LOVD - Variant listings for RAB3GAP1

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+?/+? DNA SEQ - c.150+1G>C
    + c.473delA
- - - - RAB3GAP1_00021 RAB3GAP1_0078 Warburg Micro Syndrome - DNA SEQ - 1 American male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.151-2A>T
    + c.151-2A>T
- - - - RAB3GAP1_00022 RAB3GAP1_0080 Warburg Micro Syndrome - DNA SEQ - 1 - female Autosomal Recessive Familial - - - - -
+/+ RNA RT-PCR - c.648+5G>A
    + c.648+5G>A
- - - - RAB3GAP1_00033 RAB3GAP1_0501 Warburg Micro Syndrome Morris-Rosendahl DJ et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6 RNA RT-PCR Patient 2: Morris-Rosendahl DJ et al. 1 Turkish male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.649-2A>G
    + c.649-2A>G
- - - - RAB3GAP1_00016 RAB3GAP1_0073 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ K9: Aligianis IA et al. Am J Dis Child. 1993 Dec;147(12):1309-12 1 Pakistani - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.649-2A>G
    + c.649-2A>G
- - - - RAB3GAP1_00017 RAB3GAP1_0074 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K5: Aligianis IA et al. 1 Pakistani - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.748+1G>A
    + c.748+1G>A
- - - - RAB3GAP1_00010 RAB3GAP1_0064 Warburg Micro Syndrome Yuksel A et al. Clin Dysmorphol. 2007 Apr;16(2):89-93 DNA SEQ - 1 Turkish male - Familial Autosomal Recessive - - - -
+/+ DNA SEQ - c.748+1G>A
    + c.748+1G>A
- - - - RAB3GAP1_00026 RAB3GAP1_0098 Warburg Micro Syndrome - DNA SEQ - 1 Turkish male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.748+1G>A
    + c.748+1G>A
- - - - RAB3GAP1_00028 RAB3GAP1_0126 Warburg Micro Syndrome - DNA SEQ - 1 Turkish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.748+1G>A
    + c.748+1G>A
- - - - RAB3GAP1_00029 RAB3GAP1_0127 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K12: Aligianis et al. 1 Turkish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.748+1G>A
    + c.280G>T
- - - - RAB3GAP1_00050 RAB3GAP1_0514 Warburg Micro Syndrome - DNA SEQ - 1 Turkish/Saudi-Arabian - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.748+1G>A
    + c.748+1G>A
- - - - RAB3GAP1_00010 RAB3GAP1_0906 Warburg Micro Syndrome - DNA SEQ - 1 Turkish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.748+1G>A
    + c.748+1G>A
- - - - RAB3GAP1_00010 RAB3GAP1_0907 Warburg Micro Syndrome - DNA SEQ - 1 Turkish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.748+1G>A
    + c.748+1G>A
- - - - RAB3GAP1_00010 RAB3GAP1_0508 Warburg Micro Syndrome - DNA SEQ - 1 Turkish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.899+1G>A
    + c.899+1G>A
- - - - RAB3GAP1_00003 RAB3GAP1_0031 Warburg Micro Syndrome - DNA SEQ - 1 British female Autosomal Recessive Familial Autosomal Recessive - - - -
+/+ DNA SEQ - c.899+1G>A
    + c.899+1G>A
- - - - RAB3GAP1_00031 RAB3GAP1_0131 Warburg Micro Syndrome - DNA SEQ - 1 Egyptian - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.899+1G>A
    + c.2055_2056insGCTCTCAGATATGGAGTCT
- - - - RAB3GAP1_00003 RAB3GAP1_0032 Warburg Micro Syndrome Seemanova and Lesny. Am J Med Genet. 1996 Dec 11;66(2):179-83. DNA SEQ - 1 Czech male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ - c.1237-2A>G
    + c.1237-2A>G
- - - - RAB3GAP1_00064 RAB3GAP1_0953 Warburg Micro Syndrome - DNA SEQ - 1 - - Autosomal Recessive Familial - - - - -
+?/+? DNA SEQ 1 c.9delC
    + c.9delC
- p.Asp4Thrfs*51 - - RAB3GAP1_00006 RAB3GAP1_0044 Martsolf syndrome - DNA SEQ - 1 Egyptian - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 2 c.52A>C
    + c.52A>C
- p.Thr18Pro - - RAB3GAP1_00001 RAB3GAP1_0014 Warburg Micro Syndrome - DNA SEQ - 1 Turkish male Autosomal Recessive - - - - - -
+/+ DNA SEQ 2 c.52A>C
    + c.52A>C
