IL1RAPL1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368180	NM_014271.4(IL1RAPL1):c.-405T>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 368181	NM_014271.4(IL1RAPL1):c.-402G>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 368182	NM_014271.4(IL1RAPL1):c.-302dup	IL1RAPL1	Duplication (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368184	NM_014271.4(IL1RAPL1):c.-303_-302del	IL1RAPL1	Deletion (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368183	NM_014271.4(IL1RAPL1):c.-302del	IL1RAPL1	Deletion (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GBenign
Select item 368185	NM_014271.4(IL1RAPL1):c.-82C>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 368186	NM_014271.4(IL1RAPL1):c.-39G>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 21	GBenign
Select item 912343	NM_014271.4(IL1RAPL1):c.-25+14A>C	IL1RAPL1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 21	GBenign
Select item 2429011	NM_014271.4(IL1RAPL1):c.-25+31A>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 58611	GRCh38/hg38 Xp21.3(chrX:28759823-29094411)x2	IL1RAPL1	Copy number gain	See cases	GPathogenic
Select item 155606	GRCh38/hg38 Xp21.3(chrX:28773665-28885326)x3	IL1RAPL1	Copy number gain	See cases	GLikely benign
Select item 1236336	NM_014271.4(IL1RAPL1):c.-24-92G>A	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368187	NM_014271.4(IL1RAPL1):c.-20C>T	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 281021	NM_014271.4(IL1RAPL1):c.-19G>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 2056458	NM_014271.4(IL1RAPL1):c.11C>T (p.Pro4Leu)	IL1RAPL1 (P4L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 368188	NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2075870	NM_014271.4(IL1RAPL1):c.21C>T (p.His7=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2848853	NM_014271.4(IL1RAPL1):c.25A>G (p.Ile9Val)	IL1RAPL1 (I9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 368189	NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3067362	NM_014271.4(IL1RAPL1):c.59A>G (p.Lys20Arg)	IL1RAPL1 (K20R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 872758	NM_014271.4(IL1RAPL1):c.61G>T (p.Val21Phe)	IL1RAPL1 (V21F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432844	NM_014271.4(IL1RAPL1):c.82G>A (p.Ala28Thr)	IL1RAPL1 (A28T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1237882	NM_014271.4(IL1RAPL1):c.82+206A>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283349	NM_014271.4(IL1RAPL1):c.82+227T>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224200	NM_014271.4(IL1RAPL1):c.82+234A>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 148983	GRCh38/hg38 Xp21.3(chrX:28794135-28818044)x0	IL1RAPL1	Copy number loss	See cases	GUncertain significance
Select item 3024177	NC_000023.11:g.(?_28852188)_(28855815_?)del	IL1RAPL1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 1294759	NM_014271.4(IL1RAPL1):c.82+63544C>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321729	NM_014271.4(IL1RAPL1):c.82+63697C>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300566	NM_014271.4(IL1RAPL1):c.82+63712del	IL1RAPL1	Deletion (intron variant)	not provided	GBenign
Select item 1281427	NM_014271.4(IL1RAPL1):c.82+63782A>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247435	NM_014271.4(IL1RAPL1):c.82+63801A>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343902	NM_014271.4(IL1RAPL1):c.82+88594T>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342811	NM_014271.4(IL1RAPL1):c.82+113554C>T	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676916	NM_014271.4(IL1RAPL1):c.82+113555G>A	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342812	NM_014271.4(IL1RAPL1):c.82+113725T>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242224	NM_014271.4(IL1RAPL1):c.82+138468A>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200033	NM_014271.4(IL1RAPL1):c.83-100T>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 368190	NM_014271.4(IL1RAPL1):c.83-8dup	IL1RAPL1	Duplication (intron variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368191	NM_014271.4(IL1RAPL1):c.83-6C>T	IL1RAPL1	Single nucleotide variant (intron variant)	IL1RAPL1-related disorder +2 more	GBenign/Likely benign
Select item 740095	NM_014271.4(IL1RAPL1):c.83-5G>A	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934211	NM_014271.4(IL1RAPL1):c.84C>T (p.Ala28=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 21 +1 more	GConflicting classifications of pathogenicity
Select item 2660220	NM_014271.4(IL1RAPL1):c.87T>C (p.Asp29=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2155402	NM_014271.4(IL1RAPL1):c.96T>C (p.Thr32=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741263	NM_014271.4(IL1RAPL1):c.108C>T (p.Ile36=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 432804	NM_014271.4(IL1RAPL1):c.136G>A (p.Gly46Arg)	IL1RAPL1 (G46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404112	NM_014271.4(IL1RAPL1):c.148C>G (p.Arg50Gly)	IL1RAPL1 (R50G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334575	NM_014271.4(IL1RAPL1):c.148C>T (p.Arg50Ter)	IL1RAPL1 (R50*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 21	GLikely pathogenic
