"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 705603	NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)	IFIH1 (Q955E)	Single nucleotide variant (missense variant)	Immunodeficiency 95 +3 more	GConflicting classifications of pathogenicity
Select item 703947	NM_022168.4(IFIH1):c.2682G>A (p.Lys894=)	IFIH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1299268	NM_022168.4(IFIH1):c.2417G>A (p.Arg806His)	IFIH1 (R806H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 541787	NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)	IFIH1 (T702I)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GBenign/Likely benign
Select item 767269	NM_022168.4(IFIH1):c.1642-8A>G	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 541780	NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)	IFIH1 (L528R)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 445430	NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)	IFIH1 (S438P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 541784	NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)	IFIH1 (P356T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +5 more	GConflicting classifications of pathogenicity
Select item 541789	NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)	IFIH1 (K349R)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GBenign/Likely benign
Select item 625959	NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)	IFIH1 (N160D)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GConflicting classifications of pathogenicity