"GeneDx"[submitter] AND "SAMD12"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 145965	GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1	MTBP, RAD21 +101 more	Copy number loss	See cases	GPathogenic
Select item 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 60406	GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1	CCN3, COL14A1 +55 more	Copy number loss	See cases	GPathogenic
Select item 145845	GRCh38/hg38 8q24.11(chr8:118190541-118231528)x3	SAMD12	Copy number gain	See cases	GLikely benign
Select item 151540	GRCh38/hg38 8q24.12(chr8:118406090-118413358)x1	SAMD12	Copy number loss	See cases	GLikely benign
Select item 3363918	NM_207506.3(SAMD12):c.218C>T (p.Pro73Leu)	LOC126860479, SAMD12 (P73L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar