"Revvity Omics, Revvity"[submitter] AND "GLRA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324483	NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp)	GLRA1 (R163W +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +1 more	GPathogenic/Likely pathogenic
Select item 1323021	NM_000171.4(GLRA1):c.675C>A (p.Tyr225Ter)	GLRA1 (Y142* +1 more)	Single nucleotide variant (nonsense)	Hyperekplexia 1	GPathogenic
Select item 948005	NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)	GLRA1 (T107M +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +2 more	GPathogenic/Likely pathogenic
Select item 16068	NM_000171.4(GLRA1):c.523A>G (p.Met175Val)	GLRA1 (M175V +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GConflicting classifications of pathogenicity
Select item 2689137	NM_000171.4(GLRA1):c.185-3C>T	GLRA1	Single nucleotide variant (intron variant)	Hyperekplexia 1	GUncertain significance
Select item 2440523	NM_000171.4(GLRA1):c.147del (p.Ser50fs)	GLRA1 (S50fs)	Deletion (frameshift variant +1 more)	Hyperekplexia 1	GLikely pathogenic
Select item 2432167	NM_000171.4(GLRA1):c.14A>G (p.Asn5Ser)	GLRA1 (N5S)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 1	GUncertain significance

ClinVar