Total 18 pathogenic variants reported for Congenital fibrosis of extraocular muscles type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) SNV
Germline		 Chr12:39332405 Pathogenic Congenital fibrosis of extraocular muscles type 1
Fibrosis of extraocular muscles, congenital, 3b
Condition: not provided
KIF21A-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115554 rs_121912585

14 SubmittersRCV000002538RCV000002539RCV000267056RCV003398420
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) SNV
Germline		 Chr12:39332404 Pathogenic Fibrosis of extraocular muscles, congenital, 3b
Congenital fibrosis of extraocular muscles type 1
Condition: not provided
Abnormality of eye movement		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115555 rs_121912586

4 SubmittersRCV000002541RCV000002540RCV002254900RCV005234777
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr) SNV
Germline		 Chr12:39332236 Pathogenic Congenital fibrosis of extraocular muscles type 1 No Assertion Criteria Provided
 CA252283 rs_121912587

1 SubmittersRCV000002542
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr) SNV
Germline		 Chr12:39358326 Pathogenic Congenital fibrosis of extraocular muscles type 1 No Assertion Criteria Provided
 CA339982 rs_121912588

1 SubmittersRCV000002543
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) SNV
Germline		 Chr12:39332608 Pathogenic Congenital fibrosis of extraocular muscles type 1 No Assertion Criteria Provided
 CA252284 rs_121912589

1 SubmittersRCV000002544
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg) SNV
Germline		 Chr12:39332607 Pathogenic Congenital fibrosis of extraocular muscles type 1
Inborn genetic diseases		 Criteria Provided
Single Submitter
 CA252285 rs_121912590

2 SubmittersRCV000002545RCV005357059
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter) SNV
Germline		 Chr12:39367059 Likely pathogenic Congenital fibrosis of extraocular muscles type 1 Criteria Provided
Single Submitter
 CA235284984 rs_267603451

1 SubmittersRCV003311584
NM_001173464.2(KIF21A):c.1160A>G (p.Asn387Ser) SNV
Germline		 Chr12:39358233 Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6511100 rs_745692702

3 SubmittersRCV000319726RCV000903904RCV004021541
NM_001173464.2(KIF21A):c.2305A>G (p.Thr769Ala) SNV
Germline		 Chr12:39340170 Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1
Inborn genetic diseases
Congenital fibrosis of extraocular muscles		 Criteria Provided
Conflicting Classifications
 CA6510851 rs_200645253

3 SubmittersRCV000352193RCV004021540RCV005355633
NM_001173464.2(KIF21A):c.2492C>T (p.Thr831Met) SNV
Germline		 Chr12:39333103 Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6510771 rs_764601859

2 SubmittersRCV000281670RCV005365241
NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg) SNV
Germline		 Chr12:39367157 Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6511215 rs_149328427

3 SubmittersRCV000389659RCV004021542RCV004708261
NM_001173464.2(KIF21A):c.4388G>A (p.Gly1463Asp) SNV
Germline		 Chr12:39307619 Conflicting classifications of pathogenicity Condition: not provided
Congenital fibrosis of extraocular muscles type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6510185 rs_748963082

3 SubmittersRCV000894967RCV005392517RCV004619451
NM_001173464.2(KIF21A):c.2684C>T (p.Pro895Leu) SNV
Germline		 Chr12:39332911 Conflicting classifications of pathogenicity Condition: not provided
Congenital fibrosis of extraocular muscles type 1
KIF21A-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6510734 rs_149718388

4 SubmittersRCV000894861RCV001109764RCV003950447RCV004629373
NM_001173464.2(KIF21A):c.568G>A (p.Val190Ile) SNV
Germline		 Chr12:39367915 Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6511237 rs_141530856

2 SubmittersRCV001110639RCV005348321
NM_001173464.2(KIF21A):c.3301C>A (p.Leu1101Ile) SNV
Germline		 Chr12:39330764 Conflicting classifications of pathogenicity Inborn genetic diseases
Congenital fibrosis of extraocular muscles type 1		 Criteria Provided
Conflicting Classifications
 CA6510576 rs_377193734

2 SubmittersRCV002945826RCV003455754
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser) SNV
Germline		 Chr12:39333080 Likely pathogenic Congenital fibrosis of extraocular muscles type 1 Criteria Provided
Single Submitter
 CA384395372 rs_2500143880

1 SubmittersRCV003604605
NM_001173464.2(KIF21A):c.2861G>T (p.Arg954Leu) SNV
Germline		 Chr12:39332404 Likely pathogenic Congenital fibrosis of extraocular muscles type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005252445