All variants in the B3GALNT2 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_152490.3 transcript reference sequence.

154 entries on 2 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     
+/. - c.48dup r.(?) p.(Leu17AlafsTer36) - pathogenic (recessive) g.235667505dup g.235504205dup c.48dupG - B3GALNT2_000030 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.51_73dup r.(?) p.(Ser25Cysfs*38) - pathogenic g.235667485_235667507dup g.235504185_235504207dup - - B3GALNT2_000002 - PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 1 c.51_73dup r.(?) p.(Ser25Cysfs*38) - pathogenic g.235667485_235667507dup g.235504185_235504207dup - - B3GALNT2_000002 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1 c.51_73dup r.(?) p.(Ser25Cysfs*38) - pathogenic g.235667485_235667507dup g.235504185_235504207dup - - B3GALNT2_000002 - PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.54C>T r.(?) p.(His18=) - likely benign g.235667499G>A g.235504199G>A B3GALNT2(NM_152490.4):c.54C>T (p.H18=) - TBCE_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.113-1484dup r.(=) p.(=) - likely benign g.235659635dup g.235496325dup B3GALNT2(NM_001277155.2):c.113-4dupT (p.?) - TBCE_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.113-1405G>A r.(=) p.(=) - likely benign g.235659543C>T g.235496233C>T B3GALNT2(NM_001277155.2):c.188G>A (p.(Gly63Asp)) - TBCE_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.152A>G r.(?) p.(Tyr51Cys) - benign g.235658099T>C g.235494789T>C B3GALNT2(NM_152490.4):c.152A>G (p.Y51C) - TBCE_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.152A>G r.(?) p.(Tyr51Cys) - benign g.235658099T>C g.235494789T>C - - TBCE_000062 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61742900 Germline - 5/2795 individuals - 0 - Mohammed Faruq
?/. - c.169G>A r.(?) p.(Val57Met) - VUS g.235658082C>T - B3GALNT2(NM_152490.5):c.169G>A (p.V57M) - TBCE_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 c.192dup r.(?) p.(Glu65Ter) - pathogenic g.235658059dup g.235494749dup 191_192insT - B3GALNT2_000010 - - - - Germline - - - 0 - Johan den Dunnen
+/. - c.261-2A>G r.spl p.? - pathogenic (recessive) g.235652575T>C g.235489270T>C - - B3GALNT2_000029 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.308_309del r.(?) p.(Val103Glyfs*10) - pathogenic g.235652527_235652528del g.235489222_235489223del - - B3GALNT2_000004 - PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 3 c.308_309del r.(?) p.(Val103Glyfs*10) - pathogenic g.235652527_235652528del g.235489222_235489223del - - B3GALNT2_000004 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 3 c.308_309del r.(?) p.(Val103Glyfs*10) - pathogenic g.235652527_235652528del g.235489222_235489223del - - B3GALNT2_000004 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 3 c.308_309del r.(?) p.(Val103Glyfs*10) - pathogenic g.235652527_235652528del g.235489222_235489223del - - B3GALNT2_000004 - PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.308_309del r.(?) p.(Val103Glyfs*10) - pathogenic g.235652527_235652528del g.235489222_235489223del - - B3GALNT2_000004 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs367543070 Germline - 9/2795 individuals - 0 - Mohammed Faruq
-/. - c.321A>G r.(?) p.(Glu107=) - benign g.235652513T>C g.235489208T>C B3GALNT2(NM_152490.4):c.321A>G (p.E107=) - B3GALNT2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.369T>C r.(?) p.(Asn123=) - likely benign g.235647824A>G g.235484508A>G B3GALNT2(NM_152490.4):c.369T>C (p.N123=) - TBCE_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.555+7C>A r.(=) p.(=) - benign g.235647631G>T g.235484315G>T B3GALNT2(NM_152490.4):c.555+7C>A - B3GALNT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.574C>T r.(?) p.(Arg192Cys) ACMG VUS g.235643447G>A g.235480131G>A - - B3GALNT2_000025 - PubMed: Hu 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.693C>T r.(?) p.(His231=) - likely benign g.235634233G>A g.235470919G>A B3GALNT2(NM_152490.4):c.693C>T (p.H231=) - B3GALNT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 6 c.726_727del r.(?) p.(Val243Glufs*2) - pathogenic g.235634199_235634200del g.235470885_235470886del - - B3GALNT2_000003 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 6 c.726_727del r.(?) p.(Val243Glufs*2) - pathogenic g.235634199_235634200del g.235470885_235470886del - - B3GALNT2_000003 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 6 c.740G>A r.(?) p.(Gly247Glu) - pathogenic g.235634186C>T g.235470872C>T - - B3GALNT2_000001 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 6 c.740G>A r.(?) p.(Gly247Glu) - pathogenic g.235634186C>T g.235470872C>T - - B3GALNT2_000001 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Glu) - likely pathogenic g.235634186C>T g.235470872C>T - - B3GALNT2_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs367543072 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 6 c.755T>G r.(?) p.(Val252Gly) - pathogenic g.235634171A>C g.235470857A>C - - B3GALNT2_000009 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 6 c.755T>G r.(?) p.(Val252Gly) - pathogenic g.235634171A>C g.235470857A>C - - B3GALNT2_000009 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 7 c.802G>A r.(?) p.(Val268Met) - pathogenic g.235628992C>T g.235465675C>T - - B3GALNT2_000005 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 7 c.802G>A r.(?) p.(Val268Met) - pathogenic g.235628992C>T g.235465675C>T - - B3GALNT2_000005 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 7 c.802G>A r.(?) p.(Val268Met) - pathogenic g.235628992C>T g.235465675C>T - - B3GALNT2_000005 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 7 c.824_825dup r.(?) p.(Ile276Leufs*26) - pathogenic g.235628971_235628972dup g.235465654_235465655dup 822_823dup - B3GALNT2_000008 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 7 c.824_825dup r.(?) p.(Ile276Leufs*26) - pathogenic g.235628971_235628972dup g.235465654_235465655dup 822_823dup - B3GALNT2_000008 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+?/. - c.824_825dup r.(?) p.(Ile276LeufsTer26) - likely pathogenic g.235628971_235628972dup g.235465654_235465655dup B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26) - TBCE_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.824_825dup r.(?) p.(Ile276LeufsTer26) - pathogenic g.235628971_235628972dup g.235465654_235465655dup B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26) - TBCE_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.824_825dup r.(?) p.(Ile276LeufsTer26) - pathogenic g.235628971_235628972dup - B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26) - B3GALNT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 8 c.875G>C r.(?) p.(Arg292Pro) - pathogenic g.235622061C>G g.235458753C>G - - B3GALNT2_000007 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 8 c.875G>C r.(?) p.(Arg292Pro) - pathogenic g.235622061C>G g.235458753C>G - - B3GALNT2_000007 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
?/. 8 c.979G>A r.(?) p.(Asp327Asn) - VUS g.235621957C>T g.235458649C>T 979G/A - B3GALNT2_000011 - - - - Germline ? - - 0 - Johan den Dunnen
+?/. - c.979G>A r.(?) p.(Asp327Asn) ACMG likely pathogenic (recessive) g.235621957C>T g.235458649C>T - - B3GALNT2_000011 - PubMed: Hu 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.979G>A r.(?) p.(Asp327Asn) - pathogenic (recessive) g.235621957C>T g.235458649C>T - - B3GALNT2_000011 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1092A>G r.(?) p.(Glu364=) - likely benign g.235618930T>C g.235455618T>C B3GALNT2(NM_152490.4):c.1092A>G (p.E364=) - TBCE_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1178G>A r.(?) p.(Arg393Gln) - VUS g.235617601C>T g.235454289C>T - - B3GALNT2_000023 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140708018 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. - c.1183G>A r.(?) p.(Gly395Arg) - pathogenic (recessive) g.235617596C>T g.235454284C>T - - B3GALNT2_000028 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1307A>G r.(?) p.(Tyr436Cys) - pathogenic (recessive) g.235617472T>C g.235454160T>C - - B3GALNT2_000027 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1363T>C r.(?) p.(Tyr455His) - VUS g.235616407A>G g.235453095A>G B3GALNT2(NM_152490.2):c.1363T>C (p.(Tyr455His)) - B3GALNT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.1421_1423del r.(?) p.(Pro474del) - pathogenic (recessive) g.235613604_235613606del g.235450289_235450291del c.1421_1423delCTC - B3GALNT2_000026 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.1423C>T r.(?) p.(Gln475*) - pathogenic g.235613601G>A g.235450286G>A - - B3GALNT2_000006 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 12 c.1423C>T r.(?) p.(Gln475*) - pathogenic g.235613601G>A g.235450286G>A - - B3GALNT2_000006 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 12 c.1423C>T r.(?) p.(Gln475*) - pathogenic g.235613601G>A g.235450286G>A - - B3GALNT2_000006 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. - c.1423C>T r.(?) p.(Gln475*) - pathogenic g.235613601G>A g.235450286G>A - - B3GALNT2_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs367543077 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.*1448C>T r.(=) p.(=) - VUS g.235612073G>A g.235448758G>A TBCE(NM_001079515.1):c.1580G>A (p.(Trp527Ter)) - B3GALNT2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*1451C>T r.(=) p.(=) - VUS g.235612070G>A g.235448755G>A TBCE(NM_001287801.2):c.1730G>A (p.R577Q), TBCE(NM_003193.5):c.1577G>A (p.R526Q) - TBCE_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1451C>T r.(=) p.(=) - likely benign g.235612070G>A g.235448755G>A TBCE(NM_001287801.2):c.1730G>A (p.R577Q), TBCE(NM_003193.5):c.1577G>A (p.R526Q) - TBCE_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*1451C>T r.(=) p.(=) - likely benign g.235612070G>A - TBCE(NM_001287801.2):c.1730G>A (p.R577Q), TBCE(NM_003193.5):c.1577G>A (p.R526Q) - TBCE_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*1451C>T r.(=) p.(=) - VUS g.235612070G>A - TBCE(NM_001287801.2):c.1730G>A (p.R577Q), TBCE(NM_003193.5):c.1577G>A (p.R526Q) - TBCE_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*1531C>T r.(=) p.(=) - likely benign g.235611990G>A g.235448675G>A TBCE(NM_001079515.2):c.1497G>A (p.P499=) - TBCE_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*1740_*1745dup r.(=) p.(=) - likely benign g.235611785_235611790dup - TBCE(NM_001287801.2):c.1644+27_1644+32dupCAAAGT - B3GALNT2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1792G>T r.(=) p.(=) - likely benign g.235611729C>A g.235448414C>A TBCE(NM_001079515.2):c.1465C>A (p.L489I), TBCE(NM_001287801.2):c.1618C>A (p.L540I) - B3GALNT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.*1792G>T r.(=) p.(=) - VUS g.235611729C>A g.235448414C>A TBCE(NM_001079515.2):c.1465C>A (p.L489I), TBCE(NM_001287801.2):c.1618C>A (p.L540I) - B3GALNT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1871A>G r.(=) p.(=) - likely benign g.235611650T>C g.235448335T>C TBCE(NM_001079515.2):c.1400-14T>C - B3GALNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*7118dup r.(?) p.(=) - benign g.235606407dup g.235443092dup TBCE(NM_001079515.2):c.1399+181dupC - TBCE_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*7251C>A r.(=) p.(=) - benign g.235606270G>T g.235442955G>T TBCE(NM_001079515.2):c.1399+44G>T - TBCE_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*7283G>A r.(=) p.(=) - benign g.235606238C>T g.235442923C>T TBCE(NM_001079515.2):c.1399+12C>T - TBCE_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*7454A>T r.(=) p.(=) - benign g.235606067T>A g.235442752T>A TBCE(NM_001079515.2):c.1340-100T>A - TBCE_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*8317T>A r.(=) p.(=) - likely benign g.235605204A>T g.235441889A>T TBCE(NM_001079515.2):c.1339+7A>T - TBCE_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*11291G>C r.(=) p.(=) - likely benign g.235602230C>G g.235438915C>G TBCE(NM_001287801.2):c.1416C>G (p.L472=), TBCE(NM_003193.5):c.1263C>G (p.L421=) - TBCE_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*11291G>C r.(=) p.(=) - likely benign g.235602230C>G - TBCE(NM_001287801.2):c.1416C>G (p.L472=), TBCE(NM_003193.5):c.1263C>G (p.L421=) - TBCE_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*11328T>C r.(=) p.(=) - benign g.235602193A>G g.235438878A>G TBCE(NM_001079515.1):c.1226A>G (p.(Glu409Gly)), TBCE(NM_001079515.2):c.1226A>G (p.E409G), TBCE(NM_001287801.2):c.1379A>G (p.E460G) - TBCE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*11328T>C r.(=) p.(=) - benign g.235602193A>G g.235438878A>G TBCE(NM_001079515.1):c.1226A>G (p.(Glu409Gly)), TBCE(NM_001079515.2):c.1226A>G (p.E409G), TBCE(NM_001287801.2):c.1379A>G (p.E460G) - TBCE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*11328T>C r.(=) p.(=) - likely benign g.235602193A>G - TBCE(NM_001079515.1):c.1226A>G (p.(Glu409Gly)), TBCE(NM_001079515.2):c.1226A>G (p.E409G), TBCE(NM_001287801.2):c.1379A>G (p.E460G) - TBCE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*11406A>G r.(=) p.(=) - VUS g.235602115T>C - TBCE(NM_003193.5):c.1148T>C (p.L383P) - TBCE_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*12610G>C r.(=) p.(=) - benign g.235600911C>G g.235437596C>G TBCE(NM_001079515.2):c.1116+122C>G - TBCE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*12708T>G r.(=) p.(=) - benign g.235600813A>C g.235437498A>C TBCE(NM_001079515.2):c.1116+24A>C - TBCE_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*12747C>T r.(=) p.(=) - likely benign g.235600774G>A - TBCE(NM_001287801.2):c.1254G>A (p.T418=) - TBCE_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*12748G>A r.(=) p.(=) - likely benign g.235600773C>T g.235437458C>T TBCE(NM_001079515.1):c.1100C>T (p.(Thr367Met)) - TBCE_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*12770C>T r.(=) p.(=) - VUS g.235600751G>A - TBCE(NM_001079515.1):c.1078G>A (p.(Ala360Thr)) - TBCE_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*12780T>C r.(=) p.(=) - benign g.235600741A>G g.235437426A>G TBCE(NM_001079515.2):c.1068A>G (p.L356=), TBCE(NM_001287801.2):c.1221A>G (p.L407=) - TBCE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*12780T>C r.(=) p.(=) - benign g.235600741A>G g.235437426A>G TBCE(NM_001079515.2):c.1068A>G (p.L356=), TBCE(NM_001287801.2):c.1221A>G (p.L407=) - TBCE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*12812T>C r.(=) p.(=) - VUS g.235600709A>G - TBCE(NM_001287801.2):c.1189A>G (p.K397E) - TBCE_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*12850C>G r.(=) p.(=) - benign g.235600671G>C g.235437356G>C TBCE(NM_001079515.2):c.998G>C (p.S333T) - TBCE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*12858C>A r.(=) p.(=) - likely benign g.235600663G>T g.235437348G>T TBCE(NM_001079515.1):c.990G>T (p.(Lys330Asn)) - TBCE_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*12931C>T r.(=) p.(=) - benign g.235600590G>A g.235437275G>A TBCE(NM_001079515.2):c.964-47G>A - TBCE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*13472T>G r.(=) p.(=) - benign g.235600049A>C g.235436734A>C TBCE(NM_001079515.2):c.963+126A>C - TBCE_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.*13616G>A r.(=) p.(=) - VUS g.235599905C>T - TBCE(NM_001287801.2):c.1098C>T (p.N366=) - TBCE_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*13644A>G r.(=) p.(=) - VUS g.235599877T>C g.235436562T>C TBCE(NM_001079515.1):c.917T>C (p.(Phe306Ser)), TBCE(NM_001287801.2):c.1070T>C (p.F357S) - TBCE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*13644A>G r.(=) p.(=) - VUS g.235599877T>C - TBCE(NM_001079515.1):c.917T>C (p.(Phe306Ser)), TBCE(NM_001287801.2):c.1070T>C (p.F357S) - TBCE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*13646C>G r.(=) p.(=) - VUS g.235599875G>C - TBCE(NM_001287801.2):c.1068G>C (p.M356I) - TBCE_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*14634C>T r.(=) p.(=) - benign g.235598887G>A g.235435572G>A TBCE(NM_001079515.2):c.738-173G>A - TBCE_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*15915G>A r.(=) p.(=) - likely benign g.235597606C>T g.235434291C>T TBCE(NM_001079515.2):c.737+11C>T - TBCE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*15996G>A r.(=) p.(=) - likely benign g.235597525C>T g.235434210C>T TBCE(NM_001079515.2):c.667C>T (p.R223W) - TBCE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*16121C>T r.(=) p.(=) - benign g.235597400G>A g.235434085G>A TBCE(NM_001079515.2):c.661-119G>A - TBCE_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*16138_*16139insAT r.(=) p.(=) - benign g.235597383_235597384insTA g.235434068_235434069insTA TBCE(NM_001079515.2):c.661-137_661-136insAT - TBCE_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*17094G>A r.(=) p.(=) - likely benign g.235596427C>T - TBCE(NM_001287801.2):c.813+14C>T - TBCE_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*17198G>A r.(=) p.(=) - benign g.235596323C>T g.235433008C>T TBCE(NM_001079515.2):c.661-1196C>T, TBCE(NM_001287801.2):c.723C>T (p.F241=) - TBCE_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*17198G>A r.(=) p.(=) - benign g.235596323C>T g.235433008C>T TBCE(NM_001079515.2):c.661-1196C>T, TBCE(NM_001287801.2):c.723C>T (p.F241=) - TBCE_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*17224C>T r.(=) p.(=) - likely benign g.235596297G>A - TBCE(NM_001287801.1):c.697G>A (p.D233N) - TBCE_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*17276del r.(?) p.(=) - benign g.235596256del g.235432941del TBCE(NM_001287801.2):c.661-5delA - TBCE_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*17276dup r.(?) p.(=) - benign g.235596256dup g.235432941dup TBCE(NM_001287801.2):c.661-5dupA - TBCE_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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