Unique variants in the BTD gene

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

153 entries on 2 pages. Showing entries 1 - 100.
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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.-315A>G r.(?) p.(=) - benign g.15643043A>G g.15601536A>G HACL1(NM_012260.4):c.-73T>C - BTD_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-130A>C r.(?) p.(=) - VUS g.15643228A>C - BTD(NM_001281723.2):c.1A>C (p.M1?) - BTD_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 17 1_4 c.= r.(?) p.(=) - benign g.? - - - BTD_000000 - PubMed: Wiltink 2016 - - Germline - - - - - Jasper Saris
+/. 4 1_4 c.? r.(?) p.? - pathogenic g.? - - - BTD_000000 unknown variant PubMed: Milankovics 2007, PubMed: Muhl 2001, PubMed: Pomponio 1997, PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
+/. 1 - 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
+/+, +/., +/?, ?/? 5 2 c.98_104delinsTCC r.(?) p.(Cys33Phefs*36), p.(Cys33PhefsTer36) - pathogenic, VUS g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC 98-104del7ins3, BTD(NM_000060.4):c.98_104delGCGGCTGinsTCC (p.C33Ffs*36) - BTD_000109 no variant 2nd chromosome, VKGL data sharing initiative Nederland PubMed: Ganapathy 2019, PubMed: Pomponio 1995, OMIM:var0001, PubMed: Wiltink 2016 - rs80338684 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Jasper Saris, VKGL-NL_Rotterdam
+/+, +/. 2 2 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 PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/., -/., -?/., ?/., ?/? 10 2 c.133G>A r.(?) p.(Gly45Arg) - benign, likely benign, pathogenic, VUS g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.3):c.73G>A (p.G25R) - BTD_000024 conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Norrgard 1999, PubMed: Wiltink 2016 - rs34885143 CLASSIFICATION record, Germline - 19/2795 individuals - - - Gerard C.P. Schaafsma, Jasper Saris, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Mohammed Faruq
+/. 1 2 c.136G>T r.(?) p.(Glu46*) - pathogenic g.15677022G>T g.15635515G>T - - BTD_000029 - PubMed: Milankovics 2007 - - Germline - - - - - Jasper Saris
+/. 1 2 c.159C>A r.(?) p.(His53Gln) - pathogenic g.15677045C>A g.15635538C>A - - BTD_000040 - PubMed: Wolf 2005 - - Germline - - - - - Jasper Saris
+/. 1 2 c.160G>T r.(?) p.(Glu54*) - pathogenic g.15677046G>T g.15635539G>T - - BTD_000041 - PubMed: Wolf 2005 - - Germline - - - - - Jasper Saris
+/. 1 2 c.171T>G r.(?) p.(Tyr57*) - pathogenic g.15677057T>G g.15635550T>G - - BTD_000047 - PubMed: Pomponio 2000 - - Germline - - - - - Jasper Saris
+/. 1 - c.173A>G r.(?) p.(Tyr58Cys) - pathogenic g.15677059A>G - BTD(NM_001281723.3):c.113A>G (p.Y38C) - BTD_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 2 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 PubMed: Muhl 2001 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/. 1 2 c.184G>T r.(?) p.(Val62Leu) - pathogenic g.15677070G>T g.15635563G>T - - BTD_000049 - PubMed: Norrgard 1999 - - Germline - - - - - Jasper Saris
+/. 1 2 c.190G>A r.(?) p.(Glu64Lys) - pathogenic g.15677076G>A g.15635569G>A - - BTD_000050 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
+/. 1 2 c.212T>C r.(?) p.(Leu71Pro) - pathogenic g.15677098T>C g.15635591T>C - - BTD_000051 - PubMed: Laszlo 2003 - - Germline - - - - - Jasper Saris
