Total 5 pathogenic variants reported for CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_032228.6(FAR1):c.1439G>A (p.Arg480His)	SNV Germline	Chr11:13728665	Pathogenic/Likely pathogenic	Condition: not provided CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY	Criteria Provided Multiple Submitters No Conflicts	CA16042832	rs_1057517926	4 SubmittersRCV000413132 RCV001431536 RCV004786679
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys)	SNV Germline	Chr11:13728664	Pathogenic/Likely pathogenic	Condition: not provided CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY FAR1-related neurodevelopmental disorder CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY	Criteria Provided Multiple Submitters No Conflicts	CA16619294	rs_12799308	9 SubmittersRCV000484304 RCV001431538 RCV001796073 RCV002446947
NM_032228.6(FAR1):c.1439G>T (p.Arg480Leu)	SNV Germline	Chr11:13728665	Pathogenic	Condition: not provided CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY	Criteria Provided Multiple Submitters No Conflicts	CA379859374	rs_1057517926	3 SubmittersRCV000489959 RCV001431540 RCV003152710
NM_032228.6(FAR1):c.1438C>A (p.Arg480Ser)	SNV Germline	Chr11:13728664	Likely pathogenic	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY	Criteria Provided Single Submitter	CA379859372	rs_12799308	1 SubmittersRCV003329180
NM_032228.6(FAR1):c.1522C>T (p.Arg508Ter)	SNV Germline	Chr11:13728748	Likely pathogenic	Fatty acyl-CoA reductase 1 deficiency CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY	Criteria Provided Single Submitter			1 SubmittersRCV005399977