Related gene-specific medical variations for Gene (Select 23765) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362583	NM_014339.7(IL17RA):c.112_119del (p.His38fs)	IL17RA (H38fs)	Deletion (frameshift variant)	Immunodeficiency 51	GLikely pathogenic
Select item 3362564	NM_014339.7(IL17RA):c.721del (p.Glu241fs)	IL17RA (E241fs)	Deletion (frameshift variant)	Immunodeficiency 51	GLikely pathogenic
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 3248040	NC_000022.10:g.(?_17565982)_(17590710_?)dup	IL17RA	Duplication	Immunodeficiency 51	GUncertain significance
Select item 3233383	NM_014339.7(IL17RA):c.1574T>C (p.Leu525Pro)	IL17RA (L491P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
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 2911795	NM_014339.7(IL17RA):c.1083C>T (p.Tyr361=)	IL17RA, LOC126863094	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
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 2812658	NM_014339.7(IL17RA):c.1080A>G (p.Lys360=)	IL17RA, LOC126863094	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 2695238	NM_014339.7(IL17RA):c.1087+15G>T	IL17RA, LOC126863094	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
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 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 2201998	NM_014339.7(IL17RA):c.944-13C>G	IL17RA, LOC129391259	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 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 2169533	NM_014339.7(IL17RA):c.944-5C>G	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
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 2070679	NM_014339.7(IL17RA):c.990C>T (p.Ile330=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
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 2066396	NM_014339.7(IL17RA):c.944-19G>A	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1964994	NM_014339.7(IL17RA):c.1020C>A (p.Ile340=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
Select item 1690877	NM_014339.7(IL17RA):c.944-12T>C	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1667914	NM_014339.7(IL17RA):c.1045+10G>A	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1660537	NM_014339.7(IL17RA):c.1087+14G>A	IL17RA, LOC126863094	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1605514	NM_014339.7(IL17RA):c.1046-4C>T	IL17RA, LOC126863094	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1587827	NM_014339.7(IL17RA):c.1045+12G>A	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1574293	NM_014339.7(IL17RA):c.944-16G>A	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GBenign
Select item 1570627	NM_014339.7(IL17RA):c.993G>A (p.Leu331=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
Select item 1565860	NM_014339.7(IL17RA):c.1032C>G (p.Thr344=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
Select item 1559955	NM_014339.7(IL17RA):c.944-19G>C	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1551282	NM_014339.7(IL17RA):c.944-4G>A	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1524855	NM_014339.7(IL17RA):c.944-6C>A	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GUncertain significance
Select item 1430106	NM_014339.7(IL17RA):c.949A>G (p.Met317Val)	IL17RA, LOC129391259 (M317V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1386233	NM_014339.7(IL17RA):c.995T>C (p.Leu332Pro)	IL17RA, LOC129391259 (L332P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 51	GUncertain significance
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 1367994	NM_014339.7(IL17RA):c.1085C>T (p.Thr362Ile)	IL17RA, LOC126863094 (T362I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1361832	NM_014339.7(IL17RA):c.1038G>C (p.Arg346Ser)	IL17RA, LOC129391259 (R346S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 51	GUncertain significance
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 1347711	NM_014339.7(IL17RA):c.1067G>A (p.Ser356Asn)	IL17RA, LOC126863094 (S356N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 1167821	NM_014339.7(IL17RA):c.1046-10dup	IL17RA, LOC126863094	Duplication (intron variant)	Immunodeficiency 51	GBenign
Select item 1151477	NM_014339.7(IL17RA):c.978G>T (p.Thr326=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
Select item 1114841	NM_014339.7(IL17RA):c.1046-11T>C	IL17RA, LOC126863094	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 1112665	NM_014339.7(IL17RA):c.955C>T (p.Leu319=)	LOC129391259, IL17RA	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GLikely benign
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 1083289	NM_014339.7(IL17RA):c.33C>A (p.Val11=)	IL17RA, LOC130066894	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GLikely benign
Select item 1011215	NM_014339.7(IL17RA):c.1006G>A (p.Val336Ile)	IL17RA, LOC129391259 (V336I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 51	GUncertain significance
Select item 1006539	NM_014339.7(IL17RA):c.996_997delinsCT (p.Val333Leu)	IL17RA, LOC129391259 (V333L)	Indel (missense variant +1 more)	Immunodeficiency 51	GUncertain significance
Select item 958284	NM_014339.7(IL17RA):c.1021G>A (p.Val341Ile)	IL17RA, LOC129391259 (V341I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 51	GUncertain significance
Select item 899193	NM_014339.7(IL17RA):c.1086C>T (p.Thr362=)	IL17RA, LOC126863094	Single nucleotide variant (synonymous 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 894942	NM_014339.7(IL17RA):c.-33C>G	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 51	GBenign
Select item 856747	NM_014339.7(IL17RA):c.1030A>G (p.Thr344Ala)	IL17RA, LOC129391259 (T344A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 51	GUncertain significance
Select item 840918	NM_014339.7(IL17RA):c.952C>T (p.Pro318Ser)	IL17RA, LOC129391259 (P318S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 51	GUncertain significance
Select item 839324	NM_014339.7(IL17RA):c.960G>T (p.Trp320Cys)	IL17RA, LOC129391259 (W320C)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 51	GUncertain significance
Select item 743762	NM_014339.7(IL17RA):c.944-5C>T	LOC129391259, IL17RA	Single nucleotide variant (intron variant)	Immunodeficiency 51	GLikely benign
Select item 726432	NM_014339.7(IL17RA):c.1087+9T>C	IL17RA, LOC126863094	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720214	NM_014339.7(IL17RA):c.978G>A (p.Thr326=)	IL17RA, LOC129391259	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 51	GConflicting classifications of pathogenicity
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 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 657886	NM_014339.7(IL17RA):c.1087G>A (p.Asp363Asn)	IL17RA, LOC126863094 (D329N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
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 642975	NM_014339.7(IL17RA):c.26C>T (p.Ser9Phe)	IL17RA, LOC130066894 (S9F)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 577037	NM_014339.7(IL17RA):c.1081T>C (p.Tyr361His)	IL17RA, LOC126863094 (Y361H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GUncertain significance
Select item 573226	NM_014339.7(IL17RA):c.1086C>A (p.Thr362=)	IL17RA, LOC126863094	Single nucleotide variant (synonymous variant)	Immunodeficiency 51	GUncertain significance
Select item 340590	NM_014339.7(IL17RA):c.1046G>C (p.Gly349Ala)	IL17RA, LOC126863094 (G349A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 51	GConflicting classifications of pathogenicity
Select item 340589	NM_014339.7(IL17RA):c.1045+7G>A	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GConflicting classifications of pathogenicity
Select item 340588	NM_014339.7(IL17RA):c.1045+6C>T	IL17RA, LOC129391259	Single nucleotide variant (intron variant)	Immunodeficiency 51	GConflicting classifications of pathogenicity
Select item 340587	NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg)	IL17RA, LOC129391259 (W320R)	Single nucleotide variant (missense variant +1 more)	Familial Candidiasis, Recessive +1 more	GConflicting classifications of pathogenicity
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 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 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 340560	NM_014339.7(IL17RA):c.-27C>G	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 340558	NM_014339.7(IL17RA):c.-42G>A	IL17RA, LOC130066894	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 51	GUncertain significance
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

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Items: 77