Related gene-specific medical variations for Gene (Select 8940) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997086	GRCh37/hg19 22q11.22(chr22:22313128-22556733)	TOP3B	Copy number loss	Delayed speech and language development	GLikely pathogenic
Select item 564992	GRCh37/hg19 22q11.22(chr22:22311348-22578983)x1	TOP3B	Copy number loss	not provided	GUncertain significance
Select item 395238	GRCh37/hg19 22q11.22(chr22:22313381-22336268)x3	TOP3B	Copy number gain	See cases	GBenign
Select item 395237	GRCh37/hg19 22q11.22(chr22:22313381-22336268)x1	TOP3B	Copy number loss	See cases	GBenign
Select item 221892	GRCh37/hg19 22q11.22(chr22:22312879-22556358)x3	TOP3B	Copy number gain	Premature ovarian failure	GBenign
Select item 219017	GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1	TOP3B	Copy number loss	See cases	GUncertain significance
Select item 157473	Single allele	TOP3B	Duplication	Large for gestational age	Gnot provided

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