All variants in the GP1BB gene

Information The variants shown are described using the NM_000407.4 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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.-871806_*2118575dup r.? p.? - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. - c.-822054_*1752132del r.0? p.0? - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. - c.-817530_*1752132del r.0? p.0? - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. - c.-687930_*1752132del r.0? p.0? - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.-3909G>A r.(?) p.(=) - likely benign g.19707184G>A - SEPT5(NM_001009939.2):c.141G>A (p.S47=) - GP1BB_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-3368C>T r.(?) p.(=) - VUS g.19707725C>T - SEPT5(NM_001009939.2):c.353C>T (p.T118M) - GP1BB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-1262del r.(?) p.(=) - VUS g.19709831del g.19722308del SEPT5(NM_001009939.2):c.1038delC (p.*347Efs*29) - GP1BB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. _1 c.-160C>G r.0? p.0? - pathogenic (recessive) g.19710933C>G g.19723410C>G -133C>G - GP1BB_000041 variant in GATA binding site promoter; in vitro analysis shows 0.84 decreased activity PubMed: Ludlow 1996 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19700000)_(19713000_?)del - - - GP1BB_000040 deletion SEPT5 and GP1BB genes PubMed: Bartsch 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_18895227)_(21431054_?)del - - - GP1BB_000040 - PubMed: Kunishima 2013 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_18895227)_(21461607_?)del - - - GP1BB_000040 - PubMed: Kunishima 2013 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19711066)_(19712297_?)del - - - GP1BB_000040 - PubMed: Tang 2004 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19711066)_(19712297_?)del - - - GP1BB_000040 - PubMed: Kenny 1999 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19711066)_(19712297_?)del - - - GP1BB_000040 - PubMed: Hilmann 2002, PubMed: Nurden 2003 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19711066)_(19712297_?)del - - - GP1BB_000040 - PubMed: Ludlow 1996 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 2 c.47T>C r.(?) p.(Leu16Pro) - pathogenic (recessive) g.19711413T>C g.19723890T>C - - GP1BB_000002 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.53_65del r.(?) p.(Pro18Argfs*23) - pathogenic (recessive) g.19711419_19711431del g.19723896_19723908del - - GP1BB_000001 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.53_65del r.(?) p.(Pro18Argfs*23) - pathogenic (recessive) g.19711419_19711431del g.19723896_19723908del - - GP1BB_000001 - PubMed: Strassel 2004 - - Germline - - - 0 - Anna Savoia
+/. 2 c.53_65del r.(?) p.(Pro18Argfs*23) - pathogenic (recessive) g.19711419_19711431del g.19723896_19723908del - - GP1BB_000001 - PubMed: Watanable 2003 - - Germline - - - 0 - Anna Savoia
?/. - c.65C>T r.(?) p.(Pro22Leu) - VUS g.19711431C>T - GP1BB(NM_000407.4):c.65C>T (p.P22L) - GP1BB_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 2 c.89G>A r.(?) p.(Cys30Tyr) - VUS g.19711455G>A g.19723932G>A - - GP1BB_000007 - PubMed: Gonzalez-Manchon 2003 - - Germline - - - 0 - Anna Savoia
+/. 2 c.96C>A r.(?) p.(Cys32*) - pathogenic (recessive) g.19711462C>A g.19723939C>A - - GP1BB_000030 - PubMed: Ali 2013 - - Germline - - - 0 - Anna Savoia
+/. 2 c.96C>A r.(?) p.(Cys32*) - pathogenic (recessive) g.19711462C>A g.19723939C>A - - GP1BB_000030 - PubMed: Ali 2013 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14) - pathogenic (recessive) g.19711490_19711511del g.19723967_19723988del - - GP1BB_000003 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.127G>T r.(?) p.(Gly43Trp) - pathogenic (recessive) g.19711493G>T g.19723970G>T - - GP1BB_000004 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+?/. - c.127G>T r.(?) p.(Gly43Trp) - likely pathogenic g.19711493G>T - GP1BB(NM_000407.4):c.127G>T (p.G43W) - GP1BB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.137G>A r.(?) p.(Trp46*) - pathogenic (recessive) g.19711503G>A g.19723980G>A - - GP1BB_000031 - PubMed: Moran 2000 - - Germline - - - 0 - Anna Savoia
