Full data view for gene UNC45A

Information The variants shown are described using the NM_018671.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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     
?/. - c.254T>C r.(?) p.(Ile85Thr) Unknown - VUS g.91479518T>C - UNC45A(NM_018671.5):c.254T>C (p.(Ile85Thr)) - HDDC3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.292C>T r.(?) p.(Arg98Trp) Paternal (confirmed) - pathogenic (recessive) g.91479556C>T g.90936326C>T NM_001039675.1:c.247C>T - UNC45A_000001 - PubMed: Esteve 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 29429573-FamC PubMed: Esteve 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey - - - - - 1 Johan den Dunnen
+?/. - c.292C>T r.(?) p.(Arg98Trp) Unknown - likely pathogenic g.91479556C>T - UNC45A(NM_018671.5):c.292C>T (p.R98W) - UNC45A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.323T>C r.(?) p.(Leu108Pro) Paternal (confirmed) - VUS g.91479587T>C g.90936357T>C - - UNC45A_000015 - PubMed: Thouqan 2025 - - Germline - - - - - DNA SEQ-NG - WES ID patient PubMed: Thouqan 2025 2-generation family, 1 affected, unaffected heterozygous carrier parent M yes Palestine - - - - - 2 Johan den Dunnen
+?/. - c.323T>C r.(?) p.(Leu108Pro) Paternal (confirmed) - VUS g.91479587T>C g.90936357T>C - - UNC45A_000015 - PubMed: Thouqan 2025 - - Germline no - - - - DNA SEQ - - Healthy/Control relative PubMed: Thouqan 2025 unaffected sister (3y) F - Palestine - - - - - 1 Johan den Dunnen
?/. - c.398G>A r.(?) p.(Arg133Gln) Unknown - VUS g.91479662G>A - UNC45A(NM_018671.5):c.398G>A (p.(Arg133Gln)) - HDDC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.519+6G>A r.(=) p.(=) Unknown - likely benign g.91483059G>A - UNC45A(NM_018671.5):c.519+6G>A - HDDC3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520-5C>A r.spl? p.? Unknown - VUS g.91483531C>A - UNC45A(NM_018671.5):c.520-5C>A - HDDC3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.592C>T r.(?) p.(Gln198*) Unknown - pathogenic g.91483608C>T - UNC45A(NM_018671.5):c.592C>T (p.Q198*) - HDDC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.689C>G r.(?) p.(Thr230Arg) Both (homozygous) - pathogenic (recessive) g.91485668C>G g.90942438C>G - - UNC45A_000013 - Duclaux-Loras ESHG2020 C14.3 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam4 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
+/. - c.710T>C r.(?) p.(Leu237Pro) Both (homozygous) - pathogenic (recessive) g.91485689T>C g.90942459T>C - - UNC45A_000008 - Duclaux-Loras ESHG2020 C14.3 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
+/. - c.721C>T r.(?) p.(Arg241*) Maternal (confirmed) - pathogenic (recessive) g.91485700C>T g.90942470C>T - - UNC45A_000010 - Duclaux-Loras ESHG2020 C14.3 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.811G>T r.(?) p.(Gly271Cys) Unknown - VUS g.91485790G>T - UNC45A(NM_018671.5):c.811G>T (p.(Gly271Cys)) - HDDC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.829C>T r.(?) p.(Arg277*) Maternal (confirmed) - pathogenic (recessive) g.91485808C>T g.90942578C>T NM_001039675.1:c.784C>T - UNC45A_000006 - PubMed: Esteve 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29429573-FamA PubMed: Esteve 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - European - - - - 1 Johan den Dunnen
?/. - c.974G>A r.(?) p.(Arg325Gln) Unknown - VUS g.91486259G>A - UNC45A(NM_018671.5):c.974G>A (p.(Arg325Gln)) - HDDC3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1027+3A>G r.spl? p.? Unknown - VUS g.91486315A>G - UNC45A(NM_018671.5):c.1027+3A>G - HDDC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1028-6T>G r.(=) p.(=) Unknown - VUS g.91488116T>G - UNC45A(NM_018671.5):c.1028-6T>G - HDDC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1028G>T r.(?) p.(Gly343Val) Maternal (confirmed) - pathogenic (recessive) g.91488122G>T g.90944892G>T NM_001039675.1:c.983G>T - UNC45A_000002 - PubMed: Esteve 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 29429573-FamC PubMed: Esteve 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1085C>T r.(?) p.(Ala362Val) Unknown - likely benign g.91488179C>T g.90944949C>T UNC45A(NM_018671.3):c.1085C>T (p.(Ala362Val)) - HDDC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1092C>G r.(?) p.(Thr364=) Unknown - likely benign g.91488186C>G - - - UNC45A_000014 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1250C>T r.(?) p.(Thr417Met) Unknown - VUS g.91489894C>T - UNC45A(NM_018671.5):c.1250C>T (p.(Thr417Met)) - HDDC3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1291C>T r.(?) p.(Arg431Trp) Unknown - VUS g.91489935C>T - UNC45A(NM_018671.5):c.1291C>T (p.(Arg431Trp)) - HDDC3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1313T>A r.(?) p.(Val438Asp) Paternal (confirmed) - pathogenic (recessive) g.91489957T>A g.90946727T>A NM_001039675.1:c.1268T>A - UNC45A_000007 - PubMed: Esteve 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29429573-FamA PubMed: Esteve 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - European - - - - 1 Johan den Dunnen
