All variants in the PCDHGC5 gene

Information The variants shown are described using the NM_018929.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
Legend   How to query  

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.-17040284_*4826545dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
?/. - c.-158268G>T r.(?) p.(=) - VUS g.140710540G>T - PCDHGA1(NM_018912.2):c.289G>T (p.A97S) - PCDHGA1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-156838C>T r.(?) p.(=) - likely benign g.140711970C>T - PCDHGA1(NM_018912.2):c.1719C>T (p.T573=) - PCDHGA1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-148450A>G r.(?) p.(=) - VUS g.140720358A>G - PCDHGA2(NM_018915.3):c.1820A>G (p.(His607Arg)) - PCDHGA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.-148292C>G r.(?) p.(=) - benign g.140720516C>G - PCDHGA1(NM_018912.2):c.2421+7844C>G, PCDHGA2(NM_018915.4):c.1978C>G (p.L660V) - PCDHGA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.-144085G>T r.(?) p.(=) - VUS g.140724723G>T - PCDHGA3(NM_018916.3):c.1123G>T (p.(Asp375Tyr)) - PCDHGA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-143486C>T r.(?) p.(=) - VUS g.140725322C>T - PCDHGA1(NM_018912.2):c.2421+12650C>T (p.(=)) - PCDHGA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-136582T>C r.(?) p.(=) - VUS g.140732226T>C - PCDHGB1(NM_018922.2):c.2399T>C (p.L800S) - PCDHGA1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-127777C>T r.(?) p.(=) - likely benign g.140741031C>T - PCDHGB2(NM_018923.2):c.1329C>T (p.S443=) - PCDHGA1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-127260C>A r.(?) p.(=) - VUS g.140741548C>A - PCDHGB2(NM_018923.2):c.1846C>A (p.(Leu616Ile)) - PCDHGA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-118784G>T r.(?) p.(=) - VUS g.140750024G>T - PCDHGA1(NM_018912.2):c.2421+37352G>T (p.(=)) - PCDHGA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-116942G>T r.(?) p.(=) - VUS g.140751866G>T - PCDHGA1(NM_018912.2):c.2421+39194G>T (p.(=)) - PCDHGA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-116415C>T r.(?) p.(=) - VUS g.140752393C>T - PCDHGB3(NM_032097.1):c.2432C>T (p.(Pro811Leu)) - PCDHGA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-113474A>T r.(?) p.(=) - likely benign g.140755334A>T - PCDHGA6(NM_018919.2):c.1684A>T (p.I562F) - PCDHGA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-106275C>A r.(?) p.(=) - VUS g.140762533C>A - PCDHGA7(NM_018920.3):c.67C>A (p.(Pro23Thr)) - PCDHGA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-106149C>T r.(?) p.(=) - VUS g.140762659C>T - PCDHGA7(NM_018920.3):c.193C>T (p.(Arg65Cys)) - PCDHGA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-105339A>C r.(?) p.(=) - VUS g.140763469A>C - PCDHGA7(NM_018920.3):c.1003A>C (p.(Ile335Leu)) - PCDHGA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-100581C>A r.(?) p.(=) - VUS g.140768227C>A - PCDHGB4(NM_003736.2):c.776C>A (p.(Thr259Asn)) - PCDHGA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-100023A>C r.(?) p.(=) - VUS g.140768785A>C - PCDHGB4(NM_003736.2):c.1334A>C (p.(Asp445Ala)) - PCDHGA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-99826G>A r.(?) p.(=) - VUS g.140768982G>A - PCDHGB4(NM_003736.2):c.1531G>A (p.(Val511Met)) - PCDHGA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-99800_-99777del r.(?) p.(=) - likely benign g.140769008_140769031del - PCDHGB4(NM_003736.2):c.1545_1568del (p.(Ala517_Arg524del)) - PCDHGA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-96149G>C r.(?) p.(=) - VUS g.140772659G>C - PCDHGA1(NM_018912.2):c.2421+59987G>C (p.(=)) - PCDHGA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-94996G>A r.(?) p.(=) - VUS g.140773812G>A - PCDHGA8(NM_014004.2):c.1432G>A (p.(Asp478Asn)) - PCDHGA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-90714A>C r.(?) p.(=) - VUS g.140778094A>C - PCDHGB5(NM_018925.2):c.400A>C (p.(Thr134Pro)) - PCDHGA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-90228G>A r.(?) p.(=) - likely benign g.140778580G>A - PCDHGB5(NM_018925.2):c.886G>A (p.(Glu296Lys)) - PCDHGA1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-89846G>A r.(?) p.(=) - VUS g.140778962G>A - PCDHGB5(NM_018925.2):c.1268G>A (p.(Arg423Lys)) - PCDHGA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-89031A>C r.