"Invitae"[submitter] AND "SLC7A4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 778627	NM_004173.3(SLC7A4):c.1551dup (p.Ser518fs)	SLC7A4 (S518fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 722278	NM_004173.3(SLC7A4):c.982+7G>A	SLC7A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777667	NM_004173.3(SLC7A4):c.675C>G (p.Asp225Glu)	SLC7A4 (D225E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 741424	NM_004173.3(SLC7A4):c.321C>T (p.Tyr107=)	SLC7A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784558	NM_004173.3(SLC7A4):c.141G>A (p.Val47=)	SLC7A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 830866	NC_000022.10:g.(?_21067569)_(21414817_?)del	P2RX6, PI4KA +7 more	Deletion	not provided	GPathogenic

ClinVar