Full data view for gene CACNA1F

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 17i_48_ c.()_*{0} r.? p.? Parent #1 - pathogenic g.(?_49061523)_(49077540_49078980)del g.(?_49205063)_(49221081_49222521)del del ex18-48 - CACNA1F_000190 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - CSNB2A (CACNA1F): p.Pro197AlafsX - USP9X_000005 - PubMed: Jacobson 2008 - - Unknown - - - 0 - DNA ? - Methods described in Aleman 2007, Jacobson 2006, Jacobson 1987 and Roman 2016 retinal disease - PubMed: Jacobson 2008 - M - - - - 0 - - 1 LOVD
-?/. - c.-3892C>G r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3819T>C r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3815G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.26-2A>G r.(?) p.(?) Both (homozygous) - likely pathogenic g.49088391T>C - - - CACNA1F_000185 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
?/. - c.40C>A r.(?) p.(Pro14Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.41C>T r.(?) p.(Pro14Leu) Unknown - benign g.49088374G>A g.49231912G>A - - CACNA1F_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.123G>A r.(?) p.(Gly41=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.123G>A r.(?) p.(Gly41=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142C>A r.(?) p.(Pro48Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 2 c.148C>T r.(?) p.(Arg50*) Parent #1 - pathogenic g.49088267G>A g.49231805G>A - - CACNA1F_000340 - PubMed: Zeitz 2015 - rs886039560 Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+/. 2 c.148C>T r.(?) p.(Arg50*) Parent #1 - pathogenic g.49088267G>A g.49231805G>A - - CACNA1F_000340 - PubMed: Hove 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam175 PubMed: Hove 2016 - - - Denmark - - 0 - - 1 LOVD
+?/. - c.148C>T r.(?) p.(Arg50*) Unknown - likely pathogenic g.49088267G>A - AJ006216: c.148C>T - CACNA1F_000340 - PubMed: Zeitz-2009 - - Germline - - - 0 - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - 0 - - 1 LOVD
+?/. - c.148C>T r.(?) p.(Arg50*) Unknown - 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 - DNA SEQ-NG blood - CSNB-2A 269 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+?/. - c.151_155delAGAAA r.(?) p.(Arg51Profs*65) Unknown - likely pathogenic g.49088260_49088264delTTTCT - c.151_155delAGAAA (p.Arg51ProfsX65) - CACNA1F_000397 - PubMed: Zeitz-2009 - - Germline - - - 0 - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - 0 - - 1 LOVD
+/. - c.187_193dup r.(?) p.(Ala65Glyfs*55) Unknown ACMG pathogenic g.49088222_49088228dup - c.187_193dupGCCAGTG - CACNA1F_000176 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2 c.187_193dup r.(?) p.(Ala65Glyfs*55) Parent #1 - pathogenic g.49088227_49088233dup g.49231765_49231771dup - - CACNA1F_000176 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - Israel - - 0 - - 1 Christina Zeitz
+/. - c.196C>T r.(?) p.(Gln66*) Parent #1 - pathogenic (recessive) g.49088219G>A g.49231757G>A - - CACNA1F_000339 - PubMed: Zhou 2018 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease 690996 PubMed: Zhou 2018 - M - China - - 0 - - 1 LOVD
+?/. 2 c.196C>T r.(?) p.(Gln66*) Maternal (inferred) - likely pathogenic g.49088219G>A - c.196C>T - CACNA1F_000339 - PubMed: Zhou-2011 - - Unknown - - - 0 - DNA SEQ blood WES retinal disease - PubMed: Zhou-2011 - M - China - - 0 - - 1 LOVD
+/. 2 c.208C>T r.(?) p.(Arg70Trp) Parent #1 - pathogenic g.49088207G>A g.49231745G>A - - CACNA1F_000338 - PubMed: Hove 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam309 PubMed: Hove 2016 - - - Denmark - - 0 - - 1 LOVD
+/. 2 c.208C>T r.(?) p.(Arg70Trp) Unknown - pathogenic g.49088207G>A - c.208C>T - CACNA1F_000338 - PubMed: Bijveld 2013 - - Unknown - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - 0 - - 1 Julia Lopez
?/. - c.209G>A r.(?) p.(Arg70Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.209G>A r.(?) p.(Arg70Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.220T>C r.(?) p.(Cys74Arg) Parent #1 - 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 - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - 0 - - 1 Kornelia Neveling
