C3553288[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38371	NM_004211.5(SLC6A5):c.323del (p.Pro108fs)	SLC6A5 (P108fs)	Deletion (5 prime UTR variant +1 more)	Hyperekplexia 3	GPathogenic
Select item 540364	NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp)	SLC6A5 (A228D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1028704	NM_004211.5(SLC6A5):c.1346G>A (p.Gly449Glu)	SLC6A5 (G215E +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2441905	NM_004211.5(SLC6A5):c.1436_1737+314del	SLC6A5	Deletion (splice acceptor variant +1 more)	Hyperekplexia 3	GLikely pathogenic
Select item 1028705	NM_004211.5(SLC6A5):c.1738-8G>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GUncertain significance
Select item 581456	NM_004211.5(SLC6A5):c.1913C>T (p.Ser638Phe)	SLC6A5 (S638F +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +1 more	GUncertain significance
Select item 643116	NM_004211.5(SLC6A5):c.1969+4A>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GUncertain significance
Select item 304036	NM_004211.5(SLC6A5):c.2186T>C (p.Ile729Thr)	SLC6A5 (I729T +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia +1 more	GUncertain significance

ClinVar