Full data view for gene HSD17B4

Information The variants shown are described using the NM_000414.3 transcript reference sequence.

109 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 1 c.43A>G Pathogenic r.(?) p.(Thr15Ala) Parent #1 g.118788313A>G - - - HSD17B4_000037 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.45del Pathogenic r.(?) p.(Gly16Alafs*20) Parent #1 g.118788315del - - - HSD17B4_000038 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 1 c.46G>A - r.(46g>a) p.(Gly16Ser) Maternal (confirmed) g.118788316G>A g.119452621G>A - - HSD17B4_000004 - PubMed: Demain 2016, Journal: Demain 2016 - rs137853096 Germline - - - 0 - DNA SEQ-NG, SEQ - - PRLTS - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Brazilian - 0 - - 1 Leigh Demain
+/. - c.46G>A pathogenic r.(?) p.(Gly16Ser) Unknown g.118788316G>A - HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.46G>A likely pathogenic r.(?) p.(Gly16Ser) Unknown g.118788316G>A - HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.46G>A pathogenic r.(?) p.(Gly16Ser) Unknown g.118788316G>A - HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.46G>A likely pathogenic r.(?) p.(Gly16Ser) Unknown g.118788316G>A - HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.46G>A - r.(?) p.(Gly16Ser) Parent #1 g.118788316G>A g.119452621G>A - - HSD17B4_000004 moderate genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - DNA SEQ, SEQ-NG - WES ? Pat30 PubMed: Pronicka 2016 2-generation family, 2 affected brothers F - Poland - - 0 - - 2 Johan den Dunnen
+/+ 1 c.46G>A Pathogenic r.(?) p.(Gly16Ser) Parent #1 g.118788316G>A - - - HSD17B4_000004 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.50C>T Pathogenic r.(?) p.(Ala17Val) Parent #1 g.118788320C>T - - - HSD17B4_000039 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.58+164C>A VUS r.(=) p.(=) Unknown g.118788492C>A - HSD17B4(NM_001199291.2):c.44C>A (p.P15Q) - HSD17B4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58+187A>G VUS r.(=) p.(=) Unknown g.118788515A>G - HSD17B4(NM_001199291.2):c.67A>G (p.R23G) - HSD17B4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.63G>T Pathogenic r.(?) p.(Leu21Phe) Parent #1 g.118792014G>T - - - HSD17B4_000040 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 2 c.71C>T Pathogenic r.(?) p.(Ala24Val) Parent #1 g.118792022C>T - - - HSD17B4_000041 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 2 c.76G>C Pathogenic r.(?) p.(Ala26Pro) Parent #1 g.118792027G>C - - - HSD17B4_000042 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 2 c.101C>T Pathogenic r.(?) p.(Ala34Val) Parent #1 g.118792052C>T - - - HSD17B4_000043 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 3 c.130del Pathogenic r.(?) p.(Asp44Thrfs*10) Parent #1 g.118809620del - - - HSD17B4_000044 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 3 c.216C>A Pathogenic r.(?) p.(Asn72Lys) Parent #1 g.118809706C>A - - - HSD17B4_000045 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. - c.226G>T likely pathogenic r.(?) p.(Val76Leu) Unknown g.118810101G>T - - - HSD17B4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.233_235del Pathogenic r.(?) p.(Glu78del) Parent #1 g.118810108_118810110del - - - HSD17B4_000046 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. 4 c.244G>T - r.(244g>u) p.(Val82Phe) Paternal (confirmed) g.118810119G>T g.119474424G>T - - HSD17B4_000003 - PubMed: Demain 2016, Journal: Demain 2016 - - Germline - - - 0 - DNA SEQ-NG, SEQ - - PRLTS - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Brazilian - 0 - - 1 Leigh Demain
+/+ 5i c.302+1G>C Pathogenic r.spl? p.? Parent #1 g.118811423G>C - - - HSD17B4_000047 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 5i c.302+3_302+6del Pathogenic r.spl? p.? Parent #1 g.118811425_118811428del - - - HSD17B4_000048 - - - - SUMMARY record - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 6 c.311G>T Pathogenic r.(?) p.(Arg104Met) Parent #1 g.118811527G>T - - - HSD17B4_000049 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. 6 c.317G>A - r.(?) p.(Arg106His) Paternal (confirmed) g.118811533G>A g.119475838G>A NM_001199291:c.392G>A (Arg131His) - HSD17B4_000007 - PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs25640 Germline - - - 0 - DNA SEQ, SEQ-NG - - PRLTS - PubMed: Ahmed 2015, Journal: Ahmed 2015 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M - Saudi Arabia - - 0 - - 3 Johan den Dunnen
-/. - c.317G>A benign r.(?) p.(Arg106His) Unknown g.118811533G>A - HSD17B4(NM_001199291.2):c.392G>A (p.R131H) - HSD17B4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.317G>A benign r.(?) p.(Arg106His) Unknown g.118811533G>A - HSD17B4(NM_001199291.2):c.392G>A (p.R131H) - HSD17B4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6 c.317G>C Pathogenic r.(?) p.(Arg106Pro) Parent #1 g.118811533G>C - - - HSD17B4_000050 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332T>A VUS r.(?) p.(Ile111Lys) Unknown g.118811548T>A - HSD17B4(NM_001199291.2):c.407T>A (p.I136K) - chr5_006375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 7 c.367C>G Likely pathogenic r.(?) p.(His123Asp) Parent #1 g.118813129C>G - - - HSD17B4_000051 - - - - SUMMARY record - - - 0 - DNA ? - - - - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. - c.367C>T - r.(?) p.(His123Tyr) Parent #2 g.118813129C>T g.119477434C>T - - HSD17B4_000036 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - DNA SEQ, SEQ-NG - WES ? Pat30 PubMed: Pronicka 2016 2-generation family, 2 affected brothers F - Poland - - 0 - - 2 Johan den Dunnen
?/. - c.373C>T VUS r.(?) p.(Arg125Trp) Unknown g.118813135C>T - HSD17B4(NM_001199291.2):c.448C>T (p.R150W) - HSD17B4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.377G>T Pathogenic r.(?) p.(Gly126Val) Parent #1 g.118813139G>T - - - HSD17B4_000052 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 7 c.394C>T Pathogenic r.(?) p.(Arg132Trp) Parent #1 g.118813156C>T - - - HSD17B4_000053 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 7 c.423_424del Pathogenic r.(?) p.(Lys142Valfs*23) Parent #1 g.118813185_118813186del - - - HSD17B4_000054 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 8 c.458C>T Pathogenic r.(?) p.(Ser153Leu) Parent #1 g.118814552C>T - - - HSD17B4_000055 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.465A>G VUS r.(?) p.(Ile155Met) Unknown g.118814559A>G - HSD17B4(NM_001199291.2):c.540A>G (p.I180M) - HSD17B4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8 c.472A>G Pathogenic r.(?) p.(Asn158Asp) Parent #1 g.118814566A>G - - - HSD17B4_000056 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 8 c.485C>A Pathogenic r.(?) p.(Ala162Asp) Parent #1 g.118814579C>A - - - HSD17B4_000057 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 8 c.526A>G Likely pathogenic r.(?) p.(Asn176Asp) Parent #1 g.118814620A>G - - - HSD17B4_000058 - - - - SUMMARY record - - - 0 - DNA ? - - - - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 8 c.530C>T Pathogenic r.(?) p.(Ser177Phe) Parent #1 g.118814624C>T - - - HSD17B4_000059 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.566G>C VUS r.(?) p.(Cys189Ser) Unknown g.118814660G>C - HSD17B4(NM_001199291.2):c.641G>C (p.C214S) - HSD17B4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.587C>T Pathogenic r.(?) p.(Ala196Val) Parent #1 g.118814681C>T - - - HSD17B4_000060 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 9 c.650A>G Pathogenic r.(?) p.(Tyr217Cys) Parent #1 g.118824914A>G - - - HSD17B4_000061 - - - - SUMMARY record - - - 0 - DNA ? - - PRLTS - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 9 c.652G>T Pathogenic r.(?) p.(Val218Leu) Parent #1 g.118824916G>T - - - HSD17B4_000062 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.666C>G benign r.(?) p.(=) Unknown g.118824930C>G - HSD17B4(NM_001199291.2):c.741C>G (p.V247=) - HSD17B4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.672G>A Pathogenic r.(?) p.(Trp224*) Parent #1 g.118824936G>A - - - HSD17B4_000063 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 9 c.694G>A Pathogenic r.(?) p.(Glu232Lys) Parent #1 g.118824958G>A - - - HSD17B4_000064 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 9 c.710T>C Pathogenic r.(?) p.(Phe237Ser) Parent #1 g.118824974T>C - - - HSD17B4_000065 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 10 c.721G>A Pathogenic r.(?) p.(Ala241Thr) Parent #1 g.118827801G>A - - - HSD17B4_000066 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 10 c.725G>A Pathogenic r.