"Susceptibility to severe COVID-19"[Disease/phenotype] AND "Al Jalila - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2428775	NM_006417.5(IFI44):c.291dup (p.Glu98fs)	IFI44 (E98fs)	Duplication (frameshift variant +1 more)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428771	NM_006417.5(IFI44):c.1037dup (p.His347fs)	IFI44 (H347fs)	Duplication (frameshift variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 296390	NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)	LYST (V2027L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2428776	NM_022168.4(IFIH1):c.2730C>A (p.Cys910Ter)	IFIH1 (C910*)	Single nucleotide variant (nonsense)	Immunodeficiency 95 +2 more	GLikely benign
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 2428773	NM_006068.5(TLR6):c.228_229insT (p.Glu77Ter)	TLR6 (E77*)	Insertion (nonsense)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428777	NM_002171.2(IFNA10):c.253C>T (p.Gln85Ter)	IFNA10 (Q85*)	Single nucleotide variant (nonsense)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428778	NM_002172.3(IFNA14):c.489del (p.Trp164fs)	IFNA14 (W164fs)	Deletion (frameshift variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 1677299	NM_138554.5(TLR4):c.526_544del (p.Asn176fs)	TLR4 (N136fs +1 more)	Deletion (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 636365	NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)	STAT2 (P489L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428770	NM_005419.4(STAT2):c.1301C>G (p.Thr434Arg)	STAT2 (T423R +3 more)	Single nucleotide variant (missense variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 636366	NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)	STAT2 (Q84K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 772806	NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)	TBK1 (L613F)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 +2 more	GBenign/Likely benign
Select item 2428769	NM_007199.3(IRAK3):c.588+2T>C	IRAK3	Single nucleotide variant (splice donor variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428766	NM_206949.3(IFI27L1):c.61+1G>A	IFI27L1	Single nucleotide variant (splice donor variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 651722	NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg)	TICAM1 (G592R +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GUncertain significance
Select item 2428772	NM_182919.4(TICAM1):c.811C>T (p.Pro271Ser)	TICAM1 (P226S +3 more)	Single nucleotide variant (missense variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428774	NM_172138.2(IFNL2):c.562C>T (p.Arg188Ter)	IFNL2 (R188*)	Single nucleotide variant (nonsense)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 1436863	NM_001289125.3(IFNAR2):c.437A>G (p.Asn146Ser)	IFNAR2, IFNAR2-IL10RB (N146S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428767	NM_001289125.3(IFNAR2):c.689T>C (p.Leu230Pro)	IFNAR2, IFNAR2-IL10RB (L230P)	Single nucleotide variant (missense variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428780	NM_000629.3(IFNAR1):c.131A>C (p.Asn44Thr)	IFNAR1 (N44T)	Single nucleotide variant (missense variant +1 more)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428779	NM_000629.3(IFNAR1):c.341G>C (p.Trp114Ser)	IFNAR1 (W114S +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428768	NM_005534.4(IFNGR2):c.985G>T (p.Glu329Ter)	IFNGR2, TMEM50B (E329* +1 more)	Single nucleotide variant (nonsense)	Susceptibility to severe COVID-19	GLikely risk allele

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23