"GeneDx"[submitter] AND "LOC130066894"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 714587	NM_014339.7(IL17RA):c.19C>T (p.Pro7Ser)	IL17RA, LOC130066894 (P7S)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GConflicting classifications of pathogenicity

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