Related gene-specific medical variations for Gene (Select 9152) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065646	NM_004211.5(SLC6A5):c.811+1G>A	SLC6A5	Single nucleotide variant (splice donor variant)	Hyperekplexia 3	GLikely pathogenic
Select item 3065421	NM_004211.5(SLC6A5):c.784G>C (p.Val262Leu)	SLC6A5 (V262L +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 3065028	NM_004211.5(SLC6A5):c.2076_2077insAA (p.Leu693fs)	SLC6A5 (L459fs +1 more)	Insertion (frameshift variant)	Hyperekplexia 3	GLikely pathogenic
Select item 2441905	NM_004211.5(SLC6A5):c.1436_1737+314del	SLC6A5	Deletion (splice acceptor variant +1 more)	Hyperekplexia 3	GLikely pathogenic
Select item 2436071	NM_004211.5(SLC6A5):c.1967A>C (p.Tyr656Ser)	SLC6A5 (Y422S +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2436070	NM_004211.5(SLC6A5):c.863A>G (p.Asn288Ser)	SLC6A5 (N288S +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 38370	NM_004211.5(SLC6A5):c.1444T>C (p.Trp482Arg)	SLC6A5 (W482R +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GPathogenic

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