"Baylor Genetics"[submitter] AND "YY1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029702	NM_003403.5(YY1):c.-5C>T	LOC130056452, YY1	Single nucleotide variant (5 prime UTR variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1029703	NM_003403.5(YY1):c.527G>A (p.Gly176Asp)	LOC130056453, YY1 (G176D)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1029701	NM_003403.5(YY1):c.562G>A (p.Gly188Ser)	YY1 (G188S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1032129	NM_003403.5(YY1):c.1032A>G (p.Gln344=)	YY1	Single nucleotide variant (synonymous variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2441948	NM_003403.5(YY1):c.1112G>A (p.Arg371His)	YY1 (R371H)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 625815	GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	BEGAIN, CCDC85C +35 more	Copy number gain	not provided	GLikely pathogenic
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic

ClinVar