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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538306	NM_181672.3(OGT):c.210G>T (p.Arg70Ser)	OGT (R70S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3204163	NM_181672.3(OGT):c.259C>G (p.Leu87Val)	OGT (L77V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521426	NM_181672.3(OGT):c.307G>A (p.Gly103Arg)	OGT (G103R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3302237	NM_181672.3(OGT):c.620T>C (p.Ile207Thr)	OGT (I197T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208705	NM_181672.3(OGT):c.775G>A (p.Ala259Thr)	OGT (A249T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2788903	NM_181672.3(OGT):c.1856C>T (p.Pro619Leu)	OGT (P609L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2615074	NM_181672.3(OGT):c.2113A>G (p.Ile705Val)	OGT (I695V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278360	NM_181672.3(OGT):c.2284G>A (p.Gly762Arg)	OGT (G762R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302238	NM_181672.3(OGT):c.2386C>G (p.Gln796Glu)	OGT (Q796E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220963	NM_181672.3(OGT):c.2695C>T (p.Arg899Cys)	OGT (R889C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712281	NM_181672.3(OGT):c.3029A>G (p.Lys1010Arg)	OGT (K1000R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance