"GeneDx"[submitter] AND "FERRY3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375590	NM_020374.4(FERRY3):c.1412C>G (p.Pro471Arg)	FERRY3 (P187R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 592164	NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)	FERRY3 (R454* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 66 +1 more	GPathogenic/Likely pathogenic
Select item 1236814	NM_020374.4(FERRY3):c.1033+320CT[13]	FERRY3	Microsatellite (intron variant)	not provided	GBenign
Select item 3342369	NM_020374.4(FERRY3):c.916C>T (p.Arg306Ter)	FERRY3 (R133* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3364092	NM_020374.4(FERRY3):c.729-1G>A	FERRY3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 3369987	NM_020374.4(FERRY3):c.502G>A (p.Glu168Lys)	FERRY3 (E168K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3364114	NM_020374.4(FERRY3):c.169A>C (p.Ile57Leu)	FERRY3 (I57L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

ClinVar