ClinVar for MedGen (Select 1790509) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580998	NM_014271.4:c.(?_704)_(778_?)dup	IL1RAPL1	Duplication	Intellectual disability, X-linked 21	GUncertain significance
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 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 2432843	NM_014271.4(IL1RAPL1):c.1195G>A (p.Asp399Asn)	IL1RAPL1 (D399N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21	GUncertain significance
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 1696453	NM_014271.4(IL1RAPL1):c.363-41213G>A	IL1RAPL1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 21	GUncertain significance
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 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 1333973	NM_014271.4(IL1RAPL1):c.1882T>C (p.Tyr628His)	IL1RAPL1 (Y628H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 1321320	NM_014271.4(IL1RAPL1):c.1227dup (p.Ser410fs)	IL1RAPL1 (S410fs)	Duplication (frameshift variant)	Intellectual disability, X-linked 21	GLikely pathogenic
Select item 1320221	NM_014271.4(IL1RAPL1):c.1075del (p.Glu359fs)	IL1RAPL1 (E359fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 21	GLikely pathogenic
Select item 1184394	NC_000023.11:g.29892903_29905635del	IL1RAPL1	Deletion	Intellectual disability, X-linked 21	GUncertain significance
Select item 1174094	NM_014271.4(IL1RAPL1):c.1891_1897del (p.Asp631fs)	IL1RAPL1 (D631fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 21	GLikely pathogenic
Select item 983009	NM_014271.4(IL1RAPL1):c.2071A>G (p.Ile691Val)	IL1RAPL1 (I691V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 976354	NM_014271.4(IL1RAPL1):c.1891G>A (p.Asp631Asn)	IL1RAPL1 (D631N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 913855	NM_014271.4(IL1RAPL1):c.1602G>A (p.Leu534=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 21 +1 more	GConflicting classifications of pathogenicity
Select item 913854	NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 913853	NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg)	IL1RAPL1 (K379R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 913476	NM_014271.4(IL1RAPL1):c.779G>A (p.Gly260Asp)	IL1RAPL1 (G260D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 913475	NM_014271.4(IL1RAPL1):c.550-4A>G	IL1RAPL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 912343	NM_014271.4(IL1RAPL1):c.-25+14A>C	IL1RAPL1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 21	GBenign
Select item 813316	GRCh37/hg19 Xp21.2(chrX:29686547-29686621)	IL1RAPL1	Copy number loss	Intellectual disability, X-linked 21	GPathogenic
Select item 803783	NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser)	IL1RAPL1 (T637S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21 +2 more	GConflicting classifications of pathogenicity
Select item 620223	NM_014271.4(IL1RAPL1):c.1054C>T (p.Arg352Ter)	IL1RAPL1 (R352*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 21 +1 more	GPathogenic
Select item 620044	NM_014271.4(IL1RAPL1):c.1191_1201+6del	IL1RAPL1	Deletion (splice donor variant)	Intellectual disability, X-linked 21	GPathogenic
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 592169	t(X;19)(p21.2;q13.41)dn	IL1RAPL1, ZNF611	Translocation	not specified	GUncertain significance
Select item 368198	NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu)	IL1RAPL1 (I564L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 368197	NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 368196	NM_014271.4(IL1RAPL1):c.1368T>A (p.Thr456=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 368195	NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 21 +2 more	GBenign/Likely benign
Select item 368194	NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 21 +1 more	GBenign/Likely benign
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 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 368191	NM_014271.4(IL1RAPL1):c.83-6C>T	IL1RAPL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 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 368187	NM_014271.4(IL1RAPL1):c.-20C>T	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 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 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 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 281021	NM_014271.4(IL1RAPL1):c.-19G>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 211182	NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 29944	NG_008292.1:g.700375-?_1335033+?del	IL1RAPL1	Deletion	Intellectual disability, X-linked 21	GPathogenic
Select item 11482	NG_008292.2:g.(?_707879)_(1040749_?)del	IL1RAPL1	Deletion	Intellectual disability, X-linked 21	GPathogenic
Select item 11481	NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter)	IL1RAPL1 (W487*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 21	GLikely pathogenic
Select item 11480	NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter)	IL1RAPL1 (Y459*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 21	GPathogenic

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Items: 49