All variants in the ARHGAP6 gene

Information The variants shown are described using the NM_013427.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.-127T>C r.(?) p.(=) - VUS g.11683075A>G g.11664955A>G - - ARHGAP6_000001 - - - - Germline - - - - - Yu Sun
?/. - c.-127T>C r.(?) p.(=) - VUS g.11683075A>G g.11664955A>G - - ARHGAP6_000001 - - - - Germline - - - - - Yu Sun
?/. _1_13_ c.(-1_*1)::[NM_001101802.1:(-1_*1) r.? p.? - VUS g.pter_(11156982_11682949)delins[NC_000011.9:pter_(45955518_46105771)] - - t(X;11)(p22.3;p12) ARHGAP6_000032 - PubMed: Fantes 2008 - - De novo - - - 0 - Johan den Dunnen
?/. - c.329A>G r.(?) p.(Gln110Arg) - VUS g.11682620T>C g.11664500T>C ARHGAP6(NM_006125.2):c.329A>G (p.(Gln110Arg)) - ARHGAP6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.479G>T r.(?) p.(Gly160Val) - likely benign g.11682470C>A g.11664350C>A ARHGAP6(NM_013427.2):c.479G>T (p.G160V) - ARHGAP6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.589-45895A>G r.(=) p.(=) - likely benign g.11318722T>C g.11300602T>C AMELX(NM_182680.1):c.613-5T>C - ARHGAP6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.589-44235G>T r.(=) p.(=) - likely benign g.11317062C>A g.11298942C>A AMELX(NM_001142.2):c.539C>A (p.(Pro180Gln)) - ARHGAP6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.589-44190T>C r.(=) p.(=) - VUS g.11317017A>G g.11298897A>G AMELX(NM_182680.1):c.536A>G (p.Q179R) - ARHGAP6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.589-44132C>A r.(=) p.(=) - benign g.11316959G>T g.11298839G>T AMELX(NM_182680.1):c.478G>T (p.V160L) - ARHGAP6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.589-44126del r.(=) p.(=) - VUS g.11316954del g.11298834del AMELX(NM_182680.1):c.472del (p.?) - ARHGAP6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.589-44111G>C r.(=) p.(=) - VUS g.11316938C>G - AMELX(NM_182680.1):c.457C>G (p.P153A) - ARHGAP6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.589-44062G>A r.(=) p.(=) - likely benign g.11316889C>T - AMELX(NM_182680.1):c.408C>T (p.P136=) - ARHGAP6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.589-43915G>A r.(=) p.(=) - likely benign g.11316742C>T g.11298622C>T H87H - ARHGAP6_000036 recurrent, found 30 times PubMed: Tarpey 2009 - - Germline - 30/208 cases - 0 - Lucy Raymond
?/. - c.589-43881T>C r.(=) p.(=) - VUS g.11316708A>G g.11298588A>G - - ARHGAP6_000035 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.589-43867C>T r.(=) p.(=) - VUS g.11316694G>A g.11298574G>A AMELX(NM_182680.1):c.213G>A (p.M71I) - ARHGAP6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.589-40200A>G r.(=) p.(=) - VUS g.11313027T>C g.11294907T>C - - ARHGAP6_000009 - - - - Germline - - - - - Yu Sun
?/. - c.589-40200A>G r.(=) p.(=) - VUS g.11313027T>C g.11294907T>C - - AMELX_000001 - - - - Germline - - - - - Yu Sun
?/. - c.589-10998C>T r.(=) p.(=) - VUS g.11283825G>A g.11265705G>A - - ARHGAP6_000006 - - - - Germline - - - - - Yu Sun
?/. - c.589-10998C>T r.(=) p.(=) - VUS g.11283825G>A g.11265705G>A - - ARHGAP6_000006 - - - - Germline - - - - - Yu Sun
?/. - c.589-8del r.(=) p.(=) - VUS g.11272836del g.11254716del - - ARHGAP6_000013 - - - - Germline - - - - - Yu Sun
?/. - c.589-8del r.(=) p.(=) - VUS g.11272836del g.11254716del - - ARHGAP6_000013 - - - - Germline - - - - - Yu Sun
?/. - c.748+26748del r.(=) p.(=) - VUS g.11245920del g.11227800del - - ARHGAP6_000012 - - - - Germline - - - - - Yu Sun
