Full data view for gene HDAC3

Information The variants shown are described using the NM_003883.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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_15_ c.-66_*612{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_139137246)_(141702365_?)del g.(?_139757679)_(142322798_?)del hg38 139757679-142322798 - HDAC3_000009 2.57Mb deletion PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA arrayCGH - - NDD DECIPHER-4681 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_140898370)_(143853805_?)del g.(?_141518803)_(144474238_?)del hg38 141518803-144474238 - HDAC3_000009 2.96Mb deletion PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA arrayCGH - - NDD DECIPHER-307291 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_137554767)_(142594528_?)del g.(?_138175200)_(143214961_?)del hg38 138175200-143214961 - HDAC3_000009 5.04Mb deletion PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA arrayCGH - - NDD DECIPHER-253734 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non carrier parents M - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_138601427)_(145132151_?)del g.(?_139221860)_(145752584_?)del hg38 139221860-145752584 - HDAC3_000009 6.53Mb deletion PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA arrayCGH - - NDD DECIPHER-264075 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_138250704)_(145191876_?)del g.(?_138871137)_(145812309_?)del hg38 138871137-145812309 - HDAC3_000009 6.94Mb deletion PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA arrayCGH - - NDD DECIPHER-249028 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{2} r.? p.? Unknown - likely pathogenic (dominant) g.(?_140342766)_(141403085_?)dup g.(?_140963199)_(142023518_?)dup hg38 140963199-142023518 - HDAC3_000008 1.06Mb duplication PubMed: Yoon 2024, Journal: Yoon 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD DECIPHER-293879 PubMed: Yoon 2024, Journal: Yoon 2024 - F - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{2} r.? p.? Unknown - likely pathogenic (dominant) g.(?_133990638)_(143046454_?)dup g.(?_134611071)_(143666887_?)dup hg38 134611071-143666887 - HDAC3_000008 9.06Mb duplication PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA arrayCGH - - NDD DECIPHER-401315 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{2} r.? p.? Unknown - likely pathogenic (dominant) g.(?_138052973)_(149510087_?)dup g.(?_138673406)_(150130520_?)dup hg38 138673406-150130520 - HDAC3_000008 11.46Mb duplication PubMed: Yoon 2024, Journal: Yoon 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD DECIPHER-345239 PubMed: Yoon 2024, Journal: Yoon 2024 - - - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{2} r.? p.? Unknown - likely pathogenic (dominant) g.(?_140132790)_(156076574_?)dup g.(?_140753223)_(156697007_?)dup hg38 140753223-156697007 - HDAC3_000008 15.94Mb duplication PubMed: Yoon 2024, Journal: Yoon 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD DECIPHER-473002 PubMed: Yoon 2024, Journal: Yoon 2024 - F - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{2} r.? p.? Unknown - likely pathogenic (dominant) g.(?_131119795)_(149047790_?)dup g.(?_131740228)_(149668223_?)dup hg38 131740228-149668223 - HDAC3_000008 17.93Mb duplication PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA arrayCGH - - NDD DECIPHER-255372 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-66_*612{2} r.? p.? Unknown - likely pathogenic (dominant) g.(?_123895608)_(148651715_?)dup g.(?_124516041)_(149272148_?)dup hg38 124516041-149272148 - HDAC3_000008 24.76Mb duplication; mosaic PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA arrayCGH - - NDD DECIPHER-261240 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - 1 Johan den Dunnen
./. - c.-4700928_*17172511dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-2234C>T r.(?) p.(=) Unknown - likely benign g.141018591G>A g.141639024G>A RELL2(NM_001130029.1):c.317+3G>A (p.?) - RELL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277G>A r.(?) p.(Asp93Asn) Unknown - VUS g.141014382C>T g.141634815C>T HDAC3(NM_003883.3):c.277G>A (p.(Asp93Asn)) - HDAC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.277G>A r.(?) p.(Asp93Asn) Unknown ACMG likely pathogenic (dominant) g.141014382C>T g.141634815C>T - - HDAC3_000002 ACMG PS2, PM1, PM2, PP3 PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat3 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+?/. - c.328G>A r.(?) p.(Ala110Thr) Unknown ACMG likely pathogenic (dominant) g.141009646C>T g.141630079C>T - - HDAC3_000007 ACMG PS2, PM2, PP3 PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat1 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - Korea, South (Republic) Asia - - - - 1 Johan den Dunnen
+?/. - c.601C>T r.(?) p.(Pro201Ser) Unknown ACMG likely pathogenic (dominant) g.141008749G>A g.141629182G>A - - HDAC3_000006 ACMG PS2, PM1, PM2, PP3 PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat6 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - United States Europe - - - - 1 Johan den Dunnen
+?/. - c.797T>C r.(?) p.(Leu266Ser) Unknown ACMG likely pathogenic (dominant) g.141007493A>G g.141627926A>G - - HDAC3_000005 ACMG PS2, PM1, PM2, PP3 PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat4 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+?/. - c.799G>A r.(?) p.(Gly267Ser) Unknown ACMG likely pathogenic (dominant) g.141007491C>T g.141627924C>T - - HDAC3_000004 ACMG PS2, PM1, PM2, PP3 PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat5 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+?/. - c.902G>A r.(?) p.(Arg301Gln) Unknown ACMG likely pathogenic (dominant) g.141005779C>T g.141626212C>T - - HDAC3_000001 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat114 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1075C>T r.(?) p.(Arg359Cys) Unknown ACMG likely pathogenic (dominant) g.141004917G>A g.141625350G>A - - HDAC3_000003 ACMG PS2, PP2, PP3 PubMed: Yoon 2024, Journal: Yoon 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat2 PubMed: Yoon 2024, Journal: Yoon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - Korea, South (Republic) Asia - - - - 1 Johan den Dunnen
?/. - c.*2588G>A r.(=) p.(=) Unknown - VUS g.140998447C>T - - - DIAPH1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2594C>T r.(=) p.(=) Unknown - likely benign g.140998441G>A g.141618874G>A DIAPH1(NM_001079812.2):c.41C>T (p.(Thr14Ile)) - DIAPH1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2684C>T r.(=) p.(=) Unknown - benign g.140998351G>A g.141618784G>A - - DIAPH1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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