All transcript variants in 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)     

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.43A>G r.(?) p.(Thr15Ala) - pathogenic g.118788313A>G g.119452618A>G - - HSD17B4_000037 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 1 c.45del r.(?) p.(Gly16Alafs*20) - pathogenic g.118788315del g.119452620del - - HSD17B4_000038 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.46G>A r.(46g>a) p.(Gly16Ser) - - g.118788316G>A g.119452621G>A - - HSD17B4_000004 - PubMed: Demain 2016, Journal: Demain 2016 - rs137853096 Germline - - - 0 - Leigh Demain
+/. - c.46G>A r.(?) p.(Gly16Ser) - pathogenic g.118788316G>A g.119452621G>A HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.46G>A r.(?) p.(Gly16Ser) - likely pathogenic g.118788316G>A g.119452621G>A HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.46G>A r.(?) p.(Gly16Ser) - pathogenic g.118788316G>A g.119452621G>A HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.46G>A r.(?) p.(Gly16Ser) - likely pathogenic g.118788316G>A g.119452621G>A HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.46G>A r.(?) p.(Gly16Ser) - - g.118788316G>A g.119452621G>A - - HSD17B4_000004 moderate genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
+/+ 1 c.46G>A r.(?) p.(Gly16Ser) - pathogenic g.118788316G>A g.119452621G>A - - HSD17B4_000004 - MORL Deafness Variation Database, PubMed: van Grunsven 1999, PubMed: Ferdinandusse 2006, PubMed: van Grunsven 1998 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 1 c.50C>T r.(?) p.(Ala17Val) - pathogenic g.118788320C>T g.119452625C>T - - HSD17B4_000039 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.58+164C>A r.(=) p.(=) - VUS g.118788492C>A g.119452797C>A HSD17B4(NM_001199291.2):c.44C>A (p.P15Q) - HSD17B4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.58+187A>G r.(=) p.(=) - VUS g.118788515A>G g.119452820A>G HSD17B4(NM_001199291.2):c.67A>G (p.R23G) - HSD17B4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 c.63G>T r.(?) p.(Leu21Phe) - pathogenic g.118792014G>T g.119456319G>T - - HSD17B4_000040 - MORL Deafness Variation Database, PubMed: van Grunsven 1999 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 2 c.71C>T r.(?) p.(Ala24Val) - pathogenic g.118792022C>T g.119456327C>T - - HSD17B4_000041 - MORL Deafness Variation Database, PubMed: Sawyer 2014 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 2 c.76G>C r.(?) p.(Ala26Pro) - pathogenic g.118792027G>C g.119456332G>C - - HSD17B4_000042 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 2 c.101C>T r.(?) p.(Ala34Val) - pathogenic g.118792052C>T g.119456357C>T - - HSD17B4_000043 - MORL Deafness Variation Database, PubMed: McMillan 2012, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 3 c.130del r.(?) p.(Asp44Thrfs*10) - pathogenic g.118809620del g.119473925del - - HSD17B4_000044 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 3 c.216C>A r.(?) p.(Asn72Lys) - pathogenic g.118809706C>A g.119474011C>A - - HSD17B4_000045 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+?/. - c.226G>T r.(?) p.(Val76Leu) - likely pathogenic g.118810101G>T g.119474406G>T - - HSD17B4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 4 c.233_235del r.(?) p.(Glu78del) - pathogenic g.118810108_118810110del g.119474413_119474415del - - HSD17B4_000046 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+?/. 4 c.244G>T r.(244g>u) p.(Val82Phe) - - g.118810119G>T g.119474424G>T - - HSD17B4_000003 - PubMed: Demain 2016, Journal: Demain 2016 - - Germline - - - 0 - Leigh Demain
+/+ 5i c.302+1G>C r.spl? p.? - pathogenic g.118811423G>C g.119475728G>C - - HSD17B4_000047 - MORL Deafness Variation Database, PubMed: Paton 2002, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 5i c.302+3_302+6del r.spl? p.? - pathogenic g.118811425_118811428del g.119475730_119475733del - - HSD17B4_000048 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 6 c.311G>T r.(?) p.(Arg104Met) - pathogenic g.118811527G>T g.119475832G>T - - HSD17B4_000049 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-/. 6 c.317G>A r.(?) p.(Arg106His) - - g.118811533G>A g.119475838G>A NM_001199291:c.392G>A (Arg131His) - HSD17B4_000007 - PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs25640 Germline - - - 0 - Johan den Dunnen
