Full data view for gene GP1BA

Information The variants shown are described using the NM_000173.5 transcript reference sequence.

179 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.-5T>C - r.(?) p.(=) Unknown - benign g.4835895T>C g.4932600T>C GP1BA(NM_000173.7):c.-5T>C - GP1BA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.-5T>C - r.(?) p.(=) Unknown - VUS g.4835895T>C g.4932600T>C - - GP1BA_000008 - PubMed: Othman 2008 - rs2243093 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5T>C - r.(=) p.(=) Unknown - benign g.4835895T>C g.4932600T>C - - GP1BA_000008 - PubMed: Othman 2005 - - Germline - - - - - DNA SEQ - - VWDP 15705799-Fam PubMed: Othman 2005 3-generation family, affected mother, daughter, grand daughter F - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. 2 c.1A>C - r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.4835900A>C g.4932605A>C - - GP1BA_000029 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - - - - - - - 1 Anna Savoia
+?/. 2 c.23_31del - r.(?) p.(Leu8_Leu10del) Both (homozygous) - likely pathogenic g.4835922_4835930del g.4932627_4932635del - - GP1BA_000030 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Algeria - - - - - 2 Anna Savoia
-?/. - c.96C>T - r.(?) p.(Asn32=) Unknown - likely benign g.4835995C>T - GP1BA(NM_000173.5):c.96C>T (p.N32=) - GP1BA_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.103A>T - r.(?) p.(Lys35*) Parent #2 - pathogenic (recessive) g.4836002A>T g.4932707A>T - - GP1BA_000032 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Brazil;Japan - - - - - 1 Anna Savoia
+/. 2 c.103A>T - r.(?) p.(Lys35*) Both (homozygous) - pathogenic (recessive) g.4836002A>T g.4932707A>T - - GP1BA_000032 - PubMed: Gohda 2007 - - Germline - - - - - DNA ? - - BSS - PubMed: Gohda 2007 - - - Japan - - - - - 1 Anna Savoia
+/. 2 c.104del - r.(?) p.(Lys35Argfs*4) Both (homozygous) - pathogenic (recessive) g.4836003del g.4932708del - - GP1BA_000033 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Italy - - - - - 2 Anna Savoia
+/. 2 c.104del - r.(?) p.(Lys35Argfs*4) Both (homozygous) - pathogenic (recessive) g.4836003del g.4932708del - - GP1BA_000033 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BBS1 - PubMed: Savoia 2014 - - - Switzerland - - - - - 1 Anna Savoia
+/. 2 c.104del - r.(?) p.(Lys35Argfs*4) Both (homozygous) - pathogenic (recessive) g.4836003del g.4932708del - - GP1BA_000033 - PubMed: Li 1996 - - Germline - - - - - DNA ? - - BSS - PubMed: Li 1996 - - - - - - - - - 1 Anna Savoia
?/. 2 c.106A>G - r.(?) p.(Arg36Gly) Both (homozygous) - VUS g.4836005A>G g.4932710A>G - - GP1BA_000031 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Algeria - - - - - 2 Anna Savoia
-?/. - c.106A>G - r.(?) p.(Arg36Gly) Unknown - likely benign g.4836005A>G g.4932710A>G GP1BA(NM_000173.5):c.106A>G (p.(Arg36Gly)) - GP1BA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.154dup - r.(?) p.(Leu52Profs*5) Both (homozygous) - pathogenic (recessive) g.4836053dup g.4932758dup - - GP1BA_000038 - PubMed: Afrasiabi 2007 - - Germline - - - - - DNA ? - - BSS - PubMed: Afrasiabi 2007,PubMed: Savoia 2014 - - - Iran - - - - - 2 Anna Savoia