+/. 2 c.138G>A r.(?) p.(Trp46*) - pathogenic (recessive) g.19711504G>A g.19723981G>A - - GP1BB_000032 - PubMed: Ali 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.143C>A r.(?) p.(Ser48*) - pathogenic (recessive) g.19711509C>A g.19723986C>A - - GP1BB_000015 - PubMed: Hadjkacem 2010 - - Germline - - - 0 - Anna Savoia
+/. 2 c.143C>A r.(?) p.(Ser48*) - pathogenic (recessive) g.19711509C>A g.19723986C>A - - GP1BB_000015 - PubMed: Hadjkacem 2009, PubMed: Hadjkacem 2010 - - Germline - - - 0 - Anna Savoia
+/. 2 c.143C>A r.(?) p.(Ser48*) - pathogenic (recessive) g.19711509C>A g.19723986C>A - - GP1BB_000015 - PubMed: Hadjkacem 2010 - - Germline - - - 0 - Anna Savoia
+/. 2 c.161C>T r.(?) p.(Pro54Leu) - pathogenic (recessive) g.19711527C>T g.19724004C>T - - GP1BB_000033 - PubMed: Hilmann 2002, PubMed: Nurden 2003 - - Germline - - - 0 - Anna Savoia
+/. 2 c.227A>G r.(?) p.(Asp76Gly) - pathogenic (recessive) g.19711593A>G g.19724070A>G - - GP1BB_000023 - PubMed: Hadjkacem 2010 - - Germline - - - 0 - Anna Savoia
+/. 2 c.233T>G r.(?) p.(Leu78Arg) - pathogenic (recessive) g.19711599T>G g.19724076T>G - - GP1BB_000005 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.233T>G r.(?) p.(Leu78Arg) - pathogenic (recessive) g.19711599T>G g.19724076T>G - - GP1BB_000005 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
?/. - c.238G>C r.(?) p.(Ala80Pro) - VUS g.19711604G>C g.19724081G>C - - GP1BB_000039 - PubMed: Hadjkacem 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.244C>T r.(?) p.(Arg82Cys) - pathogenic (recessive) g.19711610C>T g.19724087C>T - - GP1BB_000024 - PubMed: Sato 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.265A>G r.(?) p.(Asn89Asp) - pathogenic (recessive) g.19711631A>G g.19724108A>G - - GP1BB_000006 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.265A>G r.(?) p.(Asn89Asp) - pathogenic (recessive) g.19711631A>G g.19724108A>G - - GP1BB_000006 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.265A>G r.(?) p.(Asn89Asp) - pathogenic (recessive) g.19711631A>G g.19724108A>G - - GP1BB_000006 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.265A>G r.(?) p.(Asn89Asp) - pathogenic (recessive) g.19711631A>G g.19724108A>G - - GP1BB_000006 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.265A>G r.(?) p.(Asn89Asp) - pathogenic (recessive) g.19711631A>G g.19724108A>G - - GP1BB_000006 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.265A>G r.(?) p.(Asn89Asp) - pathogenic (recessive) g.19711631A>G g.19724108A>G - - GP1BB_000006 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.265A>G r.(?) p.(Asn89Asp) - pathogenic (recessive) g.19711631A>G g.19724108A>G - - GP1BB_000006 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.265A>G r.(?) p.(Asn89Asp) - pathogenic (recessive) g.19711631A>G g.19724108A>G - - GP1BB_000006 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.266A>C r.(?) p.(Asn89Thr) - pathogenic (recessive) g.19711632A>C g.19724109A>C - - GP1BB_000016 - PubMed: Strassel 2003 - - Germline - - - 0 - Anna Savoia
+?/. - c.267C>A r.(?) p.(Asn89Lys) - likely pathogenic g.19711633C>A - - - GP1BB_000049 - - - - CLASSIFICATION record - - - 0 - MobiDetails
+/. 2 c.269C>G r.(?) p.(Pro90Arg) - pathogenic (recessive) g.19711635C>G g.19724112C>G - - GP1BB_000017 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.281A>G r.(?) p.(Asp94Gly) - pathogenic (recessive) g.19711647A>G g.19724124A>G - - GP1BB_000008 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.289C>T r.(?) p.(Leu97Phe) - pathogenic (recessive) g.19711655C>T g.19724132C>T - - GP1BB_000026 - PubMed: Kunishima 2013 - - Germline - - - 0 - Anna Savoia
+/. 2 c.290T>G r.(?) p.(Leu97Arg) - pathogenic (recessive) g.19711656T>G g.19724133T>G - - GP1BB_000009 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.296C>G r.(?) p.(Pro99Arg) - pathogenic (recessive) g.19711662C>G g.19724139C>G - - GP1BB_000018 - PubMed: Kunishima 2000 - - Germline - - - 0 - Anna Savoia
+/. 2 c.315del r.(?) p.(Gly106Alafs*87) - pathogenic (recessive) g.19711681del g.19724158del - - GP1BB_000036 - PubMed: Kenny 1999 - - Germline - - - 0 - Anna Savoia