+/. 2 2 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 PubMed: Pomponio 2000 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/., ?/. 2 2 c.236G>A r.(?) p.(Arg79His) - pathogenic, VUS g.15677122G>A g.15635615G>A BTD(NM_000060.4):c.236G>A (p.R79H) - BTD_000053 VKGL data sharing initiative Nederland PubMed: Laszlo 2003 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/. 1 2 c.245C>A r.(?) p.(Ala82Asp) - pathogenic g.15677131C>A g.15635624C>A - - BTD_000054 - PubMed: Laszlo 2003 - - Germline - - - - - Jasper Saris
+/. 1 2 c.247_255del r.(?) p.(Leu83_Leu85del) - pathogenic g.15677133_15677141del g.15635626_15635634del - - BTD_000055 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
-?/., ?/? 2 2 c.261C>T r.(?) p.(=), p.(Asn87=) - likely benign, VUS g.15677147C>T g.15635640C>T BTD(NM_001323582.1):c.201C>T (p.N67=) - BTD_000121 VKGL data sharing initiative Nederland PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
-?/. 2 - c.262C>G r.(?) p.(Gln88Glu) - likely benign g.15677148C>G g.15635641C>G BTD(NM_001281723.3):c.202C>G (p.Q68E), BTD(NM_001323582.1):c.202C>G (p.Q68E) - BTD_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 2 c.262C>T r.(?) p.(Gln88*) - pathogenic g.15677148C>T g.15635641C>T - - BTD_000056 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
+/. 1 2 c.278A>G r.(?) p.(Tyr93Cys) - pathogenic g.15677164A>G g.15635657A>G - - BTD_000057 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
+/. 1 2 c.283C>T r.(?) p.(Gln95*) - pathogenic g.15677169C>T g.15635662C>T - - BTD_000058 - PubMed: Wolf 2005 - - Germline - - - - - Jasper Saris
+/. 1 2 c.289G>A r.(?) p.(Val97Met) - pathogenic g.15677175G>A g.15635668G>A - - BTD_000059 - PubMed: Norrgard 1999 - - Germline - - - - - Jasper Saris
+/. 1 2 c.298G>A r.(?) p.(Ala100Thr) - pathogenic g.15677184G>A g.15635677G>A - - BTD_000060 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
+/. 1 3 c.310G>T r.spl? p.(Asp104Tyr) - pathogenic g.15683415G>T g.15641908G>T - - BTD_000061 - PubMed: Norrgard 1999 - - Germline - - - - - Jasper Saris
+/. 1 3 c.326T>G r.(?) p.(Val109Gly) - pathogenic g.15683431T>G g.15641924T>G - - BTD_000062 - PubMed: Muhl 2001 - - Germline - - - - - Jasper Saris
+/. 1 3 c.334G>A r.(?) p.(Glu112Lys) - pathogenic g.15683439G>A g.15641932G>A - - BTD_000063 - PubMed: Laszlo 2003 - - Germline - - - - - Jasper Saris
+/. 1 3 c.334G>C r.(?) p.(Glu112Gln) - pathogenic g.15683439G>C g.15641932G>C - - BTD_000064 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
+/. 1 3 c.341G>T r.(?) p.(Gly114Val) - pathogenic g.15683446G>T g.15641939G>T - - BTD_000065 - PubMed: Wolf 2005 - - Germline - - - - - Jasper Saris
+/+, +/. 3 3 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 PubMed: Norrgard 1999, PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/. 1 3 c.382T>G r.(?) p.(Phe128Val) - pathogenic g.15683487T>G g.15641980T>G - - BTD_000067 - PubMed: Swango 1998 - - Germline - - - - - Jasper Saris
+/. 1 3 c.393del r.(?) p.(Phe131Leufs*28) - pathogenic g.15683498del g.15641991del - - BTD_000068 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
+/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.445T>C r.(?) p.(Phe149Leu) - pathogenic g.15683550T>C g.15642043T>C - - BTD_000069 - PubMed: Norrgard 1999 - - Germline - - - - - Jasper Saris
+/., ?/. 2 3 c.454A>C r.(?) p.(Thr152Pro) - pathogenic, VUS g.15683559A>C g.15642052A>C BTD(NM_000060.4):c.454A>C (p.T152P) - BTD_000070 VKGL data sharing initiative Nederland PubMed: Milankovics 2007 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/., ?/? 2 3i 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 PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
-?/. 1 - c.459+33G>A r.(=) p.(=) - likely benign g.15683597G>A - BTD(NM_001281726.1):c.492G>A (p.R164=) - BTD_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.466C>T r.(?) p.(Gln156*) - pathogenic g.15685829C>T g.15644322C>T - - BTD_000071 - PubMed: Pomponio 2000 - - Germline - - - - - Jasper Saris
+/. 1 4 c.469C>T r.(?) p.(Arg157Cys) - pathogenic g.15685832C>T g.15644325C>T - - BTD_000072 - PubMed: Milankovics 2007 - - Germline - - - - - Jasper Saris
+/+, +/., ?/. 6 4 c.470G>A r.(?) p.(Arg157His) - pathogenic, VUS g.15685833G>A g.15644326G>A BTD(NM_000060.4):c.470G>A (p.R157H) - BTD_000073 VKGL data sharing initiative Nederland PubMed: Pomponio 1997, PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.485C>T r.(?) p.(Ala162Val) - pathogenic g.15685848C>T g.15644341C>T - - BTD_000074 - PubMed: Norrgard 1999 - - Germline - - - - - Jasper Saris
+/. 1 4 c.490_491del r.(?) p.(Arg164Glyfs*17) - pathogenic g.15685853_15685854del g.15644346_15644347del - - BTD_000075 - PubMed: Pomponio 2000 - - Germline - - - - - Jasper Saris
+/., ?/., ?/? 16 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic, VUS g.15685874G>A g.15644367G>A BTD(NM_000060.4):c.511G>A (p.A171T) - BTD_000076 VKGL data sharing initiative Nederland PubMed: Norrgard 1997, PubMed: Wiltink 2016 - rs13073139 CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 4 c.515A>G r.(?) p.(Asn172Ser) - pathogenic g.15685878A>G g.15644371A>G - - BTD_000077 - PubMed: Muhl 2001 - - Germline - - - - - Jasper Saris
+/. 1 4 c.528G>T r.(?) p.(Lys176Asn) - pathogenic g.15685891G>T g.15644384G>T - - BTD_000078 - PubMed: Norrgard 1999 - - Germline - - - - - Jasper Saris
+/. 1 4 c.544del r.(?) p.(Ser182Valfs*82) - pathogenic g.15685907del g.15644400del - - BTD_000079 - PubMed: Pomponio 2000 - - Germline - - - - - Jasper Saris
+/. 2 4 c.557G>A r.(?) p.(Cys186Tyr) - pathogenic g.15685920G>A g.15644413G>A BTD(NM_000060.4):c.557G>A (p.C186Y) - BTD_000080 VKGL data sharing initiative Nederland PubMed: Pomponio 2000 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/. 1 4 c.583A>G r.(?) p.(Asn195Asp) - pathogenic g.15685946A>G g.15644439A>G - - BTD_000081 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
+/. 1 4 c.584A>G r.(?) p.(Asn195Ser) - pathogenic g.15685947A>G g.15644440A>G - - BTD_000082 - PubMed: Milankovics 2007 - - Germline - - - - - Jasper Saris
?/. 1 - c.585C>G r.(?) p.(Asn195Lys) - VUS g.15685948C>G g.15644441C>G - - BTD_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.587C>G r.(?) p.(Thr196Arg) - pathogenic g.15685950C>G g.15644443C>G - - BTD_000083 - PubMed: Pomponio 2000 - - Germline - - - - - Jasper Saris
+/. 1 4 c.594del r.(?) p.(Val199Cysfs*65) - pathogenic g.15685957del g.15644450del - - BTD_000085 - PubMed: Funghini 2002 - - Germline - - - - - Jasper Saris
+/. 1 4 c.594_596del r.(?) p.(Val199del) - pathogenic g.15685957_15685959del g.15644450_15644452del dC594-596 - BTD_000084 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
+/+, +/. 4 4 c.595G>A r.(?) p.(Val199Met) - pathogenic g.15685958G>A g.15644451G>A BTD(NM_000060.4):c.595G>A (p.V199M) - BTD_000086 VKGL data sharing initiative Nederland PubMed: Wiltink 2016, PubMed: Wolf 2002 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/. 1 - c.605A>T r.(?) p.(Asn202Ile) - pathogenic g.15685968A>T g.15644461A>T BTD(NM_000060.4):c.605A>T (p.N202I) - BTD_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.629A>G r.(?) p.(Tyr210Cys) - pathogenic g.15685992A>G g.15644485A>G - - BTD_000087 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
+/+, +/. 4 4 c.631C>T r.(?) p.(Arg211Cys) - pathogenic g.15685994C>T g.15644487C>T BTD(NM_000060.4):c.631C>T (p.R211C) - BTD_000088 VKGL data sharing initiative Nederland PubMed: Norrgard 1999, PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
?/. 1 - c.632G>A r.(?) p.(Arg211His) - VUS g.15685995G>A g.15644488G>A BTD(NM_000060.4):c.632G>A (p.R211H) - BTD_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.641A>G r.(?) p.(Asn214Ser) - pathogenic g.15686004A>G g.15644497A>G - - BTD_000089 - PubMed: Wolf 2005 - - Germline - - - - - Jasper Saris
+/. 1 4 c.643C>T r.(?) p.(Leu215Phe) - pathogenic g.15686006C>T g.15644499C>T - - BTD_000090 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
-?/., ?/? 3 4 c.645C>T r.(?) p.(=), p.(Leu215=) - likely benign, VUS g.15686008C>T g.15644501C>T BTD(NM_000060.4):c.645C>T (p.L215=) - BTD_000112 VKGL data sharing initiative Nederland PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
?/. 1 - c.651T>A r.(?) p.(Phe217Leu) - VUS g.15686014T>A g.15644507T>A BTD(NM_000060.4):c.651T>A (p.F217L) - BTD_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.652G>C r.(?) p.(Glu218Gln) - pathogenic g.15686015G>C g.15644508G>C - - BTD_000091 - PubMed: Laszlo 2003 - - Germline - - - - - Jasper Saris
+/. 1 4 c.654G>C r.(?) p.(Glu218Asp) - pathogenic g.15686017G>C g.15644510G>C - - BTD_000092 - PubMed: Wolf 2005 - - Germline - - - - - Jasper Saris
?/. 1 - c.664G>A r.(?) p.(Asp222Asn) - VUS g.15686027G>A - - - BTD_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.682G>T r.(?) p.(Asp228Tyr) - pathogenic g.15686045G>T g.15644538G>T - - BTD_000093 - PubMed: Swango 1998 - - Germline - - - - - Jasper Saris
+?/., ?/. 2 - c.701C>T r.(?) p.(Thr234Ile) - likely pathogenic, VUS g.15686064C>T g.15644557C>T BTD(NM_000060.4):c.701C>T (p.T234I) - BTD_000132 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs587783005 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
?/. 1 - c.722G>A r.(?) p.(Gly241Asp) - VUS g.15686085G>A g.15644578G>A BTD(NM_000060.4):c.722G>A (p.G241D) - BTD_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.731C>T r.(?) p.(Thr244Ile) - VUS g.15686094C>T g.15644587C>T BTD(NM_000060.4):c.731C>T (p.T244I) - BTD_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.734G>A r.(?) p.(Cys245Tyr) - pathogenic g.15686097G>A g.15644590G>A - - BTD_000094 - PubMed: Wolf 2005 - - Germline - - - - - Jasper Saris
+/., ?/., ?/? 3 4 c.755A>G r.(?) p.(Asp252Gly) - pathogenic, VUS g.15686118A>G g.15644611A>G BTD(NM_001281723.3):c.695A>G (p.D232G) - BTD_000095 VKGL data sharing initiative Nederland PubMed: Norrgard 1999 - rs28934601 CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Utrecht
?/. 1 - c.757C>A r.(?) p.(Pro253Thr) - VUS g.15686120C>A g.15644613C>A BTD(NM_001281723.3):c.697C>A (p.P233T) - BTD_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 4 c.757C>T r.(?) p.(Pro253Ser) - pathogenic g.15686120C>T g.15644613C>T - - BTD_000096 - PubMed: Wolf 2005 - - Germline - - - - - Jasper Saris
+/. 1 4 c.794A>T r.(?) p.(His265Leu) - pathogenic g.15686157A>T g.15644650A>T - - BTD_000097 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
+/. 1 4 c.832C>G r.(?) p.(Leu278Val) - pathogenic g.15686195C>G g.15644688C>G - - BTD_000098 - PubMed: Laszlo 2003 - - Germline - - - - - Jasper Saris
+/. 1 4 c.833T>C r.(?) p.(Leu278Pro) - pathogenic g.15686196T>C g.15644689T>C - - BTD_000099 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
+/. 1 4 c.836T>G r.(?) p.(Leu279Trp) - pathogenic g.15686199T>G g.15644692T>G - - BTD_000100 - PubMed: Muhl 2001 - - Germline - - - - - Jasper Saris
+/. 1 4 c.865G>C r.(?) p.(Ala289Pro) - pathogenic g.15686228G>C g.15644721G>C - - BTD_000101 - PubMed: Norrgard 1999 - - Germline - - - - - Jasper Saris
-?/. 1 - c.880A>G r.(?) p.(Ile294Val) - likely benign g.15686243A>G g.15644736A>G BTD(NM_001281723.3):c.820A>G (p.I274V) - BTD_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 4 c.887T>G r.(?) p.(Val296Gly) - pathogenic g.15686250T>G g.15644743T>G - - BTD_000102 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
?/., ?/? 2 4 c.895G>C r.(?) p.(Ala299Pro) - VUS g.15686258G>C, g.? g.15644751G>C BTD(NM_000060.4):c.895G>C (p.A299P) - BTD_000000 VKGL data sharing initiative Nederland PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/. 1 4 c.929G>A r.(?) p.(Gly310Glu) - pathogenic g.15686292G>A g.15644785G>A - - BTD_000103 - PubMed: Pomponio 2000 - - Germline - - - - - Jasper Saris
+/. 1 4 c.932G>A r.(?) p.(Ser311Asn) - pathogenic g.15686295G>A g.15644788G>A - - BTD_000104 - PubMed: Norrgard 1999 - - Germline - - - - - Jasper Saris
+/., +?/. 2 4 c.933del r.(?) p.(Ser311Argfs*23) - likely pathogenic, pathogenic g.15686296del g.15644789del - - BTD_000105, BTD_000150 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Pomponio 1997 - rs397514395 Germline - 1/2795 individuals - - - Jasper Saris, Mohammed Faruq
+/. 1 4 c.934G>A r.(?) p.(Gly312Ser) - pathogenic g.15686297G>A g.15644790G>A - - BTD_000106 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
+/. 1 4 c.935G>A r.(?) p.(Gly312Asp) - pathogenic g.15686298G>A g.15644791G>A - - BTD_000107 - PubMed: Pomponio 1997 - - Germline - - - - - Jasper Saris
+/+, +/., ?/. 3 4 c.968A>G r.(?) p.(His323Arg) - pathogenic, VUS g.15686331A>G g.15644824A>G - - BTD_000108 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Swango 1998, PubMed: Wiltink 2016 - rs397507176 Germline - 3/2793 individuals - - - Jasper Saris, Mohammed Faruq
+/. 1 4 c.1049del r.(?) p.(Ala350Glufs*13) - pathogenic g.15686412del g.15644905del - - BTD_000001 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
+/. 2 4 c.1052del r.(?) p.(Thr351Lysfs*12) - pathogenic g.15686415del g.15644908del - - BTD_000002 - PubMed: Wolf 2002 - - Germline - - - - - Gerard C.P. Schaafsma, Jasper Saris
-?/. 2 4 c.1062G>A r.(?) p.(Thr354=) - likely benign g.15686425G>A g.15644918G>A BTD(NM_000060.4):c.1062G>A (p.T354=) - BTD_000110 normal BTD activity in parent, probable in index, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - rare - - - Jasper Saris, VKGL-NL_Rotterdam
+/+, +/. 3 4 c.1090dup r.(?) p.(Ile364Asnfs*9), p.(Ile364AsnfsTer9) - pathogenic g.15686453dup g.15644946dup BTD(NM_000060.4):c.1090dupA (p.I364Nfs*9) - BTD_000122, BTD_000137 VKGL data sharing initiative Nederland PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
-?/., ?/? 2 4 c.1101C>T r.(?) p.(=), p.(Gly367=) - likely benign, VUS g.15686464C>T g.15644957C>T BTD(NM_000060.4):c.1101C>T (p.G367=) - BTD_000113 VKGL data sharing initiative Nederland PubMed: Wiltink 2016 - - CLASSIFICATION record, Germline - - - - - Jasper Saris, VKGL-NL_Rotterdam
+/. 1 4 c.1106C>T r.(?) p.(Pro369Leu) - pathogenic g.15686469C>T g.15644962C>T - - BTD_000003 - PubMed: Wolf 2002 - - Germline - - - - - Jasper Saris
+/. 1 4 c.1157G>A r.(?) p.(Trp386*) - pathogenic g.15686520G>A g.15645013G>A - - BTD_000004 - PubMed: Wang 2009 - - Germline - - - - - Jasper Saris
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