All individuals with variants in gene CACNA1F

456 entries on 5 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 11 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 11 1 Yu Sun
00032854 - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00032855 - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - 0 - - MRX;IDX - 1 55 Johan den Dunnen
00032856 - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00032857 - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00032858 - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - 0 - - MRX;IDX - 1 53 Johan den Dunnen
00032859 - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00032860 - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - 0 - - MRX;IDX - 1 5 Johan den Dunnen
00032861 - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00033105 - - - M - - - - 0 - - retinal disease - 1 1 Kornelia Neveling
00033107 - - - F - - - - 0 - - retinal disease - 2 1 Kornelia Neveling
00033109 - PubMed: Neveling 2012 - F no - - - 0 - - retinal disease - 1 1 Kornelia Neveling
00033113 - - - F - - - - 0 - - retinal disease - 1 1 Kornelia Neveling
00033116 - - - F - - - - 0 - - retinal disease - 1 1 Kornelia Neveling
00033118 - - - F - - - - 0 - - retinal disease - 1 1 Kornelia Neveling
00033135 - - - F - - - - 0 - - retinal disease - 1 1 Kornelia Neveling
00033136 - - - M - - - - 0 - - retinal disease congenital stationary night blindness 1 1 Kornelia Neveling
00033142 - - - M - - - - 0 - - retinal disease age-related mild hearing loss, psoriasis 1 1 Kornelia Neveling
00039402 - PubMed: Bosch 2016, Journal: Bosch 2016 - M - Netherlands - - 0 - - CVI, ID see paper; ... 1 1 Danielle Bosch
00088177 NYS-002 PubMed: Thomas 2017, Journal: Thomas 2017 2-generation family, 5 affected (5M), unaffected heterozygous carrier females M - United Kingdom (Great Britain) - - 0 - - CSNB BCVA - 0.48 LogMAR Rotary Nystagmus 1 5 Mervyn Thomas
00088180 NYS-004 PubMed: Thomas 2017, Journal: Thomas 2017 2-generation family, 1 affected M - United Kingdom (Great Britain) - - 0 - - CSNB BCVA 0.30 Horizontal Jerk nystagmus 1 1 Mervyn Thomas
00246569 FamA PubMed: Zeitz 2019, Journal: Zeitz 2019 3-generation family, 1 affected (M), unaffected carrier females M - - - - 0 - - CSNB see paper; … 1 1 Christina Zeitz
00246570 FamB PubMed: Zeitz 2019, Journal: Zeitz 2019 2-generation family, 1 affected (M), unaffected carrier female M - - - - 0 - - CSNB see paper; … 1 1 Christina Zeitz
00246571 FamC PubMed: Zeitz 2019, Journal: Zeitz 2019 3-generation family, 2 affected (2M), unaffected carrier female M - - - - 0 - - CSNB see paper; … 1 2 Christina Zeitz
00246572 FamD PubMed: Zeitz 2019, Journal: Zeitz 2019 2-generation family, 1 affected (M) M - - - - 0 - - CSNB see paper; … 1 1 Christina Zeitz
00246573 FamE PubMed: Zeitz 2019, Journal: Zeitz 2019 2-generation family, 2 affected brothers M - - - - 0 - - CSNB see paper; … 1 2 Christina Zeitz
00246574 FamF PubMed: Menke 2016 2-generation family, 1 affected (M) M - - - - 0 - - CSNB see paper; … 1 1 Christina Zeitz
00246575 FamG PubMed: Menke 2016 2-generation family, 1 affected (M) M - - - - 0 - - CSNB see paper; … 1 1 Christina Zeitz
00295071 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00308488 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308489 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308490 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308665 - PubMed: Kim 2019 - - - Korea - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309001 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309002 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309003 - PubMed: Sharon 2019 5 IRD families - - Israel - - 0 - - retinal disease - 1 5 Global Variome, with Curator vacancy
00309004 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309005 - PubMed: Sharon 2019 2 IRD families - - Israel - - 0 - - retinal disease - 1 2 Global Variome, with Curator vacancy
00309006 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309007 - PubMed: Sharon 2019 2 IRD families - - Israel - - 0 - - retinal disease - 1 2 Global Variome, with Curator vacancy
00309008 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309009 - PubMed: Sharon 2019 2 IRD families - - Israel - - 0 - - retinal disease - 1 2 Global Variome, with Curator vacancy
00309010 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309011 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309012 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309013 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00319837 - PubMed: Zito 2003 - - - - - - 0 - - retinal disease - 1 1 Julia Lopez
00319838 - PubMed: Zito 2003 - - - - - - 0 - - retinal disease - 1 1 Julia Lopez
00319839 - PubMed: Zito 2003 - - - - - - 0 - - retinal disease - 1 1 Julia Lopez
00324341 - - - M - - - - 0 - - ? Rod-cone dystrophy (HP:0000510) 1 1 IMGAG
00326671 - PubMed: Zeitz 2005 - - - Netherlands Dutch - 0 - - retinal disease - 1 1 Julia Lopez
00326672 - PubMed: Zeitz 2005 - - - Netherlands Dutch - 0 - - retinal disease - 1 1 Julia Lopez
00326673 - PubMed: Zeitz 2005 - - - Netherlands Dutch - 0 - - retinal disease - 1 1 Julia Lopez
00326674 - PubMed: Zeitz 2005 - - - Netherlands Dutch - 0 - - retinal disease - 1 1 Julia Lopez
00326675 - PubMed: Zeitz 2005 - - - Netherlands Dutch - 0 - - retinal disease - 1 1 Julia Lopez
00327695 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327696 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - Israel - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327697 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327698 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327699 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327700 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327701 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327702 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327703 - PubMed: Zeitz 2019, Journal: Zeitz 2019, PubMed: Zeitz 2015 - - - Belgium - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327704 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327705 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327706 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327707 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327708 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327709 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327710 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327711 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327712 690322 PubMed: Zhou 2018 - M - China - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327713 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327714 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327715 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327716 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327717 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327718 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - Belgium - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327719 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - United Kingdom (Great Britain) - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327720 G001426 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327721 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327722 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327723 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - Belgium - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327724 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327725 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - Germany - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327726 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - United Kingdom (Great Britain) - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327727 13013040 PubMed: Taylor 2017 family history retinal disease M - United Kingdom (Great Britain) - - 0 - - retinal disease see paper; ..., congenital stationary night blindness (HP:0007642) 1 1 Christina Zeitz
00327728 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - Belgium - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327729 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327730 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327731 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327732 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327733 - PubMed: Zeitz 2019, Journal: Zeitz 2019, PubMed: Zeitz 2015 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327734 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327735 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327736 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327737 - PubMed: Zeitz 2015 - - - - - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
00327738 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - Germany - - 0 - - retinal disease see paper; ... 1 1 Christina Zeitz
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