AGBL4[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2258685	NM_032785.4(AGBL4):c.1465G>A (p.Asp489Asn)	AGBL4 (D492N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614295	NM_032785.4(AGBL4):c.1462G>A (p.Gly488Arg)	AGBL4 (G479R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543732	NM_032785.4(AGBL4):c.1439C>T (p.Ala480Val)	AGBL4 (A471V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056820	NM_032785.4(AGBL4):c.1327G>A (p.Val443Met)	AGBL4 (V443M +1 more)	Single nucleotide variant (missense variant +1 more)	AGBL4-related condition	GBenign
Select item 2396350	NM_032785.4(AGBL4):c.1316G>A (p.Arg439Gln)	AGBL4 (R439Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048435	NM_032785.4(AGBL4):c.1124G>A (p.Arg375Gln)	AGBL4 (R375Q +1 more)	Single nucleotide variant (missense variant +1 more)	AGBL4-related condition	GBenign
Select item 2467126	NM_032785.4(AGBL4):c.1123C>T (p.Arg375Trp)	AGBL4 (R375W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292499	NM_032785.4(AGBL4):c.1043G>A (p.Arg348Gln)	AGBL4 (R348Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341114	NM_032785.4(AGBL4):c.1024A>G (p.Ile342Val)	AGBL4 (I354V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511912	NM_032785.4(AGBL4):c.1014G>A (p.Met338Ile)	AGBL4 (M350I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 221682	GRCh38/hg38 1p33(chr1:48634520-49615901)x1	LOC129930503, AGBL4 +3 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 2482444	NM_032785.4(AGBL4):c.791A>G (p.Lys264Arg)	AGBL4 (K264R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213561	NM_032785.4(AGBL4):c.773G>A (p.Arg258Gln)	AGBL4 (R258Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459031	NM_032785.4(AGBL4):c.728T>C (p.Ile243Thr)	AGBL4 (I243T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055503	NM_032785.4(AGBL4):c.725-4C>T	AGBL4	Single nucleotide variant (intron variant)	AGBL4-related condition	GBenign
Select item 3044099	NM_032785.4(AGBL4):c.696G>A (p.Gly232=)	AGBL4	Single nucleotide variant (synonymous variant +1 more)	AGBL4-related condition	GLikely benign
Select item 2383312	NM_032785.4(AGBL4):c.646G>A (p.Glu216Lys)	AGBL4 (E216K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055894	NM_032785.4(AGBL4):c.644G>A (p.Arg215Gln)	AGBL4 (R215Q +1 more)	Single nucleotide variant (missense variant +1 more)	AGBL4-related condition	GBenign
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 2300356	NM_024603.4(BEND5):c.1214A>G (p.Asn405Ser)	BEND5, AGBL4 (N320S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 161769	NM_024603.4(BEND5):c.1210A>G (p.Ile404Val)	AGBL4, BEND5 (I404V +2 more)	Single nucleotide variant (intron variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 2638810	NM_024603.4(BEND5):c.1035C>T (p.Gly345=)	AGBL4, BEND5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2481410	NM_024603.4(BEND5):c.857C>T (p.Ala286Val)	AGBL4, BEND5 (A286V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481159	NM_024603.4(BEND5):c.811A>G (p.Thr271Ala)	AGBL4, BEND5 (T186A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268160	NM_024603.4(BEND5):c.793G>A (p.Glu265Lys)	AGBL4, BEND5 (E96K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339466	NM_024603.4(BEND5):c.617G>A (p.Arg206Gln)	BEND5, AGBL4 (R37Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2267368	NM_024603.4(BEND5):c.574C>A (p.Gln192Lys)	AGBL4, BEND5 (Q192K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245060	