Related gene-specific medical variations for Gene (Select 64135) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366288	NM_022168.4(IFIH1):c.2384G>A (p.Gly795Asp)	IFIH1 (G795D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GUncertain significance
Select item 3361264	NM_022168.4(IFIH1):c.3019C>A (p.Pro1007Thr)	IFIH1 (P1007T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247405	NC_000002.11:g.(?_163167345)_(163171408_?)del	IFIH1	Deletion	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 3247404	NC_000002.11:g.(?_163136486)_(163139106_?)del	IFIH1	Deletion	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 3235948	NM_022168.4(IFIH1):c.2465G>C (p.Arg822Pro)	IFIH1 (R822P)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GLikely pathogenic
Select item 3064500	NM_022168.4(IFIH1):c.2808-7C>T	IFIH1	Single nucleotide variant (intron variant)	Immunodeficiency 95	GUncertain significance
Select item 2584576	NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln)	IFIH1 (E586Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2432802	NM_022168.4(IFIH1):c.2891G>A (p.Cys964Tyr)	IFIH1 (C964Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432800	NM_022168.4(IFIH1):c.791A>G (p.Glu264Gly)	IFIH1 (E264G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432799	NM_022168.4(IFIH1):c.1362TAA[1] (p.Asn456del)	IFIH1 (N456del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2432797	NM_022168.4(IFIH1):c.2296A>C (p.Met766Leu)	IFIH1 (M766L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432796	NM_022168.4(IFIH1):c.2483G>C (p.Ser828Thr)	IFIH1 (S828T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432795	NM_022168.4(IFIH1):c.2047A>C (p.Asn683His)	IFIH1 (N683H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432794	NM_022168.4(IFIH1):c.26A>G (p.Glu9Gly)	IFIH1 (E9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809763	NM_022168.4(IFIH1):c.682A>T (p.Thr228Ser)	IFIH1 (T228S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700152	NM_022168.4(IFIH1):c.1850T>C (p.Ile617Thr)	IFIH1 (I617T)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GPathogenic
Select item 1693291	NM_022168.4(IFIH1):c.2415C>G (p.Ile805Met)	IFIH1 (I805M)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GUncertain significance
Select item 1341938	NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs)	IFIH1 (F18fs)	Indel (frameshift variant)	Aicardi-Goutieres syndrome 7	GUncertain significance
Select item 1302832	NM_022168.4(IFIH1):c.-209C>G	IFIH1, LOC129935031	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1275482	NM_022168.4(IFIH1):c.-180G>A	IFIH1, LOC129935031	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 931393	NM_022168.4(IFIH1):c.1357G>A (p.Val453Met)	IFIH1 (V453M)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1	GUncertain significance
Select item 930327	NM_022168.4(IFIH1):c.770-10T>C	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1	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 636519	NM_022168.4(IFIH1):c.1564A>G (p.Lys522Glu)	IFIH1 (K522E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445991	NM_022168.4(IFIH1):c.1656G>T (p.Glu552Asp)	IFIH1 (E552D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261564	NM_022168.4(IFIH1):c.2454+4C>T	IFIH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 235556	NM_022168.4(IFIH1):c.1328A>G (p.Asp443Gly)	IFIH1 (D443G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 161758	NM_022168.4(IFIH1):c.816A>C (p.Glu272Asp)	IFIH1 (E272D)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 28