Full data view for gene HDAC8

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

89 entries on 1 page. Showing entries 1 - 89.
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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     
+/. _1 c.-342_(-261_112-1)[0] r.0? p.0? Unknown - pathogenic (dominant) g.(?_71792872)_(71887236_?)del - del chrX:71792872-71887236 - HDAC8_000061 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (1:99) DNA SEQ - - CDLS R27C10 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. _1_9i c.-342_(1005+49222_1006-1)[0] r.0? p.0? Unknown - pathogenic (dominant) g.(71571689_71632632)_(72449647_?)del - del chrX:71681853-72434328 WES 71632632-72449647 by array - HDAC8_000040 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS HD8HC1P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. _1_4i c.-342_(438-16915_438-1)[0] r.0? p.0? Unknown - 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) DNA SEQ - - CDLS R34B12/DECIPHER 252235 PubMed: Kaiser 2014 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_4i c.-342_(438-31863_438-1)[0] r.0? p.0? Unknown - pathogenic (dominant) g.(71715119_71746981)_(72258405_?)del - del chrX:71746981-72258405 - HDAC8_000055 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) wt expressed DNA SEQ - - CDLS CDL209P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 10i_11_ c.1112-1204_*538[0] r.? p.? Unknown - pathogenic (dominant) g.(?_71549304)_(71551130_?)del - 1827nt del ex11 chrX:71549304-71551130 - HDAC8_000036 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (2:98) DNA SEQ - - CDLS D11-209M PubMed: Kaiser 2014 2-generation family, affected mother F - - - - - - - 2 Johan den Dunnen
+/. 10i_11_ c.1112-1204_*538[0] r.? p.? Maternal (confirmed) - pathogenic (dominant) g.(?_71549304)_(71551130_?)del - del chrX:71549304-71551130 - HDAC8_000036 - PubMed: Kaiser 2014 - - Germline - - - - - DNA SEQ - - CDLS D11-209P PubMed: Kaiser 2014 affected son M - - - - - - - 1 Johan den Dunnen
./. _1_11_ c.-302839_628+135del - - Unknown - pathogenic g.71710644_72095450del g.72490794_72875600del - - HDAC8_000017 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.22G>A r.(?) p.(Ala8Thr) Unknown - likely benign g.71792590C>T - HDAC8(NM_001166419.1):c.22G>A (p.A8T) - HDAC8_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.56T>G r.(?) p.(Ile19Ser) Unknown - pathogenic (dominant) g.71792556A>C g.72572706A>C - - HDAC8_000060 - PubMed: Kaiser 2014 (Antonio) - - Unknown - - - - - DNA SEQ - - CDLS CDL347P PubMed: Kaiser 2014 (Antonio) - M - - - - - - - 1 Johan den Dunnen
-?/. - c.57C>T r.(?) p.(Ile19=) Unknown - likely benign g.71792555G>A - HDAC8(NM_001166419.1):c.57C>T (p.I19=) - HDAC8_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.112-17del r.(=) p.(=) Unknown - benign g.71791988del - HDAC8(NM_001166419.2):c.112-17delT - HDAC8_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.112-17dup r.(=) p.(=) Unknown - likely benign g.71791988dup g.72572138dup - - HDAC8_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 1i c.112-16del r.(=) p.(=) Unknown - likely benign g.71791975del g.72572125del - - HDAC8_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.112-1G>A r.spl? p.? Unknown - pathogenic g.71791960C>T g.72572110C>T HDAC8(NM_001166419.2):c.112-1G>A - HDAC8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.113C>T r.(?) p.(Ala38Val) Maternal (confirmed) - VUS g.71791958G>A g.72572108G>A - - HDAC8_000018 - - - - Germline yes - - - - DNA SEQ-NG-I blood - ID P2 - - M no China - >02y - - - 1 Wenjuan Qiu
+/. 2 c.125A>C r.(?) p.(His42Pro) Unknown - pathogenic (dominant) g.71791946T>G g.72572096T>G - - HDAC8_000059 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS HD8PA1P PubMed: Kaiser 2014 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.135T>C r.(?) p.(Ile45=) Unknown - likely benign g.71791936A>G - HDAC8(NM_001166419.1):c.135T>C (p.I45=) - HDAC8_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149T>C r.(?) p.(Leu50Pro) Unknown - VUS g.71791922A>G - HDAC8(NM_001166419.2):c.149T>C (p.L50P) - HDAC8_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159G>A r.(=) p.(=) Parent #1 - likely benign g.71791912C>T g.72572062C>T Q53Q - HDAC8_000024 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Lucy Raymond
+/. 2i c.164+5G>A r.112_164del p.Ala38Aspfs*3 Parent #1 - pathogenic (dominant) g.71791902C>T g.72572052C>T - - HDAC8_000034 - PubMed: Harakalova 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ID family PubMed: Harakalova 2012 5-generation family, 14 affected (7F, 7M) - - Netherlands - - - - - 14 Johan den Dunnen
-/. - c.169G>A r.(?) p.(Val57Ile) Unknown - benign g.71788730C>T g.72568880C>T HDAC8(NM_001166418.1):c.164+3177G>A (p.(=)), HDAC8(NM_001166419.1):c.169G>A (p.V57I) - HDAC8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169G>A r.(?) p.(Val57Ile) Unknown - likely benign g.71788730C>T - HDAC8(NM_001166418.1):c.164+3177G>A (p.(=)), HDAC8(NM_001166419.1):c.169G>A (p.V57I) - HDAC8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.211C>T r.(?) p.(His71Tyr) Unknown - pathogenic (dominant) g.71788688G>A g.72568838G>A - - HDAC8_000058 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS R23F3 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 3 c.211C>T r.(?) p.(His71Tyr) Unknown - pathogenic (dominant) g.71788688G>A g.72568838G>A - - HDAC8_000058 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (98:2) DNA SEQ - - CDLS R23F4 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 3 c.272C>T r.(?) p.(Pro91Leu) Unknown - pathogenic (dominant) g.71788627G>A g.72568777G>A - - HDAC8_000057 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS CDL423P PubMed: Kaiser 2014 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.296-4dup r.spl? p.? Unknown - likely benign g.71787884dup - HDAC8(NM_001166419.1):c.296-4dupT - HDAC8_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.350G>A r.(?) p.(Gly117Glu) Unknown - pathogenic (dominant) g.71787826C>T g.72567976C>T - - HDAC8_000056 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS CDL376P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.351G>T r.(?) p.(Gly117=) Unknown - likely benign g.71787825C>A - HDAC8(NM_001166419.1):c.351G>T (p.G117=) - HDAC8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i_10i c.(437+1_437+32290)_(1111+1493_1112-1)del r.? p.(Asp147Glufs*17) Unknown - pathogenic (dominant) g.(71549927_71570090)_(71755449_71787738)del - del chrX:71570090-71755449 - HDAC8_000037 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) DNA SEQ - - CDLS DECIPHER 268420 PubMed: Kaiser 2014 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. _1_11_ c.438-3387_*426820dup - - Maternal (confirmed) - pathogenic g.71123084_71718505dup g.71903234_72498655dup - - NHSL2_000040 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. 5 c.448T>C r.(?) p.(Ser150Pro) Unknown - likely pathogenic g.71715108A>G g.72495258A>G 71715086T>C - HDAC8_000003 - - - - De novo - - - - - DNA SEQ-NG - - CDLS5 - - - F no - - - - - - 1 Ilaria Parenti
+?/. 5 c.457T>C r.(?) p.(Cys153Arg) Unknown - likely pathogenic g.71715099A>G g.72495249A>G - - HDAC8_000007 - - - - De novo - - - - - DNA SEQ-NG-IT - - CDLS5 - - - F no - - - - - - 1 Ilaria Parenti
+?/. - c.458G>A r.(?) p.(Cys153Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.458G>T r.(?) p.(Cys153Phe) Unknown - pathogenic (dominant) g.71715098C>A g.72495248C>A - - HDAC8_000053 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS HD8NN1P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
?/. - c.467A>G r.(?) p.(Asn156Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468T>C r.(?) p.(Asn156=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.468T>G r.(?) p.(Asn156Lys) Unknown - likely pathogenic g.71715088A>C g.72495238A>C 71715058T>G - HDAC8_000008 - - - - De novo - - - - - DNA SEQ-NG-IT - - CDLS5 - - - F no - - - - - - 1 Ilaria Parenti
./. - c.479T>C r.(?) p.(Leu160Pro) Unknown - pathogenic g.71715077A>G g.72495227A>G - - HDAC8_000015 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 5 c.490C>T r.(?) p.(Arg164*) Unknown - pathogenic (dominant) g.71715066G>A g.72495216G>A - - HDAC8_000052 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (8:92) DNA SEQ - - CDLS CDLG13952 PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+?/. 5 c.496C>T r.(?) p.(Arg166*) Unknown - likely pathogenic g.71715060G>A g.72495210G>A - - HDAC8_000009 - - - - De novo - - - - - DNA SEQ-NG-IT - - CDLS5 - - - F no Italy - - - - - 1 Ilaria Parenti
?/. - c.499C>T r.(?) p.(Arg167Trp) Unknown - VUS g.71715057G>A - HDAC8(NM_001166418.1):c.226C>T (p.(Arg76Trp)) - HDAC8_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.500G>C r.(?) p.(Arg167Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.71715056C>G g.72495206C>G - - HDAC8_000065 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M260 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - 3 Johan den Dunnen
-?/. - c.516T>A r.(?) p.(Ile172=) Unknown - likely benign g.71715040A>T - HDAC8(NM_001166419.1):c.516T>A (p.I172=) - HDAC8_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.539A>G r.(?) p.(His180Arg) Unknown - pathogenic (dominant) g.71715017T>C g.72495167T>C - - HDAC8_000051 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS CDL016P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 5i_9i c.(550+1_551-1419)_(1006-19587_1006-1)dup r.? p.(Phe336Leufs*1) Unknown - pathogenic (dominant) g.(71571689_71591275)_(71712275_71715005)dup - dup chrX:71591275-71712275 - HDAC8_000039 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (2:98) DNA SEQ - - CDLS R19H7 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 6 c.562G>A r.(?) p.(Ala188Thr) Unknown - pathogenic (dominant) g.71710845C>T g.72490995C>T - - HDAC8_000050 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (97:3) DNA SEQ - - CDLS C0007 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 6 c.562G>A r.(?) p.(Ala188Thr) Unknown - pathogenic (dominant) g.71710845C>T g.72490995C>T - - HDAC8_000050 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (98:2) DNA SEQ - - CDLS C0084 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 6 c.562G>A r.(?) p.(Ala188Thr) Unknown - pathogenic (dominant) g.71710845C>T g.72490995C>T - - HDAC8_000050 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (0:100) DNA SEQ - - CDLS CDL231P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 6 c.562G>A r.(?) p.(Ala188Thr) Unknown - pathogenic (dominant) g.71710845C>T g.72490995C>T - - HDAC8_000050 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (95:5) DNA SEQ - - CDLS R19E9 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.562G>A r.(?) p.(Ala188Thr) Maternal (confirmed) - likely pathogenic g.71710845C>T g.72490995C>T NM_018486.2:c.562G>A; p.Ala188Thr - HDAC8_000050 - PubMed: Nair 2018 - - Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing CDLS5 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+/. - c.587T>A r.(?) p.(Met196Lys) Unknown - pathogenic (dominant) g.71710820A>T g.72490970A>T 586A>T (M196K) - HDAC8_000035 - PubMed: Feng 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - - CDLS patient PubMed: Feng 2015 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.601C>T r.(?) p.(His201Tyr) Unknown - likely pathogenic g.71710806G>A - HDAC8(NM_001166419.2):c.601C>T (p.H201Y) - HDAC8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.618_628del r.spl? p.(Phe207Asnfs*3) Unknown - likely pathogenic g.71710780_71710790del g.72490930_72490940del - - HDAC8_000006 - - - - De novo - - - - - DNA SEQ-NG-IT - - CDLS5 - - - F no Italy - - - - - 1 Ilaria Parenti
