ClinVar for MedGen (Select 934770) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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)	IL17RA-related condition +1 more	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
Select item 2708950	NM_014339.7(IL17RA):c.2261C>A (p.Ser754Ter)	IL17RA (S720* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 51	GUncertain significance
Select item 2707647	NM_014339.7(IL17RA):c.1866C>A (p.Pro622=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	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 2697438	NM_014339.7(IL17RA):c.847-3C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GUncertain significance
Select item 2695238	NM_014339.7(IL17RA):c.1087+15G>T	IL17RA, LOC126863094	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2671780	NM_014339.7(IL17RA):c.805_808del (p.Thr269fs)	IL17RA (T269fs)	Microsatellite (frameshift variant)	Immunodeficiency 51	GLikely pathogenic
Select item 2432842	NM_014339.7(IL17RA):c.1324A>G (p.Lys442Glu)	IL17RA (K408E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2427928	NM_014339.7(IL17RA):c.1758A>G (p.Glu586=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Immunodeficiency 51 +1 more	GPathogenic
Select item 2420976	NM_014339.7(IL17RA):c.1410C>T (p.Asp470=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2420125	NM_014339.7(IL17RA):c.75G>A (p.Val25=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2418658	NM_014339.7(IL17RA):c.598+14C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2201998	NM_014339.7(IL17RA):c.944-13C>G	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2201190	NM_014339.7(IL17RA):c.1799C>G (p.Ser600Cys)	IL17RA (S600C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2198702	NM_014339.7(IL17RA):c.1707C>T (p.Ala569=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2197699	NM_014339.7(IL17RA):c.943+9G>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2193089	NM_014339.7(IL17RA):c.1047G>A (p.Gly349=)	IL17RA, LOC126863094	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2192991	NM_014339.7(IL17RA):c.164-19G>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2192769	NM_014339.7(IL17RA):c.765C>T (p.Pro255=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GBenign
Select item 2192738	NM_014339.7(IL17RA):c.551-15T>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2186994	NM_014339.7(IL17RA):c.2011G>A (p.Ala671Thr)	IL17RA (A637T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2185780	NM_014339.7(IL17RA):c.1983G>A (p.Ala661=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2184245	NM_014339.7(IL17RA):c.1772A>C (p.Tyr591Ser)	IL17RA (Y557S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2183698	NM_014339.7(IL17RA):c.1697A>G (p.Gln566Arg)	IL17RA (Q566R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2182559	NM_014339.7(IL17RA):c.1005C>T (p.Ser335=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
Select item 2177842	NM_014339.7(IL17RA):c.9C>A (p.Ala3=)	IL17RA, LOC130066894	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2175266	NM_014339.7(IL17RA):c.2296G>C (p.Gly766Arg)	IL17RA (G732R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2174514	NM_014339.7(IL17RA):c.1346G>A (p.Arg449His)	IL17RA (R415H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2173615	NM_014339.7(IL17RA):c.297A>G (p.Thr99=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2171726	NM_014339.7(IL17RA):c.1739G>A (p.Arg580His)	IL17RA (R580H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2169533	NM_014339.7(IL17RA):c.944-5C>G	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2169147	NM_014339.7(IL17RA):c.276C>T (p.Pro92=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2167134	NM_014339.7(IL17RA):c.2380C>G (p.Gln794Glu)	IL17RA (Q794E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2162046	NM_014339.7(IL17RA):c.2152T>G (p.Phe718Val)	IL17RA (F684V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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