"Ambry Genetics"[submitter] AND "GLRB"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1355526	NM_000824.5(GLRB):c.7T>G (p.Phe3Val)	GLRB (F3V)	Single nucleotide variant (missense variant)	Hyperekplexia 2 +1 more	GUncertain significance
Select item 1408105	NM_000824.5(GLRB):c.121T>C (p.Ser41Pro)	GLRB (S41P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 651260	NM_000824.5(GLRB):c.185G>A (p.Arg62Lys)	GLRB (R62K)	Single nucleotide variant (missense variant)	Hyperekplexia 2 +1 more	GConflicting classifications of pathogenicity
Select item 2263574	NM_000824.5(GLRB):c.302A>G (p.Tyr101Cys)	GLRB (Y101C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2154250	NM_000824.5(GLRB):c.344G>T (p.Arg115Met)	GLRB (R115M)	Single nucleotide variant (missense variant)	Hyperekplexia 2 +1 more	GUncertain significance
Select item 1427030	NM_000824.5(GLRB):c.415T>C (p.Trp139Arg)	GLRB (W139R)	Single nucleotide variant (missense variant)	Hyperekplexia 2 +1 more	GUncertain significance
Select item 3100335	NM_000824.5(GLRB):c.449G>T (p.Ser150Ile)	GLRB (S150I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334414	NM_000824.5(GLRB):c.675A>T (p.Lys225Asn)	GLRB (K225N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1159907	NM_000824.5(GLRB):c.736T>C (p.Tyr246His)	GLRB (Y246H)	Single nucleotide variant (missense variant)	Hyperekplexia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1503636	NM_000824.5(GLRB):c.848T>C (p.Leu283Pro)	GLRB (L283P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1413419	NM_000824.5(GLRB):c.1054G>A (p.Val352Met)	GLRB (V352M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1982882	NM_000824.5(GLRB):c.1067A>G (p.Asn356Ser)	GLRB (N356S)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 2 +1 more	GUncertain significance
Select item 2336719	NM_000824.5(GLRB):c.1076G>A (p.Arg359Lys)	GLRB (R359K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100333	NM_000824.5(GLRB):c.1129G>C (p.Gly377Arg)	GLRB (G377R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1518816	NM_000824.5(GLRB):c.1213T>G (p.Cys405Gly)	GLRB (C405G)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 2 +1 more	GUncertain significance
Select item 2474628	NM_000824.5(GLRB):c.1256A>T (p.Asp419Val)	GLRB (D419V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1405598	NM_000824.5(GLRB):c.1285G>A (p.Asp429Asn)	GLRB (D429N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1350523	NM_000824.5(GLRB):c.1339G>A (p.Gly447Arg)	GLRB (G447R)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 2 +1 more	GUncertain significance
Select item 2252581	NM_000824.5(GLRB):c.1414C>T (p.Arg472Ter)	GLRB (R472*)	Single nucleotide variant (nonsense +1 more)	Hyperekplexia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1445026	NM_000824.5(GLRB):c.1415G>A (p.Arg472Gln)	GLRB (R472Q)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 2 +1 more	GUncertain significance
Select item 1543487	NM_000824.5(GLRB):c.1458G>C (p.Leu486Phe)	GLRB (L486F)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1498307	NM_000824.5(GLRB):c.1466A>G (p.Asn489Ser)	GLRB (N489S)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 2 +1 more	GUncertain significance

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Items: 22