Full data view for gene HSD17B3

Information The variants shown are described using the NM_000197.1 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.(?_-1163)_(154+156_?)del r.0? p.0? Maternal (confirmed) ACMG pathogenic (recessive) g.(?_99064077)_(99065549_?)del g.(?_96301795)_(96303267_?)del - - HSD17B3_000037 - - - - Germline - - - - - DNA SEQ-NG-I - - hydroxysteroid (17-beta) dehydrogenase III deficiency - - - - - - - - - - - 1 Chung, Hon Yin Brian
-/. - c.-29A>G r.(?) p.(=) Unknown - benign g.99064415T>C g.96302133T>C HSD17B3(NM_000197.2):c.-29A>G - HSD17B3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10G>C r.(?) p.(=) Unknown - benign g.99064396C>G g.96302114C>G HSD17B3(NM_000197.2):c.-10G>C - HSD17B3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88T>G r.(?) p.(Cys30Gly) Unknown - likely benign g.99064299A>C - HSD17B3(NM_000197.2):c.88T>G (p.C30G) - HSD17B3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.91G>A r.(?) p.(Val31Ile) Unknown - benign g.99064296C>T g.96302014C>T HSD17B3(NM_000197.2):c.91G>A (p.V31I) - HSD17B3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown - VUS g.99064254G>A g.96301972G>A HSD17B3(NM_000197.2):c.133C>T (p.R45W, p.(Arg45Trp)) - HSD17B3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.133C>T r.(?) p.(Arg45Trp) Maternal (confirmed) - likely pathogenic g.99064254G>A g.96301972G>A - 46,XY HSD17B3_000013 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat224 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.99064254G>A - HSD17B3(NM_000197.2):c.133C>T (p.R45W, p.(Arg45Trp)) - HSD17B3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.99064254G>A - HSD17B3(NM_000197.2):c.133C>T (p.R45W, p.(Arg45Trp)) - HSD17B3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139A>G r.(?) p.(Met47Val) Unknown - VUS g.99064248T>C g.96301966T>C HSD17B3(NM_000197.2):c.139A>G (p.M47V) - HSD17B3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139A>G r.(?) p.(Met47Val) Both (homozygous) - VUS g.99064248T>C g.96301966T>C - 46,XY HSD17B3_000012 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat243 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.139A>G r.(?) p.(Met47Val) Maternal (confirmed) - pathogenic g.99064248T>C g.96301966T>C - 46,XY HSD17B3_000012 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat45 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.139A>G r.(?) p.(Met47Val) Unknown - likely pathogenic g.99064248T>C - - - HSD17B3_000012 - - - rs191153391 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.139A>G r.(?) p.(Met47Val) Maternal (confirmed) ACMG pathogenic (recessive) g.99064248T>C g.96301966T>C - - HSD17B3_000012 - - - - Germline - - - - - DNA SEQ-NG - - DSD - - - M no Japan - - - - - 1 Yohei Masunaga
?/. 1 c.139A>G r.139A>G p.Met47Val Unknown - VUS g.99064248T>C g.96301966T>C - - HSD17B3_000012 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-/. - c.154+30dup r.(=) p.(=) Unknown - benign g.99064209dup g.96301927dup HSD17B3(NM_000197.2):c.154+30dupT - HSD17B3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179T>C r.(?) p.(Ile60Thr) Unknown - VUS g.99060720A>G g.96298438A>G - - HSD17B3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.188C>T r.(?) p.(Ala63Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.99060711G>A g.96298429G>A - - HSD17B3_000031 - - - - Germline - - - - - DNA SEQ-NG blood - DSD - - - M no Japan - - - - - 1 Yohei Masunaga
+?/. - c.191A>G r.(?) p.(Tyr64Cys) Both (homozygous) - likely pathogenic g.99060708T>C g.96298426T>C - 46,XY HSD17B3_000022 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat246 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Ser65Leu) Unknown - pathogenic g.99060705G>A g.96298423G>A HSD17B3(NM_000197.2):c.194C>T (p.S65L) - HSD17B3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194C>T r.(?) p.(Ser65Leu) Paternal (confirmed) ACMG pathogenic g.99060705G>A g.96298423G>A - - HSD17B3_000011 - - - - Germline - - - - - DNA SEQ-NG blood - DSD - - - M no Japan - - - - - 1 Yohei Masunaga
-/. - c.195G>A r.(?) p.(Ser65=) Unknown - benign g.99060704C>T g.96298422C>T HSD17B3(NM_000197.2):c.195G>A (p.S65=) - HSD17B3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.199G>A r.(?) p.(Glu67Lys) Unknown - likely pathogenic g.99060700C>T - - - HSD17B3_000030 - - - rs1017003712 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.202-1G>A r.spl p.? Unknown ACMG pathogenic g.99017226C>T g.96254944C>T - - HSD17B3_000036 ACMG PM3, PVS1, PM2, PP5; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat51 PubMed: Horbacz 2025 patient, affected mother and father F - Poland - - - - - 1 Johan den Dunnen
+/. - c.210del r.(?) p.(Lys70Asnfs*16) Both (homozygous) - pathogenic g.99017220del g.96254938del - 46,XY HSD17B3_000021 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat66 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.221A>C r.(?) p.(Asn74Thr) Unknown - pathogenic g.99017206T>G g.96254924T>G HSD17B3(NM_000197.2):c.221A>C (p.N74T) - HSD17B3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.221A>C r.(?) p.(Asn74Thr) Unknown - likely pathogenic g.99017206T>G - - - HSD17B3_000009 - - - rs780178733 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.238C>T r.(?) p.(Arg80Trp) Both (homozygous) - likely pathogenic g.99017189G>A g.96254907G>A - 46,XY HSD17B3_000020 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat81 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
+?/. - c.238C>T r.(?) p.(Arg80Trp) Parent #1 - likely pathogenic g.99017189G>A g.96254907G>A - - HSD17B3_000020 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs119481077 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.239G>A r.(?) p.(Arg80Gln) Unknown - pathogenic g.99017188C>T g.96254906C>T HSD17B3(NM_000197.2):c.239G>A (p.R80Q) - HSD17B3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.239G>A r.(?) p.(Arg80Gln) Both (homozygous) - pathogenic g.99017188C>T g.96254906C>T - 46,XY HSD17B3_000008 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat132 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.277+4A>T r.spl? p.? Unknown - pathogenic g.99017146T>A g.96254864T>A HSD17B3(NM_000197.2):c.277+4A>T - HSD17B3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.277+4A>T r.(?) p.(?) Unknown - pathogenic g.99017146T>A - - - HSD17B3_000007 - - - rs201115371 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.277+4A>T r.spl? p.? Unknown - pathogenic g.99017146T>A - HSD17B3(NM_000197.2):c.277+4A>T - HSD17B3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277+5G>A r.spl? p.? Unknown - VUS g.99017145C>T g.96254863C>T HSD17B3(NM_000197.2):c.277+5G>A - HSD17B3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.278-1G>C r.spl? p.? Unknown - pathogenic g.99015193C>G g.96252911C>G HSD17B3(NM_000197.2):c.278-1G>C - HSD17B3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.278-1G>C r.spl? p.? Unknown - pathogenic g.99015193C>G - HSD17B3(NM_000197.2):c.278-1G>C - HSD17B3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.278-1G>C r.spl? p.? Unknown - pathogenic g.99015193C>G - HSD17B3(NM_000197.2):c.278-1G>C - HSD17B3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.383T>C r.(?) p.(Leu128Ser) Both (homozygous) - likely pathogenic g.99015087A>G g.96252805A>G - 46,XY HSD17B3_000019 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat255 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.389A>G r.(?) p.(Asn130Ser) Parent #1 - pathogenic g.99013764T>C g.96251482T>C - - HSD17B3_000026 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs119481079 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. - c.389A>G r.(?) p.(Asn130Ser) Paternal (confirmed) ACMG likely pathogenic (recessive) g.99013764T>C g.96251482T>C - - HSD17B3_000026 - - ClinVar-4880 - Germline - - - - - DNA SEQ-NG-I - - hydroxysteroid (17-beta) dehydrogenase III deficiency - - - - - - - - - - - 1 Chung, Hon Yin Brian
+/. - c.414_416del r.(?) p.(Leu139del) Both (homozygous) - pathogenic g.99013739_99013741del g.96251457_96251459del - 46,XY HSD17B3_000018 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat67 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.490-6T>C r.(?) p.(?) Unknown - likely pathogenic g.99008878A>G - - - HSD17B3_000029 - - - rs1230867519 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527A>C r.(?) p.(Gln176Pro) Unknown - VUS g.99007706T>G - HSD17B3(NM_000197.2):c.527A>C (p.(Gln176Pro)) - HSD17B3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.645A>T r.(?) p.(Glu215Asp) Paternal (confirmed) - pathogenic g.99006638T>A g.96244356T>A - 46,XY HSD17B3_000017 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat45 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.645A>T r.(?) p.(Glu215Asp) Paternal (confirmed) - likely pathogenic g.99006638T>A g.96244356T>A - 46,XY HSD17B3_000017 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat224 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.672+1G>A r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.99006610C>T g.96244328C>T - - HSD17B3_000032 - - - - Germline - - - - - DNA SEQ-NG - - DSD - - - M no Japan - - - - - 1 Yohei Masunaga
+/. - c.695C>T r.(?) p.(Ser232Leu) Unknown - pathogenic g.99003167G>A - - - HSD17B3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.704T>C r.(?) p.(Met235Thr) Unknown - VUS g.99003158A>G g.96240876A>G HSD17B3(NM_000197.2):c.704T>C (p.(Met235Thr), p.M235T) - HSD17B3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.704T>C r.(?) p.(Met235Thr) Unknown - likely pathogenic g.99003158A>G - HSD17B3(NM_000197.2):c.704T>C (p.(Met235Thr), p.M235T) - HSD17B3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.761_762del r.(?) p.(Glu254ValfsTer10) Unknown - pathogenic g.99003102_99003103del g.96240820_96240821del HSD17B3(NM_000197.2):c.761_762delAG (p.E254Vfs*10) - HSD17B3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.804C>T r.(?) p.(=) Unknown - benign g.99003058G>A - HSD17B3(NM_000197.2):c.804C>T (p.(Cys268=)) - HSD17B3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.822G>A r.(?) p.(=) Unknown - likely pathogenic g.99003040C>T - HSD17B3(NM_000197.2):c.822G>A (p.L274=) - HSD17B3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.823-67_823-59del r.(=) p.(=) Unknown - benign g.98997916_98997924del g.96235634_96235642del HSD17B3(NM_000197.2):c.823-67_823-59delCCACAAAGA - HSD17B3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.845C>T r.(?) p.(Pro282Leu) Unknown - pathogenic g.98997830G>A g.96235548G>A HSD17B3(NM_000197.2):c.845C>T (p.P282L) - HSD17B3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.865G>A r.(?) p.(Gly289Ser) Unknown - benign g.98997810C>T g.96235528C>T HSD17B3(NM_000197.2):c.865G>A (p.G289S) - HSD17B3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.865G>A r.(?) p.(Gly289Ser) Unknown - benign g.98997810C>T g.96235528C>T HSD17B3(NM_000197.2):c.865G>A (p.G289S) - HSD17B3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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