-/. - c.317G>A r.(?) p.(Arg106His) - benign g.118811533G>A g.119475838G>A HSD17B4(NM_001199291.2):c.392G>A (p.R131H) - HSD17B4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.317G>A r.(?) p.(Arg106His) - benign g.118811533G>A g.119475838G>A HSD17B4(NM_001199291.2):c.392G>A (p.R131H) - HSD17B4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 6 c.317G>C r.(?) p.(Arg106Pro) - pathogenic g.118811533G>C g.119475838G>C - - HSD17B4_000050 - MORL Deafness Variation Database, PubMed: Nakano 2001, PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.332T>A r.(?) p.(Ile111Lys) - VUS g.118811548T>A g.119475853T>A HSD17B4(NM_001199291.2):c.407T>A (p.I136K) - HSD17B4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 7 c.367C>G r.(?) p.(His123Asp) - likely pathogenic g.118813129C>G g.119477434C>G - - HSD17B4_000051 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.367C>T r.(?) p.(His123Tyr) - - g.118813129C>T g.119477434C>T - - HSD17B4_000036 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
?/. - c.373C>T r.(?) p.(Arg125Trp) - VUS g.118813135C>T g.119477440C>T HSD17B4(NM_001199291.2):c.448C>T (p.R150W) - HSD17B4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 7 c.377G>T r.(?) p.(Gly126Val) - pathogenic g.118813139G>T g.119477444G>T - - HSD17B4_000052 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 7 c.394C>T r.(?) p.(Arg132Trp) - pathogenic g.118813156C>T g.119477461C>T - - HSD17B4_000053 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 7 c.423_424del r.(?) p.(Lys142Valfs*23) - pathogenic g.118813185_118813186del g.119477490_119477491del - - HSD17B4_000054 - MORL Deafness Variation Database, PubMed: van Grunsven 1999 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 8 c.458C>T r.(?) p.(Ser153Leu) - pathogenic g.118814552C>T g.119478857C>T - - HSD17B4_000055 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.465A>G r.(?) p.(Ile155Met) - VUS g.118814559A>G g.119478864A>G HSD17B4(NM_001199291.2):c.540A>G (p.I180M) - HSD17B4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 8 c.472A>G r.(?) p.(Asn158Asp) - pathogenic g.118814566A>G g.119478871A>G - - HSD17B4_000056 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 8 c.485C>A r.(?) p.(Ala162Asp) - pathogenic g.118814579C>A g.119478884C>A - - HSD17B4_000057 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+?/+? 8 c.526A>G r.(?) p.(Asn176Asp) - likely pathogenic g.118814620A>G g.119478925A>G - - HSD17B4_000058 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 8 c.530C>T r.(?) p.(Ser177Phe) - pathogenic g.118814624C>T g.119478929C>T - - HSD17B4_000059 - MORL Deafness Variation Database, PubMed: Möller 2001 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.566G>C r.(?) p.(Cys189Ser) - VUS g.118814660G>C g.119478965G>C HSD17B4(NM_001199291.2):c.641G>C (p.C214S) - HSD17B4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 8 c.587C>T r.(?) p.(Ala196Val) - pathogenic g.118814681C>T g.119478986C>T - - HSD17B4_000060 - MORL Deafness Variation Database, PubMed: Lieber 2014 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 9 c.650A>G r.(?) p.(Tyr217Cys) - pathogenic g.118824914A>G g.119489219A>G - - HSD17B4_000061 - MORL Deafness Variation Database, PubMed: Pierce 2010, PubMed: Fiumara 2004, PubMed: McCarthy 1985 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 9 c.652G>T r.(?) p.(Val218Leu) - pathogenic g.118824916G>T g.119489221G>T - - HSD17B4_000062 - MORL Deafness Variation Database, PubMed: Möller 2001 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-/. - c.666C>G r.(?) p.(Val222=) - benign g.118824930C>G g.119489235C>G HSD17B4(NM_001199291.2):c.741C>G (p.V247=) - HSD17B4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 9 c.672G>A r.(?) p.(Trp224*) - pathogenic g.118824936G>A g.119489241G>A - - HSD17B4_000063 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 9 c.694G>A r.(?) p.(Glu232Lys) - pathogenic g.118824958G>A g.119489263G>A - - HSD17B4_000064 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 9 c.710T>C r.(?) p.(Phe237Ser) - pathogenic g.118824974T>C g.119489279T>C - - HSD17B4_000065 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.721G>A r.(?) p.(Ala241Thr) - pathogenic g.118827801G>A g.119492106G>A - - HSD17B4_000066 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.725G>A r.(?) p.(Gly242Glu) - pathogenic g.118827805G>A g.119492110G>A - - HSD17B4_000067 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.742C>T r.(?) p.(Arg248Cys) - VUS g.118829515C>T g.119493820C>T HSD17B4(NM_000414.3):c.742C>T (p.(Arg248Cys)) - HSD17B4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/+ 11 c.742C>T r.(?) p.(Arg248Cys) - pathogenic g.118829515C>T g.119493820C>T - - HSD17B4_000006 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.745T>G r.(?) p.(Trp249Gly) - pathogenic g.118829518T>G g.119493823T>G - - HSD17B4_000068 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.786C>T r.(?) p.(His262=) - likely benign g.118829559C>T g.119493864C>T HSD17B4(NM_001199291.2):c.861C>T (p.H287=) - HSD17B4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 11 c.788del r.(?) p.(Pro263Glnfs*2) - pathogenic g.118829561del g.119493866del - - HSD17B4_000069 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. 11 c.817C>T r.(?) p.(Arg273Cys) - - g.118829515C>T - - - HSD17B4_000006 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - 0 - Claire Guissart
+/+ 11 c.819G>T r.(?) p.(Trp273Cys) - pathogenic g.118829592G>T g.119493897G>T - - HSD17B4_000070 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. 11 c.823A>T r.(?) p.(Lys275*) - - g.118829596A>T g.119493901A>T - - HSD17B4_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma
+/+ 11 c.823A>T r.(?) p.(Lys275*) - pathogenic g.118829596A>T g.119493901A>T - - HSD17B4_000001 - MORL Deafness Variation Database, PubMed: Bell 2011, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 11 c.824_826del r.(?) p.(Lys275del) - pathogenic g.118829597_118829599del g.119493902_119493904del - - HSD17B4_000071 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 12 c.869_881del r.(?) p.(Glu290Valfs*2) - pathogenic g.118832238_118832250del g.119496543_119496555del - - HSD17B4_000072 - MORL Deafness Variation Database, PubMed: van Grunsven 1999 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 12 c.941dup r.(?) p.(Ser314Argfs*53) - pathogenic g.118832310dup g.119496615dup - - HSD17B4_000073 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.956C>T r.(?) p.(Thr319Ile) - VUS g.118832325C>T g.119496630C>T HSD17B4(NM_001199291.2):c.1031C>T (p.T344I) - HSD17B4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 12i c.973-9_973-1dup r.spl? p.? - pathogenic g.118835003_118835011dup g.119499308_119499316dup - - HSD17B4_000074 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.994C>T r.(?) p.(Leu332Phe) - likely benign g.118835033C>T g.119499338C>T HSD17B4(NM_001199291.2):c.1069C>T (p.L357F) - HSD17B4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 13 c.1042G>A r.(?) p.(Ala348Thr) - pathogenic g.118835081G>A g.119499386G>A - - HSD17B4_000075 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 13 c.1052T>G r.(?) p.(Val351Gly) - pathogenic g.118835091T>G g.119499396T>G - - HSD17B4_000076 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-/. - c.1059G>A r.(?) p.(Ala353=) - benign g.118835098G>A g.119499403G>A HSD17B4(NM_001199291.2):c.1134G>A (p.A378=) - HSD17B4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 13 c.1097A>G r.(?) p.(Glu366Gly) - pathogenic g.118835136A>G g.119499441A>G - - HSD17B4_000077 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.1199A>G r.(?) p.(Asn400Ser) - likely benign g.118835238A>G g.119499543A>G HSD17B4(NM_001199291.2):c.1274A>G (p.N425S) - HSD17B4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 13 c.1207G>A r.? p.(Gly403Arg) - - g.118835171G>A - - - HSD17B4_000005 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - De novo - - - 0 - Claire Guissart
-?/. - c.1210-8T>C r.(=) p.(=) - likely benign g.118837728T>C g.119502033T>C HSD17B4(NM_001199291.2):c.1285-8T>C - HSD17B4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 14 c.1214T>C r.(?) p.(Leu405Pro) - pathogenic g.118837740T>C g.119502045T>C - - HSD17B4_000078 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.1317A>G r.(?) p.(Val439=) - VUS g.118842568A>G g.119506873A>G HSD17B4(NM_001199291.2):c.1392A>G (p.V464=) - HSD17B4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1361T>C r.(?) p.(Ile454Thr) - VUS g.118844863T>C g.119509168T>C HSD17B4(NM_001199291.2):c.1436T>C (p.I479T) - HSD17B4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 16 c.1369A>G r.(?) p.(Asn457Asp) - pathogenic g.118844871A>G g.119509176A>G - - HSD17B4_000079 - MORL Deafness Variation Database, PubMed: van Grunsven 1999, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.1369A>T r.(?) p.(Asn457Tyr) - pathogenic g.118844871A>T g.119509176A>T HSD17B4(NM_000414.3):c.1369A>T (p.N457Y) - HSD17B4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 16 c.1369A>T r.(?) p.(Asn457Tyr) - pathogenic g.118844871A>T g.119509176A>T - - HSD17B4_000014 - MORL Deafness Variation Database, PubMed: van Grunsven 1999, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.1417C>T r.(?) p.(Arg473Trp) - VUS g.118844919C>T g.119509224C>T HSD17B4(NM_001199291.2):c.1492C>T (p.R498W) - HSD17B4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1437+200G>A r.(=) p.(=) - benign g.118845139G>A g.119509444G>A HSD17B4(NM_001199291.2):c.1512+200G>A - HSD17B4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1471G>A r.(?) p.(Ala491Thr) - likely benign g.118850709G>A g.119515014G>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 - VKGL-NL_Groningen
?/. - c.1471G>A r.(?) p.(Ala491Thr) - VUS g.118850709G>A g.119515014G>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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1471G>A r.(?) p.(Ala491Thr) - likely benign g.118850709G>A g.119515014G>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 - - - - - VKGL-NL_AMC
?/. - c.1471G>A r.(?) p.(Ala491Thr) - - g.118850709G>A g.119515014G>A - - HSD17B4_000016 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs28943591 Germline - 5/2795 individuals - 0 - Mohammed Faruq
+/+ 18 c.1516C>T r.(?) p.(Arg506Cys) - pathogenic g.118860923C>T g.119525228C>T - - HSD17B4_000080 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 18 c.1517G>A r.(?) p.(Arg506His) - pathogenic g.118860924G>A g.119525229G>A - - HSD17B4_000081 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 18 c.1528G>T r.(?) p.(Asp510Tyr) - pathogenic g.118860935G>T g.119525240G>T - - HSD17B4_000082 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 18 c.1537C>A r.(?) p.(Pro513Thr) - pathogenic g.118860944C>A g.119525249C>A - - HSD17B4_000083 - MORL Deafness Variation Database, PubMed: Sawyer 2014 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 18 c.1538C>T r.(?) p.(Pro513Leu) - pathogenic g.118860945C>T g.119525250C>T - - HSD17B4_000084 - MORL Deafness Variation Database, PubMed: Lines 2014 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 18 c.1545C>G r.(?) p.(His515Gln) - pathogenic g.118860952C>G g.119525257C>G - - HSD17B4_000085 - MORL Deafness Variation Database, PubMed: Shaheen 2011 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 18 c.1547T>C r.(?) p.(Ile516Thr) - pathogenic g.118860954T>C g.119525259T>C - - HSD17B4_000086 - MORL Deafness Variation Database, PubMed: McMillan 2012, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.1574-6T>C r.(=) p.(=) - VUS g.118861606T>C g.119525911T>C HSD17B4(NM_000414.3):c.1574-6T>C (p.(=)) - HSD17B4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/+ 19 c.1574G>T r.(?) p.(Gly525Val) - pathogenic g.118861612G>T g.119525917G>T - - HSD17B4_000087 - MORL Deafness Variation Database, PubMed: Mizumoto 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 19 c.1586C>T r.(?) p.(Pro529Leu) - pathogenic g.118861624C>T g.119525929C>T - - HSD17B4_000088 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 19 c.1595A>G r.(?) p.(His532Arg) - pathogenic g.118861633A>G g.119525938A>G - - HSD17B4_000089 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 19 c.1597G>C r.(?) p.(Gly533Arg) - pathogenic g.118861635G>C g.119525940G>C - - HSD17B4_000090 - MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 19 c.1628G>C r.(?) p.(Arg543Pro) - pathogenic g.118861666G>C g.119525971G>C - - HSD17B4_000091 - MORL Deafness Variation Database, PubMed: Lines 2014, PubMed: Sawyer 2014 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-/. 19 c.1675A>G r.(1675a>g) p.(Ile559Val) - - g.118861713A>G g.119526018A>G NM_001199291:c.1750A>G (Ile584Val) - HSD17B4_000008 - PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs11205 Germline - - - 0 - Johan den Dunnen
-/. - c.1675A>G r.(?) p.(Ile559Val) - benign g.118861713A>G g.119526018A>G HSD17B4(NM_001199291.2):c.1750A>G (p.I584V) - HSD17B4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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