All 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.

422 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 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 - - - 0 - Johan den Dunnen
+?/. - 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 - 0 - LOVD
-/. 1 c.-136_-135insCGCCATCTTCCCGC r.(?) p.(=) - benign g.68671285_68671286insCGCCATCTTCCCGC g.68903817_68903818insCGCCATCTTCCCGC - - IGHMBP2_000006 - PubMed: Grohmann, 2001 - - Germline - - - 0 - Jorge Oliveira
-/. 1 c.-136_-135insCGCCATCTTCCCGC r.(?) p.(=) - benign g.68671285_68671286insCGCCATCTTCCCGC g.68903817_68903818insCGCCATCTTCCCGC - - IGHMBP2_000006 - PubMed: Grohmann, 2001 - - Germline - - - 0 - Jorge Oliveira
-/. - 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 c.-68T>C r.(=) p.(=) - benign g.68671353T>C g.68903885T>C - - IGHMBP2_000085 - - - rs57258566 Germline - - - 0 - Andreas Laner
-/. 4 c.-2C>T r.(=) p.(=) - benign g.68671419C>T g.68903951C>T - - IGHMBP2_000050 - - - rs4930624 Germline - - - 0 - Andreas Laner
-/. - c.-2C>T r.(?) p.(=) - benign g.68671419C>T g.68903951C>T IGHMBP2(NM_002180.2):c.-2C>T - IGHMBP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-2C>T r.(?) p.(=) - benign g.68671419C>T g.68903951C>T IGHMBP2(NM_002180.2):c.-2C>T - IGHMBP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. 1 c.-2C>T r.(?) p.(=) - benign g.68671419C>T g.68903951C>T - - IGHMBP2_000050 - - - rs493062 Germline - - - 0 - Jorge Oliveira
?/. 1_15 c.? r.(?) p.? - VUS g.? - - - IGHMBP2_000000 unknown variant 2nd allele - - - Germline - - - 0 - Jorge Oliveira
?/. 1_15 c.? r.(?) p.? - VUS g.? - - - IGHMBP2_000000 unknown variant 2nd allele - - - Germline - - - 0 - Jorge Oliveira
?/. 1_15 c.? r.(?) p.? - VUS g.? - - - IGHMBP2_000000 unknown variant 2nd allele - - - Germline - - - 0 - Jorge Oliveira
?/. 1_15 c.? r.(?) p.? - VUS g.? - - - IGHMBP2_000000 unknown variant 2nd allele - - - Germline - - - 0 - Jorge Oliveira
+/. - c.? r.(?) p.(Arg?Cys) - pathogenic (recessive) g.? - 61C>T (Arg21Cys) - IGHMBP2_000000 - PubMed: Mahler 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.?delC r.(?) p.(?) - pathogenic (recessive) g.? - 129delC - IGHMBP2_000082 - PubMed: Giannini, 2006 - - Germline - - - 0 - Jorge Oliveira
+?/. - 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 - - - 0 - Johan den Dunnen
+?/. - c.2T>C r.(?) p.0? - likely pathogenic (recessive) g.68671422T>C g.68903954T>C p.(Met1?) - IGHMBP2_000211 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.50T>C r.(?) p.(Leu17Pro) - pathogenic g.68671470T>C g.68904002T>C IGHMBP2(NM_002180.2):c.50T>C (p.L17P) - IGHMBP2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.50T>C r.(?) p.(Leu17Pro) - pathogenic (recessive) g.68671470T>C g.68904002T>C - - IGHMBP2_000067 not in 105 controls PubMed: Guenther, 2007 - - Germline - - - 0 - Jorge Oliveira
-/. 1 c.57T>C r.(=) p.(=) - benign g.68671477T>C g.68904009T>C - - IGHMBP2_000051 - - - rs1249463 Germline - - - 0 - Andreas Laner
-/. - c.57T>C r.(?) 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.57T>C r.(?) 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.57T>C r.(?) 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.57T>C r.(?) p.(=) - benign g.68671477T>C g.68904009T>C - - IGHMBP2_000051 - - - rs1249463 Germline - - - 0 - Jorge Oliveira
-?/. - 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 c.114del r.(?) p.(Glu39Serfs*10) - pathogenic g.68673564del g.68906096del - - IGHMBP2_000013 - PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 2 c.114del r.(?) p.(Glu39Serfs*10) - pathogenic g.68673564del g.68906096del - - IGHMBP2_000013 - PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. - c.121C>T r.(?) p.(Gln41Ter) - pathogenic g.68673571C>T g.68906103C>T IGHMBP2(NM_002180.2):c.121C>T (p.Q41*) - IGHMBP2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 2 c.121C>T r.(?) p.(Gln41*) - pathogenic (recessive) g.68673571C>T g.68906103C>T - - IGHMBP2_000001 - PubMed: Grohmann, 2001; PubMed: Grohmann, 2003; PubMed: Diers, 2005 - - Germline - - - 0 - Jorge Oliveira
+/. 2 c.121del r.(?) p.(Gln41Argfs*8) - pathogenic g.68673571del g.68906103del - - IGHMBP2_000030 - PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 2 c.127C>T r.(?) p.(Arg43*) ACMG pathogenic g.68673577C>T g.68906109C>T - - IGHMBP2_000042 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+/. - c.127C>T r.(?) p.(Arg43Ter) - pathogenic g.68673577C>T g.68906109C>T IGHMBP2(NM_002180.2):c.127C>T (p.R43*) - IGHMBP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 2 c.127C>T r.(?) p.(Arg43*) - pathogenic g.68673577C>T g.68906109C>T Arg 43 Stop, base 127 cga to tga - IGHMBP2_000042 - PubMed: Pitt, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 2 c.138T>A r.(?) p.(Cys46*) - pathogenic g.68673588T>A g.68906120T>A - - IGHMBP2_000026 - - - - Germline - - - 0 - Andreas Laner
+/. - c.138T>A r.(?) p.(Cys46Ter) - pathogenic g.68673588T>A g.68906120T>A IGHMBP2(NM_002180.2):c.138T>A (p.C46*) - IGHMBP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.138T>A r.(?) p.Cys46* ACMG pathogenic g.68673588T>A g.68906120T>A - - IGHMBP2_000026 ACMG grading: PVS1,PP5,PM2; no second variant in IGHMBP2 detected - - rs372000714 Germline - - - 0 - Andreas Laner
+/. 2 c.138T>A r.(?) p.(Cys46*) - pathogenic g.68673588T>A g.68906120T>A - - IGHMBP2_000026 - PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. - c.138T>A r.(?) p.(Cys46Ter) - pathogenic g.68673588T>A - IGHMBP2(NM_002180.2):c.138T>A (p.C46*) - IGHMBP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 c.151C>G r.(?) p.(Gln51Glu) - benign g.68673601C>G g.68906133C>G - - IGHMBP2_000089 Segregation analysis: son is affected and has heterozygous, probably pathogenic mutations in IGHMBP2-gene: c.1082T>C; p.Leu361Pro und c.138T>A; (p.Cys46*) - - rs117061430 Germline - - - 0 - Andreas Laner
-/. - c.151C>G r.(?) p.(Gln51Glu) - benign g.68673601C>G g.68906133C>G IGHMBP2(NM_002180.2):c.151C>G (p.Q51E) - IGHMBP2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.151C>G r.(?) p.(Gln51Glu) - likely benign g.68673601C>G g.68906133C>G IGHMBP2(NM_002180.2):c.151C>G (p.Q51E) - IGHMBP2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.163C>T r.(?) p.(Gln55Ter) - pathogenic g.68673613C>T g.68906145C>T IGHMBP2(NM_002180.2):c.163C>T (p.Q55*) - IGHMBP2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 2 c.163C>T r.(?) p.(Gln55*) - pathogenic (recessive) g.68673613C>T g.68906145C>T - - IGHMBP2_000077 - PubMed: Guenther, 2007 - - Germline - - - 0 - Jorge Oliveira
?/. - 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
-/. - c.180C>T r.(?) p.(Tyr60=) - benign g.68673630C>T g.68906162C>T IGHMBP2(NM_002180.2):c.180C>T (p.Y60=) - IGHMBP2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. 2 c.180C>T r.(?) p.(=) - benign g.68673630C>T g.68906162C>T - - IGHMBP2_000009 - PubMed: Grohmann, 2001 - - Germline - - - 0 - Jorge Oliveira
-/. 2 c.180C>T r.(?) p.(=) - benign g.68673630C>T g.68906162C>T - - IGHMBP2_000009 - - - - Germline - - - 0 - Jorge Oliveira
?/. - 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 - - - 0 - VKGL-NL_Nijmegen
?/. - 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
?/. - c.181G>C r.(?) p.(Gly61Arg) - VUS g.68673631G>C - IGHMBP2(NM_002180.2):c.181G>C (p.(Gly61Arg), p.G61R) - IGHMBP2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 c.240T>A r.(?) p.(Ser80Arg) - VUS g.68673690T>A g.68906222T>A - - IGHMBP2_000088 - - - - Germline - - - 0 - Andreas Laner
+/. 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 - - - 0 - Jorge Oliveira
-/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_Utrecht
-/. 2i c.257-101G>C r.(?) p.(=) - benign g.68675512G>C g.68908044G>C - - IGHMBP2_000052 - - - rs61887150 Germline - - - 0 - Jorge Oliveira
-?/. - 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
?/. - c.277G>A r.(?) p.Asp93Asn ACMG VUS g.68675633G>A g.68908165G>A - - IGHMBP2_000168 - - - rs200897747 Germline - - - 0 - Andreas Laner
?/. - 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
+?/. - c.344C>T r.(?) p.(Thr115Met) - likely pathogenic g.68675700C>T - - - IGHMBP2_000219 - - - - Unknown - - - - - Sha Hong
-?/. - c.344C>T r.(?) p.(Thr115Met) - likely benign g.68675700C>T g.68908232C>T - - IGHMBP2_000219 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.020 - 0 - Global Variome, with Curator vacancy
+?/. - c.344C>T r.(?) p.(Thr115Met) - likely pathogenic g.31815344dup g.31793796dup IGHMBP2 (NM_002180.2): c.344C>T(p.T115M)/CDS10-14 duplication - IGHMBP2_000219 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 169 - 0 - LOVD
-/. - 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
+/. - c.388C>T r.(?) p.(Arg130Ter) - pathogenic g.68675744C>T g.68908276C>T IGHMBP2(NM_002180.2):c.388C>T (p.R130*) - IGHMBP2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 3 c.388C>T r.(?) p.(Arg130*) - pathogenic g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 3 c.388C>T r.(?) p.(Arg130*) - pathogenic g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 3 c.388C>T r.(?) p.(Arg130*) - pathogenic (recessive) g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Guenther, 2007 - - Germline - - - 0 - Jorge Oliveira
+/. 3 c.388C>T r.(?) p.(Arg130*) - pathogenic (recessive) g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Giannini, 2006 - - Germline - - - 0 - Jorge Oliveira
+/. 3 c.388C>T r.(?) p.(Arg130*) - pathogenic (recessive) g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Giannini, 2006 - - Germline - - - 0 - Jorge Oliveira
+/. - c.439C>T r.(?) p.(Arg147Ter) - pathogenic g.68675795C>T g.68908327C>T IGHMBP2(NM_002180.2):c.439C>T (p.R147*) - IGHMBP2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 3 c.439C>T r.(?) p.(Arg147*) - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 3 c.439C>T r.(?) p.(Arg147*) - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. - c.439C>T r.(?) p.(Arg147*) - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - Johan den Dunnen
?/. - 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
?/. - 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
-/. 3i c.450-72G>T r.(?) p.(=) - benign g.68675930G>T g.68908462G>T - - IGHMBP2_000053 - - - rs10896378 Germline - - - 0 - Jorge Oliveira
+/. - c.547+1G>A r.spl p.? ACMG likely pathogenic g.68676100G>A g.68908632G>A - - IGHMBP2_000169 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
+?/. - c.547+1G>A r.spl? p.? - likely pathogenic g.68676100G>A g.68908632G>A IGHMBP2(NM_002180.2):c.547+1G>A - IGHMBP2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - 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
+/. - c.575T>C r.(?) p.(Leu192Pro) - pathogenic g.68678935T>C g.68911467T>C IGHMBP2(NM_002180.2):c.575T>C (p.L192P) - IGHMBP2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 5 c.575T>C r.(?) p.(Leu192Pro) - pathogenic g.68678935T>C g.68911467T>C - - IGHMBP2_000015 not in 60 controls PubMed: Grohmann, 2003; PubMed: Diers, 2005 - - Germline - - - 0 - Jorge Oliveira
+/. - c.587A>G r.(?) p.(Gln196Arg) - pathogenic g.68678947A>G g.68911479A>G IGHMBP2(NM_002180.2):c.587A>G (p.Q196R) - IGHMBP2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 5 c.587A>G r.(?) p.(Gln196Arg) - pathogenic g.68678947A>G g.68911479A>G - - IGHMBP2_000046 Not in 50 controls PubMed: Maystadt, 2004 - - Germline - - - 0 - Jorge Oliveira
+/. - c.587A>G r.(?) p.(Gln196Arg) - pathogenic g.68678947A>G g.68911479A>G IGHMBP2(NM_002180.2):c.587A>G (p.Q196R) - IGHMBP2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 5 c.602T>C r.(?) p.(Leu201Ser) - benign g.68678962T>C g.68911494T>C - - IGHMBP2_000054 - - - rs560096 Germline - - - 0 - Andreas Laner
-/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 5 c.602T>C r.(?) p.(Leu201Ser) - benign g.68678962T>C g.68911494T>C - - IGHMBP2_000054 - - - rs560096 Germline - - - 0 - Jorge Oliveira
+/. - c.616C>T r.(?) p.(Gln206Ter) - pathogenic g.68678976C>T g.68911508C>T IGHMBP2(NM_002180.2):c.616C>T (p.Q206*) - IGHMBP2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 5 c.616C>T r.(?) p.(Gln206*) - pathogenic (recessive) g.68678976C>T g.68911508C>T - - IGHMBP2_000075 - PubMed: Guenther, 2007 - - Germline - - - 0 - Jorge Oliveira
?/. - c.638A>G r.(?) p.(His213Arg) - VUS g.68678998A>G g.68911530A>G IGHMBP2(NM_002180.2):c.638A>G (p.H213R) - IGHMBP2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 5 c.638A>G r.(?) p.(His213Arg) - pathogenic (recessive) g.68678998A>G g.68911530A>G - - IGHMBP2_000008 not in 50 controls PubMed: Grohmann, 2001; PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 5 c.638A>G r.(?) p.(His213Arg) - pathogenic (recessive) g.68678998A>G g.68911530A>G - - IGHMBP2_000008 not in 50 controls PubMed: Grohmann, 2001; PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. - c.647C>T r.(?) p.(Pro216Leu) - pathogenic g.68679007C>T g.68911539C>T IGHMBP2(NM_002180.2):c.647C>T (p.P216L) - IGHMBP2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 5 c.647C>T r.(?) p.(Pro216Leu) - pathogenic (recessive) g.68679007C>T g.68911539C>T - - IGHMBP2_000044 Not in 50 controls PubMed: Maystadt, 2004 - - Germline - - - 0 - Jorge Oliveira
+/. - c.661A>G r.(?) p.(Thr221Ala) - pathogenic g.68679021A>G g.68911553A>G IGHMBP2(NM_002180.2):c.661A>G (p.T221A) - IGHMBP2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 5 c.661A>G r.(?) p.(Thr221Ala) - pathogenic g.68679021A>G g.68911553A>G - - IGHMBP2_000037 not in 60 controls PubMed: Grohmann, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 5 c.661del r.(?) p.(Thr221Profs*12) - pathogenic g.68679021del g.68911553del Del A base 661 - IGHMBP2_000039 - PubMed: Pitt, 2003 - - Germline - - - 0 - Jorge Oliveira
+/. 5 c.661del r.(?) p.(Thr221Profs*12) - pathogenic (recessive) g.68679021del g.68911553del - - IGHMBP2_000039 - PubMed: Guenther, 2007 - - Germline - - - 0 - Jorge Oliveira
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