"GeneDx"[submitter] AND "SMARCA5-AS1"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 151691	GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1	FREM3, GAB1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 1707054	NM_003601.4(SMARCA5):c.23C>A (p.Pro8Gln)	SMARCA5, SMARCA5-AS1 (P8Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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