"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "IFIH1"[gen - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1319650	NM_022168.4(IFIH1):c.*7del	IFIH1	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 474957	NM_022168.4(IFIH1):c.2946C>T (p.Leu982=)	IFIH1	Single nucleotide variant (synonymous variant)	IFIH1-related condition +4 more	GBenign/Likely benign
Select item 579785	NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)	IFIH1 (G965S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705603	NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)	IFIH1 (Q955E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 663134	NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)	IFIH1 (D953N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GUncertain significance
Select item 541779	NM_022168.4(IFIH1):c.2807+1G>A	IFIH1	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 7 +4 more	GConflicting classifications of pathogenicity
Select item 474956	NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile)	IFIH1 (V929I)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GBenign/Likely benign
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 860887	NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr)	IFIH1 (I881T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 541773	NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu)	IFIH1 (P866L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +4 more	GLikely benign
Select item 653250	NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter)	IFIH1 (R850*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 474952	NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)	IFIH1 (E842K)	Single nucleotide variant (missense variant)	IFIH1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 189338	NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)	IFIH1 (R822Q)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1879488	NM_022168.4(IFIH1):c.2405A>C (p.Asn802Thr)	IFIH1 (N802T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 541788	NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)	IFIH1 (A788T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +4 more	GConflicting classifications of pathogenicity
Select item 137622	NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)	IFIH1 (R779H)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 137624	NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)	IFIH1 (R779C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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 962581	NM_022168.4(IFIH1):c.2299del (p.Thr767fs)	IFIH1 (T767fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 7 +3 more	GConflicting classifications of pathogenicity
Select item 703823	NM_022168.4(IFIH1):c.2295C>A (p.Pro765=)	IFIH1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 541787	NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)	IFIH1 (T702I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +3 more	GBenign/Likely benign
Select item 636388	NM_022168.4(IFIH1):c.2045-1G>A	IFIH1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 570847	NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)	IFIH1 (P666S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 493286	NM_022168.4(IFIH1):c.1930G>A (p.Asp644Asn)	IFIH1 (D644N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 2651467	NM_022168.4(IFIH1):c.1916C>A (p.Ala639Glu)	IFIH1 (A639E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377048	NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)	IFIH1 (E627*)	Single nucleotide variant (nonsense)	IFIH1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 871826	NM_022168.4(IFIH1):c.1873C>A (p.His625Asn)	IFIH1 (H625N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GUncertain significance
Select item 849039	NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)	IFIH1 (R618Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 845324	NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile)	IFIH1 (M570I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 261563	NM_022168.4(IFIH1):c.1641+1G>C	IFIH1	Single nucleotide variant (splice donor variant)	Singleton-Merten syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 541780	NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)	IFIH1 (L528R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2651468	NM_022168.4(IFIH1):c.1568A>G (p.Glu523Gly)	IFIH1 (E523G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651469	NM_022168.4(IFIH1):c.1560T>C (p.Thr520=)	IFIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444523	NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala)	IFIH1 (T520A)	Single nucleotide variant (missense 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)	Aicardi-Goutieres syndrome 7 +3 more	GBenign/Likely benign
Select item 445430	NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)	IFIH1 (S438P)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 844159	NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn)	IFIH1 (D408N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 812524	NM_022168.4(IFIH1):c.1165G>A (p.Gly389Arg)	IFIH1 (G389R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2651470	NM_022168.4(IFIH1):c.1126G>A (p.Glu376Lys)	IFIH1 (E376K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425215	NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)	IFIH1 (R374H)	Single nucleotide variant (missense variant)	IFIH1-related condition +3 more	GLikely benign
Select item 541784	NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)	IFIH1 (P356T)	Single nucleotide variant (missense variant)	IFIH1-related immunodeficiency +5 more	GConflicting classifications of pathogenicity
Select item 1176397	NM_022168.4(IFIH1):c.971A>G (p.Asn324Ser)	IFIH1 (N324S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 871827	NM_022168.4(IFIH1):c.969G>T (p.Lys323Asn)	IFIH1 (K323N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970300	NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter)	IFIH1 (Q307*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 705357	NM_022168.4(IFIH1):c.906G>A (p.Pro302=)	IFIH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2571090	NM_022168.4(IFIH1):c.789_804del (p.Glu264fs)	IFIH1 (E264fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1930023	NM_022168.4(IFIH1):c.744T>G (p.Ser248=)	IFIH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2651471	NM_022168.4(IFIH1):c.663A>G (p.Glu221=)	IFIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726698	NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu)	IFIH1 (P218L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1013413	NM_022168.4(IFIH1):c.557G>T (p.Arg186Leu)	IFIH1 (R186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675799	NM_022168.4(IFIH1):c.524A>T (p.Glu175Val)	IFIH1 (E175V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +2 more	GUncertain significance
Select item 425216	NM_022168.4(IFIH1):c.505A>T (p.Lys169Ter)	IFIH1 (K169*)	Single nucleotide variant (nonsense)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1628365	NM_022168.4(IFIH1):c.453+5G>C	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +2 more	GBenign/Likely benign
Select item 541775	NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly)	IFIH1 (R149G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705192	NM_022168.4(IFIH1):c.420G>A (p.Glu140=)	IFIH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1436134	NM_022168.4(IFIH1):c.261C>T (p.Gly87=)	IFIH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 703989	NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)	IFIH1 (R77W)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 808838	NM_022168.4(IFIH1):c.113T>C (p.Leu38Pro)	IFIH1 (L38P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 59