- p.Thr18Pro - - RAB3GAP1_00002 RAB3GAP1_0015 Warburg Micro Syndrome - DNA SEQ - 1 Pakistani - Autosomal Recessive Familial - - - - -
+?/+? DNA SEQ 2 c.52A>C
    + c.52A>C
- p.Thr18Pro - - RAB3GAP1_00011 RAB3GAP1_0066 Warburg Micro Syndrome - DNA SEQ - 1 Pakistani - - Familial Autosomal Recessive - - - -
+/+ DNA SEQ 2 c.52A>C
    + c.52A>C
- p.Thr18Pro - - RAB3GAP1_00001 RAB3GAP1_0951 Warburg Micro Syndrome - DNA SEQ - 1 Pakistani - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 2 c.69G>A
    + c.401_407delCACACAG
- p.Trp23* - - RAB3GAP1_00047 RAB3GAP1_0513 Warburg Micro Syndrome - DNA SEQ - 1 French - Autosomal Recessive Familial - - - - -
+?/+? DNA SEQ 2 c.71A>T
    + c.71A>T
- p.Glu24Val - - RAB3GAP1_00008 RAB3GAP1_0062 Warburg Micro Syndrome - DNA SEQ - 1 Egyptian female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 3 c.82delT
    + c.82delT
- p.Ser28Profs*7 - - RAB3GAP1_00056 RAB3GAP1_0903 Warburg Micro Syndrome - DNA SEQ - 1 Egyptian - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 3 c.129delT
    + c.129delT
- p.Leu44Trpfs*49 - - RAB3GAP1_00044 RAB3GAP1_0140 Micro syndrome - DNA SEQ - 1 Indian male Autosomal Recessive Familial - - - - -
+/+ DNA PCR 4-5 c.151_362del
    + c.151_362del
- p.Gly51Valfs*4 - - RAB3GAP1_00045 RAB3GAP1_0147 Micro syndrome - DNA SEQ - 1 Algerian male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 4 c.264_270delAAAGGATinsTTATTA
    + c.264_270delAAAGGATinsTTATTA
- p.Lys89Tyrfs*2 - - RAB3GAP1_00037 RAB3GAP1_0505 Warburg Micro Syndrome Morris-Rosendahl DJ et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6 DNA SEQ Patient 6: Morris-Rosendahl DJ et al. 1 Guatemalan male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 4 c.264_270delAAAGGATinsTTATTA
    + c.264_270delAAAGGATinsTTATTA
- p.Lys89Tyrfs*2 - - RAB3GAP1_00038 RAB3GAP1_0506 Warburg Micro Syndrome Morris-Rosendahl DJ et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6 DNA SEQ Patient 7: Morris-Rosendahl DJ et al. 1 Guatemalan female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 4 c.280G>T
    + c.748+1G>A
- p.Glu94* - - RAB3GAP1_00049 RAB3GAP1_0514 Warburg Micro Syndrome - DNA SEQ - 1 Turkish/Saudi-Arabian - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 6 c.401_407delCACACAG
    + c.69G>A
- p.Ala134Valfs*14 - - RAB3GAP1_00048 RAB3GAP1_0513 Warburg Micro Syndrome - DNA SEQ - 1 French - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 6 c.473delA
    + c.150+1G>C
- p.Phe158Thrfs*21 - - RAB3GAP1_00020 RAB3GAP1_0078 Warburg Micro Syndrome - DNA SEQ - 1 American male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 6 c.475_478delACTG
    + c.475_478delACTG
- p.Thr159Alafs*18 - - RAB3GAP1_00009 RAB3GAP1_0063 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K4:Aligianis IA et al. 1 - female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 6 c.475_478delACTG
    + c.475_478delACTG
- p.Thr159Alafs*18 - - RAB3GAP1_00009 RAB3GAP1_0515 Warburg Micro Syndrome - DNA SEQ - 1 Moroccan - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 7 c.520C>T
    + c.657delT
- p.Arg174* - - RAB3GAP1_00053 RAB3GAP1_0512 Warburg Micro Syndrome - DNA SEQ - 1 American Spanish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 7 c.641delC
    + c.641delC
- p.Ser214* - - RAB3GAP1_00055 RAB3GAP1_0902 Warburg Micro Syndrome - DNA SEQ - 1 Israeli Muslim Arab - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 8 c.657delT
    + c.520C>T
- p.Leu220* - - RAB3GAP1_00054 RAB3GAP1_0512 Warburg Micro Syndrome - DNA SEQ - 1 American Spanish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 8 c.665delC
    + c.665delC
- p.Pro222Hisfs*29 - - RAB3GAP1_00039 RAB3GAP1_0018 Micro syndrome - DNA SEQ - 1 Turkish male - Familial - - - - -
