IL17RA[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1001

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 more	Copy number gain	See cases	GPathogenic
Select item 153998	GRCh38/hg38 22q11.1(chr22:16408173-17154559)x4	CCT8L2, CECR7 +30 more	Copy number gain	See cases	GUncertain significance
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 148255	GRCh38/hg38 22q11.1-11.21(chr22:16916608-17459881)x3	ADA2, CECR2 +45 more	Copy number gain	See cases	GLikely benign
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	LINC01664, LINC02891 +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	LOC132090637, LOC132090638 +292 more	Copy number gain	See cases	GPathogenic
Select item 150808	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3	ADA2, ATP6V1E1 +101 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
Select item 340554	NM_014339.6(IL17RA):c.-126C>G	IL17RA, LOC130066893	Single nucleotide variant	Immunodeficiency 51	GBenign
Select item 340555	NM_014339.6(IL17RA):c.-95G>C	IL17RA, LOC130066893	Single nucleotide variant	Immunodeficiency 51	GUncertain significance
Select item 340556	NM_014339.6(IL17RA):c.-94C>A	IL17RA, LOC130066893	Single nucleotide variant	Familial Candidiasis, Recessive +2 more	GBenign
Select item 340557	NM_014339.7(IL17RA):c.-50T>C	LOC130066894, IL17RA	Single nucleotide variant (5 prime UTR variant)	Familial Candidiasis, Recessive +2 more	GBenign
Select item 340558	NM_014339.7(IL17RA):c.-42G>A	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 51	GUncertain significance
Select item 340559	NM_014339.7(IL17RA):c.-39C>T	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 51	GUncertain significance
Select item 894942	NM_014339.7(IL17RA):c.-33C>G	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 51	GBenign
Select item 340560	NM_014339.7(IL17RA):c.-27C>G	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 51	GUncertain significance
Select item 896380	NM_014339.7(IL17RA):c.-23C>A	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 51	GUncertain significance
Select item 340561	NM_014339.7(IL17RA):c.-8G>C	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	Familial Candidiasis, Recessive +3 more	GBenign
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 645784	NM_014339.7(IL17RA):c.8C>T (p.Ala3Val)	IL17RA, LOC130066894 (A3V)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
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 1376430	NM_014339.7(IL17RA):c.13C>T (p.Arg5Cys)	LOC130066894, IL17RA (R5C)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2549939	NM_014339.7(IL17RA):c.17G>C (p.Ser6Thr)	IL17RA, LOC130066894 (S6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2161151	NM_014339.7(IL17RA):c.17G>A (p.Ser6Asn)	IL17RA, LOC130066894 (S6N)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1090366	NM_014339.7(IL17RA):c.18C>T (p.Ser6=)	IL17RA, LOC130066894	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 714587	NM_014339.7(IL17RA):c.19C>T (p.Pro7Ser)	IL17RA, LOC130066894 (P7S)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GConflicting classifications of pathogenicity
Select item 340562	NM_014339.7(IL17RA):c.20C>T (p.Pro7Leu)	IL17RA, LOC130066894 (P7L)	Single nucleotide variant (missense variant)	Familial Candidiasis, Recessive +2 more	GLikely benign
Select item 1348607	NM_014339.7(IL17RA):c.23C>T (p.Pro8Leu)	IL17RA, LOC130066894 (P8L)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 642975	NM_014339.7(IL17RA):c.26C>T (p.Ser9Phe)	IL17RA, LOC130066894 (S9F)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 714588	NM_014339.7(IL17RA):c.30T>A (p.Ala10=)	IL17RA, LOC130066894	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GConflicting classifications of pathogenicity
Select item 1083289	NM_014339.7(IL17RA):c.33C>A (p.Val11=)	IL17RA, LOC130066894	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 340563	NM_014339.7(IL17RA):c.36G>T (p.Pro12=)	IL17RA, LOC130066894	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GConflicting classifications of pathogenicity
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 2067261	NM_014339.7(IL17RA):c.41C>G (p.Pro14Arg)	IL17RA, LOC130066894 (P14R)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1046681	NM_014339.7(IL17RA):c.52CTGCTCCTG[1] (p.Leu21_Leu23del)	IL17RA, LOC130066894	Microsatellite (inframe_deletion)	Immunodeficiency 51	GUncertain significance
