A total 55 pathogenic variants reported in gene cilia and flagella associated protein 410 (CFAP410)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004928.3(CFAP410):c.569G>T (p.Gly190Val) SNV
Germline		 Chr21:44330896 Conflicting classifications of pathogenicity Condition: not provided
CFAP410-related disorder		 Criteria Provided
Conflicting Classifications
 CA10053598 rs_752399030

3 SubmittersRCV000488032RCV004752914
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) SNV
Germline		 Chr21:44333188 Pathogenic/Likely pathogenic Axial spondylometaphyseal dysplasia
Cone dystrophy
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinal dystrophy with or without macular staphyloma
CFAP410-related disorder
Axial spondylometaphyseal dysplasia
Retinal dystrophy with or without macular staphyloma
Retinal disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10053758 rs_140451304

18 SubmittersRCV000492059RCV000504995RCV000504803RCV001075775RCV001091473RCV001376208RCV003409679RCV005355988RCV006454681
NM_004928.3(CFAP410):c.671T>C (p.Leu224Pro) SNV
Germline		 Chr21:44330298 Pathogenic Axial spondylometaphyseal dysplasia No Assertion Criteria Provided
 CA410448532 rs_1114167892

1 SubmittersRCV000492049
NM_004928.3(CFAP410):c.545+1G>A SNV
Germline		 Chr21:44331842 Pathogenic Axial spondylometaphyseal dysplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA10053635 rs_778222701

2 SubmittersRCV000492054RCV001851345
NM_004928.3(CFAP410):c.643-23A>T SNV
Germline		 Chr21:44330349 Pathogenic/Likely pathogenic Axial spondylometaphyseal dysplasia Criteria Provided
Multiple Submitters
No Conflicts
 CA645369795 rs_1131690800

3 SubmittersRCV000492061
NM_004928.3(CFAP410):c.319T>C (p.Tyr107His) SNV
Germline		 Chr21:44333087 Pathogenic Axial spondylometaphyseal dysplasia
Retinal dystrophy with or without macular staphyloma		 Criteria Provided
Single Submitter
 CA10053728 rs_763623409

3 SubmittersRCV000492051RCV003227769
NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu) SNV
Germline		 Chr21:44333059 Pathogenic/Likely pathogenic Axial spondylometaphyseal dysplasia
Condition: not provided
Retinal dystrophy with or without macular staphyloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10053716 rs_922930539

5 SubmittersRCV000492055RCV001313300RCV003227770
NM_004928.3(CFAP410):c.331G>A (p.Val111Met) SNV
Germline		 Chr21:44333075 Pathogenic Axial spondylometaphyseal dysplasia
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10053724 rs_555164150

3 SubmittersRCV000492060RCV001073670RCV001246843
NM_004928.3(CFAP410):c.320A>G (p.Tyr107Cys) SNV
Germline		 Chr21:44333086 Pathogenic Retinal dystrophy with or without macular staphyloma No Assertion Criteria Provided
 CA410456369 rs_1131690801

1 SubmittersRCV000492052
NM_004928.3(CFAP410):c.355C>T (p.Gln119Ter) SNV
Germline		 Chr21:44333051 Pathogenic Condition: not provided
Retinal dystrophy with or without macular staphyloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA410456210 rs_1457263136

3 SubmittersRCV000578912RCV003483679
NM_004928.3(CFAP410):c.763G>A (p.Ala255Thr) SNV
Germline		 Chr21:44330206 Conflicting classifications of pathogenicity Condition: not provided
CFAP410-related disorder		 Criteria Provided
Conflicting Classifications
 CA10053464 rs_141195315

3 SubmittersRCV000658926RCV003918101
NM_004928.3(CFAP410):c.96+6T>A SNV
Germline		 Chr21:44337643 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA10053873 rs_758835278

5 SubmittersRCV000997838RCV001075158
NM_004928.3(CFAP410):c.643-1G>C SNV
Germline		 Chr21:44330327 Pathogenic Retinitis pigmentosa
Axial spondylometaphyseal dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA410448626 rs_1602071514