+/+ DNA SEQ 8 c.691C>T
    + c.1039C>T
- p.Arg231* - - RAB3GAP1_00051 RAB3GAP1_0901 Warburg Micro Syndrome - DNA SEQ - 1 British Caucasian - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 8 c.748+1G>A
    + c.748+1G>A
- - - - RAB3GAP1_00010 RAB3GAP1_0079 Micro syndrome - DNA SEQ - 1 - - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 8 c.748+2T>G
    + c.748+2T>G
- - - - RAB3GAP1_00042 RAB3GAP1_0133 Micro syndrome - DNA SEQ - 1 Egyptian - Autosomal Recessive - - - - - -
+/+ DNA SEQ 11 c.929G>A - p.Trp310* - - RAB3GAP1_00025 RAB3GAP1_0090 Warburg Micro Syndrome - DNA SEQ - 1 White European male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 12 c.1039C>T
    + c.1039C>T
- p.Arg347* - - RAB3GAP1_00013 RAB3GAP1_0069 Warburg Micro Syndrome - DNA SEQ - 1 Egyptian male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 12 c.1003delT
    + c.1003delT
- p.Cys335Alafs*26 - - RAB3GAP1_00019 RAB3GAP1_0077 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K14 : Aligianis et al. 1 Pakistani male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 12 c.1039C>T
    + c.691C>T
- p.Arg347* - - RAB3GAP1_00052 RAB3GAP1_0901 Warburg Micro Syndrome - DNA SEQ - 1 British Caucasian - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 13 c.1174C>T
    + c.1174C>T
- p. Arg392* - - RAB3GAP1_00014 RAB3GAP1_0071 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K13: Aligianis IA et al. 1 South African male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 13 c.1174C>T
    + c.1174C>T
- p.Arg392* - - RAB3GAP1_00018 RAB3GAP1_0071 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K13: Aligianis et al. 1 South African male Autosomal Recessive Familial - - - - -
?/+ DNA SEQ 14 c.1293_1294delTA
    + c.1293_1294delTA
- p.Asp431Glufs*1 - - RAB3GAP1_00043 RAB3GAP1_0138 Micro syndrome - DNA SEQ - 1 - - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 14 c.1326T>G
    + c.1326T>G
- p.Tyr442* - - RAB3GAP1_00012 RAB3GAP1_0067 Warburg Micro Syndrome - DNA SEQ - 1 Indian male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 15 c.1335delC
    + c.1335delC
- p.Tyr445* - - RAB3GAP1_00057 RAB3GAP1_0510 Warburg Micro Syndrome - DNA SEQ - 1 Turkish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 15 c.1339C>T
    + c.1339C>T
- p.Gln447* - - RAB3GAP1_00005 RAB3GAP1_0041 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K1: Aligianis IA et al 1 Pakistani male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 15 c.1389T>A
    + c.2103G>A
- p.Cys463* - - RAB3GAP1_00058 RAB3GAP1_0511 Warburg Micro Syndrome - DNA SEQ - 1 German - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 15 c.1410C>A
    + c.1410C>A
- p.Tyr470* - - RAB3GAP1_00036 RAB3GAP1_0504 Warburg Micro Syndrome Morris-Rosendahl DJ et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6 DNA SEQ Patient 5: Morris-Rosendahl DJ et al. 1 Danish female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 15 c.1417_1423delGGGTTGA
    + c.1417_1423delGGGTTGA
- p.Gly473Lysfs*23 - - RAB3GAP1_00060 RAB3GAP1_0904 Warburg Micro Syndrome - DNA SEQ - 1 Pakistani - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 15 c.1471C>T
    + c.1471C>T
- p.Arg491* - - RAB3GAP1_00032 RAB3GAP1_0500 Warburg Micro Syndrome Morris-Rosendahl DJ et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6 DNA SEQ Patient 1:Morris-Rosendahl DJ et al. 1 Turkish female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 17 c.1725G>A
    + c.1725G>A
- p.Trp575* - - RAB3GAP1_00046 RAB3GAP1_0105 Micro syndrome - DNA SEQ - 1 - - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 17 c.1734G>A
    + c.1734G>A
- p.Arg392* - - RAB3GAP1_00024 RAB3GAP1_0089 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K15: Aligianis et al. 1 Mexican - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 17 c.1786_1789delAAAG
