IL17RA[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1025305	NM_014339.7(IL17RA):c.53T>C (p.Leu18Pro)	IL17RA (L18P)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1155724	NM_014339.7(IL17RA):c.54G>A (p.Leu18=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1524228	NM_014339.7(IL17RA):c.55C>T (p.Leu19Phe)	IL17RA (L19F)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 962480	NM_014339.7(IL17RA):c.56T>G (p.Leu19Arg)	IL17RA (L19R)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1582090	NM_014339.7(IL17RA):c.57C>T (p.Leu19=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1358265	NM_014339.7(IL17RA):c.64C>T (p.Leu22Phe)	IL17RA (L22F)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 476367	NM_014339.7(IL17RA):c.70G>C (p.Gly24Arg)	IL17RA (G24R)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GUncertain significance
Select item 2143254	NM_014339.7(IL17RA):c.72C>T (p.Gly24=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 837105	NM_014339.7(IL17RA):c.73G>C (p.Val25Leu)	IL17RA (V25L)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2420125	NM_014339.7(IL17RA):c.75G>A (p.Val25=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 648874	NM_014339.7(IL17RA):c.80C>A (p.Ala27Asp)	IL17RA (A27D)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 750206	NM_014339.7(IL17RA):c.81C>T (p.Ala27=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2049952	NM_014339.7(IL17RA):c.83C>T (p.Pro28Leu)	IL17RA (P28L)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1149876	NM_014339.7(IL17RA):c.84G>T (p.Pro28=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2714599	NM_014339.7(IL17RA):c.93C>T (p.Ala31=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1146120	NM_014339.7(IL17RA):c.100C>A (p.Arg34=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1115823	NM_014339.7(IL17RA):c.105C>G (p.Leu35=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1044680	NM_014339.7(IL17RA):c.106C>G (p.Leu36Val)	IL17RA (L36V)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1158315	NM_014339.7(IL17RA):c.120G>C (p.Ala40=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 898008	NM_014339.7(IL17RA):c.121C>G (p.Leu41Val)	IL17RA (L41V)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1615272	NM_014339.7(IL17RA):c.126C>T (p.Val42=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 575944	NM_014339.7(IL17RA):c.133C>A (p.Gln45Lys)	IL17RA (Q45K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 639564	NM_014339.7(IL17RA):c.138G>A (p.Pro46=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GUncertain significance
Select item 1568173	NM_014339.7(IL17RA):c.138+8_138+9del	IL17RA	Deletion (intron variant)	Immunodeficiency 51	GLikely benign
Select item 340564	NM_014339.7(IL17RA):c.138+12C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GBenign
Select item 1553552	NM_014339.7(IL17RA):c.138+16G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1528805	NM_014339.7(IL17RA):c.138+18G>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2687982	NM_014339.7(IL17RA):c.138+87G>T	IL17RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688175	NM_014339.7(IL17RA):c.138+110T>A	IL17RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1996646	NM_014339.7(IL17RA):c.139-18A>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 3023722	NM_014339.7(IL17RA):c.139-16C>G	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2081419	NM_014339.7(IL17RA):c.139-13C>G	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1542387	NM_014339.7(IL17RA):c.139-6C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1433754	NM_014339.7(IL17RA):c.140G>A (p.Gly47Glu)	IL17RA (G47E)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1478011	NM_014339.7(IL17RA):c.142C>A (p.Leu48Ile)	IL17RA (L48I)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2768209	NM_014339.7(IL17RA):c.144A>G (p.Leu48=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 340565	NM_014339.7(IL17RA):c.152C>T (p.Thr51Met)	IL17RA (T51M)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GConflicting classifications of pathogenicity
Select item 1112016	NM_014339.7(IL17RA):c.153G>A (p.Thr51=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1110579	NM_014339.7(IL17RA):c.153G>T (p.Thr51=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1512714	NM_014339.7(IL17RA):c.162T>C (p.Asn54=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GUncertain significance
Select item 1067524	NM_014339.7(IL17RA):c.163+2T>C	IL17RA	Single nucleotide variant (splice donor variant)	Immunodeficiency 51	GLikely pathogenic
Select item 1586165	NM_014339.7(IL17RA):c.163+19TTC[2]	IL17RA	Microsatellite (intron variant)	Immunodeficiency 51	GBenign
Select item 2192991	NM_014339.7(IL17RA):c.164-19G>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 649522	NM_014339.7(IL17RA):c.166_169dup (p.Cys57fs)	IL17RA (C57fs)	Duplication (frameshift variant)	Immunodeficiency 51	GPathogenic
Select item 650832	NM_014339.7(IL17RA):c.166A>G (p.Thr56Ala)	IL17RA (T56A)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2794701	NM_014339.7(IL17RA):c.185G>A (p.Trp62Ter)	IL17RA (W62*)	Single nucleotide variant (nonsense)	Immunodeficiency 51	GPathogenic
Select item 1386866	NM_014339.7(IL17RA):c.186G>A (p.Trp62Ter)	IL17RA (W62*)	Single nucleotide variant (nonsense)	Immunodeficiency 51	GPathogenic
Select item 372206	NM_014339.7(IL17RA):c.196C>T (p.Arg66Ter)	IL17RA (R66*)	Single nucleotide variant (nonsense)	Immunodeficiency 51	GPathogenic
Select item 340566	NM_014339.7(IL17RA):c.199A>G (p.Asn67Asp)	IL17RA (N67D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2000048	NM_014339.7(IL17RA):c.205del (p.Thr69fs)	IL17RA (T69fs)	Deletion (frameshift variant)	Immunodeficiency 51	GPathogenic
