IL31RA[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 3044376	NM_139017.7(IL31RA):c.33G>C (p.Thr11=)	IL31RA	Single nucleotide variant (synonymous variant +1 more)	IL31RA-related disorder	GLikely benign
Select item 790791	NM_139017.7(IL31RA):c.54G>A (p.Pro18=)	IL31RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1049958	NM_139017.7(IL31RA):c.59A>G (p.Asn20Ser)	IL31RA (N20S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655465	NM_139017.7(IL31RA):c.63+1922C>T	IL31RA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3109384	NM_139017.7(IL31RA):c.115C>G (p.Leu39Val)	IL31RA (L39V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1300053	NM_139017.7(IL31RA):c.129C>T (p.Pro43=)	IL31RA	Single nucleotide variant (synonymous variant +1 more)	Amyloidosis, primary localized cutaneous, 2 +1 more	GBenign
Select item 785123	NM_139017.7(IL31RA):c.131C>T (p.Ser44Leu)	IL31RA (S25L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3109392	NM_139017.7(IL31RA):c.236A>G (p.Glu79Gly)	IL31RA (E60G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056087	NM_139017.7(IL31RA):c.307A>G (p.Asn103Asp)	IL31RA (N103D +1 more)	Single nucleotide variant (missense variant +1 more)	IL31RA-related disorder	GBenign
Select item 2293593	NM_139017.7(IL31RA):c.401A>T (p.Asn134Ile)	IL31RA (N134I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374427	NM_139017.7(IL31RA):c.427A>G (p.Met143Val)	IL31RA (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720667	NM_139017.7(IL31RA):c.432A>G (p.Thr144=)	IL31RA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2485128	NM_139017.7(IL31RA):c.547C>T (p.Pro183Ser)	IL31RA (P164S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379478	NM_139017.7(IL31RA):c.574C>T (p.Leu192Phe)	IL31RA (L192F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285871	NM_139017.7(IL31RA):c.590T>A (p.Val197Asp)	IL31RA (V178D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053875	NM_139017.7(IL31RA):c.606+10G>T	IL31RA	Single nucleotide variant (intron variant)	IL31RA-related disorder	GLikely benign
Select item 1300054	NM_139017.7(IL31RA):c.606+29A>T	IL31RA	Single nucleotide variant (intron variant)	Amyloidosis, primary localized cutaneous, 2 +1 more	GBenign
Select item 3285870	NM_139017.7(IL31RA):c.662C>T (p.Thr221Met)	IL31RA (T79M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 711419	NM_139017.7(IL31RA):c.708G>A (p.Ala236=)	IL31RA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735802	NM_139017.7(IL31RA):c.709G>A (p.Val237Ile)	IL31RA (V237I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2550636	NM_139017.7(IL31RA):c.735C>A (p.Asp245Glu)	IL31RA (D103E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285872	NM_139017.7(IL31RA):c.752T>C (p.Met251Thr)	IL31RA (M232T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785124	NM_139017.7(IL31RA):c.773-9T>C	IL31RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3046483	NM_139017.7(IL31RA):c.804G>A (p.Leu268=)	IL31RA	Single nucleotide variant (synonymous variant)	IL31RA-related disorder	GLikely benign
Select item 3109393	NM_139017.7(IL31RA):c.818C>A (p.Ala273Glu)	IL31RA (A254E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521757	NM_139017.7(IL31RA):c.818C>T (p.Ala273Val)	IL31RA (A254V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2655466	NM_139017.7(IL31RA):c.819G>A (p.Ala273=)	IL31RA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303342	NM_139017.7(IL31RA):c.830G>A (p.Arg277Lys)	IL31RA (R277K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285873	NM_139017.7(IL31RA):c.971A>G (p.His324Arg)	IL31RA (H182R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267394	NM_139017.7(IL31RA):c.1074T>G (p.Phe358Leu)	IL31RA (F216L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337328	NM_139017.7(IL31RA):c.1156A>T (p.Thr386Ser)	IL31RA (T386S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109385	NM_139017.7(IL31RA):c.1161G>C (p.Trp387Cys)	IL31RA (W387C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235982	NM_139017.7(IL31RA):c.1174T>C (p.Phe392Leu)	IL31RA (F250L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366951	NM_139017.7(IL31RA):c.1232C>T (p.Thr411Met)	IL31RA (T269M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756421	NM_139017.7(IL31RA):c.1233G>C (p.Thr411=)	IL31RA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2378759	NM_139017.7(IL31RA):c.1327T>A (p.Ser443Thr)	IL31RA (S443T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235778	NM_139017.7(IL31RA):c.1401G>T (p.Lys467Asn)	IL31RA (K467N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109386	NM_139017.7(IL31RA):c.1417T>G (p.Trp473Gly)	IL31RA (W454G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098854	NM_139017.7(IL31RA):c.1449T>G (p.Gly483=)	IL31RA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3035433	NM_139017.7(IL31RA):c.1501+79C>T	IL31RA (A527V)	Single nucleotide variant (missense variant +1 more)	IL31RA-related disorder	GBenign
Select item 2596406	NM_139017.7(IL31RA):c.1553G>A (p.Arg518Gln)	IL31RA (R499Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30790	NM_139017.7(IL31RA):c.1562C>T (p.Ser521Phe)	IL31RA (S521F +2 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 2	GPathogenic
Select item 3060128	NM_139017.7(IL31RA):c.1586G>A (p.Ser529Asn)	IL31RA (S387N +2 more)	Single nucleotide variant (missense variant)	IL31RA-related disorder	GBenign
Select item 3109387	NM_139017.7(IL31RA):c.1601G>A (p.Gly534Glu)	IL31RA (G515E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222907	NM_139017.7(IL31RA):c.1693A>C (p.Ile565Leu)	IL31RA (I423L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608829	NM_139017.7(IL31RA):c.1743G>T (p.Leu581Phe)	IL31RA (L562F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037234	NM_139017.7(IL31RA):c.1764C>T (p.Thr588=)	IL31RA	Single nucleotide variant (synonymous variant)	IL31RA-related disorder	GBenign
Select item 1300055	NM_139017.7(IL31RA):c.1819-26T>G	IL31RA	Single nucleotide variant (intron variant)	Amyloidosis, primary localized cutaneous, 2 +1 more	GBenign
Select item 2249667	NM_139017.7(IL31RA):c.1939G>A (p.Val647Ile)	IL31RA (V505I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253101	NM_139017.7(IL31RA):c.1940T>C (p.Val647Ala)	IL31RA (V647A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714253	NM_139017.7(IL31RA):c.1948G>A (p.Glu650Lys)	IL31RA (E508K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3056541	NM_139017.7(IL31RA):c.2014G>C (p.Val672Leu)	IL31RA (V530L +2 more)	Single nucleotide variant (missense variant +1 more)	IL31RA-related disorder	GBenign
Select item 3341634	NM_139017.7(IL31RA):c.2022C>T (p.Cys674=)	IL31RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3109388	NM_139017.7(IL31RA):c.2053A>G (p.Ser685Gly)	IL31RA (S666G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488955	NM_139017.7(IL31RA):c.2107C>A (p.Leu703Ile)	IL31RA (L561I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588306	NM_139017.7(IL31RA):c.2110C>T (p.Arg704Cys)	IL31RA (R685C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109390	NM_139017.7(IL31RA):c.2114C>T (p.Ser705Leu)	IL31RA (S705L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109389	NM_139017.7(IL31RA):c.2114C>G (p.Ser705Trp)	IL31RA (S705W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109391	NM_139017.7(IL31RA):c.2134C>T (p.Arg712Cys)	IL31RA (R570C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2549780	NM_139017.7(IL31RA):c.2135G>A (p.Arg712His)	IL31RA (R570H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509555	NM_139017.7(IL31RA):c.2143G>A (p.Ala715Thr)	IL31RA (A573T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619350	NM_139017.7(IL31RA):c.2158C>T (p.Leu720Phe)	IL31RA (L701F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245275	NM_139017.7(IL31RA):c.2269C>T (p.Pro757Ser)	IL31RA (P615S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 1809389	GRCh37/hg19 5q11.2(chr5:55063434-55686587)x3	ANKRD55, DDX4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686769	GRCh37/hg19 5q11.2(chr5:54527018-55436536)x3	ANKRD55, CCNO +7 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 77