All variants in the HDAC6 gene

Information The variants shown are described using the NM_006044.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-30-4C>T r.spl? p.? - likely benign g.48661066C>T g.48802659C>T HDAC6(NM_001321226.1):c.-30-4C>T - HDAC6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.19G>A r.(?) p.(Asp7Asn) - benign g.48661118G>A g.48802711G>A HDAC6(NM_006044.3):c.19G>A (p.D7N) - HDAC6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.124C>T r.(?) p.(Arg42Cys) - VUS g.48661308C>T g.48802901C>T HDAC6(NM_006044.2):c.124C>T (p.(Arg42Cys)) - HDAC6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.176T>C r.(?) p.(Leu59Pro) - VUS g.48661360T>C g.48802953T>C HDAC6(NM_006044.2):c.176T>C (p.(Leu59Pro)) - HDAC6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.223-20del r.(=) p.(=) - VUS g.48661515del g.48803108del - - HDAC6_000013 - - - - Germline - - - - - Yu Sun
-?/. - c.475A>C r.(?) p.(Met159Leu) - likely benign g.48664812A>C g.48806405A>C HDAC6(NM_001321226.1):c.475A>C (p.M159L), HDAC6(NM_006044.2):c.475A>C (p.(Met159Leu)) - HDAC6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.475A>C r.(?) p.(Met159Leu) - likely benign g.48664812A>C g.48806405A>C HDAC6(NM_001321226.1):c.475A>C (p.M159L), HDAC6(NM_006044.2):c.475A>C (p.(Met159Leu)) - HDAC6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.494G>A r.(?) p.(Arg165His) - VUS g.48664831G>A g.48806424G>A - - HDAC6_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.513C>T r.(?) p.(Tyr171=) - benign g.48664850C>T g.48806443C>T HDAC6(NM_001321226.1):c.513C>T (p.Y171=) - HDAC6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.765C>T r.(?) p.(His255=) - likely benign g.48666692C>T - HDAC6(NM_001321226.1):c.765C>T (p.H255=) - HDAC6_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.807-59G>A r.(=) p.(=) - VUS g.48672788G>A g.48814381G>A - - HDAC6_000002 - - - - Germline - - - - - Yu Sun
?/. - c.807-59G>A r.(=) p.(=) - VUS g.48672788G>A g.48814381G>A - - HDAC6_000002 - - - - Germline - - - - - Yu Sun
?/. - c.917A>G r.(?) p.(Asn306Ser) - VUS g.48672957A>G g.48814550A>G HDAC6(NM_006044.4):c.917A>G (p.N306S) - HDAC6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.995T>G r.(?) p.(Leu332Arg) - likely benign g.48673143T>G g.48814736T>G HDAC6(NM_001321226.1):c.995T>G (p.L332R), HDAC6(NM_001321226.2):c.995T>G (p.L332R), HDAC6(NM_006044.2):c.995T>G (p.(Leu332Arg)) - HDAC6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.995T>G r.(?) p.(Leu332Arg) - likely benign g.48673143T>G g.48814736T>G HDAC6(NM_001321226.1):c.995T>G (p.L332R), HDAC6(NM_001321226.2):c.995T>G (p.L332R), HDAC6(NM_006044.2):c.995T>G (p.(Leu332Arg)) - HDAC6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.995T>G r.(?) p.(Leu332Arg) - VUS g.48673143T>G g.48814736T>G HDAC6(NM_001321226.1):c.995T>G (p.L332R), HDAC6(NM_001321226.2):c.995T>G (p.L332R), HDAC6(NM_006044.2):c.995T>G (p.(Leu332Arg)) - HDAC6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1059+9G>C r.(=) p.(=) - likely benign g.48673309G>C g.48814902G>C HDAC6(NM_001321226.1):c.1059+9G>C - HDAC6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1060-10G>A r.(=) p.(=) - likely benign g.48673359G>A g.48814952G>A HDAC6(NM_001321226.1):c.1060-10G>A - HDAC6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1071C>T r.(?) p.(Ala357=) - likely benign g.48673380C>T g.48814973C>T HDAC6(NM_006044.4):c.1071C>T (p.A357=) - HDAC6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1080G>A r.(?) p.(Pro360=) - likely benign g.48673389G>A - HDAC6(NM_001321226.1):c.1080G>A (p.P360=) - HDAC6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1121C>G r.(?) p.(Ala374Gly) - VUS g.48673430C>G g.48815023C>G HDAC6(NM_001321226.1):c.1121C>G (p.A374G) - HDAC6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1150G>A r.(?) p.(Gly384Ser) - VUS g.48673791G>A g.48815384G>A HDAC6(NM_001321226.1):c.1150G>A (p.G384S) - HDAC6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1165C>T r.(?) p.(Arg389Cys) - VUS g.48673806C>T g.48815399C>T HDAC6(NM_001321226.1):c.1165C>T (p.R389C) - HDAC6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1168G>A r.(?) p.(Ala390Thr) - likely benign g.48673809G>A g.48815402G>A HDAC6(NM_001321226.1):c.1168G>A (p.A390T) - HDAC6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1670G>A r.(?) p.(Arg557Gln) - VUS g.48674919G>A g.48816512G>A HDAC6(NM_001321226.2):c.1670G>A (p.R557Q) - HDAC6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1679A>G r.(?) p.(His560Arg) - VUS g.48674928A>G g.48816521A>G HDAC6(NM_006044.3):c.1679A>G (p.H560R) - HDAC6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1682G>A r.(?) p.(Arg561His) - VUS g.48674931G>A - HDAC6(NM_001321226.2):c.1682G>A (p.R561H) - HDAC6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1762C>T r.(?) p.(Arg588Cys) - VUS g.48675011C>T g.48816604C>T HDAC6(NM_001321226.1):c.1762C>T (p.R588C) - HDAC6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1792-75del r.(=) p.(=) - VUS g.48675658del g.48817251del - - HDAC6_000011 - - - - Germline - - - - - Yu Sun
?/. - c.1792-75del r.(=) p.(=) - VUS g.48675658del g.48817251del - - HDAC6_000011 - - - - Germline - - - - - Yu Sun
-?/. - c.1821C>T r.(?) p.(Pro607=) - likely benign g.48675762C>T g.48817355C>T HDAC6(NM_001321226.1):c.1821C>T (p.P607=) - HDAC6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1905T>C r.(?) p.(Thr635=) - likely benign g.48675846T>C g.48817439T>C HDAC6(NM_001321226.1):c.1905T>C (p.T635=) - HDAC6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1926-6C>T r.(=) p.(=) - likely benign g.48676442C>T - HDAC6(NM_001321226.1):c.1926-6C>T - HDAC6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2187+20G>A r.(=) p.(=) - VUS g.48676839G>A g.48818432G>A - - HDAC6_000007 - - - - Germline - - - - - Yu Sun
?/. - c.2187+20G>A r.(=) p.(=) - VUS g.48676839G>A g.48818432G>A - - HDAC6_000007 - - - - Germline - - - - - Yu Sun
?/. - c.2188-417T>G r.(=) p.(=) - VUS g.48678096T>G g.48819689T>G - - HDAC6_000010 - - - - Germline - - - - - Yu Sun
?/. - c.2260G>A r.(?) p.(Val754Met) - VUS g.48678585G>A - - - HDAC6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2495G>A r.(?) p.(Arg832His) - VUS g.48681187G>A g.48822777G>A - - HDAC6_000032 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.2530G>A r.(?) p.(Gly844Arg) - likely benign g.48681339G>A g.48822929G>A HDAC6(NM_001321226.1):c.2530G>A (p.G844R) - HDAC6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2699C>T r.(?) p.(Thr900Ile) - likely benign g.48681508C>T g.48823098C>T HDAC6(NM_001321226.1):c.2699C>T (p.T900I) - HDAC6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2786T>C r.(?) p.(Ile929Thr) - likely benign g.48681595T>C g.48823185T>C HDAC6(NM_001321226.1):c.2786T>C (p.I929T) - HDAC6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2788G>C r.(?) p.(Gly930Arg) - likely benign g.48681597G>C g.48823187G>C HDAC6(NM_001321226.1):c.2788G>C (p.G930R) - HDAC6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3024G>A r.(?) p.(Thr1008=) - likely benign g.48681833G>A - HDAC6(NM_001321226.1):c.3024G>A (p.T1008=) - HDAC6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3039A>G r.(?) p.(Pro1013=) - likely benign g.48681848A>G g.48823438A>G HDAC6(NM_001321226.1):c.3039A>G (p.P1013=) - HDAC6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3051G>A r.(?) p.(Glu1017=) - likely benign g.48681860G>A - HDAC6(NM_001321226.1):c.3051G>A (p.E1017=) - HDAC6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3074C>T r.(?) p.(Ser1025Leu) - VUS g.48681883C>T g.48823473C>T HDAC6(NM_006044.2):c.3074C>T (p.(Ser1025Leu)) - HDAC6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3097C>G r.(?) p.(Pro1033Ala) - likely benign g.48681906C>G g.48823496C>G HDAC6(NM_006044.2):c.3097C>G (p.(Pro1033Ala)) - HDAC6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3100A>G r.(?) p.(Thr1034Ala) - likely benign g.48681909A>G g.48823499A>G HDAC6(NM_001321226.1):c.3100A>G (p.T1034A) - HDAC6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3153G>A r.(?) p.(Gly1051=) - likely benign g.48681962G>A g.48823552G>A HDAC6(NM_001321226.1):c.3153G>A (p.G1051=) - HDAC6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3189+6G>T r.(=) p.(=) - VUS g.48682004G>T g.48823594G>T HDAC6(NM_006044.2):c.3189+6G>T (p.(=)) - HDAC6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3248G>A r.(?) p.(Gly1083Asp) - VUS g.48682140G>A g.48823730G>A - - HDAC6_000028 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.3248G>A r.(?) p.(Gly1083Asp) - likely benign g.48682140G>A g.48823730G>A HDAC6(NM_006044.4):c.3248G>A (p.G1083D) - HDAC6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3529A>T r.(?) p.(Ile1177Phe) - likely benign g.48682654A>T g.48824244A>T HDAC6(NM_006044.4):c.3529A>T (p.I1177F) - HDAC6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.3598A>G r.(?) p.(Asn1200Asp) - VUS g.48682972A>G g.48824562A>G - - HDAC6_000033 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.3637C>T r.(?) p.(His1213Tyr) - VUS g.48683011C>T g.48824601C>T HDAC6(NM_006044.2):c.3637C>T (p.(His1213Tyr)) - HDAC6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*5033G>A r.(=) p.(=) - likely benign g.48688055G>A g.48829645G>A ERAS(NM_181532.3):c.522G>A (p.G174=) - HDAC6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*5101A>G r.(=) p.(=) - likely benign g.48688123A>G g.48829713A>G ERAS(NM_181532.3):c.590A>G (p.H197R) - HDAC6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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