All variants in the ARHGEF6 gene

Information The variants shown are described using the NM_004840.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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.166-11T>C r.(=) p.(=) - likely benign g.135861667A>G g.136779508A>G ARHGEF6(NM_004840.2):c.166-11T>C - ARHGEF6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.169T>C r.(?) p.(Cys57Arg) - likely benign g.135861653A>G g.136779494A>G ARHGEF6(NM_004840.2):c.169T>C (p.C57R) - ARHGEF6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.250-95_250-93dup r.(=) p.(=) - VUS g.135829862_135829864dup g.136747703_136747705dup - - ARHGEF6_000006 - - - - Germline - - - - - Yu Sun
?/. - c.250-93dup r.(=) p.(=) - VUS g.135829864dup g.136747705dup - - ARHGEF6_000005 - - - - Germline - - - - - Yu Sun
?/. - c.250-93dup r.(=) p.(=) - VUS g.135829864dup g.136747705dup - - ARHGEF6_000009 - - - - Germline - - - - - Yu Sun
-?/. - c.250-4A>G r.spl? p.? - likely benign g.135829755T>C g.136747596T>C ARHGEF6(NM_004840.2):c.250-4A>G - ARHGEF6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.262G>C r.(?) p.(Asp88His) - likely benign g.135829739C>G g.136747580C>G ARHGEF6(NM_004840.2):c.262G>C (p.D88H) - ARHGEF6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.293A>C r.(?) p.(Lys98Thr) - VUS g.135829708T>G g.136747549T>G ARHGEF6(NM_004840.2):c.293A>C (p.(Lys98Thr)) - ARHGEF6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.362G>A r.(?) p.(Arg121His) - likely benign g.135827479C>T g.136745320C>T ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.362G>A r.(?) p.(Arg121His) - benign g.135827479C>T g.136745320C>T ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.362G>A r.(?) p.(Arg121His) - likely benign g.135827479C>T g.136745320C>T ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.362G>A r.(?) p.(Arg121His) - VUS g.135827479C>T g.136745320C>T - - ARHGEF6_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.362G>A r.(?) p.(Arg121His) - benign g.135827479C>T g.136745320C>T ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.451_452del r.(?) p.(Lys151AspfsTer21) - VUS g.135827390_135827391del g.136745231_136745232del - - ARHGEF6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.540A>G r.(?) p.(Ser180=) - benign g.135825865T>C g.136743706T>C ARHGEF6(NM_004840.2):c.540A>G (p.S180=) - ARHGEF6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.553G>A r.(?) p.(Asp185Asn) - VUS g.135825852C>T g.136743693C>T ARHGEF6(NM_004840.2):c.553G>A (p.(Asp185Asn)) - ARHGEF6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.571C>T r.(?) p.(Arg191Ter) - VUS g.135825834G>A g.136743675G>A ARHGEF6(NM_004840.2):c.571C>T (p.R191*) - ARHGEF6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.684C>T r.(?) p.(Ala228=) - likely benign g.135814309G>A g.136732150G>A ARHGEF6(NM_004840.2):c.684C>T (p.A228=) - ARHGEF6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.685G>A r.(?) p.(Val229Ile) - likely benign g.135814308C>T g.136732149C>T ARHGEF6(NM_004840.2):c.685G>A (p.V229I, p.(Val229Ile)) - ARHGEF6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.685G>A r.(?) p.(Val229Ile) - likely benign g.135814308C>T g.136732149C>T ARHGEF6(NM_004840.2):c.685G>A (p.V229I, p.(Val229Ile)) - ARHGEF6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.745A>G r.(?) p.(Ile249Val) - likely benign g.135795517T>C g.136713358T>C ARHGEF6(NM_004840.2):c.745A>G (p.I249V) - ARHGEF6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.801C>A r.(?) p.(Tyr267Ter) - likely pathogenic g.135795461G>T g.136713302G>T - - ARHGEF6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.891G>T r.(?) p.(Gln297His) - benign g.135790866C>A g.136708707C>A ARHGEF6(NM_004840.2):c.891G>T (p.(Gln297His)) - ARHGEF6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.891G>T r.(?) p.(Gln297His) - likely benign g.135790866C>A g.136708707C>A - - ARHGEF6_000034 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5974620 Germline - 1/2788 individuals - 0 - Mohammed Faruq
?/. - c.992A>G r.(?) p.(Tyr331Cys) - VUS g.135789121T>C g.136706962T>C ARHGEF6(NM_004840.2):c.992A>G (p.(Tyr331Cys)) - ARHGEF6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.992A>G r.(?) p.(Tyr331Cys) - VUS g.135789121T>C g.136706962T>C - - ARHGEF6_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
