Full data view for gene IGHMBP2

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     

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     
+?/. 7i_15_ c.(1060+1_1061-1)_(*1_?)del r.? p.? Both (homozygous) - likely pathogenic g.(?_68696651)_(68707199_?)del - chr11:68696651-?_68707199+?del - IGHMBP2_000228 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-1035 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+?/. - c.1418+1_1419-1)_(2784+1_2785-1)dup r.(?) p.(?) Unknown - 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 - DNA SEQ-NG-I blood - ? WHP69 PubMed: Sun 2018 - M - China - - 0 - - 1 LOVD
-/. 1 c.-136_-135insCGCCATCTTCCCGC r.(?) p.(=) Unknown - benign g.68671285_68671286insCGCCATCTTCCCGC g.68903817_68903818insCGCCATCTTCCCGC - - IGHMBP2_000006 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F6; 25; 8 PubMed: Grohmann, 2001 - F yes Italy - - 0 - - 1 Jorge Oliveira
-/. 1 c.-136_-135insCGCCATCTTCCCGC r.(?) p.(=) Unknown - benign g.68671285_68671286insCGCCATCTTCCCGC g.68903817_68903818insCGCCATCTTCCCGC - - IGHMBP2_000006 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F3; 7; 6 PubMed: Grohmann, 2001 - F yes Turkey - - 0 - - 1 Jorge Oliveira
-/. - c.-131_-130insTTCCCGCGCCTC r.(?) p.(=) Unknown - benign g.68671290_68671291insTTCCCGCGCCTC g.68903822_68903823insTTCCCGCGCCTC MRPL21(NM_181515.2):c.-276_-275insGCGGGAAGAGGC - IGHMBP2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-68T>C r.(=) p.(=) Parent #1 - benign g.68671353T>C g.68903885T>C - - IGHMBP2_000085 - - - rs57258566 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 4 c.-2C>T r.(=) p.(=) Parent #1 - benign g.68671419C>T g.68903951C>T - - IGHMBP2_000050 - - - rs4930624 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-2C>T r.(?) p.(=) Unknown - benign g.68671419C>T g.68903951C>T IGHMBP2(NM_002180.2):c.-2C>T - IGHMBP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-2C>T r.(?) p.(=) Unknown - benign g.68671419C>T g.68903951C>T IGHMBP2(NM_002180.2):c.-2C>T - IGHMBP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.-2C>T r.(?) p.(=) Unknown - benign g.68671419C>T g.68903951C>T - - IGHMBP2_000050 - - - rs493062 Germline - - - 0 - DNA SEQ - - DSMA-1 623SMA - - F yes Portugal - - 0 - - 1 Jorge Oliveira
?/. 1_15 c.? r.(?) p.? Unknown - VUS g.? - - - IGHMBP2_000000 unknown variant 2nd allele - - - Germline - - - 0 - DNA SEQ - - DSMA-1 9 PubMed: Grohmann, 2003 - M - Germany - - 0 - - 1 Jorge Oliveira
?/. 1_15 c.? r.(?) p.? Unknown - VUS g.? - - - IGHMBP2_000000 unknown variant 2nd allele - - - Germline - - - 0 - DNA SEQ - - DSMA-1 2 PubMed: Pitt, 2003 - - - - - 3m 0 - - 1 Jorge Oliveira
?/. 1_15 c.? r.(?) p.? Unknown - VUS g.? - - - IGHMBP2_000000 unknown variant 2nd allele - - - Germline - - - 0 - DNA SEQ - - DSMA-1 6 PubMed: Pitt, 2003 - - - - - 3m 0 - - 1 Jorge Oliveira
?/. 1_15 c.? r.(?) p.? Paternal (inferred) - VUS g.? - - - IGHMBP2_000000 unknown variant 2nd allele - - - Germline - - - 0 - DNA, RNA DHPLC, RT-PCR, SEQ - - DSMA-1 P27 PubMed: Maystadt, 2004 - - - - - 6m 0 - - 1 Jorge Oliveira
+/. - c.? r.(?) p.(Arg?Cys) Parent #2 - pathogenic (recessive) g.? - 61C>T (Arg21Cys) - IGHMBP2_000000 - PubMed: Mahler 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? Pat16 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Germany - - 0 - - 1 Johan den Dunnen
+/. 2 c.?delC r.(?) p.(?) Parent #2 - pathogenic (recessive) g.? - 129delC - IGHMBP2_000082 - PubMed: Giannini, 2006 - - Germline - - - 0 - DNA SEQ - - DSMA-1 case 2 PubMed: Giannini, 2006 - M - (Italy) - >20m 0 - - 1 Jorge Oliveira
+?/. - c.2T>C r.(?) p.0? Unknown - likely pathogenic (recessive) g.68671422T>C g.68903954T>C p.(Met1?) - IGHMBP2_000211 AR, biparental inheritance PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT Pat-IGHMBP2-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. - c.2T>C r.(?) p.0? Unknown - likely pathogenic (recessive) g.68671422T>C g.68903954T>C p.(Met1?) - IGHMBP2_000211 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT Pat-IGHMBP2-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.50T>C r.(?) p.(Leu17Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 1 c.50T>C r.(?) p.(Leu17Pro) Parent #1 - pathogenic (recessive) g.68671470T>C g.68904002T>C - - IGHMBP2_000067 not in 105 controls PubMed: Guenther, 2007 - - Germline - - - 0 - DNA SEQ - - DSMA-1 1 PubMed: Guenther, 2007 - - - United Kingdom (Great Britain) - - 0 - - 1 Jorge Oliveira
-/. 1 c.57T>C r.(=) p.(=) Parent #1 - benign g.68671477T>C g.68904009T>C - - IGHMBP2_000051 - - - rs1249463 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.57T>C r.(?) p.(Leu19=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.57T>C r.(?) p.(Leu19=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.57T>C r.(?) p.(Leu19=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 1 c.57T>C r.(?) p.(=) Unknown - benign g.68671477T>C g.68904009T>C - - IGHMBP2_000051 - - - rs1249463 Germline - - - 0 - DNA SEQ - - DSMA-1 623SMA - - F yes Portugal - - 0 - - 1 Jorge Oliveira
-?/. - c.103A>G r.(?) p.(Ile35Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.114del r.(?) p.(Glu39Serfs*10) Unknown - pathogenic g.68673564del g.68906096del - - IGHMBP2_000013 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 2 PubMed: Grohmann, 2003 - F - Israel - - 0 - - 1 Jorge Oliveira
+/. 2 c.114del r.(?) p.(Glu39Serfs*10) Unknown - pathogenic g.68673564del g.68906096del - - IGHMBP2_000013 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 2 PubMed: Grohmann, 2003 - F - Israel - - 0 - - 1 Jorge Oliveira
+/. - c.121C>T r.(?) p.(Gln41Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 2 c.121C>T r.(?) p.(Gln41*) Maternal (confirmed) - pathogenic (recessive) g.68673571C>T g.68906103C>T - - IGHMBP2_000001 - PubMed: Grohmann, 2001; PubMed: Grohmann, 2003; PubMed: Diers, 2005 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F4; 18; 7 PubMed: Grohmann, 2001 affected sibling F no Germany - - 0 - - 2 Jorge Oliveira
+/. 2 c.121del r.(?) p.(Gln41Argfs*8) Unknown - pathogenic g.68673571del g.68906103del - - IGHMBP2_000030 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 21 PubMed: Grohmann, 2003 - F - Hungary - - 0 - - 1 Jorge Oliveira
+/. 2 c.127C>T r.(?) p.(Arg43*) Both (homozygous) ACMG pathogenic g.68673577C>T g.68906109C>T - - IGHMBP2_000042 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - DSMA-1 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. - c.127C>T r.(?) p.(Arg43Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 2 c.127C>T r.(?) p.(Arg43*) Unknown - pathogenic g.68673577C>T g.68906109C>T Arg 43 Stop, base 127 cga to tga - IGHMBP2_000042 - PubMed: Pitt, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 9 PubMed: Pitt, 2003 - - - - - 9m15d 0 - - 1 Jorge Oliveira
+/. 2 c.138T>A r.(?) p.(Cys46*) Parent #1 - pathogenic g.68673588T>A g.68906120T>A - - IGHMBP2_000026 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.138T>A r.(?) p.(Cys46Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. - c.138T>A r.(?) p.Cys46* Unknown ACMG pathogenic g.68673588T>A g.68906120T>A - - IGHMBP2_000026 ACMG grading: PVS1,PP5,PM2; no second variant in IGHMBP2 detected - - rs372000714 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
+/. 2 c.138T>A r.(?) p.(Cys46*) Unknown - pathogenic g.68673588T>A g.68906120T>A - - IGHMBP2_000026 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 14 PubMed: Grohmann, 2003 - F - Germany - - 0 - - 1 Jorge Oliveira
+/. - c.138T>A r.(?) p.(Cys46Ter) Unknown - pathogenic g.68673588T>A - IGHMBP2(NM_002180.2):c.138T>A (p.C46*) - IGHMBP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.151C>G r.(?) p.(Gln51Glu) Parent #1 - 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 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.151C>G r.(?) p.(Gln51Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.151C>G r.(?) p.(Gln51Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. - c.163C>T r.(?) p.(Gln55Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 2 c.163C>T r.(?) p.(Gln55*) Parent #1 - pathogenic (recessive) g.68673613C>T g.68906145C>T - - IGHMBP2_000077 - PubMed: Guenther, 2007 - - Germline - - - 0 - DNA SEQ - - DSMA-1 8 PubMed: Guenther, 2007 - - - Sweden - - 0 - - 1 Jorge Oliveira
?/. - c.167G>A r.(?) p.(Arg56His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.180C>T r.(?) p.(Tyr60=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 2 c.180C>T r.(?) p.(=) Unknown - benign g.68673630C>T g.68906162C>T - - IGHMBP2_000009 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F2; 10 PubMed: Grohmann, 2001 Four affected siblings F yes Lebanon - - 0 - - 5 Jorge Oliveira
-/. 2 c.180C>T r.(?) p.(=) Unknown - benign g.68673630C>T g.68906162C>T - - IGHMBP2_000009 - - - - Germline - - - 0 - DNA SEQ - - DSMA-1 623SMA - - F yes Portugal - - 0 - - 1 Jorge Oliveira
?/. - c.181G>C r.(?) p.(Gly61Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.181G>C r.(?) p.(Gly61Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181G>C r.(?) p.(Gly61Arg) Unknown - VUS g.68673631G>C - IGHMBP2(NM_002180.2):c.181G>C (p.(Gly61Arg), p.G61R) - IGHMBP2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.240T>A r.(?) p.(Ser80Arg) Parent #1 - VUS g.68673690T>A g.68906222T>A - - IGHMBP2_000088 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 2i_7i c.(246+1_247-1)_(1060+1_1061-1)del r.247_1060del p.Phe83Valfs*8 Paternal (confirmed) - pathogenic (recessive) g.? - - - IGHMBP2_000066 deletion of exons 3-7 (18.5 kb) PubMed: Guenther, 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DSMA-1 P1 PubMed: Guenther, 2004 - M no Italy - >6y 0 - - 1 Jorge Oliveira
-/. - c.256+9G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.256+9G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 2i c.257-101G>C r.(?) p.(=) Unknown - benign g.68675512G>C g.68908044G>C - - IGHMBP2_000052 - - - rs61887150 Germline - - - 0 - DNA SEQ - - DSMA-1 623SMA - - F yes Portugal - - 0 - - 1 Jorge Oliveira
-?/. - c.257-10G>C r.(=) p.(=) Unknown - likely benign g.68675603G>C - IGHMBP2(NM_002180.2):c.257-10G>C - IGHMBP2_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277G>A r.(?) p.Asp93Asn Unknown ACMG VUS g.68675633G>A g.68908165G>A - - IGHMBP2_000168 - - - rs200897747 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
?/. - c.304G>T r.(?) p.(Ala102Ser) Unknown - VUS g.68675660G>T - IGHMBP2(NM_002180.2):c.304G>T (p.A102S) - IGHMBP2_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.344C>T r.(?) p.(Thr115Met) Unknown - likely pathogenic g.68675700C>T - - - IGHMBP2_000219 - - - - Unknown - - - - - DNA SEQ-NG - - DSMA-1 80 - - M - China - - - - - 1 Sha Hong
-?/. - c.344C>T r.(?) p.(Thr115Met) Unknown - 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 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.344C>T r.(?) p.(Thr115Met) Unknown - 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 - DNA SEQ-NG-I blood - ? WHP69 PubMed: Sun 2018 - M - China - - 0 - - 1 LOVD
-/. - c.366C>T r.(?) p.(His122=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.388C>T r.(?) p.(Arg130Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 3 c.388C>T r.(?) p.(Arg130*) Unknown - pathogenic g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 6 PubMed: Grohmann, 2003 - M - Ghana - - 0 - - 1 Jorge Oliveira
+/. 3 c.388C>T r.(?) p.(Arg130*) Unknown - pathogenic g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 21 PubMed: Grohmann, 2003 - F - Hungary - - 0 - - 1 Jorge Oliveira
+/. 3 c.388C>T r.(?) p.(Arg130*) Parent #1 - pathogenic (recessive) g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Guenther, 2007 - - Germline - - - 0 - DNA SEQ - - DSMA-1 10 PubMed: Guenther, 2007 - - - Croatia (Hrvatska) - - 0 - - 1 Jorge Oliveira
+/. 3 c.388C>T r.(?) p.(Arg130*) Paternal (inferred) - pathogenic (recessive) g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Giannini, 2006 - - Germline - - - 0 - DNA SEQ - - DSMA-1 Case 1 PubMed: Giannini, 2006 - M no (Italy) - 5m 0 - - 1 Jorge Oliveira
+/. 3 c.388C>T r.(?) p.(Arg130*) Maternal (inferred) - pathogenic (recessive) g.68675744C>T g.68908276C>T - - IGHMBP2_000017 - PubMed: Giannini, 2006 - - Germline - - - 0 - DNA SEQ - - DSMA-1 Case 1 PubMed: Giannini, 2006 - M no (Italy) - 5m 0 - - 1 Jorge Oliveira
+/. - c.439C>T r.(?) p.(Arg147Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 3 c.439C>T r.(?) p.(Arg147*) Unknown - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 15 PubMed: Grohmann, 2003 - F - Spain - - 0 - - 1 Jorge Oliveira
+/. 3 c.439C>T r.(?) p.(Arg147*) Unknown - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 28 PubMed: Grohmann, 2003 - F - Germany - - 0 - - 1 Jorge Oliveira
+/. - c.439C>T r.(?) p.(Arg147*) Parent #1 - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat75 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
?/. - c.440G>A r.(?) p.(Arg147Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449+1G>C r.spl? p.? Unknown - VUS g.68675806G>C g.68908338G>C IGHMBP2(NM_002180.2):c.449+1G>C - IGHMBP2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.450-72G>T r.(?) p.(=) Unknown - benign g.68675930G>T g.68908462G>T - - IGHMBP2_000053 - - - rs10896378 Germline - - - 0 - DNA SEQ - - DSMA-1 623SMA - - F yes Portugal - - 0 - - 1 Jorge Oliveira
+/. - c.547+1G>A r.spl p.? Parent #2 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 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat73 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+?/. - c.547+1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548-20C>T r.(=) p.(=) Unknown - likely benign g.68678888C>T - IGHMBP2(NM_002180.2):c.548-20C>T - IGHMBP2_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.575T>C r.(?) p.(Leu192Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 5 c.575T>C r.(?) p.(Leu192Pro) Unknown - pathogenic g.68678935T>C g.68911467T>C - - IGHMBP2_000015 not in 60 controls PubMed: Grohmann, 2003; PubMed: Diers, 2005 - - Germline - - - 0 - DNA SEQ - - DSMA-1 5; 2 PubMed: Grohmann, 2003; PubMed: Diers, 2005 - F - Ghana - - 0 - - 1 Jorge Oliveira
+/. - c.587A>G r.(?) p.(Gln196Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 5 c.587A>G r.(?) p.(Gln196Arg) Unknown - pathogenic g.68678947A>G g.68911479A>G - - IGHMBP2_000046 Not in 50 controls PubMed: Maystadt, 2004 - - Germline - - - 0 - DNA DHPLC, SEQ - - DSMA-1 P6 PubMed: Maystadt, 2004 - - - - - 5m15d 0 - - 1 Jorge Oliveira
+/. - c.587A>G r.(?) p.(Gln196Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.602T>C r.(?) p.(Leu201Ser) Parent #1 - benign g.68678962T>C g.68911494T>C - - IGHMBP2_000054 - - - rs560096 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.602T>C r.(?) p.(Leu201Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.602T>C r.(?) p.(Leu201Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.602T>C r.(?) p.(Leu201Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 5 c.602T>C r.(?) p.(Leu201Ser) Unknown - benign g.68678962T>C g.68911494T>C - - IGHMBP2_000054 - - - rs560096 Germline - - - 0 - DNA SEQ - - DSMA-1 623SMA - - F yes Portugal - - 0 - - 1 Jorge Oliveira
+/. - c.616C>T r.(?) p.(Gln206Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 5 c.616C>T r.(?) p.(Gln206*) Parent #1 - pathogenic (recessive) g.68678976C>T g.68911508C>T - - IGHMBP2_000075 - PubMed: Guenther, 2007 - - Germline - - - 0 - DNA SEQ - - DSMA-1 7 PubMed: Guenther, 2007 - - - United States - - 0 - - 1 Jorge Oliveira
?/. - c.638A>G r.(?) p.(His213Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 5 c.638A>G r.(?) p.(His213Arg) Paternal (confirmed) - pathogenic (recessive) g.68678998A>G g.68911530A>G - - IGHMBP2_000008 not in 50 controls PubMed: Grohmann, 2001; PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F2; 10 PubMed: Grohmann, 2001 Four affected siblings F yes Lebanon - - 0 - - 5 Jorge Oliveira
+/. 5 c.638A>G r.(?) p.(His213Arg) Maternal (confirmed) - pathogenic (recessive) g.68678998A>G g.68911530A>G - - IGHMBP2_000008 not in 50 controls PubMed: Grohmann, 2001; PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F2; 10 PubMed: Grohmann, 2001 Four affected siblings F yes Lebanon - - 0 - - 5 Jorge Oliveira
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 5 c.647C>T r.(?) p.(Pro216Leu) Parent #1 - pathogenic (recessive) g.68679007C>T g.68911539C>T - - IGHMBP2_000044 Not in 50 controls PubMed: Maystadt, 2004 - - Germline - - - 0 - DNA SEQ - - DSMA-1 P5 PubMed: Maystadt, 2004 - - - - - 3m 0 - - 1 Jorge Oliveira
+/. - c.661A>G r.(?) p.(Thr221Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 5 c.661A>G r.(?) p.(Thr221Ala) Unknown - pathogenic g.68679021A>G g.68911553A>G - - IGHMBP2_000037 not in 60 controls PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 29 PubMed: Grohmann, 2003 - M - Australia - - 0 - - 1 Jorge Oliveira
+/. 5 c.661del r.(?) p.(Thr221Profs*12) Unknown - pathogenic g.68679021del g.68911553del Del A base 661 - IGHMBP2_000039 - PubMed: Pitt, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA-1 2 PubMed: Pitt, 2003 - - - - - 3m 0 - - 1 Jorge Oliveira
+/. 5 c.661del r.(?) p.(Thr221Profs*12) Parent #1 - pathogenic (recessive) g.68679021del g.68911553del - - IGHMBP2_000039 - PubMed: Guenther, 2007 - - Germline - - - 0 - DNA SEQ - - DSMA-1 2 PubMed: Guenther, 2007 - - - Italy - - 0 - - 1 Jorge Oliveira
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