Unique variants in the HDAC8 gene

Information The variants shown are described using the NM_018486.2 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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 _1 c.-342_(-261_112-1)[0] r.0? p.0? - pathogenic (dominant) g.(?_71792872)_(71887236_?)del - del chrX:71792872-71887236 - HDAC8_000061 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (1:99) Johan den Dunnen
+/. 1 _1_9i c.-342_(1005+49222_1006-1)[0] r.0? p.0? - pathogenic (dominant) g.(71571689_71632632)_(72449647_?)del - del chrX:71681853-72434328 WES 71632632-72449647 by array - HDAC8_000040 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
+/. 1 _1_4i c.-342_(438-16915_438-1)[0] r.0? p.0? - pathogenic (dominant) g.(71715119_71732033)_(71951158_?)del - del chrX:71732033-71951158 - HDAC8_000054 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation blood (15m) (85:15)/blood (5y) (100:0) Johan den Dunnen
+/. 1 _1_4i c.-342_(438-31863_438-1)[0] r.0? p.0? - pathogenic (dominant) g.(71715119_71746981)_(72258405_?)del - del chrX:71746981-72258405 - HDAC8_000055 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) wt expressed Johan den Dunnen
+/. 2 10i_11_ c.1112-1204_*538[0] r.? p.? - pathogenic (dominant) g.(?_71549304)_(71551130_?)del - 1827nt del ex11 chrX:71549304-71551130, del chrX:71549304-71551130 - HDAC8_000036 - PubMed: Kaiser 2014 - - Germline, Unknown - - - - skewed X-inactivation (2:98) Johan den Dunnen
./. 1 _1_11_ c.-302839_628+135del - - - pathogenic g.71710644_72095450del g.72490794_72875600del - - HDAC8_000017 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.22G>A r.(?) p.(Ala8Thr) - likely benign g.71792590C>T - HDAC8(NM_001166419.1):c.22G>A (p.A8T) - HDAC8_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.56T>G r.(?) p.(Ile19Ser) - pathogenic (dominant) g.71792556A>C g.72572706A>C - - HDAC8_000060 - PubMed: Kaiser 2014 (Antonio) - - Unknown - - - - - Johan den Dunnen
-?/. 1 1i c.112-17dup r.(=) p.(=) - likely benign g.71791988dup g.72572138dup - - HDAC8_000005 - - - - Germline - - - - - Yu Sun
-?/. 1 1i c.112-16del r.(=) p.(=) - likely benign g.71791975del g.72572125del - - HDAC8_000004 - - - - Germline - - - - - Yu Sun
+/. 1 - c.112-1G>A r.spl? p.? - pathogenic g.71791960C>T g.72572110C>T HDAC8(NM_001166419.2):c.112-1G>A - HDAC8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 2 c.113C>T r.(?) p.(Ala38Val) - VUS g.71791958G>A g.72572108G>A - - HDAC8_000018 - - - - Germline yes - - - - Wenjuan Qiu
+/. 1 2 c.125A>C r.(?) p.(His42Pro) - pathogenic (dominant) g.71791946T>G g.72572096T>G - - HDAC8_000059 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.159G>A r.(=) p.(=) - likely benign g.71791912C>T g.72572062C>T Q53Q - HDAC8_000024 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
+/. 1 2i c.164+5G>A r.112_164del p.Ala38Aspfs*3 - pathogenic (dominant) g.71791902C>T g.72572052C>T - - HDAC8_000034 - PubMed: Harakalova 2012 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.169G>A r.(?) p.(Val57Ile) - benign g.71788730C>T g.72568880C>T HDAC8(NM_001166419.1):c.169G>A (p.V57I) - HDAC8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 3 c.211C>T r.(?) p.(His71Tyr) - pathogenic (dominant) g.71788688G>A g.72568838G>A - - HDAC8_000058 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (98:2) Johan den Dunnen
+/. 1 3 c.272C>T r.(?) p.(Pro91Leu) - pathogenic (dominant) g.71788627G>A g.72568777G>A - - HDAC8_000057 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.296-4dup r.spl? p.? - likely benign g.71787884dup - HDAC8(NM_001166419.1):c.296-4dupT - HDAC8_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.350G>A r.(?) p.(Gly117Glu) - pathogenic (dominant) g.71787826C>T g.72567976C>T - - HDAC8_000056 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.351G>T r.(?) p.(Gly117=) - likely benign g.71787825C>A - HDAC8(NM_001166419.1):c.351G>T (p.G117=) - HDAC8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4i_10i c.(437+1_437+32290)_(1111+1493_1112-1)del r.? p.(Asp147Glufs*17) - pathogenic (dominant) g.(71549927_71570090)_(71755449_71787738)del - del chrX:71570090-71755449 - HDAC8_000037 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) Johan den Dunnen