+/. 2 c.165_168del - r.(?) p.(Ser55Argfs*12) Both (homozygous) - pathogenic (recessive) g.4836064_4836067del g.4932769_4932772del - - GP1BA_000039 - PubMed: Vettore 2008 - - Germline - - - - - DNA ? - - BSS - PubMed: Vettore 2008,PubMed: Savoia 2014 - - - Italy - - - - - 1 Anna Savoia
+/. 2 c.165_168del - r.(?) p.(Ser55Argfs*12) Parent #1 - pathogenic (recessive) g.4836064_4836067del g.4932769_4932772del - - GP1BA_000039 - PubMed: Afsher-Kharghan 2000 - - Germline - - - - - DNA ? - - BSS - PubMed: Afshar-Kharghan 2000 - - - Germany - - - - - 1 Anna Savoia
+/. 2 c.169A>C - r.(?) p.(Asn57His) Unknown - pathogenic g.4836068A>C g.4932773A>C - - GP1BA_000023 - PubMed: Berndt 2011 - - Unknown - - - - - DNA SEQ - - BSS ? PubMed: Berndt 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.206C>T - r.(?) p.(Pro69Leu) Unknown - benign g.4836105C>T g.4932810C>T GP1BA(NM_000173.5):c.206C>T (p.(Pro69Leu)), GP1BA(NM_000173.7):c.206C>T (p.P69L) - GP1BA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.206C>T - r.(?) p.(Pro69Leu) Unknown - likely benign g.4836105C>T g.4932810C>T GP1BA(NM_000173.5):c.206C>T (p.(Pro69Leu)), GP1BA(NM_000173.7):c.206C>T (p.P69L) - GP1BA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.206C>T - r.(?) p.(Pro69Leu) Unknown - likely benign g.4836105C>T - GP1BA(NM_000173.5):c.206C>T (p.(Pro69Leu)), GP1BA(NM_000173.7):c.206C>T (p.P69L) - GP1BA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.208T>G - r.(?) p.(Tyr70Asp) Unknown - pathogenic g.4836107T>G g.4932812T>G - - GP1BA_000018 - PubMed: Kunishima 2006 - - Unknown - - - - - DNA SEQ - - ? ? PubMed: Kunishima 2006 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.215G>A - r.(?) p.(Arg72His) Unknown - likely benign g.4836114G>A g.4932819G>A GP1BA(NM_000173.5):c.215G>A (p.R72H) - GP1BA_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.217C>T - r.217c>u p.Leu73Phe Parent #1 - pathogenic (dominant) g.4836116C>T g.4932821C>T 259C>T (F57L) - GP1BA_000002 not in 266 control chromosomes PubMed: Miller 1992, OMIM:var0004 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ - - BSS 01730088-Pat!.i PubMed: Miller 1992 3-generation family, affected father M no United States - - - - - 1 Johan den Dunnen
+/. 2 c.217C>T - r.217c>u p.Leu73Phe Paternal (confirmed) - pathogenic (dominant) g.4836116C>T g.4932821C>T 259C>T (F57L) - GP1BA_000002 not in 266 control chromosomes PubMed: Miller 1992, OMIM:var0004 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - BSS 01730088-PatII.2 PubMed: Miller 1992 3-generation family, affected daughter F no United States - - - - - 1 Johan den Dunnen
+/. 2 c.217C>T - r.217c>u p.Leu73Phe Maternal (confirmed) - pathogenic (dominant) g.4836116C>T g.4932821C>T 259C>T (F57L) - GP1BA_000002 not in 266 control chromosomes PubMed: Miller 1992, OMIM:var0004 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - BSS 01730088-PatIII.1 PubMed: Miller 1992 3-generation family, addected son M no United States - - - - - 1 Johan den Dunnen
