All transcript variants in gene BTD

Information The variants shown are described using the NM_000060.2 transcript reference sequence.

347 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. - c.-30066del benign r.(?) p.(=) g.15613292del - HACL1(NM_012260.4):c.994-4delT - BTD_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-315A>G benign r.(?) p.(=) g.15643043A>G - HACL1(NM_012260.3):c.-73T>C - BTD_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= - r.(?) p.(=) g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. 1_4 c.? - r.(?) p.? g.? - - - BTD_000000 unknown variant PubMed: Muhl 2001 - - Germline - - - 0 - Jasper Saris
+/. 1_4 c.? - r.(?) p.? g.? - - - BTD_000000 unknown variant PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
+/. 1_4 c.? - r.(?) p.? g.? - - - BTD_000000 unknown variant PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/. 1_4 c.? - r.(?) p.? g.? - - - BTD_000000 unknown variant PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/. - c.44+1823A>C pathogenic r.(=) p.(=) g.15645224A>C - - - chr3_006508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 2 c.98_104delinsTCC - r.(?) p.(Cys33Phefs*36) g.15676984_15676990delinsTCC - 98-104del7ins3 - BTD_000109 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
?/? 2 c.98_104delinsTCC - r.(?) p.(Cys33Phefs*36) g.15676984_15676990delinsTCC - - - BTD_000109 - - - rs80338684 Germline - - - 0 - Jasper Saris
+/? 2 c.98_104delinsTCC - r.(?) p.(Cys33Phefs*36) g.15676984_15676990delinsTCC - - - BTD_000109 - PubMed: Pomponio 1995, OMIM:var0001 - rs80338684 Germline - - - 0 - Jasper Saris
+/. - c.98_104delinsTCC pathogenic r.(?) p.(Cys33Phefs*36) g.15676984_15676990delinsTCC - BTD(NM_000060.4):c.98_104delGCGGCTGinsTCC (p.C33Ffs*36) - BTD_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 2 c.100G>A - r.(?) p.(Gly34Ser) g.15676986G>A - - - BTD_000123 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.100G>A pathogenic r.(?) p.(Gly34Ser) g.15676986G>A - BTD(NM_000060.4):c.100G>A (p.G34S) - BTD_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.133G>A - r.(?) p.(Gly45Arg) g.15677019G>A - - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.133G>A - r.(?) p.(Gly45Arg) g.15677019G>A - - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/? 2 c.133G>A - r.(?) p.(Gly45Arg) g.15677019G>A - - - BTD_000024 - - - rs34885143 Germline - - - 0 - Jasper Saris
?/? 2 c.133G>A - r.(?) p.(Gly45Arg) g.15677019G>A - - - BTD_000024 - PubMed: Wiltink 2016 - rs34885143 Germline - - - 0 - Jasper Saris
+/. 2 c.133G>A - r.(?) p.(Gly45Arg) g.15677019G>A - - - BTD_000024 - PubMed: Norrgard 1999 - rs34885143 Germline - - - 0 - Jasper Saris
?/. - c.133G>A VUS r.(?) p.(Gly45Arg) g.15677019G>A - BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.133G>A benign r.(?) p.(Gly45Arg) g.15677019G>A - BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.133G>A benign r.(?) p.(Gly45Arg) g.15677019G>A - BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.133G>A likely benign r.(?) p.(Gly45Arg) g.15677019G>A - BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.136G>T - r.(?) p.(Glu46*) g.15677022G>T - - - BTD_000029 - PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
+/. 2 c.159C>A - r.(?) p.(His53Gln) g.15677045C>A - - - BTD_000040 - PubMed: Wolf 2005 - - Germline - - - 0 - Jasper Saris
+/. 2 c.160G>T - r.(?) p.(Glu54*) g.15677046G>T - - - BTD_000041 - PubMed: Wolf 2005 - - Germline - - - 0 - Jasper Saris
+/. 2 c.171T>G - r.(?) p.(Tyr57*) g.15677057T>G - - - BTD_000047 - PubMed: Pomponio 2000 - - Germline - - - 0 - Jasper Saris
+/. 2 c.184G>A - r.(?) p.(Val62Met) g.15677070G>A - - - BTD_000048 - PubMed: Muhl 2001 - - Germline - - - 0 - Jasper Saris
+/. - c.184G>A pathogenic r.(?) p.(Val62Met) g.15677070G>A - BTD(NM_000060.4):c.184G>A (p.V62M) - BTD_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 2 c.184G>T - r.(?) p.(Val62Leu) g.15677070G>T - - - BTD_000049 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 2 c.190G>A - r.(?) p.(Glu64Lys) g.15677076G>A - - - BTD_000050 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
+/. 2 c.212T>C - r.(?) p.(Leu71Pro) g.15677098T>C - - - BTD_000051 - PubMed: Laszlo 2003 - - Germline - - - 0 - Jasper Saris
+/. 2 c.235C>T - r.(?) p.(Arg79Cys) g.15677121C>T - - - BTD_000052 - PubMed: Pomponio 2000 - - Germline - - - 0 - Jasper Saris
+/. - c.235C>T pathogenic r.(?) p.(Arg79Cys) g.15677121C>T - BTD(NM_000060.4):c.235C>T (p.R79C) - BTD_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 2 c.236G>A - r.(?) p.(Arg79His) g.15677122G>A - - - BTD_000053 - PubMed: Laszlo 2003 - - Germline - - - 0 - Jasper Saris
?/. - c.236G>A VUS r.(?) p.(Arg79His) g.15677122G>A - BTD(NM_000060.4):c.236G>A (p.R79H) - BTD_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 c.245C>A - r.(?) p.(Ala82Asp) g.15677131C>A - - - BTD_000054 - PubMed: Laszlo 2003 - - Germline - - - 0 - Jasper Saris
