C1836916[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129102	NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)	FLVCR1, LOC129932486 (A52P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 295325	NM_014053.4(FLVCR1):c.1593+9T>C	FLVCR1	Single nucleotide variant (intron variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GBenign
Select item 129103	NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)	FLVCR1 (T544M)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GBenign
Select item 95818	NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)	FLVCR2, FLVCR2-AS1 (V16A)	Single nucleotide variant (non-coding transcript variant +1 more)	Fowler syndrome +3 more	GBenign
Select item 95819	NM_017791.3(FLVCR2):c.543G>A (p.Val181=)	FLVCR2-AS1, FLVCR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 95820	NM_017791.3(FLVCR2):c.648C>G (p.Ser216=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign

ClinVar