ClinVar for Gene (Select 54756) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368882	NM_017563.5(IL17RD):c.1860C>G (p.His620Gln)	IL17RD, LOC126806689 (H476Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363744	NM_017563.5(IL17RD):c.1433T>G (p.Val478Gly)	IL17RD, LOC126806689 (V334G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359887	NM_017563.5(IL17RD):c.1382T>C (p.Leu461Pro)	IL17RD (L317P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357031	NM_017563.5(IL17RD):c.1886A>G (p.Gln629Arg)	IL17RD, LOC126806689 (Q485R +1 more)	Single nucleotide variant (missense variant)	IL17RD-related disorder	GUncertain significance
Select item 3356960	NM_017563.5(IL17RD):c.769A>G (p.Ser257Gly)	IL17RD (S113G +1 more)	Single nucleotide variant (missense variant)	IL17RD-related disorder	GUncertain significance
Select item 3350627	NM_017563.5(IL17RD):c.1806C>T (p.Cys602=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	IL17RD-related disorder	GLikely benign
Select item 3339133	NM_017563.5(IL17RD):c.64C>G (p.Gln22Glu)	IL17RD, LOC129936924 (Q22E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339132	NM_017563.5(IL17RD):c.929T>C (p.Ile310Thr)	IL17RD (I166T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285778	NM_017563.5(IL17RD):c.1523G>C (p.Cys508Ser)	IL17RD, LOC126806689 (C508S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285777	NM_017563.5(IL17RD):c.1072G>A (p.Val358Ile)	IL17RD (V358I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285776	NM_017563.5(IL17RD):c.683G>A (p.Arg228His)	IL17RD (R228H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285775	NM_017563.5(IL17RD):c.1904C>T (p.Pro635Leu)	IL17RD, LOC126806689 (P635L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242533	NM_017563.5(IL17RD):c.1992C>G (p.Ile664Met)	IL17RD, LOC126806689 (I520M +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 18 with or without anosmia	GLikely benign
Select item 3233566	NM_017563.5(IL17RD):c.807A>G (p.Ile269Met)	IL17RD (I125M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109180	NM_017563.5(IL17RD):c.62C>T (p.Ser21Leu)	IL17RD, LOC129936924 (S21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109178	NM_017563.5(IL17RD):c.521A>G (p.Asn174Ser)	IL17RD (N30S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109177	NM_017563.5(IL17RD):c.398C>T (p.Pro133Leu)	IL17RD (P133L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109176	NM_017563.5(IL17RD):c.359C>T (p.Ser120Leu)	IL17RD (S120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109174	NM_017563.5(IL17RD):c.209T>G (p.Val70Gly)	IL17RD (V70G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109173	NM_017563.5(IL17RD):c.2033T>A (p.Leu678Gln)	IL17RD, LOC126806689 (L534Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109172	NM_017563.5(IL17RD):c.1630G>A (p.Val544Ile)	IL17RD, LOC126806689 (V544I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109170	NM_017563.5(IL17RD):c.1526C>T (p.Ser509Phe)	IL17RD, LOC126806689 (S509F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109169	NM_017563.5(IL17RD):c.1132G>A (p.Ala378Thr)	IL17RD (A234T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109168	NM_017563.5(IL17RD):c.1039C>T (p.Leu347Phe)	IL17RD (L203F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062735	GRCh37/hg19 3p14.3(chr3:57186580-57384870)x1	APPL1, ASB14 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3058117	NM_017563.5(IL17RD):c.159G>A (p.Leu53=)	IL17RD	Single nucleotide variant (synonymous variant +1 more)	IL17RD-related disorder	GLikely benign
Select item 3054167	NM_017563.5(IL17RD):c.1986A>G (p.Ser662=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	IL17RD-related disorder	GLikely benign
Select item 3053638	NM_017563.5(IL17RD):c.548G>A (p.Arg183Gln)	IL17RD (R183Q +1 more)	Single nucleotide variant (missense variant)	IL17RD-related disorder	GUncertain significance
Select item 3043465	NM_017563.5(IL17RD):c.1968G>T (p.Ser656=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	IL17RD-related disorder	GLikely benign
Select item 3042330	NM_017563.5(IL17RD):c.1548C>T (p.His516=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	IL17RD-related disorder	GLikely benign
