"GeneDx"[submitter] AND "SMG9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573804	NM_019108.4(SMG9):c.1235A>G (p.Asn412Ser)	SMG9 (N412S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253491	NM_019108.4(SMG9):c.708del (p.Thr235_Tyr236insTer)	SMG9	Deletion (nonsense)	not provided	GUncertain significance
Select item 2573805	NM_019108.4(SMG9):c.658G>A (p.Val220Ile)	SMG9 (V220I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2572760	NM_019108.4(SMG9):c.193C>T (p.Pro65Ser)	SMG9 (P65S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572731	NM_019108.4(SMG9):c.22C>T (p.Gln8Ter)	SMG9 (Q8*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

ClinVar