+?/. - c.1170A>C r.(?) p.(Leu390Phe) - likely pathogenic g.135772784T>G g.136690625T>G - - ARHGEF6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1190C>G r.(?) p.(Thr397Ser) - likely benign g.135770146G>C g.136687987G>C ARHGEF6(NM_004840.2):c.1190C>G (p.T397S) - ARHGEF6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1223T>C r.(?) p.(Ile408Thr) - VUS g.135770113A>G g.136687954A>G ARHGEF6(NM_004840.2):c.1223T>C (p.(Ile408Thr)) - ARHGEF6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1385C>T r.(?) p.(Ala462Val) - likely benign g.135767843G>A g.136685684G>A ARHGEF6(NM_004840.2):c.1385C>T (p.A462V) - ARHGEF6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1392+72dup r.(=) p.(=) - VUS g.135767781dup g.136685622dup - - ARHGEF6_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1392+72dup r.(=) p.(=) - VUS g.135767781dup g.136685622dup - - ARHGEF6_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1392+73del r.(=) p.(=) - VUS g.135767763del g.136685604del - - ARHGEF6_000008 - - - - Germline - - - - - Yu Sun
-?/. - c.1406G>A r.(?) p.(Arg469Gln) - likely benign g.135764990C>T g.136682831C>T ARHGEF6(NM_004840.2):c.1406G>A (p.R469Q) - ARHGEF6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1480-3T>C r.spl? p.? - benign g.135764130A>G g.136681971A>G ARHGEF6(NM_004840.2):c.1480-3T>C (, p.?) - ARHGEF6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1480-3T>C r.spl? p.? - VUS g.135764130A>G g.136681971A>G ARHGEF6(NM_004840.2):c.1480-3T>C (, p.?) - ARHGEF6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1503G>A r.(?) p.(Thr501=) - likely benign g.135764104C>T - ARHGEF6(NM_004840.2):c.1503G>A (p.T501=) - ARHGEF6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1574G>C r.(?) p.(Arg525Thr) - VUS g.135763020C>G g.136680861C>G ARHGEF6(NM_004840.2):c.1574G>C (p.R525T) - ARHGEF6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1720G>A r.(?) p.(Gly574Arg) - VUS g.135761804C>T g.136679645C>T ARHGEF6(NM_004840.2):c.1720G>A (p.G574R) - ARHGEF6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1730G>A r.(?) p.(Arg577Gln) - VUS g.135761794C>T - ARHGEF6(NM_004840.2):c.1730G>A (p.R577Q) - ARHGEF6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1736C>A r.(?) p.(Pro579His) - VUS g.135761788G>T g.136679629G>T - - ARHGEF6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1946-400G>A r.(=) p.(=) - VUS g.135757655C>T g.136675496C>T - - ARHGEF6_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.2001C>T r.(?) p.(Cys667=) - likely benign g.135757200G>A g.136675041G>A ARHGEF6(NM_004840.2):c.2001C>T (p.C667=) - ARHGEF6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2003C>G r.(?) p.(Thr668Ser) - VUS g.135757198G>C g.136675039G>C ARHGEF6(NM_004840.2):c.2003C>G (p.T668S) - ARHGEF6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2062G>A r.(?) p.(Val688Ile) - likely benign g.135754252C>T g.136672093C>T ARHGEF6(NM_004840.2):c.2062G>A (p.V688I) - ARHGEF6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2089A>G r.(?) p.(Ile697Val) - VUS g.135754225T>C g.136672066T>C ARHGEF6(NM_004840.2):c.2089A>G (p.(Ile697Val)) - ARHGEF6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2093T>C r.(?) p.(Ile698Thr) - VUS g.135754221A>G g.136672062A>G ARHGEF6(NM_004840.2):c.2093T>C (p.I698T) - ARHGEF6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2093T>C r.(?) p.(Ile698Thr) - VUS g.135754221A>G g.136672062A>G ARHGEF6(NM_004840.2):c.2093T>C (p.I698T) - ARHGEF6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2112C>T r.(?) p.(Asn704=) - likely benign g.135754202G>A g.136672043G>A ARHGEF6(NM_004840.2):c.2112C>T (p.N704=) - ARHGEF6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2145T>C r.(?) p.(Val715=) - likely benign g.135751686A>G g.136669527A>G ARHGEF6(NM_004840.2):c.2145T>C (p.V715=) - ARHGEF6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2191-367_2191-365del r.(=) p.(=) - VUS g.135750716_135750718del g.136668557_136668559del - - ARHGEF6_000007 - - - - Germline - - - - - Yu Sun
-?/. - c.2215C>A r.(?) p.(Leu739Met) - likely benign g.135750304G>T g.136668145G>T ARHGEF6(NM_004840.2):c.2215C>A (p.L739M) - ARHGEF6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2229G>C r.(?) p.(Leu743=) - likely benign g.135750290C>G - ARHGEF6(NM_004840.2):c.2229G>C (p.L743=) - ARHGEF6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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