All variants in the DEPDC5 gene

Information The variants shown are described using the NM_001242896.1 transcript reference sequence.

320 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-60-105A>G r.(=) p.(=) - likely benign g.32150743A>G g.31754757A>G DEPDC5(NM_001242896.3):c.-60-105A>G - DEPDC5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-60-27A>T r.(=) p.(=) - likely benign g.32150821A>T g.31754835A>T DEPDC5(NM_001242896.3):c.-60-27A>T - DEPDC5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-57G>C r.(=) p.(=) - VUS g.32150851G>C g.31754865G>C - - DEPDC5_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
?/. - c.-57G>C r.(=) p.(=) - VUS g.32150851G>C g.31754865G>C - - DEPDC5_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - Dheeraj Bobbili
?/. - c.-57G>C r.(?) p.(=) - VUS g.32150851G>C - DEPDC5(NM_001242896.1):c.-57G>C (p.?) - DEPDC5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.20A>G r.(?) p.(Tyr7Cys) - pathogenic (dominant) g.32150927A>G g.31754941A>G - - DEPDC5_000232 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.58+20del r.(=) p.(=) - likely benign g.32150985del g.31754999del DEPDC5(NM_001242896.3):c.58+20delT - DEPDC5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.58+63C>G r.(=) p.(=) - likely benign g.32151028C>G g.31755042C>G DEPDC5(NM_001242896.3):c.58+63C>G - DEPDC5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.58+68A>G r.(=) p.(=) - likely benign g.32151033A>G g.31755047A>G DEPDC5(NM_001242896.3):c.58+68A>G - DEPDC5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.58+167C>T r.(=) p.(=) - likely benign g.32151132C>T g.31755146C>T DEPDC5(NM_001242896.3):c.58+167C>T - DEPDC5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.58+177A>G r.(=) p.(=) - likely benign g.32151142A>G g.31755156A>G DEPDC5(NM_001242896.3):c.58+177A>G - DEPDC5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.58+214G>A r.(=) p.(=) - benign g.32151179G>A g.31755193G>A DEPDC5(NM_001242896.3):c.58+214G>A - DEPDC5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.59-30T>C r.(=) p.(=) - likely benign g.32154502T>C g.31758516T>C DEPDC5(NM_001242896.3):c.59-30T>C - DEPDC5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.130C>G r.(?) p.(Pro44Ala) - VUS g.32154603C>G - DEPDC5(NM_001242896.3):c.130C>G (p.(Pro44Ala)) - DEPDC5_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.147-173C>T r.(=) p.(=) - benign g.32156469C>T g.31760483C>T DEPDC5(NM_001242896.3):c.147-173C>T - DEPDC5_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.147-121C>T r.(=) p.(=) - likely benign g.32156521C>T g.31760535C>T DEPDC5(NM_001242896.3):c.147-121C>T - DEPDC5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.147-56T>A r.(=) p.(=) - benign g.32156586T>A g.31760600T>A DEPDC5(NM_001242896.3):c.147-56T>A - DEPDC5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.147-34G>A r.(=) p.(=) - benign g.32156608G>A g.31760622G>A DEPDC5(NM_001242896.3):c.147-34G>A - DEPDC5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.187C>T r.(?) p.(Gln63*) - pathogenic g.32156682C>T - - - DEPDC5_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.194-97A>G r.(=) p.(=) - benign g.32160864A>G g.31764878A>G DEPDC5(NM_001242896.3):c.194-97A>G - DEPDC5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.194-17T>A r.(=) p.(=) - likely benign g.32160944T>A g.31764958T>A DEPDC5(NM_001242896.3):c.194-17T>A - DEPDC5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.232C>T r.(?) p.