?/. - c.220T>C r.(?) p.(Cys74Arg) Unknown - VUS g.49088195A>G - CACNA1F(NM_005183.3):c.220T>C (p.C74R) - CACNA1F_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.220T>C r.(?) p.(Cys74Arg) Unknown - likely pathogenic g.49088195A>G - AJ006216: c.220T>C - CACNA1F_000011 - PubMed: Zeitz-2009 - - Germline - - - 0 - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - 0 - - 1 LOVD
+?/. 2 c.220T>C r.(?) p.(Cys74Arg) Maternal (inferred) - likely pathogenic g.49088195A>G - c.220T>C (p.Cys74Arg) - CACNA1F_000011 - PubMed: Simonsz-2009 - - Germline - - - 0 - DNA ? - - retinal disease - PubMed: Simonsz-2009 cousin of 4b M - Netherlands - - 0 - - 1 LOVD
+?/. 2 c.220T>C r.(?) p.(Cys74Arg) Maternal (inferred) - likely pathogenic g.49088195A>G - c.220T>C (p.Cys74Arg) - CACNA1F_000011 - PubMed: Simonsz-2009 - - Germline - - - 0 - DNA ? - - retinal disease - PubMed: Simonsz-2009 (Wutz et al., 2002, case S41) M - Netherlands - - 0 - - 1 LOVD
+/. 2 c.220T>C r.(?) p.(Cys74Arg) Unknown - pathogenic g.49088195A>G - c.220T>C - CACNA1F_000011 - PubMed: Bijveld 2013 - - Unknown - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - 0 - - 3 Julia Lopez
+?/. - c.244C>T r.(?) p.(Arg82*) Parent #1 - likely pathogenic g.49088171G>A - - - CACNA1F_000175 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2 c.244C>T r.(?) p.(Arg82*) Parent #1 - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Zeitz 2015 - rs797044676 Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+/. 2 c.244C>T r.(?) p.(Arg82*) Parent #1 - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Zeitz 2015 - rs797044676 Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+/. 2 c.244C>T r.(?) p.(Arg82*) Parent #1 - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - rs797044676 Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. 2 c.244C>T r.(?) p.(Arg82*) Parent #1 - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Hove 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam320 PubMed: Hove 2016 - - - Denmark - - 0 - - 1 LOVD
+/. 2 c.244C>T r.(?) p.(Arg82*) Parent #1 - pathogenic g.49088171G>A g.49231709G>A - - CACNA1F_000175 - PubMed: Hove 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam4004 PubMed: Hove 2016 - - - Denmark - - 0 - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Unknown - likely pathogenic g.49088171G>A - AJ006216: c.244C>T - CACNA1F_000175 - PubMed: Zeitz-2009 - - Germline - - - 0 - DNA SEQ, arraySEQ - - retinal disease - PubMed: Zeitz-2009 mother het - - Germany - - 0 - - 1 LOVD
+/. - c.244C>T r.(?) p.(Arg82*) Unknown 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 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 72 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 1 LOVD
+/. - c.244C>T r.(?) p.(Arg82*) Unknown ACMG pathogenic g.49088171G>A g.49231709G>A CACNA1F c.244C>T, p.(Arg82*) - CACNA1F_000175 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 73 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 1 LOVD
+/. 2 c.244_245insG r.(?) p.(Arg83Thrfs*35) Unknown - pathogenic g.49088170_49088171insC - c.244insG - CACNA1F_000413 - PubMed: Bijveld 2013 - - Unknown - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - 0 - - 2 Julia Lopez
+?/. - c.245G>A r.(?) p.(Arg82Gln) Unknown - likely pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.245G>A r.(?) p.(Arg82Gln) Parent #1 - pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+/. 2 c.245G>A r.(?) p.(Arg82Gln) Parent #1 - pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Zeitz 2019, Journal: Zeitz 2019, PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019, PubMed: Zeitz 2015 - - - Belgium - - 0 - - 1 Christina Zeitz
+/. 2 c.245G>A r.(?) p.(Arg82Gln) Parent #1 - pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Hove 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam4008 PubMed: Hove 2016 - - - Denmark - - 0 - - 1 LOVD
