All individuals

264 entries on 3 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Consanguinity     

Remarks     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000002 - F Iran yes Female, diagnosed as having MPS 1H at age 14 month. Molecular diagnosis at age 7 years old. Using NGS panel for metabolic disorders. MPS I - IDUA IDUA 1 1 Variome.ir
00000003 - M Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000004 - F Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000005 - M Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000006 - M Iran - - MPS II - IDS IDS 1 1 Variome.ir
00000007 - M Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000008 - F Iran - - MPS VI - ARSB ARSB 1 1 Variome.ir
00000009 - F Iran - - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000010 - F Iran yes - MPS IVB - GLB1 GLB1 1 1 Variome.ir
00000011 - M - - - MPS VI - ARSB ARSB 1 1 Variome.ir
00000012 - M Iran - - MPS VI - ARSB ARSB 1 1 Variome.ir
00000013 - F Iran yes - MPS IIIB - NAGLU NAGLU 1 1 Variome.ir
00000014 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000015 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000016 - M Iran - - MPS II - IDS IDS 1 1 Variome.ir
00000017 - M Afghanistan yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000018 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000019 - M Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000020 - M Iran yes - MPS IIIB - NAGLU NAGLU 1 1 Variome.ir
00000021 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000022 - M Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000023 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000024 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000025 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000026 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000027 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000029 - M Iran no - MPS II - IDS IDS 1 1 Variome.ir
00000030 - M Iran yes - MPS IIIA - SGSH SGSH 1 1 Variome.ir
00000031 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000032 - M Iran no - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000033 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000034 - F Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000035 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000036 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000037 - F Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000038 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000039 - F Iran no - MPS IVA - GALNS GALNS 2 1 Variome.ir
00000040 - F Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000041 - M Iran - - MPS II - IDS IDS 1 1 Variome.ir
00000042 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000043 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000044 - M Iran yes - MPS IVA - GALNS GALNS 2 1 Variome.ir
00000045 - F Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000046 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000047 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000048 - F Iran - - MPS I - IDUA IDUA 1 1 Variome.ir
00000049 - F Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000050 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000051 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000052 - F Iran - - MPS VI - ARSB ARSB 1 1 Variome.ir
00000053 - M Iran - - MPS IVA - GALNS GALNS 2 1 Variome.ir
00000054 - F Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000055 - M Iran no - MPS II - IDS IDS 1 1 Variome.ir
00000056 - M Iran no - MPS IIIB - NAGLU NAGLU 1 1 Variome.ir
00000057 - M Iran yes - HP3, MPS IVA - GALNS, HOGA1 GALNS, HOGA1 2 1 Variome.ir
00000058 - M Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000059 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000060 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000061 - F Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000062 - M Iran no - MPS II - IDS IDS 1 1 Variome.ir
00000063 - M Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000064 - M Iran yes - Sialidosis - NEU1 NEU1 1 1 Variome.ir
00000065 - M Iran - - MPS I - IDUA IDUA 2 1 Variome.ir
00000066 - M Iran yes - MPS IIIC - HGSNAT HGSNAT 1 1 Variome.ir
00000067 - M Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000068 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000069 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000070 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000071 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000072 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000073 - M Iran - - MPS VI - ARSB ARSB 1 1 Variome.ir
00000074 - M Iran no - MPS II - IDS IDS 1 1 Variome.ir
00000075 - M Afghanistan ? - MPS VI - GALNS GALNS 1 1 Variome.ir
00000076 - M Iran yes - MPS IIIA - SGSH SGSH 1 1 Variome.ir
00000077 - F Iran yes - MPS IIIC - HGSNAT HGSNAT 1 1 Variome.ir
00000078 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000079 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000080 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000081 - F Iran yes - ML III Gamma - GNPTG GNPTG 1 1 Variome.ir
00000082 - M Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000083 - F Iran yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000084 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000085 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000086 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000087 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000088 - M Afghanistan yes - MPS VI - ARSB ARSB 1 1 Variome.ir
00000089 - M Iran yes - MPS I - IDUA IDUA 2 1 Variome.ir
00000090 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000091 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000092 - M Afghanistan yes - ML III - GNPTAB GNPTAB 1 1 Variome.ir
00000093 - M Iran - - MPS VI - ARSB ARSB 1 1 Variome.ir
00000094 - F Iran - - MPS IIIB - NAGLU NAGLU 1 1 Variome.ir
00000095 - M Iran - - MPS II - IDS IDS 1 1 Variome.ir
00000096 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000097 - M Iran yes - MPS IIIA - SGSH SGSH 1 1 Variome.ir
00000098 - M Iran no - MPS VI - ARSB ARSB 2 1 Variome.ir
00000099 - M Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000100 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
00000101 - M Iran - - MPS I - IDUA IDUA 1 1 Variome.ir
00000102 - F Iran yes - MPS IVA - GALNS GALNS 1 1 Variome.ir
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