"Blueprint Genetics"[submitter] AND "FLVCR1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521374	NM_014053.4(FLVCR1):c.7C>T (p.Arg3Trp)	FLVCR1 (R3W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 865989	NM_014053.4(FLVCR1):c.25G>A (p.Gly9Arg)	FLVCR1 (G9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 391253	NM_014053.4(FLVCR1):c.133G>A (p.Gly45Ser)	FLVCR1, LOC129932486 (G45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 867175	NM_014053.4(FLVCR1):c.539del (p.Gly180fs)	FLVCR1 (G180fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867215	NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser)	FLVCR1 (C185S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 866952	NM_014053.4(FLVCR1):c.704C>A (p.Ser235Tyr)	FLVCR1 (S235Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 374768	NM_014053.4(FLVCR1):c.1092+5G>A	FLVCR1	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 866250	NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=)	FLVCR1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 295326	NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)	FLVCR1 (S553A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity