"Revvity Omics, Revvity"[submitter] AND "LOC130008987"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193470	NM_032790.4(ORAI1):c.1A>T (p.Met1Leu)	LOC130008987, ORAI1 (M1L)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +2 more	GUncertain significance
Select item 854069	NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu)	LOC130008987, ORAI1 (P5L)	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 541943	NM_032790.4(ORAI1):c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg)	LOC130008987, ORAI1	Duplication	Myopathy, tubular aggregate, 2 +2 more	GUncertain significance
Select item 784675	NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg)	LOC130008987, ORAI1 (G41R)	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity

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