3 SubmittersRCV001002897RCV002236069
NM_004928.3(CFAP410):c.643-2A>G SNV
Germline		 Chr21:44330328 Pathogenic Leber congenital amaurosis No Assertion Criteria Provided
 CA410448631 rs_1602071524

1 SubmittersRCV001002898
NM_004928.3(CFAP410):c.137C>T (p.Thr46Met) SNV
Germline		 Chr21:44335764 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10053831 rs_763821454

2 SubmittersRCV001075769RCV001340747
NM_004928.3(CFAP410):c.96+1G>T SNV
Germline		 Chr21:44337648 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10053875 rs_752137434

2 SubmittersRCV001074149RCV001862540
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) SNV
Germline		 Chr21:44333120 Pathogenic/Likely pathogenic Condition: not provided
See cases
Retinal dystrophy with or without macular staphyloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA410456670 rs_774614339

4 SubmittersRCV001091472RCV001420278RCV003483780
NM_004928.3(CFAP410):c.96+1G>A SNV
Germline		 Chr21:44337648 Pathogenic Condition: not provided
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA410459885 rs_752137434

3 SubmittersRCV001972699RCV003483869RCV004816829
NM_004928.3(CFAP410):c.46G>T (p.Glu16Ter) SNV
Germline		 Chr21:44339149 Pathogenic Condition: not provided
Axial spondylometaphyseal dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA410461194 rs_762237699

2 SubmittersRCV001925693RCV005860272
NM_004928.3(CFAP410):c.545+1G>C SNV
Germline		 Chr21:44331842 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA410453274 rs_778222701

1 SubmittersRCV002017080
NM_004928.3(CFAP410):c.642+2T>C SNV
Germline		 Chr21:44330821 Pathogenic Axial spondylometaphyseal dysplasia Criteria Provided
Multiple Submitters
No Conflicts
 CA410452225 rs_2146057228

2 SubmittersRCV002238696
NM_004928.3(CFAP410):c.143+3A>T SNV
Germline		 Chr21:44335755 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy with or without macular staphyloma		 Criteria Provided
Conflicting Classifications
 CA321785931 rs_970527998

3 SubmittersRCV002659290RCV003225997
NM_004928.3(CFAP410):c.73T>C (p.Cys25Arg) SNV
Germline		 Chr21:44339122 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy with or without macular staphyloma		 Criteria Provided
Conflicting Classifications
 CA410460987 rs_1478299726

2 SubmittersRCV002761208RCV003483895
NM_004928.3(CFAP410):c.373+91A>G SNV
Germline		 Chr21:44332942 Likely pathogenic Retinal dystrophy with or without macular staphyloma Criteria Provided
Single Submitter
 CA2577621246 rs_2518051350

1 SubmittersRCV003492882
NM_004928.3(CFAP410):c.77+2T>C SNV
Germline		 Chr21:44339116 Likely pathogenic Axial spondylometaphyseal dysplasia Criteria Provided
Single Submitter
 CA410460928 rs_1602093658

1 SubmittersRCV003989239
NM_004928.3(CFAP410):c.191T>A (p.Leu64Gln) SNV
Germline		 Chr21:44333215 Likely pathogenic Retinal dystrophy No Assertion Criteria Provided

1 SubmittersRCV004814175
NM_004928.3(CFAP410):c.78-1G>T SNV
Germline		 Chr21:44337668 Likely pathogenic Retinal dystrophy with or without macular staphyloma Criteria Provided
Single Submitter
 rs_1568992782

1 SubmittersRCV004584577
NM_004928.3(CFAP410):c.77G>A (p.Trp26Ter) SNV
Germline		 Chr21:44339118 Pathogenic Cone-rod dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005419835
NM_004928.3(CFAP410):c.97-1G>A SNV
Germline		 Chr21:44335805 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005134931
NM_004928.3(CFAP410):c.278G>A (p.Trp93Ter) SNV
Germline		 Chr21:44333128 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006481001