"GeneDx"[submitter] AND "IL17RA"[gene] - ClinVar - NCBI

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Items: 14

	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
Select item 1315277	NM_014339.7(IL17RA):c.340T>A (p.Leu114Ile)	IL17RA (L114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306791	NM_014339.7(IL17RA):c.481G>C (p.Val161Leu)	IL17RA (V161L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1315196	NM_014339.7(IL17RA):c.1970_1993dup (p.Arg657_Pro664dup)	IL17RA	Duplication (inframe_insertion)	Immunodeficiency 51 +1 more	GUncertain significance
Select item 340608	NM_014339.7(IL17RA):c.2160C>T (p.Pro720=)	IL17RA	Single nucleotide variant (synonymous variant)	Familial Candidiasis, Recessive +3 more	GBenign
Select item 962492	NM_014339.7(IL17RA):c.2242C>T (p.Leu748Phe)	IL17RA (L748F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305953	NM_014339.7(IL17RA):c.2426C>A (p.Thr809Lys)	IL17RA (T775K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253399	GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4	CECR2, GAB4 +17 more	Copy number gain	See cases	GPathogenic