+/. 2 c.217C>T - r.217c>u p.Leu73Phe Maternal (confirmed) - pathogenic (dominant) g.4836116C>T g.4932821C>T 259C>T (F57L) - GP1BA_000002 not in 266 control chromosomes PubMed: Miller 1992, OMIM:var0004 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - BSS 01730088-PatIII.2 PubMed: Miller 1992 3-generation family, affected daughter F no United States - - - - - 1 Johan den Dunnen
+/. 2 c.236dup - r.(?) p.(Asp79Glufs*2) Both (homozygous) - pathogenic (recessive) g.4836135dup g.4932840dup - - GP1BA_000045 - PubMed: Ali 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Ali 2014 - - - India - - - - - 1 Anna Savoia
+?/. - c.238A>G - r.(?) p.(Arg80Gly) Parent #1 ACGS VUS g.4836137A>G - - - GP1BA_000091 - - - - Germline yes - - - - DNA PCR - - BSS - - - F no Argentina white - - - - 1 Adriana Ines Woods
+/. 2 c.241T>C - r.(?) p.(Cys81Arg) Parent #1 - pathogenic (recessive) g.4836140T>C g.4932845T>C - - GP1BA_000016 - PubMed: Kenny 1998 - - Germline - - - - - DNA ? - - BSS - PubMed: Kenny 1998 - - - Iceland - - - - - 2 Anna Savoia
-/- 2 c.256C>T - r.(?) p.(Leu86Phe) Unknown - benign g.4836155C>T g.4932860C>T Leu70Phe - GP1BA_000072 - PubMed: Othman 2008 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>T - r.(?) p.(=) Unknown - likely benign g.4836157C>T - GP1BA(NM_000173.7):c.258C>T (p.L86=) - GP1BA_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.266dup - r.(?) p.(Asp89Glufs*63) Both (homozygous) - pathogenic (recessive) g.4836165dup g.4932870dup - - GP1BA_000046 - PubMed: Ali 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Ali 2014 - - - India - - - - - 1 Anna Savoia
+/. 2 c.275del - r.(?) p.(Leu92Argfs*20) Both (homozygous) - pathogenic (recessive) g.4836174del g.4932879del - - GP1BA_000047 - PubMed: Simsek 1994 - - Germline - - - - - DNA ? - - BSS - PubMed: Simsek et al 1994 - - - - - - - - - 1 Anna Savoia
+/. - c.275del - r.(?) p.(Leu92ArgfsTer20) Unknown - pathogenic g.4836174del g.4932879del - - GP1BA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.278dup - r.(?) p.(Val94Serfs*58) Both (homozygous) - pathogenic (recessive) g.4836177dup g.4932882dup - - GP1BA_000048 - PubMed: Ali 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Ali 2014 - - - India - - - - - 1 Anna Savoia
-?/. - c.334G>A - r.(?) p.(Gly112Arg) Unknown - likely benign g.4836233G>A - GP1BA(NM_000173.5):c.334G>A (p.(Gly112Arg)) - GP1BA_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.339_340insGA - r.(?) p.(Thr114Glufs*16) Both (homozygous) - pathogenic (recessive) g.4836238_4836239insGA g.4932943_4932944insGA 339insGA - GP1BA_000040 - PubMed: Sumitha 2011 - - Germline - - - - - DNA ? - - BSS - PubMed: Sumitha 2011,PubMed: Savoia 2014 - - - - - - - - - 1 Anna Savoia
+?/. - c.355dup - r.(?) p.(Thr119AsnfsTer33) Unknown - likely pathogenic g.4836254dup g.4932959dup - - GP1BA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.376A>G - r.(?) p.(Asn126Asp) Both (homozygous) - pathogenic (recessive) g.4836275A>G g.4932980A>G - - GP1BA_000022 - PubMed: Savoia 2011 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2011,PubMed: Savoia 2014 - - - Italy - - - - - 1 Anna Savoia
+/. 2 c.376A>G - r.(?) p.(Asn126Asp) Both (homozygous) - pathogenic (recessive) g.4836275A>G g.4932980A>G - - GP1BA_000022 - PubMed: Vettore 2011 - - Germline - - - - - DNA ? - - BSS - PubMed: Vettore 2011,PubMed: Savoia 2014 - - - Italy - - - - - 1 Anna Savoia
+/. 2 c.376A>G - r.(?) p.(Asn126Asp) Unknown - pathogenic g.4836275A>G g.4932980A>G - - GP1BA_000022 - PubMed: Savoia 2011 - - Germline - - - - - DNA SEQ - - BSS 21173099-Fam1Pat1 PubMed: Savoia 2011 - F - Italy - - - - - 1 Johan den Dunnen
-?/. - c.390G>A - r.(?) p.(=) Unknown - likely benign g.4836289G>A - GP1BA(NM_000173.7):c.390G>A (p.S130=) - GP1BA_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.416T>C - r.(?) p.(Leu139Pro) Both (homozygous) - pathogenic (recessive) g.4836315T>C g.4933020T>C - - GP1BA_000020 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Morocco - - - - - 1 Anna Savoia
+/. 2 c.434T>C - r.(?) p.(Leu145Pro) Both (homozygous) - pathogenic (recessive) g.4836333T>C g.4933038T>C - - GP1BA_000010 - PubMed: Li 1995 - - Germline - - - - - DNA ? - - BSS - PubMed: Li 1995 - - - - African-American - - - - 2 Anna Savoia
+/. 2 c.434T>C - r.(?) p.(Leu145Pro) Both (homozygous) - pathogenic (recessive) g.4836333T>C g.4933038T>C - - GP1BA_000010 - PubMed: Antonucci 2000 - - Germline - - - - - DNA ? - - BSS - PubMed: Antonucci 2000 - - - - African-American - - - - 1 Anna Savoia
+/. 2 c.434T>C - r.(?) p.(Leu145Pro) Parent #1 - pathogenic (recessive) g.4836333T>C g.4933038T>C - - GP1BA_000010 - PubMed: Koskela 1999 - - Germline - - - - - DNA ? - - BSS - PubMed: Koskela 1999 - - - Finland - - - - - 1 Anna Savoia
+/. 2 c.438C>G - r.(?) p.(Tyr146*) Both (homozygous) - pathogenic (recessive) g.4836337C>G g.4933042C>G - - GP1BA_000034 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - - - - - - - 1 Anna Savoia
+?/. - c.449A>G - r.(?) p.(Asn150Ser) Unknown - likely pathogenic g.4836348A>G - - - GP1BA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/- 2 c.482C>T - r.(?) p.(Thr161Met) Unknown - VUS g.4836381C>T g.4933086C>T - - GP1BA_000009 - PubMed: Ulrichts 2003 - rs6065 Unknown - - - - - DNA SEQ - - ? ? PubMed: Ulrichts 2003 - - - - - - - - - 1 Johan den Dunnen
-/. - c.482C>T - r.(?) p.(Thr161Met) Unknown - benign g.4836381C>T g.4933086C>T 1018C>T - GP1BA_000009 - PubMed: Takahashi 1995 - - Germline - - - - - DNA SEQ - - VWDP 07833477-FamB PubMed: Takahashi 1995 2-generation family, affected father/daugther F;M - Japan - - - - - 2 Johan den Dunnen
-/- 2 c.482C>T - r.(?) p.(Thr161Met) Unknown - benign g.4836381C>T g.4933086C>T Thr145Met - GP1BA_000009 - PubMed: Othman 2008 - rs6065 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.482C>T - r.(?) p.(Thr161Met) Unknown - benign g.4836381C>T - - - GP1BA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.515C>T - r.(?) p.(Ala172Val) Both (homozygous) - pathogenic (recessive) g.4836414C>T g.4933119C>T - - GP1BA_000011 - PubMed: De Marco 1990, PubMed: Ware 1993 - - Germline - - - - - DNA ? - - BSS - PubMed: De Marco 1990, PubMed: Ware 1993 - - - Italy - - - - - 1 Anna Savoia
+/. 2 c.515C>T - r.(?) p.(Ala172Val) Parent #1 - pathogenic (recessive) g.4836414C>T g.4933119C>T - - GP1BA_000011 - PubMed: Margaglione 1999 - - Germline - - - - - DNA ? - - BSS - PubMed: Margaglione 1999 - - - Italy - - - - - 1 Anna Savoia
+/+ 2 c.515C>T - r.(?) p.(Ala172Val) Parent #1 - pathogenic (dominant) g.4836414C>T g.4933119C>T Ala156Val - GP1BA_000011 - PubMed: Savoia 2001 - - Germline yes - - - - DNA SEQ - - BSS 11222377-FamTP-1 PubMed: Savoia 2001 3-generation family, 9 affected (3F, 6M) F;M - Italy - - - - - 9 Johan den Dunnen
+/+ 2 c.515C>T - r.(?) p.(Ala172Val) Parent #1 - pathogenic (dominant) g.4836414C>T g.4933119C>T Ala156Val - GP1BA_000011 - PubMed: Savoia 2001 - - Germline yes - - - - DNA SEQ - - BSS 11222377-FamTP-2 PubMed: Savoia 2001 4-generation family, 9 affected (5F, 9M) F;M - Italy - - - - - 9 Johan den Dunnen
+/. 2 c.555_590del - r.(?) p.(Asn185_Glu197delinsLys) Parent #1 - pathogenic g.4836454_4836489del g.4933159_4933194del - - GP1BA_000028 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Italy - - - - - 1 Anna Savoia
+/. 2 c.555_590del - r.(?) p.(Asn185_Glu197delinsLys) Parent #2 - pathogenic (recessive) g.4836454_4836489del g.4933159_4933194del - - GP1BA_000028 - PubMed: Margaglione 1999 - - Germline - - - - - DNA ? - - BSS - PubMed: Margaglione 1999 - - - Italy - - - - - 1 Anna Savoia
+/. 2 c.584_586del - r.(?) p.(Leu195del) Both (homozygous) - pathogenic (recessive) g.4836483_4836485del g.4933188_4933190del - - GP1BA_000035 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Algeria - - - - - 2 Anna Savoia
+/. 2 c.584_586del - r.(?) p.(Leu195del) Both (homozygous) - pathogenic (recessive) g.4836483_4836485del g.4933188_4933190del - - GP1BA_000035 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Algeria - - - - - 2 Anna Savoia
+/. 2 c.584_586del - r.(?) p.(Leu195del) Both (homozygous) - pathogenic (recessive) g.4836483_4836485del g.4933188_4933190del - - GP1BA_000035 - PubMed: de la Salle 1995, PubMed: Ulsemer 2000 - - Germline - - - - - DNA ? - - BSS - PubMed: de la Selle 1995, PubMed: Ulsemer 2000,PubMed: Savoia 2014 - - - Algeria - - - - - 3 Anna Savoia
+/. 2 c.586C>T - r.(?) p.(Gln196*) Parent #1 - pathogenic (recessive) g.4836485C>T g.4933190C>T - - GP1BA_000036 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Germany - - - - - 2 Anna Savoia
+/. 2 c.667T>G - r.(?) p.(Trp223Gly) Both (homozygous) - pathogenic (recessive) g.4836566T>G g.4933271T>G - - GP1BA_000024 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA ? - - BSS - PubMed: Rosenberg 2007,PubMed: Savoia 2014 - - - Uzbekistan - - - - - 2 Anna Savoia
