"Genome-Nilou Lab"[submitter] AND "SLC6A5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304002	NM_004211.5(SLC6A5):c.304G>A (p.Gly102Ser)	SLC6A5 (G102S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 304008	NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser)	SLC6A5 (F124S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia +2 more	GBenign
Select item 304011	NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly)	SLC6A5 (A162G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 304018	NM_004211.5(SLC6A5):c.1230A>G (p.Ser410=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia +2 more	GBenign
Select item 1263754	NM_004211.5(SLC6A5):c.1260+49G>A	SLC6A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1266270	NM_004211.5(SLC6A5):c.1395+30C>T	SLC6A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294497	NM_004211.5(SLC6A5):c.1738-39C>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3 +1 more	GBenign
Select item 304034	NM_004211.5(SLC6A5):c.2103G>A (p.Glu701=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia +2 more	GBenign

ClinVar