"GeneDx"[submitter] AND "C9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1409005	NM_001737.5(C9):c.1465dup (p.Leu489fs)	C9 (L489fs)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1029525	NM_001737.5(C9):c.460C>T (p.Arg154Ter)	C9 (R154*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17041	NM_001737.5(C9):c.162C>A (p.Cys54Ter)	C9 (C54*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 402465	NM_001737.5(C9):c.78-10G>A	C9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

ClinVar