All transcript variants in gene BTD

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

363 entries on 4 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     
-/. - c.-30066del r.(?) p.(=) - benign g.15613292del g.15571785del HACL1(NM_012260.4):c.994-4delT - BTD_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-315A>G r.(?) p.(=) - benign g.15643043A>G g.15601536A>G HACL1(NM_012260.3):c.-73T>C - BTD_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-/- 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. 1_4 c.? r.(?) p.? - pathogenic g.? - - - BTD_000000 unknown variant PubMed: Muhl 2001 - - Germline - - - 0 - Jasper Saris
+/. 1_4 c.? r.(?) p.? - pathogenic g.? - - - BTD_000000 unknown variant PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
+/. 1_4 c.? r.(?) p.? - pathogenic g.? - - - BTD_000000 unknown variant PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/. 1_4 c.? r.(?) p.? - pathogenic g.? - - - BTD_000000 unknown variant PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/. - c.44+1823A>C r.(=) p.(=) - pathogenic g.15645224A>C g.15603717A>C - - BTD_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 c.98_104delinsTCC r.(?) p.(Cys33Phefs*36) - pathogenic g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC 98-104del7ins3 - BTD_000109 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
?/? 2 c.98_104delinsTCC r.(?) p.(Cys33Phefs*36) - VUS g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC - - BTD_000109 - - - rs80338684 Germline - - - 0 - Jasper Saris
+/? 2 c.98_104delinsTCC r.(?) p.(Cys33Phefs*36) - pathogenic g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC - - BTD_000109 - PubMed: Pomponio 1995, OMIM:var0001 - rs80338684 Germline - - - 0 - Jasper Saris
+/. - c.98_104delinsTCC r.(?) p.(Cys33PhefsTer36) - pathogenic g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC BTD(NM_000060.4):c.98_104delGCGGCTGinsTCC (p.C33Ffs*36) - BTD_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 c.100G>A r.(?) p.(Gly34Ser) - pathogenic g.15676986G>A g.15635479G>A - - BTD_000123 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.100G>A r.(?) p.(Gly34Ser) - pathogenic g.15676986G>A g.15635479G>A BTD(NM_000060.4):c.100G>A (p.G34S) - BTD_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/? 2 c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - rs34885143 Germline - - - 0 - Jasper Saris
?/? 2 c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - PubMed: Wiltink 2016 - rs34885143 Germline - - - 0 - Jasper Saris
+/. 2 c.133G>A r.(?) p.(Gly45Arg) - pathogenic g.15677019G>A g.15635512G>A - - BTD_000024 - PubMed: Norrgard 1999 - rs34885143 Germline - - - 0 - Jasper Saris
?/. - c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>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 r.(?) p.(Gly45Arg) - benign g.15677019G>A g.15635512G>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 r.(?) p.(Gly45Arg) - benign g.15677019G>A g.15635512G>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 r.(?) p.(Gly45Arg) - likely benign g.15677019G>A g.15635512G>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
?/. - c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs34885143 Germline - 19/2795 individuals - 0 - Mohammed Faruq
+/. 2 c.136G>T r.(?) p.(Glu46*) - pathogenic g.15677022G>T g.15635515G>T - - BTD_000029 - PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
+/. 2 c.159C>A r.(?) p.(His53Gln) - pathogenic g.15677045C>A g.15635538C>A - - BTD_000040 - PubMed: Wolf 2005 - - Germline - - - 0 - Jasper Saris
+/. 2 c.160G>T r.(?) p.(Glu54*) - pathogenic g.15677046G>T g.15635539G>T - - BTD_000041 - PubMed: Wolf 2005 - - Germline - - - 0 - Jasper Saris
+/. 2 c.171T>G r.(?) p.(Tyr57*) - pathogenic g.15677057T>G g.15635550T>G - - BTD_000047 - PubMed: Pomponio 2000 - - Germline - - - 0 - Jasper Saris
+/. 2 c.184G>A r.(?) p.(Val62Met) - pathogenic g.15677070G>A g.15635563G>A - - BTD_000048 - PubMed: Muhl 2001 - - Germline - - - 0 - Jasper Saris
+/. - c.184G>A r.(?) p.(Val62Met) - pathogenic g.15677070G>A g.15635563G>A BTD(NM_000060.4):c.184G>A (p.V62M) - BTD_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 2 c.184G>T r.(?) p.(Val62Leu) - pathogenic g.15677070G>T g.15635563G>T - - BTD_000049 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 2 c.190G>A r.(?) p.(Glu64Lys) - pathogenic g.15677076G>A g.15635569G>A - - BTD_000050 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
+/. 2 c.212T>C r.(?) p.(Leu71Pro) - pathogenic g.15677098T>C g.15635591T>C - - BTD_000051 - PubMed: Laszlo 2003 - - Germline - - - 0 - Jasper Saris
+/. 2 c.235C>T r.(?) p.(Arg79Cys) - pathogenic g.15677121C>T g.15635614C>T - - BTD_000052 - PubMed: Pomponio 2000 - - Germline - - - 0 - Jasper Saris
+/. - c.235C>T r.(?) p.(Arg79Cys) - pathogenic g.15677121C>T g.15635614C>T BTD(NM_000060.4):c.235C>T (p.R79C) - BTD_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 2 c.236G>A r.(?) p.(Arg79His) - pathogenic g.15677122G>A g.15635615G>A - - BTD_000053 - PubMed: Laszlo 2003 - - Germline - - - 0 - Jasper Saris
?/. - c.236G>A r.(?) p.(Arg79His) - VUS g.15677122G>A g.15635615G>A BTD(NM_000060.4):c.236G>A (p.R79H) - BTD_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.245C>A r.(?) p.(Ala82Asp) - pathogenic g.15677131C>A g.15635624C>A - - BTD_000054 - PubMed: Laszlo 2003 - - Germline - - - 0 - Jasper Saris
+/. 2 c.247_255del r.(?) p.(Leu83_Leu85del) - pathogenic g.15677133_15677141del g.15635626_15635634del - - BTD_000055 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
?/? 2 c.261C>T r.(?) p.(=) - VUS g.15677147C>T g.15635640C>T - - BTD_000121 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
-?/. - c.261C>T r.(?) p.(Asn87=) - likely benign g.15677147C>T g.15635640C>T BTD(NM_001323582.1):c.201C>T (p.N67=) - BTD_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.262C>G r.(?) p.(Gln88Glu) - likely benign g.15677148C>G g.15635641C>G BTD(NM_001281723.2):c.268C>G (p.Q90E) - BTD_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 2 c.262C>T r.(?) p.(Gln88*) - pathogenic g.15677148C>T g.15635641C>T - - BTD_000056 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/. 2 c.278A>G r.(?) p.(Tyr93Cys) - pathogenic g.15677164A>G g.15635657A>G - - BTD_000057 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
+/. 2 c.283C>T r.(?) p.(Gln95*) - pathogenic g.15677169C>T g.15635662C>T - - BTD_000058 - PubMed: Wolf 2005 - - Germline - - - 0 - Jasper Saris
+/. 2 c.289G>A r.(?) p.(Val97Met) - pathogenic g.15677175G>A g.15635668G>A - - BTD_000059 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 2 c.298G>A r.(?) p.(Ala100Thr) - pathogenic g.15677184G>A g.15635677G>A - - BTD_000060 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
+/. 3 c.310G>T r.spl? p.(Asp104Tyr) - pathogenic g.15683415G>T g.15641908G>T - - BTD_000061 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 3 c.326T>G r.(?) p.(Val109Gly) - pathogenic g.15683431T>G g.15641924T>G - - BTD_000062 - PubMed: Muhl 2001 - - Germline - - - 0 - Jasper Saris
+/. 3 c.334G>A r.(?) p.(Glu112Lys) - pathogenic g.15683439G>A g.15641932G>A - - BTD_000063 - PubMed: Laszlo 2003 - - Germline - - - 0 - Jasper Saris
+/. 3 c.334G>C r.(?) p.(Glu112Gln) - pathogenic g.15683439G>C g.15641932G>C - - BTD_000064 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/. 3 c.341G>T r.(?) p.(Gly114Val) - pathogenic g.15683446G>T g.15641939G>T - - BTD_000065 - PubMed: Wolf 2005 - - Germline - - - 0 - Jasper Saris
+/. 3 c.364A>G r.(?) p.(Arg122Gly) - pathogenic g.15683469A>G g.15641962A>G - - BTD_000066 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/+ 3 c.364A>G r.(?) p.(Arg122Gly) - pathogenic g.15683469A>G g.15641962A>G - - BTD_000066 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.364A>G r.(?) p.(Arg122Gly) - pathogenic g.15683469A>G g.15641962A>G BTD(NM_000060.4):c.364A>G (p.R122G) - BTD_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.382T>G r.(?) p.(Phe128Val) - pathogenic g.15683487T>G g.15641980T>G - - BTD_000067 - PubMed: Swango 1998 - - Germline - - - 0 - Jasper Saris
+/. 3 c.393del r.(?) p.(Phe131Leufs*28) - pathogenic g.15683498del g.15641991del - - BTD_000068 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
+/. - c.424C>A r.(?) p.(Pro142Thr) - pathogenic g.15683529C>A g.15642022C>A BTD(NM_000060.4):c.424C>A (p.P142T) - BTD_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.445T>C r.(?) p.(Phe149Leu) - pathogenic g.15683550T>C g.15642043T>C - - BTD_000069 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 3 c.454A>C r.(?) p.(Thr152Pro) - pathogenic g.15683559A>C g.15642052A>C - - BTD_000070 - PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
?/. - c.454A>C r.(?) p.(Thr152Pro) - VUS g.15683559A>C g.15642052A>C BTD(NM_000060.4):c.454A>C (p.T152P) - BTD_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.458A>G r.(?) p.(Glu153Gly) - VUS g.15683563A>G g.15642056A>G BTD(NM_000060.4):c.458A>G (p.E153G) - BTD_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 3i c.459+4A>G r.spl? p.? - VUS g.15683568A>G g.15642061A>G - - BTD_000120 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
?/. - c.459+4A>G r.spl? p.? - VUS g.15683568A>G g.15642061A>G BTD(NM_000060.4):c.459+4A>G - BTD_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 4 c.466C>T r.(?) p.(Gln156*) - pathogenic g.15685829C>T g.15644322C>T - - BTD_000071 - PubMed: Pomponio 2000 - - Germline - - - 0 - Jasper Saris
+/. 4 c.469C>T r.(?) p.(Arg157Cys) - pathogenic g.15685832C>T g.15644325C>T - - BTD_000072 - PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
+/. 4 c.470G>A r.(?) p.(Arg157His) - pathogenic g.15685833G>A g.15644326G>A - - BTD_000073 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.470G>A r.(?) p.(Arg157His) - pathogenic g.15685833G>A g.15644326G>A - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.470G>A r.(?) p.(Arg157His) - pathogenic g.15685833G>A g.15644326G>A - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.470G>A r.(?) p.(Arg157His) - pathogenic g.15685833G>A g.15644326G>A - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.470G>A r.(?) p.(Arg157His) - pathogenic g.15685833G>A g.15644326G>A BTD(NM_000060.4):c.470G>A (p.R157H) - BTD_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.470G>A r.(?) p.(Arg157His) - VUS g.15685833G>A g.15644326G>A BTD(NM_000060.4):c.470G>A (p.R157H) - BTD_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.479G>C r.(?) p.(Cys160Ser) - VUS g.15685842G>C g.15644335G>C BTD(NM_000060.4):c.479G>C (p.C160S) - BTD_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 4 c.485C>T r.(?) p.(Ala162Val) - pathogenic g.15685848C>T g.15644341C>T - - BTD_000074 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/. 4 c.490_491del r.(?) p.(Arg164Glyfs*17) - pathogenic g.15685853_15685854del g.15644346_15644347del - - BTD_000075 - PubMed: Pomponio 2000 - - Germline - - - 0 - Jasper Saris
?/? 4 c.511G>A r.(?) p.(Ala171Thr) - VUS g.15685874G>A g.15644367G>A - - BTD_000076 - - - rs13073139 Germline - - - 0 - Jasper Saris
+/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Norrgard 1997 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
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