Select item 3041790	NM_017563.5(IL17RD):c.558C>T (p.Asp186=)	IL17RD	Single nucleotide variant (synonymous variant)	IL17RD-related disorder	GLikely benign
Select item 3016968	NM_017563.5(IL17RD):c.1333G>A (p.Gly445Arg)	IL17RD, LOC126806689 (G301R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006807	NM_017563.5(IL17RD):c.1722C>G (p.Tyr574Ter)	IL17RD, LOC126806689 (Y430* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3005910	NM_017563.5(IL17RD):c.2091C>T (p.Ser697=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992112	NM_017563.5(IL17RD):c.1296G>A (p.Lys432=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985203	NM_017563.5(IL17RD):c.1569G>C (p.Gln523His)	IL17RD, LOC126806689 (Q523H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2985202	NM_017563.5(IL17RD):c.2203_2211del (p.Ala735_Ala737del)	IL17RD	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2961043	NM_017563.5(IL17RD):c.2078C>T (p.Thr693Met)	IL17RD, LOC126806689 (T693M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902543	NM_017563.5(IL17RD):c.964C>T (p.Arg322Cys)	IL17RD (R178C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900458	NM_017563.5(IL17RD):c.629A>G (p.His210Arg)	IL17RD (H66R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2889005	NM_017563.5(IL17RD):c.2209G>A (p.Ala737Thr)	IL17RD (A593T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885328	NM_017563.5(IL17RD):c.337G>A (p.Val113Ile)	IL17RD (V113I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870486	NM_017563.5(IL17RD):c.471G>A (p.Thr157=)	IL17RD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772475	NM_017563.5(IL17RD):c.1051_1052del (p.Arg351fs)	IL17RD (R207fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2754185	NM_017563.5(IL17RD):c.814-3C>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2747473	NM_017563.5(IL17RD):c.168C>A (p.Ile56=)	IL17RD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685080	GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1	APPL1, ARHGEF3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2615630	NM_017563.5(IL17RD):c.1662C>A (p.Asp554Glu)	IL17RD, LOC126806689 (D554E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615227	NM_017563.5(IL17RD):c.374G>A (p.Cys125Tyr)	IL17RD (C125Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607164	NM_017563.5(IL17RD):c.1638T>G (p.Ile546Met)	IL17RD, LOC126806689 (I402M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606358	NM_017563.5(IL17RD):c.431G>T (p.Gly144Val)	IL17RD (G144V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601295	NM_017563.5(IL17RD):c.70G>T (p.Ala24Ser)	IL17RD, LOC129936924 (A24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570500	NM_017563.5(IL17RD):c.1538C>T (p.Ser513Phe)	IL17RD, LOC126806689 (S513F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542082	NM_017563.5(IL17RD):c.1724G>A (p.Arg575Gln)	IL17RD, LOC126806689 (R575Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515110	NM_017563.5(IL17RD):c.943A>T (p.Thr315Ser)	IL17RD (T171S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2509425	NM_017563.5(IL17RD):c.56A>G (p.Asn19Ser)	IL17RD, LOC129936924 (N19S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2489888	NM_017563.5(IL17RD):c.886G>A (p.Gly296Arg)	IL17RD (G152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474014	NM_017563.5(IL17RD):c.410A>G (p.Asn137Ser)	IL17RD (N137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472924	NM_017563.5(IL17RD):c.2112G>C (p.Glu704Asp)	IL17RD (E560D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467056	NM_017563.5(IL17RD):c.50G>T (p.Cys17Phe)	IL17RD, LOC129936924 (C17F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465773	NM_017563.5(IL17RD):c.41T>C (p.Val14Ala)	IL17RD, LOC129936924 (V14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443147	NM_017563.5(IL17RD):c.714C>T (p.His238=)	IL17RD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2424783	NC_000003.11:g.(?_57130421)_(57303715_?)dup	APPL1, ASB14 +2 more	Duplication	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES +1 more	GUncertain significance