?/. - c.625C>T r.(?) p.(Pro209Ser) Unknown ACMG VUS g.71710782G>A g.72490932G>A - - HDAC8_000033 ACMG: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
./. - c.667C>T r.(?) p.(Arg223Trp) Maternal (confirmed) - pathogenic g.71708853G>A g.72489003G>A - - HDAC8_000016 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.667C>T r.(?) p.(Arg223Trp) Unknown - likely pathogenic g.71708853G>A - HDAC8(NM_001166418.1):c.394C>T (p.(Arg132Trp)) - HDAC8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.688C>T r.(?) p.(Pro230Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.698A>G r.(?) p.(Asp233Gly) Unknown - pathogenic (dominant) g.71708822T>C g.72488972T>C - - HDAC8_000049 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS CDL233P PubMed: Kaiser 2014 - M - - - - - - - 1 Johan den Dunnen
+/. 8 c.706C>T r.(?) p.(Gln236*) Unknown - pathogenic (dominant) g.71708814G>A g.72488964G>A - - HDAC8_000048 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) wt expressed DNA SEQ - - CDLS CDL317P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 7 c.709G>T r.(?) p.(Asp237Tyr) Unknown - pathogenic (dominant) g.71708811C>A g.72488961C>A - - HDAC8_000047 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (16:84) DNA SEQ - - CDLS C0146 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 7 c.717_719del r.(?) p.(Lys239_Tyr240delinsAsn) Unknown - pathogenic (dominant) g.71708802_71708804del g.72488952_72488954del - - HDAC8_000046 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:1) wt expressed DNA SEQ - - CDLS CDL603P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 7 c.728T>A r.(?) p.(Ile243Asn) Unknown - pathogenic (dominant) g.71708792A>T g.72488942A>T - - HDAC8_000045 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS CDL179P PubMed: Kaiser 2014 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.737+1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.738-1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.738-1G>A r.spl? p.? Unknown - likely 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.770C>G r.(?) p.(Pro257Arg) Unknown - pathogenic g.71684549G>C g.72464699G>C - - HDAC8_000025 - - - - De novo - - - - - DNA SEQ, SEQ-NG-I Peripheral blood - epilepsy patient 1 - - F - China - - - - - 1 Jinliang Li
+?/. 8 c.770C>T r.(?) p.(Pro257Leu) Unknown - likely pathogenic g.71684549G>A g.72464699G>A - - HDAC8_000010 - - - - De novo - - - - - DNA SEQ-NG-I - - CDLS5 - - - M no Italy - - - - - 1 Ilaria Parenti
+?/. 8 c.839C>T r.(?) p.(Thr280Ile) Unknown - likely pathogenic g.71684480G>A g.72464630G>A - - HDAC8_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CDLS5 - - - F no (Germany) - - - - - 1 Ilaria Parenti
+?/. 8 c.839C>T r.(?) p.(Thr280Ile) Unknown - likely pathogenic g.71684480G>A g.72464630G>A - - HDAC8_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CDLS5 - - - M no (Germany) - 02y - - - 1 Ilaria Parenti
+?/. - c.859T>C r.(?) p.(Cys287Arg) Maternal (inferred) ACMG likely pathogenic g.71684460A>G g.72464610A>G HDAC8, NM_018468.2, c.859T>C, p.Cys287Arg - HDAC8_000070 heterozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 2_XL PubMed: Alfares 2018 - F - - - - - - - 1 LOVD
+?/. 8 c.860G>A r.(?) p.(Cys287Tyr) Unknown - likely pathogenic g.71684459C>T g.72464609C>T - - HDAC8_000012 - - - - De novo - - - - - DNA SEQ-NG-IT - - CDLS5 - - - F no Italy - - - - - 1 Ilaria Parenti
