"GeneDx"[submitter] AND "LOC129936144"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1164864	NM_153460.4(IL17RC):c.2133C>G (p.Gly711=)	CRELD1, IL17RC +1 more	Single nucleotide variant (synonymous variant +1 more)	Candidiasis, familial, 9 +2 more	GBenign
Select item 1253493	NC_000003.12:g.9933669A>G	CRELD1, LOC129936144	Single nucleotide variant	not provided	GBenign
Select item 1257973	NC_000003.12:g.9933702C>G	LOC129936144, CRELD1	Single nucleotide variant	not provided	GBenign

ClinVar