Unique variants in the HSD17B3 gene

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

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Reported     

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     
-/. 1 - c.-29A>G r.(?) p.(=) - benign g.99064415T>C g.96302133T>C HSD17B3(NM_000197.2):c.-29A>G - HSD17B3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-10G>C r.(?) p.(=) - benign g.99064396C>G g.96302114C>G HSD17B3(NM_000197.2):c.-10G>C - HSD17B3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.88T>G r.(?) p.(Cys30Gly) - likely benign g.99064299A>C - HSD17B3(NM_000197.2):c.88T>G (p.C30G) - HSD17B3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.91G>A r.(?) p.(Val31Ile) - 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 - - - - - VKGL-NL_Rotterdam
+?/., ?/. 3 - c.133C>T r.(?) p.(Arg45Trp) - likely pathogenic, VUS g.99064254G>A g.96301972G>A HSD17B3(NM_000197.2):c.133C>T (p.R45W) 46,XY HSD17B3_000013 VKGL data sharing initiative Nederland PubMed: Eggers 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., +?/., ?/. 6 1 c.139A>G r.(?), r.139A>G p.(Met47Val), p.Met47Val ACMG likely pathogenic, pathogenic, pathogenic (recessive), VUS g.99064248T>C g.96301966T>C HSD17B3(NM_000197.2):c.139A>G (p.M47V) 46,XY HSD17B3_000012 no effect on RNA, VKGL data sharing initiative Nederland PubMed: Eggers 2016 - rs191153391 CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, Yohei Masunaga, MobiDetails, Tjakko van Ham
-/. 1 - c.154+30dup r.(=) p.(=) - benign g.99064209dup g.96301927dup HSD17B3(NM_000197.2):c.154+30dupT - HSD17B3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.179T>C r.(?) p.(Ile60Thr) - VUS g.99060720A>G g.96298438A>G - - HSD17B3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.188C>T r.(?) p.(Ala63Val) ACMG likely pathogenic (recessive) g.99060711G>A g.96298429G>A - - HSD17B3_000031 - - - - Germline - - - - - Yohei Masunaga
+?/. 1 - c.191A>G r.(?) p.(Tyr64Cys) - likely pathogenic g.99060708T>C g.96298426T>C - 46,XY HSD17B3_000022 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.194C>T r.(?) p.(Ser65Leu) ACMG 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, Germline - - - - - VKGL-NL_Rotterdam, Yohei Masunaga
-/. 1 - c.195G>A r.(?) p.(Ser65=) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.199G>A r.(?) p.(Glu67Lys) - likely pathogenic g.99060700C>T - - - HSD17B3_000030 - - - rs1017003712 Unknown - - - - - MobiDetails
+/. 1 - c.210del r.(?) p.(Lys70Asnfs*16) - pathogenic g.99017220del g.96254938del - 46,XY HSD17B3_000021 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 - c.221A>C r.(?) p.(Asn74Thr) - likely pathogenic, pathogenic g.99017206T>G g.96254924T>G HSD17B3(NM_000197.2):c.221A>C (p.N74T) - HSD17B3_000009 VKGL data sharing initiative Nederland - - rs780178733 CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, MobiDetails
+?/. 2 - c.238C>T r.(?) p.(Arg80Trp) - likely pathogenic g.99017189G>A g.96254907G>A - 46,XY HSD17B3_000020 1 heterozygous, no homozygous; Clinindb (India) PubMed: Eggers 2016, PubMed: Narang 2020, Journal: Narang 2020 - rs119481077 Germline - 1/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
+/. 2 - c.239G>A r.(?) p.(Arg80Gln) - pathogenic g.99017188C>T g.96254906C>T HSD17B3(NM_000197.2):c.239G>A (p.R80Q) 46,XY HSD17B3_000008 VKGL data sharing initiative Nederland PubMed: Eggers 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 3 - c.277+4A>T r.(?), r.spl? p.(?), p.? - pathogenic g.99017146T>A g.96254864T>A HSD17B3(NM_000197.2):c.277+4A>T - HSD17B3_000007 VKGL data sharing initiative Nederland - - rs201115371 CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, MobiDetails
?/. 1 - c.277+5G>A r.spl? p.? - VUS g.99017145C>T g.96254863C>T HSD17B3(NM_000197.2):c.277+5G>A - HSD17B3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - c.278-1G>C r.spl? p.? - pathogenic g.99015193C>G g.96252911C>G HSD17B3(NM_000197.2):c.278-1G>C - HSD17B3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+?/. 1 - c.383T>C r.(?) p.(Leu128Ser) - likely pathogenic g.99015087A>G g.96252805A>G - 46,XY HSD17B3_000019 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.389A>G r.(?) p.(Asn130Ser) - 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 - - - Mohammed Faruq
+/. 1 - c.414_416del r.(?) p.(Leu139del) - pathogenic g.99013739_99013741del g.96251457_96251459del - 46,XY HSD17B3_000018 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.490-6T>C r.(?) p.(?) - likely pathogenic g.99008878A>G - - - HSD17B3_000029 - - - rs1230867519 CLASSIFICATION record - - - - - MobiDetails
+/., +?/. 2 - c.645A>T r.(?) p.(Glu215Asp) - likely pathogenic, pathogenic g.99006638T>A g.96244356T>A - 46,XY HSD17B3_000017 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.672+1G>A r.spl p.? ACMG pathogenic (recessive) g.99006610C>T g.96244328C>T - - HSD17B3_000032 - - - - Germline - - - - - Yohei Masunaga
+/. 1 - c.695C>T r.(?) p.(Ser232Leu) - pathogenic g.99003167G>A - - - HSD17B3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.704T>C r.(?) p.(Met235Thr) - VUS g.99003158A>G g.96240876A>G HSD17B3(NM_000197.2):c.704T>C (p.M235T) - HSD17B3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.761_762del r.(?) p.(Glu254ValfsTer10) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.804C>T r.(?) p.(=) - benign g.99003058G>A - HSD17B3(NM_000197.2):c.804C>T (p.(Cys268=)) - HSD17B3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.822G>A r.(?) p.(=) - likely pathogenic g.99003040C>T - HSD17B3(NM_000197.2):c.822G>A (p.L274=) - HSD17B3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.823-67_823-59del r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.845C>T r.(?) p.(Pro282Leu) - 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 - - - - - VKGL-NL_Rotterdam
-/. 2 - c.865G>A r.(?) p.(Gly289Ser) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
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