(Arg78Trp) - VUS g.32160999C>T - DEPDC5(NM_001242896.1):c.232C>T (p.(Arg78Trp)) - DEPDC5_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.233G>C r.(?) p.(Arg78Pro) - VUS g.32161000G>C - DEPDC5(NM_001242896.3):c.233G>C (p.R78P) - DEPDC5_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.252T>C r.(?) p.(Asp84=) - likely benign g.32161019T>C g.31765033T>C DEPDC5(NM_001242896.2):c.252T>C (p.D84=) - DEPDC5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.253G>A r.(?) p.(Val85Ile) - VUS g.32161020G>A - - - DEPDC5_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.268G>A r.(?) p.(Val90Ile) - likely pathogenic g.32161035G>A g.31765049G>A - - DEPDC5_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - Dheeraj Bobbili
?/. - c.274C>T r.(?) p.(Pro92Ser) ACMG VUS g.32161041C>T g.31765055C>T - - DEPDC5_000156 ACMG grading: PP3,PM2 - - - Germline - - - - - Andreas Laner
-?/. - c.279+170T>G r.(=) p.(=) - likely benign g.32161216T>G g.31765230T>G DEPDC5(NM_001242896.3):c.279+170T>G - DEPDC5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.280-81T>C r.(=) p.(=) - likely benign g.32162490T>C g.31766504T>C DEPDC5(NM_001242896.3):c.280-81T>C - DEPDC5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.331C>T r.(?) p.(Arg111Cys) - likely pathogenic g.32162622C>T g.31766636C>T - - DEPDC5_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
?/. - c.363+1G>T r.spl? p.? - VUS g.32162655G>T g.31766669G>T DEPDC5(NM_001242896.2):c.363+1G>T - DEPDC5_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.363+6_363+7del r.(=) p.(=) - likely benign g.32162660_32162661del g.31766674_31766675del DEPDC5(NM_001242896.2):c.363+6_363+7delAT, DEPDC5(NM_001242896.3):c.363+6_363+7del, DEPDC5(NM_001242896.3):c.363+6_363+7delAT - DEPDC5_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.363+6_363+7del r.(=) p.(=) - likely benign g.32162660_32162661del - DEPDC5(NM_001242896.2):c.363+6_363+7delAT, DEPDC5(NM_001242896.3):c.363+6_363+7del, DEPDC5(NM_001242896.3):c.363+6_363+7delAT - DEPDC5_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.363+6_363+7del r.(=) p.(=) - likely benign g.32162660_32162661del - DEPDC5(NM_001242896.2):c.363+6_363+7delAT, DEPDC5(NM_001242896.3):c.363+6_363+7del, DEPDC5(NM_001242896.3):c.363+6_363+7delAT - DEPDC5_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.363+14T>A r.(=) p.(=) - likely benign g.32162668T>A g.31766682T>A DEPDC5(NM_001242896.3):c.363+14T>A - DEPDC5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.363+19del r.(=) p.(=) - likely benign g.32162673del g.31766687del DEPDC5(NM_001242896.3):c.363+19delT - DEPDC5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.363+185T>A r.(=) p.(=) - likely benign g.32162839T>A g.31766853T>A DEPDC5(NM_001242896.3):c.363+185T>A - DEPDC5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.364-80A>G r.(=) p.(=) - likely benign g.32164720A>G g.31768734A>G DEPDC5(NM_001242896.3):c.364-80A>G - DEPDC5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.364-10C>T r.(=) p.(=) - benign g.32164790C>T g.31768804C>T DEPDC5(NM_001242896.3):c.364-10C>T - DEPDC5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.364_368del r.364_368del p.(Val122HisfsTer20) - pathogenic (dominant) g.32164800_32164804del g.31768814_31768818del 364_368delGTCAG - DEPDC5_000229 - PubMed: Yin 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.364_368del r.364_368del p.(Val122HisfsTer20) - pathogenic (dominant) g.32164800_32164804del g.31768814_31768818del 364_368delGTCAG - DEPDC5_000229 - PubMed: Yin 2023 - - Germline - - - - - Johan den Dunnen
