"GeneDx"[submitter] AND "C8A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 17039	NM_000562.3(C8A):c.277C>A (p.Gln93Lys)	C8A (Q93K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 424158	NM_000562.3(C8A):c.445T>C (p.Ser149Pro)	C8A (S149P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423171	NM_000562.3(C8A):c.856-12G>A	C8A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1434860	NM_000562.3(C8A):c.1321A>G (p.Ile441Val)	C8A (I441V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1053353	NM_000562.3(C8A):c.1528C>T (p.Leu510Phe)	C8A (L510F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

ClinVar