"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812234	NM_004928.3(CFAP410):c.643-1G>C	CFAP410	Single nucleotide variant (splice acceptor variant)	Axial spondylometaphyseal dysplasia	GPathogenic
Select item 812235	NM_004928.3(CFAP410):c.643-2A>G	CFAP410	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis	GPathogenic
Select item 812236	NM_004928.3(CFAP410):c.364G>A (p.Asp122Asn)	CFAP410 (D81N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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