C0376524[trait identifier] AND "Yale Center for Mendelian Genomics, Ya - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7935	NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	EYA1 (R440Q +4 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 1344642	NM_000503.6(EYA1):c.966+1G>C	EYA1	Single nucleotide variant (splice donor variant)	Branchiooculofacial syndrome	GLikely pathogenic