"Ambry Genetics"[submitter] AND "LOC126805705"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281793	NM_013285.3(GNL2):c.1894A>T (p.Ile632Leu)	GNL2, LOC126805705 (I449L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283033	NM_013285.3(GNL2):c.1792A>G (p.Lys598Glu)	GNL2, LOC126805705 (K415E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232265	NM_013285.3(GNL2):c.1732G>A (p.Glu578Lys)	GNL2, LOC126805705 (E578K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100639	NM_013285.3(GNL2):c.1730C>T (p.Ala577Val)	GNL2, LOC126805705 (A577V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281794	NM_013285.3(GNL2):c.1570C>G (p.Gln524Glu)	GNL2, LOC126805705 (Q341E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100638	NM_013285.3(GNL2):c.1564A>T (p.Met522Leu)	GNL2, LOC126805705 (M339L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281800	NM_013285.3(GNL2):c.1556A>T (p.Asn519Ile)	GNL2, LOC126805705 (N587I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 818173	NM_013285.3(GNL2):c.1480G>A (p.Val494Ile)	GNL2, LOC126805705 (V494I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100635	NM_013285.3(GNL2):c.1459C>G (p.Gln487Glu)	GNL2, LOC126805705 (Q487E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100634	NM_013285.3(GNL2):c.1456G>A (p.Ala486Thr)	GNL2, LOC126805705 (A554T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign