"GeneDx"[submitter] AND "LOC129997773"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 2413062	NM_001080453.3(INTS1):c.5652C>G (p.Ile1884Met)	INTS1, LOC129997773 (I1884M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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