"GeneDx"[submitter] AND "IL17RD"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220948	NM_017563.5(IL17RD):c.2108-111del	IL17RD	Deletion (intron variant)	not provided	GBenign
Select item 1221966	NM_017563.5(IL17RD):c.2108-126G>A	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216835	NM_017563.5(IL17RD):c.2108-128G>A	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262167	NM_017563.5(IL17RD):c.2107+95T>G	IL17RD, LOC126806689	Single nucleotide variant (intron variant)	not provided	GBenign
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 677804	NM_017563.5(IL17RD):c.1972A>G (p.Met658Val)	IL17RD, LOC126806689 (M658V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely 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 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 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 787793	NM_017563.5(IL17RD):c.1697C>T (p.Pro566Leu)	IL17RD, LOC126806689 (P422L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 786501	NM_017563.5(IL17RD):c.1584C>G (p.Gly528=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 712436	NM_017563.5(IL17RD):c.1545C>T (p.Asp515=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1224839	NM_017563.5(IL17RD):c.1531T>C (p.Leu511=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 18 with or without anosmia +1 more	GBenign
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 1188630	NM_017563.5(IL17RD):c.1164+231_1164+238del	IL17RD	Deletion (intron variant)	not provided	GLikely benign
Select item 1198737	NM_017563.5(IL17RD):c.1164+74_1164+76del	IL17RD	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1708709	NM_017563.5(IL17RD):c.1061C>A (p.Pro354Gln)	IL17RD (P210Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193559	NM_017563.5(IL17RD):c.980-69T>C	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259624	NM_017563.5(IL17RD):c.980-127G>C	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208423	NM_017563.5(IL17RD):c.980-270C>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197266	NM_017563.5(IL17RD):c.979+201C>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262347	NM_017563.5(IL17RD):c.901G>A (p.Val301Met)	IL17RD (V157M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731960	NM_017563.5(IL17RD):c.893T>C (p.Ile298Thr)	IL17RD (I298T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 449250	NM_017563.5(IL17RD):c.889C>G (p.Pro297Ala)	IL17RD (P297A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738811	NM_017563.5(IL17RD):c.878C>T (p.Pro293Leu)	IL17RD (P149L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1196964	NM_017563.5(IL17RD):c.869-135A>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195699	NM_017563.5(IL17RD):c.869-196A>G	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292703	NM_017563.5(IL17RD):c.868+29T>C	IL17RD	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 18 with or without anosmia +1 more	GBenign
Select item 1232540	NM_017563.5(IL17RD):c.814-60del	IL17RD	Deletion (intron variant)	not provided	GBenign
Select item 1222550	NM_017563.5(IL17RD):c.814-288G>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292702	NM_017563.5(IL17RD):c.813+142A>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183074	NM_017563.5(IL17RD):c.764C>T (p.Thr255Met)	IL17RD (T111M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1257378	NM_017563.5(IL17RD):c.747+52C>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305375	NM_017563.5(IL17RD):c.715G>A (p.Glu239Lys)	IL17RD (E239K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1243386	NM_017563.5(IL17RD):c.660T>C (p.His220=)	IL17RD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1197137	NM_017563.5(IL17RD):c.596-49G>C	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255055	NM_017563.5(IL17RD):c.595+30C>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213588	NM_017563.5(IL17RD):c.551-14del	IL17RD	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1211956	NM_017563.5(IL17RD):c.551-261C>G	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278083	NM_017563.5(IL17RD):c.551-266C>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178669	NM_017563.5(IL17RD):c.550+189A>G	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1708010	NM_017563.5(IL17RD):c.547C>T (p.Arg183Ter)	IL17RD (R183* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1297420	NM_017563.5(IL17RD):c.430-165C>G	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234363	NM_017563.5(IL17RD):c.430-257G>A	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270902	NM_017563.5(IL17RD):c.429+262A>G	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226032	NM_017563.5(IL17RD):c.429+226T>C	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297421	NM_017563.5(IL17RD):c.429+193G>A	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225634	NM_017563.5(IL17RD):c.429+158del	IL17RD	Deletion (intron variant)	not provided	GBenign
Select item 50867	NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)	IL17RD (K131T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1208812	NM_017563.5(IL17RD):c.311-317T>C	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222059	NM_017563.5(IL17RD):c.311-331A>G	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218536	NM_017563.5(IL17RD):c.185-13dup	IL17RD	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 1237048	NM_017563.5(IL17RD):c.185-123G>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198286	NM_017563.5(IL17RD):c.184+264T>C	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189738	NM_017563.5(IL17RD):c.184+100G>T	IL17RD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273845	NM_017563.5(IL17RD):c.126+51A>G	IL17RD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239753	NM_017563.5(IL17RD):c.126+46G>A	IL17RD	Single nucleotide variant (intron variant)	not provided	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 1708850	NM_017563.4(IL17RD):c.-95_-87GCCGCCGCG[3]	IL17RD, LOC129936924	Microsatellite (intron variant)	not provided	GLikely benign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic
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

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Items: 63