Full data view for gene HSD17B10

Information The variants shown are described using the NM_004493.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Methylation     

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./. - c.-219896_*9019dup r.0 p.0 Maternal (confirmed) - pathogenic g.53449333_53681188dup - - - HSD17B10_000011 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-?/. - c.12G>A r.(?) p.(Ala4=) Unknown - likely benign g.53461281C>T g.53434334C>T HSD17B10(NM_004493.2):c.12G>A (p.A4=) - HSD17B10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.13T>C r.(?) p.(Cys5Arg) Unknown - likely benign g.53461280A>G - HSD17B10(NM_004493.3):c.13T>C (p.(Cys5Arg)) - HSD17B10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137G>T r.(?) p.(Gly46Val) Unknown - likely benign g.53460724C>A g.53433777C>A HSD17B10(NM_004493.2):c.137G>T (p.G46V) - HSD17B10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192+19C>T r.(=) p.(=) Unknown - likely benign g.53460650G>A - HSD17B10(NM_004493.3):c.192+19C>T - HSD17B10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.194T>C r.(?) p.Val65Ala Maternal (confirmed) - pathogenic g.53459358A>G g.53432410A>G - - HSD17B10_000010 valine residue interacts with the adenine ring of the coenzyme NAD+; Val65 extremely conserved in HSD10 {PMID:Seaver LH et al. 2011}22132097 - - Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Seaver LH 2011 mixed ancestry (Portual, Hawaii, Japan, China) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.257A>G r.(?) p.Asp86Gly Unknown - pathogenic g.53459295T>C g.53432347T>C - - HSD17B10_000002 abnormal protein structure PubMed: Rauschenberger et al. 2010 - - Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Rauschenberger 2010, Case 1 - M ? Germany - 00y06m - - - 1 Division of Human Genetics, Innsbruck
+/. - c.277G>A r.(?) p.(Gly93Ser) Unknown - pathogenic g.53459275C>T g.53432327C>T HSD17B10(NM_004493.2):c.277G>A (p.G93S) - HSD17B10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278G>A r.(?) p.(Gly93Asp) Unknown - VUS g.53459274C>T - - - HSD17B10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.284C>T r.(?) p.(Ala95Val) Unknown - VUS g.53459268G>A g.53432320G>A - - HSD17B10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285G>A r.(?) p.(Ala95=) Unknown - likely benign g.53459267C>T - HSD17B10(NM_004493.2):c.285G>A (p.A95=) - HSD17B10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.329C>T r.(?) p.(Thr110Ile) Unknown - VUS g.53459223G>A - HSD17B10(NM_004493.3):c.329C>T (p.T110I) - HSD17B10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347G>A r.(?) p.(Arg116Gln) Unknown - VUS g.53459205C>T g.53432257C>T HSD17B10(NM_004493.2):c.347G>A (p.R116Q), HSD17B10(NM_004493.3):c.347G>A (p.R116Q) - HSD17B10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347G>A r.(?) p.(Arg116Gln) Unknown - VUS g.53459205C>T - HSD17B10(NM_004493.2):c.347G>A (p.R116Q), HSD17B10(NM_004493.3):c.347G>A (p.R116Q) - HSD17B10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347G>A r.(?) p.(Arg116Gln) Unknown - likely benign g.53459205C>T - HSD17B10(NM_004493.2):c.347G>A (p.R116Q), HSD17B10(NM_004493.3):c.347G>A (p.R116Q) - HSD17B10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347G>A r.(?) p.(Arg116Gln) Unknown - likely benign g.53459205C>T - HSD17B10(NM_004493.2):c.347G>A (p.R116Q), HSD17B10(NM_004493.3):c.347G>A (p.R116Q) - HSD17B10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.364C>G r.(?) p.Leu122Val Unknown - pathogenic g.53459058G>C g.53432110G>C - - HSD17B10_000005 missense PubMed: Ofman et al. 2003 - rs28935476 Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Poll-The 2004 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.364C>G r.(?) p.(Leu122Val) Maternal (confirmed) - VUS g.53459058G>C g.53432110G>C - - HSD17B10_000005 associated with elevation of urinary 2-methyl-3-hydroxybutyric acid and tiglylglycine, but no clear neurological phenotype that is not explained by a de novo SPAST variant - 11443 - Germline - - - - - DNA SEQ-NG - WES HSD10MD, SPG4 Fam1PatII1 PubMed: Waters 2019 2-generation pedigree (1 affected male), unaffected heterozygous mother M - Canada French-Canadian >11y - yes - 1 Sebastien Levesque
