All individuals with variants in gene ACTG2

81 entries on 1 page. Showing entries 1 - 81.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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) 1 1 Yu Sun
00249760 - PubMed: Lehtonen 2012 5-generation family, 7 affected (3F, 4M) F;M - Finland - - - - - VSCM no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249761 family 1 PubMed: Thorson 2014 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - VSCM megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249762 family 2 PubMed: Thorson 2014 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249763 - PubMed: Holla 2014 2-generation family, 1 affected, father not available F - Norway - - - - - VSCM no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249764 Fam4-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - VSCM no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249765 Fam11-1 PubMed: Wangler 2014 - - - - - - - - - VSCM - 1 1 Johan den Dunnen
00249766 Fam12-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249767 Fam14-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - VSCM microcolon (HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249768 Fam16-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249769 Fam25-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249770 Fam26-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249771 Fam28-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - VSCM no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249772 Fam29-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249773 Fam30-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249774 Fam35-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249775 Fam13-1 PubMed: Wangler 2014 2-generation family, 1 affected, carrier mother F - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249776 Fam19-4 PubMed: Wangler 2014 2-generation family, 2 affected sisters F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 2 Johan den Dunnen
00249777 Fam34-1 PubMed: Wangler 2014 4-generation family, 6 affected (3F, 3M) F;M - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249778 Fam17-1 PubMed: Wangler 2014 - - - - - - - - - VSCM - 1 1 Johan den Dunnen
00249779 Family 1 PubMed: Tuzovic 2015 2-generation family, 2 affected (F, M), unaffected non-carrier parents F;M - United States - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249780 Family 2 PubMed: Tuzovic 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249781 Family 3 PubMed: Tuzovic 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249782 - PubMed: Klar 2015 1-generation family, 11 affected (5F, 6M) F;M - Sweden - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249783 S10 PubMed: Matera 2016 - F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249784 S13 PubMed: Matera 2016 - F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249785 S16 PubMed: Matera 2016 - F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249786 S8 PubMed: Matera 2016 - F - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249787 S9 PubMed: Matera 2016 - M - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249788 S11 PubMed: Matera 2016 - M - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249789 S12 PubMed: Matera 2016 - F - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249790 S14 PubMed: Matera 2016 - F - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249791 S24 PubMed: Matera 2016 - M - - - - - - - VSCM no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249792 S83 PubMed: Matera 2016 - F - - - - - - - VSCM no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249793 S1 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249794 S2 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249795 S3 PubMed: Halim 2016 2-generation family, 1 affected M - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249796 S4 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249797 S5 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249798 S6 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249799 S7 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249800 S8 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249801 Family 2 PubMed: Moreno 2016 2-generation family, 1 affected M - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249802 Family 3 PubMed: Moreno 2016 2-generation family, 1 affected F - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249803 Family 4 PubMed: Moreno 2016 2-generation family, 1 affected M - - - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249804 Family 5 PubMed: Moreno 2016 2-generation family, 1 affected F - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249805 Family 6 PubMed: Moreno 2016 2-generation family, 1 affected F - - - - - - - VSCM - 1 1 Johan den Dunnen
00249806 Patient 1 PubMed: Lu 2016 2-generation family, 1 affected F - China - - - - - VSCM megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249807 Patient 2 PubMed: Lu 2016 2-generation family, 1 affected M - China - - - - - VSCM megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249808 Patient 3 PubMed: Lu 2016 2-generation family, 1 affected F - China - - - - - VSCM megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249809 Patient 4 PubMed: Lu 2016 2-generation family, 1 affected M - China - - - - - VSCM megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249810 - PubMed: Milunsky 2017 2-generation family, 1 affected fetus - - United States - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249811 FamCase1 PubMed: Milunsky 2017 2-generation family, 2 affected F - United States - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249812 Case 3 PubMed: Milunsky 2017 2-generation family, 1 affected F - United States - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249813 Case 4 PubMed: Milunsky 2017 2-generation family, 1 affected M - United States - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249814 FamBCase5 PubMed: Milunsky 2017 2-generation family, 3 affected (3M) M - United States - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249815 Fam-mother PubMed: Whittington 2017 2-generation family, affected mother/son F - United States - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249816 Fam-son PubMed: Whittington 2017 son M - United States - - - - - VSCM - 1 1 Johan den Dunnen
00249817 - PubMed: Korgali 2018 - F - Turkey - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249818 1 PubMed: Lee 2019 - F - - - - - - - VSCM gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249819 2 PubMed: Lee 2019 - F - - - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249820 Fam1 PubMed: Ravenscroft 2018 3-generation family, 4 affected (4M) M - Australia - - - - - VSCM megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249821 Pat2 PubMed: Ravenscroft 2018 2-generation family, 1 affected M - Australia - - - - - VSCM no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249822 Pat3 PubMed: Ravenscroft 2018 2-generation family, 1 affected F - Australia - - - - - VSCM no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249823 Pat4 PubMed: Ravenscroft 2018 2-generation family, 1 affected M - Australia - - - - - VSCM gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249824 Pat5 PubMed: Ravenscroft 2018 2-generation family, 1 affected M - Australia - - - - - VSCM megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249825 Pat6 PubMed: Ravenscroft 2018 2-generation family, 1 affected M - Australia - - - - - VSCM megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249826 Pat19 PubMed: Ravenscroft 2018 2-generation family, 1 affected F - Australia - - - - - VSCM microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249827 Pat1 PubMed: Collins 2019 2-generation family, 1 affected M - United States - - - - - VSCM no microcolon (-HP:0004388); gastrointestinal problems (HP:0011024) 1 1 Johan den Dunnen
00249828 control PubMed: Wangler 2014 unaffected parent local WES database - - United States - - - - - Healthy/Control mild intermittent constipation, not requiring medications, no history of abdominal surgery, no bladder dysfunction 1 1 Johan den Dunnen
00249829 - PubMed: Wangler 2014 from local WES database - - United States - - - - - Healthy/Control - 1 2 Johan den Dunnen
00249830 - PubMed: Wangler 2014 from local WES database - - United States - - - - - Healthy/Control - 1 1 Johan den Dunnen
00249831 - PubMed: Wangler 2014 from local WES database - - United States - - - - - Healthy/Control - 1 2 Johan den Dunnen
00249832 - PubMed: Wangler 2014 from local WES database - - United States - - - - - Healthy/Control - 1 2 Johan den Dunnen
00249833 - PubMed: Wangler 2014 from local WES database - - United States - - - - - Healthy/Control - 1 1 Johan den Dunnen
00249834 - PubMed: Wangler 2014 from local WES database - - United States - - - - - Healthy/Control - 1 1 Johan den Dunnen
00292833 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295917 - - - M - - - - - - - ? Myopathy (HP:0003198) 1 1 Andreas Laner
00404572 194653 - prenatal trio-exom after ultra-sound abnormalities F no - - - - - - MMIHS Megacystis, Fetal megacystis, Hydronephrosis 1 1 Andreas Laner
00440402 PED3501.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
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