"GeneDx"[submitter] AND "ARV1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57820	GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3	AGT, ARV1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1339604	NM_022786.3(ARV1):c.2T>C (p.Met1Thr)	ARV1, LOC129932761 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 839151	NM_022786.3(ARV1):c.518dup (p.Pro174fs)	ARV1 (P207fs +1 more)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 38 +1 more	GPathogenic/Likely pathogenic
Select item 2446533	NM_022786.3(ARV1):c.518del (p.Lys173fs)	ARV1 (K173fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 817303	NM_022786.3(ARV1):c.517_518insC (p.Lys173fs)	ARV1 (K173fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 429868	NM_022786.3(ARV1):c.656A>C (p.Asn219Thr)	ARV1 (N219T +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GUncertain significance
Select item 1708831	NM_022786.3(ARV1):c.746T>A (p.Val249Asp)	ARV1 (V249D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580659	NM_022786.3(ARV1):c.*4+1G>A	ARV1	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance