Full data view for gene C10orf11

NOTE: gene name changed from C10orf11 to LRMDA
Information The variants shown are described using the NM_032024.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

Template     

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Disease     

ID_report     

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Panel size     

Owner     
./. - c.-1571141_*209815del r.? p.? Unknown - pathogenic g.75971593_78526861del g.74211835_76767103del - - ADK_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.-351293C>A r.(?) p.(=) Unknown - benign g.77191441C>A g.75431683C>A - - C10orf11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-351231T>C r.(?) p.(=) Unknown - likely benign g.77191503T>C g.75431745T>C LRMDA(NM_001305581.2):c.21T>C (p.R7=) - C10orf11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-351206C>T r.(?) p.(=) Unknown - likely benign g.77191528C>T - LRMDA(NM_001305581.2):c.30+16C>T - C10orf11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.21del r.(?) p.(Ser8Alafs*14) Parent #1 - VUS g.77542754del g.75782996del - - C10orf11_000014 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146123023 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.32A>C r.(?) p.(His11Pro) Unknown - likely benign g.77542765A>C g.75783007A>C C10orf11(NM_032024.4):c.32A>C (p.H11P) - C10orf11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.66dup r.(?) p.(Ala23Argfs*39) Both (homozygous) - likely pathogenic (recessive) g.77795784dup g.76036026dup c.66dupC - C10orf11_000004 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.66dup r.(?) p.(Ala23Argfs*39) Both (homozygous) - pathogenic (recessive) g.77795784dup g.76036026dup c.150dup (Ala51Argfs*39) - C10orf11_000004 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism LRMDA-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.75G>A r.(?) p.(Arg25=) Unknown - likely benign g.77795793G>A g.76036035G>A LRMDA(NM_032024.4):c.75G>A (p.R25=), LRMDA(NM_032024.5):c.75G>A (p.R25=) - C10orf11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75G>A r.(?) p.(Arg25=) Unknown - likely benign g.77795793G>A - LRMDA(NM_032024.4):c.75G>A (p.R25=), LRMDA(NM_032024.5):c.75G>A (p.R25=) - C10orf11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.89T>C r.(?) p.(Leu30Pro) Maternal (confirmed) ACMG pathogenic (recessive) g.77795807T>C - c.173T>C (Leu58Pro) - C10orf11_000017 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism LRMDA-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - white - - - - 1 Johan den Dunnen
-/. - c.109C>T r.(?) p.(Leu37=) Unknown - benign g.77795827C>T g.76036069C>T C10orf11(NM_032024.4):c.109C>T (p.L37=), LRMDA(NM_032024.5):c.109C>T (p.L37=) - C10orf11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109C>T r.(?) p.(Leu37=) Unknown - likely benign g.77795827C>T g.76036069C>T C10orf11(NM_032024.4):c.109C>T (p.L37=), LRMDA(NM_032024.5):c.109C>T (p.L37=) - C10orf11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.138A>G r.(?) p.(Leu46=) Unknown - benign g.77795856A>G g.76036098A>G LRMDA(NM_032024.5):c.138A>G (p.L46=) - C10orf11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160C>A r.(?) p.(Leu54Ile) Unknown - VUS g.77795878C>A - LRMDA(NM_032024.4):c.160C>A (p.L54I) - C10orf11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.163A>T r.(?) p.(Asn55Tyr) Paternal (confirmed) - pathogenic (recessive) g.77795881A>T - c.247A>T (Asn83Tyr) - C10orf11_000018 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism LRMDA-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - white - - - - 1 Johan den Dunnen
-/. - c.280T>C r.(?) p.(Leu94=) Unknown - benign g.77807027T>C g.76047269T>C - - C10orf11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.382C>T r.(?) p.(Arg128*) Both (homozygous) - pathogenic (recessive) g.77818491C>T - c.466C>T (Arg156*) - C10orf11_000019 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism LRMDA-P1 PubMed: Lasseaux 2018 analysis 990 cases albinism - - Morocco - - - - - 1 Johan den Dunnen
-/. - c.396G>T r.(?) p.(Leu132Phe) Unknown - benign g.77818505G>T g.76058747G>T C10orf11(NM_032024.4):c.396G>T (p.L132F) - C10orf11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462G>A r.(?) p.(Pro154=) Unknown - likely benign g.78084188G>A g.76324430G>A C10orf11(NM_032024.4):c.462G>A (p.P154=) - C10orf11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467G>A r.(?) p.(Arg156His) Unknown - VUS g.78084193G>A g.76324435G>A LRMDA(NM_032024.5):c.467G>A (p.R156H) - C10orf11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540C>T r.(?) p.(Tyr180=) Unknown - likely benign g.78316989C>T g.76557231C>T C10orf11(NM_032024.4):c.540C>T (p.Y180=) - C10orf11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565G>A r.(?) p.(Gly189Ser) Unknown - VUS g.78317014G>A g.76557256G>A - - C10orf11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.580C>T r.(?) p.(Arg194Ter) Unknown - likely pathogenic g.78317029C>T g.76557271C>T LRMDA(NM_032024.4):c.580C>T (p.R194*), LRMDA(NM_032024.5):c.580C>T (p.R194*) - C10orf11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.580C>T r.(?) p.(Arg194Ter) Unknown - pathogenic g.78317029C>T - LRMDA(NM_032024.4):c.580C>T (p.R194*), LRMDA(NM_032024.5):c.580C>T (p.R194*) - C10orf11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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