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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 188735	NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)	HGD	Single nucleotide variant (stop lost)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449571	NM_000187.4(HGD):c.1290_1300del (p.Lys431fs)	HGD (K431fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2499874	NM_000187.4(HGD):c.1118C>T (p.Pro373Leu)	HGD (P373L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173	NM_000187.4(HGD):c.1102A>G (p.Met368Val)	HGD (M368V)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic
Select item 3168	NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	HGD (G161R)	Single nucleotide variant (missense variant)	Alkaptonuria +1 more	GPathogenic
Select item 710691	NM_000187.4(HGD):c.221A>T (p.Glu74Val)	HGD (E74V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic

ClinVar