BAZ2B-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 146341	GRCh38/hg38 2q24.2(chr2:159419675-159671190)x1	BAZ2B, BAZ2B-AS1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 156809	NM_001282805.1(MARCH7):c.-247472_-1723dup	BAZ2B-AS1, LOC120977012 +2 more	Duplication	Preeclampsia	Gnot provided

ClinVar