ClinVar for Gene (Select 9466) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285855	NM_004843.4(IL27RA):c.878C>T (p.Ala293Val)	IL27RA (A293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285854	NM_004843.4(IL27RA):c.1358C>T (p.Thr453Ile)	IL27RA (T453I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285853	NM_004843.4(IL27RA):c.1807G>T (p.Ala603Ser)	IL27RA (A603S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285852	NM_004843.4(IL27RA):c.1348A>T (p.Thr450Ser)	IL27RA (T450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285851	NM_004843.4(IL27RA):c.1087G>C (p.Glu363Gln)	IL27RA (E363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109367	NM_004843.4(IL27RA):c.824G>A (p.Arg275His)	IL27RA (R275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109366	NM_004843.4(IL27RA):c.686C>T (p.Pro229Leu)	IL27RA (P229L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109364	NM_004843.4(IL27RA):c.655G>A (p.Glu219Lys)	IL27RA (E219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109363	NM_004843.4(IL27RA):c.358G>A (p.Val120Met)	IL27RA (V120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109362	NM_004843.4(IL27RA):c.337C>T (p.Pro113Ser)	IL27RA (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109361	NM_004843.4(IL27RA):c.326A>G (p.Lys109Arg)	IL27RA (K109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109360	NM_004843.4(IL27RA):c.23C>G (p.Pro8Arg)	IL27RA, LOC130063753 (P8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109359	NM_004843.4(IL27RA):c.1615T>A (p.Ser539Thr)	IL27RA (S539T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109358	NM_004843.4(IL27RA):c.1507A>G (p.Ile503Val)	IL27RA (I503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109357	NM_004843.4(IL27RA):c.1441C>T (p.Pro481Ser)	IL27RA (P481S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109356	NM_004843.4(IL27RA):c.1004C>T (p.Thr335Met)	IL27RA (T335M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2619876	NM_004843.4(IL27RA):c.269T>C (p.Val90Ala)	IL27RA (V90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618098	NM_004843.4(IL27RA):c.862C>G (p.Leu288Val)	IL27RA (L288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590828	NM_004843.4(IL27RA):c.1514G>A (p.Arg505Gln)	IL27RA (R505Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552726	NM_004843.4(IL27RA):c.828G>T (p.Glu276Asp)	IL27RA (E276D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550842	NM_004843.4(IL27RA):c.1352A>G (p.His451Arg)	IL27RA (H451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541375	NM_004843.4(IL27RA):c.1001G>C (p.Ser334Thr)	IL27RA (S334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535339	NM_004843.4(IL27RA):c.110G>T (p.Gly37Val)	IL27RA (G37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483131	NM_004843.4(IL27RA):c.1711A>G (p.Met571Val)	IL27RA (M571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473452	NM_004843.4(IL27RA):c.1823C>T (p.Pro608Leu)	IL27RA (P608L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461159	NM_004843.4(IL27RA):c.401G>T (p.Gly134Val)	IL27RA (G134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401515	NM_004843.4(IL27RA):c.1781C>A (p.Pro594Gln)	IL27RA (P594Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392167	NM_004843.4(IL27RA):c.1819G>A (p.Ala607Thr)	IL27RA (A607T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376618	NM_004843.4(IL27RA):c.1028C>T (p.Pro343Leu)	IL27RA (P343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364739	NM_004843.4(IL27RA):c.437A>T (p.Glu146Val)	IL27RA (E146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364738	NM_004843.4(IL27RA):c.256G>A (p.Gly86Arg)	IL27RA (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360152	NM_004843.4(IL27RA):c.1169G>A (p.Arg390Gln)	IL27RA (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336101	NM_004843.4(IL27RA):c.625C>T (p.Arg209Trp)	IL27RA (R209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331715	NM_004843.4(IL27RA):c.40C>A (p.Leu14Met)	IL27RA, LOC130063753 (L14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331613	NM_004843.4(IL27RA):c.728G>C (p.Cys243Ser)	IL27RA (C243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329871	NM_004843.4(IL27RA):c.76C>G (p.Leu26Val)	IL27RA, LOC130063754 (L26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312944	NM_004843.4(IL27RA):c.907G>A (p.Ala303Thr)	IL27RA (A303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306160	NM_004843.4(IL27RA):c.1514G>C (p.Arg505Pro)	IL27RA (R505P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295665	NM_004843.4(IL27RA):c.1342C>T (p.His448Tyr)	IL27RA (H448Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295041	NM_004843.4(IL27RA):c.1540A>G (p.Arg514Gly)	IL27RA (R514G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284875	NM_004843.4(IL27RA):c.289C>T (p.Leu97Phe)	IL27RA (L97F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284874	NM_004843.4(IL27RA):c.288G>C (p.Gln96His)	IL27RA (Q96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278735	NM_004843.4(IL27RA):c.1037G>C (p.Gly346Ala)	IL27RA (G346A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260029	NM_004843.4(IL27RA):c.968C>G (p.Pro323Arg)	IL27RA (P323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248821	NM_004843.4(IL27RA):c.1762G>A (p.Val588Met)	IL27RA (V588M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225653	NM_004843.4(IL27RA):c.142G>A (p.Gly48Ser)	IL27RA (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222947	NM_004843.4(IL27RA):c.369A>C (p.Glu123Asp)	IL27RA (E123D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207959	NM_004843.4(IL27RA):c.17G>C (p.Gly6Ala)	IL27RA, LOC130063753 (G6A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1701355	NM_004843.4(IL27RA):c.342C>G (p.Leu114=)	IL27RA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 799189	NM_004843.4(IL27RA):c.1205C>T (p.Ala402Val)	IL27RA (A402V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 789906	NM_004843.4(IL27RA):c.1042C>T (p.Pro348Ser)	IL27RA (P348S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787482	NM_004843.4(IL27RA):c.1155C>T (p.Val385=)	IL27RA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782791	NM_004843.4(IL27RA):c.542C>T (p.Pro181Leu)	IL27RA (P181L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782323	NM_004843.4(IL27RA):c.952+9C>G	IL27RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 739034	NM_004843.4(IL27RA):c.573T>G (p.Val191=)	IL27RA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728553	NM_004843.4(IL27RA):c.1671A>G (p.Lys557=)	IL27RA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394234	GRCh37/hg19 19p13.12(chr19:14139111-14150649)x3	IL27RA, RLN3	Copy number gain	See cases	Gconflicting data from submitters
Select item 393953	GRCh37/hg19 19p13.12(chr19:14139111-14162382)x3	IL27RA, RLN3	Copy number gain	See cases	Gconflicting data from submitters
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 74