NM_024603.4(BEND5):c.508A>G (p.Met170Val)	BEND5, AGBL4 (M85V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2459866	NM_024603.4(BEND5):c.481G>T (p.Val161Leu)	AGBL4, BEND5 (V161L +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2271946	NM_024603.4(BEND5):c.467C>T (p.Pro156Leu)	BEND5, AGBL4 (P156L +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2511393	NM_024603.4(BEND5):c.455A>G (p.His152Arg)	AGBL4, BEND5 (H67R +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2323982	NM_024603.4(BEND5):c.380C>A (p.Pro127Gln)	AGBL4, BEND5 (P127Q +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2205050	NM_024603.4(BEND5):c.357C>G (p.Ile119Met)	BEND5, AGBL4 (I119M +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2624022	NM_024603.4(BEND5):c.321A>C (p.Lys107Asn)	AGBL4, BEND5 (K22N +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2228823	NM_024603.4(BEND5):c.187G>T (p.Ala63Ser)	BEND5, AGBL4 (A63S)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2638811	NM_024603.4(BEND5):c.48G>A (p.Leu16=)	AGBL4, BEND5	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2274086	NM_032785.4(AGBL4):c.607C>T (p.Leu203Phe)	AGBL4 (L203F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3041700	NM_032785.4(AGBL4):c.595-7T>G	AGBL4	Single nucleotide variant (intron variant)	AGBL4-related condition	GLikely benign
Select item 149013	GRCh38/hg38 1p33(chr1:48894921-49244163)x1	AGBL4	Copy number loss	See cases	GUncertain significance
Select item 145531	GRCh38/hg38 1p33(chr1:48894921-49214379)x1	AGBL4	Copy number loss	See cases	GUncertain significance
Select item 153683	GRCh38/hg38 1p33(chr1:48895958-49202245)x1	AGBL4	Copy number loss	See cases	GUncertain significance
Select item 3037739	NM_032785.4(AGBL4):c.594+8C>T	AGBL4	Single nucleotide variant (intron variant)	AGBL4-related condition	GBenign
Select item 3060380	NM_032785.4(AGBL4):c.426T>C (p.His142=)	AGBL4	Single nucleotide variant (synonymous variant +1 more)	AGBL4-related condition	GBenign
Select item 1342333	NC_000001.11:g.49194167_49272679del	AGBL4, AGBL4-AS1	Deletion	Developmental disorder	GUncertain significance
Select item 155532	GRCh38/hg38 1p33(chr1:49217526-49848140)x1	AGBL4, AGBL4-AS1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3050134	NM_032785.4(AGBL4):c.300T>C (p.Ile100=)	AGBL4	Single nucleotide variant (synonymous variant +1 more)	AGBL4-related condition	GLikely benign
Select item 151364	GRCh38/hg38 1p33(chr1:49268315-49296941)x1	AGBL4, AGBL4-AS1	Copy number loss	See cases	GLikely benign
Select item 148243	GRCh38/hg38 1p33(chr1:49325342-49785866)x1	AGBL4, AGBL4-IT1	Copy number loss	See cases	GUncertain significance
Select item 156737	Single allele	AGBL4, AGBL4-IT1	Deletion	Large for gestational age	Gnot provided
Select item 144797	GRCh38/hg38 1p33(chr1:49463753-49522404)x1	AGBL4, AGBL4-IT1	Copy number loss	See cases	GBenign/Likely benign
Select item 144811	GRCh38/hg38 1p33(chr1:49493753-49583808)x1	AGBL4	Copy number loss	See cases	GBenign
Select item 145892	GRCh38/hg38 1p33(chr1:49662713-49727771)x1	AGBL4	Copy number loss	See cases	GLikely benign
Select item 3054422	NM_032785.4(AGBL4):c.282+7G>A	AGBL4 (E97K)	Single nucleotide variant (missense variant +1 more)	AGBL4-related condition	GLikely benign
