Unique variants in the CACNA1F gene

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

406 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+/. 1 17i_48_ c.()_*{0} r.? p.? - pathogenic g.(?_49061523)_(49077540_49078980)del g.(?_49205063)_(49221081_49222521)del del ex18-48 - CACNA1F_000190 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 - c.? r.(?) p.? - pathogenic g.? - CSNB2A (CACNA1F): p.Pro197AlafsX - USP9X_000005 - PubMed: Jacobson 2008 - - Unknown - - - - - LOVD
-?/. 1 - c.-3892C>G r.(?) p.(=) - likely benign g.49093663G>C g.49237196G>C CCDC22(NM_014008.4):c.161G>C (p.S54T) - CCDC22_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3819T>C r.(?) p.(=) - VUS g.49093590A>G g.49237123A>G CCDC22(NM_014008.4):c.88A>G (p.T30A) - CACNA1F_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3815G>A r.(?) p.(=) - likely benign g.49093586C>T g.49237119C>T CCDC22(NM_014008.4):c.84C>T (p.A28=) - CACNA1F_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.26-2A>G r.(?) p.(?) - likely pathogenic g.49088391T>C - - - CACNA1F_000185 - - - - Unknown - - - - - IMGAG
?/. 1 - c.40C>A r.(?) p.(Pro14Thr) - VUS g.49088375G>T g.49231913G>T CACNA1F(NM_005183.3):c.40C>A (p.P14T) - CACNA1F_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.41C>T r.(?) p.(Pro14Leu) - benign g.49088374G>A g.49231912G>A - - CACNA1F_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.123G>A r.(?) p.(Gly41=) - benign, likely benign g.49088292C>T g.49231830C>T CACNA1F(NM_005183.3):c.123G>A (p.G41=) - CACNA1F_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.142C>A r.(?) p.(Pro48Thr) - likely benign g.49088273G>T g.49231811G>T CACNA1F(NM_005183.3):c.142C>A (p.P48T) - CACNA1F_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 4 2 c.148C>T r.(?) p.(Arg50*) - likely pathogenic, pathogenic g.49088267G>A g.49231805G>A AJ006216: c.148C>T, error in annotation: c.148G-->A instead of C>T; p.Arg50*8 - CACNA1F_000340 no Sanger sequencing; hemizygous PubMed: Hove 2016, PubMed: Patel 2019, PubMed: Zeitz 2015, PubMed: Zeitz-2009 - rs886039560 Germline ? - - - - Christina Zeitz
+?/. 1 - c.151_155delAGAAA r.(?) p.(Arg51Profs*65) - likely pathogenic g.49088260_49088264delTTTCT - c.151_155delAGAAA (p.Arg51ProfsX65) - CACNA1F_000397 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
+/. 2 2 c.187_193dup r.(?) p.(Ala65Glyfs*55) ACMG pathogenic g.49088222_49088228dup, g.49088227_49088233dup g.49231765_49231771dup c.187_193dupGCCAGTG - CACNA1F_000176 - PubMed: Sharon 2019, PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Christina Zeitz
+/., +?/. 2 2 c.196C>T r.(?) p.(Gln66*) - likely pathogenic, pathogenic (recessive) g.49088219G>A g.49231757G>A c.196C>T - CACNA1F_000339 - PubMed: Zhou 2018, PubMed: Zhou-2011 - - Germline, Unknown - - - - - LOVD
+/. 2 2 c.208C>T r.(?) p.(Arg70Trp) - pathogenic g.49088207G>A g.49231745G>A c.208C>T - CACNA1F_000338 - PubMed: Bijveld 2013, PubMed: Hove 2016 - - Germline, Unknown - - - - - LOVD
?/. 2 - c.209G>A r.(?) p.(Arg70Gln) - VUS g.49088206C>T g.49231744C>T CACNA1F(NM_001256789.1):c.209G>A (p.(Arg70Gln)), CACNA1F(NM_005183.3):c.209G>A (p.R70Q) - CACNA1F_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., +?/., ?/. 6 2 c.220T>C r.(?) p.(Cys74Arg) - likely pathogenic, pathogenic, VUS g.49088195A>G g.49231733A>G AJ006216: c.220T>C, c.220T>C, c.220T>C (p.Cys74Arg), 1 more item - CACNA1F_000011 predicted to affect function, but insufficient evidence for definite conclusion, 1 more item PubMed: Bijveld 2013, PubMed: Neveling 2012, PubMed: Simonsz-2009, PubMed: Zeitz-2009 - - CLASSIFICATION record, Germline, Unknown yes - - - - Kornelia Neveling, VKGL-NL_VUmc
+/., +?/. 9 2 c.244C>T r.(?) p.(Arg82*) ACMG likely pathogenic, pathogenic g.49088171G>A g.49231709G>A AJ006216: c.244C>T, CACNA1F c.244C>T, p.(Arg82*), 1 more item - CACNA1F_000175 - PubMed: Holtan 2020, PubMed: Hove 2016, PubMed: Jespersgaar 2019, PubMed: Zeitz 2015, 2 more items - rs797044676 Germline ? 1/899 cases - - - Global Variome, with Curator vacancy, Christina Zeitz
+/. 1 2 c.244_245insG r.(?) p.(Arg83Thrfs*35) - pathogenic g.49088170_49088171insC - c.244insG - CACNA1F_000413 - PubMed: Bijveld 2013 - - Unknown - - - - - LOVD
+/., +?/. 7 2 c.245G>A r.(?) p.(Arg82Gln) - likely pathogenic, pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 not in 458 control chromosomes, VKGL data sharing initiative Nederland PubMed: Hove 2016, PubMed: Sun 2015, PubMed: Taylor 2017, PubMed: Zeitz 2015, 1 more item - - CLASSIFICATION record, Germline - 1/442 chromosomes - - - Christina Zeitz, VKGL-NL_Nijmegen
+/. 2 2 c.245G>C r.(?) p.(Arg82Pro) - pathogenic g.49088170C>G g.49231708C>G - - CACNA1F_000337 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 2 c.263T>A r.(?) p.(Ile88Asn) - pathogenic g.49088152A>T g.49231690A>T - - CACNA1F_000336 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+/. 1 2 c.272G>A r.(?) p.(Trp91*) - pathogenic g.49088143C>T g.49231681C>T - - CACNA1F_000335 - PubMed: Hove 2016 - - Germline - - - - - LOVD
?/. 1 - c.273G>C r.(?) p.(Trp91Cys) - VUS g.49088142C>G g.49231680C>G CACNA1F(NM_001256789.1):c.273G>C (p.(Trp91Cys)) - CACNA1F_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 2i c.276-15C>A r.spl p.(=) - pathogenic (recessive) g.49087784G>T g.49231322G>T - - CACNA1F_000098 expression cloning minigene construct confirms effect on splicing PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+?/. 1 - c.276del r.spl p.(Lys92Asnfs*9) - likely pathogenic g.49087770del g.49231308del IVS2-1 del1G - CACNA1F_000351 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/. 1 3 c.281dup r.(?) p.(Asp95Argfs*23) - pathogenic g.49087764dup - c.281dup - CACNA1F_000412 - PubMed: Bijveld 2013 - - Unknown - - - - - LOVD
+?/. 1 - c.283G>A r.(?) p.(Asp95Asn) - likely pathogenic g.49087762C>T g.49231300C>T - - CACNA1F_000360 not in 458 control chromosomes PubMed: Sun 2015 - - Germline - 1/442 chromosomes - - - LOVD
+/. 1 3 c.299T>C r.(?) p.(Leu100Pro) - pathogenic g.49087746A>G g.49231284A>G - - CACNA1F_000334 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+/. 2 3 c.299T>G r.(?) p.(Leu100Arg) - pathogenic, pathogenic (recessive) g.49087746A>C g.49231284A>C - - CACNA1F_000033 - PubMed: Zeitz 2015 - - Germline yes - - - - Christina Zeitz, Mervyn Thomas
+?/. 1 - c.342del r.(?) p.(Phe115Serfs*22) - likely pathogenic (recessive) g.49087706del g.49231244del 342delC - CACNA1F_000345 - PubMed: Essilfie 2018 - - Germline - - - - - LOVD
?/. 1 - c.345C>G r.(?) p.(Phe115Leu) ACMG VUS g.49087700G>C g.49231238G>C CACNA1F:NM_005183 c.C345G, p.F115L - chrX_017763 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
+/. 1 3 c.371dup r.(?) p.(Asn124Lysfs*175) - pathogenic g.49087675dup g.49231213dup - - CACNA1F_000333 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
-?/. 2 3i c.381+99C>T r.(=) p.(=) - likely benign g.49087565G>A g.49231103G>A - - CACNA1F_000017 - - - - Germline - - - - - Yu Sun
-?/. 2 3i c.382-36C>T r.(=) p.(=) - likely benign g.49087487G>A g.49231025= - - CACNA1F_000014 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.382-2A>G r.spl? p.? - likely pathogenic g.49087453T>C - AJ006216: c.382-2A>G - CACNA1F_000396 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
-/., -?/. 2 - c.393G>A r.(?) p.(Glu131=) - benign, likely benign g.49087440C>T g.49230978C>T CACNA1F(NM_005183.3):c.393G>A (p.E131=) - CACNA1F_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 4 c.396C>A r.(?) p.(Tyr132*) - pathogenic g.49087437G>T g.49230975G>T - - CACNA1F_000331 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+/. 1 4 c.396C>G r.(?) p.(Tyr132*) - pathogenic g.49087437G>C g.49230975G>C - - CACNA1F_000332 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 4 c.413del r.(?) p.(Phe138Serfs*65) - pathogenic g.49087420del - c.413del - CACNA1F_000411 - PubMed: Bijveld 2013 - - Unknown - - - - - LOVD
+/. 1 4 c.431T>C r.(?) p.(Leu144Pro) - pathogenic g.49087402A>G g.49230940A>G - - CACNA1F_000330 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/., +?/. 3 4 c.448G>A r.(?) p.(Gly150Arg) - likely pathogenic, pathogenic, pathogenic (recessive) g.49087385C>T g.49230923C>T c.448G>A - CACNA1F_000188 - PubMed: Zeitz 2019, Journal: Zeitz 2019, PubMed: Zhou 2018, PubMed: Zhou-2011 - - Germline, Unknown - - - - - Christina Zeitz
+?/. 1 - c.448G>C r.(?) p.(Gly150Arg) - likely pathogenic g.49087385C>G - AJ006216: c.448G>C - CACNA1F_000395 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
+/. 1 4 c.469G>C r.(?) p.(Ala157Pro) - pathogenic g.49087364C>G - c.469G>C - CACNA1F_000410 - PubMed: Bijveld 2013 - - Unknown - - - - - LOVD
+/. 1 4 c.495_496insTACCTA r.(?) p.(Leu165_Leu166insTyrLeu) - pathogenic g.49087342_49087343insATAGGT g.49230880_49230881insATAGGT - - CACNA1F_000329 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
-/. 1 - c.498C>G r.(?) p.(Leu166=) - benign g.49087335G>C g.49230873G>C CACNA1F(NM_005183.3):c.498C>G (p.L166=) - CACNA1F_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 3 4i c.522-16G>A r.(521_522ins522-14_522-1), r.(=) p.(=) - likely pathogenic, pathogenic (recessive) g.49087087C>T g.49230625C>T CACNA1F(NM_005183.3):c.522-16G>A - CACNA1F_000097 expression cloning minigene construct confirms effect on splicing, 1 more item PubMed: Zeitz 2019, Journal: Zeitz 2019 - - CLASSIFICATION record, Germline yes - - - - Christina Zeitz, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.546G>T r.(?) p.(Gln182His) - likely benign g.49087047C>A g.49230585C>A CACNA1F(NM_005183.3):c.546G>T (p.Q182H) - CACNA1F_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.579del r.(?) p.(Gly195GlufsTer8) - pathogenic g.49087015del g.49230553del CACNA1F(NM_005183.3):c.579delC (p.G195Efs*8) - CACNA1F_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.582G>A r.(?) p.(Gly194=) - benign g.49087011C>T g.49230549C>T CACNA1F(NM_005183.3):c.582G>A (p.G194=) - CACNA1F_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 5 c.584del r.(?) p.(Gly195Glufs*8) - pathogenic g.49087013del g.49230551del - - CACNA1F_000328 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
-?/. 1 - c.585A>G r.(?) p.(Gly195=) - likely benign g.49087008T>C - CACNA1F(NM_005183.3):c.585A>G (p.G195=) - CACNA1F_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.611C>T r.(?) p.(Ala204Val) - pathogenic g.49086982G>A g.49230520G>A - - CACNA1F_000327 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 5_10 c.621_1392delinsCTCATTG r.? p.? - pathogenic g.49083082_49086972delinsCAATGAG - c.621_1392delinsCTCATTG - CACNA1F_000407 - PubMed: Bijveld 2013 - - Unknown - - - - - LOVD
+/. 1 5 c.646C>T r.(645_664del) p.(Leu216=) - pathogenic (recessive) g.49086947G>A g.49230485G>A - - CACNA1F_000096 expression cloning minigene construct confirms effect on splicing PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 5 c.647T>G r.(?) p.(Leu216Arg) - pathogenic g.49086946A>C g.49230484A>C - - CACNA1F_000326 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+/. 1 5i c.664+1G>T r.spl p.? - pathogenic g.49086928C>A g.49230466C>A - - CACNA1F_000325 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/., +?/. 2 6 c.685T>C r.(?) p.(Ser229Pro) - likely pathogenic, pathogenic g.49086814A>G g.49230352A>G AJ006216: c.685T>C - CACNA1F_000324 - PubMed: Hove 2016, PubMed: Zeitz-2009 - - Germline - - - - - LOVD
+/. 1 6 c.731T>G r.(?) p.(Val244Gly) - pathogenic g.49086768A>C g.49230306A>C - - CACNA1F_000323 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
?/. 2 - c.761T>C r.(?) p.(Ile254Thr) - VUS g.49086738A>G g.49230276A>G CACNA1F(NM_005183.3):c.761T>C (p.I254T), CACNA1F(NM_005183.4):c.761T>C (p.I254T) - CACNA1F_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/., ?/. 2 6 c.764G>A r.(?) p.(Gly255Glu) - pathogenic, VUS g.49086735C>T g.49230273C>T CACNA1F(NM_005183.3):c.764G>A (p.G255E) - CACNA1F_000322 VKGL data sharing initiative Nederland PubMed: Zeitz 2015 - - CLASSIFICATION record, Germline - - - - - Christina Zeitz, VKGL-NL_Rotterdam
+/. 1 - c.769G>T r.(?) p.(Glu257Ter) - pathogenic g.49086730C>A g.49230268C>A CACNA1F(NM_005183.3):c.769G>T (p.E257*) - CACNA1F_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.781G>A r.(?) p.(Gly261Arg) - likely pathogenic g.49086718C>T - AJ006216: c.781G>A - CACNA1F_000394 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
+/. 2 6 c.784C>T r.(?) p.(Arg262*) - pathogenic g.49086715G>A g.49230253G>A - - CACNA1F_000321 - PubMed: Carss 2017, PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 6 c.796_797delinsGAACTT r.(?) p.(Thr266Glufs*34) - pathogenic g.49086702_49086703delinsAAGTTC g.49230240_49230241delinsAAGTTC - - CACNA1F_000320 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+?/. 1 - c.801C>A r.(?) p.(Cys267*) - likely pathogenic g.49086698G>T g.49230236G>T - - CACNA1F_000319 - PubMed: Taylor 2017 - - Germline - - - - - LOVD
+/. 1 6 c.804C>A r.(?) p.(Tyr268*) - pathogenic g.49086695G>T g.49230233G>T - - CACNA1F_000318 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 6 c.808del r.(?) p.(Leu270Trpfs*25) - pathogenic g.49086691del - c.808delC - CACNA1F_000409 - PubMed: Bijveld 2013 - - Unknown - - - - - LOVD
+?/., -?/. 3 6 c.811G>A r.(?) p.(Gly271Arg) - likely benign, likely pathogenic g.49086688C>T g.49230226C>T CACNA1F(NM_005183.3):c.811G>A (p.G271R) - CACNA1F_000012 predicted to affect function, but insufficient evidence for definite conclusion, 1 more item PubMed: Neveling 2012 - - CLASSIFICATION record, Germline no - - - - Kornelia Neveling, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 6 c.816dup r.(?) p.(Asp273Argfs*26) - pathogenic g.49086684dup g.49230222dup - - CACNA1F_000317 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
?/. 1 - c.818-3C>A r.spl? p.? - VUS g.49084912G>T g.49228450G>T CACNA1F(NM_005183.3):c.818-3C>A - CACNA1F_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.818-1G>A r.spl p.(?) ACMG likely pathogenic g.49084910C>T g.49228448C>T CACNA1F c.818-1G>A, p.(?), CLRN1 c.460_467dup, p.(Gln157Thrfs*12) - CACNA1F_000417 - PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
+/. 1 - c.829del r.(?) p.(Glu277ArgfsTer18) - pathogenic g.49084899del g.49228437del CACNA1F(NM_005183.3):c.829delG (p.E277Rfs*18) - CACNA1F_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 7 c.832G>T r.(?) p.(Glu278*) - likely pathogenic, unclassified g.49084895C>A - AJ006216: c.832G>T, c.637G>T E213X - CACNA1F_000184 - PubMed: Zeitz-2009, PubMed: Zito 2003 - - Germline yes - - - - Julia Lopez
?/. 1 7 c.847T>C r.(?) p.(Cys283Arg) ACMG VUS g.49084880A>G g.49228418A>G - - CACNA1F_000398 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - LOVD
?/. 1 - c.854_874del r.(?) p.(Ser285_Ala291del) - VUS g.49084859_49084879del g.49228397_49228417del - - CACNA1F_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.867G>A r.(=) p.(=) - likely pathogenic g.49084860C>T g.49228398C>T NM_001256789.1:c.867G>A - CACNA1F_000350 r.(=) effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - LOVD
+/., +?/. 4 7 c.868C>T r.(?) p.(Arg290Cys) - likely pathogenic, pathogenic g.49084859G>A g.49228397G>A - - CACNA1F_000189 - PubMed: Taylor 2017, PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 7 c.896G>A r.(?) p.(Cys299Tyr) - pathogenic g.49084831C>T g.49228369C>T - - CACNA1F_000316 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+?/. 1 - c.903_904insG r.(?) p.(Arg302Alafs*13) - likely pathogenic g.49084823_49084824insC - c.903_904insG (p.Arg302AlafsX13) - CACNA1F_000393 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
?/. 2 - c.904C>T r.(?) p.(Arg302Cys) - VUS g.49084823G>A g.49228361G>A CACNA1F(NM_001256789.1):c.904C>T (p.(Arg302Cys)) - CACNA1F_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 1 7 c.909G>T r.(?) p.(Trp303Cys) - pathogenic g.49084818C>A g.49228356C>A - - CACNA1F_000315 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - rs782020175 Germline - - - - - Christina Zeitz
?/. 1 7 c.920A>G r.(?) p.(Asn307Ser) - VUS g.49084807T>C g.49228345T>C A920G - CACNA1F_000365 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD
+/., +?/. 2 7 c.926G>A r.(?) p.(Gly309Asp) - likely pathogenic, pathogenic g.49084801C>T g.49228339C>T - - CACNA1F_000314 not in 458 control chromosomes PubMed: Sun 2015, PubMed: Zeitz 2015 - - Germline - 1/442 chromosomes - - - Christina Zeitz
+/. 1 7 c.935del r.(?) p.(Asn312Thrfs*10) - pathogenic g.49084793del g.49228331del - - CACNA1F_000313 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+?/. 1 - c.935delA r.(?) p.(Asn312Thrfs*10) - likely pathogenic g.49084792delT - c.935delA (p.Asp312ThrfsX10) - CACNA1F_000392 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
+/. 1 7 c.943_945del r.(?) p.(Asn315del) - pathogenic g.49084784_49084786del g.49228322_49228324del - - CACNA1F_000312 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+/. 1 - c.945_947delCTT r.(?) p.(Phe318del) - pathogenic g.49084780_49084782delAAG - c.945_947delCTT (p.Phe316del) - CACNA1F_000174 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
+/., +?/. 6 7 c.952_954del r.(?) p.(Phe318del) ACMG likely pathogenic, pathogenic g.49084773_49084775del, g.49084780_49084782del g.49228318_49228320del 952_954delTTC, c.952_954del, X:49084772CGAA>C ENST00000376265.2:c.952_954delTTC (Phe318del) - CACNA1F_000174 - PubMed: Bijveld 2013, PubMed: Carss 2017, PubMed: Hove 2016, PubMed: Sharon 2019, 1 more item - - Germline, Unknown - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Christina Zeitz
?/. 1 - c.953T>C r.(?) p.(Phe318Ser) - VUS g.49084774A>G - CACNA1F(NM_005183.3):c.953T>C (p.F318S) - CACNA1F_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 7 c.973C>T r.(?) p.(Gln325*) - pathogenic g.49084754G>A g.49228292G>A c.973C>T - CACNA1F_000311 - PubMed: Zeitz 2015, PubMed: _Audo-2012 - - Germline, Unknown - - - - - Christina Zeitz
+/. 1 7 c.985_986insC r.(?) p.(Met329Thrfs*18) - pathogenic g.49084741_49084742insG g.49228279_49228280insG - - CACNA1F_000310 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+/. 1 7 c.994T>C r.(?) p.(Trp332Arg) - pathogenic g.49084733A>G g.49228271A>G - - CACNA1F_000309 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
?/. 1 - c.1000G>A r.(?) p.(Asp334Asn) - VUS g.49084727C>T g.49228265C>T CACNA1F(NM_005183.3):c.1000G>A (p.D334N) - CACNA1F_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 7 c.1004_1009del r.(?) p.(Val335_Tyr337delinsAsp) - pathogenic g.49084718_49084723del g.49228256_49228261del 1004_1009delTGCTCT - CACNA1F_000308 - PubMed: Zeitz 2015 - - Germline - - - - - Christina Zeitz
+/. 1 7 c.1014G>A r.(?) p.(Trp338*) - pathogenic g.49084713C>T g.49228251C>T - - CACNA1F_000307 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
+/. 1 7i c.1014+1G>A r.spl p.? - pathogenic g.49084712C>T g.49228250C>T - - CACNA1F_000306 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - - - Christina Zeitz
-?/. 1 - c.1014+6G>A r.(=) p.(=) - likely benign g.49084707C>T g.49228245C>T CACNA1F(NM_005183.3):c.1014+6G>A - CACNA1F_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1015-2A>G r.spl p.? ACMG pathogenic g.49084603T>C - - - CACNA1F_000173 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
+/. 1 7i c.1015-1G>T r.spl p.? - pathogenic g.49084602C>A g.49228140C>A - - CACNA1F_000305 - PubMed: Hove 2016 - - Germline - - - - - LOVD
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