+/. 8 c.881G>A r.(?) p.(Trp294*) Unknown - pathogenic (dominant) g.71684438C>T g.72464588C>T - - HDAC8_000044 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) DNA SEQ - - CDLS CDL418P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.889G>C r.(?) p.(Ala297Pro) Unknown - likely benign g.71684430C>G - HDAC8(NM_018486.3):c.889G>C (p.A297P) - HDAC8_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.910G>A r.(?) p.(Gly304Arg) Unknown - pathogenic (dominant) g.71684409C>T g.72464559C>T - - HDAC8_000043 - PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (3:97) DNA SEQ - - CDLS R24E11 PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+?/+ 8i c.910+1G>A r.738_1005del p.Val247Phefs*38 Unknown - likely pathogenic g.71684408C>T g.72464558C>T - - HDAC8_000013 - - - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - CDLS5 - - - F no (Sweden) - - - - - 1 Ilaria Parenti
+/. 9 c.932C>T r.(?) p.(Thr311Met) Unknown - pathogenic (dominant) g.71681927G>A g.72462077G>A - - HDAC8_000042 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - random X-inactivation (59:41) DNA SEQ - - CDLS CDL279P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 9 c.932C>T r.(?) p.(Thr311Met) Unknown - pathogenic (dominant) g.71681927G>A g.72462077G>A - - HDAC8_000042 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS CDLX1249P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. - c.932C>T r.(?) p.(Thr311Met) Unknown - pathogenic g.71681927G>A - HDAC8(NM_018486.3):c.932C>T (p.T311M) - HDAC8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.932C>T r.(?) p.(Thr311Met) Unknown - pathogenic g.71681927G>A - HDAC8(NM_018486.3):c.932C>T (p.T311M) - HDAC8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957C>T r.(=) p.(=) Parent #1 - likely benign g.71681902G>A g.72462052G>A T319T - HDAC8_000023 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. 9 c.958G>A r.(?) p.(Gly320Arg) Unknown - likely pathogenic g.71681901C>T g.72462051C>T - - HDAC8_000014 - - - - De novo - - - - - DNA SEQ-NG-IT - - CDLS5 - - - M no (Spain) - - - - - 1 Ilaria Parenti
+?/. - c.958G>A r.(?) p.(Gly320Arg) Unknown - likely pathogenic g.71681901C>T g.72462051C>T - - HDAC8_000014 RNA expression only reference allele PubMed: Fieremans 2016 - - De novo - - - - skewed X-inactivation 0:1, skewed X-inactivation (7:93 pat:mat) DNA SEQ, SEQ-NG - WES ID Pat8 PubMed: Fieremans 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 9 c.958G>A r.(?) p.(Gly320Arg) Unknown - pathogenic (dominant) g.71681901C>T g.72462051C>T - - HDAC8_000014 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - var expressed DNA SEQ - - CDLS CDL426P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.958G>A r.(?) p.(Gly320Arg) Maternal (confirmed) - likely pathogenic g.71681901C>T g.72462051C>T NM_018486.2:c.958G>A; p.Gly320Arg - HDAC8_000014 - PubMed: Nair 2018 - rs398122909 Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing CDLS5 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+/. 9 c.1001A>G r.(?) p.(His334Arg) Unknown - pathogenic (dominant) g.71681858T>C g.72462008T>C - - HDAC8_000041 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - blood wt expressed/fibriblast var expressed DNA SEQ - - CDLS CDL248P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 9 c.1001A>G r.(?) p.(His334Arg) Unknown - pathogenic (dominant) g.71681858T>C g.72462008T>C - - HDAC8_000041 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - skewed X-inactivation (100:0) DNA SEQ - - CDLS CDL326AS PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
+/. 9 c.1001A>G r.(?) p.(His334Arg) Unknown - pathogenic (dominant) g.71681858T>C g.72462008T>C - - HDAC8_000041 - PubMed: Deardorff 2012, PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS CDL326P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - M - - - - - - - 1 Johan den Dunnen
+/. 10 c.1006-2A>G r.spl p.? Unknown - pathogenic (dominant) g.71571690T>C g.72351840T>C - - HDAC8_000038 - PubMed: Kaiser 2014 - - Unknown - - - - - DNA SEQ - - CDLS HD8SC1P PubMed: Kaiser 2014 - F - - - - - - - 1 Johan den Dunnen
-/. - c.*392C>G r.(=) p.(=) Unknown - benign g.71549512G>C g.72329662G>C HDAC8(NR_051952.2):n.1466C>G - HDAC8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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