"PreventionGenetics, part of Exact Sciences"[submitter] AND "IL17RA"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045350	NM_014339.7(IL17RA):c.-6C>G	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	IL17RA-related disorder	GLikely benign
Select item 340562	NM_014339.7(IL17RA):c.20C>T (p.Pro7Leu)	IL17RA, LOC130066894 (P7L)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +2 more	GLikely benign
Select item 714588	NM_014339.7(IL17RA):c.30T>A (p.Ala10=)	IL17RA, LOC130066894	Single nucleotide variant (synonymous variant)	IL17RA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 340575	NM_014339.7(IL17RA):c.561C>T (p.His187=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51 +2 more	GConflicting classifications of pathogenicity
Select item 3055964	NM_014339.7(IL17RA):c.744C>T (p.His248=)	IL17RA	Single nucleotide variant (synonymous variant)	IL17RA-related disorder	GLikely benign
Select item 720214	NM_014339.7(IL17RA):c.978G>A (p.Thr326=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	IL17RA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 542925	NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)	IL17RA (V392L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 542921	NM_014339.7(IL17RA):c.1412A>G (p.His471Arg)	IL17RA (H471R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GLikely benign
Select item 2057429	NM_014339.7(IL17RA):c.1675C>T (p.Leu559=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51 +1 more	GLikely benign
Select item 2716431	NM_014339.7(IL17RA):c.2070C>A (p.Ala690=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51 +1 more	GLikely benign
Select item 476363	NM_014339.7(IL17RA):c.2268C>T (p.Phe756=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51 +1 more	GLikely benign
Select item 340611	NM_014339.7(IL17RA):c.2295G>A (p.Gln765=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51 +1 more	GBenign