"PreventionGenetics, part of Exact Sciences"[submitter] AND "GLRA1"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352308	NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu)	GLRA1 (P394L +2 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +3 more	GBenign
Select item 464184	NM_000171.4(GLRA1):c.1179C>T (p.Pro393=)	GLRA1	Single nucleotide variant (synonymous variant)	GLRA1-related disorder +1 more	GLikely benign
Select item 38327	NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)	GLRA1 (G378S +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1421053	NM_000171.4(GLRA1):c.1080C>T (p.Gly360=)	GLRA1	Single nucleotide variant (synonymous variant)	GLRA1-related disorder +1 more	GLikely benign
Select item 711624	NM_000171.4(GLRA1):c.888C>T (p.Ser296=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +1 more	GLikely benign
Select item 16070	NM_000171.4(GLRA1):c.862G>A (p.Val288Met)	GLRA1 (V288M +1 more)	Single nucleotide variant (missense variant)	GLRA1-related disorder	GUncertain significance
Select item 352315	NM_000171.4(GLRA1):c.559+8T>G	GLRA1	Single nucleotide variant (intron variant)	Hyperekplexia 1 +3 more	GBenign
Select item 2632588	NM_000171.4(GLRA1):c.536C>A (p.Thr179Lys)	GLRA1 (T179K +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GUncertain significance
Select item 906752	NM_000171.4(GLRA1):c.477-5C>T	GLRA1	Single nucleotide variant (intron variant)	Hyperekplexia 1 +2 more	GConflicting classifications of pathogenicity
Select item 575744	NM_000171.4(GLRA1):c.199G>A (p.Val67Met)	GLRA1 (V67M)	Single nucleotide variant (missense variant +1 more)	GLRA1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2718538	NM_000171.4(GLRA1):c.184+4G>A	GLRA1	Single nucleotide variant (intron variant)	GLRA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 956517	NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter)	GLRA1 (R8*)	Single nucleotide variant (nonsense +1 more)	Hereditary hyperekplexia +2 more	GConflicting classifications of pathogenicity