"ISCA Site 6"[submitter] AND "LARGE1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 395295	GRCh37/hg19 22q12.3(chr22:34146948-34264628)x1	LARGE1	Copy number loss	See cases	GUncertain significance
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394755	GRCh37/hg19 22q12.3(chr22:34146948-34311815)x3	LARGE1	Copy number gain	See cases	GLikely benign
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic

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