"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324229	NM_000717.5(CA4):c.258C>T (p.Asn86=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596737	NM_000717.5(CA4):c.492G>A (p.Ala164=)	CA4	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GBenign
Select item 324238	NM_000717.5(CA4):c.807T>C (p.Asn269=)	CA4	Single nucleotide variant (synonymous variant +1 more)	CA4-related condition +2 more	GLikely benign

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ClinVar