IL11RA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 101049	NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del	GALT, IL11RA +4 more	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	LOC129662434, LOC130001682 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 1279224	NM_001142784.3(IL11RA):c.1-223GT[12]	IL11RA	Microsatellite (intron variant)	not provided	GBenign
Select item 1186856	NM_001142784.3(IL11RA):c.1-223GT[13]	IL11RA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1251083	NM_001142784.3(IL11RA):c.1-223GT[10]	IL11RA	Microsatellite (intron variant)	not provided	GBenign
Select item 1290220	NM_001142784.3(IL11RA):c.1-201_1-200insTGCG	IL11RA	Insertion (intron variant)	not provided	GBenign
Select item 493489	NM_001142784.3(IL11RA):c.3G>A (p.Met1Ile)	IL11RA (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2981621	NM_001142784.3(IL11RA):c.30G>A (p.Arg10=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2173943	NM_001142784.3(IL11RA):c.60G>A (p.Val20=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 435497	NM_001142784.3(IL11RA):c.72C>T (p.Ser24=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 3033581	NM_001142784.3(IL11RA):c.82dup (p.Gln28fs)	IL11RA (Q28fs)	Duplication (frameshift variant +1 more)	IL11RA-related disorder	GLikely pathogenic
Select item 3039737	NM_001142784.3(IL11RA):c.99A>C (p.Pro33=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	IL11RA-related disorder	GLikely benign
Select item 1179216	NM_001142784.3(IL11RA):c.100+122T>C	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402971	NM_001142784.3(IL11RA):c.128C>T (p.Ser43Phe)	IL11RA (S43F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2958491	NM_001142784.3(IL11RA):c.153G>C (p.Val51=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2051317	NM_001142784.3(IL11RA):c.159C>T (p.Ala53=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1231709	NM_001142784.3(IL11RA):c.161+72G>T	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220727	NM_001142784.3(IL11RA):c.162-257G>A	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785283	NM_001142784.3(IL11RA):c.162-8A>C	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2633279	NM_001142784.3(IL11RA):c.162-2A>T	IL11RA	Single nucleotide variant (splice acceptor variant)	IL11RA-related disorder	GLikely pathogenic
Select item 713713	NM_001142784.3(IL11RA):c.193C>A (p.Pro65Thr)	IL11RA (P65T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3017856	NM_001142784.3(IL11RA):c.201G>A (p.Leu67=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1717679	NM_001142784.3(IL11RA):c.269G>A (p.Gly90Asp)	IL11RA (G90D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578256	NM_001142784.3(IL11RA):c.281G>A (p.Cys94Tyr)	IL11RA (C94Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 981196	NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe)	IL11RA (C94F)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GLikely pathogenic
Select item 2413660	NM_001142784.3(IL11RA):c.306G>A (p.Gly102=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522708	NM_001142784.3(IL11RA):c.331+2T>C	IL11RA	Single nucleotide variant (splice donor variant)	Craniosynostosis and dental anomalies	GUncertain significance
Select item 691924	NM_001142784.3(IL11RA):c.343C>T (p.Arg115Cys)	IL11RA (R115C)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome	GUncertain significance
Select item 1310638	NM_001142784.3(IL11RA):c.344G>A (p.Arg115His)	IL11RA (R115H)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 546145	NM_001142784.3(IL11RA):c.347C>T (p.Pro116Leu)	IL11RA (P116L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116626	NM_001142784.3(IL11RA):c.365C>T (p.Ala122Val)	IL11RA (A122V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729845	NM_001142784.3(IL11RA):c.366A>G (p.Ala122=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659160	NM_001142784.3(IL11RA):c.369C>T (p.Ala123=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2044179	NM_001142784.3(IL11RA):c.400C>T (p.Pro134Ser)	IL11RA (P134S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1523641	NM_001142784.3(IL11RA):c.427C>T (p.Arg143Cys)	IL11RA (R143C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964756	NM_001142784.3(IL11RA):c.446+18T>G	IL11RA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3027115	NM_001142784.3(IL11RA):c.447-6C>T	IL11RA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 30139	NM_001142784.3(IL11RA):c.475C>T (p.Gln159Ter)	IL11RA (Q159*)	Single nucleotide variant (nonsense +1 more)	Craniosynostosis and dental anomalies	GPathogenic
