ClinVar for Gene (Select 79656) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260792	NM_024603.4(BEND5):c.592C>T (p.Arg198Cys)	AGBL4, BEND5 (R29C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260791	NM_024603.4(BEND5):c.133G>A (p.Glu45Lys)	AGBL4, BEND5 (E45K)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3260790	NM_024603.4(BEND5):c.514A>G (p.Ser172Gly)	AGBL4, BEND5 (S172G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133711	NM_024603.4(BEND5):c.689A>T (p.Glu230Val)	AGBL4, BEND5 (E230V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133710	NM_024603.4(BEND5):c.688G>A (p.Glu230Lys)	AGBL4, BEND5 (E230K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133709	NM_024603.4(BEND5):c.481G>A (p.Val161Met)	AGBL4, BEND5 (V76M +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3133708	NM_024603.4(BEND5):c.25G>A (p.Glu9Lys)	AGBL4, BEND5 (E9K)	Single nucleotide variant (5 prime UTR variant +3 more)	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 2685802	GRCh37/hg19 1p33(chr1:48948064-49982395)x3	AGBL4, BEND5	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 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 2624022	NM_024603.4(BEND5):c.321A>C (p.Lys107Asn)	AGBL4, BEND5 (K22N +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	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)	not specified	GUncertain significance
Select item 2481410	NM_024603.4(BEND5):c.857C>T (p.Ala286Val)	AGBL4, BEND5 (A286V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2339466	NM_024603.4(BEND5):c.617G>A (p.Arg206Gln)	AGBL4, BEND5 (R37Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2300356	NM_024603.4(BEND5):c.1214A>G (p.Asn405Ser)	AGBL4, BEND5 (N320S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271946	NM_024603.4(BEND5):c.467C>T (p.Pro156Leu)	AGBL4, BEND5 (P156L +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2245060	NM_024603.4(BEND5):c.508A>G (p.Met170Val)	AGBL4, BEND5 (M85V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2228823	NM_024603.4(BEND5):c.187G>T (p.Ala63Ser)	AGBL4, BEND5 (A63S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2205050	NM_024603.4(BEND5):c.357C>G (p.Ile119Met)	AGBL4, BEND5 (I119M +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
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 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 980381	GRCh37/hg19 1p33(chr1:48289410-49433953)x3	AGBL4, SLC5A9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565092	GRCh37/hg19 1p33(chr1:49173284-49883630)x3	AGBL4, BEND5	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221682	GRCh38/hg38 1p33(chr1:48634520-49615901)x1	LOC129930503, AGBL4 +3 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 161769	NM_024603.4(BEND5):c.1210A>G (p.Ile404Val)	AGBL4, BEND5 (I404V +2 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 37