All variants in the MAB21L1 gene

Information The variants shown are described using the NM_005584.4 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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.-189064A>C r.(?) p.(=) - likely benign g.36239339T>G - NBEA(NM_015678.4):c.8401+16T>G - NBEA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-188997C>A r.(?) p.(=) - likely benign g.36239272G>T g.35665135G>T NBEA(NM_015678.4):c.8350G>T (p.V2784F) - NBEA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-188997C>A r.(?) p.(=) - likely benign g.36239272G>T g.35665135G>T NBEA(NM_015678.4):c.8350G>T (p.V2784F) - NBEA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-178823A>T r.(?) p.(=) - likely benign g.36229098T>A - NBEA(NM_015678.4):c.8079T>A (p.L2693=) - NBEA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-170207G>A r.(?) p.(=) - likely benign g.36220482C>T g.35646345C>T NBEA(NM_015678.4):c.7704C>T (p.H2568=) - NBEA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-170207G>A r.(?) p.(=) - likely benign g.36220482C>T - NBEA(NM_015678.4):c.7704C>T (p.H2568=) - NBEA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-170186C>T r.(?) p.(=) - likely benign g.36220461G>A g.35646324G>A NBEA(NM_015678.4):c.7683G>A (p.P2561=) - NBEA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-170186C>T r.(?) p.(=) - likely benign g.36220461G>A - NBEA(NM_015678.4):c.7683G>A (p.P2561=) - NBEA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-152048G>T r.(?) p.(=) - likely benign g.36202323C>A - NBEA(NM_015678.4):c.7555C>A (p.H2519N) - NBEA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-107763T>C r.(?) p.(=) - benign g.36158038A>G g.35583901A>G NBEA(NM_015678.4):c.7039A>G (p.I2347V) - NBEA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-90873T>G r.(?) p.(=) - likely benign g.36141148A>C - NBEA(NM_015678.4):c.7029A>C (p.=) - NBEA_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.-78871G>A r.(?) p.(=) - likely pathogenic g.36129146C>T g.35555009C>T - - NBEA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.-74390G>A r.(?) p.(=) - likely pathogenic g.36124665C>T - NBEA(NM_015678.4):c.6637C>T (p.R2213*) - NBEA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-74383G>A r.(?) p.(=) - likely benign g.36124658C>T - NBEA(NM_015678.4):c.6630C>T (p.S2210=) - NBEA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-74356C>T r.(?) p.(=) - likely benign g.36124631G>A g.35550494G>A NBEA(NM_015678.4):c.6603G>A (p.E2201=) - NBEA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. _1 c.-68T>C r.(=) p.(=) - VUS g.36050343A>G g.35476206A>G - - MAB21L1_000003 - PubMed: Seese 2021, Journal: Seese 2021 - - Unknown - - sseese 0 - Sarah Seese
?/. - c.152G>T r.(?) p.(Arg51Leu) - VUS g.36050124C>A g.35475987C>A - - MAB21L1_000001 - PubMed: Seese 2021, Journal: Seese 2021 - - Germline - - sseese 0 - Sarah Seese
?/. - c.152G>T r.(?) p.(Arg51Leu) - VUS g.36050124C>A - - - MAB21L1_000001 - PubMed: Seese 2021, Journal: Seese 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.184C>T r.(?) p.(Arg62Cys) - VUS g.36050092G>A g.35475955G>A - - MAB21L1_000002 - PubMed: Seese 2021, Journal: Seese 2021 - - Unknown - - sseese 0 - Sarah Seese
+/. - c.279_286del r.(?) p.(Pro95Argfs*47) - pathogenic (recessive) g.36049990_36049997del g.35475853_35475860del 279_286delACTGCCCG - MAB21L1_000009 - PubMed: Rad 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.658G>C r.(?) p.(Gly220Arg) - VUS g.36049618C>G g.35475481C>G - - MAB21L1_000005 - PubMed: Seese 2021, Journal: Seese 2021 - - Germline - - sseese 0 - Sarah Seese
+/. - c.698A>C r.(?) p.(Gln233Pro) - pathogenic (recessive) g.36049578T>G - - - MAB21L1_000010 - PubMed: Rad 2019 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.735dup r.(?) p.(Cys246Leufs*18) - likely pathogenic (recessive) g.36049541dup - 735dupG - MAB21L1_000006 - PubMed: Bruel 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.840C>G r.(?) p.(Tyr280*) - pathogenic (recessive) g.36049436G>C - - - MAB21L1_000007 - PubMed: Rad 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.841del r.(?) p.(Glu281Serfs*20) - pathogenic (recessive) g.36049435del - 841delG - MAB21L1_000011 - PubMed: Rad 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.859del r.(?) p.(Arg287Glufs*14) - pathogenic (recessive) g.36049417del - 859delC - MAB21L1_000008 - PubMed: Rad 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.*529A>G r.(=) p.(=) - VUS g.36048667T>C g.35474530T>C - - MAB21L1_000004 - PubMed: Seese 2021, Journal: Seese 2021 - - Germline - - sseese 0 - Sarah Seese
+?/. - c.*22956del r.(?) p.(=) - likely pathogenic g.36026240del g.35452103del - - NBEA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.*42732G>A r.(=) p.(=) - likely pathogenic g.36006464C>T g.35432327C>T - - NBEA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*42782T>C r.(=) p.(=) - likely benign g.36006414A>G - NBEA(NM_015678.4):c.6188A>G (p.H2063R) - NBEA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*42787T>C r.(=) p.(=) - likely benign g.36006409A>G - NBEA(NM_015678.4):c.6183A>G (p.Q2061=) - NBEA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*122718G>A r.(=) p.(=) - likely benign g.35926478C>T - NBEA(NM_015678.4):c.6179+18C>T - NBEA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*125864T>C r.(=) p.(=) - likely benign g.35923332A>G g.35349195A>G NBEA(NM_015678.4):c.5991A>G (p.V1997=) - NBEA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*125870C>T r.(=) p.(=) - likely benign g.35923326G>A g.35349189G>A NBEA(NM_015678.4):c.5985G>A (p.E1995=) - NBEA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*266375G>A r.(=) p.(=) - likely benign g.35782821C>T g.35208684C>T NBEA(NM_015678.4):c.5367-16C>T - NBEA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*278740A>G r.(=) p.(=) - likely benign g.35770456T>C - NBEA(NM_015678.4):c.5366+17T>C - NBEA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*278790G>C r.(=) p.(=) - likely benign g.35770406C>G - NBEA(NM_015678.4):c.5333C>G (p.A1778G) - NBEA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.*278862G>A r.(=) p.(=) - likely pathogenic g.35770334C>T - NBEA(NM_015678.4):c.5261C>T (p.P1754L) - NBEA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*278981_*278982dup r.(=) p.(=) - pathogenic g.35770216_35770217dup - NBEA(NM_015678.4):c.5143_5144dupCA (p.Q1715Hfs*5) - NBEA_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*279127C>T r.(=) p.(=) - likely benign g.35770069G>A g.35195932G>A NBEA(NM_015678.4):c.4996G>A (p.V1666I) - NBEA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*279135T>C r.(=) p.(=) - likely benign g.35770061A>G g.35195924A>G NBEA(NM_015678.4):c.4988A>G (p.D1663G) - NBEA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*292530C>A r.(=) p.(=) - VUS g.35756666G>T - - - NBEA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*297987T>C r.(=) p.(=) - VUS g.35751209A>G g.35177072A>G NBEA(NM_015678.4):c.4631A>G (p.N1544S) - NBEA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*301500C>G r.(=) p.(=) - likely benign g.35747696G>C - NBEA(NM_015678.4):c.4519G>C (p.V1507L) - NBEA_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*301598A>T r.(=) p.(=) - VUS g.35747598T>A - NBEA(NM_015678.4):c.4424-3T>A - NBEA_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*303720C>A r.(=) p.(=) - VUS g.35745476G>T - NBEA(NM_015678.4):c.4310G>T (p.R1437L) - NBEA_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.*303786G>A r.(=) p.(=) - likely benign g.35745410C>T - NBEA(NM_015678.4):c.4244C>T (p.T1415M) - NBEA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*310571G>A r.(=) p.(=) - likely benign g.35738625C>T - NBEA(NM_015678.4):c.4212C>T (p.L1404=) - NBEA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*313127T>C r.(=) p.(=) - likely benign g.35736069A>G - NBEA(NM_015678.4):c.4044A>G (p.L1348=) - NBEA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*313177G>A r.(=) p.(=) - VUS g.35736019C>T g.35161882C>T - - NBEA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*313283T>C r.(=) p.(=) - likely benign g.35735913A>G - NBEA(NM_015678.4):c.3888A>G (p.Q1296=) - NBEA_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*315055C>T r.(=) p.(=) - likely benign g.35734141G>A - NBEA(NM_015678.4):c.3833G>A (p.R1278Q) - NBEA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*315055C>T r.(=) p.(=) - likely benign g.35734141G>A - NBEA(NM_015678.4):c.3833G>A (p.R1278Q) - NBEA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*315055C>T r.(=) p.(=) - likely benign g.35734141G>A - NBEA(NM_015678.4):c.3833G>A (p.R1278Q) - NBEA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.*315056G>A r.(=) p.(=) - likely pathogenic g.35734140C>T g.35160003C>T - - NBEA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*315118G>A r.(=) p.(=) - VUS g.35734078C>T - NBEA(NM_015678.4):c.3770C>T (p.A1257V) - NBEA_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*315214_*315215del r.(=) p.(=) - pathogenic g.35733981_35733982del g.35159844_35159845del NBEA(NM_015678.4):c.3673_3674delTT (p.L1225Sfs*5) - NBEA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*315308C>T r.(=) p.(=) - likely benign g.35733888G>A g.35159751G>A NBEA(NM_015678.4):c.3580G>A (p.(Val1194Ile)) - NBEA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*315647A>T r.(=) p.(=) - likely benign g.35733549T>A - NBEA(NM_015678.4):c.3241T>A (p.L1081I) - NBEA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*315655G>A r.(=) p.(=) - likely benign g.35733541C>T - NBEA(NM_015678.4):c.3233C>T (p.P1078L) - NBEA_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.*315807del r.(?) p.(=) - pathogenic g.35733389del - - - NBEA_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*315886C>T r.(=) p.(=) - likely benign g.35733310G>A - NBEA(NM_015678.4):c.3002G>A (p.R1001Q) - NBEA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*317851T>C r.(=) p.(=) - VUS g.35731345A>G - NBEA(NM_015678.4):c.2782A>G (p.I928V) - NBEA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*318886A>G r.(=) p.(=) - likely benign g.35730310T>C g.35156173T>C NBEA(NM_015678.4):c.2618T>C (p.I873T) - NBEA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*318920T>A r.(=) p.(=) - likely benign g.35730276A>T g.35156139A>T NBEA(NM_015678.4):c.2584A>T (p.M862L) - NBEA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*332721T>G r.(=) p.(=) - likely benign g.35716475A>C - NBEA(NM_015678.4):c.2406A>C (p.T802=) - NBEA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*351504G>A r.(=) p.(=) - likely benign g.35697692C>T - NBEA(NM_015678.4):c.2317C>T (p.L773=) - NBEA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*365748T>C r.(=) p.(=) - VUS g.35683448A>G - NBEA(NM_015678.4):c.1702A>G (p.R568G) - NBEA_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*429720T>A r.(=) p.(=) - likely benign g.35619476A>T g.35045339A>T - - NBEA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*430003A>G r.(=) p.(=) - likely benign g.35619193T>C g.35045056T>C NBEA(NM_015678.4):c.627+9T>C - NBEA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*531957C>T r.(=) p.(=) - likely benign g.35517239G>A g.34943102G>A NBEA(NM_015678.4):c.282G>A (p.T94=) - NBEA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*531957C>T r.(=) p.(=) - likely benign g.35517239G>A g.34943102G>A NBEA(NM_015678.4):c.282G>A (p.T94=) - NBEA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*531957C>T r.(=) p.(=) - likely benign g.35517239G>A - NBEA(NM_015678.4):c.282G>A (p.T94=) - NBEA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*532071G>A r.(=) p.(=) - likely benign g.35517125C>T g.34942988C>T NBEA(NM_015678.4):c.168C>T (p.L56=) - NBEA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*532166C>T r.(=) p.(=) - likely benign g.35517030G>A - NBEA(NM_015678.4):c.73G>A (p.A25T) - NBEA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*532172C>G r.(=) p.(=) - VUS g.35517024G>C g.34942887G>C NBEA(NM_015678.4):c.67G>C (p.G23R) - NBEA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*532191G>C r.(=) p.(=) - likely benign g.35517005C>G g.34942868C>G NBEA(NM_015678.4):c.48C>G (p.P16=) - NBEA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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