Select item 1025305	NM_014339.7(IL17RA):c.53T>C (p.Leu18Pro)	IL17RA (L18P)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1155724	NM_014339.7(IL17RA):c.54G>A (p.Leu18=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1524228	NM_014339.7(IL17RA):c.55C>T (p.Leu19Phe)	IL17RA (L19F)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 962480	NM_014339.7(IL17RA):c.56T>G (p.Leu19Arg)	IL17RA (L19R)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1582090	NM_014339.7(IL17RA):c.57C>T (p.Leu19=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1358265	NM_014339.7(IL17RA):c.64C>T (p.Leu22Phe)	IL17RA (L22F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 476367	NM_014339.7(IL17RA):c.70G>C (p.Gly24Arg)	IL17RA (G24R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2143254	NM_014339.7(IL17RA):c.72C>T (p.Gly24=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 837105	NM_014339.7(IL17RA):c.73G>C (p.Val25Leu)	IL17RA (V25L)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2420125	NM_014339.7(IL17RA):c.75G>A (p.Val25=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 648874	NM_014339.7(IL17RA):c.80C>A (p.Ala27Asp)	IL17RA (A27D)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 750206	NM_014339.7(IL17RA):c.81C>T (p.Ala27=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 2049952	NM_014339.7(IL17RA):c.83C>T (p.Pro28Leu)	IL17RA (P28L)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GUncertain significance
Select item 1149876	NM_014339.7(IL17RA):c.84G>T (p.Pro28=)	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 1146120	NM_014339.7(IL17RA):c.100C>A (p.Arg34=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1115823	NM_014339.7(IL17RA):c.105C>G (p.Leu35=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1044680	NM_014339.7(IL17RA):c.106C>G (p.Leu36Val)	IL17RA (L36V)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 3362583	NM_014339.7(IL17RA):c.112_119del (p.His38fs)	IL17RA (H38fs)	Deletion (frameshift variant)	Immunodeficiency 51	GLikely pathogenic
Select item 1158315	NM_014339.7(IL17RA):c.120G>C (p.Ala40=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 898008	NM_014339.7(IL17RA):c.121C>G (p.Leu41Val)	IL17RA (L41V)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1615272	NM_014339.7(IL17RA):c.126C>T (p.Val42=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 575944	NM_014339.7(IL17RA):c.133C>A (p.Gln45Lys)	IL17RA (Q45K)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GUncertain significance
Select item 639564	NM_014339.7(IL17RA):c.138G>A (p.Pro46=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GUncertain significance
Select item 1568173	NM_014339.7(IL17RA):c.138+8_138+9del	IL17RA	Deletion (intron variant)	Immunodeficiency 51	GLikely benign
Select item 340564	NM_014339.7(IL17RA):c.138+12C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GBenign
Select item 1553552	NM_014339.7(IL17RA):c.138+16G>A	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1528805	NM_014339.7(IL17RA):c.138+18G>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 2687982	NM_014339.7(IL17RA):c.138+87G>T	IL17RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688175	NM_014339.7(IL17RA):c.138+110T>A	IL17RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1996646	NM_014339.7(IL17RA):c.139-18A>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	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 2081419	NM_014339.7(IL17RA):c.139-13C>G	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1542387	NM_014339.7(IL17RA):c.139-6C>T	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1433754	NM_014339.7(IL17RA):c.140G>A (p.Gly47Glu)	IL17RA (G47E)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1478011	NM_014339.7(IL17RA):c.142C>A (p.Leu48Ile)	IL17RA (L48I)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2768209	NM_014339.7(IL17RA):c.144A>G (p.Leu48=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 340565	NM_014339.7(IL17RA):c.152C>T (p.Thr51Met)	IL17RA (T51M)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GConflicting classifications of pathogenicity
Select item 1112016	NM_014339.7(IL17RA):c.153G>A (p.Thr51=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1110579	NM_014339.7(IL17RA):c.153G>T (p.Thr51=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1512714	NM_014339.7(IL17RA):c.162T>C (p.Asn54=)	IL17RA	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GUncertain significance
Select item 1067524	NM_014339.7(IL17RA):c.163+2T>C	IL17RA	Single nucleotide variant (splice donor variant)	Immunodeficiency 51	GLikely pathogenic
Select item 1586165	NM_014339.7(IL17RA):c.163+19TTC[2]	IL17RA	Microsatellite (intron variant)	Immunodeficiency 51	GBenign
Select item 2192991	NM_014339.7(IL17RA):c.164-19G>C	IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 649522	NM_014339.7(IL17RA):c.166_169dup (p.Cys57fs)	IL17RA (C57fs)	Duplication (frameshift variant)	Immunodeficiency 51	GPathogenic
Select item 650832	NM_014339.7(IL17RA):c.166A>G (p.Thr56Ala)	IL17RA (T56A)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 2794701	NM_014339.7(IL17RA):c.185G>A (p.Trp62Ter)	IL17RA (W62*)	Single nucleotide variant (nonsense)	Immunodeficiency 51	GPathogenic
Select item 1386866	NM_014339.7(IL17RA):c.186G>A (p.Trp62Ter)	IL17RA (W62*)	Single nucleotide variant (nonsense)	Immunodeficiency 51	GPathogenic
Select item 372206	NM_014339.7(IL17RA):c.196C>T (p.Arg66Ter)	IL17RA (R66*)	Single nucleotide variant (nonsense)	Immunodeficiency 51	GPathogenic
Select item 340566	NM_014339.7(IL17RA):c.199A>G (p.Asn67Asp)	IL17RA (N67D)	Single nucleotide variant (missense variant)	Immunodeficiency 51 +1 more	GUncertain significance

<< First< Prev

Page of 11