All 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.

631 entries on 7 pages. Showing entries 1 - 100.
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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     
+/. 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 - - - 0 - Christina Zeitz
+/. - c.? r.(?) p.? - pathogenic g.? - CSNB2A (CACNA1F): p.Pro197AlafsX - USP9X_000005 - PubMed: Jacobson 2008 - - Unknown - - - 0 - LOVD
-?/. - 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
?/. - 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
-?/. - 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
+?/. - c.26-2A>G r.(?) p.(?) - likely pathogenic g.49088391T>C - - - CACNA1F_000185 - - - - Unknown - - - 0 - IMGAG
?/. - 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
-/. - c.41C>T r.(?) p.(Pro14Leu) - benign g.49088374G>A g.49231912G>A - - CACNA1F_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.123G>A r.(?) p.(Gly41=) - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.123G>A r.(?) p.(Gly41=) - 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_AMC
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. 2 c.148C>T r.(?) p.(Arg50*) - pathogenic g.49088267G>A g.49231805G>A - - CACNA1F_000340 - PubMed: Zeitz 2015 - rs886039560 Germline - - - 0 - Christina Zeitz
+/. 2 c.148C>T r.(?) p.(Arg50*) - pathogenic g.49088267G>A g.49231805G>A - - CACNA1F_000340 - PubMed: Hove 2016 - - Germline - - - 0 - LOVD
+?/. - c.148C>T r.(?) p.(Arg50*) - likely pathogenic g.49088267G>A - AJ006216: c.148C>T - CACNA1F_000340 - PubMed: Zeitz-2009 - - Germline - - - 0 - LOVD
+?/. - c.148C>T r.(?) p.(Arg50*) - likely pathogenic g.49088267G>A g.49231805G>A error in annotation: c.148G-->A instead of C>T; p.Arg50*8 - CACNA1F_000340 no Sanger sequencing; hemizygous PubMed: Patel 2019 - - Germline ? - - 0 - LOVD
+?/. - c.151_155delAGAAA r.(?) p.(Arg51Profs*65) - likely pathogenic g.49088260_49088264delTTTCT - c.151_155delAGAAA (p.Arg51ProfsX65) - CACNA1F_000397 - PubMed: Zeitz-2009 - - Germline - - - 0 - LOVD
+/. - c.187_193dup r.(?) p.(Ala65Glyfs*55) ACMG pathogenic g.49088222_49088228dup - c.187_193dupGCCAGTG - CACNA1F_000176 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. 2 c.187_193dup r.(?) p.(Ala65Glyfs*55) - pathogenic g.49088227_49088233dup g.49231765_49231771dup - - CACNA1F_000176 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
+/. - c.196C>T r.(?) p.(Gln66*) - pathogenic (recessive) g.49088219G>A g.49231757G>A - - CACNA1F_000339 - PubMed: Zhou 2018 - - Germline - - - 0 - LOVD
+?/. 2 c.196C>T r.(?) p.(Gln66*) - likely pathogenic g.49088219G>A - c.196C>T - CACNA1F_000339 - PubMed: Zhou-2011 - - Unknown - - - 0 - LOVD
+/. 2 c.208C>T r.(?) p.(Arg70Trp) - pathogenic g.49088207G>A g.49231745G>A - - CACNA1F_000338 - PubMed: Hove 2016 - - Germline - - - 0 - LOVD
+/. 2 c.208C>T r.(?) p.(Arg70Trp) - pathogenic g.49088207G>A - c.208C>T - CACNA1F_000338 - PubMed: Bijveld 2013 - - Unknown - - - 0 - LOVD
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.209G>A r.(?) p.(Arg70Gln) - VUS g.49088206C>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
+?/. 2 c.220T>C r.(?) p.(Cys74Arg) - likely pathogenic g.49088195A>G g.49231733A>G - - CACNA1F_000011 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling
?/. - c.220T>C r.(?) p.(Cys74Arg) - VUS g.49088195A>G - CACNA1F(NM_005183.3):c.220T>C (p.C74R) - CACNA1F_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.220T>C r.(?) p.(Cys74Arg) - likely pathogenic g.49088195A>G - AJ006216: c.220T>C - CACNA1F_000011 - PubMed: Zeitz-2009 - - Germline - - - 0 - LOVD
+?/. 2 c.220T>C r.(?) p.(Cys74Arg) - likely pathogenic g.49088195A>G - c.220T>C (p.Cys74Arg) - CACNA1F_000011 - PubMed: Simonsz-2009 - - Germline - - - 0 - LOVD
+?/. 2 c.220T>C r.(?) p.(Cys74Arg) - likely pathogenic g.49088195A>G - c.220T>C (p.Cys74Arg) - CACNA1F_000011 - PubMed: Simonsz-2009 - - Germline - - - 0 - LOVD
+/. 2 c.220T>C r.(?) p.(Cys74Arg) - pathogenic g.49088195A>G - c.220T>C - CACNA1F_000011 - PubMed: Bijveld 2013 - - Unknown - - - 0 - LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) - likely pathogenic g.49088171G>A - - - CACNA1F_000175 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - Global Variome, with Curator vacancy
+/. 2 c.244C>T r.(?) p.(Arg82*) - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Zeitz 2015 - rs797044676 Germline - - - 0 - Christina Zeitz
+/. 2 c.244C>T r.(?) p.(Arg82*) - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Zeitz 2015 - rs797044676 Germline - - - 0 - Christina Zeitz
+/. 2 c.244C>T r.(?) p.(Arg82*) - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - rs797044676 Germline - - - 0 - Christina Zeitz
+/. 2 c.244C>T r.(?) p.(Arg82*) - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Hove 2016 - - Germline - - - 0 - LOVD
+/. 2 c.244C>T r.(?) p.(Arg82*) - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Hove 2016 - - Germline - - - 0 - LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) - likely pathogenic g.49088171G>A - AJ006216: c.244C>T - CACNA1F_000175 - PubMed: Zeitz-2009 - - Germline - - - 0 - LOVD
+/. - c.244C>T r.(?) p.(Arg82*) ACMG pathogenic g.49088171G>A g.49231709G>A CACNA1F c.244C>T, p.(Arg82*),, pCDH15 c.(3983+1_3984-1), _(4367+1_4368-1), del - CACNA1F_000175 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
+/. - c.244C>T r.(?) p.(Arg82*) ACMG pathogenic g.49088171G>A g.49231709G>A CACNA1F c.244C>T, p.(Arg82*) - CACNA1F_000175 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
+/. 2 c.244_245insG r.(?) p.(Arg83Thrfs*35) - pathogenic g.49088170_49088171insC - c.244insG - CACNA1F_000413 - PubMed: Bijveld 2013 - - Unknown - - - 0 - LOVD
+?/. - c.245G>A r.(?) p.(Arg82Gln) - likely pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.245G>A r.(?) p.(Arg82Gln) - pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
+/. 2 c.245G>A r.(?) p.(Arg82Gln) - pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Zeitz 2019, Journal: Zeitz 2019, PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
+/. 2 c.245G>A r.(?) p.(Arg82Gln) - pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Hove 2016 - - Germline - - - 0 - LOVD
+/. 2 c.245G>A r.(?) p.(Arg82Gln) - pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Hove 2016 - - Germline - - - 0 - LOVD
+?/. - c.245G>A r.(?) p.(Arg82Gln) - likely pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Taylor 2017 - - Germline - - - 0 - LOVD
+?/. - c.245G>A r.(?) p.(Arg82Gln) - likely pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 not in 458 control chromosomes PubMed: Sun 2015 - - Germline - 1/442 chromosomes - 0 - LOVD
+/. 2 c.245G>C r.(?) p.(Arg82Pro) - pathogenic g.49088170C>G g.49231708C>G - - CACNA1F_000337 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
+/. 2 c.245G>C r.(?) p.(Arg82Pro) - pathogenic g.49088170C>G g.49231708C>G - - CACNA1F_000337 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
