LOC129934894[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 183383	NC_000002.10:g.148447496_149377297del	LOC129934890, LOC129934891 +15 more	Deletion	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 150817	GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1	EPC2, KIF5C +21 more	Copy number loss	See cases	GPathogenic
Select item 148618	GRCh38/hg38 2q23.1(chr2:148440874-148677035)x3	EPC2, LOC129934889 +7 more	Copy number gain	See cases	GUncertain significance

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