C0751039[trait identifier] AND "Children's Hospital of Soochow Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557955	NM_000082.4(ERCC8):c.1042-1G>A	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 586967	NM_000082.4(ERCC8):c.78-2A>T	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GPathogenic