?/. - c.364C>G r.(?) p.(Leu122Val) Maternal (confirmed) - VUS g.53459058G>C g.53432110G>C - - HSD17B10_000005 - PubMed: Waters 2019 - - Germline yes - - - - DNA SEQ - - HSD10MD Fam2Pat PubMed: Waters 2019 3-generation family, 2 affected (2M), unaffected carrier mother/grandmother M - Canada - - - - - 2 Johan den Dunnen
?/. - c.364C>G r.(?) p.(Leu122Val) Maternal (confirmed) - VUS g.53459058G>C g.53432110G>C - - HSD17B10_000005 - PubMed: Waters 2019 - - Germline - - - - - DNA SEQ - - EA Fam3 PubMed: Waters 2019 3-generation family, affected father/daugther F - Canada - - - - - 2 Johan den Dunnen
?/. - c.364C>G r.(?) p.(Leu122Val) Maternal (confirmed) - VUS g.53459058G>C g.53432110G>C - - HSD17B10_000005 - PubMed: Waters 2019 - - Germline - - - - - DNA SEQ - - HSD10MD Fam4Pat 3-generation family, 1 affected males, heterozygous unaffected mother/grandmother - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.364C>G r.(?) p.(Leu122Val) Unknown - pathogenic g.53459058G>C - - - HSD17B10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.388C>T r.(?) p.Arg130Cys Maternal (confirmed) - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 De novo ? - - - - DNA SEQ - - HSD10MD - PubMed: Ensenauer 2002, Patient 2; PubMed: Ofman 2003, Patient 3 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Unknown - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure; no variants 2nd X-chromosome PubMed: Ofman et al. 2003 - rs28935475 De novo ? - - - - DNA SEQ - - HSD10MD - PubMed: Ensenauer 2002, Patient 1; PubMed: Ofman 2003, Patient 2 - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Maternal (confirmed) - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 Unknown ? - - - - DNA SEQ - - HSD10MD - Submitted by J. Zschocke - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Unknown - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 De novo ? - - - - DNA SEQ - - HSD10MD - Submitted by J. Zschocke - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Unknown - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Perez-Cerda 2005, Patient 3 - M ? - - 01y06m - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Maternal (confirmed) - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: García-Villoria 2009, Patient 4 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Maternal (confirmed) - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 De novo ? - - - - DNA SEQ - - HSD10MD - PubMed: Zschocke 2000, PubMed: Ofman 2003, Patient 1 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Maternal (confirmed) - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Sass 2004, PubMed: Ofman 2003, Patient 4 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Maternal (inferred) - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Sutton 2003 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.388C>T r.(?) p.Arg130Cys Maternal (confirmed) - pathogenic g.53459034G>A g.53432086G>A - - HSD17B10_000001 abnormal protein structure PubMed: Ofman et al. 2003 - rs28935475 Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Cazorla 2007 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.388C>T r.(?) p.(Arg130Cys) Unknown - pathogenic g.53459034G>A g.53432086G>A HSD17B10(NM_004493.3):c.388C>T (p.R130C) - HSD17B10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.389G>A r.(?) p.(Arg130His) Unknown - likely pathogenic g.53459033C>T - HSD17B10(NM_004493.3):c.389G>A (p.R130H) - HSD17B10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.439C>T r.(?) p.(Arg147Cys) Unknown - likely pathogenic g.53458983G>A g.53432035G>A HSD17B10(NM_004493.3):c.439C>T (p.R147C) - HSD17B10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.495A>C r.(?) p.Gln165His Maternal (confirmed) - pathogenic g.53458846T>G g.53431898T>G - - HSD17B10_000003 absent enzyme activity PubMed: Rauschenberger et al. 2010 - - Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Rauschenberger 2010, Case 2 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.524T>C r.(?) p.(Ile175Thr) Unknown - likely pathogenic (!) g.53458817A>G - - - HSD17B10_000025 - - - - De novo - - - - - DNA SEQ-NG - WES HSD10MD, ID 189P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
