Unique variants in the IGHMBP2 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_002180.2 transcript reference sequence.

179 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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 7i_15_ c.(1060+1_1061-1)_(*1_?)del r.? p.? - likely pathogenic g.(?_68696651)_(68707199_?)del - chr11:68696651-?_68707199+?del - IGHMBP2_000228 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1418+1_1419-1)_(2784+1_2785-1)dup r.(?) p.(?) - likely pathogenic g.68675700C>T g.68908232C>T IGHMBP2 (NM_002180.2): c.344C>T(p.T115M)/CDS10-14 duplication - IGHMBP2_000219 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 169 - - - LOVD
-/. 2 1 c.-136_-135insCGCCATCTTCCCGC r.(?) p.(=) - benign g.68671285_68671286insCGCCATCTTCCCGC g.68903817_68903818insCGCCATCTTCCCGC - - IGHMBP2_000006 - PubMed: Grohmann, 2001 - - Germline - - - - - Jorge Oliveira
-/. 1 - c.-131_-130insTTCCCGCGCCTC r.(?) p.(=) - benign g.68671290_68671291insTTCCCGCGCCTC g.68903822_68903823insTTCCCGCGCCTC MRPL21(NM_181515.2):c.-276_-275insGCGGGAAGAGGC - IGHMBP2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 1 c.-68T>C r.(=) p.(=) - benign g.68671353T>C g.68903885T>C - - IGHMBP2_000085 - - - rs57258566 Germline - - - - - Andreas Laner
-/. 4 1, 4 c.-2C>T r.(=), r.(?) p.(=) - benign g.68671419C>T g.68903951C>T IGHMBP2(NM_002180.2):c.-2C>T - IGHMBP2_000050 VKGL data sharing initiative Nederland - - rs493062, rs4930624 CLASSIFICATION record, Germline - - - - - Jorge Oliveira, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_AMC
+/., ?/. 5 1_15 c.? r.(?) p.(Arg?Cys), p.? - pathogenic (recessive), VUS g.? - 61C>T (Arg21Cys) - IGHMBP2_000000 unknown variant 2nd allele PubMed: Mahler 2019 - - Germline - - - - - Johan den Dunnen, Jorge Oliveira
+/. 1 2 c.?delC r.(?) p.(?) - pathogenic (recessive) g.? - 129delC - IGHMBP2_000082 - PubMed: Giannini, 2006 - - Germline - - - - - Jorge Oliveira
+?/. 2 - c.2T>C r.(?) p.0? - likely pathogenic (recessive) g.68671422T>C g.68903954T>C p.(Met1?) - IGHMBP2_000211 AR, biparental inheritance PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.50T>C r.(?) p.(Leu17Pro) - pathogenic, pathogenic (recessive) g.68671470T>C g.68904002T>C IGHMBP2(NM_002180.2):c.50T>C (p.L17P) - IGHMBP2_000067, IGHMBP2_000093 not in 105 controls, VKGL data sharing initiative Nederland PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
-/. 5 1 c.57T>C r.(=), r.(?) p.(=), p.(Leu19=) - benign g.68671477T>C g.68904009T>C IGHMBP2(NM_002180.2):c.57T>C (p.L19=) - IGHMBP2_000051 VKGL data sharing initiative Nederland - - rs1249463 CLASSIFICATION record, Germline - - - - - Jorge Oliveira, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.103A>G r.(?) p.(Ile35Val) - likely benign g.68673553A>G g.68906085A>G IGHMBP2(NM_002180.2):c.103A>G (p.(Ile35Val)) - IGHMBP2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 2 c.114del r.(?) p.(Glu39Serfs*10) - pathogenic g.68673564del g.68906096del - - IGHMBP2_000013 - PubMed: Grohmann, 2003 - - Germline - - - - - Jorge Oliveira
+/. 2 2 c.121C>T r.(?) p.(Gln41*), p.(Gln41Ter) - pathogenic, pathogenic (recessive) g.68673571C>T g.68906103C>T IGHMBP2(NM_002180.2):c.121C>T (p.Q41*) - IGHMBP2_000001, IGHMBP2_000094 VKGL data sharing initiative Nederland PubMed: Grohmann, 2001; PubMed: Grohmann, 2003; PubMed: Diers, 2005 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/. 1 2 c.121del r.(?) p.(Gln41Argfs*8) - pathogenic g.68673571del g.68906103del - - IGHMBP2_000030 - PubMed: Grohmann, 2003 - - Germline - - - - - Jorge Oliveira
+/. 3 2 c.127C>T r.(?) p.(Arg43*), p.(Arg43Ter) ACMG pathogenic g.68673577C>T g.68906109C>T Arg 43 Stop, base 127 cga to tga, IGHMBP2(NM_002180.2):c.127C>T (p.R43*) - IGHMBP2_000042 VKGL data sharing initiative Nederland PubMed: Pitt, 2003, PubMed: Trujillano 2017 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, Daniel Trujillano, VKGL-NL_AMC
+/. 5 2 c.138T>A r.(?) p.(Cys46*), p.(Cys46Ter), p.Cys46* ACMG pathogenic g.68673588T>A g.68906120T>A IGHMBP2(NM_002180.2):c.138T>A (p.C46*) - IGHMBP2_000026 ACMG grading: PVS1,PP5,PM2; no second variant in IGHMBP2 detected, 1 more item PubMed: Grohmann, 2003 - rs372000714 CLASSIFICATION record, Germline - - - - - Jorge Oliveira, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_AMC
-/., -?/. 3 2 c.151C>G r.(?) p.(Gln51Glu) - benign, likely benign g.68673601C>G g.68906133C>G IGHMBP2(NM_002180.2):c.151C>G (p.Q51E) - IGHMBP2_000089 VKGL data sharing initiative Nederland, 1 more item - - rs117061430 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 2 2 c.163C>T r.(?) p.(Gln55*), p.(Gln55Ter) - pathogenic, pathogenic (recessive) g.68673613C>T g.68906145C>T IGHMBP2(NM_002180.2):c.163C>T (p.Q55*) - IGHMBP2_000077, IGHMBP2_000095 VKGL data sharing initiative Nederland PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
?/. 1 - c.167G>A r.(?) p.(Arg56His) - VUS g.68673617G>A g.68906149G>A IGHMBP2(NM_002180.2):c.167G>A (p.R56H) - IGHMBP2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 2 c.180C>T r.(?) p.(=), p.(Tyr60=) - benign g.68673630C>T g.68906162C>T IGHMBP2(NM_002180.2):c.180C>T (p.Y60=) - IGHMBP2_000009, IGHMBP2_000096 VKGL data sharing initiative Nederland PubMed: Grohmann, 2001 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
?/. 3 - c.181G>C r.(?) p.(Gly61Arg) - VUS g.68673631G>C g.68906163G>C IGHMBP2(NM_002180.2):c.181G>C (p.(Gly61Arg), p.G61R) - IGHMBP2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 2 c.240T>A r.(?) p.(Ser80Arg) - VUS g.68673690T>A g.68906222T>A - - IGHMBP2_000088 - - - - Germline - - - - - Andreas Laner
+/. 1 2i_7i c.(246+1_247-1)_(1060+1_1061-1)del r.247_1060del p.Phe83Valfs*8 - pathogenic (recessive) g.? - - - IGHMBP2_000066 deletion of exons 3-7 (18.5 kb) PubMed: Guenther, 2004 - - Germline - - - - - Jorge Oliveira
-/. 2 - c.256+9G>A r.(=) p.(=) - benign g.68673715G>A g.68906247G>A IGHMBP2(NM_002180.2):c.256+9G>A - IGHMBP2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 2i c.257-101G>C r.(?) p.(=) - benign g.68675512G>C g.68908044G>C - - IGHMBP2_000052 - - - rs61887150 Germline - - - - - Jorge Oliveira
-?/. 1 - c.257-10G>C r.(=) p.(=) - likely benign g.68675603G>C - IGHMBP2(NM_002180.2):c.257-10G>C - IGHMBP2_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.277G>A r.(?) p.Asp93Asn ACMG VUS g.68675633G>A g.68908165G>A - - IGHMBP2_000168 - - - rs200897747 Germline - - - - - Andreas Laner
?/. 1 - c.304G>T r.(?) p.(Ala102Ser) - VUS g.68675660G>T - IGHMBP2(NM_002180.2):c.304G>T (p.A102S) - IGHMBP2_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., -?/. 3 - c.344C>T r.(?) p.(Thr115Met) - likely benign, likely pathogenic g.31815344dup, g.68675700C>T g.31793796dup, g.68908232C>T IGHMBP2 (NM_002180.2): c.344C>T(p.T115M)/CDS10-14 duplication - IGHMBP2_000219 classification based on frequency in 305 unrelated individuals PubMed: Le 2019, PubMed: Sun 2018 - - Germline, Germline/De novo (untested), Unknown ? 169, frequency 0.020 - - - Global Variome, with Curator vacancy, Sha Hong
-/. 1 - c.366C>T r.(?) p.(His122=) - benign g.68675722C>T g.68908254C>T IGHMBP2(NM_002180.2):c.366C>T (p.H122=) - IGHMBP2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 6 3 c.388C>T r.(?) p.(Arg130*), p.(Arg130Ter) - pathogenic, pathogenic (recessive) g.68675744C>T g.68908276C>T IGHMBP2(NM_002180.2):c.388C>T (p.R130*) - IGHMBP2_000017, IGHMBP2_000098 VKGL data sharing initiative Nederland PubMed: Giannini, 2006, PubMed: Grohmann, 2003, PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/. 4 3 c.439C>T r.(?) p.(Arg147*), p.(Arg147Ter) - pathogenic g.68675795C>T g.68908327C>T IGHMBP2(NM_002180.2):c.439C>T (p.R147*) - IGHMBP2_000028, IGHMBP2_000099 VKGL data sharing initiative Nederland PubMed: Dohrn 2017, Journal: Dohrn 2017, PubMed: Grohmann, 2003 - - CLASSIFICATION record, Germline - 1/612 cases - - - Johan den Dunnen, Jorge Oliveira, VKGL-NL_AMC
?/. 1 - c.440G>A r.(?) p.(Arg147Gln) - VUS g.68675796G>A g.68908328G>A IGHMBP2(NM_002180.2):c.440G>A (p.R147Q) - IGHMBP2_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.449+1G>C r.spl? p.? - VUS g.68675806G>C g.68908338G>C IGHMBP2(NM_002180.2):c.449+1G>C - IGHMBP2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 3i c.450-72G>T r.(?) p.(=) - benign g.68675930G>T g.68908462G>T - - IGHMBP2_000053 - - - rs10896378 Germline - - - - - Jorge Oliveira
+/., +?/. 2 - c.547+1G>A r.spl, r.spl? p.? ACMG likely pathogenic g.68676100G>A g.68908632G>A IGHMBP2(NM_002180.2):c.547+1G>A - IGHMBP2_000169 ACMG pvs1, pm2, VKGL data sharing initiative Nederland PubMed: Dohrn 2017, Journal: Dohrn 2017 - - CLASSIFICATION record, Germline yes 1/612 cases - - - Johan den Dunnen, VKGL-NL_AMC
-?/. 1 - c.548-20C>T r.(=) p.(=) - likely benign g.68678888C>T - IGHMBP2(NM_002180.2):c.548-20C>T - IGHMBP2_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 5 c.575T>C r.(?) p.(Leu192Pro) - pathogenic g.68678935T>C g.68911467T>C IGHMBP2(NM_002180.2):c.575T>C (p.L192P) - IGHMBP2_000015, IGHMBP2_000100 not in 60 controls, VKGL data sharing initiative Nederland PubMed: Grohmann, 2003; PubMed: Diers, 2005 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/. 3 5 c.587A>G r.(?) p.(Gln196Arg) - pathogenic g.68678947A>G g.68911479A>G IGHMBP2(NM_002180.2):c.587A>G (p.Q196R) - IGHMBP2_000046, IGHMBP2_000110 Not in 50 controls, VKGL data sharing initiative Nederland PubMed: Maystadt, 2004 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 5 5 c.602T>C r.(?) p.(Leu201Ser) - benign g.68678962T>C g.68911494T>C IGHMBP2(NM_002180.2):c.602T>C (p.L201S) - IGHMBP2_000054 VKGL data sharing initiative Nederland - - rs560096 CLASSIFICATION record, Germline - - - - - Jorge Oliveira, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 2 5 c.616C>T r.(?) p.(Gln206*), p.(Gln206Ter) - pathogenic, pathogenic (recessive) g.68678976C>T g.68911508C>T IGHMBP2(NM_002180.2):c.616C>T (p.Q206*) - IGHMBP2_000075, IGHMBP2_000111 VKGL data sharing initiative Nederland PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/., ?/. 3 5 c.638A>G r.(?) p.(His213Arg) - pathogenic (recessive), VUS g.68678998A>G g.68911530A>G IGHMBP2(NM_002180.2):c.638A>G (p.H213R) - IGHMBP2_000008, IGHMBP2_000112 not in 50 controls, VKGL data sharing initiative Nederland PubMed: Grohmann, 2001; PubMed: Grohmann, 2003 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/. 2 5 c.647C>T r.(?) p.(Pro216Leu) - pathogenic, pathogenic (recessive) g.68679007C>T g.68911539C>T IGHMBP2(NM_002180.2):c.647C>T (p.P216L) - IGHMBP2_000044, IGHMBP2_000113 Not in 50 controls, VKGL data sharing initiative Nederland PubMed: Maystadt, 2004 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/. 2 5 c.661A>G r.(?) p.(Thr221Ala) - pathogenic g.68679021A>G g.68911553A>G IGHMBP2(NM_002180.2):c.661A>G (p.T221A) - IGHMBP2_000037, IGHMBP2_000114 not in 60 controls, VKGL data sharing initiative Nederland PubMed: Grohmann, 2003 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/., +?/. 3 5 c.661del r.(?) p.(Thr221Profs*12) - likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.68679021del g.68911553del c.661delA, Del A base 661 - IGHMBP2_000039 - PubMed: Antoniadi 2015, PubMed: Guenther, 2007, PubMed: Pitt, 2003 - - Germline - - - - - Johan den Dunnen, Jorge Oliveira
+/. 1 5 c.675del r.(?) p.(Glu226Argfs*7) - pathogenic (recessive) g.68679035del g.68911567del - - IGHMBP2_000002 - PubMed: Grohmann, 2001; PubMed: Grohmann, 2003; PubMed: Diers, 2005 - - Germline - - - - - Jorge Oliveira
+/. 5 5 c.707T>G r.(?) p.(Leu236*), p.(Leu236Ter) - pathogenic, pathogenic (recessive) g.68679067T>G g.68911599T>G IGHMBP2(NM_002180.2):c.707T>G (p.L236*) - IGHMBP2_000011, IGHMBP2_000115 VKGL data sharing initiative Nederland PubMed: Grohmann, 2001; PubMed: Grohmann, 2003, PubMed: Grohmann, 2003 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+?/. 1 - c.709A>G r.(?) p.(Lys237Glu) - likely pathogenic (recessive) g.68679069A>G g.68911601A>G - - IGHMBP2_000212 AR, biparental inheritance PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
+/. 2 6 c.721T>C r.(?) p.(Cys241Arg) - pathogenic g.68682300T>C g.68914832T>C IGHMBP2(NM_002180.2):c.721T>C (p.C241R) - IGHMBP2_000029, IGHMBP2_000116 not in 60 controls, VKGL data sharing initiative Nederland PubMed: Grohmann, 2003 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
-/. 1 - c.726C>G r.(?) p.(Ala242=) - benign g.68682305C>G g.68914837C>G IGHMBP2(NM_002180.2):c.726C>G (p.A242=) - IGHMBP2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.741C>T r.(?) p.(Ala247=) - benign g.68682320C>T g.68914852C>T IGHMBP2(NM_002180.2):c.741C>T (p.A247=) - IGHMBP2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.745G>A r.(?) p.(Asp249Asn) - pathogenic (recessive) g.68682324G>A - - - IGHMBP2_000222 - PubMed: Mahler 2019 - - Germline - - - - - Johan den Dunnen
+/. 2 6 c.752T>C r.(?) p.(Leu251Pro) - pathogenic, pathogenic (recessive) g.68682331T>C g.68914863T>C IGHMBP2(NM_002180.2):c.752T>C (p.L251P) - IGHMBP2_000048, IGHMBP2_000118 Not in 50 controls, VKGL data sharing initiative Nederland PubMed: Maystadt, 2004 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
?/. 1 - c.767C>G r.(?) p.(Ala256Gly) - VUS g.68682346C>G g.68914878C>G - - IGHMBP2_000208 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148095551 Germline - 5/2791 individuals - - - Mohammed Faruq
+?/. 1 - c.791G>A r.(?) p.(Arg264His) ACMG likely pathogenic g.68682370G>A g.68914902G>A - - IGHMBP2_000171 ACMG pm1, pm2, pm5 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - Johan den Dunnen
+?/. 4 - c.791G>T r.(?) p.(Arg264Leu) - likely pathogenic (recessive) g.68682370G>T g.68914902G>T - - IGHMBP2_000213 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
-/. 4 6 c.823A>G r.(?) p.(Ile275Val) - benign g.68682402A>G g.68914934A>G IGHMBP2(NM_002180.2):c.823A>G (p.I275V) - IGHMBP2_000055 VKGL data sharing initiative Nederland - - rs10896380, rs493062 CLASSIFICATION record, Germline - - - - - Jorge Oliveira, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_AMC
+?/. 1 - c.848T>C r.(?) p.(Val283Ala) - likely pathogenic (recessive) g.68682427T>C g.68914959T>C - - IGHMBP2_000214 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 6 c.904C>T r.(?) p.(Gln302*), p.(Gln302Ter) - likely pathogenic, pathogenic, pathogenic (recessive) g.68682483C>T g.68915015C>T IGHMBP2(NM_002180.2):c.904C>T (p.Q302*) - IGHMBP2_000079, IGHMBP2_000119 VKGL data sharing initiative Nederland PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.951T>C r.(?) p.(Ser317=) - likely benign g.68685242T>C g.68917774T>C IGHMBP2(NM_002180.2):c.951T>C (p.=) - IGHMBP2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 7 7 c.958C>T r.(?) p.(Arg320*), p.(Arg320Ter) ACMG pathogenic, pathogenic (recessive) g.68685249C>T g.68917781C>T Arg 320 Stop, base 958 cga to tga, IGHMBP2(NM_002180.2):c.958C>T (p.R320*) - IGHMBP2_000043 VKGL data sharing initiative Nederland PubMed: AlSaman, 2010, PubMed: Ganapathy 2019, PubMed: Pitt, 2003, PubMed: Trujillano 2017 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Jorge Oliveira, Daniel Trujillano, VKGL-NL_AMC
+/. 1 7 c.983_984del r.(?) p.(Lys328Argfs*47) - pathogenic g.68685274_68685275del g.68917806_68917807del Del AA base 983/984 - IGHMBP2_000040 - PubMed: Pitt, 2003 - - Germline - - - - - Jorge Oliveira
+/. 3 7 c.983_987del r.(?) p.(Lys328Thrfs*46) - pathogenic, pathogenic (recessive) g.68685274_68685278del g.68917806_68917810del 983delAAGAA - IGHMBP2_000014 - PubMed: Grohmann, 2003, PubMed: Grohmann, 2003; PubMed: Guenther, 2004 - - Germline - - - - - Jorge Oliveira
+/. 3 7 c.1000G>A r.(?) p.(Glu334Lys) - pathogenic g.68685291G>A g.68917823G>A IGHMBP2(NM_002180.2):c.1000G>A (p.E334K) - IGHMBP2_000031, IGHMBP2_000120 not in 60 controls, VKGL data sharing initiative Nederland PubMed: Grohmann, 2003 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/. 1 7 c.1011del r.(?) p.(Met338Cysfs*24) - pathogenic g.68685302del g.68917834del - - IGHMBP2_000086 - - - - Germline - - - - - Andreas Laner
+/. 2 7 c.1060G>A r.(?) p.(Gly354Ser) - pathogenic, pathogenic (recessive) g.68685351G>A g.68917883G>A 1061G>A, IGHMBP2(NM_002180.2):c.1060G>A (p.G354S) - IGHMBP2_000081, IGHMBP2_000121 might affect donor splice site (bioinformatic prediction), VKGL data sharing initiative Nederland PubMed: Giannini, 2006 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/. 2 7i c.1060+1G>T r.spl, r.spl? p.? - pathogenic, pathogenic (recessive) g.68685352G>T g.68917884G>T IGHMBP2(NM_002180.2):c.1060+1G>T - IGHMBP2_000072, IGHMBP2_000122 VKGL data sharing initiative Nederland PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
-?/. 1 - c.1060+8G>T r.(=) p.(=) - likely benign g.68685359G>T g.68917891G>T IGHMBP2(NM_002180.2):c.1060+8G>T - IGHMBP2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 11 8 c.1082T>C r.(?) p.(Leu361Pro) - pathogenic, pathogenic (recessive) g.68696672T>C g.68929204T>C IGHMBP2(NM_002180.2):c.1082T>C (p.L361P), Leu 361 Pro, base 1082 ctg ccg - IGHMBP2_000022 not in 105 controls, not in 60 controls, VKGL data sharing initiative Nederland PubMed: Antoniadi 2015, PubMed: Grohmann, 2003, PubMed: Guenther, 2007, PubMed: Guenther, 2009, 2 more items - rs201060167 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Jorge Oliveira, Andreas Laner, VKGL-NL_AMC
+/. 2 8 c.1091T>C r.(?) p.(Leu364Pro) - pathogenic g.68696681T>C g.68929213T>C IGHMBP2(NM_002180.2):c.1091T>C (p.L364P) - IGHMBP2_000032, IGHMBP2_000123 not in 60 controls, VKGL data sharing initiative Nederland PubMed: Grohmann, 2003 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+?/. 1 - c.1096G>T r.(?) p.(Glu366Ter) - likely pathogenic g.68696686G>T g.68929218G>T IGHMBP2(NM_002180.2):c.1096G>T (p.(Glu366Ter)) - IGHMBP2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1103del r.(?) p.(Tyr368SerfsTer23) - pathogenic g.68696693del g.68929225del IGHMBP2(NM_002180.2):c.1103delA (p.Y368Sfs*23) - IGHMBP2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1104C>T r.(?) p.(Tyr368=) - benign g.68696694C>T g.68929226C>T IGHMBP2(NM_002180.2):c.1104C>T (p.Y368=) - IGHMBP2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 8 c.1107C>G r.(?), r.1107c>g p.(Phe369Leu), p.Phe369Leu - pathogenic, pathogenic (recessive) g.68696697C>G g.68929229C>G IGHMBP2(NM_002180.2):c.1107C>G (p.F369L) - IGHMBP2_000065, IGHMBP2_000126 not in 100 controls, VKGL data sharing initiative Nederland PubMed: Guenther, 2004 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
?/. 1 - c.1120A>G r.(?) p.(Ile374Val) - VUS g.68696710A>G g.68929242A>G IGHMBP2(NM_002180.2):c.1120A>G (p.I374V) - IGHMBP2_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1143C>T r.(?) p.(Leu381=) - likely benign g.68696733C>T g.68929265C>T IGHMBP2(NM_002180.2):c.1143C>T (p.L381=) - IGHMBP2_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 3 8 c.1144G>A r.(?) p.(Glu382Lys) - pathogenic, pathogenic (recessive) g.68696734G>A g.68929266G>A IGHMBP2(NM_002180.2):c.1144G>A (p.E382K) - IGHMBP2_000018, IGHMBP2_000127 not in 60 controls, VKGL data sharing initiative Nederland PubMed: Grohmann, 2003, PubMed: Pierson, 2011 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
+/. 5 8 c.1156T>C r.(?) p.(Trp386Arg) - pathogenic, pathogenic (recessive) g.68696746T>C g.68929278T>C IGHMBP2(NM_002180.2):c.1156T>C (p.W386R) - IGHMBP2_000069, IGHMBP2_000128 not in 105 controls, VKGL data sharing initiative Nederland PubMed: Antoniadi 2015, PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Jorge Oliveira, VKGL-NL_AMC
+?/., ?/. 4 - c.1193C>T r.(?) p.(Ala398Val) - likely pathogenic (recessive), VUS g.68696783C>T g.68929315C>T IGHMBP2(NM_002180.2):c.1193C>T (p.A398V) - IGHMBP2_000129 conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Antoniadi 2015, PubMed: Narang 2020, Journal: Narang 2020 - rs35193202 CLASSIFICATION record, Germline - 8/2795 individuals - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_AMC, Mohammed Faruq
?/. 1 8 c.1198G>A r.(?) p.(Asp400Asn) - VUS g.68696788G>A g.68929320G>A - - IGHMBP2_000229 - PubMed: Ganapathy 2019 ClinVar-RCV000642636.1 rs779654686 Germline - - - - - Johan den Dunnen
+/. 1 8 c.1218del r.(?) p.(Thr407Profs*16) - pathogenic (recessive) g.68696808del g.68929340del - - IGHMBP2_000073 - PubMed: Guenther, 2007 - - Germline - - - - - Jorge Oliveira
+/. 2 8i c.1235+3A>G r.spl?, r.[=, 1061_1235del] p.?, p.Ala355Leufs*10 - pathogenic, pathogenic (recessive) g.68696828A>G g.68929360A>G IGHMBP2(NM_002180.2):c.1235+3A>G - IGHMBP2_000070, IGHMBP2_000130 VKGL data sharing initiative Nederland PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
-/. 1 8i c.1236-66G>C r.(?) p.(=) - benign g.68700701G>C g.68933233G>C - - IGHMBP2_000056 - - - rs645436 Germline - - - - - Jorge Oliveira
-/. 1 8i c.1236-33C>A r.(=) p.(=) - benign g.68700734C>A g.68933266C>A - - IGHMBP2_000090 - - - rs73527332 Germline - - - - - Andreas Laner
-?/. 1 - c.1236-10C>T r.(=) p.(=) - likely benign g.68700757C>T g.68933289C>T IGHMBP2(NM_002180.2):c.1236-10C>T - IGHMBP2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1261A>C r.(?) p.(Ser421Arg) - VUS g.68700792A>C - IGHMBP2(NM_002180.2):c.1261A>C (p.S421R) - IGHMBP2_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 9 c.1277T>C r.(?) p.(Leu426Pro) - pathogenic g.68700808T>C g.68933340T>C IGHMBP2(NM_002180.2):c.1277T>C (p.L426P) - IGHMBP2_000016, IGHMBP2_000132 not in 60 controls, VKGL data sharing initiative Nederland PubMed: Grohmann, 2003; PubMed: Diers, 2005 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
-?/. 2 - c.1290C>T r.(?) p.(Tyr430=) - likely benign g.68700821C>T g.68933353C>T IGHMBP2(NM_002180.2):c.1290C>T (p.Y430=) - IGHMBP2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.1293C>T r.(?) p.(Gly431=) - VUS g.68700824C>T g.68933356C>T IGHMBP2(NM_002180.2):c.1293C>T (p.G431=) - IGHMBP2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1295C>T r.(?) p.(Ala432Val) - likely benign g.68700826C>T g.68933358C>T IGHMBP2(NM_002180.2):c.1295C>T (p.A432V) - IGHMBP2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 9 c.1327C>T r.(?) p.(Arg443Cys) - pathogenic (recessive) g.68700858C>T g.68933390C>T - - IGHMBP2_000057 - - - - Germline - - - - - Jorge Oliveira
+?/. 1 - c.1328G>A r.(?) p.(Arg443His) - likely pathogenic g.68700859G>A g.68933391G>A - - IGHMBP2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 9 c.1334A>C r.(?), r.1334a>c p.(His445Pro), p.His445Pro - pathogenic, pathogenic (recessive) g.68700865A>C g.68933397A>C IGHMBP2(NM_002180.2):c.1334A>C (p.H445P) - IGHMBP2_000071, IGHMBP2_000134 not in 105 controls, VKGL data sharing initiative Nederland PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
?/. 1 - c.1348C>T r.(?) p.(Arg450Cys) - VUS g.68700879C>T g.68933411C>T IGHMBP2(NM_002180.2):c.1348C>T (p.R450C) - IGHMBP2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 9 c.1415T>C r.(?) p.(Leu472Pro) - pathogenic, pathogenic (recessive) g.68700946T>C g.68933478T>C IGHMBP2(NM_002180.2):c.1415T>C (p.L472P) - IGHMBP2_000068, IGHMBP2_000136 not in 105 controls, VKGL data sharing initiative Nederland PubMed: Guenther, 2007 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_AMC
-/. 3 - c.1418+18A>G r.(=) p.(=) - benign g.68700967A>G g.68933499A>G IGHMBP2(NM_002180.2):c.1418+18A>G - IGHMBP2_000137 168 heterozygous; Clinindb (India), 8 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs112575423 CLASSIFICATION record, Germline - 168/2793 individuals, 8/2793 individuals - - - VKGL-NL_AMC, Mohammed Faruq
-/. 1 9i c.1419-145C>T r.(?) p.(=) - benign g.68701118C>T g.68933650C>T - - IGHMBP2_000058 - - - rs2282504 Germline - - - - - Jorge Oliveira
+?/. 1 - c.1451C>T r.(?) p.(Thr484Met) - likely pathogenic (recessive) g.68701295C>T g.68933827C>T - - IGHMBP2_000215 AR, biparental inheritance PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
+/. 2 10 c.1463del r.(?) p.(Leu488Argfs*88) - pathogenic g.68701307del g.68933839del Del T base 1463 - IGHMBP2_000041 - PubMed: Pitt, 2003 - - Germline - - - - - Jorge Oliveira
Legend   How to query   « First ‹ Prev     1 2     Next › Last »