Select item 2815579	NM_014339.7(IL17RA):c.210C>G (p.Pro70=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1375868	NM_014339.7(IL17RA):c.213dup (p.Ser72fs)	IL17RA (S72fs)	Duplication (frameshift variant)	Immunodeficiency 51	GPathogenic
Select item 1093473	NM_014339.7(IL17RA):c.213C>T (p.Ser71=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 340567	NM_014339.7(IL17RA):c.220A>G (p.Lys74Glu)	IL17RA (K74E)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 3109150	NM_014339.7(IL17RA):c.223G>A (p.Asp75Asn)	IL17RA (D75N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 957482	NM_014339.7(IL17RA):c.227T>C (p.Leu76Pro)	IL17RA (L76P)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1111384	NM_014339.7(IL17RA):c.228G>A (p.Leu76=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 857687	NM_014339.7(IL17RA):c.233del (p.Ile78fs)	IL17RA (I78fs)	Deletion (frameshift variant)	Immunodeficiency 51	GPathogenic
Select item 743117	NM_014339.7(IL17RA):c.243C>T (p.His81=)	IL17RA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698678	NM_014339.7(IL17RA):c.246T>C (p.Phe82=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1360422	NM_014339.7(IL17RA):c.247G>A (p.Ala83Thr)	IL17RA (A83T)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1024692	NM_014339.7(IL17RA):c.250C>G (p.His84Asp)	IL17RA (H84D)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1397378	NM_014339.7(IL17RA):c.251A>G (p.His84Arg)	IL17RA (H84R)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2053412	NM_014339.7(IL17RA):c.256C>A (p.Gln86Lys)	IL17RA (Q86K)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2909430	NM_014339.7(IL17RA):c.258A>G (p.Gln86=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 3109153	NM_014339.7(IL17RA):c.259C>A (p.Gln87Lys)	IL17RA (Q87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 372207	NM_014339.7(IL17RA):c.268del (p.Leu90fs)	IL17RA (L90fs)	Deletion (frameshift variant)	Immunodeficiency 51	GPathogenic
Select item 2169147	NM_014339.7(IL17RA):c.276C>T (p.Pro92=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
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 2796909	NM_014339.7(IL17RA):c.279G>A (p.Val93=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1469957	NM_014339.7(IL17RA):c.281C>T (p.Ala94Val)	IL17RA (A94V)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 642398	NM_014339.7(IL17RA):c.289G>A (p.Glu97Lys)	IL17RA (E97K)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GUncertain significance
Select item 3235884	NM_014339.7(IL17RA):c.292T>C (p.Trp98Arg)	IL17RA (W98R)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GLikely pathogenic
Select item 2173615	NM_014339.7(IL17RA):c.297A>G (p.Thr99=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 578680	NM_014339.7(IL17RA):c.310+2T>C	IL17RA	Single nucleotide variant (splice donor variant)	Immunodeficiency 51	GLikely pathogenic
Select item 860751	NM_014339.7(IL17RA):c.310+3G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GUncertain significance
Select item 1672956	NM_014339.7(IL17RA):c.310+9G>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2123201	NM_014339.7(IL17RA):c.310+20G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1535592	NM_014339.7(IL17RA):c.311-20C>G	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1594201	NM_014339.7(IL17RA):c.311-18C>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2810366	NM_014339.7(IL17RA):c.311-12C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1017602	NM_014339.7(IL17RA):c.311-10T>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 3017480	NM_014339.7(IL17RA):c.311-7C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2778055	NM_014339.7(IL17RA):c.311-7C>G	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1660972	NM_014339.7(IL17RA):c.311-4G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1014687	NM_014339.7(IL17RA):c.318C>G (p.Ile106Met)	IL17RA (I106M)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1563154	NM_014339.7(IL17RA):c.327C>G (p.Leu109=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 714604	NM_014339.7(IL17RA):c.327C>T (p.Leu109=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 542911	NM_014339.7(IL17RA):c.328G>A (p.Glu110Lys)	IL17RA (E110K)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GUncertain significance
Select item 2002283	NM_014339.7(IL17RA):c.332G>T (p.Gly111Val)	IL17RA (G111V)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
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 2014320	NM_014339.7(IL17RA):c.354G>C (p.Gln118His)	IL17RA (Q118H)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 340568	NM_014339.7(IL17RA):c.354G>A (p.Gln118=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GUncertain significance
Select item 340569	NM_014339.7(IL17RA):c.355C>A (p.Leu119Met)	IL17RA (L119M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1610480	NM_014339.7(IL17RA):c.360C>T (p.Asn120=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2067191	NM_014339.7(IL17RA):c.361A>G (p.Thr121Ala)	IL17RA (T121A)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2152285	NM_014339.7(IL17RA):c.370C>T (p.Arg124Cys)	IL17RA (R124C)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 971421	NM_014339.7(IL17RA):c.371G>A (p.Arg124His)	IL17RA (R124H)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1938723	NM_014339.7(IL17RA):c.378C>G (p.Cys126Trp)	IL17RA (C126W)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2466899	NM_014339.7(IL17RA):c.379G>A (p.Val127Ile)	IL17RA (V127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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