Full data view for gene ARHGAP29

Information The variants shown are described using the NM_004815.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-4147497_*827942del r.? p.? Unknown - pathogenic g.93811483_98850435del - - - DPYD_000017 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 F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.2T>C r.? p.(Met1?) Maternal (confirmed) ACMG VUS g.94697166A>G g.94231610A>G - - ARHGAP29_000034 Father with Cleft lip:nt carrier of variant, mother with small cutaneous depression at right upper lip as carrier Journal: Vikkula 2024 - - Germline - - - - - DNA SEQ-NG - WES cleft CLP-1309-3 Journal: Vikkula 2024 - M no - - - - - - 1 Miikka Vikkula
+/. 2 c.62_63del r.(?) p.(Ser21Tyrfs*2) Parent #1 - pathogenic g.94697109_94697110del g.94231553_94231554del 62_63del - ARHGAP29_000017 variant not in 1944 control chromosomes; variant present in unaffected sibling PubMed: Leslie 2012, Journal: Leslie 2012, PAH record 1 - - Germline - 1/720 cases - - - DNA SEQ - - CLP 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 2-generation family, 1 affected, heterozygous unaffected carrier sibling ? - Philippines - - - - - 2 Johan den Dunnen
-/. 2 c.76A>G r.(?) p.(Thr26Ala) Parent #1 - benign g.94697092T>C g.94231536T>C - - ARHGAP29_000018 not in 1944 control chromosomes; present in unaffected parent PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 1/720 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 2-generation family, 1 affected, unaffected heterozygous carrier parent ? - Philippines - - - - - 2 Johan den Dunnen
-/. 2 c.137A>G r.(?) p.(Lys46Arg) Parent #1 - benign g.94697031T>C g.94231475T>C - - ARHGAP29_000006 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 1/181 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 1 Johan den Dunnen
+?/. 10 c.888G>C r.(?) p.(Arg296Ser) Parent #1 - likely pathogenic g.94668540C>G g.94202984C>G - - ARHGAP29_000019 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 1/1032 control chromosomes - - - DNA SEQ - - - 23008150-controls PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 1 Johan den Dunnen
+/. - c.955-8C>A r.(=) p.(=) Unknown - pathogenic g.94668296G>T g.94202740G>T - - ARHGAP29_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.955-7G>A r.(=) p.(=) Unknown - VUS g.94668295C>T - ARHGAP29(NM_004815.3):c.955-7G>A (p.?) - ARHGAP29_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.976A>T r.(?) p.(Lys326*) Maternal (confirmed) - pathogenic g.94668267T>A g.94202711T>A - - ARHGAP29_000004 not in 1944 control chromosomes; variant carried by unaffected mother/grandfather PubMed: Leslie 2012, Journal: Leslie 2012, OMIM:var0001 - rs863225063 Germline no 1/901 cases - - - DNA SEQ - - CLP 23008150-Fam PubMed: Leslie 2012, Journal: Leslie 2012 3-generation family, 1 affected, heterozygous unaffected carrier mother/grandfather ? no Philippines - - - - - 3 Johan den Dunnen
?/. - c.1043G>A r.(?) p.(Arg348His) Unknown - VUS g.94668200C>T g.94202644C>T ARHGAP29(NM_004815.3):c.1043G>A (p.(Arg348His)) - ARHGAP29_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1112del r.(?) p.(Lys371Serfs*12) Paternal (confirmed) ACMG pathogenic g.94668137del g.94202581del - - ARHGAP29_000031 - Journal: Vikkula 2024 - - Germline yes - - - - DNA SEQ-NG - WES CLP CLP-860-3 Journal: Vikkula 2024 - M no - - - - - - 1 Miikka Vikkula
-?/. 12 c.1252A>G r.(?) p.(Val418Ile) Parent #1 - likely benign g.94667305T>C g.94201749T>C - - ARHGAP29_000005 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Leslie 2012, Journal: Leslie 2012 - rs148959325 Germline - 17/720 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 17 Johan den Dunnen
-?/. 12 c.1252A>G r.(?) p.(Val418Ile) Parent #1 - likely benign g.94667305T>C g.94201749T>C - - ARHGAP29_000005 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Leslie 2012, Journal: Leslie 2012 - rs148959325 Germline - 13/1032 control chromosomes - - - DNA SEQ - - - 23008150-controls PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 13 Johan den Dunnen
-?/. 12 c.1252A>G r.(?) p.(Val418Ile) Parent #1 - likely benign g.94667305T>C g.94201749T>C - - ARHGAP29_000005 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Leslie 2012, Journal: Leslie 2012 - rs148959325 Germline - 2/181 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 2 Johan den Dunnen
-?/. - c.1252G>A r.(?) p.(Val418Ile) Unknown - likely benign g.94667305C>T - ARHGAP29(NM_004815.4):c.1252G>A (p.V418I) - ARHGAP29_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1439+5G>A r.spl? p.? Unknown - likely pathogenic g.94655477C>T - - - ARHGAP29_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 14 c.1538T>C r.(?) p.Ile513Thr Unknown - NA g.94654810A>G g.94189254A>G - - ARHGAP29_000002 cDNA expression cloning and zebra fish embryo injections shows normal activity PubMed: Liu 2016, Journal: Liu 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 14 c.1538T>C r.(?) p.Ile513Thr Unknown - NA g.94654810A>G g.94189254A>G Ile513Thr - ARHGAP29_000002 cDNA expression cloning in iNHK cells (scratch assay) revealed normal migration PubMed: Liu 2016, Journal: Liu 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15 c.1654T>C r.(?) p.(Ser552Pro) Paternal (confirmed) - likely pathogenic g.94654420A>G g.94188864A>G - - ARHGAP29_000001 - PubMed: Liu 2016, Journal: Liu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - CLP 28029220-Fam PubMed: Liu 2016, Journal: Liu 2016 3-generation family, 8 affected (4F, 4M) F;M no Australia European - - - - 8 Azeez Butali
+/. 15 c.1654T>C r.(?) p.Ser552Pro Unknown - NA g.94654420A>G g.94188864A>G - - ARHGAP29_000001 cDNA expression cloning and zebra fish embryo injections shows reduced activity PubMed: Liu 2016, Journal: Liu 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1654T>C r.(?) p.Ser552Pro Unknown - NA g.94654420A>G g.94188864A>G - - ARHGAP29_000001 cDNA expression cloning in iNHK cells (scratch assay) revealed reduced migration PubMed: Liu 2016, Journal: Liu 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 17 c.1847G>A r.(?) p.(Arg616His) Parent #1 - likely benign g.94650971C>T g.94185415C>T - - ARHGAP29_000007 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 55/720 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 55 Johan den Dunnen
-?/. 17 c.1847G>A r.(?) p.(Arg616His) Parent #1 - likely benign g.94650971C>T g.94185415C>T - - ARHGAP29_000007 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 34/1032 control chromosomes - - - DNA SEQ - - - 23008150-controls PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 34 Johan den Dunnen
?/. 17 c.1865C>T r.(?) p.(Thr622Met) Parent #1 - VUS g.94650953G>A g.94185397G>A - - ARHGAP29_000008 not in 1944 control chromosomes PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 1/720 cases - - - DNA SEQ - - CLP 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 2-generation family, affected father/child ? - Philippines - - - - - 2 Johan den Dunnen
-?/. - c.1920+20G>C r.(=) p.(=) Unknown - likely benign g.94650878C>G - ARHGAP29(NM_004815.4):c.1920+20G>C - ARHGAP29_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.1939C>T r.(?) p.(Arg647*) Paternal (confirmed) ACMG likely pathogenic g.94650598G>A g.94185042G>A - - ARHGAP29_000032 - Journal: Vikkula 2024 - - Germline yes - - - - DNA SEQ-NG - WES CLP CLP-1399-3 Journal: Vikkula 2024 - F no - - - - - - 1 Miikka Vikkula
+?/. 18 c.2017T>G r.(?) p.(Phe673Val) Parent #1 - likely pathogenic g.94650520A>C g.94184964A>C - - ARHGAP29_000009 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 1/912 control chromosomes - - - DNA SEQ - - - 23008150-controls PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 1 Johan den Dunnen
?/. - c.2273G>A r.(?) p.(Arg758Gln) Unknown - VUS g.94645488C>T - ARHGAP29(NM_004815.3):c.2273G>A (p.(Arg758Gln)) - ARHGAP29_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 20 c.2393G>A r.(?) p.Arg798Gln Unknown - NA g.94645368C>T g.94179812C>T Arg798Gln - ARHGAP29_000003 cDNA expression cloning and zebra fish embryo injections shows normal activity PubMed: Liu 2016, Journal: Liu 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 20 c.2393G>A r.(?) p.Arg798Gln Unknown - NA g.94645368C>T g.94179812C>T Arg798Gln - ARHGAP29_000003 cDNA expression cloning in iNHK cells (scratch assay) revealed normal migration PubMed: Liu 2016, Journal: Liu 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 21 c.2494G>A r.(?) p.(Ala832Thr) Parent #1 - benign g.94643710C>T g.94178154C>T - - ARHGAP29_000010 not in 1944 control chromosomes; present in unaffected parent PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 1/720 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 2-generation family, 1 affected, unaffected heterozygous carrier parent ? - Philippines - - - - - 2 Johan den Dunnen
+?/. 21 c.2533A>G r.(?) p.(Ile845Val) Parent #1 - likely pathogenic g.94643671T>C g.94178115T>C - - ARHGAP29_000011 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 1/720 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 1 Johan den Dunnen
-?/. - c.2661T>C r.(?) p.(Asp887=) Unknown - likely benign g.94643543A>G g.94177987A>G ARHGAP29(NM_004815.4):c.2661T>C (p.D887=) - ARHGAP29_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2844A>C r.(?) p.(Thr948=) Unknown - likely benign g.94643229T>G g.94177673T>G ARHGAP29(NM_004815.4):c.2844A>C (p.T948=) - ARHGAP29_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.2864G>A r.(?) p.(Arg955His) Parent #1 - likely pathogenic g.94643209C>T g.94177653C>T - - ARHGAP29_000012 - PubMed: Leslie 2012, Journal: Leslie 2012 - rs113546321 Germline - 1/181 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.2864G>A r.(?) p.(Arg955His) Parent #1 - likely pathogenic g.94643209C>T g.94177653C>T - - ARHGAP29_000012 - PubMed: Leslie 2012, Journal: Leslie 2012 - rs113546321 Germline - 1/912 control chromosomes - - - DNA SEQ - - - 23008150-controls PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 1 Johan den Dunnen
-?/. - c.2905+8G>A r.(=) p.(=) Unknown - likely benign g.94643160C>T g.94177604C>T ARHGAP29(NM_004815.3):c.2905+8G>A (p.(=)) - ARHGAP29_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 23 c.3023G>A r.(?) p.(Arg1008Lys) Parent #1 - likely pathogenic g.94640188C>T g.94174632C>T - - ARHGAP29_000013 - PubMed: Leslie 2012, Journal: Leslie 2012 - rs140638899 Germline - 1/912 control chromosomes - - - DNA SEQ - - - 23008150-controls PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 1 Johan den Dunnen
+?/. 23 c.3170del r.(?) p.(Asn1057Ilefs*34) Maternal (confirmed) ACMG likely pathogenic g.94640042del g.94174486del - - ARHGAP29_000033 - Journal: Vikkula 2024 - - Germline no - - - - DNA SEQ-NG - - CLP CLP-1251-3 Journal: Vikkula 2024 - F no - - - - - - 1 Miikka Vikkula
-?/. - c.3422G>C r.(?) p.(Arg1141Thr) Unknown - likely benign g.94639789C>G - ARHGAP29(NM_004815.3):c.3422G>C (p.(Arg1141Thr)) - ARHGAP29_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 23 c.3425G>A r.(?) p.(Arg1142Gln) Parent #1 - benign g.94639786C>T g.94174230C>T - - ARHGAP29_000014 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 1/181 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 1 Johan den Dunnen
-/. 23 c.3604G>T r.(?) p.(Val1202Leu) Parent #1 - benign g.94639607C>A g.94174051C>A - - ARHGAP29_000015 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 18/720 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 18 Johan den Dunnen
-/. 23 c.3604G>T r.(?) p.(Val1202Leu) Parent #1 - benign g.94639607C>A g.94174051C>A - - ARHGAP29_000015 - PubMed: Leslie 2012, Journal: Leslie 2012 - - Germline - 8/1032 control chromosomes - - - DNA SEQ - - - 23008150-controls PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 8 Johan den Dunnen
-/. 23 c.3764G>A r.(?) p.(Gly1255Asp) Parent #1 - benign g.94639447C>T g.94173891C>T - - ARHGAP29_000016 - PubMed: Leslie 2012, Journal: Leslie 2012 - rs1999272 Germline - 1/720 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - Philippines - - - - - 1 Johan den Dunnen
-/. 23 c.3764G>A r.(?) p.(Gly1255Asp) Parent #1 - benign g.94639447C>T g.94173891C>T - - ARHGAP29_000016 - PubMed: Leslie 2012, Journal: Leslie 2012 - rs1999272 Germline - 2/181 cases - - - DNA SEQ - - ? 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 2 Johan den Dunnen
-/. 23 c.3764G>A r.(?) p.(Gly1255Asp) Parent #1 - benign g.94639447C>T g.94173891C>T - - ARHGAP29_000016 - PubMed: Leslie 2012, Journal: Leslie 2012 - rs1999272 Germline - 1/912 control chromosomes - - - DNA SEQ - - - 23008150-controls PubMed: Leslie 2012, Journal: Leslie 2012 - ? - United States - - - - - 1 Johan den Dunnen
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