+/. 2 c.263T>A r.(?) p.(Ile88Asn) - pathogenic g.49088152A>T g.49231690A>T - - CACNA1F_000336 - PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
+/. 2 c.272G>A r.(?) p.(Trp91*) - pathogenic g.49088143C>T g.49231681C>T - - CACNA1F_000335 - PubMed: Hove 2016 - - Germline - - - 0 - LOVD
?/. - 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 - - - 0 - VKGL-NL_Leiden
+/. 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 - - - 0 - Christina Zeitz
+?/. - c.276del r.spl p.(Lys92Asnfs*9) - likely pathogenic g.49087770del g.49231308del IVS2-1 del1G - CACNA1F_000351 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+/. 3 c.281dup r.(?) p.(Asp95Argfs*23) - pathogenic g.49087764dup - c.281dup - CACNA1F_000412 - PubMed: Bijveld 2013 - - Unknown - - - 0 - LOVD
+?/. - 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 - 0 - LOVD
+/. 3 c.299T>C r.(?) p.(Leu100Pro) - pathogenic g.49087746A>G g.49231284A>G - - CACNA1F_000334 - PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
+/. 3 c.299T>G r.(?) p.(Leu100Arg) - pathogenic (recessive) g.49087746A>C g.49231284A>C - - CACNA1F_000033 - - - - Germline yes - - 0 - Mervyn Thomas
+/. 3 c.299T>G r.(?) p.(Leu100Arg) - pathogenic g.49087746A>C g.49231284A>C - - CACNA1F_000033 - PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
+?/. - c.342del r.(?) p.(Phe115Serfs*22) - likely pathogenic (recessive) g.49087706del g.49231244del 342delC - CACNA1F_000345 - PubMed: Essilfie 2018 - - Germline - - - 0 - LOVD
?/. - 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 ? - - 0 - LOVD
+/. 3 c.371dup r.(?) p.(Asn124Lysfs*175) - pathogenic g.49087675dup g.49231213dup - - CACNA1F_000333 - PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
-?/. 3i c.381+99C>T r.(=) p.(=) - likely benign g.49087565G>A g.49231103G>A - - CACNA1F_000017 - - - - Germline - - - 0 - Yu Sun
-?/. 3i c.381+99C>T r.(=) p.(=) - likely benign g.49087565G>A g.49231103G>A - - CACNA1F_000017 - - - - Germline - - - 0 - Yu Sun
-?/. 3i c.382-36C>T r.(=) p.(=) - likely benign g.49087487G>A g.49231025= - - CACNA1F_000014 - - - - Germline - - - 0 - Yu Sun
-?/. 3i c.382-36C>T r.(=) p.(=) - likely benign g.49087487G>A g.49231025= - - CACNA1F_000014 - - - - Germline - - - 0 - Yu Sun
+?/. - c.382-2A>G r.spl? p.? - likely pathogenic g.49087453T>C - AJ006216: c.382-2A>G - CACNA1F_000396 - PubMed: Zeitz-2009 - - Germline - - - 0 - LOVD
-/. - c.393G>A r.(?) p.(Glu131=) - 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_AMC
-?/. - c.393G>A r.(?) p.(Glu131=) - 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
+/. 4 c.396C>A r.(?) p.(Tyr132*) - pathogenic g.49087437G>T g.49230975G>T - - CACNA1F_000331 - PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
+/. 4 c.396C>G r.(?) p.(Tyr132*) - pathogenic g.49087437G>C g.49230975G>C - - CACNA1F_000332 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
+/. 4 c.413del r.(?) p.(Phe138Serfs*65) - pathogenic g.49087420del - c.413del - CACNA1F_000411 - PubMed: Bijveld 2013 - - Unknown - - - 0 - LOVD
+/. 4 c.431T>C r.(?) p.(Leu144Pro) - pathogenic g.49087402A>G g.49230940A>G - - CACNA1F_000330 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
+/. 4 c.448G>A r.(?) p.(Gly150Arg) - pathogenic g.49087385C>T g.49230923C>T - - CACNA1F_000188 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
+/. 4 c.448G>A r.(?) p.(Gly150Arg) - pathogenic (recessive) g.49087385C>T g.49230923C>T - - CACNA1F_000188 - PubMed: Zhou 2018 - - Germline - - - 0 - Christina Zeitz