-?/. - c.897C>T r.(?) p.(Asp299=) - likely benign g.11207028G>A - ARHGAP6(NM_013427.2):c.897C>T (p.D299=) - ARHGAP6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.910G>A r.(?) p.(Glu304Lys) - VUS g.11207015C>T g.11188895C>T ARHGAP6(NM_006125.2):c.910G>A (p.(Glu304Lys)) - ARHGAP6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.949C>A r.(?) p.(Pro317Thr) - VUS g.11206976G>T g.11188856G>T ARHGAP6(NM_013427.2):c.949C>A (p.P317T) - ARHGAP6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1034C>T r.(?) p.(Thr345Met) - VUS g.11206891G>A g.11188771G>A ARHGAP6(NM_006125.2):c.1034C>T (p.(Thr345Met)) - ARHGAP6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1035G>A r.(?) p.(Thr345=) - likely benign g.11206890C>T - ARHGAP6(NM_013427.2):c.1035G>A (p.T345=) - ARHGAP6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1329+112dup r.(=) p.(=) - VUS g.11200085dup g.11181965dup - - ARHGAP6_000011 - - - - Germline - - - - - Yu Sun
?/. - c.1330-178_1330-177del r.(=) p.(=) - VUS g.11197751_11197752del g.11179631_11179632del - - ARHGAP6_000016 - - - - Germline - - - - - Yu Sun
?/. - c.1355T>C r.(?) p.(Ile452Thr) - VUS g.11197547A>G g.11179427A>G ARHGAP6(NM_013427.2):c.1355T>C (p.I452T) - ARHGAP6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1455G>A r.(?) p.(Leu485=) - likely benign g.11197447C>T - ARHGAP6(NM_013427.2):c.1455G>A (p.L485=) - ARHGAP6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1600G>A r.(?) p.(Asp534Asn) - likely benign g.11196249C>T g.11178129C>T ARHGAP6(NM_006125.2):c.1600G>A (p.(Asp534Asn)) - ARHGAP6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1630-88del r.(=) p.(=) - VUS g.11187893del g.11169773del - - ARHGAP6_000015 - - - - Germline - - - - - Yu Sun
?/. - c.1739G>A r.(?) p.(Arg580Gln) - VUS g.11187695C>T g.11169575C>T ARHGAP6(NM_006125.2):c.1739G>A (p.(Arg580Gln)), ARHGAP6(NM_013427.2):c.1739G>A (p.R580Q) - ARHGAP6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1739G>A r.(?) p.(Arg580Gln) - VUS g.11187695C>T g.11169575C>T ARHGAP6(NM_006125.2):c.1739G>A (p.(Arg580Gln)), ARHGAP6(NM_013427.2):c.1739G>A (p.R580Q) - ARHGAP6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2177A>T r.(?) p.(Asp726Val) - VUS g.11160433T>A g.11142313T>A ARHGAP6(NM_013423.2):c.1568A>T (p.?) - ARHGAP6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2191C>A r.(?) p.(Pro731Thr) - likely benign g.11160419G>T g.11142299G>T ARHGAP6(NM_006125.2):c.*1559C>A (p.(=)) - ARHGAP6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2289C>A r.(=) p.(=) - likely benign g.11157619G>T g.11139499G>T S763S - ARHGAP6_000034 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.2373C>G r.(?) p.(Asp791Glu) - VUS g.11157535G>C g.11139415G>C - - ARHGAP6_000033 recurrent, found 34 times PubMed: Tarpey 2009 - - Germline - 34/208 cases - 0 - Lucy Raymond
-?/. - c.2502G>A r.(?) p.(Thr834=) - likely benign g.11157406C>T g.11139286C>T ARHGAP6(NM_013427.2):c.2502G>A (p.T834=) - ARHGAP6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2698C>T r.(?) p.(Pro900Ser) - likely benign g.11157210G>A g.11139090G>A ARHGAP6(NM_013427.2):c.2698C>T (p.P900S) - ARHGAP6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2750G>A r.(?) p.(Arg917Gln) - VUS g.11157158C>T g.11139038C>T ARHGAP6(NM_006125.2):c.*4820G>A (p.(=)) - ARHGAP6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2754G>T r.(?) p.(Glu918Asp) - likely benign g.11157154C>A g.11139034C>A ARHGAP6(NM_006125.2):c.*4824G>T (p.(=)) - ARHGAP6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query