Full data view for gene LMNB1

Information The variants shown are described using the NM_005573.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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./. - c.-2284677_*19545329dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-109916_*172112dup r.0? p.0? Parent #1 - pathogenic g.126003285_126344068dup - 126031184_126371969dup - MARCH3_000002 340,785 bp duplication incl. AK093561 and MARCH3 (ex2-5); not in ˜400 control chromosomes; increased expression PubMed: Padiath 2006 - - Germline yes - - - - DNA PCR, SEQ - - ADLD - - 2-generation family, 3 affecteds - no United States - - - - - 30 LOVD
./. - c.-16323_*94376dup r.0? p.0? Parent #1 - pathogenic g.126096878_126266332dup - 126124777_126294232dup - MARCH3_000001 linkage analysis; 169,455 bp duplication incl. AK093561; founder duplication: RNA brain expression level unchanged PubMed: Padiath 2006 - - Germline yes - - - - DNA PCR, SEQ, Southern, PCRq - - ADLD - - 4-generation family, 16 affecteds - no United States Irish - - - - 16 LOVD
./. - c.-16323_*94376dup r.0? p.0? Parent #1 - pathogenic g.126096878_126266332dup - 126124777_126294232dup - MARCH3_000001 linkage analysis; 169,455 bp duplication incl. AK093561; founder duplication: RNA brain expression level unchanged PubMed: Padiath 2006 - - Germline yes - - - - DNA PCR, SEQ, Southern, PCRq - - ADLD - - 5-generation family, 30 affecteds - no United States Irish - - - - 30 LOVD
+/? 1_11 c.(?_-886)_(*756_?)dup r.? p.? Unknown - pathogenic g.126023423_126301352dup - g.126,023,423_126,301,352dup - LMNB1_000001 duplication is predicted to caused increase expression of LMNB1 gene PubMed: Giorgio 2013 - - Germline yes - - - - DNA arrayCGH - - ADLD - Giorgio et al., 2013 Human Mutation - - no - - - - - - 1 Quasar Padiath
+/? 1_11 c.(?_-886)_(*756_?)dup r.? p.? Unknown - pathogenic g.126072067_126275499dup - g.126,072,067_126,275,499dup - LMNB1_000001 duplication is predicted to result in increased expression of LMNB1 RNA and protein PubMed: Giorgio 2013 - - Germline yes - - - - DNA arrayCGH - - ADLD - - - - no - - - - - - 1 Quasar Padiath
+/? 1_11 c.(?_-886)_(*756_?)dup r.= p.= Parent #1 - pathogenic g.(?_126112315)_(126172712_?)dup - whole gene duplication - LMNB1_000003 150-250,000 bp duplication incl. AK093561 and MARCH3 (ex4-5); increased expression PubMed: Padiath 2006 - - Germline yes - - - - DNA SEQ - - ADLD - - 3-generation family, 7 affecteds and 1 asymptomatic carrier (young) - no United States - - - - - 7 LOVD
-?/. - c.29G>T r.(?) p.(Arg10Leu) Unknown - likely benign g.126113229G>T g.126777537G>T LMNB1(NM_005573.3):c.29G>T (p.R10L) - LMNB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60G>A r.(?) p.(Thr20=) Unknown - likely benign g.126113260G>A g.126777568G>A LMNB1(NM_005573.3):c.60G>A (p.T20=), LMNB1(NM_005573.4):c.60G>A (p.(Thr20=)) - LMNB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60G>A r.(?) p.(Thr20=) Unknown - likely benign g.126113260G>A - LMNB1(NM_005573.3):c.60G>A (p.T20=), LMNB1(NM_005573.4):c.60G>A (p.(Thr20=)) - LMNB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.97A>G r.(?) p.(Lys33Glu) Unknown - pathogenic (dominant) g.126113297A>G g.126777605A>G - - LMNB1_000024 - PubMed: Cristofoli 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat3 PubMed: Cristofoli 2020 - F no Italy white - - - - 1 Johan den Dunnen
+/. 1 c.124C>T r.(?) p.(Arg42Trp) Unknown - pathogenic (dominant) g.126113324C>T g.126777632C>T - - LMNB1_000025 - PubMed: Cristofoli 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat4 PubMed: Cristofoli 2020 - F - United States white - - - - 1 Johan den Dunnen
+?/. - c.125G>C r.(?) p.(Arg42Pro) Unknown - likely pathogenic g.126113325G>C - - - LMNB1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.154A>G r.(?) p.(Ser52Gly) Unknown - VUS g.126113354A>G - LMNB1(NM_005573.3):c.154A>G (p.(Ser52Gly)) - LMNB1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157C>T r.(?) p.(=) Unknown - likely benign g.126113357C>T - LMNB1(NM_005573.3):c.157C>T (p.(Leu53=)) - LMNB1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.164C>T r.(?) p.(Thr55Met) Unknown - VUS g.126113364C>T g.126777672C>T LMNB1(NM_005573.3):c.164C>T (p.T55M) - LMNB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165G>A r.(?) p.(Thr55=) Unknown - benign g.126113365G>A g.126777673G>A LMNB1(NM_005573.3):c.165G>A (p.T55=) - LMNB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279C>T r.(?) p.(Leu93=) Unknown - likely benign g.126113479C>T g.126777787C>T LMNB1(NM_005573.3):c.279C>T (p.L93=) - LMNB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.311_319del r.(311_319del) p.(Gln104_Glu106del) Unknown - likely pathogenic g.126113511_126113519del g.126777819_126777827del - - LMNB1_000053 - - - - De novo - - - - - DNA SEQ - - microcephaly patient - - M - China - - - - - 1 Meiling Liu
-?/. - c.359+8256_359+8257insGT r.(=) p.(=) Unknown - likely benign g.126121815_126121816insGT - LMNB1(NM_005573.4):c.359+8256_359+8257insGT - LMNB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360-19C>T r.(=) p.(=) Unknown - likely benign g.126140449C>T g.126804757C>T LMNB1(NM_001198557.1):c.-271-19C>T (p.(=)), LMNB1(NM_005573.4):c.360-19C>T - LMNB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.360-19C>T r.(=) p.(=) Unknown - benign g.126140449C>T - LMNB1(NM_001198557.1):c.-271-19C>T (p.(=)), LMNB1(NM_005573.4):c.360-19C>T - LMNB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360-8T>C r.(=) p.(=) Unknown - likely benign g.126140460T>C - LMNB1(NM_005573.4):c.360-8T>C - LMNB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360-3C>T r.spl? p.? Unknown - likely benign g.126140465C>T - LMNB1(NM_005573.4):c.360-3C>T - LMNB1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.414T>C r.(?) p.(Tyr138=) Unknown - benign g.126140522T>C g.126804830T>C LMNB1(NM_005573.4):c.414T>C (p.Y138=) - LMNB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.414T>C r.(?) p.(Tyr138=) Unknown - benign g.126140522T>C - LMNB1(NM_005573.4):c.414T>C (p.Y138=) - LMNB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.432G>A r.(?) p.(Ser144=) Unknown - benign g.126140540G>A g.126804848G>A LMNB1(NM_001198557.1):c.-199G>A (p.(=)), LMNB1(NM_005573.4):c.432G>A (p.S144=) - LMNB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432G>A r.(?) p.(Ser144=) Unknown - likely benign g.126140540G>A g.126804848G>A LMNB1(NM_001198557.1):c.-199G>A (p.(=)), LMNB1(NM_005573.4):c.432G>A (p.S144=) - LMNB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.432G>A r.(?) p.(Ser144=) Unknown - benign g.126140540G>A - LMNB1(NM_001198557.1):c.-199G>A (p.(=)), LMNB1(NM_005573.4):c.432G>A (p.S144=) - LMNB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.455C>G r.(?) p.(Ala152Gly) Unknown - pathogenic (dominant) g.126140563C>G g.126804871C>G - - LMNB1_000026 - PubMed: Cristofoli 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Cristofoli 2020 - M no Belgium white - - - - 1 Johan den Dunnen
?/. - c.457C>G r.(?) p.(Leu153Val) Unknown - VUS g.126140565C>G - LMNB1(NM_005573.4):c.457C>G (p.(Leu153Val)) - LMNB1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478G>C r.(?) p.(Glu160Gln) Unknown - VUS g.126140586G>C - LMNB1(NM_005573.4):c.478G>C (p.(Glu160Gln)) - LMNB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622C>T r.(?) p.(Arg208Cys) Unknown - VUS g.126141368C>T - LMNB1(NM_005573.4):c.622C>T (p.(Arg208Cys)) - LMNB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.642+4_642+7dup r.spl? p.? Unknown - likely benign g.126141392_126141395dup g.126805700_126805703dup LMNB1(NM_005573.3):c.642+2_642+5dupTAAC - LMNB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.652G>A r.(?) p.(Glu218Lys) Unknown - VUS g.126145881G>A - LMNB1(NM_005573.3):c.652G>A (p.(Glu218Lys)) - LMNB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676C>T r.(?) p.(Arg226Cys) Unknown - VUS g.126145905C>T g.126810213C>T LMNB1(NM_001198557.1):c.46C>T (p.(Arg16Cys)), LMNB1(NM_005573.3):c.676C>T (p.R226C) - LMNB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676C>T r.(?) p.(Arg226Cys) Unknown - VUS g.126145905C>T - LMNB1(NM_001198557.1):c.46C>T (p.(Arg16Cys)), LMNB1(NM_005573.3):c.676C>T (p.R226C) - LMNB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734C>T r.(?) p.(Ala245Val) Unknown - VUS g.126145963C>T - LMNB1(NM_005573.4):c.734C>T (p.(Ala245Val)) - LMNB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.805C>T r.(?) p.(His269Tyr) Unknown - likely benign g.126146034C>T - LMNB1(NM_005573.3):c.805C>T (p.(His269Tyr)) - LMNB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.852T>C r.(?) p.(Ser284=) Unknown - likely benign g.126147503T>C g.126811811T>C LMNB1(NM_001198557.1):c.222T>C (p.(Ser74=)) - LMNB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.896G>T r.(?) p.(Arg299Ile) Unknown - VUS g.126147547G>T - LMNB1(NM_005573.3):c.896G>T (p.R299I) - LMNB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.939+1G>A r.spl p.? Paternal (confirmed) - pathogenic (dominant) g.126147591G>A g.126811899G>A - - LMNB1_000027 father 0.15 mosaic for variant PubMed: Cristofoli 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat5 PubMed: Cristofoli 2020 family, 3 affected (F, 2M), father mosaic F - Spain Arab - - - - 3 Johan den Dunnen
+/. 5i c.939+1G>A r.spl p.? Paternal (confirmed) - pathogenic (dominant) g.126147591G>A g.126811899G>A - - LMNB1_000027 father 0.15 mosaic for variant PubMed: Cristofoli 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat6 PubMed: Cristofoli 2020 brother M - Spain Arab - - - - 1 Johan den Dunnen
+/. 5i c.939+1G>A r.spl p.? Paternal (confirmed) - pathogenic (dominant) g.126147591G>A g.126811899G>A - - LMNB1_000027 father 0.15 mosaic for variant PubMed: Cristofoli 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat7 PubMed: Cristofoli 2020 brother M - Spain Arab - - - - 1 Johan den Dunnen
+/. - c.939+1G>A r.spl? p.? Unknown - pathogenic g.126147591G>A - LMNB1(NM_005573.3):c.939+1G>A (p.?) - LMNB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.939+1G>T r.spl? p.? Unknown - likely pathogenic g.126147591G>T - - - LMNB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i_8i c.(939+1_939+2362)_(1491+560_1492-1)del r.(940_1491del) p.(Ser314_Thr497del) Maternal (confirmed) - pathogenic (dominant) g.(126147591_126149952)_(126159137_126161679)del - 5q23.2(126,149,952-126,159,137)x1mat - LMNB1_000023 variant de novo in mother PubMed: Cristofoli 2020 - - Germline yes - - - - DNA arrayCGH - OGT Cytosure 180k, v3 array) ? Pat2 PubMed: Cristofoli 2020 family, affected mother/daughter; daughter F no Belgium white - - - - 2 Johan den Dunnen
?/. - c.946G>C r.(?) p.(Ala316Pro) Unknown - VUS g.126154620G>C g.126818928G>C LMNB1(NM_005573.4):c.946G>C (p.A316P) - LMNB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031G>A r.(?) p.(Arg344Lys) Unknown - likely benign g.126154705G>A - LMNB1(NM_005573.3):c.1031G>A (p.R344K) - LMNB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1079A>G r.(?) p.(Tyr360Cys) Unknown - VUS g.126154753A>G - LMNB1(NM_005573.4):c.1079A>G (p.Y360C) - LMNB1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1161-4A>G r.spl? p.? Unknown - likely benign g.126156598A>G - LMNB1(NM_005573.3):c.1161-4A>G - LMNB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1190G>A r.(?) p.(Arg397His) Unknown - VUS g.126156631G>A g.126820939G>A LMNB1(NM_001198557.1):c.560G>A (p.(Arg187His)) - LMNB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197A>C r.(?) p.(Thr399=) Unknown - likely benign g.126156638A>C g.126820946A>C LMNB1(NM_005573.3):c.1197A>C (p.T399=) - LMNB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221T>C r.(?) p.(Arg407=) Unknown - likely benign g.126156662T>C - LMNB1(NM_001198557.1):c.591T>C (p.(=)) - LMNB1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323T>C r.(?) p.(Asn441=) Unknown - likely benign g.126156764T>C g.126821072T>C LMNB1(NM_005573.3):c.1323T>C (p.N441=) - LMNB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1332C>T r.(?) p.(=) Unknown - likely benign g.126156773C>T - LMNB1(NM_005573.4):c.1332C>T (p.I444=) - LMNB1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1365C>T r.(?) p.(Arg455=) Unknown - likely pathogenic g.126156806C>T g.126821114C>T LMNB1(NM_005573.3):c.1365C>T(p.R455R) - LMNB1_000037 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 121 - - - DNA SEQ-NG-I blood - ? WHP21 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
?/. - c.1379C>T r.(?) p.(Ser460Phe) Unknown - VUS g.126156820C>T - LMNB1(NM_001198557.1):c.749C>T (p.(Ser250Phe)) - LMNB1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1387-18C>G r.(=) p.(=) Unknown - VUS g.126158455C>G g.126822763C>G LMNB1(NM_001198557.1):c.757-18C>G (p.(=)) - LMNB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1424T>C r.(?) p.(Ile475Thr) Unknown - VUS g.126158510T>C - LMNB1(NM_005573.4):c.1424T>C (p.(Ile475Thr)) - LMNB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1462_1464del r.(?) p.(Tyr488del) Unknown - VUS g.126158548_126158550del - LMNB1(NM_005573.3):c.1462_1464delTAT (p.Y488del), LMNB1(NM_005573.4):c.1462_1464delTAT (p.Y488del) - LMNB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1462_1464del r.(?) p.(Tyr488del) Unknown - VUS g.126158548_126158550del - LMNB1(NM_005573.3):c.1462_1464delTAT (p.Y488del), LMNB1(NM_005573.4):c.1462_1464delTAT (p.Y488del) - LMNB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1490C>A r.(?) p.(Thr497Lys) Unknown - VUS g.126158576C>A - LMNB1(NM_005573.3):c.1490C>A (p.T497K) - LMNB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1502C>T r.(?) p.(Ala501Val) Unknown - benign g.126161690C>T g.126825998C>T LMNB1(NM_001198557.1):c.872C>T (p.(Ala291Val)), LMNB1(NM_005573.4):c.1502C>T (p.A501V) - LMNB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1502C>T r.(?) p.(Ala501Val) Unknown - likely benign g.126161690C>T g.126825998C>T LMNB1(NM_001198557.1):c.872C>T (p.(Ala291Val)), LMNB1(NM_005573.4):c.1502C>T (p.A501V) - LMNB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1502C>T r.(?) p.(Ala501Val) Parent #1 - likely benign g.126161690C>T g.126825998C>T - - LMNB1_000006 169 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36105360 Germline - 169/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 169 Mohammed Faruq
-?/. - c.1502C>T r.(?) p.(Ala501Val) Both (homozygous) - likely benign g.126161690C>T g.126825998C>T - - LMNB1_000006 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36105360 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.1502C>T r.(?) p.(Ala501Val) Unknown - benign g.126161690C>T - LMNB1(NM_001198557.1):c.872C>T (p.(Ala291Val)), LMNB1(NM_005573.4):c.1502C>T (p.A501V) - LMNB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503A>G r.(?) p.(Ala501=) Unknown - likely benign g.126161691A>G g.126825999A>G LMNB1(NM_005573.3):c.1503A>G (p.A501=) - LMNB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1506C>T r.(?) p.(=) Unknown - likely benign g.126161694C>T - LMNB1(NM_005573.4):c.1506C>T (p.N502=) - LMNB1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1529dup r.(?) p.(Thr511Asnfs*2) Unknown - VUS g.126161717dup - LMNB1(NM_005573.3):c.1529dupC (p.(Thr511fs)) - LMNB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559C>T r.(?) p.(Ser520Leu) Unknown - VUS g.126161747C>T - LMNB1(NM_005573.3):c.1559C>T (p.(Ser520Leu)) - LMNB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1560G>A r.(?) p.(Ser520=) Unknown - likely benign g.126161748G>A - LMNB1(NM_001198557.1):c.930G>A (p.(Ser310=)), LMNB1(NM_005573.4):c.1560G>A (p.S520=) - LMNB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1560G>A r.(?) p.(Ser520=) Unknown - benign g.126161748G>A - LMNB1(NM_001198557.1):c.930G>A (p.(Ser310=)), LMNB1(NM_005573.4):c.1560G>A (p.S520=) - LMNB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1671_1673del r.(?) p.(Glu559del) Unknown - VUS g.126168445_126168447del - LMNB1(NM_005573.4):c.1671_1673delGGA (p.E559del) - LMNB1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1671_1673dup r.(?) p.(Glu559dup) Unknown - VUS g.126168445_126168447dup - LMNB1(NM_001198557.1):c.1041_1043dup (p.(Glu349dup)), LMNB1(NM_005573.3):c.1671_1673dupGGA (p.E559dup) - LMNB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1671_1673dup r.(?) p.(Glu559dup) Unknown - VUS g.126168445_126168447dup - LMNB1(NM_001198557.1):c.1041_1043dup (p.(Glu349dup)), LMNB1(NM_005573.3):c.1671_1673dupGGA (p.E559dup) - LMNB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18C>T r.(=) p.(=) Unknown - benign g.126171974C>T g.126836282C>T LMNB1(NM_005573.4):c.*18C>T - LMNB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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