Full data view for gene MBTPS2

Information The variants shown are described using the NM_015884.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1 c.-262C>A r.(?) p.? Unknown - VUS g.21857591C>A g.21839473C>A - - MBTPS2_000002 - - - rs6528055 Germline - 0.14-0.39 - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.76-328G>C r.(=) p.(=) Maternal (inferred) - VUS g.21860960G>C g.21842842G>C - - MBTPS2_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 1i c.76-328G>C r.(?) p.(=) Unknown - VUS g.21860960G>C g.21842842G>C - - MBTPS2_000003 - - - rs6528056 Germline - 0.24 - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.197G>C r.(?) p.(Arg66Pro) Unknown - VUS g.21861409G>C g.21843291G>C - - MBTPS2_000004 - - - rs5951639 Germline - 0.00 - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.222A>G r.(?) p.(=) Maternal (inferred) - VUS g.21861434A>G g.21843316A>G - - MBTPS2_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.222A>G r.(?) p.(=) Maternal (inferred) - VUS g.21861434A>G g.21843316A>G - - MBTPS2_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. 2 c.222A>G r.(?) p.(=) Unknown - likely pathogenic g.21861434A>G g.21843316A>G - - MBTPS2_000005 association with plasma HDLC levels (women) PubMed: Lu 2008 - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 Emmelien Aten
-/. 2 c.222A>G r.(?) p.(Gln74=) Unknown - benign g.21861434A>G g.21843316A>G - - MBTPS2_000005 - - - rs3213451 Unknown - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome - PubMed: Tang - M - China - - 0 - - 1 Emmelien Aten
?/. 2 c.222A>G r.(?) p.(=) Unknown - VUS g.21861434A>G g.21843316A>G - - MBTPS2_000005 - - - rs3213451 Germline - 0.24-0.57 - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.224+51G>A r.(?) p.(=) Unknown - VUS g.21861487G>A g.21843369G>A - - MBTPS2_000006 - - - rs3213452 Germline - 0.00-0.005 - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.225-371G>A r.(?) p.(=) Unknown - VUS g.21862918G>A g.21844800G>A - - MBTPS2_000007 - - - rs7057211 Germline - 0.00-0.002 - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.255-6T>A r.255_256ins256-4_256-1 p.Trp75* Maternal (confirmed) - pathogenic g.21863313T>A g.21845195T>A c.225-6A - MBTPS2_000022 not in 225 control chromosomes; splicing studied using minigene construct Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Oeffner 2009, PubMed: Oeffner 2011 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam6PatII1 PubMed: Oeffner 2009 Fam6PatII1 M - Algeria - - 0 - - 1 Emmelien Aten
+/. 2i c.255-6T>A r.spl? p.? Maternal (confirmed) - pathogenic g.21863313T>A g.21845195T>A c.225-6A - MBTPS2_000022 not in 225 control chromosomes Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam6PatII4 PubMed: Oeffner 2009 Fam6PatII4 M - Algeria - - 0 - - 1 Emmelien Aten
+/. 2i c.255-6T>A r.spl? p.? Maternal (inferred) - pathogenic g.21863313T>A g.21845195T>A c.225-6A/WT - MBTPS2_000022 not in 225 control chromosomes Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam6PatI2 PubMed: Oeffner 2009 ion family, 2 affected brothers and carrier mother PatI2 F - Algeria - - 0 - - 3 Emmelien Aten
+/. 3 c.261G>A r.(?) p.(Met87Ile) Maternal (inferred) - pathogenic g.21863325G>A g.21845207G>A - - MBTPS2_000018 - PubMed: Ming 2009 - - Unknown - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome - PubMed: Ming 2009 maternal second cousin of 19361614.Fam2-I.2, mother of 19361614.Fam2-III.1 / .2 M - Australia European - 0 - - 1 Emmelien Aten
+/. 3 c.261G>A r.(?) p.(Met87Ile) Parent #2 - pathogenic g.21863325G>A g.21845207G>A c.261A/WT - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam2PatI2 PubMed: Oeffner 2009 4-generation family, 4 affected carriers (2F, 2M)/3 unaffected carriers (3F), Fam2PatI2 F - Australia European - 0 - - 7 Emmelien Aten
+/. 3 c.261G>A r.(?) p.(Met87Ile) Maternal (confirmed) - pathogenic g.21863325G>A g.21845207G>A c.261A/WT - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam2PatII2 PubMed: Oeffner 2009 Fam2PatII2 F - Australia European - 0 - - 1 Emmelien Aten
+/. 3 c.261G>A r.(?) p.(Met87Ile) Maternal (confirmed) - pathogenic g.21863325G>A g.21845207G>A c.261A/WT - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam2PatIII2 PubMed: Oeffner 2009 Fam2PatIII2 F - Australia European - 0 - - 1 Emmelien Aten
+/. 3 c.261G>A r.(?) p.(Met87Ile) Maternal (confirmed) - pathogenic g.21863325G>A g.21845207G>A c.261A/WT - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam2PatIII9 PubMed: Oeffner 2009 Fam2PatIII9 F - Australia European - 0 - - 1 Emmelien Aten
+/. 3 c.261G>A r.(?) p.(Met87Ile) Maternal (confirmed) - pathogenic g.21863325G>A g.21845207G>A c.261A/WT - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam2PatIII10 PubMed: Oeffner 2009 Fam2PatIII10 F - Australia European - 0 - - 1 Emmelien Aten
+?/. 3 c.261G>A r.(?) p.Met87Ile Maternal (inferred) - likely pathogenic g.21863325G>A g.21845207G>A - - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness PubMed: Oeffner 2009; PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA arrayCGH, SEQ, SSCA - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam10PatII1 PubMed: Bornholdt 2013 - M ? Sweden - - 0 - - 1 Karl-Heinz Grzeschik
+?/. 3 c.261G>A r.(?) p.Met87Ile Maternal (inferred) - likely pathogenic g.21863325G>A g.21845207G>A - - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness PubMed: Oeffner 2009; PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA arrayCGH, SEQ, SSCA - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam12PatII1 PubMed: Bornholdt 2013 2-generation family, 2 affected males M ? United Kingdom (Great Britain) - - 0 - - 3 Karl-Heinz Grzeschik
+?/. 3 c.261G>A r.(?) p.Met87Ile Unknown - likely pathogenic g.21863325G>A g.21845207G>A - - MBTPS2_000018 Genotype not analyzed in this patient; not in 225 control chromosomes; previously mapped using linkage in other family;cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness PubMed: Oeffner 2009; PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam12PatII2 PubMed: Bornholdt 2013 affected brother of Fam12PatII1, genotype not analyzed M ? United Kingdom (Great Britain) - - 0 - - 1 Karl-Heinz Grzeschik
+?/. 3 c.261G>A r.(?) p.Met87Ile Unknown - likely pathogenic g.21863325G>A g.21845207G>A - - MBTPS2_000018 Genotype not analyzed in this patient; not in 225 control chromosomes; previously mapped using linkage in other family;cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness PubMed: Oeffner 2009; PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam12PatI1 PubMed: Bornholdt 2013 mother of Fam12PatII1 and Fam12PatII2, genotype not analyzed F ? United Kingdom (Great Britain) - - 0 - - 1 Karl-Heinz Grzeschik
+/. 3 c.261G>A r.(?) p.(Met87Ile) Maternal (confirmed) - pathogenic g.21863325G>A g.21845207G>A c.261A - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam2PatII8 PubMed: Oeffner 2009 Fam2PatII8 M - Australia European - 0 - - 1 Emmelien Aten
+/. 3 c.261G>A r.(?) p.(Met87Ile) Maternal (confirmed) - pathogenic g.21863325G>A g.21845207G>A c.261A - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam2PatIII1 PubMed: Oeffner 2009 Fam2PatIII1 M - Australia European - 0 - - 1 Emmelien Aten
+/. 3 c.261G>A r.(?) p.(Met87Ile) Maternal (confirmed) - pathogenic g.21863325G>A g.21845207G>A c.261A - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam2PatIV2 PubMed: Oeffner 2009 Fam2PatIV2 M - Australia European - 0 - - 1 Emmelien Aten
-/. 3 c.261G>A r.(?) p.Met87Ile Unknown - NA g.21863325G>A g.21845207G>A - - MBTPS2_000018 cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.261G>A r.(?) p.Met87Ile Unknown - NA g.21863325G>A g.21845207G>A - - MBTPS2_000018 cloned in EYFP fusion construc in pcDNA3.1; CHO expression limited complementation SP2 deficiency PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.261G>A r.(?) p.Met87Ile Unknown - NA g.21863325G>A g.21845207G>A - - MBTPS2_000018 cloned in EYFP fusion construc in pcDNA3.1; CHO expression reduced sterol resposiveness PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.291G>A r.(?) p.(Thr97=) Unknown - likely benign g.21863355G>A g.21845237G>A MBTPS2(NM_015884.3):c.291G>A (p.T97=) - MBTPS2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.291G>A r.(?) p.(Thr97=) Unknown - benign g.21863355G>A g.21845237G>A MBTPS2(NM_015884.3):c.291G>A (p.T97=) - MBTPS2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307G>A r.(?) p.(Ala103Thr) Unknown - likely benign g.21863371G>A g.21845253G>A MBTPS2(NM_015884.3):c.307G>A (p.A103T) - MBTPS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.338A>C r.(?) p.(Tyr113Ser) Unknown - VUS g.21863402A>C g.21845284A>C - - MBTPS2_000008 - - - rs7059508 Germline - 0.00 - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.339C>T r.(?) p.(=) Unknown - VUS g.21863403C>T g.21845285C>T - - MBTPS2_000009 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs7063422 Germline - 0.00 - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.366_383del r.(?) p.(Ser131_Ser136del) Unknown - likely benign g.21863430_21863447del g.21845312_21845329del MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del) - MBTPS2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366_383del r.(?) p.(Ser131_Ser136del) Unknown - likely benign g.21863430_21863447del g.21845312_21845329del MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del) - MBTPS2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.387_389del Ser130del p.(Ser136del) Unknown - VUS g.21863451_21863453del g.21845333_21845335del - - MBTPS2_000010 - - - rs3834687 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.390_392del r.(?) p.(Ser136del) Unknown - likely benign g.21863454_21863456del g.21845336_21845338del MBTPS2(NM_015884.3):c.390_392delATC (p.S136del) - MBTPS2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>A r.(?) p.(Ser136=) Unknown - likely benign g.21863472G>A g.21845354G>A MBTPS2(NM_015884.3):c.408G>A (p.S136=) - MBTPS2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3i c.438+59A>C r.(?) p.(=) Unknown - VUS g.21863561A>C g.21845443A>C - - MBTPS2_000011 - - - rs7063399 Germline - 0.00-0.08 - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.459C>T r.(?) p.(Pro153=) Unknown - likely benign g.21869647C>T g.21851529C>T MBTPS2(NM_015884.3):c.459C>T (p.P153=) - MBTPS2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.485C>T r.(?) p.(Thr162Met) Unknown - VUS g.21869673C>T g.21851555C>T MBTPS2(NM_015884.3):c.485C>T (p.T162M, p.(Thr162Met)) - MBTPS2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.485C>T r.(?) p.(Thr162Met) Unknown - likely benign g.21869673C>T g.21851555C>T MBTPS2(NM_015884.3):c.485C>T (p.T162M, p.(Thr162Met)) - MBTPS2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.485C>T r.(?) p.(Thr162Met) Unknown - likely benign g.21869673C>T g.21851555C>T MBTPS2(NM_015884.3):c.485C>T (p.T162M, p.(Thr162Met)) - MBTPS2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.542+253A>G r.(=) p.(=) Maternal (inferred) - VUS g.21869983A>G g.21851865A>G - - MBTPS2_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.542+253A>G r.(=) p.(=) Maternal (inferred) - VUS g.21869983A>G g.21851865A>G - - MBTPS2_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4i c.542+253A>G r.(?) p.(=) Unknown - VUS g.21869983A>G g.21851865A>G - - MBTPS2_000012 - - - rs2071210 Germline - 0.12-0.20 - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.639G>A r.(?) p.(Ser213=) Unknown - likely benign g.21871590G>A g.21853472G>A MBTPS2(NM_015884.3):c.639G>A (p.S213=) - MBTPS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670+2766T>C r.(=) p.(=) Maternal (inferred) - VUS g.21874387T>C g.21856269T>C - - MBTPS2_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.670+2766T>C r.(=) p.(=) Maternal (inferred) - VUS g.21874387T>C g.21856269T>C - - MBTPS2_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.670+3074T>G r.(=) p.(=) Unknown - likely benign g.21874695T>G g.21856577T>G YY2(NM_206923.3):c.93T>G (p.P31=) - MBTPS2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670+3250A>G r.(=) p.(=) Unknown - likely benign g.21874871A>G g.21856753A>G YY2(NM_206923.3):c.269A>G (p.Y90C) - MBTPS2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670+3899C>T r.(=) p.(=) Unknown - likely benign g.21875520C>T g.21857402C>T YY2(NM_206923.3):c.918C>T (p.T306=) - MBTPS2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670+3993G>A r.(=) p.(=) Unknown - likely benign g.21875614G>A g.21857496G>A YY2(NM_206923.3):c.1012G>A (p.(Asp338Asn)) - MBTPS2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670+4027A>G r.(=) p.(=) Unknown - VUS g.21875648A>G g.21857530A>G YY2(NM_206923.3):c.1046A>G (p.N349S, p.(Asn349Ser)) - MBTPS2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.670+4027A>G r.(=) p.(=) Unknown - VUS g.21875648A>G g.21857530A>G YY2(NM_206923.3):c.1046A>G (p.N349S, p.(Asn349Ser)) - MBTPS2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670+4200del r.(=) p.(=) Maternal (inferred) - VUS g.21875821del g.21857703del - - MBTPS2_000049 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.670+4200del r.(=) p.(=) Maternal (inferred) - VUS g.21875821del g.21857703del - - MBTPS2_000049 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.670+4491A>G r.(=) p.(=) Maternal (inferred) - VUS g.21876112A>G g.21857994A>G - - MBTPS2_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 5i c.671-9T>G r.671_789del p.Ile225Leufs*25 Unknown - pathogenic g.21886576T>G g.21868458T>G - - MBTPS2_000028 patient RNA analysis and minigene construct PubMed: Oeffner 2011 - - Germline - - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - IFAP syndrome with or without BRESHECK syndrome 21426410-Pat2 PubMed: Oeffner 2011 - M - - white - 0 - - 1 Emmelien Aten
+/. 5i c.671-9T>G r.671_789del p.Ile225Leufs*25 Unknown - pathogenic g.21886576T>G g.21868458T>G - - MBTPS2_000028 - PubMed: Oeffner 2011 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - IFAP syndrome with or without BRESHECK syndrome 21426410-Pat3 PubMed: Oeffner 2011 - M - - Ashkenazi jewish - 0 - - 1 Johan den Dunnen
+/. 6 c.677G>T r.(?) p.(Trp226Leu) Maternal (confirmed) - pathogenic g.21886591G>T g.21868473G>T c.677T - MBTPS2_000020 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - BstXI 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam4PatI1 PubMed: Oeffner 2009 mildly affected mother (dry skin, bald patches scalp) M - Spain European - 0 - - 1 Emmelien Aten
-/. 6 c.677G>T r.(?) p.Trp226Leu Unknown - NA g.21886591G>T g.21868473G>T - - MBTPS2_000020 cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.677G>T r.(?) p.Trp226Leu Unknown - NA g.21886591G>T g.21868473G>T - - MBTPS2_000020 cloned in EYFP fusion construc in pcDNA3.1; CHO expression limited complementation SP2 deficiency PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.677G>T r.(?) p.Trp226Leu Unknown - NA g.21886591G>T g.21868473G>T - - MBTPS2_000020 cloned in EYFP fusion construc in pcDNA3.1; CHO expression reduced sterol resposiveness PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.680A>T r.(?) p.(His227Leu) Parent #2 - pathogenic g.21886594A>T g.21868476A>T c.680T/WT - MBTPS2_000001 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam1PatI2 PubMed: Oeffner 2009 3-generation family, 5 affected carriers (3F, 2M), Fam1PatI2 F - Germany European - 0 - - 5 Emmelien Aten
+/. 6 c.680A>T r.(?) p.(His227Leu) Maternal (confirmed) - pathogenic g.21886594A>T g.21868476A>T c.680T/WT - MBTPS2_000001 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam1PatII2 PubMed: Oeffner 2009 Fam1PatII2 F - Germany European - 0 - - 1 Emmelien Aten
+/. 6 c.680A>T r.(?) p.(His227Leu) Maternal (confirmed) - pathogenic g.21886594A>T g.21868476A>T c.680T/WT - MBTPS2_000001 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - ? 19361614-Fam1PatIII2 PubMed: Oeffner 2009 Fam1PatIII2 F - Germany European - 0 - - 1 Emmelien Aten
+/. 6 c.680A>T r.(?) p.(His227Leu) Maternal (inferred) - pathogenic g.21886594A>T g.21868476A>T - - MBTPS2_000001 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam1PatII5 PubMed: Oeffner 2009 Fam1PatII5 M - Germany European - 0 - - 1 Emmelien Aten
+/. 6 c.680A>T r.(?) p.(His227Leu) Maternal (confirmed) - pathogenic g.21886594A>T g.21868476A>T c.680T - MBTPS2_000001 not in 225 control chromosomes; mapped using linkage PubMed: Oeffner 2009 - - Germline - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam1PatIII1 PubMed: Oeffner 2009 Fam1PatIII1 M - Germany European - 0 - - 1 Emmelien Aten
-/. 6 c.680A>T r.(?) p.His227Leu Unknown - NA g.21886594A>T g.21868476A>T - - MBTPS2_000001 cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.680A>T r.(?) p.His227Leu Unknown - NA g.21886594A>T g.21868476A>T - - MBTPS2_000001 cloned in EYFP fusion construc in pcDNA3.1; CHO expression limited complementation SP2 deficiency PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 6 c.680A>T r.(?) p.His227Leu Unknown - NA g.21886594A>T g.21868476A>T - - MBTPS2_000001 cloned in EYFP fusion construc in pcDNA3.1; CHO expression restores sterol resposiveness PubMed: Oeffner 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.686T>C r.(?) Phe229Ser Maternal (inferred) - likely pathogenic g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA PCR, SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam7PatII1 PubMed: Bornholdt 2013 - M no France - - 0 - - 4 Karl-Heinz Grzeschik
+?/. 6 c.686T>C r.(?) Phe229Ser Unknown - likely pathogenic g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA PCR, SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam7PatI1 PubMed: Bornholdt 2013 - F ? France - - 0 - - 1 Karl-Heinz Grzeschik
+?/. 6 c.686T>C r.(?) Phe229Ser Unknown - likely pathogenic g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA PCR, SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam7PatI3 PubMed: Bornholdt 2013 sister of Fam7PatI1 F ? France - - 0 - - 1 Karl-Heinz Grzeschik
+?/. 6 c.686T>C r.(?) Phe229Ser Maternal (inferred) - likely pathogenic g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA PCR, SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam7PatII2 PubMed: Bornholdt 2013 daughter of Fam7PatI3 F no France - - 0 - - 1 Karl-Heinz Grzeschik
?/. - c.706A>G r.(?) p.(Ile236Val) Unknown - VUS g.21886620A>G g.21868502A>G MBTPS2(NM_015884.3):c.706A>G (p.(Ile236Val)) - MBTPS2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.758G>C r.(?) Gly253Ala Unknown - likely pathogenic g.21886672G>C g.21868554G>C - - MBTPS2_000030 Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness PubMed: Bornholdt 2012 - - Germline - - - 0 - DNA PCRdig, SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam8PatII2 PubMed: Bornholdt 2013 - M ? Germany - - 0 - - 2 Karl-Heinz Grzeschik
+?/. 6 c.758G>C r.(?) Gly253Ala Unknown - likely pathogenic g.21886672G>C g.21868554G>C - - MBTPS2_000030 Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness PubMed: Bornholdt 2012 - - Germline - - PstI 0 - DNA PCRdig, SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam8PatII1 PubMed: Bornholdt 2013 sister of Fam8PatII2 F ? Germany - - 0 - - 1 Karl-Heinz Grzeschik
?/. 6 c.774C>G r.(?) p.Ile258Met Unknown - VUS g.21886688C>G g.21868570C>G - - MBTPS2_000033 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Unknown - - PagI 0 - DNA PCRdig, SEQ - - IFAP syndrome with or without BRESHECK syndrome 23316014-Fam16PatI1 PubMed: Bornholdt 2013 - M ? United States - - 0 - - 1 Karl-Heinz Grzeschik
?/. 6i c.789+104C>T r.(?) p.(=) Unknown - VUS g.21886807C>T g.21868689C>T - - MBTPS2_000013 - - - rs6653655 Germline - 0.00-0.04 - 0 - - - - - - - - - - - - - - - - - - -
?/. 6i c.790-229C>T r.(?) p.(=) Unknown - VUS g.21887387C>T g.21869269C>T - - MBTPS2_000014 - - - rs2071191 Germline - 0.13-0.40 - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.970+1309C>T r.(=) p.(=) Maternal (inferred) - VUS g.21889105C>T g.21870987C>T - - MBTPS2_000043 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.970+1309C>T r.(=) p.(=) Maternal (inferred) - VUS g.21889105C>T g.21870987C>T - - MBTPS2_000043 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1061G>A r.(?) p.(Arg354His) Unknown - likely benign g.21896250G>A g.21878132G>A MBTPS2(NM_015884.3):c.1061G>A (p.R354H) - MBTPS2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1102A>T r.(?) p.(Thr368Ser) Unknown - likely benign g.21896651A>T - MBTPS2(NM_015884.3):c.1102A>T (p.T368S) - MBTPS2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1237C>T r.(?) p.(His413Tyr) Unknown - likely benign g.21896786C>T g.21878668C>T MBTPS2(NM_015884.3):c.1237C>T (p.H413Y) - MBTPS2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 9i c.1261+103A>G r.(?) p.(=) Unknown - VUS g.21896913A>G g.21878795A>G - - MBTPS2_000015 - - - rs3752405 Germline - 0.03-0.33 - 0 - - - - - - - - - - - - - - - - - - -
?/. 9i c.1262-173C>A r.(?) p.(=) Unknown - VUS g.21898842C>A g.21880724C>A - - MBTPS2_000016 - - - rs6633469 Germline - 0.03-0.33 - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.1286G>A r.(?) p.(Arg429His) Maternal (inferred) - pathogenic g.21899039G>A g.21880921G>A - - MBTPS2_000019 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - TaiI 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam3PatIII3 PubMed: Oeffner 2009 Fam3PatIII3 M - Germany European - 0 - - 1 Emmelien Aten
+/. 10 c.1286G>A r.(?) p.(Arg429His) Maternal (inferred) - pathogenic g.21899039G>A g.21880921G>A - - MBTPS2_000019 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - TaiI 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome 19361614-Fam3PatIII4 PubMed: Oeffner 2009 Fam3PatIII4 M - Germany European - 0 - - 1 Emmelien Aten
+/. 10 c.1286G>A r.(?) p.(Arg429His) Maternal (inferred) - pathogenic g.21899039G>A g.21880921G>A - - MBTPS2_000019 - Schwartz 2009, Workshop Fragile-X and XLMR, A96 - - Unknown - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome - - borther of Fam1.b M - United Kingdom (Great Britain) - - 0 - - 1 Emmelien Aten
+/. 10 c.1286G>A r.(?) p.(Arg429His) Maternal (inferred) - pathogenic g.21899039G>A g.21880921G>A - - MBTPS2_000019 - Schwartz 2009, Workshop Fragile-X and XLMR, A96 - - Unknown - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome - - borther of Fam1.a M - United Kingdom (Great Britain) - - 0 - - 1 Emmelien Aten
+/. 10 c.1286G>A r.(?) p.(Arg429His) Unknown - pathogenic g.21899039G>A g.21880921G>A - - MBTPS2_000019 - PubMed: Nakayama 2011 - - Unknown - - - 0 - DNA SEQ - - IFAP syndrome with or without BRESHECK syndrome - - - M - Japan - - 0 - - 1 Emmelien Aten
+/. 10 c.1286G>A r.(?) p.(Arg429His) Parent #2 - pathogenic g.21899039G>A g.21880921G>A c.1286A/WT - MBTPS2_000019 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - TaiI 0 - DNA SEQ - - ? 19361614-Fam3PatI2 PubMed: Oeffner 2009 3-generation family, 6 affected carriers (2F, 4M)/3 unaffected carriers (3F), Fam2PatI2 F - Germany European - 0 - - 9 Emmelien Aten
+/. 10 c.1286G>A r.(?) p.(Arg429His) Maternal (confirmed) - pathogenic g.21899039G>A g.21880921G>A c.1286A/WT - MBTPS2_000019 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - TaiI 0 - DNA SEQ - - ? 19361614-Fam3PatII2 PubMed: Oeffner 2009 Fam3PatII2 F - Germany European - 0 - - 1 Emmelien Aten
+/. 10 c.1286G>A r.(?) p.(Arg429His) Maternal (confirmed) - pathogenic g.21899039G>A g.21880921G>A c.1286A/WT - MBTPS2_000019 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - TaiI 0 - DNA SEQ - - ? 19361614-Fam3PatII4 PubMed: Oeffner 2009 Fam3PatII4 F - Germany European - 0 - - 1 Emmelien Aten
+/. 10 c.1286G>A r.(?) p.(Arg429His) Maternal (confirmed) - pathogenic g.21899039G>A g.21880921G>A c.1286A/WT - MBTPS2_000019 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - TaiI 0 - DNA SEQ - - ? 19361614-Fam3PatII5 PubMed: Oeffner 2009 Fam3PatII5 F - Germany European - 0 - - 1 Emmelien Aten
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