+/. 2 c.667T>G - r.(?) p.(Trp223Gly) Unknown - pathogenic g.4836566T>G g.4933271T>G - - GP1BA_000024 - PubMed: Berndt 2011 - - Unknown - - - - - DNA SEQ - - BSS ? PubMed: Berndt 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.668G>C - r.(?) p.(Trp223Ser) Both (homozygous) - pathogenic g.4836567G>C g.4933272G>C - - GP1BA_000019 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA SEQ - - BSS ? PubMed: Rosenberg 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.673T>A - r.(?) p.(Cys225Ser) Parent #1 - pathogenic (recessive) g.4836572T>A g.4933277T>A - - GP1BA_000012 - PubMed: Savoia 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2014 - - - Brazil;Japan - - - - - 1 Anna Savoia
+/. 2 c.673T>A - r.(?) p.(Cys225Ser) Both (homozygous) - pathogenic (recessive) g.4836572T>A g.4933277T>A - - GP1BA_000012 - PubMed: Savoia 2011 - - Germline - - - - - DNA ? - - BSS - PubMed: Savoia 2011,PubMed: Savoia 2014 - - - - South America - - - - 1 Anna Savoia
+/. 2 c.673T>A - r.(?) p.(Cys225Ser) Both (homozygous) - pathogenic (recessive) g.4836572T>A g.4933277T>A - - GP1BA_000012 - PubMed: Simsek 1994 - - Germline - - - - - DNA ? - - BSS - PubMed: Simsek 1994,PubMed: Savoia 2014 - - - Spain - - - - - 1 Anna Savoia
+/. 2 c.673T>A - r.(?) p.(Cys225Ser) Both (homozygous) - pathogenic (recessive) g.4836572T>A g.4933277T>A - - GP1BA_000012 - PubMed: Rand 2010 - - Germline - - - - - DNA ? - - BSS - PubMed: Rand 2010,PubMed: Savoia 2014 - - - Portugal - - - - - 1 Anna Savoia
+/. 2 c.673T>A - r.(?) p.(Cys225Ser) Parent #1 - pathogenic (recessive) g.4836572T>A g.4933277T>A - - GP1BA_000012 - PubMed: Gonzalez-Manchon 2001 - - Germline - - - - - DNA ? - - BSS - PubMed: Gonzalez-Manchon 2001 - - - Spain - - - - - 2 Anna Savoia
+/. 2 c.692A>G - r.(692a>g) p.(Tyr231Cys) Unknown - pathogenic (recessive) g.4836591A>G - g.1000A>G - GP1BA_000085 - - - - Germline yes - - - - DNA SEQ - - BSS - - - M no Argentina white - - - - 1 Adriana Ines Woods
+?/. - c.692A>G - r.(?) p.(Tyr231Cys) Parent #2 ACGS likely pathogenic g.4836591A>G - - - GP1BA_000085 - - - - Germline - - - - - DNA PCR - - BSS - - - F no Argentina white - - - - 1 Adriana Ines Woods
+/. 2 c.737G>T - r.(?) p.(Trp246Leu) Unknown - pathogenic (dominant) g.4836636G>T g.4933341G>T 3805G>T (Trp230Leu) - GP1BA_000026 variant not maternal, father not available PubMed: Woods 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - VWDP 24474090-Pat PubMed: Woods 2014 - M no Argentina white - - - - 1 Adriana Ines Woods
+?/. - c.737G>T - r.(?) p.(Trp246Leu) Paternal (confirmed) - likely pathogenic g.4836636G>T - - - GP1BA_000026 - - - - Germline - - - - - DNA SEQ-NG - - BSSA2 122 - - F - China - - - - - 1 Sha Hong
