"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC7A9"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 892436	NM_014270.5(SLC7A9):c.972G>A (p.Ala324=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504259	NM_014270.5(SLC7A9):c.956_957dup (p.Thr320fs)	SLC7A9 (T320fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 871228	NM_014270.5(SLC7A9):c.857C>T (p.Ser286Phe)	SLC7A9 (S286F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 871229	NM_014270.5(SLC7A9):c.611_612del (p.Thr204fs)	SLC7A9 (T204fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 5781	NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	SLC7A9 (G105R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2649690	NM_014270.5(SLC7A9):c.230C>T (p.Thr77Met)	SLC7A9 (T77M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 623939	NM_014270.5(SLC7A9):c.201C>T (p.Ile67=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity

ClinVar