All variants in the MANBA gene

Information The variants shown are described using the NM_005908.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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     
+/. - c.? r.? p.? - pathogenic g.103590853_103590921insA - chr4 g.103590853_103590921ins103585729_103598877inv - MANBA_000000 Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message. - - - Germline - - - 0 - Jorge Asin Cayuela
?/. - c.106G>A r.(?) p.(Gly36Ser) - VUS g.103681946C>T g.102760789C>T MANBA(NM_005908.3):c.106G>A (p.(Gly36Ser)) - MANBA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.178-8A>G r.(=) p.(=) - likely benign g.103647848T>C g.102726691T>C MANBA(NM_005908.3):c.178-8A>G (p.(=)) - MANBA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.303G>A r.(?) p.(Glu101=) - likely benign g.103645094C>T - MANBA(NM_005908.3):c.303G>A (p.E101=) - MANBA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.314C>T r.(?) p.(Thr105Met) - VUS g.103645083G>A g.102723926G>A MANBA(NM_005908.3):c.314C>T (p.T105M) - MANBA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.315G>A r.(=) p.(=) - benign g.103645082C>T g.102723925C>T - - MANBA_000033 86 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6857760 Germline - 86/2792 individuals - 0 - Mohammed Faruq
-/. - c.315G>A r.(=) p.(=) - benign g.103645082C>T g.102723925C>T - - MANBA_000033 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6857760 Germline - 1/2792 individuals - 0 - Mohammed Faruq
-?/. - c.397G>A r.(?) p.(Val133Met) - likely benign g.103644180C>T - MANBA(NM_005908.3):c.397G>A (p.(Val133Met)) - MANBA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.397G>T r.(?) p.(Val133Leu) - likely benign g.103644180C>A - MANBA(NM_005908.3):c.397G>T (p.(Val133Leu)) - MANBA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.502C>T r.(?) p.(Pro168Ser) - likely benign g.103644075G>A g.102722918G>A MANBA(NM_005908.3):c.502C>T (p.(Pro168Ser)) - MANBA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.531T>C r.(?) p.(His177=) - likely benign g.103644046A>G - MANBA(NM_005908.4):c.531T>C (p.H177=) - MANBA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.617G>C r.(?) p.(Arg206Thr) - VUS g.103635651C>G - MANBA(NM_005908.3):c.617G>C (p.R206T) - MANBA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.651C>G r.(?) p.(Tyr217Ter) - pathogenic g.103635617G>C g.102714460G>C - - MANBA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.728G>C r.(?) p.(Ser243Thr) - likely benign g.103611874C>G g.102690717C>G MANBA(NM_005908.3):c.728G>C (p.(Ser243Thr)) - MANBA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.757G>A r.(?) p.(Val253Ile) - benign g.103611845C>T g.102690688C>T MANBA(NM_005908.4):c.757G>A (p.V253I) - MANBA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.960+1G>A r.spl? p.? - pathogenic g.103610730C>T g.102689573C>T MANBA(NM_005908.3):c.960+1G>A (, p.?) - MANBA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.960+1G>A r.spl? p.? - pathogenic g.103610730C>T - MANBA(NM_005908.3):c.960+1G>A (, p.?) - MANBA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.961-4G>A r.spl? p.? - likely benign g.103595231C>T g.102674074C>T MANBA(NM_005908.3):c.961-4G>A - MANBA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1039G>A r.(?) p.(Gly347Arg) - VUS g.103595149C>T g.102673992C>T MANBA(NM_005908.3):c.1039G>A (p.G347R) - MANBA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1113-4A>G r.spl? p.? - likely benign g.103592559T>C - MANBA(NM_005908.3):c.1113-4A>G - MANBA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1131G>C r.(?) p.(Gln377His) - likely benign g.103592537C>G g.102671380C>G MANBA(NM_005908.3):c.1131G>C (p.Q377H) - MANBA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1154A>G r.(?) p.(Asn385Ser) - VUS g.103592514T>C - MANBA(NM_005908.3):c.1154A>G (p.N385S) - MANBA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1226T>C r.(?) p.(Ile409Thr) - VUS g.103592442A>G - MANBA(NM_005908.3):c.1226T>C (p.I409T) - MANBA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1254C>G r.(?) p.(Ala418=) - likely benign g.103590183G>C - MANBA(NM_005908.3):c.1254C>G (p.A418=) - MANBA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1302A>G r.(?) p.(Ala434=) - likely benign g.103590135T>C - MANBA(NM_005908.3):c.1302A>G (p.A434=) - MANBA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1485+9T>C r.(=) p.(=) - likely benign g.103585833A>G g.102664676A>G MANBA(NM_005908.3):c.1485+9T>C - MANBA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1499G>A r.(?) p.(Arg500His) - VUS g.103579044C>T - MANBA(NM_005908.3):c.1499G>A (p.R500H) - MANBA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1499_1501del r.(?) p.(Arg500del) - VUS g.103579045_103579047del g.102657888_102657890del MANBA(NM_005908.3):c.1499_1501del (p.(Arg500del)), MANBA(NM_005908.3):c.1499_1501delGTC (p.R500del), MANBA(NM_005908.4):c.1499_1501delGTC (p.R500del) - MANBA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1499_1501del r.(?) p.(Arg500del) - VUS g.103579045_103579047del g.102657888_102657890del MANBA(NM_005908.3):c.1499_1501del (p.(Arg500del)), MANBA(NM_005908.3):c.1499_1501delGTC (p.R500del), MANBA(NM_005908.4):c.1499_1501delGTC (p.R500del) - MANBA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1499_1501del r.(?) p.(Arg500del) - VUS g.103579045_103579047del g.102657888_102657890del MANBA(NM_005908.3):c.1499_1501del (p.(Arg500del)), MANBA(NM_005908.3):c.1499_1501delGTC (p.R500del), MANBA(NM_005908.4):c.1499_1501delGTC (p.R500del) - MANBA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1649G>A r.(?) p.(Arg550Gln) - VUS g.103578894C>T g.102657737C>T MANBA(NM_005908.3):c.1649G>A (p.R550Q, p.(Arg550Gln)) - MANBA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1649G>A r.(?) p.(Arg550Gln) - VUS g.103578894C>T g.102657737C>T MANBA(NM_005908.3):c.1649G>A (p.R550Q, p.(Arg550Gln)) - MANBA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1846A>C r.(?) p.(Lys616Gln) - likely benign g.103571717T>G - MANBA(NM_005908.3):c.1846A>C (p.K616Q) - MANBA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1876C>T r.(?) p.(Gln626Ter) - VUS g.103561008G>A g.102639851G>A MANBA(NM_005908.3):c.1876C>T (p.Q626*) - MANBA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1908C>T r.(?) p.(Phe636=) - likely benign g.103560976G>A g.102639819G>A MANBA(NM_005908.3):c.1908C>T (p.F636=) - MANBA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1922G>A r.(?) p.(Arg641His) - VUS g.103560962C>T - MANBA(NM_005908.3):c.1922G>A (p.R641H) - MANBA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2102C>T r.(?) p.(Thr701Met) - benign g.103557077G>A g.102635920G>A MANBA(NM_005908.4):c.2102C>T (p.T701M) - MANBA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2136G>A r.(?) p.(Ser712=) - likely benign g.103557043C>T g.102635886C>T MANBA(NM_005908.3):c.2136G>A (p.S712=), MANBA(NM_005908.4):c.2136G>A (p.S712=) - MANBA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2136G>A r.(?) p.(Ser712=) - likely benign g.103557043C>T g.102635886C>T MANBA(NM_005908.3):c.2136G>A (p.S712=), MANBA(NM_005908.4):c.2136G>A (p.S712=) - MANBA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2158-8C>T r.(=) p.(=) - likely benign g.103556210G>A g.102635053G>A MANBA(NM_005908.3):c.2158-8C>T (p.(=)) - MANBA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.2158-2A>G r.spl? p.? - pathogenic g.103556204T>C g.102635047T>C MANBA(NM_005908.3):c.2158-2A>G - MANBA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2246T>A r.(?) p.(Leu749His) - likely benign g.103556114A>T g.102634957A>T MANBA(NM_005908.3):c.2246T>A (p.(Leu749His)) - MANBA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2246T>A r.(?) p.(Leu749His) - likely benign g.103556114A>T g.102634957A>T - - MANBA_000022 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.021 - 0 - Global Variome, with Curator vacancy
-?/. - c.2351C>G r.(?) p.(Pro784Arg) - likely benign g.103556009G>C - MANBA(NM_005908.4):c.2351C>G (p.P784R) - MANBA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2368T>C r.(?) p.(Leu790=) - benign g.103555992A>G g.102634835A>G MANBA(NM_005908.4):c.2368T>C (p.L790=) - MANBA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2379G>A r.(?) p.(Pro793=) - likely benign g.103555981C>T g.102634824C>T MANBA(NM_005908.4):c.2379G>A (p.P793=) - MANBA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2386G>A r.(?) p.(Ala796Thr) - VUS g.103555974C>T g.102634817C>T MANBA(NM_005908.4):c.2386G>A (p.A796T) - MANBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2416-10del r.(=) p.(=) - benign g.103553458del g.102632301del MANBA(NM_005908.3):c.2416-10delT - MANBA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2416-10dup r.(=) p.(=) - likely benign g.103553458dup g.102632301dup MANBA(NM_005908.3):c.2416-10dupT - MANBA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2471T>A r.(?) p.(Val824Asp) - VUS g.103553383A>T - MANBA(NM_005908.3):c.2471T>A (p.V824D) - MANBA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2473G>T r.(?) p.(Ala825Ser) - VUS g.103553381C>A g.102632224C>A - - MANBA_000003 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs182869272 Germline - 14/2794 individuals - 0 - Mohammed Faruq
?/. - c.2481del r.(?) p.(Phe827LeufsTer6) - VUS g.103553375del - MANBA(NM_005908.3):c.2481delT (p.F827Lfs*6) - MANBA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2482G>A r.(?) p.(Val828Ile) - benign g.103553372C>T g.102632215C>T MANBA(NM_005908.3):c.2482G>A (p.(Val828Ile)), MANBA(NM_005908.4):c.2482G>A (p.V828I) - MANBA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2482G>A r.(?) p.(Val828Ile) - likely benign g.103553372C>T g.102632215C>T MANBA(NM_005908.3):c.2482G>A (p.(Val828Ile)), MANBA(NM_005908.4):c.2482G>A (p.V828I) - MANBA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2482G>A r.(?) p.(Val828Ile) - likely benign g.103553372C>T g.102632215C>T - - MANBA_000002 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75826658 Germline - 17/2793 individuals - 0 - Mohammed Faruq
-?/. - c.*356G>A r.(=) p.(=) - likely benign g.103552858C>T g.102631701C>T - - MANBA_000032 203 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7672268 Germline - 203/2795 individuals - 0 - Mohammed Faruq
-?/. - c.*356G>A r.(=) p.(=) - likely benign g.103552858C>T g.102631701C>T - - MANBA_000032 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7672268 Germline - 7/2795 individuals - 0 - Mohammed Faruq
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