"GeneDx"[submitter] AND "HBG2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 3369592	NM_000184.3(HBG2):c.422C>A (p.Ala141Asp)	HBG2 (A141D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14981	NM_000184.3(HBG2):c.190C>T (p.His64Tyr)	HBG2, LOC106099065 (H64Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 423096	NM_000184.3(HBG2):c.151TCTGCC[3] (p.51SA[3])	HBG2, LOC106099065	Microsatellite (inframe_insertion)	not provided	GLikely pathogenic
Select item 14996	NM_000184.3(HBG2):c.125T>C (p.Phe42Ser)	HBG2, LOC106099065 (F42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252956	NM_000184.3(HBG2):c.74G>A (p.Gly25Glu)	HBG2, LOC106099065 (G25E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar