"Ambry Genetics"[submitter] AND "DEPDC5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 407350	NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys)	DEPDC5 (R2K)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +3 more	GConflicting classifications of pathogenicity
Select item 466464	NM_001242896.3(DEPDC5):c.20A>G (p.Tyr7Cys)	DEPDC5 (Y7C)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 50819	NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)	DEPDC5 (Y7*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 698230	NM_001242896.3(DEPDC5):c.45C>T (p.Gly15=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1045465	NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg)	DEPDC5 (H32R)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 2480062	NM_001242896.3(DEPDC5):c.134A>G (p.Asn45Ser)	DEPDC5 (N45S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 414471	NM_001242896.3(DEPDC5):c.146+5G>A	DEPDC5	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 264749	NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)	DEPDC5 (Q54P)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1784727	NM_001242896.3(DEPDC5):c.202A>G (p.Ser68Gly)	DEPDC5 (S68G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 534797	NM_001242896.3(DEPDC5):c.233G>C (p.Arg78Pro)	DEPDC5 (R78P)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GConflicting classifications of pathogenicity
Select item 466472	NM_001242896.3(DEPDC5):c.252T>C (p.Asp84=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 941573	NM_001242896.3(DEPDC5):c.257A>G (p.Tyr86Cys)	DEPDC5 (Y86C)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 701035	NM_001242896.3(DEPDC5):c.258T>C (p.Tyr86=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 466473	NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp)	DEPDC5 (N88D)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 210844	NM_001242896.3(DEPDC5):c.298G>A (p.Val100Met)	DEPDC5 (V100M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 466484	NM_001242896.3(DEPDC5):c.363+6_363+7del	DEPDC5	Deletion (intron variant)	Familial focal epilepsy with variable foci +3 more	GBenign/Likely benign
Select item 1743565	NM_001242896.3(DEPDC5):c.484G>C (p.Val162Leu)	DEPDC5 (V162L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 374454	NM_001242896.3(DEPDC5):c.501G>A (p.Thr167=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +2 more	GConflicting classifications of pathogenicity
Select item 859700	NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +2 more	GConflicting classifications of pathogenicity
Select item 1515211	NM_001242896.3(DEPDC5):c.547G>A (p.Asp183Asn)	DEPDC5 (D155N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 944676	NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)	DEPDC5 (Y163C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 699043	NM_001242896.3(DEPDC5):c.748T>G (p.Phe250Val)	DEPDC5 (F222V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GConflicting classifications of pathogenicity
Select item 654814	NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs)	DEPDC5 (E237fs +1 more)	Microsatellite (frameshift variant +1 more)	Familial focal epilepsy with variable foci +1 more	GPathogenic
Select item 579549	NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys)	DEPDC5 (R264K +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +2 more	GUncertain significance
Select item 1007024	NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe)	DEPDC5 (L249F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 264753	NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)	DEPDC5 (Y281F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GConflicting classifications of pathogenicity
Select item 2481857	NM_001242896.3(DEPDC5):c.864A>C (p.Glu288Asp)	DEPDC5 (E260D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 257663	NM_001242896.3(DEPDC5):c.885A>G (p.Gln295=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +3 more	GBenign
Select item 1765564	NM_001242896.3(DEPDC5):c.903del (p.Ala302fs)	DEPDC5 (A302fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 590193	NM_001242896.3(DEPDC5):c.944A>G (p.Asn315Ser)	DEPDC5 (N315S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 466500	NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser)	DEPDC5 (N323S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1055779	NM_001242896.3(DEPDC5):c.971G>A (p.Arg324His)	DEPDC5 (R296H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 1083021	NM_001242896.3(DEPDC5):c.1011G>A (p.Thr337=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 2305883	NM_001242896.3(DEPDC5):c.1021G>T (p.Gly341Cys)	DEPDC5 (G313C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588122	NM_001242896.3(DEPDC5):c.1080T>C (p.Asn360=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 257657	NM_001242896.3(DEPDC5):c.1095T>C (p.Asp365=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +3 more	GBenign
Select item 2325127	NM_001242896.3(DEPDC5):c.1118C>T (p.Pro373Leu)	DEPDC5 (P345L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322936	NM_001242896.3(DEPDC5):c.1148A>G (p.His383Arg)	DEPDC5 (H355R +1 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related condition +1 more	GUncertain significance
Select item 444583	NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp)	DEPDC5 (R385W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 238672	NM_001242896.3(DEPDC5):c.1165C>T (p.Arg389Cys)	DEPDC5 (R389C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 2273639	NM_001242896.3(DEPDC5):c.1169A>T (p.Asp390Val)	DEPDC5 (D362V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1477452	NM_001242896.3(DEPDC5):c.1218-1G>A	DEPDC5	Single nucleotide variant (splice acceptor variant)	Familial focal epilepsy with variable foci +1 more	GPathogenic
Select item 2511856	NM_001242896.3(DEPDC5):c.1234A>T (p.Ser412Cys)	DEPDC5 (S384C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511788	NM_001242896.3(DEPDC5):c.1235G>A (p.Ser412Asn)	DEPDC5 (S384N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 590194	NM_001242896.3(DEPDC5):c.1246T>C (p.Cys416Arg)	DEPDC5 (C416R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 579445	NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met)	DEPDC5 (I423M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 1307270	NM_001242896.3(DEPDC5):c.1273C>G (p.Leu425Val)	DEPDC5 (L397V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 1341924	NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro)	DEPDC5 (L397P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 701996	NM_001242896.3(DEPDC5):c.1278A>G (p.Ala426=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 444584	NM_001242896.3(DEPDC5):c.1290C>T (p.Pro430=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 589903	NM_001242896.3(DEPDC5):c.1291G>T (p.Ala431Ser)	DEPDC5 (A431S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GConflicting classifications of pathogenicity