Select item 368192	NM_014271.4(IL1RAPL1):c.206G>A (p.Ser69Asn)	IL1RAPL1 (S69N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 2190667	NM_014271.4(IL1RAPL1):c.233A>G (p.Lys78Arg)	IL1RAPL1 (K78R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2181194	NM_014271.4(IL1RAPL1):c.261G>C (p.Glu87Asp)	IL1RAPL1 (E87D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1988472	NM_014271.4(IL1RAPL1):c.276C>T (p.Asp92=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572242	NM_014271.4(IL1RAPL1):c.279A>G (p.Gly93=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2725517	NM_014271.4(IL1RAPL1):c.307A>G (p.Ile103Val)	IL1RAPL1 (I103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2593828	NM_014271.4(IL1RAPL1):c.317G>A (p.Arg106Gln)	IL1RAPL1 (R106Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2153395	NM_014271.4(IL1RAPL1):c.348C>T (p.Tyr116=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1676150	NM_014271.4(IL1RAPL1):c.349G>A (p.Ala117Thr)	IL1RAPL1 (A117T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696453	NM_014271.4(IL1RAPL1):c.363-41213G>A	IL1RAPL1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 1181597	NM_014271.4(IL1RAPL1):c.363-236A>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989953	NM_014271.4(IL1RAPL1):c.363-12G>T	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2572320	NM_014271.4(IL1RAPL1):c.366_379delinsGTAACAAAG (p.Asn122_Met127delinsLysTer)	IL1RAPL1	Indel (nonsense)	Intellectual disability, X-linked 21	GLikely pathogenic
Select item 1879757	NM_014271.4(IL1RAPL1):c.375C>G (p.Tyr125Ter)	IL1RAPL1 (Y125*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2446640	NM_014271.4(IL1RAPL1):c.376T>C (p.Cys126Arg)	IL1RAPL1 (C126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 913474	NM_014271.4(IL1RAPL1):c.408T>C (p.Gly136=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 21 +1 more	GConflicting classifications of pathogenicity
Select item 1189836	NM_014271.4(IL1RAPL1):c.415G>A (p.Asp139Asn)	IL1RAPL1 (D139N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 620022	NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val)	IL1RAPL1 (L142V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21 +1 more	GUncertain significance
Select item 1740465	NM_014271.4(IL1RAPL1):c.441G>A (p.Lys147=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1341849	NM_014271.4(IL1RAPL1):c.448T>G (p.Tyr150Asp)	IL1RAPL1 (Y150D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 2478685	NM_014271.4(IL1RAPL1):c.497A>G (p.Asp166Gly)	IL1RAPL1 (D166G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2954830	NM_014271.4(IL1RAPL1):c.513A>G (p.Leu171=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 432465	NM_014271.4(IL1RAPL1):c.523A>G (p.Arg175Gly)	IL1RAPL1 (R175G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294575	NM_014271.4(IL1RAPL1):c.549+8C>T	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2742015	NM_014271.4(IL1RAPL1):c.549+11C>T	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251751	NM_014271.4(IL1RAPL1):c.549+50T>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193985	NM_014271.4(IL1RAPL1):c.549+184A>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891375	NM_014271.4(IL1RAPL1):c.550-19T>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889938	NM_014271.4(IL1RAPL1):c.550-14T>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 913475	NM_014271.4(IL1RAPL1):c.550-4A>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2497799	NM_014271.4(IL1RAPL1):c.555C>A (p.Cys185Ter)	IL1RAPL1 (C185*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3017055	NM_014271.4(IL1RAPL1):c.556A>C (p.Arg186=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2281774	NM_014271.4(IL1RAPL1):c.582T>G (p.Ile194Met)	IL1RAPL1 (I194M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1954220	NM_014271.4(IL1RAPL1):c.595G>C (p.Asp199His)	IL1RAPL1 (D199H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301052	NM_014271.4(IL1RAPL1):c.613G>C (p.Glu205Gln)	IL1RAPL1 (E205Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917001	NM_014271.4(IL1RAPL1):c.620G>A (p.Arg207Lys)	IL1RAPL1 (R207K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421811	NM_014271.4(IL1RAPL1):c.621AGA[1] (p.Glu208del)	IL1RAPL1 (E208del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 3016675	NM_014271.4(IL1RAPL1):c.631A>C (p.Ile211Leu)	IL1RAPL1 (I211L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374770	NM_014271.4(IL1RAPL1):c.641A>T (p.Tyr214Phe)	IL1RAPL1 (Y214F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 493510	NM_014271.4(IL1RAPL1):c.651A>C (p.Glu217Asp)	IL1RAPL1 (E217D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2306030	NM_014271.4(IL1RAPL1):c.658T>C (p.Tyr220His)	IL1RAPL1 (Y220H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692901	NM_014271.4(IL1RAPL1):c.695C>T (p.Thr232Ile)	IL1RAPL1 (T232I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981355	NM_014271.4(IL1RAPL1):c.697_698del (p.Val233fs)	IL1RAPL1 (V233fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 280601	NM_014271.4(IL1RAPL1):c.703+1G>A	IL1RAPL1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1216208	NM_014271.4(IL1RAPL1):c.703+65G>A	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248003	NM_014271.4(IL1RAPL1):c.703+85C>A	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272558	NM_014271.4(IL1RAPL1):c.703+310G>A	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021633	NM_014271.4(IL1RAPL1):c.704-4T>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660221	NM_014271.4(IL1RAPL1):c.705C>T (p.Ala235=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3109255	NM_014271.4(IL1RAPL1):c.709C>G (p.Leu237Val)	IL1RAPL1 (L237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 368193	NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 21 +1 more	GBenign
Select item 1334713	NM_014271.4(IL1RAPL1):c.730C>T (p.Leu244Phe)	IL1RAPL1 (L244F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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