Full data view for gene PDCD10


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_007217.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2i_3i c.(-117+1_-116-1)_(96+1_97-1) r.0? p.0? Unknown - pathogenic g.(167422684_167437849)_(167438062_167452001)del g.(167704896_167720061)_(167720274_167734213)del (-117_-116)_(96+1_97-1) - PDCD10_000035 - PubMed: Nardella 2018 - - Germline - - - - - DNA SEQ - - CCM - PubMed: Nardella 2018 - - - Italy - - - - - 1 Johan den Dunnen
+/. 2i_9_ c.(?_-116-2911)_*402{0} r.0? p.0? Unknown - pathogenic g.(?_167256021)_(167440972_?)del g.(?_167538233)_(167723184_?)del del ex4-10, g.(167256020_167256021)_(167440972_167440973)del - PDCD10_000033 - PubMed: Nardella 2018 - - Germline - - - - - DNA MLPA, SEQ - - CCM FamVIIIPatII2 PubMed: Nardella 2018 3-generation family, family, 4 affected (2F, 2M) M - Italy - - - - - 4 Johan den Dunnen
+/. 2i_9_ c.(?_-116-2911)_*402{0} r.0? p.0? Unknown - pathogenic g.(?_167256021)_(167440972_?)del g.(?_167538233)_(167723184_?)del del ex4-10, g.(167256020_167256021)_(167440972_167440973)del - PDCD10_000033 - PubMed: Nardella 2018 - - Germline - - - - - DNA MLPA, SEQ - - CCM FamVIIIPatIII1 PubMed: Nardella 2018 daughter F - Italy - - - - - 1 Johan den Dunnen
+/. 2i_9_ c.(?_-116-2911)_*402{0} r.0? p.0? Unknown - pathogenic g.(?_167256021)_(167440972_?)del g.(?_167538233)_(167723184_?)del del ex4-10, g.(167256020_167256021)_(167440972_167440973)del - PDCD10_000033 - PubMed: Nardella 2018 - - Germline - - - - - DNA MLPA, SEQ - - CCM FamVIIIPatIII2 PubMed: Nardella 2018 daughter F - Italy - - - - - 1 Johan den Dunnen
+/. 2i_9_ c.(?_-116-2911)_*402{0} r.0? p.0? Unknown - pathogenic g.(?_167256021)_(167440972_?)del g.(?_167538233)_(167723184_?)del del ex4-10, g.(167256020_167256021)_(167440972_167440973)del - PDCD10_000033 - PubMed: Nardella 2018 - - Germline - - - - - DNA MLPA, SEQ - - CCM FamVIIIPatIII3 PubMed: Nardella 2018 son M - Italy - - - - - 1 Johan den Dunnen
+/. _1_2i c.-398_(-117+1_-116-1){0} r.0? p.0? Unknown - pathogenic g.(167438062_167452001)_(167452614_?)del g.(167720274_167734213)_(167734826_?)del g.167734826_167734214del - PDCD10_000036 - PubMed: Nardella 2018 - - Germline - - - - - DNA SEQ - - CCM - PubMed: Nardella 2018 - - - Italy - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-398_*402{0} r.0? p.0? Unknown - pathogenic g.(?_167401694)_(167452594_?)del g.(?_167683906)_(167734806_?)del (?_-1)_(*1_?)del - PDCD10_000034 - PubMed: Nardella 2018 - - Germline - - - - - DNA SEQ - - CCM - PubMed: Nardella 2018 - - - Italy - - - - - 1 Johan den Dunnen
+?/. 2i_3i c.(-117+1_-116-1)_(96+1_97-1)del r.? p.0? Unknown - likely pathogenic g.(167422684_167437849)_(167438062_167452001)del - c.(1-117_1-116)_(96+1_97-1)del - PDCD10_000019 - - - - Germline yes - - - - DNA SEQ - - CCM ? - - - - Italy - - - - - 1 Carmela Fusco
+?/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? Unknown - pathogenic g.(?_167256020)_(167440972_?)del - g.167,256,020-167,440,972 - PDCD10_000020 - - - - Germline yes - - - - DNA SEQ - - CCM ? - - - - Italy - - - - - 1 Carmela Fusco
+/. _1_10_ c.0 r.0 p.0 Unknown - pathogenic g.(167256020_167256021)_(167440972_167440973)del - - - PDCD10_000021 - - - - Germline yes - - - - DNA SEQ - - CCM3 36 - - F ? Italy - - - - - 1 Carmela Fusco
+/. _1_10_ c.0 r.0 p.0 Unknown - pathogenic g.(167256020_167256021)_(167440972_167440973)del - - - PDCD10_000021 - - - - Germline yes - - - - DNA SEQ - - CCM3 38 - - M ? Italy - - - - - 1 Carmela Fusco
+/. _1_10_ c.0 r.0 p.0 Unknown - pathogenic g.(167256020_167256021)_(167440972_167440973)del - - - PDCD10_000021 - - - - Germline ? - - - - DNA arrayCGH - - CCM3 39 - - M ? Italy - - - - - 1 Carmela Fusco
-?/. - c.18A>G r.(?) p.(=) Unknown - likely benign g.167437928T>C - PDCD10(NM_007217.3):c.18A>G (p.(Glu6=)) - PDCD10_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.30_31insTT r.(?) p.(Glu11LeufsTer24) Unknown - pathogenic g.167437916_167437917insAA g.167720128_167720129insAA PDCD10(NM_007217.3):c.30_31insTT (p.E11Lfs*24) - PDCD10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.77T>G r.(?) p.(Met26Arg) Unknown - pathogenic g.167437869A>C g.167720081A>C PDCD10(NM_007217.3):c.77T>G (p.M26R) - PDCD10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97-12T>A r.(=) p.(=) Unknown - likely benign g.167422695A>T g.167704907A>T PDCD10(NM_007217.4):c.97-12T>A - PDCD10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i_5i c.(96+1_97-1)_(268+1_269-1)del r.? p.? Unknown - likely pathogenic g.(167413511_167414796)_(167422684_167437849)del - - - PDCD10_000017 - - - - Germline yes - - - - DNA SEQ - - CCM ? - - - - Italy - - - - - 1 Carmela Fusco
+/. 3i_5i c.(96+1_97-1)_(268+1_269-1)del r.? p.(Leu33Serfs*3) Unknown - pathogenic g.(167413511_167414796)_(167422684_167437849)del g.(167695723_167697008)_(167704896_167720061)del - - PDCD10_000017 - PubMed: Nardella 2018 - - Germline - - - - - DNA SEQ - - CCM - PubMed: Nardella 2018 - - - Italy - - - - - 1 Johan den Dunnen
?/. - c.98T>C r.(?) p.(Leu33Pro) Unknown - VUS g.167422682A>G g.167704894A>G PDCD10(NM_007217.3):c.98T>C (p.L33P) - PDCD10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98T>G r.(?) p.(Leu33Arg) Unknown - VUS g.167422682A>C g.167704894A>C PDCD10(NM_007217.3):c.98T>G (p.L33R), PDCD10(NM_007217.4):c.98T>G (p.L33R) - PDCD10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.98T>G r.(?) p.(Leu33Arg) Unknown - likely pathogenic g.167422682A>C g.167704894A>C PDCD10(NM_007217.3):c.98T>G (p.L33R), PDCD10(NM_007217.4):c.98T>G (p.L33R) - PDCD10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.103C>T r.(?) p.(Arg35Ter) Unknown - pathogenic g.167422677G>A g.167704889G>A PDCD10(NM_007217.3):c.103C>T (p.R35*) - PDCD10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.103C>T r.(?) p.(Arg35Ter) Unknown - pathogenic g.167422677G>A g.167704889G>A - - PDCD10_000011 - PubMed: Nardella 2018 - - Germline - - - - - DNA SEQ - - CCM sporadic PubMed: Nardella 2018 family, 2 affected M - Italy - - - - - 2 Johan den Dunnen
