Related gene-specific medical variations for Gene (Select 3454) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248178	NC_000021.8:g.(?_34720267)_(34721595_?)del	IFNAR1	Deletion	not provided	GLikely pathogenic
Select item 3065852	NM_000629.3(IFNAR1):c.1672T>C (p.Ter558Arg)	IFNAR1	Single nucleotide variant (stop lost +2 more)	Immunodeficiency 106, susceptibility to viral infections	GUncertain significance
Select item 3065116	NM_000629.3(IFNAR1):c.2205_2213del	IFNAR1	Deletion (3 prime UTR variant +2 more)	Immunodeficiency 106, susceptibility to viral infections	GUncertain significance
Select item 3064420	NM_000629.3(IFNAR1):c.1671_*1821del (p.Ter558AlaextTer?)	IFNAR1	Deletion (frameshift variant +2 more)	Immunodeficiency 106, susceptibility to viral infections	GUncertain significance
Select item 2985054	NM_000629.3(IFNAR1):c.18G>A (p.Leu6=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2870907	NM_000629.3(IFNAR1):c.76+10G>A	IFNAR1, LOC119230225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802682	NM_000629.3(IFNAR1):c.15C>A (p.Leu5=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2742719	NM_000629.3(IFNAR1):c.72C>T (p.Ala24=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2700396	NM_000629.3(IFNAR1):c.64T>G (p.Ser22Ala)	IFNAR1, LOC119230225 (S22A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2431416	NC_000021.9:g.(33336874_33344911)del	IFNAR1	Deletion	Immunodeficiency 106, susceptibility to viral infections	GPathogenic
Select item 2193122	NM_000629.3(IFNAR1):c.69A>G (p.Ala23=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2128848	NM_000629.3(IFNAR1):c.10G>A (p.Val4Ile)	LOC119230225, IFNAR1 (V4I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2100522	NM_000629.3(IFNAR1):c.76+9C>A	IFNAR1, LOC119230225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050663	NM_000629.3(IFNAR1):c.27del (p.Thr10fs)	IFNAR1, LOC119230225 (T10fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2021058	NM_000629.3(IFNAR1):c.50C>T (p.Ala17Val)	IFNAR1, LOC119230225 (A17V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2011494	NM_000629.3(IFNAR1):c.24G>A (p.Ala8=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1979265	NM_000629.3(IFNAR1):c.21C>T (p.Gly7=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1917845	NM_000629.3(IFNAR1):c.14T>G (p.Leu5Arg)	IFNAR1, LOC119230225 (L5R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1632806	NM_000629.3(IFNAR1):c.16C>T (p.Leu6=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1614318	NM_000629.3(IFNAR1):c.76+7G>A	IFNAR1, LOC119230225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590102	NM_000629.3(IFNAR1):c.36G>C (p.Val12=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1497945	NM_000629.3(IFNAR1):c.17T>C (p.Leu6Pro)	IFNAR1, LOC119230225 (L6P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1494355	NM_000629.3(IFNAR1):c.46G>A (p.Val16Met)	IFNAR1, LOC119230225 (V16M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1431666	NM_000629.3(IFNAR1):c.31C>G (p.Leu11Val)	IFNAR1, LOC119230225 (L11V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1420808	NM_000629.3(IFNAR1):c.65CCGCAG[1] (p.Ala24_Ala25del)	IFNAR1, LOC119230225	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1410801	NM_000629.3(IFNAR1):c.28A>G (p.Thr10Ala)	IFNAR1, LOC119230225 (T10A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1354650	NM_000629.3(IFNAR1):c.55T>G (p.Trp19Gly)	IFNAR1, LOC119230225 (W19G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1130060	NM_000629.3(IFNAR1):c.36G>A (p.Val12=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 872804	NM_000629.3(IFNAR1):c.830G>A (p.Trp277Ter)	IFNAR1 (W277*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 29