"GeneDx"[submitter] AND "LOC126863140"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 1288895	NM_000395.3(CSF2RB):c.201-294C>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181284	NM_000395.3(CSF2RB):c.201-247C>G	LOC126863140, CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288350	NM_000395.3(CSF2RB):c.201-169G>A	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277712	NM_000395.3(CSF2RB):c.201-56T>C	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302214	NM_000395.3(CSF2RB):c.274G>A (p.Val92Met)	CSF2RB, LOC126863140 (V92M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar