ClinVar for Gene (Select 10964) - ClinVar

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

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ADGRL4, AK5 +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 2638896	NM_006820.4(IFI44L):c.1325-2A>G	IFI44L	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2638895	NM_006820.4(IFI44L):c.99T>C (p.His33=)	IFI44L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2610143	NM_006820.4(IFI44L):c.1184T>C (p.Ile395Thr)	IFI44L (I137T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566910	NM_006820.4(IFI44L):c.817G>A (p.Gly273Arg)	IFI44L (G273R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541055	NM_006820.4(IFI44L):c.1005G>A (p.Met335Ile)	IFI44L (M335I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537051	NM_006820.4(IFI44L):c.1183A>G (p.Ile395Val)	IFI44L (I137V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535005	NM_006820.4(IFI44L):c.550G>C (p.Asp184His)	IFI44L (D184H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2519128	NM_006820.4(IFI44L):c.56T>A (p.Leu19His)	IFI44L (L19H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514607	NM_006820.4(IFI44L):c.818G>T (p.Gly273Val)	IFI44L (G273V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486933	NM_006820.4(IFI44L):c.1282G>T (p.Ala428Ser)	IFI44L (A170S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481575	NM_006820.4(IFI44L):c.953G>C (p.Cys318Ser)	IFI44L (C60S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480957	NM_006820.4(IFI44L):c.122T>C (p.Val41Ala)	IFI44L (V41A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468364	NM_006820.4(IFI44L):c.1198A>T (p.Met400Leu)	IFI44L (M400L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373707	NM_006820.4(IFI44L):c.98A>C (p.His33Pro)	IFI44L (H33P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370891	NM_006820.4(IFI44L):c.1081G>A (p.Asp361Asn)	IFI44L (D361N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2354249	NM_006820.4(IFI44L):c.107G>A (p.Ser36Asn)	IFI44L (S36N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348577	NM_006820.4(IFI44L):c.475G>C (p.Glu159Gln)	IFI44L (E159Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347558	NM_006820.4(IFI44L):c.1340C>T (p.Ala447Val)	IFI44L (A189V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2297890	NM_006820.4(IFI44L):c.1091G>A (p.Ser364Asn)	IFI44L (S364N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292444	NM_006820.4(IFI44L):c.173A>G (p.Tyr58Cys)	IFI44L (Y58C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287472	NM_006820.4(IFI44L):c.14C>T (p.Thr5Ile)	IFI44L (T5I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279303	NM_006820.4(IFI44L):c.1280G>A (p.Arg427Gln)	IFI44L (R169Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253844	NM_006820.4(IFI44L):c.932C>G (p.Ser311Cys)	IFI44L (S311C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250094	NM_006820.4(IFI44L):c.1301A>G (p.Glu434Gly)	IFI44L (E434G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244970	NM_006820.4(IFI44L):c.443G>A (p.Arg148His)	IFI44L (R148H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241106	NM_006820.4(IFI44L):c.502A>G (p.Ile168Val)	IFI44L (I168V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2225156	NM_006820.4(IFI44L):c.61A>T (p.Asn21Tyr)	IFI44L (N21Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204491	NM_006820.4(IFI44L):c.958G>A (p.Ala320Thr)	IFI44L (A62T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1321339	NM_006820.4(IFI44L):c.873T>A (p.Tyr291Ter)	IFI44L (Y291* +1 more)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 814105	GRCh37/hg19 1p31.1(chr1:78257937-79159519)x3	MIGA1, NEXN +6 more	Copy number gain	not provided	GUncertain significance
Select item 790335	NM_006820.4(IFI44L):c.176A>G (p.Asn59Ser)	IFI44L (N59S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 786463	NM_006820.4(IFI44L):c.442C>T (p.Arg148Cys)	IFI44L (R148C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 747329	NM_006820.4(IFI44L):c.528-10A>G	IFI44L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720989	NM_006820.4(IFI44L):c.1317G>A (p.Glu439=)	IFI44L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720988	NM_006820.4(IFI44L):c.887G>A (p.Arg296His)	IFI44L (R296H +1 more)	Single nucleotide variant (missense variant)	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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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	LHX8, MIGA1 +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	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 58