+?/. 4 c.448G>A r.(?) p.(Gly150Arg) - likely pathogenic g.49087385C>T - c.448G>A - CACNA1F_000188 - PubMed: Zhou-2011 - - Unknown - - - 0 - LOVD
+?/. - c.448G>C r.(?) p.(Gly150Arg) - likely pathogenic g.49087385C>G - AJ006216: c.448G>C - CACNA1F_000395 - PubMed: Zeitz-2009 - - Germline - - - 0 - LOVD
+/. 4 c.469G>C r.(?) p.(Ala157Pro) - pathogenic g.49087364C>G - c.469G>C - CACNA1F_000410 - PubMed: Bijveld 2013 - - Unknown - - - 0 - LOVD
+/. 4 c.495_496insTACCTA r.(?) p.(Leu165_Leu166insTyrLeu) - pathogenic g.49087342_49087343insATAGGT g.49230880_49230881insATAGGT - - CACNA1F_000329 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
-/. - 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
+/. 4i c.522-16G>A r.(521_522ins522-14_522-1) p.(=) - pathogenic (recessive) g.49087087C>T g.49230625C>T - - CACNA1F_000097 expression cloning minigene construct confirms effect on splicing PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline yes - - 0 - Christina Zeitz
+?/. - c.522-16G>A r.(=) p.(=) - likely pathogenic g.49087087C>T g.49230625C>T CACNA1F(NM_005183.3):c.522-16G>A - CACNA1F_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.522-16G>A r.(=) p.(=) - likely pathogenic g.49087087C>T - CACNA1F(NM_005183.3):c.522-16G>A - CACNA1F_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - 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
+/. - 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
-/. - 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
+/. 5 c.584del r.(?) p.(Gly195Glufs*8) - pathogenic g.49087013del g.49230551del - - CACNA1F_000328 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
-?/. - 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
+/. 5 c.611C>T r.(?) p.(Ala204Val) - pathogenic g.49086982G>A g.49230520G>A - - CACNA1F_000327 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
+/. 5_10 c.621_1392delinsCTCATTG r.? p.? - pathogenic g.49083082_49086972delinsCAATGAG - c.621_1392delinsCTCATTG - CACNA1F_000407 - PubMed: Bijveld 2013 - - Unknown - - - 0 - LOVD
+/. 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 - - - 0 - Christina Zeitz
+/. 5 c.647T>G r.(?) p.(Leu216Arg) - pathogenic g.49086946A>C g.49230484A>C - - CACNA1F_000326 - PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
+/. 5i c.664+1G>T r.spl p.? - pathogenic g.49086928C>A g.49230466C>A - - CACNA1F_000325 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
+/. 6 c.685T>C r.(?) p.(Ser229Pro) - pathogenic g.49086814A>G g.49230352A>G - - CACNA1F_000324 - PubMed: Hove 2016 - - Germline - - - 0 - LOVD
+?/. - c.685T>C r.(?) p.(Ser229Pro) - likely pathogenic g.49086814A>G - AJ006216: c.685T>C - CACNA1F_000324 - PubMed: Zeitz-2009 - - Germline - - - 0 - LOVD
+/. 6 c.731T>G r.(?) p.(Val244Gly) - pathogenic g.49086768A>C g.49230306A>C - - CACNA1F_000323 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - Christina Zeitz
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.761T>C r.(?) p.(Ile254Thr) - VUS g.49086738A>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_Groningen
+/. 6 c.764G>A r.(?) p.(Gly255Glu) - pathogenic g.49086735C>T g.49230273C>T - - CACNA1F_000322 - PubMed: Zeitz 2015 - - Germline - - - 0 - Christina Zeitz
?/. - c.764G>A r.(?) p.(Gly255Glu) - VUS g.49086735C>T - CACNA1F(NM_005183.3):c.764G>A (p.G255E) - CACNA1F_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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