Full data view for gene UNC45B

Information The variants shown are described using the NM_173167.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.87C>T r.(?) p.(Tyr29=) Unknown - likely benign g.33475369C>T - UNC45B(NM_001033576.1):c.87C>T (p.Y29=) - UNC45B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183G>T r.(?) p.(Gln61His) Unknown - likely benign g.33476006G>T g.35148987G>T UNC45B(NM_173167.3):c.183G>T (p.Q61H) - UNC45B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.206-3T>C r.spl? p.? Unknown - likely benign g.33477064T>C g.35150045T>C UNC45B(NM_001033576.1):c.206-3T>C (p.?) - UNC45B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.298G>A r.(?) p.(Val100Met) Unknown - likely benign g.33477159G>A g.35150140G>A UNC45B(NM_001033576.1):c.298G>A (p.V100M) - UNC45B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312C>T r.(?) p.(Ala104=) Unknown - likely benign g.33477173C>T - UNC45B(NM_001033576.1):c.312C>T (p.A104=) - UNC45B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.325C>T r.(?) p.(Arg109Trp) Unknown - VUS g.33477186C>T g.35150167C>T UNC45B(NM_001033576.1):c.325C>T (p.R109W) - UNC45B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394T>C r.(?) p.(Phe132Leu) Unknown - VUS g.33479924T>C g.35152905T>C UNC45B(NM_001033576.1):c.394T>C (p.F132L) - UNC45B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.694G>A r.(?) p.(Val232Met) Unknown - VUS g.33482369G>A - UNC45B(NM_001033576.1):c.694G>A (p.V232M) - UNC45B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701A>C r.(?) p.(Asn234Thr) Unknown - VUS g.33482376A>C - UNC45B(NM_001033576.2):c.701A>C (p.N234T) - UNC45B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.977A>G r.(?) p.(Asn326Ser) Unknown - likely benign g.33486562A>G g.35159543A>G UNC45B(NM_001033576.1):c.977A>G (p.N326S) - UNC45B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1151+18C>T r.(=) p.(=) Unknown - likely benign g.33491203C>T g.35164184C>T UNC45B(NM_001033576.1):c.1151+18C>T - UNC45B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1207T>C r.(?) p.(Ser403Pro) Maternal (confirmed) - likely pathogenic (recessive) g.33495135T>C - - - UNC45B_000032 - Journal: Donkervoort 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MYOP Pat9 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy Sicily - 0 - - 1 Johan den Dunnen
-?/. - c.1389G>A r.(?) p.(Val463=) Unknown - likely benign g.33495317G>A g.35168298G>A UNC45B(NM_001033576.1):c.1389G>A (p.V463=) - UNC45B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1540T>C r.(?) p.(Cys514Arg) Both (homozygous) - pathogenic (recessive) g.33496943T>C - - - UNC45B_000033 - Journal: Donkervoort 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MYOP Pat10 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - - 0 - - 1 Johan den Dunnen
-?/. - c.1624G>A r.(?) p.(Ala542Thr) Unknown - likely benign g.33497209G>A g.35170190G>A UNC45B(NM_001033576.1):c.1624G>A (p.(Ala542Thr)) - UNC45B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1637A>T r.(?) p.(Asp546Val) Unknown - likely benign g.33497222A>T g.35170203A>T UNC45B(NM_001033576.1):c.1637A>T (p.D546V) - UNC45B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1652A>G r.(?) p.(Asp551Gly) Unknown - VUS g.33497237A>G g.35170218A>G UNC45B(NM_001033576.1):c.1652A>G (p.D551G) - UNC45B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1734C>T r.(?) p.(Thr578=) Unknown - likely benign g.33498379C>T g.35171360C>T UNC45B(NM_001033576.1):c.1728C>T (p.T576=) - UNC45B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1836+8C>A r.(=) p.(=) Unknown - VUS g.33498489C>A g.35171470C>A UNC45B(NM_001033576.1):c.1830+8C>A (p.(=)) - UNC45B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1907G>A r.(?) p.(Cys636Tyr) Unknown - VUS g.33501331G>A g.35174312G>A UNC45B(NM_001033576.1):c.1901G>A (p.C634Y) - UNC45B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1921G>A r.(?) p.(Asp641Asn) Unknown - VUS g.33501345G>A - UNC45B(NM_001033576.1):c.1915G>A (p.D639N) - UNC45B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2143C>G r.(?) p.(Arg715Gly) Unknown - likely benign g.33504147C>G g.35177128C>G UNC45B(NM_001033576.1):c.2137C>G (p.R713G) - UNC45B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2144G>A r.(?) p.(Arg715Gln) Unknown - likely benign g.33504148G>A g.35177129G>A UNC45B(NM_001033576.1):c.2138G>A (p.R713Q) - UNC45B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2162G>A r.(?) p.(Arg721Gln) Unknown - VUS g.33504530G>A g.35177511G>A UNC45B(NM_001033576.1):c.2156G>A (p.(Arg719Gln)) - UNC45B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MYOP Pat1 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Puerto Rico Hispanic - 0 - - 1 Johan den Dunnen
