All variants in the UNC45B gene

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

34 entries on 1 page. Showing entries 1 - 34.
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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.183G>T r.(?) p.(Gln61His) - 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 - VKGL-NL_Utrecht
-?/. - c.206-3T>C r.spl? p.? - 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 - - - - - VKGL-NL_Leiden
-?/. - c.298G>A r.(?) p.(Val100Met) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.325C>T r.(?) p.(Arg109Trp) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.394T>C r.(?) p.(Phe132Leu) - 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 - VKGL-NL_Rotterdam
?/. - c.701A>C r.(?) p.(Asn234Thr) - VUS g.33482376A>C g.35155357A>C UNC45B(NM_001033576.2):c.701A>C (p.N234T) - UNC45B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.977A>G r.(?) p.(Asn326Ser) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1151+18C>T r.(=) p.(=) - 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 - VKGL-NL_Utrecht
-?/. - c.1389G>A r.(?) p.(Val463=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1624G>A r.(?) p.(Ala542Thr) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.1637A>T r.(?) p.(Asp546Val) - 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 - VKGL-NL_Utrecht
?/. - c.1652A>G r.(?) p.(Asp551Gly) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1734C>T r.(?) p.(Thr578=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1836+8C>A r.(=) p.(=) - 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 - VKGL-NL_Leiden
?/. - c.1907G>A r.(?) p.(Cys636Tyr) - 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 - VKGL-NL_Rotterdam
?/. - c.1921G>A r.(?) p.(Asp641Asn) - VUS g.33501345G>A - UNC45B(NM_001033576.1):c.1915G>A (p.D639N) - UNC45B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2143C>G r.(?) p.(Arg715Gly) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.2144G>A r.(?) p.(Arg715Gln) - 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 - VKGL-NL_Utrecht
?/. - c.2162G>A r.(?) p.(Arg721Gln) - 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 - VKGL-NL_Leiden
+/. - c.2261G>A r.[(2261g>a,2261_2262ins2261+1_2261+9)] p.(Arg754Gln) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18 - - Germline - - - 0 - Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262ins2261+1_2261+9)] p.(Arg754Gln) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18 - - Germline - - - 0 - Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262ins2261+1_2261+9)] p.(Arg754Gln) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18 - - Germline - - - 0 - Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262ins2261+1_2261+9)] p.(Arg754Gln) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.2261+5G>C r.spl? p.? - pathogenic (recessive) g.33504634G>C g.35177615G>C - - UNC45B_000020 - Donkervoort WMS2019, AbsO18 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.2332C>T r.(?) p.(Arg778Trp) - likely pathogenic (recessive) g.33507648C>T g.35180629C>T - - UNC45B_000021 - Donkervoort WMS2019, AbsO18 - - Germline - - - 0 - Johan den Dunnen
?/. - c.2357G>A r.(?) p.(Cys786Tyr) - 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 - VKGL-NL_Leiden
+/? 19 c.2413C>T r.(?) p.(Arg805Trp) - pathogenic g.33510479C>T g.35183460C>T - - UNC45B_000001 not in 920 control chromosomes (Denmark) Hansen et al 2014 EJHG accepted - rs370424081 Germline yes - - 0 - Lars Hansen
?/. - c.2421G>C r.(?) p.(Lys807Asn) - 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 - VKGL-NL_Rotterdam
-?/. - c.2439C>T r.(?) p.(Cys813=) - 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 - VKGL-NL_Rotterdam
-?/. - c.2499A>T r.(?) p.(Ala833=) - likely benign g.33510565A>T - UNC45B(NM_001033576.1):c.2493A>T (p.A831=) - UNC45B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2536-3C>T r.spl? p.? - 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 - VKGL-NL_Utrecht
?/. - c.2578G>A r.(?) p.(Asp860Asn) - VUS g.33513360G>A - UNC45B(NM_001033576.1):c.2572G>A (p.D858N) - UNC45B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*6971C>T r.(=) p.(=) - VUS g.33520549C>T - SLC35G3(NM_152462.2):c.778G>A (p.G260R) - UNC45B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*7064C>T r.(=) p.(=) - VUS g.33520642C>T - SLC35G3(NM_152462.2):c.685G>A (p.V229M) - UNC45B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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