ClinVar for MedGen (Select 581114) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579641	NM_012275.3(IL36RN):c.338C>A (p.Ser113Ter)	IL36RN (S113*)	Single nucleotide variant (nonsense)	Acrodermatitis continua suppurativa of Hallopeau	GLikely pathogenic
Select item 1058368	NM_012275.3(IL36RN):c.266A>G (p.Tyr89Cys)	IL36RN (Y89C)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis +1 more	GUncertain significance
Select item 632327	NM_012275.3(IL36RN):c.-28+1G>A	IL36RN	Single nucleotide variant (intron variant +1 more)	Generalized pustular psoriasis +1 more	GUncertain significance
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 330792	NM_012275.3(IL36RN):c.*560C>G	IL36RN	Single nucleotide variant (3 prime UTR variant)	Acrodermatitis continua suppurativa of Hallopeau +2 more	GConflicting classifications of pathogenicity
Select item 330790	NM_012275.3(IL36RN):c.*418A>G	IL36RN	Single nucleotide variant (3 prime UTR variant)	Acrodermatitis continua suppurativa of Hallopeau +2 more	GConflicting classifications of pathogenicity
Select item 330789	NM_012275.3(IL36RN):c.*401A>T	IL36RN	Single nucleotide variant (3 prime UTR variant)	Acrodermatitis continua suppurativa of Hallopeau +2 more	GConflicting classifications of pathogenicity
Select item 330787	NM_012275.3(IL36RN):c.*326C>A	IL36RN	Single nucleotide variant (3 prime UTR variant)	Acrodermatitis continua suppurativa of Hallopeau +2 more	GConflicting classifications of pathogenicity
Select item 330784	NM_012275.3(IL36RN):c.*276A>G	IL36RN	Single nucleotide variant (3 prime UTR variant)	Acrodermatitis continua suppurativa of Hallopeau +2 more	GConflicting classifications of pathogenicity
Select item 330783	NM_012275.3(IL36RN):c.*222T>C	IL36RN	Single nucleotide variant (3 prime UTR variant)	Acrodermatitis continua suppurativa of Hallopeau +2 more	GConflicting classifications of pathogenicity
Select item 160374	NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp)	IL36RN (R102W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 160373	NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg)	IL36RN (K35R)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis	GUncertain significance
Select item 40007	NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter)	IL36RN (R10*)	Single nucleotide variant (nonsense)	Generalized pustular psoriasis	GUncertain significance
Select item 40006	NM_012275.3(IL36RN):c.368C>G (p.Thr123Arg)	IL36RN (T123R)	Single nucleotide variant (missense variant)	Acrodermatitis continua suppurativa of Hallopeau	GPathogenic
Select item 40005	NM_012275.3(IL36RN):c.115+6T>C	IL36RN	Single nucleotide variant (intron variant)	Generalized pustular psoriasis +3 more	GPathogenic/Likely pathogenic
Select item 30491	NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp)	IL36RN (R48W)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis	GUncertain significance
Select item 30490	NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)	IL36RN (S113L)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis +4 more	GConflicting classifications of pathogenicity
Select item 30489	NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro)	IL36RN (L27P)	Single nucleotide variant (missense variant)	Generalized pustular psoriasis +1 more	GPathogenic