"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 529889	NM_012275.3(IL36RN):c.6C>T (p.Val2=)	IL36RN	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1055782	NM_012275.3(IL36RN):c.29G>A (p.Arg10Gln)	IL36RN (R10Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694287	NM_012275.3(IL36RN):c.29+3G>A	IL36RN	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 624147	NM_012275.3(IL36RN):c.115+5G>A	IL36RN	Single nucleotide variant (intron variant)	Generalized pustular psoriasis +2 more	GUncertain significance
Select item 40005	NM_012275.3(IL36RN):c.115+6T>C	IL36RN	Single nucleotide variant (intron variant)	Acrodermatitis continua suppurativa of Hallopeau +2 more	GPathogenic/Likely pathogenic
Select item 529887	NM_012275.3(IL36RN):c.140A>G (p.Asn47Ser)	IL36RN (N47S)	Single nucleotide variant (missense variant)	Acrodermatitis continua suppurativa of Hallopeau +3 more	GBenign/Likely benign
Select item 493284	NM_012275.3(IL36RN):c.169G>A (p.Val57Ile)	IL36RN (V57I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 529885	NM_012275.3(IL36RN):c.230C>T (p.Thr77Ile)	IL36RN (T77I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 728172	NM_012275.3(IL36RN):c.244-6C>T	IL36RN	Single nucleotide variant (intron variant)	Generalized pustular psoriasis +1 more	GConflicting classifications of pathogenicity
Select item 836349	NM_012275.3(IL36RN):c.244-5G>A	IL36RN	Single nucleotide variant (intron variant)	Generalized pustular psoriasis +1 more	GUncertain significance
Select item 732231	NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu)	IL36RN (P82L)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis +1 more	GConflicting classifications of pathogenicity
Select item 1694286	NM_012275.3(IL36RN):c.277A>G (p.Lys93Glu)	IL36RN (K93E)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 845061	NM_012275.3(IL36RN):c.307C>T (p.Arg103Trp)	IL36RN (R103W)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis +1 more	GUncertain significance
Select item 1366264	NM_012275.3(IL36RN):c.308G>A (p.Arg103Gln)	IL36RN (R103Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1384309	NM_012275.3(IL36RN):c.317G>C (p.Gly106Ala)	IL36RN (G106A)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis +1 more	GUncertain significance
Select item 30490	NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)	IL36RN (S113L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 330780	NM_012275.3(IL36RN):c.363G>A (p.Leu121=)	IL36RN	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 936339	NM_012275.3(IL36RN):c.369G>A (p.Thr123=)	IL36RN	Single nucleotide variant (synonymous variant)	Generalized pustular psoriasis +1 more	GConflicting classifications of pathogenicity
Select item 529888	NM_012275.3(IL36RN):c.369G>C (p.Thr123=)	IL36RN	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 1592833	NM_012275.3(IL36RN):c.381C>T (p.Ala127=)	IL36RN	Single nucleotide variant (synonymous variant)	Generalized pustular psoriasis +1 more	GConflicting classifications of pathogenicity
Select item 1057322	NM_012275.3(IL36RN):c.451T>A (p.Phe151Ile)	IL36RN (F151I)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis +1 more	GUncertain significance
Select item 1694285	NM_012275.3(IL36RN):c.*15dup	IL36RN	Duplication (3 prime UTR variant)	Autoinflammatory syndrome	GUncertain significance

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Items: 22