"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SLC2A4R - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 788689	NM_020062.4(SLC2A4RG):c.830A>G (p.Glu277Gly)	SLC2A4RG (E277G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741937	NM_020062.4(SLC2A4RG):c.990G>A (p.Pro330=)	SLC2A4RG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783874	NM_020062.4(SLC2A4RG):c.1021G>C (p.Ala341Pro)	SLC2A4RG (A341P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3248317	NC_000020.10:g.(?_61990880)_(62680869_?)del	ABHD16B, ARFRP1 +23 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3248232	NC_000020.10:g.(?_61978090)_(62562921_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 3248230	NC_000020.10:g.(?_61978090)_(62562921_?)del	ABHD16B, ARFRP1 +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	ABHD16B, ADRM1 +50 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	BHLHE23, BIRC7 +49 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 833250	NC_000020.10:g.(?_61977556)_(62562941_?)dup	HELZ2, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 830535	NC_000020.10:g.(?_61977556)_(62562941_?)del	ABHD16B, ARFRP1 +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic