Unique variants in the PKDCC gene

Information The variants shown are described using the NM_138370.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

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     
?/. 1 - c.-14674932_*19796353dup r.0? p.0? - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
-?/. 1 - c.60C>G r.(?) p.(=) - likely benign g.42275399C>G - PKDCC(NM_138370.3):c.60C>G (p.(Ser20=)) - PKDCC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.228dup r.(?) p.(Pro77AlafsTer95) - likely pathogenic (recessive) g.42275567dup g.42048427dup - - PKDCC_000008 - PubMed: Pagnamenta 2023 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.290_320del r.(?) p.(Leu97ProfsTer123) - likely pathogenic (recessive) g.42275629_42275659del g.42048489_42048519del - - PKDCC_000009 - PubMed: Pagnamenta 2023 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.350del r.(?) p.(Pro117Argfs*113) ACMG pathogenic (recessive) g.42275689del g.42048549del 346del - PKDCC_000004 - - - - Germline - - - - - Lulu Yan
+?/. 1 - c.380dup r.(?) p.(Arg129AlafsTer43) - likely pathogenic (recessive) g.42275719dup g.42048579dup - - PKDCC_000010 - PubMed: Pagnamenta 2023 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.492del r.(?) p.(Leu165SerfsTer65) - likely pathogenic (recessive) g.42275831del g.42048691del - - PKDCC_000011 - PubMed: Pagnamenta 2023 - rs1158542233 Germline - - - - - Johan den Dunnen
+?/. 2 - c.606dup r.(?) p.(Leu203AlafsTer96) - likely pathogenic (recessive) g.42275945dup g.42048805dup - - PKDCC_000012 - PubMed: Pagnamenta 2023 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 1i c.639+1G>T r.spl p.? - likely pathogenic (recessive), pathogenic (recessive) g.42275979G>T g.42048839G>T - - PKDCC_000007 - PubMed: Pagnamenta 2023, PubMed: Sajan 2019 - rs763243200 Germline - - - - - Johan den Dunnen
+/. 1 2 c.651C>A r.(?) p.(Tyr217*) - pathogenic (recessive) g.42280390C>A g.42053250C>A - - PKDCC_000006 - PubMed: Sajan 2019 - rs761532715 Germline - - - - - Johan den Dunnen
-?/. 1 - c.709G>A r.(?) p.(Ala237Thr) - likely benign g.42280448G>A - PKDCC(NM_138370.2):c.709G>A (p.(Ala237Thr)) - PKDCC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 2 - c.785T>G r.(?) p.(Leu262Arg) - likely pathogenic (recessive) g.42281198T>G g.42054058T>G - - PKDCC_000013 - PubMed: Pagnamenta 2023 - rs373676533 Germline - - - - - Johan den Dunnen
+?/. 1 - c.939dup r.(?) p.(Leu314ThrfsTer29) - likely pathogenic (recessive) g.42281352dup g.42054212dup - - PKDCC_000014 - PubMed: Pagnamenta 2023 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.994G>T r.(?) p.(Glu332*) ACMG pathogenic (recessive) g.42281407G>T g.42054267G>T - - PKDCC_000005 - - - - Germline - - - - - Lulu Yan
?/. 1 - c.1138G>A r.(?) p.(Glu380Lys) - VUS g.42282449G>A - - - PKDCC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.1222+5G>A r.spl? p.? - likely benign, VUS g.42282538G>A - PKDCC(NM_138370.3):c.1222+5G>A - PKDCC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
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