Related gene-specific medical variations for Gene (Select 3659) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110832	NM_002198.3(IRF1):c.287A>G (p.Asp96Gly)	IRF1, LOC126807508 (D96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034336	NM_002198.3(IRF1):c.415-10C>T	IRF1, LOC126807508	Single nucleotide variant (intron variant)	IRF1-related disorder	GLikely benign
Select item 2688385	NM_002198.3(IRF1):c.667+77A>C	IRF1, LOC126807508	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688383	NM_002198.3(IRF1):c.544+25A>G	IRF1, LOC126807508	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688382	NM_002198.3(IRF1):c.545-68A>G	IRF1, LOC126807508	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688381	NM_002198.3(IRF1):c.545-7T>C	IRF1, LOC126807508	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688380	NM_002198.3(IRF1):c.555A>G (p.Pro185=)	IRF1, LOC126807508	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 2686000	NM_002198.3(IRF1):c.385C>T (p.Arg129Ter)	IRF1, LOC126807508 (R129*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 117	GPathogenic
Select item 2343757	NM_002198.3(IRF1):c.524T>C (p.Val175Ala)	IRF1, LOC126807508 (V175A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291335	NM_002198.3(IRF1):c.357G>C (p.Gln119His)	IRF1, LOC126807508 (Q119H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214482	NM_002198.3(IRF1):c.434C>T (p.Pro145Leu)	IRF1, LOC126807508 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790794	NM_002198.3(IRF1):c.345C>G (p.Leu115=)	IRF1, LOC126807508	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign