"FLVCR1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2029500	NM_014053.4(FLVCR1):c.675C>G (p.Ala225=)	FLVCR1	Single nucleotide variant (synonymous variant)	FLVCR1-related condition +1 more	GLikely benign
Select item 1537504	NM_014053.4(FLVCR1):c.738+8C>T	FLVCR1	Single nucleotide variant (intron variant)	FLVCR1-related condition +1 more	GLikely benign
Select item 295317	NM_014053.4(FLVCR1):c.738+9T>C	FLVCR1	Single nucleotide variant (intron variant)	Posterior column ataxia-retinitis pigmentosa syndrome +2 more	GConflicting classifications of pathogenicity
Select item 374768	NM_014053.4(FLVCR1):c.1092+5G>A	FLVCR1	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1652746	NM_014053.4(FLVCR1):c.1632G>T (p.Thr544=)	FLVCR1	Single nucleotide variant (synonymous variant)	FLVCR1-related condition +1 more	GLikely benign
Select item 295326	NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)	FLVCR1 (S553A)	Single nucleotide variant (missense variant)	FLVCR1-related condition +4 more	GConflicting classifications of pathogenicity

ClinVar