"Ambry Genetics"[submitter] AND "BEND5"[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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: 21