All transcript variants in gene PCDHGA10

Information The variants shown are described using the NM_018913.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-16964219_*4826545dup - - - 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.-82203G>T VUS r.(?) p.(=) g.140710540G>T - PCDHGA1(NM_018912.2):c.289G>T (p.A97S) - PCDHGA1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-80773C>T likely benign r.(?) p.(=) g.140711970C>T - PCDHGA1(NM_018912.2):c.1719C>T (p.T573=) - PCDHGA1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-72385A>G VUS r.(?) p.(=) g.140720358A>G - PCDHGA2(NM_018915.3):c.1820A>G (p.(His607Arg)) - PCDHGA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-72227C>G benign r.(?) p.(=) g.140720516C>G - PCDHGA1(NM_018912.2):c.2421+7844C>G, PCDHGA2(NM_018915.3):c.1978C>G (p.L660V) - PCDHGA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-68020G>T VUS r.(?) p.(=) g.140724723G>T - PCDHGA3(NM_018916.3):c.1123G>T (p.(Asp375Tyr)) - PCDHGA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-67421C>T VUS r.(?) p.(=) g.140725322C>T - PCDHGA1(NM_018912.2):c.2421+12650C>T (p.(=)) - PCDHGA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-60517T>C VUS r.(?) p.(=) g.140732226T>C - PCDHGB1(NM_018922.2):c.2399T>C (p.L800S) - PCDHGA1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-51195C>A VUS r.(?) p.(=) g.140741548C>A - PCDHGB2(NM_018923.2):c.1846C>A (p.(Leu616Ile)) - PCDHGA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-47265C>T likely benign r.(?) p.(=) g.140745478C>T - PCDHGA5(NM_018918.2):c.1581C>T (p.D527=) - PCDHGA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-47109T>C benign r.(?) p.(=) g.140745634T>C - PCDHGA5(NM_018918.2):c.1737T>C (p.P579=) - PCDHGA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-42719G>T VUS r.(?) p.(=) g.140750024G>T - PCDHGA1(NM_018912.2):c.2421+37352G>T (p.(=)) - PCDHGA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-40877G>T VUS r.(?) p.(=) g.140751866G>T - PCDHGA1(NM_018912.2):c.2421+39194G>T (p.(=)) - PCDHGA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-40350C>T VUS r.(?) p.(=) g.140752393C>T - PCDHGB3(NM_032097.1):c.2432C>T (p.(Pro811Leu)) - PCDHGA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-37409A>T likely benign r.(?) p.(=) g.140755334A>T - PCDHGA6(NM_018919.2):c.1684A>T (p.I562F) - PCDHGA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-30210C>A VUS r.(?) p.(=) g.140762533C>A - PCDHGA7(NM_018920.3):c.67C>A (p.(Pro23Thr)) - PCDHGA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-30084C>T VUS r.(?) p.(=) g.140762659C>T - PCDHGA7(NM_018920.3):c.193C>T (p.(Arg65Cys)) - PCDHGA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-29274A>C VUS r.(?) p.(=) g.140763469A>C - PCDHGA7(NM_018920.3):c.1003A>C (p.(Ile335Leu)) - PCDHGA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-24516C>A VUS r.(?) p.(=) g.140768227C>A - PCDHGB4(NM_003736.2):c.776C>A (p.(Thr259Asn)) - PCDHGA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-23958A>C VUS r.(?) p.(=) g.140768785A>C - PCDHGB4(NM_003736.2):c.1334A>C (p.(Asp445Ala)) - PCDHGA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-23761G>A VUS r.(?) p.(=) g.140768982G>A - PCDHGB4(NM_003736.2):c.1531G>A (p.(Val511Met)) - PCDHGA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-23735_-23712del likely benign r.(?) p.(=) g.140769008_140769031del - PCDHGB4(NM_003736.2):c.1545_1568del (p.(Ala517_Arg524del)) - PCDHGA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-20084G>C VUS r.(?) p.(=) g.140772659G>C - PCDHGA1(NM_018912.2):c.2421+59987G>C (p.(=)) - PCDHGA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-18931G>A VUS r.(?) p.(=) g.140773812G>A - PCDHGA8(NM_014004.2):c.1432G>A (p.(Asp478Asn)) - PCDHGA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-14649A>C VUS r.(?) p.(=) g.140778094A>C - PCDHGB5(NM_018925.2):c.400A>C (p.(Thr134Pro)) - PCDHGA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-14163G>A likely benign r.(?) p.(=) g.140778580G>A - PCDHGB5(NM_018925.2):c.886G>A (p.(Glu296Lys)) - PCDHGA1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-13781G>A VUS r.(?) p.(=) g.140778962G>A - PCDHGB5(NM_018925.2):c.1268G>A (p.(Arg423Lys)) - PCDHGA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-12966A>C likely benign r.(?) p.(=) g.140779777A>C - PCDHGB5(NM_018925.2):c.2083A>C (p.(Ile695Leu)) - PCDHGA1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-9792A>C likely benign r.(?) p.(=) g.140782951A>C - PCDHGA9(NM_018921.2):c.432A>C (p.