ClinVar for Gene (Select 10561) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108144	NM_006417.5(IFI44):c.820A>G (p.Asn274Asp)	IFI44 (N274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108143	NM_006417.5(IFI44):c.419C>G (p.Thr140Ser)	IFI44 (T140S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108142	NM_006417.5(IFI44):c.373A>G (p.Met125Val)	IFI44 (M125V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108141	NM_006417.5(IFI44):c.17G>A (p.Arg6His)	IFI44 (R6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108140	NM_006417.5(IFI44):c.1234C>G (p.Arg412Gly)	IFI44 (R412G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108139	NM_006417.5(IFI44):c.1196A>C (p.Asp399Ala)	IFI44 (D399A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108138	NM_006417.5(IFI44):c.107G>A (p.Arg36His)	IFI44 (R36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	DNAJB4, DNASE2B +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685808	GRCh37/hg19 1p31.1(chr1:78421460-79541287)x3	ADGRL4, DNAJB4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685488	GRCh37/hg19 1p31.1(chr1:79035187-79335688)x1	IFI44, IFI44L	Copy number loss	not provided	GUncertain significance
Select item 2602478	NM_006417.5(IFI44):c.646C>T (p.His216Tyr)	IFI44 (H216Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600010	NM_006417.5(IFI44):c.191A>G (p.Tyr64Cys)	IFI44 (Y64C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592203	NM_006417.5(IFI44):c.644C>T (p.Thr215Met)	IFI44 (T215M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569327	NM_006417.5(IFI44):c.16C>T (p.Arg6Cys)	IFI44 (R6C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557370	NM_006417.5(IFI44):c.1037C>T (p.Thr346Ile)	IFI44 (T346I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542255	NM_006417.5(IFI44):c.1235G>A (p.Arg412Gln)	IFI44 (R412Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521406	NM_006417.5(IFI44):c.68G>A (p.Arg23Gln)	IFI44 (R23Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510300	NM_006417.5(IFI44):c.424T>G (p.Ser142Ala)	IFI44 (S142A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476565	NM_006417.5(IFI44):c.1315T>C (p.Cys439Arg)	IFI44 (C439R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456051	NM_006417.5(IFI44):c.584T>C (p.Ile195Thr)	IFI44 (I195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2404942	NM_006417.5(IFI44):c.434A>T (p.Asp145Val)	IFI44 (D145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380051	NM_006417.5(IFI44):c.830A>G (p.Asp277Gly)	IFI44 (D277G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370769	NM_006417.5(IFI44):c.278G>T (p.Gly93Val)	IFI44 (G93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357657	NM_006417.5(IFI44):c.370A>T (p.Ile124Phe)	IFI44 (I124F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352455	NM_006417.5(IFI44):c.480A>G (p.Ile160Met)	IFI44 (I160M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2328086	NM_006417.5(IFI44):c.1135C>A (p.Leu379Ile)	IFI44 (L379I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313391	NM_006417.5(IFI44):c.1172A>G (p.Asn391Ser)	IFI44 (N391S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303031	NM_006417.5(IFI44):c.782G>A (p.Gly261Asp)	IFI44 (G261D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299256	NM_006417.5(IFI44):c.10A>G (p.Thr4Ala)	IFI44 (T4A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288217	NM_006417.5(IFI44):c.34G>A (p.Glu12Lys)	IFI44 (E12K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254430	NM_006417.5(IFI44):c.382A>G (p.Lys128Glu)	IFI44 (K128E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234679	NM_006417.5(IFI44):c.1075C>T (p.Leu359Phe)	IFI44 (L359F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205632	NM_006417.5(IFI44):c.1213C>G (p.Leu405Val)	IFI44 (L405V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1321330	NM_006417.5(IFI44):c.732C>G (p.Tyr244Ter)	IFI44 (Y244*)	Single nucleotide variant (nonsense +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 979893	GRCh37/hg19 1p31.1(chr1:79113712-79189810)x1	IFI44	Copy number loss	not provided	GLikely benign
Select item 814105	GRCh37/hg19 1p31.1(chr1:78257937-79159519)x3	MIGA1, NEXN +6 more	Copy number gain	not provided	GUncertain significance
Select item 723873	NM_006417.5(IFI44):c.81C>G (p.Leu27=)	IFI44	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686509	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686133	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565118	GRCh37/hg19 1p31.1(chr1:78889336-79190906)x1	IFI44L, IFI44 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443570	GRCh37/hg19 1p31.1(chr1:78633282-79140880)x1	IFI44, IFI44L +1 more	Copy number loss	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 152108	GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1	ADGRL4, DNAJB4 +33 more	Copy number loss	See cases	GUncertain significance
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 56