+/. 2 c.245G>A r.(?) p.(Arg82Gln) Parent #1 - pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Hove 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam4002 PubMed: Hove 2016 - - - Denmark - - 0 - - 1 LOVD
+?/. - c.245G>A r.(?) p.(Arg82Gln) Maternal (inferred) - likely pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 - PubMed: Taylor 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 15023685 PubMed: Taylor 2017 family history retinal disease M - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+?/. - c.245G>A r.(?) p.(Arg82Gln) Maternal (inferred) - likely pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 not in 458 control chromosomes PubMed: Sun 2015 - - Germline - 1/442 chromosomes - 0 - DNA SEQ-NG - WES retinal disease HM623 PubMed: Sun 2015 proband - - China - - 0 - - 1 LOVD
+/. 2 c.245G>C r.(?) p.(Arg82Pro) Parent #1 - pathogenic g.49088170C>G g.49231708C>G - - CACNA1F_000337 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. 2 c.245G>C r.(?) p.(Arg82Pro) Parent #1 - pathogenic g.49088170C>G g.49231708C>G - - CACNA1F_000337 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. 2 c.263T>A r.(?) p.(Ile88Asn) Parent #1 - pathogenic g.49088152A>T g.49231690A>T - - CACNA1F_000336 - PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+/. 2 c.272G>A r.(?) p.(Trp91*) Parent #1 - pathogenic g.49088143C>T g.49231681C>T - - CACNA1F_000335 - PubMed: Hove 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam317 PubMed: Hove 2016 - - - Denmark - - 0 - - 1 LOVD
?/. - c.273G>C r.(?) p.(Trp91Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 2i c.276-15C>A r.spl p.(=) Unknown - 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 - DNA SEQ - - CSNB FamD PubMed: Zeitz 2019, Journal: Zeitz 2019 2-generation family, 1 affected (M) M - - - - 0 - - 1 Christina Zeitz
+?/. - c.276del r.spl p.(Lys92Asnfs*9) Unknown - likely pathogenic g.49087770del g.49231308del IVS2-1 del1G - CACNA1F_000351 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 474 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+/. 3 c.281dup r.(?) p.(Asp95Argfs*23) Unknown - pathogenic g.49087764dup - c.281dup - CACNA1F_000412 - PubMed: Bijveld 2013 - - Unknown - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - 0 - - 1 Julia Lopez
+?/. - c.283G>A r.(?) p.(Asp95Asn) Maternal (inferred) - likely pathogenic g.49087762C>T g.49231300C>T - - CACNA1F_000360 not in 458 control chromosomes PubMed: Sun 2015 - - Germline - 1/442 chromosomes - 0 - DNA SEQ-NG - WES retinal disease HM698 PubMed: Sun 2015 proband - - China - - 0 - - 1 LOVD
+/. 3 c.299T>C r.(?) p.(Leu100Pro) Parent #1 - pathogenic g.49087746A>G g.49231284A>G - - CACNA1F_000334 - PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+/. 3 c.299T>G r.(?) p.(Leu100Arg) Maternal (confirmed) - pathogenic (recessive) g.49087746A>C g.49231284A>C - - CACNA1F_000033 - - - - Germline yes - - 0 - DNA SEQ-NG - - CSNB NYS-002 PubMed: Thomas 2017, Journal: Thomas 2017 2-generation family, 5 affected (5M), unaffected heterozygous carrier females M - United Kingdom (Great Britain) - - 0 - - 5 Mervyn Thomas
+/. 3 c.299T>G r.(?) p.(Leu100Arg) Parent #1 - pathogenic g.49087746A>C g.49231284A>C - - CACNA1F_000033 - PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+?/. - c.342del r.(?) p.(Phe115Serfs*22) Maternal (confirmed) - likely pathogenic (recessive) g.49087706del g.49231244del 342delC - CACNA1F_000345 - PubMed: Essilfie 2018 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Pat28 PubMed: Essilfie 2018 - M - Korea - - 0 - - 1 LOVD
?/. - c.345C>G r.(?) p.(Phe115Leu) Unknown 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 - DNA SEQ-NG-I blood - retinal disease RPN-410 PubMed: Rodriguez-Munoz 2020 family fRPN-187, proband F - Spain - - 0 - - 1 LOVD
+/. 3 c.371dup r.(?) p.(Asn124Lysfs*175) Parent #1 - pathogenic g.49087675dup g.49231213dup - - CACNA1F_000333 - PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