Select item 2394809	NM_032785.4(AGBL4):c.232C>T (p.Arg78Cys)	AGBL4 (R78C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623863	NM_032785.4(AGBL4):c.220A>C (p.Thr74Pro)	AGBL4 (T74P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367878	NM_032785.4(AGBL4):c.215C>T (p.Pro72Leu)	AGBL4 (P72L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 153324	GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3	C1orf185, AGBL4 +50 more	Copy number gain	See cases	GUncertain significance
Select item 3063277	GRCh37/hg19 1p33(chr1:50250602-50400110)x1	AGBL4	Copy number loss	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685803	GRCh37/hg19 1p33(chr1:49657597-50079692)x3	AGBL4	Copy number gain	not provided	GUncertain significance
Select item 2685802	GRCh37/hg19 1p33(chr1:48948064-49982395)x3	AGBL4, BEND5	Copy number gain	not provided	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1341173	GRCh37/hg19 1p33(chr1:49578265-50161291)x3	AGBL4	Copy number gain	not provided	GUncertain significance
Select item 1340582	GRCh37/hg19 1p33(chr1:50138093-50336591)x1	AGBL4	Copy number loss	not provided	GLikely benign
Select item 1340502	GRCh37/hg19 1p33(chr1:49597900-50272466)x1	AGBL4	Copy number loss	not provided	GUncertain significance
Select item 1340310	GRCh37/hg19 1p33(chr1:50111204-50482984)x1	AGBL4	Copy number loss	not provided	GUncertain significance
Select item 980382	GRCh37/hg19 1p33(chr1:49649364-49731707)x1	AGBL4	Copy number loss	not provided	GUncertain significance
Select item 980381	GRCh37/hg19 1p33(chr1:48289410-49433953)x3	AGBL4, SLC5A9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980380	GRCh37/hg19 1p33(chr1:49379811-49442333)x1	AGBL4	Copy number loss	not provided	GLikely benign
Select item 980379	GRCh37/hg19 1p33(chr1:49498351-50440974)x1	AGBL4	Copy number loss	not provided	GLikely benign
Select item 814079	GRCh37/hg19 1p33(chr1:50448413-50605337)x1	ELAVL4, AGBL4	Copy number loss	not provided	GUncertain significance
Select item 814078	GRCh37/hg19 1p33(chr1:49826440-50408955)x3	AGBL4	Copy number gain	not provided	GUncertain significance
Select item 814077	GRCh37/hg19 1p33(chr1:49604867-49738282)x1	AGBL4	Copy number loss	not provided	GUncertain significance
Select item 814076	GRCh37/hg19 1p33(chr1:49481511-49914152)x1	AGBL4	Copy number loss	not provided	GLikely benign
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 689172	GRCh37/hg19 1p33-32.3(chr1:49754505-50787832)x1	AGBL4, ELAVL4	Copy number loss	not provided	GUncertain significance
Select item 686013	GRCh37/hg19 1p33-32.3(chr1:48833544-51095911)x1	AGBL4, BEND5 +4 more	Copy number loss	not provided	GUncertain significance
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 565093	GRCh37/hg19 1p33(chr1:49485266-49542640)x1	AGBL4	Copy number loss	not provided	GLikely benign
Select item 565092	GRCh37/hg19 1p33(chr1:49173284-49883630)x3	AGBL4, BEND5	Copy number gain	not provided	GUncertain significance
Select item 565091	GRCh37/hg19 1p33(chr1:48907713-49149495)x3	SPATA6, AGBL4	Copy number gain	not provided	GUncertain significance
Select item 523267	GRCh37/hg19 1p33-32.3(chr1:50458362-51306889)	AGBL4, DMRTA2 +2 more	Copy number loss	Global developmental delay	GUncertain significance
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 442340	GRCh37/hg19 1p33(chr1:49498351-50440974)x1	AGBL4	Copy number loss	See cases	GUncertain significance
Select item 393859	GRCh37/hg19 1p33(chr1:49620146-50049480)x1	AGBL4	Copy number loss	See cases	GUncertain significance

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Items: 87