Select item 447243	NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)	DEPDC5 (A431T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 985192	NM_001242896.3(DEPDC5):c.1310del (p.Asn437fs)	DEPDC5 (N409fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 977883	NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)	DEPDC5 (R411H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 414467	NM_001242896.3(DEPDC5):c.1321A>G (p.Thr441Ala)	DEPDC5 (T441A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GBenign/Likely benign
Select item 257658	NM_001242896.3(DEPDC5):c.1323A>C (p.Thr441=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +3 more	GBenign
Select item 414450	NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg)	DEPDC5 (G444R +1 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related condition +4 more	GBenign/Likely benign
Select item 575286	NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr)	DEPDC5 (A452T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 264756	NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val)	DEPDC5 (A452V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GBenign
Select item 414449	NM_001242896.3(DEPDC5):c.1389C>T (p.Asp463=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1145351	NM_001242896.3(DEPDC5):c.1410C>T (p.Pro470=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 466453	NM_001242896.3(DEPDC5):c.1416A>G (p.Pro472=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 466455	NM_001242896.3(DEPDC5):c.1466G>A (p.Ser489Asn)	DEPDC5 (S489N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 414453	NM_001242896.3(DEPDC5):c.1472G>C (p.Ser491Thr)	DEPDC5 (S491T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GBenign
Select item 1773475	NM_001242896.3(DEPDC5):c.1477A>C (p.Lys493Gln)	DEPDC5 (K465Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 420430	NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)	DEPDC5 (R509C +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +4 more	GConflicting classifications of pathogenicity
Select item 565512	NM_001242896.3(DEPDC5):c.1526G>A (p.Arg509His)	DEPDC5 (R509H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1774950	NM_001242896.3(DEPDC5):c.1546G>T (p.Val516Leu)	DEPDC5 (V516L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 264732	NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)	DEPDC5 (Q519* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +3 more	GPathogenic
Select item 50820	NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter)	DEPDC5 (R555* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 937017	NM_001242896.3(DEPDC5):c.1664G>A (p.Arg555Gln)	DEPDC5 (R555Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1105922	NM_001242896.3(DEPDC5):c.1674G>A (p.Leu558=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 940948	NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu)	DEPDC5 (D540E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 466458	NM_001242896.3(DEPDC5):c.1758T>C (p.Val586=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 573150	NM_001242896.3(DEPDC5):c.1794T>G (p.Ile598Met)	DEPDC5 (I598M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 264735	NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)	DEPDC5 (R637* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial focal epilepsy with variable foci +2 more	GConflicting classifications of pathogenicity
Select item 257659	NM_001242896.3(DEPDC5):c.1922C>T (p.Ala641Val)	DEPDC5 (A641V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +3 more	GBenign
Select item 589219	NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs)	DEPDC5 (S627fs +1 more)	Microsatellite (frameshift variant +2 more)	Familial focal epilepsy with variable foci +1 more	GPathogenic
Select item 466460	NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=)	DEPDC5	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 466461	NM_001242896.3(DEPDC5):c.2006+3G>A	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 566053	NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln)	DEPDC5 (H670Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 534819	NM_001242896.3(DEPDC5):c.2019C>G (p.Ser673=)	DEPDC5	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 238673	NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)	DEPDC5 (R674C +1 more)	Single nucleotide variant (missense variant +2 more)	DEPDC5-related condition +4 more	GBenign/Likely benign
Select item 590145	NM_001242896.3(DEPDC5):c.2026C>G (p.Pro676Ala)	DEPDC5 (P676A +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 466462	NM_001242896.3(DEPDC5):c.2034C>T (p.Asp678=)	DEPDC5	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 649304	NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr)	DEPDC5 (F654Y +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 1488258	NM_001242896.3(DEPDC5):c.2055C>G (p.Phe685Leu)	DEPDC5 (F657L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +1 more	GConflicting classifications of pathogenicity
Select item 238674	NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu)	DEPDC5 (F685L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +3 more	GBenign
Select item 433142	NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala)	DEPDC5 (E689A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 414472	NM_001242896.3(DEPDC5):c.2072T>C (p.Leu691Pro)	DEPDC5 (L691P +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +2 more	GBenign/Likely benign
Select item 414447	NM_001242896.3(DEPDC5):c.2075C>T (p.Ser692Phe)	DEPDC5 (S692F +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +2 more	GBenign/Likely benign
Select item 1062864	NM_001242896.3(DEPDC5):c.2105-4A>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci +1 more	GConflicting classifications of pathogenicity
Select item 414462	NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe)	DEPDC5 (S712F +2 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GBenign
Select item 414470	NM_001242896.3(DEPDC5):c.2139A>G (p.Leu713=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 695487	NM_001242896.3(DEPDC5):c.2178A>G (p.Thr726=)	DEPDC5	Single nucleotide variant (synonymous variant +2 more)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 414452	NM_001242896.3(DEPDC5):c.2241C>G (p.Leu747=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign
Select item 588221	NM_001242896.3(DEPDC5):c.2243C>G (p.Thr748Ser)	DEPDC5 (T670S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 590089	NM_001242896.3(DEPDC5):c.2287C>T (p.Arg763Cys)	DEPDC5 (R685C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 941938	NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu)	DEPDC5 (R685L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 653098	NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val)	DEPDC5 (M765V +3 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance

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