+/. - c.2261G>A r.[2261g>a,2261_2262insgugagugug] p.[Arg754Gln,Arg754Glnfs*2] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP Pat3 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.2261G>A r.[2261g>a,2261_2262insgugagugug] p.[Arg754Gln,Arg754Glnfs*2] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP Pat4 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MYOP Pat5 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Journal: Donkervoort 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MYOP Pat6 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - 0 - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Journal: Donkervoort 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MYOP Pat7 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - 0 - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Journal: Donkervoort 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MYOP Pat8 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - 0 - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Paternal (confirmed) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MYOP Pat9 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy Sicily - 0 - - 1 Johan den Dunnen
+?/. - c.2261+5G>C r.2261_2262insgugacugug p.Arg754Glnfs*2 Maternal (confirmed) - pathogenic (recessive) g.33504634G>C g.35177615G>C - - UNC45B_000020 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP Pat2 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Hispanic - 0 - - 1 Johan den Dunnen
+?/. - c.2332C>T r.2332c>u p.Arg778Trp Paternal (confirmed) - likely pathogenic (recessive) g.33507648C>T g.35180629C>T - - UNC45B_000021 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP Pat2 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Hispanic - 0 - - 1 Johan den Dunnen
?/. - c.2357G>A r.(?) p.(Cys786Tyr) Unknown - VUS g.33507673G>A g.35180654G>A UNC45B(NM_001033576.1):c.2351G>A (p.(Cys784Tyr)) - UNC45B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 19 c.2413C>T r.(?) p.(Arg805Trp) Unknown - pathogenic (dominant) g.33510479C>T g.35183460C>T - - UNC45B_000001 not in 920 control chromosomes (Denmark) PubMed: Hansen 2014, Journal: Hansen 2014 - rs370424081 Germline yes - - 0 - DNA PCRdig, SEQ-NG-I - - CTRCT FamPatI1 PubMed: Hansen 2014, Journal: Hansen 2014 3-generation family, 9 affected (5F, 4M) F no Denmark Danish - 0 - - 9 Lars Hansen
?/. - c.2421G>C r.(?) p.(Lys807Asn) Unknown - VUS g.33510487G>C g.35183468G>C UNC45B(NM_001033576.1):c.2415G>C (p.K805N) - UNC45B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2439C>T r.(?) p.(Cys813=) Unknown - likely benign g.33510505C>T g.35183486C>T UNC45B(NM_001033576.1):c.2433C>T (p.C811=) - UNC45B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2499A>T r.(?) p.(Ala833=) Unknown - likely benign g.33510565A>T - UNC45B(NM_001033576.1):c.2493A>T (p.A831=) - UNC45B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2536-3C>T r.spl? p.? Unknown - likely benign g.33513315C>T g.35186296C>T UNC45B(NM_173167.3):c.2536-3C>T - UNC45B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2578G>A r.(?) p.(Asp860Asn) Unknown - VUS g.33513360G>A - UNC45B(NM_001033576.1):c.2572G>A (p.D858N) - UNC45B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6971C>T r.(=) p.(=) Unknown - VUS g.33520549C>T - SLC35G3(NM_152462.2):c.778G>A (p.G260R) - UNC45B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7064C>T r.(=) p.(=) Unknown - VUS g.33520642C>T - SLC35G3(NM_152462.2):c.685G>A (p.V229M) - UNC45B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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