Related gene-specific medical variations for Gene (Select 3559) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2782847	NM_000417.3(IL2RA):c.30G>A (p.Leu10=)	IL2RA, LOC128462384 +1 more	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2765164	NM_000417.3(IL2RA):c.64+10T>G	IL2RA, LOC130003232	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1965847	NM_000417.3(IL2RA):c.1A>T (p.Met1Leu)	IL2RA, LOC128462384 (M1L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1922101	NM_000417.3(IL2RA):c.10T>C (p.Tyr4His)	IL2RA, LOC128462384 (Y4H)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1678328	NM_000417.3(IL2RA):c.38T>A (p.Phe13Tyr)	IL2RA, LOC130003232 (F13Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484258	NM_000417.3(IL2RA):c.21G>A (p.Met7Ile)	IL2RA, LOC128462384 (M7I)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1375710	NM_000417.3(IL2RA):c.40A>G (p.Ile14Val)	IL2RA, LOC130003232 (I14V)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1358813	NM_000417.3(IL2RA):c.45G>A (p.Met15Ile)	IL2RA, LOC130003232 (M15I)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1337208	NM_000417.3(IL2RA):c.64+8C>T	IL2RA, LOC130003232	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 955560	NM_000417.3(IL2RA):c.4G>T (p.Asp2Tyr)	IL2RA, LOC128462384 (D2Y)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 880406	NM_000417.3(IL2RA):c.-68G>T	IL2RA, LOC128462384	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 880405	NM_000417.3(IL2RA):c.-26C>T	IL2RA, LOC128462384	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 300262	NM_000417.3(IL2RA):c.-211C>G	IL2RA, LOC128462384	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 14670	NC_000010.11:g.6080046T>A	IL2RA	Single nucleotide variant	IL2RA-related disorder +1 more	GLikely benign; protective
Select item 14669	NC_000010.11:g.6072697C>A	IL2RA	Single nucleotide variant	IL2RA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 14668	NM_000417.3(IL2RA):c.62_64+1del	IL2RA, LOC130003232	Microsatellite (splice donor variant)	Immunodeficiency due to CD25 deficiency	GPathogenic