(?) p.(=) - likely benign g.140779777A>C - PCDHGB5(NM_018925.2):c.2083A>C (p.(Ile695Leu)) - PCDHGA1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-85857A>C r.(?) p.(=) - likely benign g.140782951A>C - PCDHGA9(NM_018921.2):c.432A>C (p.(Glu144Asp)) - PCDHGA1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-85644G>T r.(?) p.(=) - likely benign g.140783164G>T - PCDHGA9(NM_018921.2):c.645G>T (p.S215=) - PCDHGA1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-83809_-83805dup r.(?) p.(=) - VUS g.140784999_140785003dup - PCDHGA9(NM_032089.1):c.2480_2484dupGTTTT (p.*829Vfs*?) - PCDHGA1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-80846A>G r.(?) p.(=) - VUS g.140787962A>G - PCDHGB6(NM_018926.2):c.193A>G (p.(Lys65Glu)) - PCDHGA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-80077C>T r.(?) p.(=) - likely benign g.140788731C>T - PCDHGB6(NM_018926.2):c.962C>T (p.(Ala321Val)) - PCDHGA1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-80004A>G r.(?) p.(=) - VUS g.140788804A>G - PCDHGA1(NM_018912.2):c.2421+76132A>G (p.(=)) - PCDHGA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-79623G>T r.(?) p.(=) - VUS g.140789185G>T - PCDHGA1(NM_018912.2):c.2421+76513G>T (p.(=)) - PCDHGA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-79122C>T r.(?) p.(=) - VUS g.140789686C>T - PCDHGA1(NM_018912.2):c.2421+77014C>T (p.(=)) - PCDHGA1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-75843A>G r.(?) p.(=) - VUS g.140792965A>G - PCDHGA10(NM_018913.2):c.223A>G (p.(Arg75Gly)) - PCDHGA1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-74056C>G r.(?) p.(=) - VUS g.140794752C>G - PCDHGA1(NM_018912.2):c.2422-79622C>G (p.(=)) - PCDHGA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-69929G>C r.(?) p.(=) - VUS g.140798879G>C - PCDHGA1(NM_018912.2):c.2422-75495G>C (p.(=)) - PCDHGA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-69849C>A r.(?) p.(=) - VUS g.140798959C>A - PCDHGA1(NM_018912.2):c.2422-75415C>A (p.(=)) - PCDHGA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-69539G>A r.(?) p.(=) - VUS g.140799269G>A - PCDHGB7(NM_018927.3):c.1843G>A (p.(Gly615Arg)) - PCDHGA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-66806A>G r.(?) p.(=) - VUS g.140802002A>G - PCDHGA11(NM_018914.2):c.1208A>G (p.(Tyr403Cys)) - PCDHGA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-66342_-66340del r.(?) p.(=) - VUS g.140802466_140802468del - PCDHGA11(NM_018914.2):c.1670_1672del (p.(Asp558del)) - PCDHGA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-65953_-65951del r.(?) p.(=) - likely benign g.140802855_140802857del - PCDHGA11(NM_018914.2):c.2060_2062del (p.(Ser688del)) - PCDHGA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-58387G>A r.(?) p.(=) - likely benign g.140810421G>A - PCDHGA12(NM_003735.3):c.95G>A (p.R32H) - PCDHGA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-58272T>C r.(?) p.(=) - VUS g.140810536T>C - PCDHGA1(NM_018912.2):c.2422-63838T>C (p.(=)) - PCDHGA1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-12384C>G r.(?) p.(=) - likely benign g.140856424C>G - PCDHGC3(NM_002588.4):c.741C>G (p.S247=) - PCDHGA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-1816G>A r.(?) p.(=) - VUS g.140866992G>A - PCDHGA1(NM_018912.2):c.2422-7382G>A (p.(=)) - PCDHGA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1499G>A r.(?) p.(Gly500Glu) - VUS g.140870306G>A - PCDHGA1(NM_018912.2):c.2422-4068G>A (p.(=)) - PCDHGA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2533G>A r.(?) p.(Asp845Asn) - VUS g.140884973G>A - PCDHGB1(NM_018922.2):c.2482G>A (p.D828N) - PCDHGA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2597C>T r.(?) p.(Ala866Val) - VUS g.140885037C>T - - - PCDHGA1_000072 - PubMed: Kiselev 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.2797G>A r.(?) p.(Gly933Ser) - likely benign g.140890702G>A - PCDHGA1(NM_018912.2):c.2758G>A (p.(Gly920Ser)) - DIAPH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*5704T>A r.(=) p.(=) - likely benign g.140896444T>A - - - DIAPH1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.*5769A>G r.(=) p.(=) - VUS g.140896509A>G - DIAPH1(NM_001079812.2):c.3701T>C (p.(Met1234Thr)) - DIAPH1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
Legend   How to query