"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ARFRP1" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 781505	NM_001267547.3(ARFRP1):c.447G>A (p.Thr149=)	ARFRP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3248336	NC_000020.10:g.(?_62328143)_(62356481_?)del	ARFRP1, TNFRSF6B +1 more	Deletion	not provided	GUncertain significance
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