"GeneDx"[submitter] AND "LOC130003278"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 1331186	NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp)	GATA3, LOC130003278 (A70D)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GUncertain significance
Select item 301119	NM_001002295.2(GATA3):c.216G>T (p.Val72=)	GATA3, LOC130003278	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome +2 more	GBenign/Likely benign

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