"Baylor Genetics"[submitter] AND "ELN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213194	NM_000501.4(ELN):c.92G>A (p.Gly31Glu)	ELN (G31E)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 502265	NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)	ELN	Deletion (inframe_deletion)	Williams syndrome +2 more	GConflicting classifications of pathogenicity
Select item 696295	NM_000501.4(ELN):c.1884C>T (p.Ala628=)	ELN	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 625632	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625631	GRCh37/hg19 7q11.23(chr7:72700996-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625629	GRCh37/hg19 7q11.23(chr7:72744494-74339044)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625551	GRCh37/hg19 7q11.23(chr7:72721449-73959106)	ABHD11, ABHD11-AS1 +24 more	Copy number loss	Williams syndrome	GPathogenic

ClinVar