+/. - c.364_368del r.364_368del p.(Val122HisfsTer20) - pathogenic (dominant) g.32164800_32164804del g.31768814_31768818del 364_368delGTCAG - DEPDC5_000229 - PubMed: Yin 2023 - - Germline - - - - - Johan den Dunnen
+/. - c.364_368del r.364_368del p.(Val122HisfsTer20) - pathogenic (dominant) g.32164800_32164804del g.31768814_31768818del 364_368delGTCAG - DEPDC5_000229 - PubMed: Yin 2023 - - Germline - - - - - Johan den Dunnen
?/. - c.371C>T r.(?) p.(Thr124Ile) - VUS g.32164807C>T - DEPDC5(NM_001136029.2):c.371C>T (p.(Thr124Ile)) - DEPDC5_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.414-124T>C r.(=) p.(=) - likely benign g.32173961T>C g.31777975T>C DEPDC5(NM_001242896.3):c.414-124T>C - DEPDC5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.414-95T>C r.(=) p.(=) - likely benign g.32173990T>C g.31778004T>C DEPDC5(NM_001242896.3):c.414-95T>C - DEPDC5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 8 c.422_423insCTGG r.(?) p.(Gly142TrpfsTer3) - likely pathogenic (dominant) g.32174093_32174094insCTGG g.31778107_31778108insCTGG - - DEPDC5_000233 - PubMed: Nambot 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.435G>A r.(?) p.(Trp145Ter) - pathogenic g.32174106G>A g.31778120G>A DEPDC5(NM_001242896.3):c.435G>A (p.W145*) - DEPDC5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.461_462del r.461_462del p.(Gly154ValfsTer4) - pathogenic (dominant) g.32174132_32174133del g.31778146_31778147del 461_462delGC - DEPDC5_000230 - PubMed: Yin 2023 - - Germline - - - - - Johan den Dunnen
+/. - c.461_462del r.461_462del p.(Gly154ValfsTer4) - pathogenic (dominant) g.32174132_32174133del g.31778146_31778147del 461_462delGC - DEPDC5_000230 - PubMed: Yin 2023 - - Germline - - - - - Johan den Dunnen
+/. - c.461_462del r.461_462del p.(Gly154ValfsTer4) - pathogenic (dominant) g.32174132_32174133del g.31778146_31778147del 461_462delGC - DEPDC5_000230 - PubMed: Yin 2023 - - Germline - - - - - Johan den Dunnen
+/. - c.461_462del r.461_462del p.(Gly154ValfsTer4) - pathogenic (dominant) g.32174132_32174133del g.31778146_31778147del 461_462delGC - DEPDC5_000230 - PubMed: Yin 2023 - - Germline - - - - - Johan den Dunnen
+/. - c.461_462del r.461_462del p.(Gly154ValfsTer4) - pathogenic (dominant) g.32174132_32174133del g.31778146_31778147del 461_462delGC - DEPDC5_000230 - PubMed: Yin 2023 - - Germline - - - - - Johan den Dunnen
?/. - c.483+5G>C r.spl? p.? - VUS g.32174159G>C g.31778173G>C DEPDC5(NM_001242896.2):c.483+5G>C - DEPDC5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.483+44A>G r.(=) p.(=) - benign g.32174198A>G g.31778212A>G DEPDC5(NM_001242896.3):c.483+44A>G - DEPDC5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.504G>A r.(?) p.(Ser168=) - likely benign g.32179913G>A - DEPDC5(NM_001242896.2):c.504G>A (p.S168=) - DEPDC5_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.562+1G>A r.spl? p.? - likely pathogenic g.32179972G>A g.31783986G>A - - DEPDC5_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.575T>A r.(?) p.(Phe192Tyr) - VUS g.32180812T>A - DEPDC5(NM_001242896.3):c.575T>A (p.F192Y) - DEPDC5_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.609A>G r.(?) p.(Leu203=) - likely benign g.32180846A>G - DEPDC5(NM_001242896.3):c.609A>G (p.L203=) - DEPDC5_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.625-72A>G r.(=) p.(=) - likely benign g.32187947A>G g.31791961A>G DEPDC5(NM_001242896.3):c.625-72A>G - DEPDC5_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.(?_625-50)_(694+51_?)del r.? p.(Glu209Metfs*6) ACMG likely pathogenic (dominant) g.(?_32187969)_(32188139_?)del - NC_000022.11:g.(?_31792013)_(31792122_?)del (VCV000831318.1 ClinVar) - DEPDC5_000210 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - Andreas Laner
