C4225427[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626113	NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr)	IFIH1 (H974Y)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GUncertain significance
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 626114	NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)	IFIH1	Single nucleotide variant (synonymous variant)	Immunodeficiency 95 +2 more	GConflicting classifications of pathogenicity
Select item 474952	NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)	IFIH1 (E842K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 541788	NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)	IFIH1 (A788T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1675091	NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn)	IFIH1 (K664N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 377048	NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)	IFIH1 (E627*)	Single nucleotide variant (nonsense)	IFIH1-related immunodeficiency +6 more	GConflicting classifications of pathogenicity
Select item 626112	NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)	IFIH1 (K596fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 626115	NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)	IFIH1 (M567I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +3 more	GConflicting classifications of pathogenicity
Select item 261563	NM_022168.4(IFIH1):c.1641+1G>C	IFIH1	Single nucleotide variant (splice donor variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 541774	NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)	IFIH1 (Q415K)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 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 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
Select item 625960	NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser)	IFIH1 (A153S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GUncertain significance