ClinVar for Gene (Select 50616) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109311	NM_020525.5(IL22):c.255G>A (p.Met85Ile)	IL22 (M85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109310	NM_020525.5(IL22):c.248T>C (p.Val83Ala)	IL22 (V83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109309	NM_020525.5(IL22):c.147G>T (p.Gln49His)	IL22 (Q49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2607293	NM_020525.5(IL22):c.530C>T (p.Ala177Val)	IL22 (A177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598514	NM_020525.5(IL22):c.95C>A (p.Ala32Glu)	IL22 (A32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462927	NM_020525.5(IL22):c.25A>C (p.Ser9Arg)	IL22 (S9R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2372541	NM_020525.5(IL22):c.460A>G (p.Lys154Glu)	IL22 (K154E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306585	NM_020525.5(IL22):c.355G>A (p.Val119Met)	IL22 (V119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283564	NM_020525.5(IL22):c.358C>T (p.Pro120Ser)	IL22 (P120S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242010	NM_020525.5(IL22):c.262C>T (p.Arg88Cys)	IL22 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233064	NM_020525.5(IL22):c.374T>A (p.Leu125His)	IL22 (L125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205205	NM_020525.5(IL22):c.487G>A (p.Ala163Thr)	IL22 (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340548	GRCh37/hg19 12q15(chr12:68537457-68698086)x3	IFNG, IL22 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 709289	NM_020525.5(IL22):c.472A>G (p.Ser158Gly)	IL22 (S158G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563911	GRCh37/hg19 12q15(chr12:68537456-68698086)x3	IFNG, IL22 +2 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +164 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 26