?/. - c.1348C>T r.(?) p.(Gln450*) Unknown - VUS g.91489992C>T - UNC45A(NM_001039675.1):c.1303C>T (p.(Gln435*)) - HDDC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1409G>A r.(?) p.(Arg470Gln) Maternal (confirmed) - VUS g.91490053G>A g.90946823G>A - - UNC45A_000016 - PubMed: Thouqan 2025 - - Germline - - - - - DNA SEQ-NG - WES ID patient PubMed: Thouqan 2025 2-generation family, 1 affected, unaffected heterozygous carrier parent M yes Palestine - - - - - 2 Johan den Dunnen
+?/. - c.1409G>A r.(?) p.(Arg470Gln) Maternal (confirmed) - VUS g.91490053G>A g.90946823G>A - - UNC45A_000016 - PubMed: Thouqan 2025 - - Germline no - - - - DNA SEQ - - Healthy/Control relative PubMed: Thouqan 2025 unaffected sister (3y) F - Palestine - - - - - 1 Johan den Dunnen
?/. - c.1432G>C r.(?) p.(Gly478Arg) Unknown - VUS g.91490076G>C - UNC45A(NM_018671.5):c.1432G>C (p.(Gly478Arg)) - HDDC3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432G>T r.(?) p.(Gly478Cys) Unknown - VUS g.91490076G>T - UNC45A(NM_018671.3):c.1432G>T (p.(Gly478Cys)) - HDDC3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1451_1452insG r.(?) p.(Asp484Glufs*4) Paternal (confirmed) - pathogenic (recessive) g.91490095_91490096insG g.90946865_90946866insG 1452delinsGC - UNC45A_000011 - Duclaux-Loras ESHG2020 C14.3 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1591C>G r.(?) p.(Arg531Gly) Unknown - VUS g.91491116C>G - UNC45A(NM_018671.5):c.1591C>G (p.(Arg531Gly)) - HDDC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1634G>A r.(?) p.(Arg545His) Unknown - VUS g.91491410G>A - UNC45A(NM_001039675.1):c.1589G>A (p.R530H) - HDDC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1774G>C r.(?) p.(Ala592Pro) Unknown - VUS g.91491920G>C - UNC45A(NM_018671.5):c.1774G>C (p.(Ala592Pro)) - HDDC3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1788C>T r.(?) p.(=) Unknown - likely benign g.91491934C>T - UNC45A(NM_018671.5):c.1788C>T (p.(Cys596=)) - HDDC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1894G>A r.(?) p.(Val632Met) Unknown - VUS g.91492561G>A - UNC45A(NM_018671.5):c.1894G>A (p.(Val632Met)) - HDDC3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2018C>T r.(?) p.(Ala673Val) Unknown - VUS g.91492895C>T g.90949665C>T UNC45A(NM_018671.3):c.2018C>T (p.(Ala673Val)) - HDDC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2074-3C>T r.spl? p.? Unknown - likely benign g.91493381C>T - UNC45A(NM_018671.5):c.2074-3C>T - HDDC3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2102C>T r.(?) p.(Thr701Met) Unknown - VUS g.91493412C>T - UNC45A(NM_018671.5):c.2102C>T (p.(Thr701Met), p.T701M) - HDDC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2102C>T r.(?) p.(Thr701Met) Unknown - VUS g.91493412C>T - UNC45A(NM_018671.5):c.2102C>T (p.(Thr701Met), p.T701M) - HDDC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2182G>A r.(?) p.(Glu728Lys) Paternal (confirmed) - pathogenic (recessive) g.91493492G>A g.90950262G>A - - UNC45A_000009 - Duclaux-Loras ESHG2020 C14.3 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2375G>A r.(?) p.(Arg792His) Unknown - VUS g.91496230G>A - UNC45A(NM_018671.5):c.2375G>A (p.(Arg792His)) - HDDC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2512G>C r.(?) p.(Ala838Pro) Maternal (confirmed) - pathogenic (recessive) g.91496475G>C g.90953245G>C - - UNC45A_000012 - Duclaux-Loras ESHG2020 C14.3 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.2552C>T r.(?) p.(Thr851Met) Unknown - likely benign g.91496515C>T - UNC45A(NM_018671.3):c.2552C>T (p.(Thr851Met)) - HDDC3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2625C>G r.(?) p.(Asn875Lys) Unknown - likely benign g.91496736C>G - UNC45A(NM_001039675.1):c.2580C>G (p.(Asn860Lys)) - HDDC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2626C>T r.(?) p.(Gln876*) Maternal (confirmed) - pathogenic (recessive) g.91496737C>T g.90953507C>T NM_001039675.1:c.2581C>T - UNC45A_000005 - PubMed: Esteve 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? 29429573-FamB PubMed: Esteve 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F no Tunisia - - - - - 2 Johan den Dunnen
?/. - c.2642G>A r.(?) p.(Arg881Gln) Unknown - VUS g.91496753G>A - UNC45A(NM_001039675.1):c.2597G>A (p.R866Q) - HDDC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2678C>T r.(?) p.(Ser893Leu) Paternal (confirmed) - pathogenic (recessive) g.91496789C>T g.90953559C>T NM_001039675.1:c.2633C>T - UNC45A_000003 - PubMed: Esteve 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? 29429573-FamB PubMed: Esteve 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F no Tunisia - - - - - 2 Johan den Dunnen
+/. - c.2779T>G r.(?) p.(Cys927Gly) Paternal (confirmed) - pathogenic (recessive) g.91496890T>G g.90953660T>G NM_001039675.1:c.2734T>G - UNC45A_000004 - PubMed: Esteve 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? 29429573-FamB PubMed: Esteve 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F no Tunisia - - - - - 2 Johan den Dunnen
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