-?/? 5 c.574C>A r.(?) p.(Arg192=) Parent #1 - likely benign g.53458767G>T g.53431819G>T R192R - HSD17B10_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 208 Johan den Dunnen
+/+ 5 c.574C>A r.(=) p.(=) Maternal (confirmed) - pathogenic g.53458767G>T g.53431819G>T R192R - HSD17B10_000009 reduced expression of normal protein PubMed: Lenski et al. 2007 - - Unknown ? - - - - DNA RT-PCR, SEQ - - MRXS10 - PubMed: Reyniers 1999, PubMed: Lenski 2007, Patient IV-1 - M ? Luxembourg - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 5 c.574C>A r.(=) p.(=) Unknown - pathogenic g.53458767G>T g.53431819G>T R192R - HSD17B10_000009 reduced expression of normal protein PubMed: Lenski et al. 2007 - - Unknown ? - - - - DNA SEQ - - MRXS10 - PubMed: Tarpey 2009 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.595+13C>T r.(=) p.(=) Unknown - likely benign g.53458733G>A g.53431785G>A HSD17B10(NM_004493.2):c.595+13C>T - HSD17B10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596-6_596-3dup r.spl? p.? Unknown - VUS g.53458547_53458550dup - HSD17B10(NM_004493.3):c.596-6_596-3dup - HSD17B10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.628C>T r.(?) p.Pro210Ser Maternal (confirmed) - likely pathogenic g.53458510G>A g.53431562G>A - - HSD17B10_000004 missense PubMed: García-Villoria et al. 2009 - - Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: García-Villoria 2009, Patient 6 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.628C>T r.(?) p.Pro210Ser Maternal (confirmed) - pathogenic g.53458510G>A g.53431562G>A - - HSD17B10_000004 missense PubMed: García-Villoria et al. 2009 - - Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: García-Villoria 2009, Patient 3 - M ? - - 00y04m - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.677G>A r.(?) p.Arg226Gln Maternal (inferred) - pathogenic g.53458461C>T g.53431513C>T - - HSD17B10_000008 - PubMed: García-Villoria et al. 2009 - - De novo ? - - - - DNA SEQ - - HSD10MD - PubMed: García-Villoria 2009, Patient 5 - M ? - - 00y07m - - - 1 Division of Human Genetics, Innsbruck
?/. - c.703C>T r.(?) p.(His235Tyr) Unknown - VUS g.53458435G>A - HSD17B10(NM_004493.2):c.703C>T (p.H235Y) - HSD17B10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.740A>G r.(?) p.Asn247Ser Maternal (confirmed) - pathogenic g.53458398T>C g.53431450T>C - - HSD17B10_000006 no variants 2nd X-chromosome PubMed: Perez-Cerda et al. 2005 - - Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Perez-Cerda 2005, Patient 1 - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.740A>G r.(?) p.Asn247Ser Unknown - pathogenic g.53458398T>C g.53431450T>C - - HSD17B10_000006 - PubMed: Perez-Cerda et al. 2005 - - Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Perez-Cerda 2005, Patient 2 - M ? - - 00y02m - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.745G>C r.(?) p.Glu249Gln Unknown - pathogenic g.53458393C>G g.53431445C>G - - HSD17B10_000007 - Submitted by J. Zschocke - rs62626305 Unknown ? - - - - DNA SEQ - - HSD10MD - PubMed: Olpin 2002 - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.*437C>G r.(=) p.(=) Unknown - likely benign g.53457915G>C - RIBC1(NM_001031745.3):c.1119G>C (p.(Gln373His)) - HSD17B10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*659C>A r.(=) p.(=) Unknown - VUS g.53457693G>T g.53430745G>T RIBC1(NM_001031745.4):c.1013G>T (p.G338V) - RIBC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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