Full data view for gene MBTPS2


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_015884.3 transcript reference sequence.

202 entries on 3 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 - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.(2T>C) p.(Met1?) Unknown - pathogenic (recessive) g.21857854T>C g.21839736T>C - - MBTPS2_000096 - PubMed: Chen 2020 - - De novo - - - - - DNA SEQ-NG - gene panel IFAP patient PubMed: Chen 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
-?/. - c.30G>C r.(?) p.(Val10=) Unknown - likely benign g.21857882G>C - MBTPS2(NM_015884.3):c.30G>C (p.V10=), MBTPS2(NM_015884.4):c.30G>C (p.V10=) - MBTPS2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30G>C r.(?) p.(Val10=) Unknown - likely benign g.21857882G>C - MBTPS2(NM_015884.3):c.30G>C (p.V10=), MBTPS2(NM_015884.4):c.30G>C (p.V10=) - MBTPS2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.71T>C r.(?) p.(Leu24Pro) Maternal (confirmed) - pathogenic (recessive) g.21857923T>C g.21839805T>C - - MBTPS2_000093 - PubMed: Izumi 2013 - - Germline - - - - - DNA SEQ - - IFAP patient PubMed: Izumi 2013 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
?/. - 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 - - - - - 1 Yu Sun
?/. 1i c.76-328G>C r.(?) p.(=) Unknown - VUS g.21860960G>C g.21842842G>C - - MBTPS2_000003 - - - rs6528056 Germline - 0.24 - - - - - - - - - - - - - - - - - - - - -
+/. - c.154T>A r.(?) p.(Trp52Arg) Maternal (confirmed) - pathogenic (recessive) g.21861366T>A g.21843248T>A - - MBTPS2_000098 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IFAP family PubMed: Khan 2019 2-generation family, 2 affected brothers, carrier mother M - United Arab Emirates - - - - - 2 Johan den Dunnen
?/. 2 c.197G>C r.(?) p.(Arg66Pro) Unknown - VUS g.21861409G>C g.21843291G>C - - MBTPS2_000004 - - - rs5951639 Germline - 0.00 - - - - - - - - - - - - - - - - - - - - -
-?/. - c.217T>A r.(?) p.(Tyr73Asn) Unknown - likely benign g.21861429T>A - MBTPS2(NM_015884.3):c.217T>A (p.Y73N) - MBTPS2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - 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 - - - - - 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 - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 Emmelien Aten
-/. 2 c.222A>G r.(?) p.(Gln74=) Unknown - benign g.21861434A>G g.21843316A>G - - MBTPS2_000005 - - - rs3213451 Unknown - - - - - DNA SEQ - - IFAP1 patient PubMed: Tang 2011 - M - China - - - - - 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 - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.224+51G>A r.(?) p.(=) Unknown - VUS g.21861487G>A g.21843369G>A - - MBTPS2_000006 - - - rs3213452 Germline - 0.00-0.005 - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.225-371G>A r.(?) p.(=) Unknown - VUS g.21862918G>A g.21844800G>A - - MBTPS2_000007 - - - rs7057211 Germline - 0.00-0.002 - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225-267G>A r.(=) p.(=) Unknown - likely benign g.21863022G>A - MBTPS2(NM_015884.4):c.225-267G>A - MBTPS2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.245T>C r.(?) p.(Phe82Ser) Maternal (confirmed) - likely pathogenic (recessive) g.21863309T>C g.21845191T>C - - MBTPS2_000101 - PubMed: Shin 2022 - - Germline - - - - - DNA SEQ - - IFAP patient PubMed: Shin 2022 2-generation family, 1 affected, unaffected carrier mother M - Korea - - - - - 1 Johan den Dunnen
+/. 2i c.225-6T>A r.224_225ins225-4_225-1 p.Trp75* Maternal (confirmed) - pathogenic g.21863283T>A g.21845165T>A c.225-6A - MBTPS2_000022 not in 225 control chromosomes; splicing studied using minigene construct PubMed: Oeffner 2009, PubMed: Oeffner 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - IFAP1 19361614-Fam6PatII1 PubMed: Oeffner 2009 Fam6PatII1 M - Algeria - - - - - 1 Emmelien Aten
+/. 2i c.225-6T>A r.spl p.? Maternal (confirmed) - pathogenic g.21863283T>A g.21845165T>A c.225-6A - MBTPS2_000022 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - - - - DNA SEQ - - IFAP1 19361614-Fam6PatII4 PubMed: Oeffner 2009 Fam6PatII4 M - Algeria - - - - - 1 Emmelien Aten
+/. 2i c.225-6T>A r.spl p.? Maternal (inferred) - pathogenic g.21863283T>A g.21845165T>A c.225-6A/WT - MBTPS2_000022 not in 225 control chromosomes PubMed: Oeffner 2009 - - Germline - - - - - DNA SEQ - - ? 19361614-Fam6PatI2 PubMed: Oeffner 2009 ion family, 2 affected brothers and carrier mother PatI2 F - Algeria - - - - - 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 - - - - - DNA SEQ - - IFAP1 - PubMed: Ming 2009 maternal second cousin of 19361614.Fam2-I.2, mother of 19361614.Fam2-III.1 / .2 M - Australia European - - - - 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 - - - - - DNA SEQ - - ? 19361614-Fam2PatI2 PubMed: Oeffner 2009 4-generation family, 4 affected carriers (2F, 2M)/3 unaffected carriers (3F), Fam2PatI2 F - Australia European - - - - 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 - - - - - DNA SEQ - - ? 19361614-Fam2PatII2 PubMed: Oeffner 2009 Fam2PatII2 F - Australia European - - - - 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 - - - - - DNA SEQ - - ? 19361614-Fam2PatIII2 PubMed: Oeffner 2009 Fam2PatIII2 F - Australia European - - - - 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 - - - - - DNA SEQ - - ? 19361614-Fam2PatIII9 PubMed: Oeffner 2009 Fam2PatIII9 F - Australia European - - - - 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 - - - - - DNA SEQ - - ? 19361614-Fam2PatIII10 PubMed: Oeffner 2009 Fam2PatIII10 F - Australia European - - - - 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 2013 - - Germline - - - - - DNA arrayCGH, SEQ, SSCA - - IFAP1 23316014-Fam10PatII1 PubMed: Bornholdt 2013 - M ? Sweden - - - - - 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 2013 - - Germline - - - - - DNA arrayCGH, SEQ, SSCA - - IFAP1 23316014-Fam12PatII1 PubMed: Bornholdt 2013 2-generation family, 2 affected males M ? United Kingdom (Great Britain) - - - - - 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 2013 - - Germline - - - - - DNA SEQ - - IFAP1 23316014-Fam12PatII2 PubMed: Bornholdt 2013 affected brother of Fam12PatII1, genotype not analyzed M ? United Kingdom (Great Britain) - - - - - 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 2013 - - Germline - - - - - DNA SEQ - - IFAP1 23316014-Fam12PatI1 PubMed: Bornholdt 2013 mother of Fam12PatII1 and Fam12PatII2, genotype not analyzed F ? United Kingdom (Great Britain) - - - - - 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 - - - - - DNA SEQ - - IFAP1 19361614-Fam2PatII8 PubMed: Oeffner 2009 Fam2PatII8 M - Australia European - - - - 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 - - - - - DNA SEQ - - IFAP1 19361614-Fam2PatIII1 PubMed: Oeffner 2009 Fam2PatIII1 M - Australia European - - - - 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 - - - - - DNA SEQ - - IFAP1 19361614-Fam2PatIV2 PubMed: Oeffner 2009 Fam2PatIV2 M - Australia European - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330C>G r.(?) p.(Pro110=) Unknown - likely benign g.21863394C>G - MBTPS2(NM_015884.3):c.330C>G (p.P110=) - MBTPS2_000078 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 - - - - - - - - - - - - - - - - - - - - -
-?/. - c.338A>C r.(?) p.(Tyr113Ser) Unknown - likely benign g.21863402A>C - MBTPS2(NM_015884.4):c.338A>C (p.(Tyr113Ser)) - MBTPS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 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 - - - - - - - - - - - - - - - - - - - - -
?/. - c.366_383del r.(?) p.(Ser131_Ser136del) Unknown - VUS g.21863430_21863447del g.21845312_21845329del MBTPS2(NM_015884.3):c.366_383del (p.(Ser131_Ser136del)), MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del), MBTPS2(NM_015884.4):c... - 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_383del (p.(Ser131_Ser136del)), MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del), MBTPS2(NM_015884.4):c... - 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_383del (p.(Ser131_Ser136del)), MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del), MBTPS2(NM_015884.4):c... - MBTPS2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366_383del r.(?) p.(Ser131_Ser136del) Unknown - likely benign g.21863430_21863447del - MBTPS2(NM_015884.3):c.366_383del (p.(Ser131_Ser136del)), MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del), MBTPS2(NM_015884.4):c... - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390_392del r.(?) p.(Ser136del) Unknown - likely benign g.21863454_21863456del g.21845336_21845338del MBTPS2(NM_015884.3):c.390_392del (p.(Ser136del)), MBTPS2(NM_015884.3):c.390_392delATC (p.S136del) - MBTPS2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390_392del r.(?) p.(Ser136del) Unknown - likely benign g.21863454_21863456del - MBTPS2(NM_015884.3):c.390_392del (p.(Ser136del)), MBTPS2(NM_015884.3):c.390_392delATC (p.S136del) - MBTPS2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.438+59A>C r.(?) p.(=) Unknown - VUS g.21863561A>C g.21845443A>C - - MBTPS2_000011 - - - rs7063399 Germline - 0.00-0.08 - - - - - - - - - - - - - - - - - - - - -
-?/. - 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(NM_015884.4):c.459C>T (p.P153=) - MBTPS2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.459C>T r.(?) p.(Pro153=) Unknown - benign g.21869647C>T - MBTPS2(NM_015884.3):c.459C>T (p.P153=), MBTPS2(NM_015884.4):c.459C>T (p.P153=) - MBTPS2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.460G>A r.(?) p.(Val154Ile) Unknown - likely benign g.21869648G>A - MBTPS2(NM_015884.3):c.460G>A (p.V154I) - MBTPS2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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(NM_015884.4):c.485C>T (p.T162M) - 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(NM_015884.4):c.485C>T (p.T162M) - 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(NM_015884.4):c.485C>T (p.T162M) - MBTPS2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.516A>C r.(?) p.(Glu172Asp) Maternal (confirmed) - likely pathogenic (recessive) g.21869704A>C g.21851586A>C - - MBTPS2_000094 - PubMed: Lim 2023 - - Germline - - - - - DNA SEQ-NG - gene panel ? fetus PubMed: Lim 2023 4-generation family, 3 carrier females, fetus (terinated pregnancy) M - - - - - - - 1 Johan den Dunnen
?/. - 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 - - - - - 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 - - - - - 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 - - - - - - - - - - - - - - - - - - - - -
+?/. - c.599C>T r.(?) p.(Ala200Val) Unknown - likely pathogenic (recessive) g.21871550C>T g.21853432C>T - - MBTPS2_000088 - PubMed: Zhang 2016, Journal: Zhang 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - KFSD patient PubMed: Zhang 2016, Journal: Zhang 2016 2-generation family, 1 affected, unaffected parents M - China - - - - - 1 Johan den Dunnen
-?/. - c.612G>A r.(?) p.(Leu204=) Unknown - likely benign g.21871563G>A - MBTPS2(NM_015884.3):c.612G>A (p.L204=) - MBTPS2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.638C>G r.(?) p.(Ser213Trp) Unknown - likely pathogenic g.21871589C>G - - - MBTPS2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.638C>G r.(?) p.(Ser213Trp) Unknown - likely pathogenic (dominant) g.21871589C>G g.21853471C>G - - MBTPS2_000086 - PubMed: Cuperus 2025, Journal: Cuperus 2025 - - De novo - - - - - DNA SEQ-NG - WES KFSD patient PubMed: Cuperus 2025, Journal: Cuperus 2025 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.638C>T r.(?) p.(Ser213Leu) Maternal (confirmed) - pathogenic (recessive) g.21871589C>T g.21853471C>T C638T - MBTPS2_000087 - PubMed: Chen 2019, Journal: Chen 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES KFSD FamPatIV5 PubMed: Chen 2019, Journal: Chen 2019 4-generation family, 10 affected, 6 female carriers M - China - - - - - 10 Johan den Dunnen
-?/. - 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 - - - - - 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 - - - - - 1 Yu Sun
?/. - c.670+2842del r.(=) p.(=) Unknown - VUS g.21874463del - MBTPS2(NM_015884.4):c.670+2842del - MBTPS2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670+3004C>G r.(=) p.(=) Unknown - likely benign g.21874625C>G - YY2(NM_206923.3):c.23C>G (p.(Ser8Cys)) - MBTPS2_000084 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+3313T>C r.(=) p.(=) Unknown - VUS g.21874934T>C - YY2(NM_206923.3):c.332T>C (p.(Ile111Thr)) - MBTPS2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670+3888C>G r.(=) p.(=) Unknown - VUS g.21875509C>G g.21857391C>G YY2(NM_206923.3):c.907C>G (p.(Leu303Val)) - MBTPS2_000067 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - DNA, RNA PCR, RT-PCR, SEQ - - IFAP1 21426410-Pat2 PubMed: Oeffner 2011 - M - - white - - - - 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 - - - - - DNA, RNA RT-PCR, SEQ - - IFAP1 21426410-Pat3 PubMed: Oeffner 2011 - M - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 5i c.671-9T>G r.(671_789del) p.(Ile225Leufs*25) Maternal (confirmed) - pathogenic (recessive) g.21886576T>G g.21868458T>G - - MBTPS2_000028 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ-NG - WES IFAP patient PubMed: Wang 2013 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - 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 - - DNA SEQ - - IFAP1 19361614-Fam4PatI1 PubMed: Oeffner 2009 mildly affected mother (dry skin, bald patches scalp) M - Spain European - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - DNA SEQ - - ? 19361614-Fam1PatI2 PubMed: Oeffner 2009 3-generation family, 5 affected carriers (3F, 2M), Fam1PatI2 F - Germany European - - - - 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 - - - - - DNA SEQ - - ? 19361614-Fam1PatII2 PubMed: Oeffner 2009 Fam1PatII2 F - Germany European - - - - 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 - - - - - DNA SEQ - - ? 19361614-Fam1PatIII2 PubMed: Oeffner 2009 Fam1PatIII2 F - Germany European - - - - 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 - - - - - DNA SEQ - - IFAP1 19361614-Fam1PatII5 PubMed: Oeffner 2009 Fam1PatII5 M - Germany European - - - - 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 - - - - - DNA SEQ - - IFAP1 19361614-Fam1PatIII1 PubMed: Oeffner 2009 Fam1PatIII1 M - Germany European - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 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) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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 2013 - - Germline - - - - - DNA PCR, SEQ - - IFAP1 23316014-Fam7PatII1 PubMed: Bornholdt 2013 - M no France - - - - - 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 2013 - - Germline - - - - - DNA PCR, SEQ - - IFAP1 23316014-Fam7PatI1 PubMed: Bornholdt 2013 - F ? France - - - - - 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 2013 - - Germline - - - - - DNA PCR, SEQ - - IFAP1 23316014-Fam7PatI3 PubMed: Bornholdt 2013 sister of Fam7PatI1 F ? France - - - - - 1 Karl-Heinz Grzeschik
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