Related gene-specific medical variations for Gene (Select 3459) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440869	NM_000416.3(IFNGR1):c.585T>A (p.Cys195Ter)	IFNGR1 (C154* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 980791	GRCh37/hg19 6q23.3(chr6:137517088-137606046)x1	IFNGR1	Copy number loss	not provided	GUncertain significance
Select item 111220	NM_000416.3(IFNGR1):c.861+42T>G	IFNGR1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111219	NM_000416.3(IFNGR1):c.86-76C>T	IFNGR1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111218	NM_000416.3(IFNGR1):c.85+18A>C	IFNGR1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111217	NM_000416.3(IFNGR1):c.734-343C>A	IFNGR1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111215	NM_000416.3(IFNGR1):c.547-131C>T	IFNGR1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111214	NM_000416.3(IFNGR1):c.547-104A>G	IFNGR1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111212	NM_000416.3(IFNGR1):c.373+305dup	IFNGR1	Duplication (intron variant)	not provided	Gnot provided
Select item 111211	NM_000416.3(IFNGR1):c.373+116T>C	IFNGR1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111210	NM_000416.3(IFNGR1):c.1268G>A (p.Ser423Asn)	IFNGR1 (S423N +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 111206	NM_000416.2(IFNGR1):c.-255C>T	IFNGR1	Single nucleotide variant	not provided	Gnot provided
Select item 111204	NM_000416.3(IFNGR1):c.*313del	IFNGR1	Deletion (3 prime UTR variant)	not provided	Gnot provided
Select item 111203	NM_000416.3(IFNGR1):c.*140G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided