Full data view for gene DVL3

Information The variants shown are described using the NM_004423.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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>G r.(?) p.(Met1?) Unknown - VUS g.183873424A>G - DVL3(NM_004423.4):c.1A>G (p.M1?) - DVL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5G>C r.(?) p.(Gly2Ala) Unknown - likely benign g.183873428G>C - DVL3(NM_004423.4):c.5G>C (p.(Gly2Ala)) - DVL3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+1013C>A r.(=) p.(=) Unknown - likely benign g.183874597C>A - DVL3(NM_004423.4):c.161+1013C>A - DVL3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.217C>T r.(?) p.(Arg73Trp) Unknown - VUS g.183881500C>T - - - DVL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.222_223del r.(?) p.(Ser76Leufs*6) Unknown - VUS g.183881505_183881506del - DVL3(NM_004423.4):c.222_223del (p.(Ser76Leufs*6)) - DVL3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.338G>A r.(?) p.(Arg113Gln) Unknown - likely benign g.183882161G>A - DVL3(NM_004423.4):c.338G>A (p.(Arg113Gln)) - DVL3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.354-1G>T r.spl p.? Unknown ACMG VUS g.183882279G>T g.184164491G>T - - DVL3_000023 ACMG/AMP: PVS1_moderate, PM2_supporting; spliceAI predicts in-frame deletion of first 7 AA from exon 4. Established pathomechanism in DVL3 are frameshifting variants in the NMD-escaping 3´end of the gene. - VCV002654305.19 - Germline ? - - - - DNA SEQ-NG-I Blood - DRS3 357975 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.367G>A r.(?) p.(Gly123Arg) Unknown - VUS g.183882293G>A g.184164505G>A - - DVL3_000008 ACMG BP1, PS2, PP3 PubMed: Rai 2021 - - De novo - - - - - DNA SEQ-NG - WES RRS Pat3 PubMed: Rai 2021 3-generation family, 1 affected, unaffected non-carrier parents F - India - - - - - 1 Johan den Dunnen
-?/. - c.673_675del r.(?) p.(Lys225del) Unknown - likely benign g.183882974_183882976del - DVL3(NM_004423.4):c.673_675del (p.(Lys225del)) - DVL3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737A>G r.(?) p.(Asn246Ser) Unknown - likely benign g.183883253A>G - DVL3(NM_004423.4):c.737A>G (p.(Asn246Ser)) - DVL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783C>T r.(?) p.(=) Unknown - likely benign g.183883933C>T - DVL3(NM_004423.4):c.783C>T (p.(Gly261=)) - DVL3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031G>A r.(?) p.(Cys344Tyr) Unknown - likely benign g.183884444G>A - DVL3(NM_004423.4):c.1031G>A (p.(Cys344Tyr)) - DVL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093A>C r.(?) p.(Thr365Pro) Unknown - VUS g.183884658A>C - DVL3(NM_004423.4):c.1093A>C (p.(Thr365Pro)) - DVL3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1198+17G>A r.(=) p.(=) Unknown - likely benign g.183884780G>A - DVL3(NM_004423.4):c.1198+17G>A - DVL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1222A>T r.(?) p.(Ile408Phe) Unknown - VUS g.183885391A>T - DVL3(NM_004423.4):c.1222A>T (p.(Ile408Phe)) - DVL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432C>T r.(?) p.(Arg478Cys) Unknown - VUS g.183885787C>T - - - DVL3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1441G>A r.(?) p.(Val481Ile) Unknown - VUS g.183885796G>A - DVL3(NM_004423.4):c.1441G>A (p.(Val481Ile)) - DVL3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1477A>G r.(?) p.(Ile493Val) Unknown - likely benign g.183885832A>G g.184168044A>G DVL3(NM_004423.3):c.1477A>G (p.(Ile493Val)), DVL3(NM_004423.4):c.1477A>G (p.I493V) - DVL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1477A>G r.(?) p.(Ile493Val) Unknown - benign g.183885832A>G - DVL3(NM_004423.3):c.1477A>G (p.(Ile493Val)), DVL3(NM_004423.4):c.1477A>G (p.I493V) - DVL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1585del r.(?) p.(Ala529Profs*139) Paternal (confirmed) - pathogenic g.183887880del g.184170092del - - DVL3_000003 - PubMed: White 2016, Journal: White 2016 - - Germline yes - - - - DNA SEQ - - DRS 26924530 BAB7990 PubMed: White 2016, Journal: White 2016 2-generation family, affected father/daughter F - - white >14y - - - 2 Pieter Klap
+/. - c.1585del r.(?) p.(Ala529Profs*139) Paternal (confirmed) - pathogenic (dominant) g.183887880del g.184170092del - - DVL3_000003 - PubMed: White 2016 - - Germline - - - - - DNA SEQ - WES RRS BAB7990 PubMed: White 2016 family, affected father/daughter; daughter F - - - - - - - 2 Johan den Dunnen
?/. - c.1631C>T r.(?) p.(Pro544Leu) Unknown - VUS g.183887926C>T - DVL3(NM_004423.3):c.1631C>T (p.(Pro544Leu)) - AP2M1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1691G>C r.(?) p.(Ser564Thr) Unknown - likely benign g.183887986G>C g.184170198G>C - - AP2M1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1714+6G>A r.(=) p.(=) Unknown - benign g.183888015G>A g.184170227G>A - - AP2M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1714+9G>A r.(=) p.(=) Unknown - likely benign g.183888018G>A g.184170230G>A - - AP2M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1715-2A>G r.spl p.? Unknown - pathogenic (dominant) g.183888105A>G g.184170317A>G - - DVL3_000006 - PubMed: White 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - WES RRS BAB7985 PubMed: White 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1715-1G>A r.spl? p.? Unknown - pathogenic g.183888106G>A g.184170318G>A - - DVL3_000004 - PubMed: White 2016, Journal: White 2016 - - De novo - - - - - DNA SEQ - - DRS 26924530 BAB7982 PubMed: White 2016, Journal: White 2016 - M - - white >12y - - - 1 Pieter Klap
+/. - c.1715-1G>A r.spl p.? Unknown - pathogenic (dominant) g.183888106G>A g.184170318G>A - - DVL3_000004 - PubMed: White 2016 - - De novo - - - - - DNA SEQ - WES RRS BAB7982 PubMed: White 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1716del r.1716del p.Ser573Valfs*95 Unknown - pathogenic g.183888108del g.184170320del - - DVL3_000002 - PubMed: White 2016, Journal: White 2016 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - DRS 26924530 BAB4569 PubMed: White 2016, Journal: White 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - white >35y - - - 1 Pieter Klap
+/. - c.1716del r.(?) p.(Ser573Valfs*95) Unknown - pathogenic (dominant) g.183888108del g.184170320del - - DVL3_000002 - PubMed: White 2016 - - De novo - - - - - DNA SEQ - WES RRS BAB4569 PubMed: White 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1749del r.(?) p.(Ser583Argfs*85) Maternal (confirmed) - pathogenic g.183888141del g.184170353del - - DVL3_000001 - PubMed: White 2016, Journal: White 2016 - - Germline yes - - - - DNA SEQ - - DRS 26924530-Pat015902 PubMed: White 2016, Journal: White 2016 2-generation family, affected mother/daughter; daughter F - - white >38y - - - 2 Pieter Klap
+/. - c.1749del r.(?) p.(Ser583Argfs*85) Maternal (confirmed) - pathogenic (dominant) g.183888141del g.184170353del - - DVL3_000001 - PubMed: White 2016 - - Germline - - - - - DNA SEQ - WES RRS 15902 PubMed: White 2016 family, affected mother/daughter; daughter F - - - - - - - 2 Johan den Dunnen
?/. - c.1844_1852dup r.(?) p.(Gly615_Arg617dup) Unknown - VUS g.183888236_183888244dup - DVL3(NM_004423.4):c.1844_1852dup (p.(Gly615_Arg617dup)) - AP2M1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1978C>A r.(?) p.(Pro660Thr) Unknown - VUS g.183888370C>A - DVL3(NM_004423.4):c.1978C>A (p.P660T) - AP2M1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2013_2045del r.(?) p.(Pro673_Pro683del) Unknown - VUS g.183888405_183888437del - DVL3(NM_004423.4):c.2013_2045del (p.P673_P683del) - AP2M1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2143G>A r.(?) p.(Val715Met) Unknown - VUS g.183888535G>A - DVL3(NM_004423.4):c.2143G>A (p.V715M) - AP2M1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6194A>G r.(=) p.(=) Unknown - VUS g.183894737A>G - AP2M1(NM_004068.4):c.-43-2A>G - AP2M1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6312G>C r.(=) p.(=) Unknown - likely benign g.183894855G>C - AP2M1(NM_004068.3):c.74G>C (p.(Gly25Ala)) - AP2M1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7459G>A r.(=) p.(=) Unknown - likely benign g.183896002G>A - AP2M1(NM_001311198.2):c.144-4G>A - AP2M1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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