Full data view for gene TM2D3

Information The variants shown are described using the NM_078474.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.(?_-23376)_(*1_?)del r.0 p.0 Paternal (confirmed) - likely pathogenic (recessive) g.(?_102182681)_(102215940_?)del g.(?_101642478)_(101675737_?)del chr15:102182681–102215940 (GRCh37) - TM2D3_000005 del15q26.3 (33 kb) PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+?/. - c.7G>T r.(?) p.(Gly3Ter) Maternal (confirmed) - likely pathogenic (recessive) g.102192558C>A g.101652355C>A - - TM2D3_000007 - PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 SCV005387827 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Fam1PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
+?/. - c.153dup r.(?) p.(Val52SerfsTer9) Paternal (confirmed) - likely pathogenic (recessive) g.102191915dup g.101651712dup - - TM2D3_000006 - PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 SCV005387828 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
+?/. - c.503G>A r.503G>A p.Gly168Asp Paternal (confirmed) - likely pathogenic (recessive) g.102185365C>T g.101645162C>T - - TM2D3_000004 variant has no effect on splicing PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 SCV005387825 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Fam1PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
+?/. - c.503G>A r.(?) p.(Gly168Asp) Maternal (confirmed) - likely pathogenic (recessive) g.102185365C>T g.101645162C>T - - TM2D3_000004 - PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 SCV005387825 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
+?/. - c.503G>A r.(?) p.(Gly168Asp) Both (homozygous) - likely pathogenic (recessive) g.102185365C>T g.101645162C>T - - TM2D3_000004 - PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 SCV005387825 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - 1 Johan den Dunnen
?/. - c.677C>T r.(?) p.(Thr226Met) Both (homozygous) - VUS g.102182749G>A g.101642546G>A - - TM2D3_000002 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR325 PubMed: Riazuddin 2017 - - yes Pakistan Punjabi - - - - 1 Johan den Dunnen
+?/. - c.677C>T r.(?) p.(Thr226Met) Maternal (confirmed) - likely pathogenic (recessive) g.102182749G>A g.101642546G>A - - TM2D3_000002 - PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 SCV005387826 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+?/. - c.687C>A r.(?) p.(Asp229Glu) Unknown - VUS g.102182739G>T g.101642536G>T - - TM2D3_000001 - PubMed: Cox 2019 - - Germline - - - - - DNA SEQ-NG - - CLP Fam4527 PubMed: Cox 2019 4-generation family, 6 affected (3F, 3M) F;M - United States - - - - - 6 Timothy Cox
?/. - c.688G>A r.(?) p.(Val230Ile) Unknown - VUS g.102182738C>T - TM2D3(NM_078474.3):c.688G>A (p.V230I) - TM2D3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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