Total 14 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 SubmittersRCV000002538 RCV000002539 RCV000267056 RCV003398420
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	Criteria Provided Multiple Submitters No Conflicts	CA115555	rs_121912586	3 SubmittersRCV000002541 RCV000002540 RCV002254900
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	No Assertion Criteria Provided	CA252285	rs_121912590	1 SubmittersRCV000002545
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		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 SubmittersRCV000319726 RCV000903904 RCV004021541
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	Criteria Provided Conflicting Classifications	CA6510851	rs_200645253	2 SubmittersRCV000352193 RCV004021540
NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg)	SNV Germline	Chr12:39367157	Conflicting classifications of pathogenicity	Congenital fibrosis of extraocular muscles type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6511215	rs_149328427	3 SubmittersRCV000389659 RCV004708261 RCV004021542
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		rs_149718388	4 SubmittersRCV000894861 RCV001109764 RCV003950447 RCV004629373
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			2 SubmittersRCV002945826 RCV003455754
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			1 SubmittersRCV003604605