./. 1 _1_11_ c.438-3387_*426820dup - - - pathogenic g.71123084_71718505dup g.71903234_72498655dup - - NHSL2_000040 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+?/. 1 5 c.448T>C r.(?) p.(Ser150Pro) - likely pathogenic g.71715108A>G g.72495258A>G 71715086T>C - HDAC8_000003 - - - - De novo - - - - - Ilaria Parenti
+?/. 1 5 c.457T>C r.(?) p.(Cys153Arg) - likely pathogenic g.71715099A>G g.72495249A>G - - HDAC8_000007 - - - - De novo - - - - - Ilaria Parenti
+?/. 1 - c.458G>A r.(?) p.(Cys153Tyr) - likely pathogenic g.71715098C>T g.72495248C>T HDAC8(NM_001166419.1):c.458G>A (p.C153Y) - HDAC8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.458G>T r.(?) p.(Cys153Phe) - pathogenic (dominant) g.71715098C>A g.72495248C>A - - HDAC8_000053 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.467A>G r.(?) p.(Asn156Ser) - VUS g.71715089T>C g.72495239T>C HDAC8(NM_018486.2):c.467A>G (p.(Asn156Ser)) - HDAC8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.468T>C r.(?) p.(Asn156=) - likely benign g.71715088A>G g.72495238A>G HDAC8(NM_001166419.1):c.468T>C (p.N156=) - HDAC8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 5 c.468T>G r.(?) p.(Asn156Lys) - likely pathogenic g.71715088A>C g.72495238A>C 71715058T>G - HDAC8_000008 - - - - De novo - - - - - Ilaria Parenti
./. 1 - c.479T>C r.(?) p.(Leu160Pro) - pathogenic g.71715077A>G g.72495227A>G - - HDAC8_000015 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 5 c.490C>T r.(?) p.(Arg164*) - pathogenic (dominant) g.71715066G>A g.72495216G>A - - HDAC8_000052 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (8:92) Johan den Dunnen
+?/. 1 5 c.496C>T r.(?) p.(Arg166*) - likely pathogenic g.71715060G>A g.72495210G>A - - HDAC8_000009 - - - - De novo - - - - - Ilaria Parenti
-?/. 1 - c.516T>A r.(?) p.(Ile172=) - likely benign g.71715040A>T - HDAC8(NM_001166419.1):c.516T>A (p.I172=) - HDAC8_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.539A>G r.(?) p.(His180Arg) - pathogenic (dominant) g.71715017T>C g.72495167T>C - - HDAC8_000051 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
+/. 1 5i_9i c.(550+1_551-1419)_(1006-19587_1006-1)dup r.? p.(Phe336Leufs*1) - pathogenic (dominant) g.(71571689_71591275)_(71712275_71715005)dup - dup chrX:71591275-71712275 - HDAC8_000039 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (2:98) Johan den Dunnen
+/., +?/. 5 6 c.562G>A r.(?) p.(Ala188Thr) - likely pathogenic, pathogenic (dominant) g.71710845C>T g.72490995C>T NM_018486.2:c.562G>A; p.Ala188Thr - HDAC8_000050 - PubMed: Kaiser 2014, PubMed: Nair 2018 - - Unknown ? - - - skewed X-inactivation (0:100), skewed X-inactivation (95:5), skewed X-inactivation (97:3), 1 more item Johan den Dunnen
+/. 1 - c.587T>A r.(?) p.(Met196Lys) - pathogenic (dominant) g.71710820A>T g.72490970A>T 586A>T (M196K) - HDAC8_000035 - PubMed: Feng 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.601C>T r.(?) p.(His201Tyr) - likely pathogenic g.71710806G>A - HDAC8(NM_001166419.2):c.601C>T (p.H201Y) - HDAC8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 6 c.618_628del r.spl? p.(Phe207Asnfs*3) - likely pathogenic g.71710780_71710790del g.72490930_72490940del - - HDAC8_000006 - - - - De novo - - - - - Ilaria Parenti
?/. 1 - c.625C>T r.(?) p.(Pro209Ser) ACMG VUS g.71710782G>A g.72490932G>A - - HDAC8_000033 ACMG: PM2,PP3 - - - Germline - - - - - Andreas Laner
./. 1 - c.667C>T r.(?) p.(Arg223Trp) - pathogenic g.71708853G>A g.72489003G>A - - HDAC8_000016 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.688C>T r.(?) p.(Pro230Ser) - VUS g.71708832G>A g.72488982G>A HDAC8(NM_001166419.2):c.688C>T (p.P230S) - HDAC8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 8 c.698A>G r.(?) p.(Asp233Gly) - pathogenic (dominant) g.71708822T>C g.72488972T>C - - HDAC8_000049 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