(?) p.(Gly242Glu) Parent #1 g.118827805G>A - - - HSD17B4_000067 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.742C>T VUS r.(?) p.(Arg248Cys) Unknown g.118829515C>T - HSD17B4(NM_000414.3):c.742C>T (p.(Arg248Cys)) - HSD17B4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 11 c.742C>T Pathogenic r.(?) p.(Arg248Cys) Parent #1 g.118829515C>T - - - HSD17B4_000006 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 11 c.745T>G Pathogenic r.(?) p.(Trp249Gly) Parent #1 g.118829518T>G - - - HSD17B4_000068 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.786C>T likely benign r.(?) p.(=) Unknown g.118829559C>T - HSD17B4(NM_001199291.2):c.861C>T (p.H287=) - HSD17B4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 11 c.788del Pathogenic r.(?) p.(Pro263Glnfs*2) Parent #1 g.118829561del - - - HSD17B4_000069 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 11 c.817C>T - r.(?) p.(Arg273Cys) Unknown g.118829515C>T - - - HSD17B4_000006 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - PRLTS - ATX107 - F - France - - 0 - - 1 Claire Guissart
+/+ 11 c.819G>T Pathogenic r.(?) p.(Trp273Cys) Parent #1 g.118829592G>T - - - HSD17B4_000070 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 11 c.823A>T - r.(?) p.(Lys275*) Unknown g.118829596A>T g.119493901A>T - - HSD17B4_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/+ 11 c.823A>T Pathogenic r.(?) p.(Lys275*) Parent #1 g.118829596A>T - - - HSD17B4_000001 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 11 c.824_826del Pathogenic r.(?) p.(Lys275del) Parent #1 g.118829597_118829599del - - - HSD17B4_000071 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 12 c.869_881del Pathogenic r.(?) p.(Glu290Valfs*2) Parent #1 g.118832238_118832250del - - - HSD17B4_000072 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 12 c.941dup Pathogenic r.(?) p.(Ser314Argfs*53) Parent #1 g.118832310dup - - - HSD17B4_000073 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.956C>T VUS r.(?) p.(Thr319Ile) Unknown g.118832325C>T - HSD17B4(NM_001199291.2):c.1031C>T (p.T344I) - HSD17B4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12i c.973-9_973-1dup Pathogenic r.spl? p.? Parent #1 g.118835003_118835011dup - - - HSD17B4_000074 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.994C>T likely benign r.(?) p.(Leu332Phe) Unknown g.118835033C>T - HSD17B4(NM_001199291.2):c.1069C>T (p.L357F) - HSD17B4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1042G>A Pathogenic r.(?) p.(Ala348Thr) Parent #1 g.118835081G>A - - - HSD17B4_000075 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 13 c.1052T>G Pathogenic r.(?) p.(Val351Gly) Parent #1 g.118835091T>G - - - HSD17B4_000076 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.1059G>A benign r.(?) p.(=) Unknown g.118835098G>A - HSD17B4(NM_001199291.2):c.1134G>A (p.A378=) - HSD17B4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1097A>G Pathogenic r.(?) p.(Glu366Gly) Parent #1 g.118835136A>G - - - HSD17B4_000077 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.1199A>G likely benign r.(?) p.(Asn400Ser) Unknown g.118835238A>G - HSD17B4(NM_001199291.2):c.1274A>G (p.N425S) - HSD17B4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1207G>A - r.? p.(Gly403Arg) Paternal (confirmed) g.118835171G>A - - - HSD17B4_000005 - - - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - PRLTS - ATX107 - F - France - - 0 - - 1 Claire Guissart
-?/. - c.1210-8T>C likely benign r.(=) p.(=) Unknown g.118837728T>C - HSD17B4(NM_001199291.2):c.1285-8T>C - HSD17B4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 14 c.1214T>C Pathogenic r.(?) p.(Leu405Pro) Parent #1 g.118837740T>C - - - HSD17B4_000078 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1317A>G VUS r.(?) p.(=) Unknown g.118842568A>G - HSD17B4(NM_001199291.2):c.1392A>G (p.V464=) - HSD17B4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1361T>C VUS r.(?) p.(Ile454Thr) Unknown g.118844863T>C - HSD17B4(NM_001199291.2):c.1436T>C (p.I479T) - HSD17B4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 16 c.1369A>G Pathogenic r.(?) p.(Asn457Asp) Parent #1 g.118844871A>G - - - HSD17B4_000079 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. - c.1369A>T pathogenic r.