Full data view for gene GDF3

Information The variants shown are described using the NM_020634.1 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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>T r.(?) p.(Met1?) Unknown - VUS g.7848324T>A g.7695728T>A GDF3(NM_020634.2):c.1A>T (p.M1?) - GDF3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.123C>G r.(?) p.(Pro41=) Unknown - benign g.7848202G>C g.7695606G>C GDF3(NM_020634.2):c.123C>G (p.P41=) - GDF3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.232G>C r.(?) p.(Val78Leu) Parent #1 - likely pathogenic g.7848093C>G g.7695497C>G - - GDF3_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs780787386 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.232G>C r.(?) p.(Val78Leu) Maternal (confirmed) ACMG VUS g.7848093C>G g.7695497C>G - - GDF3_000012 ACMG PP3 PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F16‐M PubMed: Patel 2017 patient, unaffected heterozygous carrier mother - no Saudi Arabia - - - - - 1 LOVD
-?/. - c.321G>T r.(?) p.(Lys107Asn) Unknown - likely benign g.7843248C>A - GDF3(NM_020634.1):c.321G>T (p.(Lys107Asn)) - GDF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.508C>T r.(?) p.(Arg170Trp) Unknown - VUS g.7843061G>A g.7690465G>A GDF3(NM_020634.2):c.508C>T (p.R170W) - GDF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579C>T r.(?) p.(Asn193=) Unknown - likely benign g.7842990G>A - GDF3(NM_020634.2):c.579C>T (p.N193=) - GDF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.583C>T r.(?) p.(Arg195Trp) Unknown - likely benign g.7842986G>A g.7690390G>A GDF3(NM_020634.1):c.583C>T (p.(Arg195Trp)) - GDF3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603C>T r.(?) p.(Phe201=) Unknown - likely benign g.7842966G>A - GDF3(NM_020634.2):c.603C>T (p.F201=) - GDF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.636_637del r.(?) p.(Val214GlufsTer5) Paternal (confirmed) - VUS g.7842932_7842933del g.7690336_7690337del 636_637delAG - GDF3_000021 candidate disease gene PubMed: Astiazaran 2018 - - Germline - - - - - DNA SEQ-NG - gene panel CTRCT Fam1PatIII1 PubMed: Astiazaran 2018 2-generation family, affected father/son, unaffected carrier grandfather M - Mexico - - - - - 2 Johan den Dunnen
+?/. - c.636_637del r.(?) p.(Val214GlufsTer5) Paternal (confirmed) - VUS g.7842932_7842933del g.7690336_7690337del 637_637delAG - GDF3_000021 candidate disease gene PubMed: Astiazaran 2018 - - Germline - - - - - DNA SEQ-NG - gene panel CTRCT Fam1PatII2 PubMed: Astiazaran 2018 father M - Mexico - - - - - 1 Johan den Dunnen
-/. - c.637G>A r.(?) p.(Gly213Arg) Unknown - benign g.7842932C>T g.7690336C>T GDF3(NM_020634.2):c.637G>A (p.G213R) - GDF3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.740G>A r.(?) p.(Arg247Gln) Unknown - VUS g.7842829C>T g.7690233C>T GDF3(NM_020634.1):c.740G>A (p.(Arg247Gln)) - GDF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.790T>C r.(?) p.(Cys264Arg) Unknown - VUS g.7842779A>G - GDF3(NM_020634.2):c.790T>C (p.C264R) - GDF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.796C>T r.(?) p.(Arg266Cys) Unknown - VUS g.7842773G>A g.7690177G>A GDF3(NM_020634.1):c.796C>T (p.(Arg266Cys)), GDF3(NM_020634.2):c.796C>T (p.R266C) - GDF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.796C>T r.(?) p.(Arg266Cys) Paternal (confirmed) - likely pathogenic g.7842773G>A g.7690177G>A c.796C-->T; p.Arg266Cys - GDF3_000003 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG blood - KFS3 190 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.796C>T r.(?) p.(Arg266Cys) Unknown - likely benign g.7842773G>A - GDF3(NM_020634.1):c.796C>T (p.(Arg266Cys)), GDF3(NM_020634.2):c.796C>T (p.R266C) - GDF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.820C>T r.(?) p.(Arg274Trp) Parent #1 - pathogenic g.7842749G>A g.7690153G>A - - GDF3_000011 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906946 Germline - 11/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
-?/. - c.820C>T r.(?) p.(Arg274Trp) Unknown - likely benign g.7842749G>A - GDF3(NM_020634.3):c.820C>T (p.(Arg274Trp)) - GDF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.914T>C r.(?) p.(Leu305Pro) Parent #1 - pathogenic g.7842655A>G g.7690059A>G - - GDF3_000010 22 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906945 Germline - 22/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 22 Mohammed Faruq
?/. - c.914T>C r.(?) p.(Leu305Pro) Unknown - VUS g.7842655A>G - GDF3(NM_020634.1):c.914T>C (p.(Leu305Pro)) - GDF3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.958G>A r.(?) p.(Val320Ile) Unknown - likely benign g.7842611C>T - GDF3(NM_020634.1):c.958G>A (p.(Val320Ile)) - GDF3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.974C>T r.(?) p.(Pro325Leu) Unknown - VUS g.7842595G>A g.7689999G>A GDF3(NM_020634.1):c.974C>T (p.(Pro325Leu)) - GDF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.974C>T r.(?) p.(Pro325Leu) Paternal (confirmed) - VUS (!) g.7842595G>A g.7689999G>A - - GDF3_000002 inherited from unaffected father PubMed: Prokudin 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - MCOP Fam11PatII1 PubMed: Prokudin 2014 2-generation family, 1 affected M - Australia India - - - - 1 Ivan Prokudin
-/. - c.982G>C r.(?) p.(Val328Leu) Unknown - benign g.7842587C>G g.7689991C>G GDF3(NM_020634.3):c.982G>C (p.V328L) - GDF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.996C>G r.(?) p.(Thr332=) Unknown - likely benign g.7842573G>C - GDF3(NM_020634.2):c.996C>G (p.T332=) - GDF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003T>A r.(?) p.(Ser335Thr) Unknown - VUS g.7842566A>T - GDF3(NM_020634.3):c.1003T>A (p.(Ser335Thr)) - GDF3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008C>T r.(?) p.(Pro336=) Unknown - likely benign g.7842561G>A - GDF3(NM_020634.2):c.1008C>T (p.P336=) - GDF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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