"GeneDx"[submitter] AND "LOC129996783"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 152415	GRCh38/hg38 6q14.3-15(chr6:87050381-87535518)x1	C6orf163, CFAP206 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2576756	NM_015021.3(ZNF292):c.79G>C (p.Glu27Gln)	LOC129996783, ZNF292 (E27Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1315681	NM_015021.3(ZNF292):c.82C>T (p.Arg28Trp)	LOC129996783, ZNF292 (R28W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1318490	NM_015021.3(ZNF292):c.118C>T (p.Arg40Trp)	LOC129996783, ZNF292 (R40W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3372473	NM_015021.3(ZNF292):c.168+4A>T	LOC129996783, ZNF292	Single nucleotide variant (intron variant)	not provided	GUncertain significance

ClinVar