Select item 1930688	NM_001142784.3(IL11RA):c.479+7C>T	IL11RA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233057	NM_001142784.3(IL11RA):c.480-28A>G	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248382	NM_001142784.3(IL11RA):c.480-23A>G	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659161	NM_001142784.3(IL11RA):c.498G>C (p.Gly166=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 435498	NM_001142784.3(IL11RA):c.532G>T (p.Ala178Ser)	IL11RA (A178S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746974	NM_001142784.3(IL11RA):c.535C>T (p.Arg179Cys)	IL11RA (R179C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2060291	NM_001142784.3(IL11RA):c.536G>A (p.Arg179His)	IL11RA (R179H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306164	NM_001142784.3(IL11RA):c.547C>T (p.His183Tyr)	IL11RA (H183Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1282361	NM_001142784.3(IL11RA):c.646+79T>C	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258912	NM_001142784.3(IL11RA):c.646+142G>C	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228988	NM_001142784.3(IL11RA):c.647-96T>A	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30137	NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg)	IL11RA (P221R)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GLikely pathogenic
Select item 731358	NM_001142784.3(IL11RA):c.692G>A (p.Gly231Asp)	IL11RA (G231D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1074686	NM_001142784.3(IL11RA):c.709C>T (p.Arg237Ter)	IL11RA (R237*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1305704	NM_001142784.3(IL11RA):c.710G>A (p.Arg237Gln)	IL11RA (R237Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931973	NM_001142784.3(IL11RA):c.718T>G (p.Trp240Gly)	IL11RA (W240G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 715735	NM_001142784.3(IL11RA):c.723A>G (p.Thr241=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 546144	NM_001142784.3(IL11RA):c.727C>A (p.Pro243Thr)	IL11RA (P243T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 30138	NM_001142784.3(IL11RA):c.734C>G (p.Ser245Cys)	IL11RA (S245C)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GPathogenic
Select item 2082588	NM_001142784.3(IL11RA):c.741G>A (p.Pro247=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 981195	NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys)	IL11RA (R261C)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GLikely pathogenic
Select item 1600861	NM_001142784.3(IL11RA):c.782G>A (p.Arg261His)	IL11RA (R261H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1915039	NM_001142784.3(IL11RA):c.809C>T (p.Thr270Met)	IL11RA (T270M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1064613	NM_001142784.3(IL11RA):c.810G>A (p.Thr270=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	Craniosynostosis and dental anomalies	GLikely pathogenic
Select item 1227859	NM_001142784.3(IL11RA):c.811-304G>T	IL11RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202160	NM_001142784.3(IL11RA):c.811-194T>C	IL11RA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022980	NM_001142784.3(IL11RA):c.811-2A>T	IL11RA	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1209504	NM_001142784.3(IL11RA):c.866A>G (p.His289Arg)	IL11RA (H289R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 30136	NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp)	IL11RA (R296W)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GPathogenic
Select item 2906409	NM_001142784.3(IL11RA):c.894T>C (p.Phe298=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 30140	NM_001142784.3(IL11RA):c.907ACCTGGAGC[3] (p.Ser308_Pro309insThrTrpSer)	IL11RA	Microsatellite (inframe_insertion +1 more)	not provided	GPathogenic
Select item 2429382	NM_001142784.3(IL11RA):c.919T>C (p.Trp307Arg)	IL11RA (W307R)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome	GPathogenic
Select item 1963092	NM_001142784.3(IL11RA):c.927G>A (p.Pro309=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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