+/. 2 c.745G>A - r.(?) p.(Gly249Ser) Unknown - pathogenic g.4836644G>A g.4933349G>A - - GP1BA_000017 - PubMed: Matsubara 2003 - - Unknown - - - - - DNA SEQ - - VWDP ? PubMed: Matsubara 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.745G>A - r.(?) p.(Gly249Ser) Unknown - pathogenic (dominant) g.4836644G>A g.4933349G>A Gly233Ser - GP1BA_000017 - PubMed: Nurden 2007 - - Unknown - - - - - DNA SEQ - - VWDP 17264965-Pat PubMed: Nurden 2007 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.745G>A - r.(?) p.(Gly249Ser) Unknown - likely pathogenic g.4836644G>A - - - GP1BA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.746G>T - r.(?) p.(Gly249Val) Unknown - pathogenic (dominant) g.4836645G>T g.4933350G>T 788T>G (Val233Gly) - GP1BA_000003 not in 332 control chromosomes PubMed: Miller 1991, OMIM:var0003 - rs121908062 Germline yes - - - - DNA SEQ - - VWDP 02052556-Pats PubMed: Miller 1991 3-generation family, 7 affecteds - no United States - - - - - 7 Johan den Dunnen
+/. - c.746G>T - r.(?) p.(Gly249Val) Parent #1 - pathogenic (dominant) g.4836645G>T g.4933350G>T Gly233Ser - GP1BA_000003 - PubMed: Favaloro 2007 - - Germline yes - - - - DNA SEQ - - VWDP 17916098-FamCas1/2 PubMed: Favaloro 2007 2-generation family, affected female and grand daugther F - Australia - - - - - 2 Johan den Dunnen
+/. - c.746G>T - r.(?) p.(Gly249Val) Unknown - pathogenic (dominant) g.4836645G>T g.4933350G>T Gly233Ser - GP1BA_000003 - PubMed: Favaloro 2007 - - Unknown - - - - - DNA SEQ - - VWDP 17916098-FamCas3 PubMed: Favaloro 2007 - F - Australia - - - - - 1 Johan den Dunnen
+/. - c.751G>T - r.(?) p.(Asp251Tyr) Unknown - pathogenic (dominant) g.4836650G>T g.4933355G>T Asp235Tyr - GP1BA_000071 - PubMed: Enayat 2012 - - Unknown - - - - - DNA SEQ - - VWDP 23014764 PubMed: Enayat 2012 two patients - - Iran - - - - - 2 Johan den Dunnen
+/. 2 c.763A>G - r.(?) p.(Met255Val) Unknown - pathogenic g.4836662A>G g.4933367A>G - - GP1BA_000014 - PubMed: Russell 1993 - - Germline - - - - - DNA SEQ - - VWDP ? PubMed: Russell 1993 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.763A>G - r.(?) p.(Met255Val) Unknown - pathogenic (dominant) g.4836662A>G g.4933367A>G 806A>G (Met239Val) - GP1BA_000027 p.Met239Val (conventional numbering) - - - Germline yes - - - - DNA SEQ - - VWDP ? - - M no Argentina white - - - - 1 Adriana Ines Woods
+/. - c.763A>G - r.(?) p.(Met255Val) Paternal (confirmed) - pathogenic (dominant) g.4836662A>G g.4933367A>G 1299A>G (M239V) - GP1BA_000014 - PubMed: Takahashi 1995 - - Germline yes - - - - DNA SEQ - - VWDP 07833477-FamB PubMed: Takahashi 1995 2-generation family, affected father/daugther F;M - Japan - - - - - 2 Johan den Dunnen
+/. - c.763A>G - r.(?) p.(Met255Val) Unknown - pathogenic (dominant) g.4836662A>G g.4933367A>G 1299A>G (M239V) - GP1BA_000014 - PubMed: Takahashi 1995 - - Germline yes - - - - DNA SEQ - - VWDP 07833477-FamA PubMed: Takahashi 1995 2-generation family, affected father/daugther F;M - Japan - - - - - 1 Johan den Dunnen
+/. - c.763A>G - r.(?) p.(Met255Val) Unknown - pathogenic (dominant) g.4836662A>G g.4933367A>G 1299A>G (M239V) - GP1BA_000014 - PubMed: Takahashi 1995 - - Germline - - - - - DNA SEQ - - VWDP 07833477-Pats PubMed: Takahashi 1995 two families - - Japan - - - - - 2 Johan den Dunnen
