"GeneDx"[submitter] AND "LOC126806006"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 791832	NM_016343.4(CENPF):c.312G>A (p.Leu104=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577653	NM_016343.4(CENPF):c.322A>C (p.Lys108Gln)	CENPF, LOC126806006 (K108Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312876	NM_016343.4(CENPF):c.346C>G (p.Gln116Glu)	CENPF, LOC126806006 (Q116E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1187948	NM_016343.4(CENPF):c.359+56C>T	LOC126806006, CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205759	NM_016343.4(CENPF):c.359+212C>T	CENPF, LOC126806006	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar