Full data view for gene DLD

Information The variants shown are described using the NM_000108.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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.34G>A r.(?) p.(Ala12Thr) Unknown - benign g.107531729G>A g.107891284G>A DLD(NM_000108.5):c.34G>A (p.A12T) - DLD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35C>T r.(?) p.(Ala12Val) Unknown - VUS g.107531730C>T - DLD(NM_000108.5):c.35C>T (p.A12V) - DLD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45C>G r.(?) p.(Gly15=) Unknown - likely benign g.107533650C>G g.107893205C>G DLD(NM_000108.4):c.45C>G (p.G15=), DLD(NM_000108.5):c.45C>G (p.G15=) - DLD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45C>G r.(?) p.(Gly15=) Unknown - likely benign g.107533650C>G g.107893205C>G DLD(NM_000108.4):c.45C>G (p.G15=), DLD(NM_000108.5):c.45C>G (p.G15=) - DLD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74A>C r.(?) p.(Gln25Pro) Unknown - VUS g.107533679A>C g.107893234A>C DLD(NM_000108.4):c.74A>C (p.Q25P), DLD(NM_000108.5):c.74A>C (p.Q25P) - DLD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74A>C r.(?) p.(Gln25Pro) Unknown - likely benign g.107533679A>C g.107893234A>C DLD(NM_000108.4):c.74A>C (p.Q25P), DLD(NM_000108.5):c.74A>C (p.Q25P) - DLD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82T>C r.(?) p.(Ser28Pro) Unknown - likely benign g.107533687T>C g.107893242T>C DLD(NM_000108.4):c.82T>C (p.S28P) - DLD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100A>G r.(?) p.(Thr34Ala) Unknown - likely benign g.107533705A>G g.107893260A>G DLD(NM_000108.3):c.100A>G (p.(Thr34Ala)), DLD(NM_000108.4):c.100A>G (p.T34A) - DLD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100A>G r.(?) p.(Thr34Ala) Unknown - likely benign g.107533705A>G g.107893260A>G DLD(NM_000108.3):c.100A>G (p.(Thr34Ala)), DLD(NM_000108.4):c.100A>G (p.T34A) - DLD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.104dup r.(?) p.(Tyr35Ter) Unknown - pathogenic g.107533709dup g.107893264dup DLD(NM_000108.5):c.104dupA (p.Y35*) - DLD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.105C>G r.(?) p.(Tyr35*) Unknown - VUS g.107533710C>G - DLD(NM_000108.4):c.105C>G (p.Y35*) - DLD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.198+3A>G r.spl? p.? Unknown - VUS g.107542265A>G - DLD(NM_000108.5):c.198+3A>G - DLD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.273A>T r.(?) p.(Leu91Phe) Unknown ACMG VUS g.107543928A>T g.107903483A>T - - DLD_000031 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.278A>G r.(?) p.(Asn93Ser) Unknown - VUS g.107543933A>G g.107903488A>G DLD(NM_000108.3):c.278A>G (p.(Asn93Ser)) - DLD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321A>G r.(?) p.(Ala107=) Unknown - benign g.107543976A>G g.107903531A>G DLD(NM_000108.5):c.321A>G (p.A107=) - DLD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406G>C r.(?) p.(Gly136Arg) Unknown - VUS g.107545471G>C g.107905026G>C DLD(NM_000108.5):c.406G>C (p.G136R) - DLD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.439-7T>C r.(=) p.(=) Unknown - benign g.107545799T>C g.107905354T>C DLD(NM_000108.5):c.439-7T>C - DLD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.439-7T>C r.(=) p.(=) Unknown - benign g.107545799T>C g.107905354T>C DLD(NM_000108.5):c.439-7T>C - DLD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.439-7T>C r.(=) p.(=) Unknown - benign g.107545799T>C g.107905354T>C DLD(NM_000108.5):c.439-7T>C - DLD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458A>G r.(?) p.(Tyr153Cys) Unknown - VUS g.107545825A>G g.107905380A>G DLD(NM_000108.5):c.458A>G (p.Y153C) - DLD_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507C>T r.(?) p.(Gly169=) Unknown - likely benign g.107545874C>T g.107905429C>T DLD(NM_000108.4):c.507C>T (p.G169=), DLD(NM_000108.5):c.507C>T (p.G169=) - DLD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507C>T r.(?) p.(Gly169=) Unknown - likely benign g.107545874C>T g.107905429C>T DLD(NM_000108.4):c.507C>T (p.G169=), DLD(NM_000108.5):c.507C>T (p.G169=) - DLD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543A>T r.(?) p.(Ile181=) Unknown - likely benign g.107545910A>T g.107905465A>T DLD(NM_000108.4):c.543A>T (p.I181=), DLD(NM_000108.5):c.543A>T (p.I181=) - DLD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543A>T r.(?) p.(Ile181=) Unknown - likely benign g.107545910A>T g.107905465A>T DLD(NM_000108.4):c.543A>T (p.I181=), DLD(NM_000108.5):c.543A>T (p.I181=) - DLD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543A>T r.(?) p.(Ile181=) Unknown - likely benign g.107545910A>T g.107905465A>T DLD(NM_000108.4):c.543A>T (p.I181=), DLD(NM_000108.5):c.543A>T (p.I181=) - DLD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549G>A r.(?) p.(Thr183=) Unknown - likely benign g.107545916G>A g.107905471G>A DLD(NM_000108.4):c.549G>A (p.T183=) - DLD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582+18T>C r.(=) p.(=) Unknown - likely benign g.107545967T>C g.107905522T>C DLD(NM_000108.5):c.582+18T>C - DLD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.675T>C r.(?) p.(Gly225=) Unknown - benign g.107546804T>C g.107906359T>C DLD(NM_000108.5):c.675T>C (p.G225=) - DLD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.685-14T>A r.(=) p.(=) Unknown - benign g.107555937T>A g.107915492T>A DLD(NM_000108.5):c.685-14T>A - DLD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.685G>T r.(?) p.(Gly229Cys) Both (homozygous) ACMG pathogenic g.107555951G>T g.107915506G>T - - DLD_000001 the patient also has a maternally inherited heteroplasmic variant in the MT-CO1 gene (m.7443A>C, p.(Ter514Argext*?)) PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - DLDD, MTCO1 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.685G>T r.(?) p.(Gly229Cys) Both (homozygous) ACMG pathogenic g.107555951G>T g.107915506G>T - - DLD_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - DLDD - PubMed: Trujillano 2017 no information from parents - - - - - - - - 1 Daniel Trujillano
+/. - c.685G>T r.(?) p.(Gly229Cys) Unknown - pathogenic g.107555951G>T g.107915506G>T DLD(NM_000108.5):c.685G>T (p.G229C) - DLD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.788G>A r.(?) p.(Arg263His) Unknown - VUS g.107556054G>A g.107915609G>A DLD(NM_000108.4):c.788G>A (p.R263H), DLD(NM_000108.5):c.788G>A (p.(Arg263His)) - DLD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.788G>A r.(?) p.(Arg263His) Unknown - VUS g.107556054G>A - DLD(NM_000108.4):c.788G>A (p.R263H), DLD(NM_000108.5):c.788G>A (p.(Arg263His)) - DLD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.803_804del r.(?) p.(Gln268Argfs*3) Unknown - pathogenic g.107556069_107556070del - - - DLD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.826A>T r.(?) p.(Thr276Ser) Unknown - VUS g.107556092A>T g.107915647A>T DLD(NM_000108.4):c.826A>T (p.T276S) - DLD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.860G>A r.(?) p.(Gly287Glu) Unknown - VUS g.107556126G>A g.107915681G>A DLD(NM_000108.5):c.860G>A (p.G287E) - DLD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.893G>A r.(?) p.(Gly298Asp) Unknown - likely benign g.107557256G>A g.107916811G>A DLD(NM_000108.4):c.893G>A (p.G298D) - DLD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.900del r.(?) p.(Ala301LeufsTer24) Unknown - VUS g.107557263del g.107916818del DLD(NM_000108.3):c.898del (p.(Ala301LeufsTer24)) - DLD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123G>A r.(?) p.(Glu375Lys) Unknown - VUS g.107557794G>A g.107917349G>A DLD(NM_000108.3):c.1123G>A (p.(Glu375Lys)) - DLD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1123G>A r.(?) p.(Glu375Lys) Both (homozygous) - pathogenic (recessive) g.107557794G>A g.107917349G>A - - DLD_000013 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS mitochondrial 28771251-Pat16 PubMed: Lionel 2018 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.1123G>A r.(?) p.(Glu375Lys) Both (homozygous) - pathogenic g.107557794G>A g.107917349G>A - - DLD_000013 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat31 PubMed: Pronicka 2016 - F - Poland - - - - - 1 Johan den Dunnen
+?/. - c.1123G>A r.(?) p.(Glu375Lys) Parent #1 - likely pathogenic g.107557794G>A g.107917349G>A - - DLD_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121964992 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1337C>T r.(?) p.(Ser446Leu) Unknown - VUS g.107558469C>T g.107918024C>T DLD(NM_000108.3):c.1337C>T (p.(Ser446Leu)) - DLD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1422A>C r.(?) p.(Gly474=) Unknown - likely benign g.107559502A>C g.107919057A>C DLD(NM_000108.5):c.1422A>C (p.G474=) - DLD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1422A>C r.(=) p.(=) Parent #1 - benign g.107559502A>C g.107919057A>C - - DLD_000014 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34453495 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.1436A>T r.(?) p.(Asp479Val) Both (homozygous) ACMG pathogenic g.107559516A>T g.107919071A>T - - DLD_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - DLDD - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. - c.1440A>G r.(?) p.(Ile480Met) Unknown - VUS g.107559520A>G - - - DLD_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1444A>G r.(?) p.(Arg482Gly) Both (homozygous) - pathogenic g.107559524A>G g.107919079A>G R482G - DLD_000041 - PubMed: Legati 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - mitochondrial NGSP33 PubMed: Legati 2016 - F - - - - - - - 1 Daniele Ghezzi
-/. - c.*18A>T r.(=) p.(=) Unknown - benign g.107559722A>T g.107919277A>T DLD(NM_000108.5):c.*18A>T - DLD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18A>T r.(=) p.(=) Unknown - benign g.107559722A>T g.107919277A>T DLD(NM_000108.5):c.*18A>T - DLD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18A>T r.(=) p.(=) Unknown - benign g.107559722A>T g.107919277A>T DLD(NM_000108.5):c.*18A>T - DLD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4731_*4732dup r.(=) p.(=) Unknown - VUS g.107564435_107564436dup g.107923990_107923991dup LAMB1(NM_002291.2):c.5325_5326insTA (p.(Ser1776Ter)) - LAMB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4748G>A r.(=) p.(=) Unknown - VUS g.107564452G>A - LAMB1(NM_002291.3):c.5305C>T (p.(Arg1769Cys)) - DLD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4752T>A r.(=) p.(=) Unknown - VUS g.107564456T>A - LAMB1(NM_002291.3):c.5301A>T (p.(Glu1767Asp)) - DLD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4835G>A r.(=) p.(=) Unknown - benign g.107564539G>A g.107924094G>A LAMB1(NM_002291.3):c.5225-7C>T - LAMB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4835_*4836del r.(=) p.(=) Unknown - benign g.107564539_107564540del g.107924094_107924095del LAMB1(NM_002291.3):c.5225-6_5225-5delCC - LAMB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4837_*4838insTA r.(=) p.(=) Unknown - likely benign g.107564541_107564542insTA - LAMB1(NM_002291.3):c.5225-9_5225-8insAT - DLD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4838G>T r.(=) p.(=) Unknown - benign g.107564542G>T g.107924097G>T LAMB1(NM_002291.3):c.5225-10C>A - LAMB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5032C>G r.(=) p.(=) Unknown - likely benign g.107564736C>G - LAMB1(NM_002291.2):c.5163G>C (p.M1721I) - DLD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5038G>A r.(=) p.(=) Unknown - likely benign g.107564742G>A g.107924297G>A LAMB1(NM_002291.2):c.5157C>T (p.A1719=) - DLD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5134T>C r.(=) p.(=) Unknown - likely benign g.107564838T>C - LAMB1(NM_002291.3):c.5065-4A>G - DLD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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