+/. - c.694+1G>A r.spl? p.? - pathogenic g.32188089G>A - - - DEPDC5_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.694+1G>A r.spl p.? - pathogenic g.32188089G>A g.31792103G>A - - DEPDC5_000211 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.694+23C>T r.(=) p.(=) - likely benign g.32188111C>T g.31792125C>T DEPDC5(NM_001242896.3):c.694+23C>T - DEPDC5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.694+92A>G r.(=) p.(=) - likely benign g.32188180A>G g.31792194A>G DEPDC5(NM_001242896.3):c.694+92A>G - DEPDC5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.694+156G>A r.(=) p.(=) - likely benign g.32188244G>A g.31792258G>A DEPDC5(NM_001242896.3):c.694+156G>A - DEPDC5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.694+209T>C r.(=) p.(=) - likely benign g.32188297T>C g.31792311T>C DEPDC5(NM_001242896.3):c.694+209T>C - DEPDC5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.695-109A>C r.(=) p.(=) - likely benign g.32188622A>C g.31792636A>C DEPDC5(NM_001242896.3):c.695-109A>C - DEPDC5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.814G>A r.(?) p.(Val272Ile) - VUS g.32193632G>A g.31797646G>A - - DEPDC5_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs187334123 Germline - 1/567 controls - - - Dheeraj Bobbili
-?/. - c.814G>A r.(?) p.(Val272Ile) - likely benign g.32193632G>A g.31797646G>A DEPDC5(NM_001242896.2):c.814G>A (p.V272I), DEPDC5(NM_001242896.3):c.814G>A (p.V272I) - DEPDC5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.814G>A r.(?) p.(Val272Ile) - likely benign g.32193632G>A g.31797646G>A - - DEPDC5_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs187334123 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. - c.814G>A r.(?) p.(Val272Ile) - likely benign g.32193632G>A - DEPDC5(NM_001242896.2):c.814G>A (p.V272I), DEPDC5(NM_001242896.3):c.814G>A (p.V272I) - DEPDC5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.814G>T r.(?) p.(Val272Leu) - VUS g.32193632G>T g.31797646G>T - - DEPDC5_000005 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - Dheeraj Bobbili
?/. - c.842A>T r.(?) p.(Tyr281Phe) - VUS g.32193660A>T - DEPDC5(NM_001136029.2):c.842A>T (p.(Tyr281Phe)) - DEPDC5_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.871+1G>T r.spl? p.? - likely pathogenic g.32193690G>T g.31797704G>T DEPDC5(NM_001242896.3):c.871+1G>T - DEPDC5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.871+160G>A r.(=) p.(=) - likely benign g.32193849G>A g.31797863G>A DEPDC5(NM_001242896.3):c.871+160G>A - DEPDC5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.871+167G>A r.(=) p.(=) - likely benign g.32193856G>A g.31797870G>A DEPDC5(NM_001242896.3):c.871+167G>A - DEPDC5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.871+189T>A r.(=) p.(=) - benign g.32193878T>A g.31797892T>A DEPDC5(NM_001242896.3):c.871+189T>A - DEPDC5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.872-77A>G r.(=) p.(=) - likely benign g.32194491A>G g.31798505A>G DEPDC5(NM_001242896.3):c.872-77A>G - DEPDC5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.872-62del r.(=) p.(=) - likely benign g.32194506del g.31798520del DEPDC5(NM_001242896.3):c.872-62delA - DEPDC5_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.872-37T>C r.