"Human Evolutionary Genetics, Institut Pasteur"[submitter] AND "IFNGR2 - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 111256	NM_005534.4(IFNGR2):c.74-3937C>T	IFNGR2	Single nucleotide variant (intron variant +1 more)	not provided	Gnot provided
Select item 111255	NM_005534.4(IFNGR2):c.74-3672C>T	IFNGR2	Single nucleotide variant (intron variant +1 more)	not provided	Gnot provided
Select item 111236	NM_005534.4(IFNGR2):c.207-636C>T	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111235	NM_005534.4(IFNGR2):c.207-407_207-406insATT	IFNGR2	Insertion (intron variant)	not provided	Gnot provided
Select item 111234	NM_005534.4(IFNGR2):c.207-223A>G	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111233	NM_005534.4(IFNGR2):c.207-123G>T	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111232	NM_005534.4(IFNGR2):c.207-109A>G	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111237	NM_005534.4(IFNGR2):c.207-80G>A	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111238	NM_005534.4(IFNGR2):c.337C>T (p.Leu113=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 111241	NM_005534.4(IFNGR2):c.413-310A>C	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111239	NM_005534.4(IFNGR2):c.413-197T>C	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111245	NM_005534.4(IFNGR2):c.413-92T>C	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111244	NM_005534.4(IFNGR2):c.413-89AT[6]	IFNGR2	Microsatellite (intron variant)	not provided	Gnot provided
Select item 111243	NM_005534.4(IFNGR2):c.413-59A>G	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111242	NM_005534.4(IFNGR2):c.413-53_413-48del	IFNGR2	Deletion (intron variant)	not provided	Gnot provided
Select item 111240	NM_005534.4(IFNGR2):c.413-25T>C	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111246	NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu)	IFNGR2 (I156L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 111247	NM_005534.4(IFNGR2):c.510G>A (p.Thr170=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28 +1 more	GConflicting classifications of pathogenicity
Select item 111248	NM_005534.4(IFNGR2):c.528T>C (p.Tyr176=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 111249	NM_005534.4(IFNGR2):c.562-93C>T	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111250	NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)	IFNGR2 (E236D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 111252	NM_005534.4(IFNGR2):c.721+89T>C	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111251	NM_005534.4(IFNGR2):c.721+173A>C	TMEM50B, IFNGR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 111254	NM_005534.4(IFNGR2):c.722-91A>T	TMEM50B, IFNGR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 111253	NM_005534.4(IFNGR2):c.722-42C>T	TMEM50B, IFNGR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 111257	NM_005534.4(IFNGR2):c.780G>T (p.Ser260=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 111258	NM_005534.4(IFNGR2):c.880-135_880-113dup	IFNGR2, TMEM50B	Duplication (intron variant)	not provided	Gnot provided
Select item 111259	NM_005534.4(IFNGR2):c.889G>A (p.Asp297Asn)	IFNGR2, TMEM50B (D297N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 111260	NM_005534.4(IFNGR2):c.984G>A (p.Lys328=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 111231	NM_005534.4(IFNGR2):c.1008G>A (p.Thr336=)	TMEM50B, IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28 +1 more	GLikely benign
Select item 111230	NM_005534.4(IFNGR2):c.*352C>T	IFNGR2, TMEM50B	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided

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Items: 31