

NM_033100.4(CDHR1):c.1675G>A (p.Val559Ile) SNV
Germline
Chr10:84212300 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5580016 rs_778340853

2 SubmittersRCV002027479RCV005535255

NM_033100.4(CDHR1):c.1511G>A (p.Trp504Ter) SNV
Germline
Chr10:84211673 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377377180 rs_74902839

1 SubmittersRCV002002349

NM_033100.4(CDHR1):c.526-1G>A SNV
Germline
Chr10:84201806 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377372158 rs_1842129715

1 SubmittersRCV002034913

NM_033100.4(CDHR1):c.1516G>T (p.Glu506Ter) SNV
Germline
Chr10:84211678 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377377204 rs_547812313

1 SubmittersRCV001864635

NM_033100.4(CDHR1):c.1783-2A>G SNV
Germline
Chr10:84213089 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377378237 rs_2132833489

1 SubmittersRCV001988301

NM_033100.4(CDHR1):c.1720C>G (p.Pro574Ala) SNV
Germline
Chr10:84212345 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Cone-rod dystrophy 15
Criteria Provided
Conflicting Classifications
CA377378102 rs_746501731

3 SubmittersRCV001972463RCV004816826RCV005361871

NM_033100.4(CDHR1):c.18G>A (p.Trp6Ter) SNV
Germline
Chr10:84194778 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377369104 rs_1220602138

1 SubmittersRCV001963280

NM_033100.4(CDHR1):c.2506G>A (p.Val836Ile) SNV
Germline
Chr10:84214547 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA377380217 rs_994272082

2 SubmittersRCV002033690RCV005792264

NM_033100.4(CDHR1):c.784-1G>C SNV
Germline
Chr10:84204526 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA5579707 rs_777305743

1 SubmittersRCV001977000

NM_033100.4(CDHR1):c.355G>A (p.Glu119Lys) SNV
Germline
Chr10:84199038 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5579526 rs_531420059

2 SubmittersRCV002071225RCV002552347

NM_033100.4(CDHR1):c.964-1G>C SNV
Germline
Chr10:84208173 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA5579804 rs_773704365

1 SubmittersRCV002613155

NM_033100.4(CDHR1):c.297+1G>A SNV
Germline
Chr10:84196651 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377370502 rs_1464226905

1 SubmittersRCV002597201

NM_033100.4(CDHR1):c.2038G>T (p.Glu680Ter) SNV
Germline
Chr10:84213346 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377378781 rs_2492544964

1 SubmittersRCV002828937

NM_033100.4(CDHR1):c.2455A>G (p.Thr819Ala) SNV
Germline
Chr10:84214496 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5580239 rs_747960015

2 SubmittersRCV002933047RCV002933046

NM_033100.4(CDHR1):c.1632C>A (p.Tyr544Ter) SNV
Germline
Chr10:84212257 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377377908 rs_1480934668

1 SubmittersRCV002971468

NM_033100.4(CDHR1):c.439-1G>A SNV
Germline
Chr10:84200600 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA210379546 rs_916319156

1 SubmittersRCV003054108

NM_033100.4(CDHR1):c.1168-1G>A SNV
Germline
Chr10:84208728 Pathogenic Retinitis pigmentosa 65 No Assertion Criteria Provided
CA377375282 rs_1395276529

1 SubmittersRCV003159257

NM_033100.4(CDHR1):c.2040+5G>T SNV
Germline
Chr10:84213353 Pathogenic Macular dystrophy, retinal, 5 No Assertion Criteria Provided
CA594886783 rs_1446751435

1 SubmittersRCV003159259

NM_033100.4(CDHR1):c.862+1G>T SNV
Germline
Chr10:84204606 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377373546 rs_2492505338

1 SubmittersRCV003569269

NM_033100.4(CDHR1):c.17G>A (p.Trp6Ter) SNV
Germline
Chr10:84194777 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377369100 rs_1461691786

1 SubmittersRCV003668016

NM_033100.4(CDHR1):c.2041-1G>C SNV
Germline
Chr10:84214081 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377378941 rs_2492548014

1 SubmittersRCV003704687

NM_033100.4(CDHR1):c.438+1G>A SNV
Germline
Chr10:84199122 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377371131 rs_2492479034

1 SubmittersRCV003727115

NM_033100.4(CDHR1):c.1729G>T (p.Gly577Ter) SNV
Germline
Chr10:84212354 Likely pathogenic Cone-rod dystrophy 15 No Assertion Criteria Provided

1 SubmittersRCV004691597

NM_033100.4(CDHR1):c.1782+1G>A SNV
Germline
Chr10:84212408 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA377378230 rs_2492539884

1 SubmittersRCV003819216

NM_033100.4(CDHR1):c.863-2A>G SNV
Germline
Chr10:84205825 Pathogenic Retinal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV004818700

NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter) SNV
Unknown
Chr10:84204592 Pathogenic Cone-rod dystrophy 12 Criteria Provided
Single Submitter

1 SubmittersRCV004759477

NM_033100.4(CDHR1):c.1486G>C (p.Ala496Pro) SNV
Germline
Chr10:84211648 Likely pathogenic Retinitis pigmentosa Criteria Provided
Single Submitter

1 SubmittersRCV005419812

NM_033100.4(CDHR1):c.152-2A>G SNV
Germline
Chr10:84196503 Likely pathogenic Cone-rod dystrophy 15 Criteria Provided
Single Submitter

1 SubmittersRCV005051215

NM_033100.4(CDHR1):c.1168-2A>G SNV
Germline
Chr10:84208727 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005118068

NM_033100.4(CDHR1):c.297+1G>T SNV
Germline
Chr10:84196651 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006482475

NM_033100.4(CDHR1):c.1554-2A>C SNV
Germline
Chr10:84212177 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006505002

NM_033100.4(CDHR1):c.1066G>T (p.Glu356Ter) SNV
Germline
Chr10:84208276 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006520114

NM_033100.4(CDHR1):c.1321-1G>A SNV
Germline
Chr10:84211000 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006581561

NM_033100.4(CDHR1):c.526-1G>C SNV
Germline
Chr10:84201806 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006576541