"Blueprint Genetics"[submitter] AND "SLC7A14"[gene] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 865930	NM_020949.3(SLC7A14):c.1666C>T (p.Arg556Trp)	SLC7A14, SLC7A14-AS1 (R556W)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 711903	NM_020949.3(SLC7A14):c.615G>A (p.Leu205=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity