All variants in the KCNJ13 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002242.4 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-80387C>T r.(?) p.(=) - benign g.233721525G>A g.232856815G>A GIGYF2(NM_001103147.2):c.3918G>A (p.S1306=) - GIGYF2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-80378A>G r.(?) p.(=) - likely benign g.233721516T>C g.232856806T>C GIGYF2(NM_015575.3):c.3846T>C (p.N1282=) - GIGYF2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-73923C>T r.(?) p.(=) - likely benign g.233715061G>A g.232850351G>A GIGYF2(NM_001103147.1):c.3837G>A (p.V1279=) - GIGYF2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-71158C>T r.(?) p.(=) - benign g.233712296G>A g.232847586G>A GIGYF2(NM_001103147.1):c.3747+15G>A, GIGYF2(NM_015575.4):c.3684+15G>A - GIGYF2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-71158C>T r.(?) p.(=) - benign g.233712296G>A g.232847586G>A GIGYF2(NM_001103147.1):c.3747+15G>A, GIGYF2(NM_015575.4):c.3684+15G>A - GIGYF2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.-71158C>T r.(?) p.(=) - benign g.233712296G>A g.232847586G>A GIGYF2(NM_001103147.1):c.3747+15G>A, GIGYF2(NM_015575.4):c.3684+15G>A - GIGYF2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-71136T>G r.(?) p.(=) - likely benign g.233712274A>C g.232847564A>C GIGYF2(NM_001103147.1):c.3740A>C (p.Q1247P) - GIGYF2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-71113_-71102del r.(?) p.(=) - VUS g.233712260_233712271del g.232847550_232847561del GIGYF2(NM_015575.3):c.3663_3674delGCCACAGCAGCC (p.P1222_P1225del) - GIGYF2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-71110C>T r.(?) p.(=) - benign g.233712248G>A g.232847538G>A GIGYF2(NM_001103147.1):c.3714G>A (p.P1238=), GIGYF2(NM_001103147.2):c.3714G>A (p.P1238=), GIGYF2(NM_015575.4):c.3651G>A (p.P1217=) - GIGYF2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-71110C>T r.(?) p.(=) - benign g.233712248G>A g.232847538G>A GIGYF2(NM_001103147.1):c.3714G>A (p.P1238=), GIGYF2(NM_001103147.2):c.3714G>A (p.P1238=), GIGYF2(NM_015575.4):c.3651G>A (p.P1217=) - GIGYF2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.-71110C>T r.(?) p.(=) - benign g.233712248G>A g.232847538G>A GIGYF2(NM_001103147.1):c.3714G>A (p.P1238=), GIGYF2(NM_001103147.2):c.3714G>A (p.P1238=), GIGYF2(NM_015575.4):c.3651G>A (p.P1217=) - GIGYF2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-71106T>G r.(?) p.(=) - benign g.233712244A>C g.232847534A>C GIGYF2(NM_015575.3):c.3647A>C (p.Q1216P) - GIGYF2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-71104C>T r.(?) p.(=) - likely benign g.233712242G>A - GIGYF2(NM_015575.3):c.3645G>A (p.Q1215=) - GIGYF2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-71097T>G r.(?) p.(=) - likely benign g.233712235A>C g.232847525A>C GIGYF2(NM_015575.3):c.3638A>C (p.Q1213P) - GIGYF2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-71092_-71090dup r.(?) p.(=) - VUS g.233712244_233712246dup g.232847534_232847536dup GIGYF2(NM_015575.3):c.3647_3649dupAGC (p.Q1216dup) - GIGYF2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-71092_-71072del r.(?) p.(=) - likely benign g.233712223_233712243del g.232847513_232847533del GIGYF2(NM_001103147.2):c.3689_3709delTGCCACAGCAGCAGCAGCAGC (p.L1230_Q1236del), GIGYF2(NM_015575.4):c.3626_3646delTGCCACAGCAGCAGCAGCAGC (p.L1209_Q1...) - GIGYF2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.-71092_-71072del r.(?) p.(=) - benign g.233712223_233712243del g.232847513_232847533del GIGYF2(NM_001103147.2):c.3689_3709delTGCCACAGCAGCAGCAGCAGC (p.L1230_Q1236del), GIGYF2(NM_015575.4):c.3626_3646delTGCCACAGCAGCAGCAGCAGC (p.L1209_Q1...) - GIGYF2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-71091_-71089del r.(?) p.(=) - likely benign g.233712227_233712229del g.232847517_232847519del GIGYF2(NM_001103147.1):c.3693_3695delACA (p.Q1237del), GIGYF2(NM_001103147.2):c.3693_3695delACA (p.Q1237del), GIGYF2(NM_015575.4):c.3630_3632delACA... - GIGYF2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-71091_-71089del r.(?) p.(=) - benign g.233712227_233712229del g.232847517_232847519del GIGYF2(NM_001103147.1):c.3693_3695delACA (p.Q1237del), GIGYF2(NM_001103147.2):c.3693_3695delACA (p.Q1237del), GIGYF2(NM_015575.4):c.3630_3632delACA... - GIGYF2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-71091_-71089del r.(?) p.(=) - likely benign g.233712227_233712229del - GIGYF2(NM_001103147.1):c.3693_3695delACA (p.Q1237del), GIGYF2(NM_001103147.2):c.3693_3695delACA (p.Q1237del), GIGYF2(NM_015575.4):c.3630_3632delACA... - GIGYF2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-71090_-71089insC r.(?) p.(=) - likely benign g.233712227_233712228insG g.232847517_232847518insG GIGYF2(NM_001103147.2):c.3693_3694insG (p.Q1232Afs*46) - GIGYF2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-71089T>C r.(?) p.(=) - likely benign g.233712227A>G g.232847517A>G GIGYF2(NM_001103147.1):c.3693A>G (p.P1231=) - GIGYF2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-71089_-71088insTGC r.(?) p.(=) - VUS g.233712226_233712227insGCA g.232847516_232847517insGCA GIGYF2(NM_001103147.1):c.3693_3695delACAinsGCAACA (p.Q1237dup) - GIGYF2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-71088_-71087insCG r.(?) p.(=) - benign g.233712226_233712227insGC g.232847516_232847517insGC GIGYF2(NM_015575.3):c.3629_3630insGC (p.Q1211Hfs*25), GIGYF2(NM_015575.4):c.3629_3630insGC (p.Q1211Hfs*25) - GIGYF2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-71088_-71087insCG r.(?) p.(=) - likely benign g.233712226_233712227insGC g.232847516_232847517insGC GIGYF2(NM_015575.3):c.3629_3630insGC (p.Q1211Hfs*25), GIGYF2(NM_015575.4):c.3629_3630insGC (p.Q1211Hfs*25) - GIGYF2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.-71040C>T r.(?) p.(=) - VUS g.233712178G>A g.232847468G>A GIGYF2(NM_015575.3):c.3581G>A (p.R1194H) - GIGYF2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-70971T>C r.(?) p.(=) - VUS g.233712109A>G g.232847399A>G GIGYF2(NM_015575.3):c.3512A>G (p.H1171R) - GIGYF2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-70911C>T r.(?) p.(=) - benign g.233712049G>A g.232847339G>A GIGYF2(NM_001103147.1):c.3524-9G>A, GIGYF2(NM_015575.4):c.3461-9G>A - GIGYF2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-70911C>T r.(?) p.(=) - benign g.233712049G>A g.232847339G>A GIGYF2(NM_001103147.1):c.3524-9G>A, GIGYF2(NM_015575.4):c.3461-9G>A - GIGYF2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.-70911C>T r.(?) p.(=) - benign g.233712049G>A g.232847339G>A GIGYF2(NM_001103147.1):c.3524-9G>A, GIGYF2(NM_015575.4):c.3461-9G>A - GIGYF2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-67945G>C r.(?) p.(=) - VUS g.233709083C>G g.232844373C>G GIGYF2(NM_001103146.3):c.3104C>G (p.S1035C), GIGYF2(NM_015575.3):c.3104C>G (p.S1035C) - GIGYF2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-67945G>C r.(?) p.(=) - VUS g.233709083C>G - GIGYF2(NM_001103146.3):c.3104C>G (p.S1035C), GIGYF2(NM_015575.3):c.3104C>G (p.S1035C) - GIGYF2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-67833del r.(?) p.(=) - VUS g.233708971del g.232844261del GIGYF2(NM_015575.3):c.3099+6delT - GIGYF2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-67668T>C r.(?) p.(=) - benign g.233708806A>G g.232844096A>G GIGYF2(NM_001103147.1):c.3003A>G (p.Q1001=), GIGYF2(NM_001103147.2):c.3003A>G (p.Q1001=), GIGYF2(NM_015575.4):c.2940A>G (p.Q980=) - GIGYF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-67668T>C r.(?) p.(=) - benign g.233708806A>G g.232844096A>G GIGYF2(NM_001103147.1):c.3003A>G (p.Q1001=), GIGYF2(NM_001103147.2):c.3003A>G (p.Q1001=), GIGYF2(NM_015575.4):c.2940A>G (p.Q980=) - GIGYF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.-67668T>C r.(?) p.(=) - benign g.233708806A>G g.232844096A>G GIGYF2(NM_001103147.1):c.3003A>G (p.Q1001=), GIGYF2(NM_001103147.2):c.3003A>G (p.Q1001=), GIGYF2(NM_015575.4):c.2940A>G (p.Q980=) - GIGYF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-67655T>C r.(?) p.(=) - likely benign g.233708793A>G g.232844083A>G GIGYF2(NM_015575.3):c.2927A>G (p.Q976R) - GIGYF2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-63536C>T r.(?) p.(=) - likely benign g.233704674G>A g.232839964G>A GIGYF2(NM_015575.3):c.2882G>A (p.R961Q) - GIGYF2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-63489C>A r.(?) p.(=) - likely benign g.233704627G>T g.232839917G>T GIGYF2(NM_015575.3):c.2835G>T (p.S945=) - GIGYF2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-63438C>G r.(?) p.(=) - likely benign g.233704576G>C g.232839866G>C GIGYF2(NM_015575.3):c.2784G>C (p.T928=) - GIGYF2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-56628_-56626dup r.(?) p.(=) - VUS g.233697779_233697781dup g.232833069_232833071dup GIGYF2(NM_001103147.1):c.2805_2807dupGCA (p.Q938dup) - GIGYF2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-56454C>T r.(?) p.(=) - likely benign g.233697592G>A - GIGYF2(NM_001103146.1):c.2555G>A (p.(Arg852Gln)) - GIGYF2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-35954G>A r.(?) p.(=) - likely benign g.233677092C>T - GIGYF2(NM_015575.3):c.2007-9C>T - GIGYF2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-34930C>T r.(?) p.(=) - likely benign g.233676068G>A g.232811358G>A GIGYF2(NM_015575.3):c.2006+7G>A - GIGYF2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-34822T>C r.(?) p.(=) - likely benign g.233675960A>G g.232811250A>G GIGYF2(NM_015575.3):c.1905A>G (p.Q635=) - GIGYF2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-33333G>A r.(?) p.(=) - likely benign g.233674471C>T - GIGYF2(NM_015575.3):c.1848C>T (p.L616=) - GIGYF2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-30139C>A r.(?) p.(=) - likely benign g.233671277G>T g.232806567G>T GIGYF2(NM_001103147.1):c.1779G>T (p.A593=) - GIGYF2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-19728G>A r.(?) p.(=) - VUS g.233660866C>T g.232796156C>T GIGYF2(NM_015575.3):c.1574C>T (p.S525L) - GIGYF2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-19708C>T r.(?) p.(=) - benign g.233660846G>A g.232796136G>A GIGYF2(NM_001103147.1):c.1617G>A (p.E539=), GIGYF2(NM_015575.4):c.1554G>A (p.E518=) - GIGYF2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-19708C>T r.(?) p.(=) - likely benign g.233660846G>A g.232796136G>A GIGYF2(NM_001103147.1):c.1617G>A (p.E539=), GIGYF2(NM_015575.4):c.1554G>A (p.E518=) - GIGYF2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-18415G>T r.(?) p.(=) - likely benign g.233659553C>A g.232794843C>A GIGYF2(NM_001103147.2):c.1441C>A (p.P481T) - GIGYF2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-18407T>G r.(?) p.(=) - likely benign g.233659545A>C g.232794835A>C GIGYF2(NM_015575.3):c.1370A>C (p.N457T) - GIGYF2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-15024A>G r.(?) p.(=) - VUS g.233656162T>C - GIGYF2(NM_015575.3):c.1282+6T>C - GIGYF2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-14998T>C r.(?) p.(=) - likely benign g.233656136A>G g.232791426A>G GIGYF2(NM_015575.3):c.1262A>G (p.K421R) - GIGYF2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-14974C>T r.(?) p.(=) - likely benign g.233656112G>A g.232791402G>A GIGYF2(NM_001103147.1):c.1301G>A (p.R434Q) - GIGYF2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-14696A>T r.(?) p.(=) - likely benign g.233655834T>A g.232791124T>A GIGYF2(NM_001103146.1):c.1047T>A (p.(Asp349Glu)), GIGYF2(NM_015575.3):c.1047T>A (p.D349E) - GIGYF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-14696A>T r.(?) p.(=) - likely benign g.233655834T>A - GIGYF2(NM_001103146.1):c.1047T>A (p.(Asp349Glu)), GIGYF2(NM_015575.3):c.1047T>A (p.D349E) - GIGYF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-14375G>A r.(?) p.(=) - likely benign g.233655513C>T g.232790803C>T GIGYF2(NM_001103147.2):c.884C>T (p.S295F) - GIGYF2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.-14346A>T r.(?) p.(=) - VUS g.233655484T>A - GIGYF2(NM_001103146.3):c.789T>A (p.D263E) - GIGYF2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.134G>C r.(?) p.(Trp45Ser) - VUS g.233635939C>G - KCNJ13(NM_002242.4):c.134G>C (p.W45S) - GIGYF2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.158G>A r.(?) p.(Trp53*) - likely pathogenic g.233635915C>T g.232771205C>T KCNJ13 c.158G>A, p.(Trp53*) - KCNJ13_000001 homozygous PubMed: Pattnaik 2015 - - Germline yes - - - - LOVD
-?/. - c.315T>C r.(?) p.(Ser105=) - likely benign g.233635758A>G - KCNJ13(NM_002242.4):c.315T>C (p.S105=) - GIGYF2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.350A>G r.(?) p.(Gln117Arg) - likely pathogenic g.233635723T>C g.232771013T>C - - KCNJ13_000005 not in 382 control chromosomes; in heterozygous state not disease associated PubMed: Sergouniotis 2011 - - Unknown - 1/335 cases - - - Johan den Dunnen
+/. 2 c.359T>C r.(?) p.(Ile120Thr) - likely pathogenic g.233635714A>G g.232771004A>G - - KCNJ13_000009 - PubMed: Khan 2015 - - Germline yes - - - - Johan den Dunnen
+/. 2 c.359T>C r.(?) p.(Ile120Thr) - pathogenic g.233635714A>G g.232771004A>G - - KCNJ13_000009 - PubMed: Khan 2015 - - Germline yes - - - - Johan den Dunnen
+?/. - c.359T>C r.(?) p.(Ile120Thr) - likely pathogenic g.233635714A>G g.232771004A>G - - KCNJ13_000009 - PubMed: Patel 2016 - - Germline - - - - - LOVD
+?/. - c.431T>C r.(?) p.(Leu144Pro) - likely pathogenic g.233635642A>G g.232770932A>G KCNJ13 c.431T>C p.(Leu144Pro) - GIGYF2_000058 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - LOVD
+?/. - c.458C>T r.(?) p.(Thr153Ile) - likely pathogenic (recessive) g.233635615G>A g.232770905G>A - - KCNJ13_000010 - PubMed: Bryant 2018 - rs863224884 Germline - - - - - LOVD
+?/. - c.458C>T r.(?) p.(Thr153Ile) - likely pathogenic g.233635615G>A g.232770905G>A NM_001172417.1:c.218C>T - KCNJ13_000010 r.(del-exon) effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - LOVD
+?/. - c.458C>T r.(?) p.(Thr153Ile) - likely pathogenic g.233635615G>A g.232770905G>A KCNJ13 c.458C>T, p.Thr153Ile - KCNJ13_000010 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - LOVD
+?/. - c.458C>T r.(?) p.(Thr153Ile) - likely pathogenic g.233635615G>A g.232770905G>A c.458C>T, p.Thr153Ile - KCNJ13_000010 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - LOVD
+/. 3 c.484C>T r.(?) p.(Arg162Trp) - pathogenic g.233633500G>A g.232768790G>A - - KCNJ13_000002 mapped by linkage analysis, candidate gene sequencing; not in 420 control chromosomes PubMed: Hejtmancik 2008, {OMIM:603208:0001} - rs121918542 Germline yes - - - - Johan den Dunnen
+?/. - c.484C>T r.(?) p.(Arg162Trp) - likely pathogenic g.233633500G>A g.232768790G>A KCNJ13(NM_002242.4):c.484C>T (p.R162W) - KCNJ13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 3 c.484C>T r.(?) p.(Arg162Trp) - likely pathogenic g.233633500G>A - c.484C>T - KCNJ13_000002 - PubMed: Maggi_2021 - - Germline yes - - - - LOVD
+?/. 3 c.485G>A r.(?) p.(Arg162Gln) - likely pathogenic g.233633499C>T g.232768789C>T - - KCNJ13_000006 not in 380 control chromosomes; in heterozygous state not associated with phenotype PubMed: Sergouniotis 2011 - - Unknown - 2/335 cases - - - Johan den Dunnen
?/. - c.485G>A r.(?) p.(Arg162Gln) - VUS g.233633499C>T g.232768789C>T KCNJ13 gene:c.[485G?>?A]; [?=], p.[Arg162Gln]; [?=] - KCNJ13_000006 - PubMed: Ruberto 2020 - - Germline ? - - - - LOVD
+/. 2 c.496C>T r.(?) p.(Arg166*) - pathogenic g.233633488G>A g.232768778G>A - - KCNJ13_000003 homozygosity mapping PubMed: Sergouniotis 2011, {OMIM:603208:0002} - - Germline yes - - - - Johan den Dunnen
-/. 3 c.524C>T r.(?) p.(Thr175Ile) - benign g.233633460G>A g.232768750G>A - - KCNJ13_000008 - PubMed: Sergouniotis 2011 - rs180125 Unknown - - - - - Johan den Dunnen
-/. 3 c.524C>T r.(?) p.(Thr175Ile) - benign g.233633460G>A g.232768750G>A - - KCNJ13_000008 212/670 recessive retianl disease, 109/382 control chromosomes PubMed: Sergouniotis 2011 - rs1801251 Unknown - 321/1052 chromosomes - - - Johan den Dunnen
+?/. - c.655C>T r.(?) p.(Gln219*) - likely pathogenic g.233633329G>A g.232768619G>A KCNJ13 c.655C>T, p.(Gln219*) - GIGYF2_000059 homozygous PubMed: Perez-Roustit 2016 - - Germline yes - - - - LOVD
?/. - c.689G>A r.(?) p.(Ser230Asn) - VUS g.233633295C>T g.232768585C>T KCNJ13(NM_002242.4):c.689G>A (p.S230N) - GIGYF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.689G>A r.(?) p.(Ser230Asn) - likely benign g.233633295C>T g.232768585C>T KCNJ13(NM_002242.4):c.689G>A (p.S230N) - GIGYF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.722T>C r.(?) p.(Leu241Pro) - pathogenic g.233633262A>G g.232768552A>G - - KCNJ13_000004 not in 382 control chromomes PubMed: Sergouniotis 2011, {OMIM:603208:0003} - rs143607153 Germline yes - - - - Johan den Dunnen
+?/. 3 c.827A>C r.(?) p.(Glu276Ala) - likely pathogenic g.233633157T>G g.232768447T>G - - KCNJ13_000007 not in 380 control chromosomes; in heterozygous state not associated with phe PubMed: Sergouniotis 2011 - - Unknown - 1/335 cases - - - Johan den Dunnen
?/. - c.827A>C r.(?) p.(Glu276Ala) - VUS g.233633157T>G g.232768447T>G KCNJ13(NM_002242.4):c.827A>C (p.E276A) - KCNJ13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*14T>C r.(=) p.(=) - benign g.233632887A>G g.232768177A>G KCNJ13(NM_002242.4):c.*14T>C - GIGYF2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*11887G>A r.(=) p.(=) - VUS g.233621014C>T g.232756304C>T GIGYF2(NM_015575.3):c.349C>T (p.P117S) - GIGYF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*11897C>G r.(=) p.(=) - likely benign g.233621004G>C g.232756294G>C GIGYF2(NM_015575.3):c.339G>C (p.V113=) - GIGYF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*11916C>T r.(=) p.(=) - VUS g.233620985G>A - GIGYF2(NM_015575.3):c.320G>A (p.R107Q) - GIGYF2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*20451T>C r.(=) p.(=) - likely benign g.233612450A>G g.232747740A>G GIGYF2(NM_015575.3):c.167A>G (p.N56S) - GIGYF2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*20516C>T r.(=) p.(=) - likely benign g.233612385G>A g.232747675G>A GIGYF2(NM_001103147.1):c.102G>A (p.P34=) - GIGYF2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*20545T>C r.(=) p.(=) - likely benign g.233612356A>G g.232747646A>G GIGYF2(NM_015575.3):c.73A>G (p.T25A) - GIGYF2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*32997T>G r.(=) p.(=) - benign g.233599904A>C g.232735194A>C GIGYF2(NM_001103147.1):c.-4A>C - GIGYF2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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