IFNG[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 310319	NM_000619.3(IFNG):c.*539A>G	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GBenign
Select item 310320	NM_000619.3(IFNG):c.*500C>T	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GLikely benign
Select item 881295	NM_000619.3(IFNG):c.*465A>T	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GLikely benign
Select item 881746	NM_000619.3(IFNG):c.*231T>C	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 881747	NM_000619.3(IFNG):c.*187T>G	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 310321	NM_000619.3(IFNG):c.*180C>T	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GBenign
Select item 310322	NM_000619.3(IFNG):c.*107A>G	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 111222	NM_000619.3(IFNG):c.*93TCAA[1]	IFNG	Microsatellite (3 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 881748	NM_000619.3(IFNG):c.*22T>A	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 310323	NM_000619.3(IFNG):c.*9C>T	IFNG	Single nucleotide variant (3 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 881749	NM_000619.3(IFNG):c.431C>T (p.Ser144Leu)	IFNG (S144L)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 632201	NM_000619.3(IFNG):c.431C>A (p.Ser144Ter)	IFNG (S144*)	Single nucleotide variant (nonsense)	Aplastic anemia	GUncertain significance
Select item 1331006	NM_000619.3(IFNG):c.409A>G (p.Ile137Val)	IFNG (I137V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2311108	NM_000619.3(IFNG):c.388C>T (p.Arg130Cys)	IFNG (R130C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 111227	NM_000619.3(IFNG):c.367-227G>C	IFNG	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111228	NM_000619.3(IFNG):c.367-282T>A	IFNG	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111229	NM_000619.3(IFNG):c.367-419T>C	IFNG	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111226	NM_000619.3(IFNG):c.366+360G>C	IFNG	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111225	NM_000619.3(IFNG):c.366+350A>T	IFNG	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1259250	NM_000619.3(IFNG):c.366+284G>A	IFNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 111224	NM_000619.3(IFNG):c.366+139T>C	IFNG	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 974678	NM_000619.3(IFNG):c.354_357del (p.Thr119fs)	IFNG (T119fs)	Deletion (frameshift variant)	Immunodeficiency 69	GPathogenic
Select item 2553840	NM_000619.3(IFNG):c.325A>G (p.Lys109Glu)	IFNG (K109E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 881750	NM_000619.3(IFNG):c.285C>T (p.Thr95=)	IFNG	Single nucleotide variant (synonymous variant)	Aplastic anemia	GUncertain significance
Select item 882897	NM_000619.3(IFNG):c.183+15C>G	IFNG	Single nucleotide variant (intron variant)	Aplastic anemia	GUncertain significance
Select item 1282751	NM_000619.3(IFNG):c.115-4_115-3del	IFNG	Deletion (intron variant)	not provided	GBenign
Select item 402962	NM_000619.3(IFNG):c.115-3del	IFNG	Deletion (intron variant)	not specified +2 more	GBenign
Select item 111223	NM_000619.3(IFNG):c.115-156A>G	IFNG	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 14722	NM_000619.2(IFNG):c.115-484_115-457CA[12]	IFNG	Microsatellite (intron variant)	Tsc2 angiomyolipomas, renal, modifier of +1 more	Grisk factor
Select item 14723	NM_000619.3(IFNG):c.115-485T>A	IFNG	Single nucleotide variant (intron variant)	Mycobacterium tuberculosis, protection against	Gprotective
Select item 310324	NM_000619.3(IFNG):c.114+11C>T	IFNG	Single nucleotide variant (intron variant)	Aplastic anemia	GUncertain significance
Select item 2643166	NM_000619.3(IFNG):c.81T>C (p.Tyr27=)	IFNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310325	NM_000619.3(IFNG):c.-2C>A	IFNG	Single nucleotide variant (5 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 310326	NM_000619.3(IFNG):c.-5A>G	IFNG	Single nucleotide variant (5 prime UTR variant)	Aplastic anemia +1 more	GConflicting classifications of pathogenicity
Select item 310327	NM_000619.3(IFNG):c.-9T>C	IFNG	Single nucleotide variant (5 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 310328	NM_000619.3(IFNG):c.-34T>G	IFNG	Single nucleotide variant (5 prime UTR variant)	Aplastic anemia	GUncertain significance
Select item 14724	NC_000012.12:g.68159923C>A	IFNG	Single nucleotide variant	Acquired immunodeficiency syndrome, rapid progression to	GPathogenic
Select item 14725	NM_000619.2(IFNG):c.-893C>G	IFNG	Single nucleotide variant	Hepatitis C virus infection, response to therapy of	Gdrug response
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	LYZ, MDM1 +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 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)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 50