Full data view for gene LEMD2

Information The variants shown are described using the NM_181336.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.1A>C r.(?) p.? Unknown - VUS g.33756893T>G - LEMD2(NM_181336.4):c.1A>C (p.(Met1?)) - LEMD2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.38T>G r.(?) p.(Leu13Arg) Both (homozygous) - pathogenic (recessive) g.33756856A>C g.33789079A>C T38G - LEMD2_000004 - PubMed: Boone 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT 26788539-FamAR-899 PubMed: Boone 2015 7-generation family, 5 affected (5M), unaffected heterozygous carrier parents/relatives M yes United States Hutterite - - - - 5 Johan den Dunnen
+/. - c.38T>G r.(?) p.(Leu13Arg) Both (homozygous) - pathogenic (recessive) g.33756856A>C g.33789079A>C T38G - LEMD2_000004 - PubMed: Boone 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT 26788539-FamAR-900 PubMed: Boone 2015 9-generation family, 15 affected (7F, 8M), unaffected heterozygous carrier parents/relatives F;M yes United States Hutterite - - - - 15 Johan den Dunnen
?/. - c.76A>G r.(?) p.(Thr26Ala) Unknown - VUS g.33756818T>C - LEMD2(NM_181336.3):c.76A>G (p.(Thr26Ala)) - LEMD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>A r.(?) p.(Thr26Asn) Unknown - VUS g.33756817G>T - LEMD2(NM_181336.3):c.77C>A (p.T26N) - LEMD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94C>T r.(?) p.(Arg32Cys) Unknown - VUS g.33756800G>A g.33789023G>A LEMD2(NM_181336.3):c.94C>T (p.R32C) - LEMD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188G>T r.(?) p.(Arg63Leu) Unknown - VUS g.33756706C>A - LEMD2(NM_181336.3):c.188G>T (p.(Arg63Leu)) - LEMD2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316_318del r.(?) p.(Asp106del) Unknown - VUS g.33756577_33756579del - LEMD2(NM_181336.4):c.316_318del (p.(Asp106del)) - LEMD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335C>G r.(?) p.(Ala112Gly) Unknown - VUS g.33756559G>C - LEMD2(NM_181336.3):c.335C>G (p.(Ala112Gly)) - LEMD2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342G>C r.(?) p.(Trp114Cys) Unknown - likely benign g.33756552C>G - LEMD2(NM_181336.3):c.342G>C (p.(Trp114Cys)) - LEMD2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.345A>C r.(?) p.(Val115=) Unknown - likely benign g.33756549T>G g.33788772T>G LEMD2(NM_181336.3):c.345A>C (p.V115=) - LEMD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Gly119=) Unknown - likely benign g.33756537G>A g.33788760G>A LEMD2(NM_181336.3):c.357C>T (p.G119=) - LEMD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488G>T r.(?) p.(Trp163Leu) Unknown - VUS g.33756406C>A - LEMD2(NM_181336.3):c.488G>T (p.W163L) - LEMD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572G>A r.(?) p.(Gly191Asp) Unknown - likely benign g.33756322C>T g.33788545C>T LEMD2(NM_181336.3):c.572G>A (p.G191D) - LEMD2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.684C>G r.(?) p.(Ile228Met) Unknown - VUS g.33756210G>C - LEMD2(NM_181336.4):c.684C>G (p.(Ile228Met)) - LEMD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.710C>T r.(?) p.(Ser237Leu) Unknown - likely benign g.33756184G>A - LEMD2(NM_181336.3):c.710C>T (p.(Ser237Leu)) - LEMD2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.781T>C r.(?) p.(Cys261Arg) Unknown - VUS g.33752201A>G - LEMD2(NM_181336.3):c.781T>C (p.C261R) - LEMD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.807G>T r.(?) p.(Leu269Phe) Unknown - VUS g.33752175C>A g.33784398C>A LEMD2(NM_181336.3):c.807G>T (p.L269F) - LEMD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951C>T r.(?) p.(Ser317=) Unknown - likely benign g.33747936G>A - LEMD2(NM_181336.3):c.951C>T (p.S317=) - LEMD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976T>A r.(?) p.(Trp326Arg) Unknown - VUS g.33747911A>T g.33780134A>T LEMD2(NM_181336.3):c.976T>A (p.W326R) - LEMD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1151_1153del r.(?) p.(Phe384del) Unknown - VUS g.33746028_33746030del - LEMD2(NM_181336.4):c.1151_1153delTCT (p.F384del) - LEMD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1258+4C>T r.spl? p.? Unknown - likely benign g.33744911G>A g.33777134G>A LEMD2(NM_181336.3):c.1258+4C>T - LEMD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1333C>T r.(?) p.(Arg445Cys) Unknown - VUS g.33744759G>A - LEMD2(NM_181336.4):c.1333C>T (p.(Arg445Cys)) - LEMD2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1361+9C>T r.(=) p.(=) Unknown - benign g.33744722G>A g.33776945G>A LEMD2(NM_181336.3):c.1361+9C>T - LEMD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1436C>T r.(?) p.(Ser479Phe) Unknown - pathogenic g.33740481G>A g.33772704G>A - - LEMD2_000003 - PubMed: Marbach 2019, Journal: Marbach 2019 - - De novo yes - - - - DNA SEQ-NG - - progeroid Pat1 PubMed: Marbach 2019, Journal: Marbach 2019 - M - Germany - - - - - 1 Davor Lessel
+/. - c.1436C>T r.(?) p.(Ser479Phe) Unknown - pathogenic g.33740481G>A g.33772704G>A - - LEMD2_000003 - PubMed: Marbach 2019, Journal: Marbach 2019 - - De novo yes - - - - DNA SEQ-NG - - progeroid Pat2 PubMed: Marbach 2019, Journal: Marbach 2019 - M - Norway - - - - - 1 Davor Lessel
-/. - c.*23C>T r.(=) p.(=) Unknown - benign g.33740382G>A - LEMD2(NM_181336.4):c.*23C>T - LEMD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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