"Ambry Genetics"[submitter] AND "GLUL"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 501502	NM_001033044.4(GLUL):c.1085A>G (p.Asn362Ser)	GLUL (N362S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2359955	NM_001033044.4(GLUL):c.1069C>T (p.Arg357Cys)	GLUL (R357C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282454	NM_001033044.4(GLUL):c.943G>T (p.Gly315Cys)	GLUL (G315C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299540	NM_001033044.4(GLUL):c.926T>C (p.Ile309Thr)	GLUL (I309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546678	NM_001033044.4(GLUL):c.811G>A (p.Glu271Lys)	GLUL (E271K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100400	NM_001033044.4(GLUL):c.677A>G (p.His226Arg)	GLUL (H226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 376910	NM_001033044.4(GLUL):c.515G>C (p.Gly172Ala)	GLUL, LOC126805944 (G172A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3100399	NM_001033044.4(GLUL):c.317G>A (p.Arg106Gln)	GLUL (R106Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303114	NM_001033044.4(GLUL):c.167-3C>T	GLUL	Single nucleotide variant (intron variant)	GLUL-related condition +1 more	GConflicting classifications of pathogenicity