-/. - c.774C>T - r.(?) p.(Asn258=) Unknown - benign g.4836673C>T g.4933378C>T - - GP1BA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.774C>T - r.(=) p.(=) Parent #1 - benign g.4836673C>T g.4933378C>T - - GP1BA_000066 29 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6066 Germline - 29/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 29 Mohammed Faruq
+/. 2 c.785T>G - r.(?) p.(Val262Gly) Both (homozygous) - pathogenic (recessive) g.4836684T>G g.4933389T>G - - GP1BA_000049 - PubMed: Ali 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Ali 2014 - - - India - - - - - 2 Anna Savoia
?/. 2 c.793G>T - r.(?) p.(Asp265Tyr) Unknown - VUS g.4836692G>T g.4933397G>T - - GP1BA_000001 - - - - Unknown - - - - - DNA SEQ - - VWDP ? - - F - Iran - - - - - 1 Maha Othman
+/. 2 c.882C>G - r.(?) p.(Tyr294*) Both (homozygous) - pathogenic (recessive) g.4836781C>G g.4933486C>G - - GP1BA_000042 - PubMed: Glembotsky 2012 - - Germline - - - - - DNA ? - - BSS - PubMed: Glembotsky 2012,PubMed: Savoia 2014 - - - Bolivia Indigenous - - - - 1 Anna Savoia
+/. 2 c.932_933del - r.(?) p.(Val311Glyfs*39) Both (homozygous) - pathogenic (recessive) g.4836831_4836832del g.4933536_4933537del - - GP1BA_000050 - PubMed: Kanaji 1997 - - Germline - - - - - DNA ? - - BSS - PubMed: Kanaji 1997 - - - - - - - - - 1 Anna Savoia
+/. 2 c.941dup - r.(?) p.(Thr316Hisfs*35) Both (homozygous) - pathogenic (recessive) g.4836840dup g.4933545dup - - GP1BA_000051 - PubMed: Ali 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Ali 2014 - - - India - - - - - 1 Anna Savoia
?/. - c.962C>A - r.(?) p.(Thr321Asn) Unknown - VUS g.4836861C>A g.4933566C>A - - GP1BA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1012dup - r.(?) p.(Met338Asnfs*13) Both (homozygous) - pathogenic (recessive) g.4836911dup g.4933616dup - - GP1BA_000052 - PubMed: Ali 2013 - - Germline - - - - - DNA ? - - BSS - PubMed: Ali 2013 - - - India - - - - - 1 Anna Savoia
+/. 2 c.1039G>T - r.(?) p.(Glu347*) Parent #1 - pathogenic (recessive) g.4836938G>T g.4933643G>T - - GP1BA_000062 - PubMed: Yamamoto 2013 - - Germline - - - - - DNA ? - - BSS - PubMed: Yamamoto 2013 - - - Japan - - - - - 1 Anna Savoia
+/. 2 c.1064dup - r.(?) p.(Pro357Thrfs*2) Both (homozygous) - pathogenic (recessive) g.4836963dup g.4933668dup - - GP1BA_000053 - PubMed: Ali 2014 - - Germline - - - - - DNA ? - - BSS - PubMed: Ali 2014 - - - India - - - - - 1 Anna Savoia
-/. - c.1074A>G - r.(?) p.(Arg358=) Unknown - benign g.4836973A>G g.4933678A>G - - GP1BA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1077del - r.(?) p.(Trp359*) Both (homozygous) - pathogenic (recessive) g.4836976del g.4933681del - - GP1BA_000054 - PubMed: Bowers 2006 - - Germline - - - - - DNA ? - - BSS - PubMed: Bowers 2006 - - - - - - - - - 1 Anna Savoia
+/. 2 c.1077G>A - r.(?) p.(Trp359*) Parent #1 - pathogenic g.4836976G>A g.4933681G>A - - GP1BA_000004 - PubMed: Ware 1990 - - Germline - - - - - DNA ? - - BSS - PubMed: Ware 1990 - - - - - - - - - 1 Anna Savoia
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