"Baylor Genetics"[submitter] AND "IL17RA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 658649	NM_014339.7(IL17RA):c.277G>A (p.Val93Met)	IL17RA (V93M)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 542925	NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)	IL17RA (V392L +1 more)	Single nucleotide variant (missense variant)	IL17RA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 719755	NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val)	IL17RA (A377V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GConflicting classifications of pathogenicity
Select item 1029306	NM_014339.7(IL17RA):c.1907A>G (p.Asp636Gly)	IL17RA (D636G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 625807	GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)	ADA2, ARVCF +43 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625806	GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	ADA2, ARVCF +42 more	Copy number gain	not provided	GPathogenic
Select item 625581	GRCh37/hg19 22q11.1-11.21(chr22:17289827-17938918)	ADA2, CECR3 +5 more	Copy number gain	Cat eye syndrome	GPathogenic

ClinVar