ClinVar for Gene (Select 23765) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362583	NM_014339.7(IL17RA):c.112_119del (p.His38fs)	IL17RA (H38fs)	Deletion (frameshift variant)	Immunodeficiency 51	GLikely pathogenic
Select item 3362564	NM_014339.7(IL17RA):c.721del (p.Glu241fs)	IL17RA (E241fs)	Deletion (frameshift variant)	Immunodeficiency 51	GLikely pathogenic
Select item 3285771	NM_014339.7(IL17RA):c.610G>C (p.Asp204His)	IL17RA (D204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285770	NM_014339.7(IL17RA):c.1214C>G (p.Ala405Gly)	IL17RA (A405G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285769	NM_014339.7(IL17RA):c.1661C>T (p.Ser554Leu)	IL17RA (S520L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285768	NM_014339.7(IL17RA):c.316A>G (p.Ile106Val)	IL17RA (I106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285766	NM_014339.7(IL17RA):c.1990C>T (p.Pro664Ser)	IL17RA (P664S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285765	NM_014339.7(IL17RA):c.1885T>A (p.Ser629Thr)	IL17RA (S595T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285764	NM_014339.7(IL17RA):c.1292G>A (p.Arg431His)	IL17RA (R431H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285763	NM_014339.7(IL17RA):c.1370C>T (p.Ala457Val)	IL17RA (A457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285762	NM_014339.7(IL17RA):c.1436T>G (p.Phe479Cys)	IL17RA (F479C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285761	NM_014339.7(IL17RA):c.40C>A (p.Pro14Thr)	IL17RA, LOC130066894 (P14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248073	NC_000022.10:g.(?_17565982)_(18613903_?)dup	ADA2, ATP6V1E1 +11 more	Duplication	not provided	GUncertain significance
Select item 3248040	NC_000022.10:g.(?_17565982)_(17590710_?)dup	IL17RA	Duplication	Immunodeficiency 51	GUncertain significance
Select item 3242337	GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
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 3233383	NM_014339.7(IL17RA):c.1574T>C (p.Leu525Pro)	IL17RA (L491P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3109154	NM_014339.7(IL17RA):c.806C>T (p.Thr269Ile)	IL17RA (T269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3109152	NM_014339.7(IL17RA):c.2515C>G (p.Leu839Val)	IL17RA (L805V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109151	NM_014339.7(IL17RA):c.2418G>C (p.Glu806Asp)	IL17RA (E772D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3109149	NM_014339.7(IL17RA):c.2090C>A (p.Ala697Glu)	IL17RA (A663E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109148	NM_014339.7(IL17RA):c.2069C>A (p.Ala690Asp)	IL17RA (A656D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109147	NM_014339.7(IL17RA):c.2041G>A (p.Val681Met)	IL17RA (V681M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109146	NM_014339.7(IL17RA):c.1982C>T (p.Ala661Val)	IL17RA (A661V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109145	NM_014339.7(IL17RA):c.1742G>A (p.Cys581Tyr)	IL17RA (C547Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109144	NM_014339.7(IL17RA):c.1222A>T (p.Thr408Ser)	IL17RA (T374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3075957	NM_014339.7(IL17RA):c.599-1G>A	IL17RA	Single nucleotide variant (splice acceptor variant)	Chronic mucocutaneous candidiasis	GLikely pathogenic
Select item 3062457	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18590640)x3	ADA2, ATP6V1E1 +13 more	Copy number gain	not specified	GPathogenic
Select item 3062445	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17937630)x3	ADA2, CCT8L2 +6 more	Copy number gain	not specified	GUncertain significance
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 3045350	NM_014339.7(IL17RA):c.-6C>G	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	IL17RA-related disorder	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 3017480	NM_014339.7(IL17RA):c.311-7C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 3017003	NM_014339.7(IL17RA):c.598+16G>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 3010785	NM_014339.7(IL17RA):c.2343C>T (p.Pro781=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 3002996	NM_014339.7(IL17RA):c.438C>T (p.Phe146=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2998290	NM_014339.7(IL17RA):c.705del (p.Ser236fs)	IL17RA (S236fs)	Deletion (frameshift variant)	Immunodeficiency 51	GPathogenic
Select item 2992948	NM_014339.7(IL17RA):c.1875C>T (p.Arg625=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2992763	NM_014339.7(IL17RA):c.2100C>G (p.Gly700=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2985799	NM_014339.7(IL17RA):c.1704C>G (p.Arg568=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2982495	NM_014339.7(IL17RA):c.2472G>T (p.Pro824=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2969412	NM_014339.7(IL17RA):c.623C>T (p.Thr208Ile)	IL17RA (T208I)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2968226	NM_014339.7(IL17RA):c.1470dup (p.Lys491fs)	IL17RA (K457fs +1 more)	Duplication (frameshift variant)	Immunodeficiency 51	GUncertain significance
