C1845407[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285396	NM_001256789.3(CACNA1F):c.2543+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 283388	NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)	CACNA1F (N746T +2 more)	Single nucleotide variant (missense variant)	CACNA1F-related disorder +5 more	GLikely benign
Select item 208890	NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His)	CACNA1F (R523H +2 more)	Single nucleotide variant (missense variant)	CACNA1F-related disorder +4 more	GBenign/Likely benign

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ClinVar