"Precision Medicine Center, Zhengzhou University"[submitter] AND "EYA1 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681781	NM_000503.6(EYA1):c.1545T>G (p.Tyr515Ter)	EYA1 (Y393* +5 more)	Single nucleotide variant (nonsense)	Branchiootic syndrome 1	GPathogenic
Select item 1202644	NM_000503.6(EYA1):c.1425del (p.Asp476fs)	EYA1 (D354fs +4 more)	Deletion (frameshift variant)	Branchiootic syndrome 1	GPathogenic
Select item 2580901	NM_000503.6(EYA1):c.1408G>T (p.Glu470Ter)	EYA1 (E348* +5 more)	Single nucleotide variant (nonsense)	Branchiootic syndrome 1	GPathogenic
Select item 1202645	NM_000503.6(EYA1):c.1140+1G>A	EYA1	Single nucleotide variant (intron variant +1 more)	Branchiootic syndrome 1	GPathogenic
Select item 854287	NM_000503.6(EYA1):c.1050+1G>T	EYA1	Single nucleotide variant (splice donor variant)	Branchiootic syndrome 1 +1 more	GPathogenic
Select item 429912	NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	EYA1 (R297* +5 more)	Single nucleotide variant (nonsense)	EYA1-related disorder +5 more	GPathogenic
Select item 2671884	NM_000503.6(EYA1):c.639+3A>C	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1	GLikely pathogenic

ClinVar