"Reproductive Health Research and Development, BGI Genomics"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546072	NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys)	CRB2 (N800K)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 180703	NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln)	CRB2 (R1249Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity