"GeneDx"[submitter] AND "IL10RA"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 284995	NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys)	IL10RA (Y57C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1126309	NM_001558.4(IL10RA):c.301C>A (p.Arg101=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 2505627	NM_001558.4(IL10RA):c.419T>G (p.Leu140Arg)	IL10RA (L140R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 302548	NM_001558.4(IL10RA):c.670A>G (p.Ile224Val)	IL10RA (I224V)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GBenign
Select item 470623	NM_001558.4(IL10RA):c.698T>G (p.Val233Gly)	IL10RA (V233G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 252589	NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)	IL10RA (R261W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 538051	NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu)	IL10RA (P295L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 302554	NM_001558.4(IL10RA):c.1051A>G (p.Arg351Gly)	IL10RA (R351G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +2 more	GBenign
Select item 538053	NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn)	IL10RA (D358N)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 538054	NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln)	IL10RA (R412Q)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 302556	NM_001558.4(IL10RA):c.1259C>T (p.Ser420Leu)	IL10RA (S420L)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GBenign/Likely benign
Select item 3343753	NM_001558.4(IL10RA):c.1649G>A (p.Cys550Tyr)	IL10RA (C550Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic