Full data view for gene MAN2B1

Information The variants shown are described using the NM_000528.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-2689A>G r.(?) p.(=) Unknown - likely benign g.12780204T>C - WDR83OS(NM_016145.3):c.14A>G (p.(Asn5Ser)) - DHPS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19G>C r.(?) p.(Ala7Pro) Unknown - likely benign g.12777497C>G - MAN2B1(NM_000528.3):c.19G>C (p.A7P) - DHPS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48G>A r.(?) p.(Leu16=) Unknown - likely benign g.12777468C>T - MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=) - DHPS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48G>A r.(?) p.(Leu16=) Unknown - likely benign g.12777468C>T - MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=) - DHPS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.65G>A r.(?) p.(Trp22*) Unknown - pathogenic g.12777451C>T - MAN2B1(NM_000528.3):c.65G>A (p.W22*) - DHPS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160-7T>C r.(=) p.(=) Unknown - likely benign g.12776626A>G - MAN2B1(NM_000528.3):c.160-7T>C - DHPS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.164G>T r.(?) p.(Cys55Phe) Unknown - pathogenic g.12776615C>A g.12665801C>A - - MAN2B1_000003 submitted through SIB; ExPASy_068034; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.179C>T r.(?) p.(Pro60Leu) Unknown - VUS g.12776600G>A - MAN2B1(NM_000528.4):c.179C>T (p.(Pro60Leu)) - DHPS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.215A>T r.(?) p.(His72Leu) Unknown - pathogenic g.12776564T>A g.12665750T>A - - MAN2B1_000002 submitted through SIB; ExPASy_003338 PubMed: Gotoda et al (1998) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 2 c.215A>T r.215a>u p.His72Leu Paternal (confirmed) - pathogenic g.12776564T>A g.12665750T>A A212T (His71Leu) - MAN2B1_000002 not in 46 control chromosomes; 20% residual acidic alpha-mannosidase activity (fibroblasts) PubMed: Nilssen 1997, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat2 M yes Palestine - - - - - 1 LOVD
+/? 2 c.215A>T r.215a>u p.His72Leu Maternal (inferred) - pathogenic g.12776564T>A g.12665750T>A A212T (His71Leu) - MAN2B1_000002 not in 46 control chromosomes; 20% residual acidic alpha-mannosidase activity (fibroblasts) PubMed: Nilssen 1997, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat2 M yes Palestine - - - - - 1 LOVD
+/? 2 c.215A>T r.215a>u p.His72Leu Paternal (confirmed) - pathogenic g.12776564T>A g.12665750T>A A212T (His71Leu) - MAN2B1_000002 not in 46 control chromosomes; 20% residual acidic alpha-mannosidase activity (fibroblasts) PubMed: Nilssen 1997, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat1 M yes Palestine - - - - - 1 LOVD
+/? 2 c.215A>T r.215a>u p.His72Leu Maternal (inferred) - pathogenic g.12776564T>A g.12665750T>A A212T (His71Leu) - MAN2B1_000002 not in 46 control chromosomes; 20% residual acidic alpha-mannosidase activity (fibroblasts) PubMed: Nilssen 1997, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat1 M yes Palestine - - - - - 1 LOVD
+/? 2 c.215A>T r.215a>u p.His72Leu Paternal (confirmed) - pathogenic g.12776564T>A g.12665750T>A A212T (His71Leu) - MAN2B1_000002 not in 46 control chromosomes PubMed: Nilssen 1997, OMIM:var0001 - - Unknown - - - - - DNA, RNA SEQ - - Healthy/Control - - father of 09158146-Pats M yes Palestine - - - - - 1 LOVD
+/? ? c.222C>A r.(?) p.(Asp74Glu) Unknown - pathogenic g.12776557G>T g.12665743G>T - - MAN2B1_000004 submitted through SIB; ExPASy_068035; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.231G>A r.(?) p.(Trp77Ter) Unknown - pathogenic g.12776548C>T g.12665734C>T MAN2B1(NM_000528.4):c.231G>A (p.W77*) - MAN2B1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.262+2T>G r.spl? p.? Unknown - likely pathogenic g.12776515A>C g.12665701A>C MAN2B1(NM_000528.4):c.262+2T>G - MAN2B1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.262+3G>C r.spl? p.? Unknown - likely pathogenic g.12776514C>G - MAN2B1(NM_000528.4):c.262+3G>C - DHPS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.283G>C r.(?) p.(Ala95Pro) Unknown - pathogenic g.12776319C>G g.12665505C>G - - MAN2B1_000005 submitted through SIB; ExPASy_068036; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.295T>C r.(?) p.(Tyr99His) Unknown - pathogenic g.12776307A>G g.12665493A>G - - MAN2B1_000006 submitted through SIB; ExPASy_068037; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.308C>T r.(?) p.(Ser103Leu) Parent #2 - likely pathogenic g.12776294G>A g.12665480G>A - - MAN2B1_000112 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 496 PubMed: Stone 2017 family, 3 affected F - (United States) - - - - - 3 LOVD
?/. - c.376C>T r.(?) p.(Arg126Cys) Unknown - VUS g.12776226G>A g.12665412G>A MAN2B1(NM_000528.3):c.376C>T (p.R126C) - MAN2B1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.418C>T r.(?) p.(Arg140Ter) Parent #2 - pathogenic (recessive) g.12776184G>A g.12665370G>A - - MAN2B1_000125 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED2238.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
?/. - c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.12775781T>C - MAN2B1(NM_000528.3):c.455A>G (p.(Asn152Ser)) - DHPS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.475G>A r.(?) p.(Asp159Asn) Unknown - pathogenic g.12775761C>T g.12664947C>T - - MAN2B1_000007 submitted through SIB; ExPASy_068038; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.552C>A r.(?) p.(Gly184=) Unknown - likely benign g.12775684G>T g.12664870G>T MAN2B1(NM_000528.3):c.552C>A (p.G184=) - DHPS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.590C>G r.(?) p.(Pro197Arg) Unknown - pathogenic g.12775646G>C g.12664832G>C - - MAN2B1_000008 submitted through SIB; ExPASy_068039; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.595G>T r.(?) p.(Gly199Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.12775641C>A g.12664827C>A - - MAN2B1_000115 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8500032 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes - Baloch - - - - 3 Johan den Dunnen
+/? ? c.598C>A r.(?) p.(His200Asn) Unknown - pathogenic g.12775638G>T g.12664824G>T - - MAN2B1_000009 submitted through SIB; ExPASy_068040 PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.599A>T r.(?) p.(His200Leu) Unknown - pathogenic g.12775637T>A g.12664823T>A - - MAN2B1_000010 submitted through SIB; ExPASy_026412; The mutant has no residual alpha-mannosidase activity PubMed: Sbaragli et al (2005) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.599A>T r.(?) p.(His200Leu) Unknown - pathogenic g.12775637T>A g.12664823T>A - - MAN2B1_000010 submitted through SIB; ExPASy_026412; The mutant has no residual alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.605G>C r.(?) p.(Arg202Pro) Unknown - pathogenic g.12775631C>G g.12664817C>G - - MAN2B1_000011 submitted through SIB; ExPASy_068041 PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.619C>T r.(?) p.(Leu207=) Unknown - benign g.12775617G>A g.12664803G>A MAN2B1(NM_000528.4):c.619C>T (p.L207=) - MAN2B1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.685C>T r.(?) p.(Arg229Trp) Unknown - pathogenic g.12774595G>A g.12663781G>A - - MAN2B1_000012 submitted through SIB; ExPASy_068042 PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.719G>A r.(?) p.(Arg240Gln) Unknown - benign g.12774561C>T - MAN2B1(NM_000528.4):c.719G>A (p.(Arg240Gln)) - DHPS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.743C>T r.(?) p.(Pro248Leu) Unknown - likely benign g.12774537G>A g.12663723G>A MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L) - DHPS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743C>T r.(?) p.(Pro248Leu) Parent #1 - VUS g.12774537G>A g.12663723G>A - - DHPS_000006 conflicting interpretations of pathogenicity; 30 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117843968 Germline - 30/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 30 Mohammed Faruq
-?/. - c.743C>T r.(?) p.(Pro248Leu) Unknown - likely benign g.12774537G>A - MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L) - DHPS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.743C>T r.(?) p.(Pro248Leu) Unknown - likely benign g.12774537G>A - MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L) - DHPS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744G>A r.(?) p.(Pro248=) Unknown - likely benign g.12774536C>T - MAN2B1(NM_000528.4):c.744G>A (p.P248=) - DHPS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.747C>T r.(?) p.(Thr249=) Unknown - benign g.12774533G>A g.12663719G>A MAN2B1(NM_000528.4):c.747C>T (p.T249=) - DHPS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.748G>T r.(?) p.(Ala250Ser) Unknown - benign g.12774532C>A g.12663718C>A MAN2B1(NM_000528.4):c.748G>T (p.A250S) - MAN2B1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.749C>T r.(?) p.(Ala250Val) Unknown - VUS g.12774531G>A - MAN2B1(NM_000528.3):c.749C>T (p.(Ala250Val)) - DHPS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.763+2_763+8del r.spl p.? Unknown - pathogenic g.12774511_12774517del g.12663697_12663703del 763+2_763+8delTAGGGGG - MAN2B1_000050 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.779G>T r.(?) p.(Gly260Val) Unknown - likely benign g.12774261C>A - MAN2B1(NM_000528.4):c.779G>T (p.G260V) - DHPS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.788C>T r.(?) p.(Pro263Leu) Unknown - pathogenic g.12774252G>A g.12663438G>A - - MAN2B1_000013 submitted through SIB; ExPASy_068044; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.789G>A r.(?) p.(Pro263=) Unknown - likely benign g.12774251C>T - MAN2B1(NM_000528.3):c.789G>A (p.P263=) - DHPS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823G>A r.(?) p.(Asp275Asn) Unknown - VUS g.12774217C>T - MAN2B1(NM_000528.4):c.823G>A (p.D275N) - DHPS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.832C>G r.(?) p.(Leu278Val) Unknown - benign g.12774208G>C g.12663394G>C MAN2B1(NM_000528.4):c.832C>G (p.L278V) - MAN2B1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.832C>G r.(?) p.(Leu278Val) Unknown - benign g.12774208G>C g.12663394G>C MAN2B1(NM_000528.4):c.832C>G (p.L278V) - MAN2B1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844C>T r.(?) p.(Pro282Ser) Unknown - likely benign g.12774196G>A g.12663382G>A MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S) - MAN2B1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844C>T r.(?) p.(Pro282Ser) Unknown - likely benign g.12774196G>A g.12663382G>A MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S) - MAN2B1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844C>T r.(?) p.(Pro282Ser) Unknown - likely benign g.12774196G>A - MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S) - MAN2B1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844C>T r.(?) p.(Pro282Ser) Parent #1 - likely benign g.12774196G>A g.12663382G>A - - MAN2B1_000072 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat48 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
-/. - c.935C>A r.(?) p.(Thr312Asn) Unknown - benign g.12772165G>T g.12661351G>T MAN2B1(NM_000528.4):c.935C>A (p.T312N) - MAN2B1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.935C>A r.(?) p.(Thr312Asn) Unknown - likely benign g.12772165G>T - MAN2B1(NM_000528.4):c.935C>A (p.T312N) - MAN2B1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.935C>T r.(?) p.(Thr312Ile) Unknown - benign g.12772165G>A g.12661351G>A MAN2B1(NM_000528.4):c.935C>T (p.T312I) - MAN2B1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.935C>T r.(?) p.(Thr312Ile) Unknown - benign g.12772165G>A g.12661351G>A MAN2B1(NM_000528.4):c.935C>T (p.T312I) - MAN2B1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 7 c.935C>T r.935c>u p.Thr312Ile Paternal (confirmed) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 disrupts putative N-glycosylation site PubMed: Nilssen 1997 - - Germline - - MsiI - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat2 M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.935c>u p.Thr312Ile Maternal (inferred) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 disrupts putative N-glycosylation site PubMed: Nilssen 1997 - - Germline - - MsiI - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat2 M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.935c>u p.Thr312Ile Paternal (confirmed) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 disrupts putative N-glycosylation site PubMed: Nilssen 1997 - - Germline - - MsiI - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat1 M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.935c>u p.Thr312Ile Maternal (inferred) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 disrupts putative N-glycosylation site PubMed: Nilssen 1997 - - Germline - - MsiI - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat1 M yes Palestine - - - - - 1 LOVD
+/? 7 c.935C>T r.935c>u p.Thr312Ile Maternal (inferred) - pathogenic g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 - PubMed: Nilssen 1997 - - Unknown - - MsiI - - DNA, RNA SEQ - - Healthy/Control - - father of 09158146-Pats M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.935c>u p.Thr312Ile Paternal (confirmed) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 - PubMed: Nilssen 1997 - - Unknown - - MsiI - - DNA, RNA SEQ - - Healthy/Control - - father of 09158146-Pats M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.(=) p.(Thr312Ile) Paternal (confirmed) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 46 control chromosomes PubMed: Nilssen 1997 - - Unknown - 19/46 MsiI - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - - - - Palestine - - - - - 19 LOVD
+/? ? c.953C>T r.(?) p.(Ser318Leu) Unknown - pathogenic g.12772147G>A g.12661333G>A - - MAN2B1_000014 submitted through SIB; ExPASy_068046 PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.1010G>A r.(?) p.(Arg337Gln) Unknown - benign g.12772090C>T g.12661276C>T MAN2B1(NM_000528.4):c.1010G>A (p.R337Q) - MAN2B1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1010G>A r.(?) p.(Arg337Gln) Unknown - benign g.12772090C>T g.12661276C>T MAN2B1(NM_000528.4):c.1010G>A (p.R337Q) - MAN2B1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1026+2T>G r.spl? p.? Unknown - likely pathogenic g.12772072A>C g.12661258A>C MAN2B1(NM_000528.3):c.1026+2T>G (p.?) - MAN2B1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1026+2T>G r.spl? p.? Unknown - VUS g.12772072A>C - MAN2B1(NM_000528.3):c.1026+2T>G (p.?) - MAN2B1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1026+2T>G r.spl? p.? Unknown - pathogenic g.12772072A>C - MAN2B1(NM_000528.3):c.1026+2T>G (p.?) - MAN2B1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026+8C>T r.(=) p.(=) Unknown - likely benign g.12772066G>A g.12661252G>A MAN2B1(NM_000528.3):c.1026+8C>T - MAN2B1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1055T>C r.(?) p.(Leu352Pro) Unknown - pathogenic g.12769296A>G g.12658482A>G - - MAN2B1_000015 submitted through SIB; ExPASy_068048; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.1059C>T r.(?) p.(Tyr353=) Unknown - likely benign g.12769292G>A g.12658478G>A MAN2B1(NM_000528.3):c.1059C>T (p.Y353=) - MAN2B1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1063A>C r.(?) p.(Thr355Pro) Unknown - pathogenic g.12769288T>G g.12658474T>G - - MAN2B1_000038 submitted through SIB; ExPASy_003342 PubMed: Berg et al (1999) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1067C>G r.(?) p.(Pro356Arg) Unknown - pathogenic g.12769284G>C g.12658470G>C - - MAN2B1_000036 submitted through SIB; ExPASy_003343 PubMed: Gotoda et al (1998) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.1068C>G r.(?) p.(Pro356=) Unknown - benign g.12769283G>C g.12658469G>C MAN2B1(NM_000528.3):c.1068C>G (p.P356=), MAN2B1(NM_000528.4):c.1068C>G (p.P356=) - MAN2B1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1068C>G r.(?) p.(Pro356=) Unknown - likely benign g.12769283G>C g.12658469G>C MAN2B1(NM_000528.3):c.1068C>G (p.P356=), MAN2B1(NM_000528.4):c.1068C>G (p.P356=) - MAN2B1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110-8C>T r.(=) p.(=) Unknown - likely benign g.12769166G>A - MAN2B1(NM_000528.3):c.1110-8C>T (p.(=)) - MAN2B1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110-4G>A r.spl? p.? Unknown - likely benign g.12769162C>T - MAN2B1(NM_000528.3):c.1110-4G>A - MAN2B1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1136C>T r.(?) p.(Pro379Leu) Unknown - pathogenic g.12769132G>A g.12658318G>A - - MAN2B1_000016 submitted through SIB; ExPASy_068049 PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.1154A>G r.(?) p.(His385Arg) Unknown - VUS g.12769114T>C g.12658300T>C MAN2B1(NM_000528.3):c.1154A>G (p.(His385Arg)) - MAN2B1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1158G>A r.(?) p.(Gln386=) Unknown - benign g.12769110C>T g.12658296C>T MAN2B1(NM_000528.3):c.1158G>A (p.Q386=), MAN2B1(NM_000528.4):c.1158G>A (p.Q386=) - MAN2B1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1158G>A r.(?) p.(Gln386=) Unknown - likely benign g.12769110C>T g.12658296C>T MAN2B1(NM_000528.3):c.1158G>A (p.Q386=), MAN2B1(NM_000528.4):c.1158G>A (p.Q386=) - MAN2B1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1168G>T r.(?) p.(Gly390Cys) Unknown - pathogenic g.12769100C>A g.12658286C>A - - MAN2B1_000017 submitted through SIB; ExPASy_068050; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.1183C>T r.(?) p.(Arg395Trp) Unknown - VUS g.12769085G>A g.12658271G>A MAN2B1(NM_000528.3):c.1183C>T (p.R395W) - MAN2B1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1204G>A r.(?) p.(Glu402Lys) Unknown - VUS g.12769064C>T g.12658250C>T MAN2B1(NM_000528.3):c.1204G>A (p.E402K, p.(Glu402Lys)) - MAN2B1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1204G>A r.(?) p.(Glu402Lys) Unknown - pathogenic g.12769064C>T g.12658250C>T - - MAN2B1_000039 submitted through SIB; ExPASy_003344 PubMed: Berg et al (1999) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.1204G>A r.(?) p.(Glu402Lys) Unknown - VUS g.12769064C>T - MAN2B1(NM_000528.3):c.1204G>A (p.E402K, p.(Glu402Lys)) - MAN2B1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1204G>A r.(?) p.(Glu402Lys) Unknown - VUS g.12769064C>T - MAN2B1(NM_000528.3):c.1204G>A (p.E402K, p.(Glu402Lys)) - MAN2B1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1209C>A r.(?) p.(Arg403=) Unknown - likely benign g.12769059G>T g.12658245G>T MAN2B1(NM_000528.4):c.1209C>A (p.R403=) - MAN2B1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1213A>G r.(?) p.(Ser405Gly) Unknown - VUS g.12769055T>C g.12658241T>C MAN2B1(NM_000528.3):c.1213A>G (p.S405G) - MAN2B1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1231-13C>T r.(=) p.(=) Unknown - likely benign g.12768968G>A g.12658154G>A MAN2B1(NM_000528.4):c.1231-13C>T - MAN2B1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1238A>G r.(?) p.(Asn413Ser) Unknown - benign g.12768948T>C g.12658134T>C MAN2B1(NM_000528.4):c.1238A>G (p.N413S) - MAN2B1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1250C>G r.(?) p.(Ala417Gly) Unknown - likely benign g.12768936G>C - MAN2B1(NM_000528.3):c.1250C>G (p.(Ala417Gly)) - MAN2B1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1259G>T r.(?) p.(Gly420Val) Unknown - pathogenic g.12768927C>A g.12658113C>A - - MAN2B1_000018 submitted through SIB; ExPASy_068051; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.1309+10G>A r.(=) p.(=) Unknown - likely benign g.12768867C>T g.12658053C>T MAN2B1(NM_000528.3):c.1309+10G>A - MAN2B1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1333C>T r.(?) p.(His445Tyr) Unknown - pathogenic g.12768346G>A g.12657532G>A - - MAN2B1_000019 submitted through SIB; ExPASy_068052; The mutant has less than 20% of WT alpha-mannosidase activity PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1351G>T r.(?) p.(Gly451Cys) Unknown - pathogenic g.12768328C>A g.12657514C>A - - MAN2B1_000020 submitted through SIB; ExPASy_068053 PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1358C>A r.(?) p.(Ser453Tyr) Unknown - pathogenic g.12768321G>T g.12657507G>T - - MAN2B1_000021 submitted through SIB; ExPASy_026413 PubMed: Riise Stensland et al (2012) - - Unknown - - - - - DNA SEQ - - MANSA - - - - - - - - - - - 1 SIB - Livia Famiglietti
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