-/. - c.104G>A r.(?) p.(Arg35Gln) Unknown - benign g.167422676C>T g.167704888C>T PDCD10(NM_007217.3):c.104G>A (p.R35Q, p.(Arg35Gln)), PDCD10(NM_007217.4):c.104G>A (p.R35Q), PDCD10(NM_145860.2):c.104G>A (p.R35Q) - PDCD10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104G>A r.(?) p.(Arg35Gln) Unknown - likely benign g.167422676C>T g.167704888C>T PDCD10(NM_007217.3):c.104G>A (p.R35Q, p.(Arg35Gln)), PDCD10(NM_007217.4):c.104G>A (p.R35Q), PDCD10(NM_145860.2):c.104G>A (p.R35Q) - PDCD10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104G>A r.(?) p.(Arg35Gln) Unknown - likely benign g.167422676C>T - PDCD10(NM_007217.3):c.104G>A (p.R35Q, p.(Arg35Gln)), PDCD10(NM_007217.4):c.104G>A (p.R35Q), PDCD10(NM_145860.2):c.104G>A (p.R35Q) - PDCD10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104G>A r.(?) p.(Arg35Gln) Unknown - likely benign g.167422676C>T - PDCD10(NM_007217.3):c.104G>A (p.R35Q, p.(Arg35Gln)), PDCD10(NM_007217.4):c.104G>A (p.R35Q), PDCD10(NM_145860.2):c.104G>A (p.R35Q) - PDCD10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138C>T r.(?) p.(=) Unknown - likely benign g.167422642G>A - PDCD10(NM_007217.3):c.138C>T (p.(Ala46=)) - PDCD10_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i_5i c.(150+1_151-1)_(268+1_269-1)del r.? p.? Unknown - likely pathogenic g.(167413511_167414796)_(167414915_167422629)del - - - PDCD10_000018 - - - - Germline yes - - - - DNA SEQ - - CCM ? - - - - Italy - - - - - 1 Carmela Fusco
+/. 4i_5i c.(150+1_151-1)_(268+1_269-1)del r.? p.(Ala51Serfs*3) Unknown - pathogenic g.(167413511_167414796)_(167414915_167422629)del g.(167695723_167697008)_(167697127_167704841)del - - PDCD10_000018 - PubMed: Nardella 2018 - - Germline - - - - - DNA SEQ - - CCM - PubMed: Nardella 2018 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.160_163del r.(?) p.(Glu54IlefsTer10) Unknown - pathogenic g.167414905_167414908del g.167697117_167697120del PDCD10(NM_007217.3):c.160_163delGAAA (p.E54Ifs*10) - PDCD10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214G>C r.(?) p.(Val72Leu) Unknown - likely benign g.167414851C>G g.167697063C>G PDCD10(NM_007217.3):c.214G>C (p.(Val72Leu)) - PDCD10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.245_246del r.(?) p.(Arg82Hisfs*4) Unknown - pathogenic g.167414819_167414820del - PDCD10(NM_007217.4):c.245_246delGT (p.R82Hfs*4) - PDCD10_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.283C>T r.(?) p.(Arg95*) Unknown - pathogenic g.167413496G>A g.167695708G>A - - PDCD10_000015 - - - - Germline - - - - - DNA PCR, SEQ - - CCM3 - - - M no Taiwan - - - - - 1 Kang-Yang Jih
+?/. 7 c.283C>T r.(?) p.(Arg95*) Unknown - likely pathogenic g.167413496G>A g.167695708G>A - - PDCD10_000015 - PubMed: Nardella 2018 - - Germline - - - - - DNA SEQ blood - CCM ? PubMed: Nardella 2018 family, 1 affected - - Italy white - - - - 1 Carmela Fusco
-?/. - c.311A>G r.(?) p.(Asn104Ser) Unknown - likely benign g.167413468T>C - PDCD10(NM_007217.3):c.311A>G (p.N104S) - PDCD10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.322_323del r.(?) p.(Arg108SerfsTer3) Unknown - pathogenic g.167413456_167413457del g.167695668_167695669del PDCD10(NM_007217.3):c.322_323delCG (p.R108Sfs*3) - PDCD10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.369_370del r.(?) p.(Asp123GlufsTer13) Unknown - pathogenic g.167413410_167413411del g.167695622_167695623del PDCD10(NM_007217.3):c.369_370delCA (p.D123Efs*13) - PDCD10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.377_378insA r.(?) p.(Phe127ValfsTer10) Unknown - pathogenic g.167413401_167413402insT g.167695613_167695614insT PDCD10(NM_007217.3):c.377_378insA (p.F127Vfs*10) - PDCD10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.395+5G>C r.spl? p.? Unknown - likely pathogenic g.167413379C>G g.167695591C>G PDCD10(NM_007217.4):c.395+5G>C - PDCD10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395+1605G>A r.(=) p.(=) Unknown - VUS g.167411779C>T g.167693991C>T - - PDCD10_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.395+1807dup r.(=) p.(=) Unknown - VUS g.167411590dup g.167693802dup - - PDCD10_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.395+2103A>G r.(=) p.(=) Unknown - VUS g.167411281T>C g.167693493T>C - - PDCD10_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 6 c.418G>T r.(?) p.(Glu140*) Unknown - pathogenic g.167405459C>A g.167687671C>A - - PDCD10_000031 - - - - De novo - - - - - DNA - - WGS (whole genome sequencing) CCM, DMD - - patient had both DMD and CCM M no China Asian - - - - 1 Detong Guo
+/. - c.418G>T r.(?) p.(Glu140*) Unknown - pathogenic (dominant) g.167405459C>A g.167687671C>A 418G>T no refseq - PDCD10_000031 - PubMed: Guo 2022 - - De novo - - - - - DNA MLPA, SEQ-NG - WES CCM, DMD patient PubMed: Guo 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
-?/. - c.474+9A>G r.(=) p.(=) Unknown - likely benign g.167405394T>C - PDCD10(NM_007217.3):c.474+9A>G (p.(=)) - PDCD10_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475-5T>C r.474_475= p.= Unknown ACMG VUS g.167405109A>G g.167687321A>G - - PDCD10_000032 - PubMed: He 2022 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood WES ? Fam15 PubMed: He 2022 - - - China - - - - - 1 Johan den Dunnen
+/. - c.480_481insA r.(?) p.(Glu161ArgfsTer16) Unknown - pathogenic g.167405098_167405099insT g.167687310_167687311insT PDCD10(NM_007217.3):c.480_481insA (p.E161Rfs*16) - PDCD10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574G>A r.(?) p.(Val192Ile) Unknown - likely benign g.167402161C>T g.167684373C>T PDCD10(NM_007217.3):c.574G>A (p.(Val192Ile)), PDCD10(NM_007217.4):c.574G>A (p.V192I) - PDCD10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574G>A r.(?) p.(Val192Ile) Unknown - likely benign g.167402161C>T - PDCD10(NM_007217.3):c.574G>A (p.(Val192Ile)), PDCD10(NM_007217.4):c.574G>A (p.V192I) - PDCD10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.575dup r.(?) p.(Ser193LysfsTer36) Unknown - pathogenic g.167402160dup g.167684372dup PDCD10(NM_007217.3):c.575dupT (p.S193Kfs*36) - PDCD10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.581C>T r.(?) p.(Ala194Val) Unknown - VUS g.167402154G>A - - - PDCD10_000041 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.586C>T r.(?) p.(Arg196*) Unknown - pathogenic g.167402149G>A g.167684361G>A - - PDCD10_000022 - - - - Germline yes - - - - DNA SEQ - - CCM3 40 - - F - Italy - - - - - 1 Carmela Fusco
+/. 7 c.586C>T r.(?) p.(Arg196Ter) Unknown - pathogenic g.167402149G>A g.167684361G>A - - PDCD10_000022 - PubMed: Nardella 2018 - - Germline - - - - - DNA SEQ - - CCM - PubMed: Nardella 2018 - - - Italy - - - - - 1 Johan den Dunnen
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