    + c.1786_1789delAAAG
- p.Lys596Glufs*18 - - RAB3GAP1_00034 RAB3GAP1_0502 Warburg Micro Syndrome Morris-Rosendahl DJ et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6 DNA SEQ - 1 Palestinian male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 17 c.1786_1789delAAAG
    + c.1786_1789delAAAG
- p.Lys596Glufs*18 - - RAB3GAP1_00035 RAB3GAP1_0503 Warburg Micro Syndrome Morris-Rosendahl DJ et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6 DNA SEQ Patient 4: Morris-Rosendahl DJ et al. 1 Palestinian male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 18 c.2011C>T
    + c.2011C>T
- p.Arg671* - - RAB3GAP1_00015 RAB3GAP1_0072 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ K11: Aligianis et al 1 Lebanese - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 18 c.2055_2056insGCTCTCAGATATGGAGTCT
    + c.899+1G>A
- Phe686Alafs*20 - - RAB3GAP1_00062 RAB3GAP1_0032 Warburg Micro Syndrome Seemanova and Lesny. Am J Med Genet. 1996 Dec 11;66(2):179-83. DNA SEQ - 1 Czech male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 19 c.2103G>A
    + c.1389T>A
- p.Trp701* - - RAB3GAP1_00059 RAB3GAP1_0511 Warburg Micro Syndrome - DNA SEQ - 1 German - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 20 c.2343_2347delACCTT
    + c.2343_2347delACCTT
- p.Pro782Cysfs*22 - - RAB3GAP1_00023 RAB3GAP1_0078 Warburg Micro Syndrome - DNA SEQ - 1 - male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 22 c.2491G>T
    + c.2491G>T
- p. Glu831* - - RAB3GAP1_00063 RAB3GAP1_0952 Warburg Micro Syndrome - DNA SEQ - 1 German - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 23 c.2629C>T
    + c.2629C>T
- p.Gln877* - - RAB3GAP1_00061 RAB3GAP1_0905 Warburg Micro Syndrome - DNA SEQ - 1 British Caucasian - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 24 c.2710_2946del
    + c.2710_2946del
- p.Arg904_*982del - - RAB3GAP1_00065 RAB3GAP1_0954 Warburg Micro Syndrome - DNA SEQ - 1 - - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 24 c. 2801delC
    + c. 2801delC
- p.Pro934Leufs*87 - - RAB3GAP1_00027 RAB3GAP1_0118 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K2: Aligainis et al. 1 Pakistani female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 24 c. 2801delC
    + c. 2801delC
- p.Pro934Leufs*87 - - RAB3GAP1_00030 RAB3GAP1_0130 Warburg Micro Syndrome Aligianis IA et al. Nat Genet. 2005 Mar;37(3):221-3 DNA SEQ Family K3: Aligianis et al. 1 Pakistani female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 24 c. 2801delC
    + c. 2801delC
- p.Pro934Leufs*87 - - RAB3GAP1_00027 RAB3GAP1_0149 Micro syndrome - DNA SEQ - 1 Pakistani female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 24 c.2865_2868insTTCT
    + c.2865_2868insTTCT
- Pro955Serfs*15 - - RAB3GAP1_00007 RAB3GAP1_0050 Warburg Micro Syndrome - DNA SEQ - 1 Indian female Autosomal Recessive Familial - - - - -
1 - 70

Legend: [ RAB3GAP1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein change: Variation at protein level. RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism. RAB3GAP1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal patient reference Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference/Submitter: Links to PubMed ID (if available) and Submitter ID Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Population: Patient population Gender: Patient gender Sequence Inheritance: Sequence Inheritance Phenotype Inheritance: Phenotype Inheritance Second PCR: Second PCR CIS: Other Mutation in Cis Conserved residue: Variation affects conserved base or amino acid Related Phenotype: Related Phenotype Unrelated Phenotype: Unrelated Phenotype