+/. 2 c.338A>G r.(?) p.(Tyr113Cys) - pathogenic (recessive) g.19711704A>G g.19724181A>G - - GP1BB_000025 - PubMed: Sato 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.338A>G r.(?) p.(Tyr113Cys) - pathogenic (recessive) g.19711704A>G g.19724181A>G - - GP1BB_000025 - PubMed: Kunishima 1997 - - Germline - - - 0 - Anna Savoia
+/. 2 c.338A>G r.(?) p.(Tyr113Cys) - pathogenic (recessive) g.19711704A>G g.19724181A>G - - GP1BB_000025 - PubMed: Kurokawa 2001 - - Germline - - - 0 - Anna Savoia
?/. - c.349C>G r.(?) p.(Arg117Gly) - VUS g.19711715C>G - - - GP1BB_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.361C>T r.(?) p.(Pro121Ser) - pathogenic (recessive) g.19711727C>T g.19724204C>T - - GP1BB_000037 - PubMed: Tang 2004 - - Germline - - - 0 - Anna Savoia
+/. 2 c.392A>C r.(?) p.(Tyr131Ser) - pathogenic (recessive) g.19711758A>C g.19724235A>C - - GP1BB_000010 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.397G>C r.(?) p.(Ala133Pro) - pathogenic (recessive) g.19711763G>C g.19724240G>C - - GP1BB_000027 - PubMed: Kunishima 1997 - - Germline - - - 0 - Anna Savoia
-?/. - c.399C>T r.(?) p.(Ala133=) - likely benign g.19711765C>T - GP1BB(NM_000407.4):c.399C>T (p.A133=) - GP1BB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.410T>C r.(?) p.(Leu137Pro) - pathogenic (recessive) g.19711776T>C g.19724253T>C - - GP1BB_000013 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+?/. - c.410T>C r.(?) p.(Leu137Pro) - likely pathogenic g.19711776T>C g.19724253T>C GP1BB(NM_000407.4):c.410T>C (p.L137P) - GP1BB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.418_419dup r.(?) p.(Cys141Leufs*53) - pathogenic (recessive) g.19711784_19711785dup g.19724261_19724262dup - - GP1BB_000011 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.423C>A r.(?) p.(Cys141*) - pathogenic (recessive) g.19711789C>A g.19724266C>A - - GP1BB_000012 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.423C>A r.(?) p.(Cys141*) - pathogenic (recessive) g.19711789C>A g.19724266C>A - - GP1BB_000012 - PubMed: Mahfouz 2012 - - Germline - - - 0 - Anna Savoia
-?/. - c.433C>T r.(?) p.(Pro145Ser) - likely benign g.19711799C>T - GP1BB(NM_000407.4):c.433C>T (p.P145S) - GP1BB_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.439T>A r.(?) p.(Cys147Ser) - pathogenic (recessive) g.19711805T>A g.19724282T>A - - GP1BB_000028 - PubMed: Kunishima 2006 - - Germline - - - 0 - Anna Savoia
+/. 2 c.443G>A r.(?) p.(Trp148*) - pathogenic (recessive) g.19711809G>A g.19724286G>A - - GP1BB_000019 - PubMed: Kunishima 2002 - - Germline - - - 0 - Anna Savoia
+/. 2 c.443G>A r.(?) p.(Trp148*) - pathogenic (recessive) g.19711809G>A g.19724286G>A - - GP1BB_000019 - PubMed: Kunishima 2013 - - Germline - - - 0 - Anna Savoia
+/. 2 c.448del r.(?) p.(Ala150Argfs*43) - pathogenic (recessive) g.19711814del g.19724291del - - GP1BB_000029 - PubMed: Kunishima 2006 - - Germline - - - 0 - Anna Savoia
+?/. 2 c.462G>C r.(?) p.(Gln154His) - likely pathogenic g.19711828G>C g.19724305G>C - - GP1BB_000020 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/. 2 c.466dup r.(?) p.(Ala156Glyfs*153) - pathogenic (recessive) g.19711832dup g.19724309dup - - GP1BB_000021 - PubMed: Strassel 2006 - - Germline - - - 0 - Anna Savoia
+?/. 2 c.470T>A r.(?) p.(Leu157Gln) - likely pathogenic g.19711836T>A g.19724313T>A - - GP1BB_000038 - PubMed: Savoia 2014 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.470T>C r.(?) p.(Leu157Pro) - pathogenic (recessive) g.19711836T>C g.19724313T>C - - GP1BB_000014 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.470T>C r.(?) p.(Leu157Pro) - pathogenic (recessive) g.19711836T>C g.19724313T>C - - GP1BB_000014 - PubMed: Sumitha 2011 - - Germline - - - 0 - Anna Savoia
+/+ 2 c.472_473del r.(?) p.(Leu158Glyfs*150) - pathogenic (recessive) g.19711838_19711839del g.19724315_19724316del - - GP1BB_000034 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.491dup r.(?) p.(His164Glnfs*145) - pathogenic (recessive) g.19711857dup g.19724334dup - - GP1BB_000022 - PubMed: Savoia 2011 - - Germline - - - 0 - Anna Savoia
Legend   How to query