(?) p.(Asn457Tyr) Unknown g.118844871A>T - HSD17B4(NM_000414.3):c.1369A>T (p.N457Y) - HSD17B4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 16 c.1369A>T Pathogenic r.(?) p.(Asn457Tyr) Parent #1 g.118844871A>T - - - HSD17B4_000014 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1417C>T VUS r.(?) p.(Arg473Trp) Unknown g.118844919C>T - HSD17B4(NM_001199291.2):c.1492C>T (p.R498W) - HSD17B4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1437+200G>A benign r.(=) p.(=) Unknown g.118845139G>A - HSD17B4(NM_001199291.2):c.1512+200G>A - HSD17B4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1471G>A likely benign r.(?) p.(Ala491Thr) Unknown g.118850709G>A - HSD17B4(NM_001199291.2):c.1546G>A (p.A516T), HSD17B4(NM_001199291.3):c.1546G>A (p.A516T) - HSD17B4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1471G>A VUS r.(?) p.(Ala491Thr) Unknown g.118850709G>A - HSD17B4(NM_001199291.2):c.1546G>A (p.A516T), HSD17B4(NM_001199291.3):c.1546G>A (p.A516T) - HSD17B4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1471G>A likely benign r.(?) p.(Ala491Thr) Unknown g.118850709G>A - HSD17B4(NM_001199291.2):c.1546G>A (p.A516T), HSD17B4(NM_001199291.3):c.1546G>A (p.A516T) - HSD17B4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1471G>A - r.(?) p.(Ala491Thr) Unknown g.118850709G>A g.119515014G>A - - HSD17B4_000016 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs28943591 Germline - 5/2790 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
+/+ 18 c.1516C>T Pathogenic r.(?) p.(Arg506Cys) Parent #1 g.118860923C>T - - - HSD17B4_000080 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 18 c.1517G>A Pathogenic r.(?) p.(Arg506His) Parent #1 g.118860924G>A - - - HSD17B4_000081 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 18 c.1528G>T Pathogenic r.(?) p.(Asp510Tyr) Parent #1 g.118860935G>T - - - HSD17B4_000082 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 18 c.1537C>A Pathogenic r.(?) p.(Pro513Thr) Parent #1 g.118860944C>A - - - HSD17B4_000083 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 18 c.1538C>T Pathogenic r.(?) p.(Pro513Leu) Parent #1 g.118860945C>T - - - HSD17B4_000084 - - - - SUMMARY record - - - 0 - DNA ? - - deafness - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 18 c.1545C>G Pathogenic r.(?) p.(His515Gln) Parent #1 g.118860952C>G - - - HSD17B4_000085 - - - - SUMMARY record - - - 0 - DNA ? - - PBD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 18 c.1547T>C Pathogenic r.(?) p.(Ile516Thr) Parent #1 g.118860954T>C - - - HSD17B4_000086 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1574-6T>C VUS r.(=) p.(=) Unknown g.118861606T>C - HSD17B4(NM_000414.3):c.1574-6T>C (p.(=)) - HSD17B4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 19 c.1574G>T Pathogenic r.(?) p.(Gly525Val) Parent #1 g.118861612G>T - - - HSD17B4_000087 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 19 c.1586C>T Pathogenic r.(?) p.(Pro529Leu) Parent #1 g.118861624C>T - - - HSD17B4_000088 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 19 c.1595A>G Pathogenic r.(?) p.(His532Arg) Parent #1 g.118861633A>G - - - HSD17B4_000089 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 19 c.1597G>C Pathogenic r.(?) p.(Gly533Arg) Parent #1 g.118861635G>C - - - HSD17B4_000090 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 19 c.1628G>C Pathogenic r.(?) p.(Arg543Pro) Parent #1 g.118861666G>C - - - HSD17B4_000091 - - - - SUMMARY record - - - 0 - DNA ? - - DBPD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. 19 c.1675A>G - r.(1675a>g) p.(Ile559Val) Paternal (confirmed) g.118861713A>G g.119526018A>G NM_001199291:c.1750A>G (Ile584Val) - HSD17B4_000008 - PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs11205 Germline - - - 0 - DNA SEQ, SEQ-NG - - PRLTS - PubMed: Ahmed 2015, Journal: Ahmed 2015 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M - Saudi Arabia - - 0 - - 3 Johan den Dunnen
-/. - c.1675A>G benign r.(?) p.(Ile559Val) Unknown g.118861713A>G - HSD17B4(NM_001199291.2):c.1750A>G (p.I584V) - HSD17B4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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