+/. 1 8 c.706C>T r.(?) p.(Gln236*) - pathogenic (dominant) g.71708814G>A g.72488964G>A - - HDAC8_000048 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) wt expressed Johan den Dunnen
+/. 1 7 c.709G>T r.(?) p.(Asp237Tyr) - pathogenic (dominant) g.71708811C>A g.72488961C>A - - HDAC8_000047 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (16:84) Johan den Dunnen
+/. 1 7 c.717_719del r.(?) p.(Lys239_Tyr240delinsAsn) - pathogenic (dominant) g.71708802_71708804del g.72488952_72488954del - - HDAC8_000046 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:1) wt expressed Johan den Dunnen
+/. 1 7 c.728T>A r.(?) p.(Ile243Asn) - pathogenic (dominant) g.71708792A>T g.72488942A>T - - HDAC8_000045 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
+?/. 1 - c.737+1G>A r.spl? p.? - likely pathogenic g.71708782C>T g.72488932C>T HDAC8(NM_001166419.2):c.737+1G>A - HDAC8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/. 2 - c.738-1G>A r.spl? p.? - likely pathogenic, pathogenic g.71684582C>T g.72464732C>T HDAC8(NM_018486.2):c.738-1G>A, HDAC8(NM_018486.3):c.738-1G>A - HDAC8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.770C>G r.(?) p.(Pro257Arg) - pathogenic g.71684549G>C g.72464699G>C - - HDAC8_000025 - - - - De novo - - - - - Jinliang Li
+?/. 1 8 c.770C>T r.(?) p.(Pro257Leu) - likely pathogenic g.71684549G>A g.72464699G>A - - HDAC8_000010 - - - - De novo - - - - - Ilaria Parenti
+?/. 2 8 c.839C>T r.(?) p.(Thr280Ile) - likely pathogenic g.71684480G>A g.72464630G>A - - HDAC8_000011 - - - - Germline - - - - - Ilaria Parenti
+?/. 1 8 c.860G>A r.(?) p.(Cys287Tyr) - likely pathogenic g.71684459C>T g.72464609C>T - - HDAC8_000012 - - - - De novo - - - - - Ilaria Parenti
+/. 1 8 c.881G>A r.(?) p.(Trp294*) - pathogenic (dominant) g.71684438C>T g.72464588C>T - - HDAC8_000044 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) Johan den Dunnen
+/. 1 8 c.910G>A r.(?) p.(Gly304Arg) - pathogenic (dominant) g.71684409C>T g.72464559C>T - - HDAC8_000043 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (3:97) Johan den Dunnen
+?/+ 1 8i c.910+1G>A r.738_1005del p.Val247Phefs*38 - likely pathogenic g.71684408C>T g.72464558C>T - - HDAC8_000013 - - - - De novo - - - - - Ilaria Parenti
+/. 3 9 c.932C>T r.(?) p.(Thr311Met) - pathogenic, pathogenic (dominant) g.71681927G>A g.72462077G>A - - HDAC8_000042 VKGL data sharing initiative Nederland PubMed: Deardorff 2012, PubMed: Kaiser 2014, PubMed: Kaiser 2014 - - CLASSIFICATION record, Unknown - - - - random X-inactivation (59:41) Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.957C>T r.(=) p.(=) - likely benign g.71681902G>A g.72462052G>A T319T - HDAC8_000023 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+/., +?/. 4 9 c.958G>A r.(?) p.(Gly320Arg) - likely pathogenic, pathogenic (dominant) g.71681901C>T g.72462051C>T NM_018486.2:c.958G>A; p.Gly320Arg - HDAC8_000014 RNA expression only reference allele PubMed: Deardorff 2012, PubMed: Kaiser 2014, PubMed: Fieremans 2016, PubMed: Nair 2018 - rs398122909 De novo, Unknown ? - - - skewed X-inactivation 0:1, skewed X-inactivation (7:93 pat:mat), var expressed Johan den Dunnen, Ilaria Parenti
+/. 3 9 c.1001A>G r.(?) p.(His334Arg) - pathogenic (dominant) g.71681858T>C g.72462008T>C - - HDAC8_000041 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - blood wt expressed/fibriblast var expressed, skewed X-inactivation (100:0) Johan den Dunnen
+/. 1 10 c.1006-2A>G r.spl p.? - pathogenic (dominant) g.71571690T>C g.72351840T>C - - HDAC8_000038 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen
-/. 1 - c.*392C>G r.(=) p.(=) - benign g.71549512G>C g.72329662G>C HDAC8(NR_051952.2):n.1466C>G - HDAC8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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