C3553288[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5765	NM_004211.5(SLC6A5):c.916C>G (p.Leu306Val)	SLC6A5 (L306V +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GPathogenic
Select item 5761	NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter)	SLC6A5 (Y377* +1 more)	Single nucleotide variant (nonsense)	Hyperekplexia 3	GPathogenic
Select item 5767	NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met)	SLC6A5 (T425M +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 5762	NM_004211.5(SLC6A5):c.1294delinsTT (p.Val432fs)	SLC6A5 (V198fs +1 more)	Indel (frameshift variant)	Hyperekplexia 3	GPathogenic
Select item 5763	NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)	SLC6A5 (Y491C +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 5766	NM_004211.5(SLC6A5):c.1526A>G (p.Asn509Ser)	SLC6A5 (N509S +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GPathogenic
Select item 31540	NM_004211.5(SLC6A5):c.1530T>G (p.Ser510Arg)	SLC6A5 (S510R +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GPathogenic
Select item 5764	NM_004211.5(SLC6A5):c.1888C>T (p.Gln630Ter)	SLC6A5 (Q630* +1 more)	Single nucleotide variant (nonsense)	Hyperekplexia 3	GPathogenic

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