"Baylor Genetics"[submitter] AND "IFIH1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030802	NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter)	IFIH1 (Q879*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 812532	NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)	IFIH1 (R779L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 137621	NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)	IFIH1 (R720Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GPathogenic
Select item 1032133	NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val)	IFIH1 (L676V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GUncertain significance
Select item 580488	NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	IFIH1 (D673fs)	Deletion (frameshift variant)	Immunodeficiency 95 +3 more	GConflicting classifications of pathogenicity
Select item 1030801	NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr)	IFIH1 (A339T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GUncertain significance
Select item 1039863	NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly)	IFIH1 (A319G)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1002134	NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu)	IFIH1 (F37L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance