Full data view for gene SHMT2

Information The variants shown are described using the NM_005412.5 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.469C>T r.(?) p.(Pro157Ser) Paternal (confirmed) - pathogenic (recessive) g.57625653C>T g.57231870C>T - - SHMT2_000003 - PubMed: Garcia-Cazorla 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat4 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.557C>G r.(?) p.(Thr186Arg) Paternal (confirmed) - pathogenic (recessive) g.57626038C>G g.57232255C>G - - SHMT2_000004 - PubMed: Garcia-Cazorla 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat5 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.717+9G>T r.(=) p.(=) Unknown - likely benign g.57626367G>T - SHMT2(NM_005412.6):c.717+9G>T - NDUFA4L2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778G>T r.(?) p.(Ala260Ser) Unknown - VUS g.57626547G>T g.57232764G>T SHMT2(NM_001166357.1):c.715G>T (p.A239S) - SHMT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1124-4_1125delinsA r.1124_1126del p.Gly375del Paternal (confirmed) - pathogenic (recessive) g.57627528_57627533delinsA g.57233745_57233750delinsA - - SHMT2_000002 - PubMed: Garcia-Cazorla 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat3 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1135A>G r.(?) p.(Asn379Asp) Maternal (confirmed) - pathogenic (recessive) g.57627543A>G g.57233760A>G - - SHMT2_000005 - PubMed: Garcia-Cazorla 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat5 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1267G>A r.(?) p.(Gly423Ser) Maternal (confirmed) - pathogenic (recessive) g.57627675G>A g.57233892G>A - - SHMT2_000006 - PubMed: Garcia-Cazorla 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat3 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.1280-7G>A r.(=) p.(=) Unknown - likely benign g.57627779G>A - SHMT2(NM_001166357.1):c.1217-7G>A - NDUFA4L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1304A>C r.(?) p.(Gln435Pro) Maternal (confirmed) - pathogenic (recessive) g.57627810A>C g.57234027A>C - - SHMT2_000007 - PubMed: Garcia-Cazorla 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat4 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1495C>G r.(?) p.(Pro499Ala) Both (homozygous) - pathogenic (recessive) g.57628124C>G g.57234341C>G - - SHMT2_000008 - PubMed: Garcia-Cazorla 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: Garcia-Cazorla 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - 2 Johan den Dunnen
+/. - c.1495C>G r.(?) p.(Pro499Ala) Parent #2 - pathogenic (recessive) g.57628124C>G g.57234341C>G - - SHMT2_000008 - PubMed: Garcia-Cazorla 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat2 PubMed: Garcia-Cazorla 2020 brother M yes - - - - - - 1 Johan den Dunnen
-?/. - c.*9460C>T r.(=) p.(=) Unknown - likely benign g.57637604C>T - STAC3(NM_145064.3):c.1086G>A (p.E362=) - NDUFA4L2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9745G>C r.(=) p.(=) Unknown - VUS g.57637889G>C - STAC3(NM_145064.3):c.978C>G (p.(Ile326Met)) - NDUFA4L2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9798del r.(?) p.(=) Unknown - VUS g.57637942del g.57244159del STAC3(NM_145064.2):c.925delC (p.R309Vfs*5) - NDUFA4L2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9961C>G r.(=) p.(=) Unknown - VUS g.57638105C>G g.57244322C>G - - STAC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9979T>C r.(=) p.(=) Unknown - VUS g.57638123T>C - STAC3(NM_001286256.1):c.716A>G (p.(Asp239Gly)) - NDUFA4L2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*10858G>A r.(=) p.(=) Unknown - likely benign g.57639002G>A - STAC3(NM_001286256.1):c.487-8C>T (p.(=)) - NDUFA4L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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