(Glu144Asp)) - PCDHGA1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-7744_-7740dup VUS r.(?) p.(=) g.140784999_140785003dup - PCDHGA9(NM_032089.1):c.2480_2484dupGTTTT (p.*829Vfs*?) - PCDHGA1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4781A>G VUS r.(?) p.(=) g.140787962A>G - PCDHGB6(NM_018926.2):c.193A>G (p.(Lys65Glu)) - PCDHGA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-4012C>T likely benign r.(?) p.(=) g.140788731C>T - PCDHGB6(NM_018926.2):c.962C>T (p.(Ala321Val)) - PCDHGA1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-3939A>G VUS r.(?) p.(=) g.140788804A>G - PCDHGA1(NM_018912.2):c.2421+76132A>G (p.(=)) - PCDHGA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-3558G>T VUS r.(?) p.(=) g.140789185G>T - PCDHGA1(NM_018912.2):c.2421+76513G>T (p.(=)) - PCDHGA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-3057C>T VUS r.(?) p.(=) g.140789686C>T - PCDHGA1(NM_018912.2):c.2421+77014C>T (p.(=)) - PCDHGA1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.223A>G VUS r.(?) p.(Arg75Gly) g.140792965A>G - PCDHGA10(NM_018913.2):c.223A>G (p.(Arg75Gly)) - PCDHGA1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2010C>G VUS r.(?) p.(Asp670Glu) g.140794752C>G - PCDHGA1(NM_018912.2):c.2422-79622C>G (p.(=)) - PCDHGA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. - c.2188C>T - r.(?) p.(Gln730*) g.140794930C>T g.141415363C>T - - PCDHGA1_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.2436+2785A>G likely benign r.(=) p.(=) g.140797963A>G - PCDHGB7(NM_018927.4):c.537A>G (p.S179=) - PCDHGA1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2436+3493C>T likely benign r.(=) p.(=) g.140798671C>T - PCDHGB7(NM_018927.4):c.1245C>T (p.T415=) - PCDHGA1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2436+3701G>C VUS r.(=) p.(=) g.140798879G>C - PCDHGA1(NM_018912.2):c.2422-75495G>C (p.(=)) - PCDHGA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2436+3781C>A VUS r.(=) p.(=) g.140798959C>A - PCDHGA1(NM_018912.2):c.2422-75415C>A (p.(=)) - PCDHGA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2436+4027C>T likely benign r.(=) p.(=) g.140799205C>T - PCDHGB7(NM_018927.4):c.1779C>T (p.A593=) - PCDHGA1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2436+4091G>A VUS r.(=) p.(=) g.140799269G>A - PCDHGB7(NM_018927.3):c.1843G>A (p.(Gly615Arg)) - PCDHGA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2436+6824A>G VUS r.(=) p.(=) g.140802002A>G - PCDHGA11(NM_018914.2):c.1208A>G (p.(Tyr403Cys)) - PCDHGA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2436+7288_2436+7290del VUS r.(=) p.(=) g.140802466_140802468del - PCDHGA11(NM_018914.2):c.1670_1672del (p.(Asp558del)) - PCDHGA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2436+7677_2436+7679del likely benign r.(=) p.(=) g.140802855_140802857del - PCDHGA11(NM_018914.2):c.2060_2062del (p.(Ser688del)) - PCDHGA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2436+15243G>A likely benign r.(=) p.(=) g.140810421G>A - PCDHGA12(NM_003735.3):c.95G>A (p.R32H) - PCDHGA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2436+15358T>C VUS r.(=) p.(=) g.140810536T>C - PCDHGA1(NM_018912.2):c.2422-63838T>C (p.(=)) - PCDHGA1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2437-17950C>G likely benign r.(=) p.(=) g.140856424C>G - PCDHGC3(NM_002588.4):c.741C>G (p.S247=) - PCDHGA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2437-7382G>A VUS r.(=) p.(=) g.140866992G>A - PCDHGA1(NM_018912.2):c.2422-7382G>A (p.(=)) - PCDHGA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2437-4068G>A VUS r.(=) p.(=) g.140870306G>A - PCDHGA1(NM_018912.2):c.2422-4068G>A (p.(=)) - PCDHGA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2509G>A VUS r.(?) p.(Asp837Asn) g.140884973G>A - PCDHGB1(NM_018922.2):c.2482G>A (p.D828N) - PCDHGA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2573C>T - r.(?) p.(Ala858Val) g.140885037C>T - - - PCDHGA1_000072 - PubMed: Kiselev 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.2773G>A likely benign r.(?) p.(Gly925Ser) g.140890702G>A - PCDHGA1(NM_018912.2):c.2758G>A (p.(Gly920Ser)) - DIAPH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*5704T>A likely benign r.(=) p.(=) g.140896444T>A - - - DIAPH1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*5769A>G VUS r.(=) p.(=) g.140896509A>G - DIAPH1(NM_001079812.2):c.3701T>C (p.(Met1234Thr)) - DIAPH1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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