Select item 2423438	NC_000003.11:g.(?_57130421)_(58520833_?)del	ABHD6, ACOX2 +15 more	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2421852	NM_017563.5(IL17RD):c.1319G>T (p.Gly440Val)	IL17RD, LOC126806689 (G296V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421588	NM_017563.5(IL17RD):c.1058G>A (p.Arg353Gln)	IL17RD (R209Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410100	NM_017563.5(IL17RD):c.665C>T (p.Pro222Leu)	IL17RD (P78L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409795	NM_017563.5(IL17RD):c.755C>T (p.Thr252Ile)	IL17RD (T108I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401998	NM_017563.5(IL17RD):c.435G>A (p.Met145Ile)	IL17RD (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380282	NM_017563.5(IL17RD):c.2048C>T (p.Ser683Leu)	IL17RD, LOC126806689 (S683L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379531	NM_017563.5(IL17RD):c.2138A>G (p.Lys713Arg)	IL17RD (K569R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2370394	NM_017563.5(IL17RD):c.1705C>T (p.Pro569Ser)	IL17RD, LOC126806689 (P425S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359936	NM_017563.5(IL17RD):c.275T>G (p.Val92Gly)	IL17RD (V92G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356504	NM_017563.5(IL17RD):c.1262T>C (p.Val421Ala)	IL17RD (V277A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356448	NM_017563.5(IL17RD):c.1064G>A (p.Arg355Gln)	IL17RD (R211Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337385	NM_017563.5(IL17RD):c.1837A>G (p.Thr613Ala)	IL17RD, LOC126806689 (T613A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334213	NM_017563.5(IL17RD):c.946C>G (p.Leu316Val)	IL17RD (L172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314457	NM_017563.5(IL17RD):c.769A>C (p.Ser257Arg)	IL17RD (S257R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314219	NM_017563.5(IL17RD):c.1622C>T (p.Ser541Phe)	IL17RD, LOC126806689 (S397F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292372	NM_017563.5(IL17RD):c.209T>C (p.Val70Ala)	IL17RD (V70A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290638	NM_017563.5(IL17RD):c.1529A>C (p.His510Pro)	IL17RD, LOC126806689 (H366P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284934	NM_017563.5(IL17RD):c.2019G>T (p.Glu673Asp)	IL17RD, LOC126806689 (E673D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249787	NM_017563.5(IL17RD):c.833C>T (p.Thr278Ile)	IL17RD (T134I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214001	NM_017563.5(IL17RD):c.1186G>A (p.Asp396Asn)	IL17RD (D396N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212849	NM_017563.5(IL17RD):c.2017G>A (p.Glu673Lys)	IL17RD, LOC126806689 (E529K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2176999	NM_017563.5(IL17RD):c.470C>T (p.Thr157Met)	IL17RD (T157M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175948	NM_017563.5(IL17RD):c.1514C>T (p.Pro505Leu)	IL17RD, LOC126806689 (P505L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082487	NM_017563.5(IL17RD):c.635C>T (p.Ser212Leu)	IL17RD (S212L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063168	NM_017563.5(IL17RD):c.226G>A (p.Ala76Thr)	IL17RD (A76T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2023091	NM_017563.5(IL17RD):c.1202G>A (p.Arg401Lys)	IL17RD (R257K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990461	NM_017563.5(IL17RD):c.31T>G (p.Phe11Val)	IL17RD, LOC129936924 (F11V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1987430	NM_017563.5(IL17RD):c.33C>G (p.Phe11Leu)	IL17RD, LOC129936924 (F11L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1978805	NM_017563.5(IL17RD):c.930A>T (p.Ile310=)	IL17RD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959580	NM_017563.5(IL17RD):c.1978C>T (p.Arg660Trp)	LOC126806689, IL17RD (R660W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940790	NM_017563.5(IL17RD):c.306C>A (p.Ala102=)	IL17RD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1926120	NM_017563.5(IL17RD):c.68T>G (p.Leu23Arg)	IL17RD, LOC129936924 (L23R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1911873	NM_017563.5(IL17RD):c.1606A>G (p.Ser536Gly)	IL17RD, LOC126806689 (S392G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1903211	NM_017563.5(IL17RD):c.184+11G>A	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899322	NM_017563.5(IL17RD):c.185-17T>C	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign

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