Select item 2962499	NM_014339.7(IL17RA):c.480C>T (p.Thr160=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2962448	NM_014339.7(IL17RA):c.932-20T>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2960766	NM_014339.7(IL17RA):c.1806C>T (p.Asp602=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2919931	NM_014339.7(IL17RA):c.657G>A (p.Val219=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2917928	NM_014339.7(IL17RA):c.763-14G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2914219	NM_014339.7(IL17RA):c.943+20C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2911795	NM_014339.7(IL17RA):c.1083C>T (p.Tyr361=)	IL17RA, LOC126863094	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2909430	NM_014339.7(IL17RA):c.258A>G (p.Gln86=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2905357	NM_014339.7(IL17RA):c.1088-15G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2900288	NM_014339.7(IL17RA):c.2415C>T (p.Pro805=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2896516	NM_014339.7(IL17RA):c.847-5C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2894859	NM_014339.7(IL17RA):c.2214C>T (p.Asp738=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2887797	NM_014339.7(IL17RA):c.1767C>T (p.Asn589=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2883672	NM_014339.7(IL17RA):c.1371G>A (p.Ala457=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2882411	NM_014339.7(IL17RA):c.599-18C>G	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2871605	NM_014339.7(IL17RA):c.675C>T (p.Asn225=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2867966	NM_014339.7(IL17RA):c.825G>A (p.Gly275=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2862562	NM_014339.7(IL17RA):c.2013C>T (p.Ala671=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2839725	NM_014339.7(IL17RA):c.1428G>A (p.Gly476=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2831602	NM_014339.7(IL17RA):c.732T>C (p.Ser244=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2831352	NM_014339.7(IL17RA):c.1917C>T (p.Val639=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2829276	NM_014339.7(IL17RA):c.2568G>T (p.Thr856=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2829225	NM_014339.7(IL17RA):c.1386G>A (p.Gly462=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2826705	NM_014339.7(IL17RA):c.834C>G (p.Arg278=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2825217	NM_014339.7(IL17RA):c.667C>G (p.Leu223Val)	IL17RA (L223V)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2824824	NM_014339.7(IL17RA):c.1333G>A (p.Val445Ile)	IL17RA (V411I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2820546	NM_014339.7(IL17RA):c.957G>C (p.Leu319=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
Select item 2815579	NM_014339.7(IL17RA):c.210C>G (p.Pro70=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2812658	NM_014339.7(IL17RA):c.1080A>G (p.Lys360=)	IL17RA, LOC126863094	Single nucleotide variant (synonymous 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 2807533	NM_014339.7(IL17RA):c.1345C>T (p.Arg449Cys)	IL17RA (R415C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2803972	NM_014339.7(IL17RA):c.2105C>T (p.Ala702Val)	IL17RA (A702V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2798110	NM_014339.7(IL17RA):c.1295A>G (p.Gln432Arg)	IL17RA (Q398R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GUncertain significance
Select item 2797496	NM_014339.7(IL17RA):c.2040G>A (p.Ala680=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2796909	NM_014339.7(IL17RA):c.279G>A (p.Val93=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2796561	NM_014339.7(IL17RA):c.1497C>T (p.Tyr499=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2794981	NM_014339.7(IL17RA):c.978G>C (p.Thr326=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
Select item 2794701	NM_014339.7(IL17RA):c.185G>A (p.Trp62Ter)	IL17RA (W62*)	Single nucleotide variant (nonsense)	Immunodeficiency 51	GPathogenic
Select item 2792843	NM_014339.7(IL17RA):c.847-10C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2792222	NM_014339.7(IL17RA):c.801A>G (p.Thr267=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2789595	NM_014339.7(IL17RA):c.2154C>T (p.Phe718=)	IL17RA	Single nucleotide variant (synonymous 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 2768538	NM_014339.7(IL17RA):c.2394C>T (p.Ser798=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2768209	NM_014339.7(IL17RA):c.144A>G (p.Leu48=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2759800	NM_014339.7(IL17RA):c.1986G>T (p.Pro662=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2742167	NM_014339.7(IL17RA):c.847-4G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2729904	NM_014339.7(IL17RA):c.633C>G (p.Thr211=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2725736	NM_014339.7(IL17RA):c.599-6T>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2724407	NM_014339.7(IL17RA):c.1428G>C (p.Gly476=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2722483	NM_014339.7(IL17RA):c.624C>T (p.Thr208=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2717892	NM_014339.7(IL17RA):c.931+20C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2716431	NM_014339.7(IL17RA):c.2070C>A (p.Ala690=)	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 2714594	NM_014339.7(IL17RA):c.598+15G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign

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