"GeneDx"[submitter] AND "ARPC4"[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 3366016	NM_005718.5(ARPC4):c.475A>G (p.Ile159Val)	ARPC4, ARPC4-TTLL3 (I159V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic
Select item 253334	GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3	MTMR14, IL17RC +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 3360238	NM_005718.5(ARPC4):c.211C>T (p.Arg71Trp)	ARPC4 (R71W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar