Total 9 pathogenic variants reported for Williams syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000501.4(ELN):c.647G>T (p.Gly216Val)	SNV Germline	Chr7:74047678	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Condition: not provided Williams syndrome Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications	CA324493	rs_145612009	7 SubmittersRCV000531891 RCV000728083 RCV000765972 RCV001161674
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	SNV Germline	Chr7:74063360	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Williams syndrome ELN-related disorder Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4293282	rs_536177240	5 SubmittersRCV000298998 RCV001198806 RCV004544697 RCV000407993 RCV004591133
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	SNV Germline	Chr7:74060429	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome Supravalvar aortic stenosis Condition: not provided Inborn genetic diseases ELN-related disorder not specified	Criteria Provided Conflicting Classifications	CA4293156	rs_560081099	6 SubmittersRCV000627827 RCV000765973 RCV000762455 RCV002533162 RCV004533301 RCV004767452
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	SNV Germline	Chr7:74054768	Pathogenic/Likely pathogenic	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Williams syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_199621188	2 SubmittersRCV001036361 RCV002489542
NM_000501.4(ELN):c.35G>T (p.Gly12Val)	SNV Germline	Chr7:74028222	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Cutis laxa, autosomal dominant 1 Williams syndrome Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_367634266	5 SubmittersRCV001093392 RCV001161558 RCV001158353 RCV002505673
NM_000501.4(ELN):c.134-16T>C	SNV Germline	Chr7:74036539	Conflicting classifications of pathogenicity	Williams syndrome Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_782791376	2 SubmittersRCV001197812 RCV002069286