Related gene-specific medical variations for Gene (Select 54756) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3054167	NM_017563.5(IL17RD):c.1986A>G (p.Ser662=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	IL17RD-related disorder	GLikely benign
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 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)	LOC126806689, IL17RD (Q523H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 2509425	NM_017563.5(IL17RD):c.56A>G (p.Asn19Ser)	IL17RD, LOC129936924 (N19S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 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 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 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 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 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 2175948	NM_017563.5(IL17RD):c.1514C>T (p.Pro505Leu)	LOC126806689, IL17RD (P505L +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 specified +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 1959580	NM_017563.5(IL17RD):c.1978C>T (p.Arg660Trp)	IL17RD, LOC126806689 (R660W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 provided +1 more	GUncertain significance
Select item 1898202	NM_017563.5(IL17RD):c.1618C>T (p.Arg540Trp)	IL17RD, LOC126806689 (R396W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708850	NM_017563.4(IL17RD):c.-95_-87GCCGCCGCG[3]	IL17RD, LOC129936924	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1676256	NM_017563.5(IL17RD):c.1371T>G (p.Ile457Met)	IL17RD, LOC126806689 (I313M +1 more)	Single nucleotide variant (missense variant)	Hypogonadism	GUncertain significance
Select item 1534064	NM_017563.5(IL17RD):c.30C>T (p.Val10=)	IL17RD, LOC129936924	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1507691	NM_017563.5(IL17RD):c.1508A>G (p.Asn503Ser)	IL17RD, LOC126806689 (N359S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442770	NM_017563.5(IL17RD):c.2009C>T (p.Pro670Leu)	IL17RD, LOC126806689 (P526L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1441366	NM_017563.5(IL17RD):c.1924G>A (p.Ala642Thr)	IL17RD, LOC126806689 (A498T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432607	NM_017563.5(IL17RD):c.1946C>T (p.Thr649Met)	IL17RD, LOC126806689 (T505M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337476	NM_017563.5(IL17RD):c.1688A>G (p.Gln563Arg)	LOC126806689, IL17RD (Q419R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1304904	NM_017563.5(IL17RD):c.1570C>G (p.His524Asp)	IL17RD, LOC126806689 (H380D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262167	NM_017563.5(IL17RD):c.2107+95T>G	IL17RD, LOC126806689	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225547	NM_017563.5(IL17RD):c.1696C>T (p.Pro566Ser)	IL17RD, LOC126806689 (P422S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1224839	NM_017563.5(IL17RD):c.1531T>C (p.Leu511=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1221967	NM_017563.5(IL17RD):c.-36G>T	IL17RD, LOC129936924	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1185772	NM_017563.5(IL17RD):c.1840G>A (p.Gly614Arg)	IL17RD, LOC126806689 (G470R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029472	NM_017563.5(IL17RD):c.1373C>G (p.Ala458Gly)	IL17RD, LOC126806689 (A458G +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 18 with or without anosmia +2 more	GUncertain significance
Select item 787793	NM_017563.5(IL17RD):c.1697C>T (p.Pro566Leu)	IL17RD, LOC126806689 (P422L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 786501	NM_017563.5(IL17RD):c.1584C>G (p.Gly528=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 760875	NM_017563.5(IL17RD):c.1671C>G (p.Pro557=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754570	NM_017563.5(IL17RD):c.1716G>A (p.Leu572=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750932	NM_017563.5(IL17RD):c.1416C>T (p.Leu472=)	LOC126806689, IL17RD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745541	NM_017563.5(IL17RD):c.1698C>T (p.Pro566=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735117	NM_017563.5(IL17RD):c.1351C>T (p.Leu451=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731215	NM_017563.5(IL17RD):c.1656T>C (p.Phe552=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	IL17RD-related disorder +1 more	GBenign/Likely benign
Select item 725455	NM_017563.5(IL17RD):c.2012C>T (p.Ser671Leu)	IL17RD, LOC126806689 (S527L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723666	NM_017563.5(IL17RD):c.1383C>T (p.Leu461=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 718248	NM_017563.5(IL17RD):c.2074C>T (p.Leu692=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712460	NM_017563.5(IL17RD):c.1924G>C (p.Ala642Pro)	IL17RD, LOC126806689 (A642P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 712436	NM_017563.5(IL17RD):c.1545C>T (p.Asp515=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	IL17RD-related disorder +1 more	GBenign/Likely benign
Select item 677804	NM_017563.5(IL17RD):c.1972A>G (p.Met658Val)	IL17RD, LOC126806689 (M658V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 50871	NM_017563.5(IL17RD):c.1730C>A (p.Pro577Gln)	IL17RD, LOC126806689 (P577Q +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 18 with anosmia	GPathogenic
Select item 50870	NM_017563.5(IL17RD):c.1403C>T (p.Ser468Leu)	IL17RD, LOC126806689 (S468L +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 18 with anosmia	GPathogenic

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Items: 70