(=) p.(=) - likely benign g.32194531T>C g.31798545T>C DEPDC5(NM_001242896.3):c.872-37T>C - DEPDC5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.883C>T r.(?) p.(Gln295*) - pathogenic g.32194579C>T - - - DEPDC5_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.885A>G r.(?) p.(Gln295=) - benign g.32194581A>G g.31798595A>G DEPDC5(NM_001242896.3):c.885A>G (p.Q295=) - DEPDC5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.946+33T>C r.(=) p.(=) - likely benign g.32194675T>C g.31798689T>C DEPDC5(NM_001242896.3):c.946+33T>C - DEPDC5_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.946+58G>A r.(=) p.(=) - benign g.32194700G>A g.31798714G>A DEPDC5(NM_001242896.3):c.946+58G>A - DEPDC5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.947-76T>C r.(=) p.(=) - likely benign g.32198614T>C g.31802628T>C DEPDC5(NM_001242896.3):c.947-76T>C - DEPDC5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.959A>C r.(?) p.(His320Pro) - VUS g.32198702A>C - DEPDC5(NM_001242896.3):c.959A>C (p.H320P) - DEPDC5_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1081+44C>A r.(=) p.(=) - likely benign g.32198868C>A g.31802882C>A DEPDC5(NM_001242896.3):c.1081+44C>A - DEPDC5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1081+144G>A r.(=) p.(=) - likely benign g.32198968G>A g.31802982G>A DEPDC5(NM_001242896.3):c.1081+144G>A - DEPDC5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1082-107G>A r.(=) p.(=) - likely benign g.32200041G>A g.31804055G>A DEPDC5(NM_001242896.3):c.1082-107G>A - DEPDC5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1095T>C r.(?) p.(Asp365=) - benign g.32200161T>C g.31804175T>C DEPDC5(NM_001242896.3):c.1095T>C (p.D365=) - DEPDC5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1143+6T>C r.(=) p.(=) - likely benign g.32200215T>C g.31804229T>C DEPDC5(NM_001242896.2):c.1143+6T>C - DEPDC5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1143+46G>C r.(=) p.(=) - likely benign g.32200255G>C g.31804269G>C DEPDC5(NM_001242896.3):c.1143+46G>C - DEPDC5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1143+92C>T r.(=) p.(=) - likely benign g.32200301C>T g.31804315C>T DEPDC5(NM_001242896.3):c.1143+92C>T - DEPDC5_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1144-102dup r.(=) p.(=) - likely benign g.32200726dup g.31804740dup DEPDC5(NM_001242896.3):c.1144-102dupC - DEPDC5_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1165C>T r.(?) p.(Arg389Cys) - benign g.32200849C>T g.31804863C>T DEPDC5(NM_001242896.3):c.1165C>T (p.R389C) - DEPDC5_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1165C>T r.(?) p.(Arg389Cys) - benign g.32200849C>T g.31804863C>T - - DEPDC5_000069 55 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41311139 Germline - 55/2795 individuals - - - Mohammed Faruq
-?/. - c.1217+119A>G r.(=) p.(=) - likely benign g.32201020A>G g.31805034A>G DEPDC5(NM_001242896.3):c.1217+119A>G - DEPDC5_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1218-13_1218-10del r.(=) p.(=) - likely benign g.32202095_32202098del g.31806109_31806112del DEPDC5(NM_001242896.3):c.1218-13_1218-10delGTTT - DEPDC5_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 18 c.1225del r.(?) p.(Thr409Hisfs*15) ACMG likely pathogenic (dominant) g.32202115del g.31806129del - - DEPDC5_000209 ACMG: PVS1, PM2_SUP PMID: 31835056 - - Germline ? - - - - Andreas Laner
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