"Fulgent Genetics, Fulgent Genetics"[submitter] AND "IFIH1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474957	NM_022168.4(IFIH1):c.2946C>T (p.Leu982=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +3 more	GBenign/Likely benign
Select item 663134	NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)	IFIH1 (D953N)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +3 more	GUncertain significance
Select item 541779	NM_022168.4(IFIH1):c.2807+1G>A	IFIH1	Single nucleotide variant (splice donor variant)	Immunodeficiency 95 +3 more	GConflicting classifications of pathogenicity
Select item 582309	NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)	IFIH1 (N930H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1361425	NM_022168.4(IFIH1):c.2454+1G>T	IFIH1	Single nucleotide variant (splice donor variant)	Immunodeficiency 95 +2 more	GUncertain significance
Select item 137622	NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)	IFIH1 (R779H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +10 more	GPathogenic/Likely pathogenic
Select item 1042492	NM_022168.4(IFIH1):c.2305-2A>G	IFIH1	Single nucleotide variant (splice acceptor variant)	Singleton-Merten syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 704305	NM_022168.4(IFIH1):c.2304+3A>G	IFIH1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 7 +3 more	GLikely benign
Select item 837605	NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs)	IFIH1 (T739fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +3 more	GUncertain significance
Select item 1034429	NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter)	IFIH1 (R728*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 7 +3 more	GConflicting classifications of pathogenicity
Select item 1442100	NM_022168.4(IFIH1):c.2045-1G>T	IFIH1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GUncertain significance
Select item 377097	NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs)	IFIH1 (R674fs)	Microsatellite (frameshift variant)	Singleton-Merten syndrome 1 +3 more	GLikely benign
Select item 837942	NM_022168.4(IFIH1):c.1589del (p.Asn530fs)	IFIH1 (N530fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 703432	NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val)	IFIH1 (G494V)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GBenign/Likely benign
Select item 291088	NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu)	IFIH1 (G389E)	Single nucleotide variant (missense variant)	IFIH1-related disorder +3 more	GUncertain significance
Select item 1305619	NM_022168.4(IFIH1):c.1095+1G>A	IFIH1	Single nucleotide variant (splice donor variant)	Immunodeficiency 95 +3 more	GUncertain significance
Select item 541789	NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)	IFIH1 (K349R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +3 more	GBenign/Likely benign
Select item 1607219	NM_022168.4(IFIH1):c.875-11A>C	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +2 more	GBenign/Likely benign
Select item 1000906	NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro)	IFIH1 (S244P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 845631	NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys)	IFIH1 (R186C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 541785	NM_022168.4(IFIH1):c.177T>C (p.Val59=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +3 more	GBenign/Likely benign

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Items: 21