+/. 2 c.247_255del - r.(?) p.(Leu83_Leu85del) g.15677133_15677141del - - - BTD_000055 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
?/? 2 c.261C>T - r.(?) p.(=) g.15677147C>T - - - BTD_000121 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-?/. - c.261C>T likely benign r.(?) p.(=) g.15677147C>T - BTD(NM_000060.4):c.261C>T (p.N87=) - BTD_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.262C>G likely benign r.(?) p.(Gln88Glu) g.15677148C>G - BTD(NM_001281723.2):c.268C>G (p.Q90E) - BTD_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 2 c.262C>T - r.(?) p.(Gln88*) g.15677148C>T - - - BTD_000056 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/. 2 c.278A>G - r.(?) p.(Tyr93Cys) g.15677164A>G - - - BTD_000057 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
+/. 2 c.283C>T - r.(?) p.(Gln95*) g.15677169C>T - - - BTD_000058 - PubMed: Wolf 2005 - - Germline - - - 0 - Jasper Saris
+/. 2 c.289G>A - r.(?) p.(Val97Met) g.15677175G>A - - - BTD_000059 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 2 c.298G>A - r.(?) p.(Ala100Thr) g.15677184G>A - - - BTD_000060 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
+/. 3 c.310G>T - r.spl? p.(Asp104Tyr) g.15683415G>T - - - BTD_000061 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 3 c.326T>G - r.(?) p.(Val109Gly) g.15683431T>G - - - BTD_000062 - PubMed: Muhl 2001 - - Germline - - - 0 - Jasper Saris
+/. 3 c.334G>A - r.(?) p.(Glu112Lys) g.15683439G>A - - - BTD_000063 - PubMed: Laszlo 2003 - - Germline - - - 0 - Jasper Saris
+/. 3 c.334G>C - r.(?) p.(Glu112Gln) g.15683439G>C - - - BTD_000064 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/. 3 c.341G>T - r.(?) p.(Gly114Val) g.15683446G>T - - - BTD_000065 - PubMed: Wolf 2005 - - Germline - - - 0 - Jasper Saris
+/. 3 c.364A>G - r.(?) p.(Arg122Gly) g.15683469A>G - - - BTD_000066 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/+ 3 c.364A>G - r.(?) p.(Arg122Gly) g.15683469A>G - - - BTD_000066 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.364A>G pathogenic r.(?) p.(Arg122Gly) g.15683469A>G - BTD(NM_000060.4):c.364A>G (p.R122G) - BTD_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.382T>G - r.(?) p.(Phe128Val) g.15683487T>G - - - BTD_000067 - PubMed: Swango 1998 - - Germline - - - 0 - Jasper Saris
+/. 3 c.393delC - r.(?) p.(Phe131Leufs*28) g.15683498delC - - - BTD_000068 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
+/. - c.424C>A pathogenic r.(?) p.(Pro142Thr) g.15683529C>A - BTD(NM_000060.4):c.424C>A (p.P142T) - BTD_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.445T>C - r.(?) p.(Phe149Leu) g.15683550T>C - - - BTD_000069 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 3 c.454A>C - r.(?) p.(Thr152Pro) g.15683559A>C - - - BTD_000070 - PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
?/. - c.454A>C VUS r.(?) p.(Thr152Pro) g.15683559A>C - BTD(NM_000060.4):c.454A>C (p.T152P) - BTD_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.458A>G VUS r.(?) p.(Glu153Gly) g.15683563A>G - BTD(NM_000060.4):c.458A>G (p.E153G) - BTD_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/? 3i c.459+4A>G - r.spl? p.? g.15683568A>G - - - BTD_000120 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
?/. - c.459+4A>G VUS r.spl? p.? g.15683568A>G - BTD(NM_000060.4):c.459+4A>G - BTD_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 4 c.466C>T - r.(?) p.(Gln156*) g.15685829C>T - - - BTD_000071 - PubMed: Pomponio 2000 - - Germline - - - 0 - Jasper Saris
+/. 4 c.469C>T - r.(?) p.(Arg157Cys) g.15685832C>T - - - BTD_000072 - PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
+/. 4 c.470G>A - r.(?) p.(Arg157His) g.15685833G>A - - - BTD_000073 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.470G>A - r.(?) p.(Arg157His) g.15685833G>A - - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.470G>A - r.(?) p.(Arg157His) g.15685833G>A - - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.470G>A - r.(?) p.(Arg157His) g.15685833G>A - - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.470G>A pathogenic r.(?) p.(Arg157His) g.15685833G>A - BTD(NM_000060.4):c.470G>A (p.R157H) - BTD_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.479G>C VUS r.(?) p.(Cys160Ser) g.15685842G>C - BTD(NM_000060.4):c.479G>C (p.C160S) - BTD_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 4 c.485C>T - r.(?) p.(Ala162Val) g.15685848C>T - - - BTD_000074 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 4 c.490_491delAG - r.(?) p.(Arg164Glyfs*17) g.15685853_15685854delAG - - - BTD_000075 - PubMed: Pomponio 2000 - - Germline - - - 0 - Jasper Saris
?/? 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - - - rs13073139 Germline - - - 0 - Jasper Saris
+/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Norrgard 1997 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A - r.(?) p.(Ala171Thr) g.15685874G>A - - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
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