-?/. 3i c.381+99C>T r.(=) p.(=) Maternal (inferred) - likely benign g.49087565G>A g.49231103G>A - - CACNA1F_000017 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 3i c.381+99C>T r.(=) p.(=) Maternal (inferred) - likely benign g.49087565G>A g.49231103G>A - - CACNA1F_000017 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 3i c.382-36C>T r.(=) p.(=) Maternal (inferred) - likely benign g.49087487G>A g.49231025= - - CACNA1F_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 3i c.382-36C>T r.(=) p.(=) Maternal (inferred) - likely benign g.49087487G>A g.49231025= - - CACNA1F_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. - c.382-2A>G r.spl? p.? Unknown - likely pathogenic g.49087453T>C - AJ006216: c.382-2A>G - CACNA1F_000396 - PubMed: Zeitz-2009 - - Germline - - - 0 - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - 0 - - 1 LOVD
-/. - c.393G>A r.(?) p.(Glu131=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393G>A r.(?) p.(Glu131=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.396C>A r.(?) p.(Tyr132*) Parent #1 - pathogenic g.49087437G>T g.49230975G>T - - CACNA1F_000331 - PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+/. 4 c.396C>G r.(?) p.(Tyr132*) Parent #1 - pathogenic g.49087437G>C g.49230975G>C - - CACNA1F_000332 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. 4 c.413del r.(?) p.(Phe138Serfs*65) Unknown - pathogenic g.49087420del - c.413del - CACNA1F_000411 - PubMed: Bijveld 2013 - - Unknown - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - 0 - - 1 Julia Lopez
+/. 4 c.431T>C r.(?) p.(Leu144Pro) Parent #1 - pathogenic g.49087402A>G g.49230940A>G - - CACNA1F_000330 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. 4 c.448G>A r.(?) p.(Gly150Arg) Parent #1 - pathogenic g.49087385C>T g.49230923C>T - - CACNA1F_000188 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. 4 c.448G>A r.(?) p.(Gly150Arg) Parent #1 - pathogenic (recessive) g.49087385C>T g.49230923C>T - - CACNA1F_000188 - PubMed: Zhou 2018 - - Germline - - - 0 - DNA SEQ - - retinal disease 690322 PubMed: Zhou 2018 - M - China - - 0 - - 1 Christina Zeitz
+?/. 4 c.448G>A r.(?) p.(Gly150Arg) Maternal (inferred) - likely pathogenic g.49087385C>T - c.448G>A - CACNA1F_000188 - PubMed: Zhou-2011 - - Unknown - - - 0 - DNA SEQ blood WES retinal disease - PubMed: Zhou-2011 - M - China - - 0 - - 1 LOVD
+?/. - c.448G>C r.(?) p.(Gly150Arg) Unknown - likely pathogenic g.49087385C>G - AJ006216: c.448G>C - CACNA1F_000395 - PubMed: Zeitz-2009 - - Germline - - - 0 - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - 0 - - 1 LOVD
+/. 4 c.469G>C r.(?) p.(Ala157Pro) Unknown - pathogenic g.49087364C>G - c.469G>C - CACNA1F_000410 - PubMed: Bijveld 2013 - - Unknown - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - 0 - - 2 Julia Lopez
+/. 4 c.495_496insTACCTA r.(?) p.(Leu165_Leu166insTyrLeu) Parent #1 - pathogenic g.49087342_49087343insATAGGT g.49230880_49230881insATAGGT - - CACNA1F_000329 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
-/. - c.498C>G r.(?) p.(Leu166=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.522-16G>A r.(521_522ins522-14_522-1) p.(=) Maternal (confirmed) - 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 - DNA SEQ - gene panel CSNB FamC PubMed: Zeitz 2019, Journal: Zeitz 2019 3-generation family, 2 affected (2M), unaffected carrier female M - - - - 0 - - 2 Christina Zeitz
+?/. - c.522-16G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.522-16G>A r.(=) p.(=) Unknown - likely pathogenic g.49087087C>T - CACNA1F(NM_005183.3):c.522-16G>A - CACNA1F_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546G>T r.(?) p.(Gln182His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.579del r.(?) p.(Gly195GlufsTer8) Unknown - pathogenic g.49087015del g.49230553del CACNA1F(NM_005183.3):c.579delC (p.G195Efs*8) - CACNA1F_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.582G>A r.(?) p.(Gly194=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.584del r.(?) p.(Gly195Glufs*8) Parent #1 - pathogenic g.49087013del g.49230551del - - CACNA1F_000328 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
-?/. - c.585A>G r.(?) p.(Gly195=) Unknown - likely benign g.49087008T>C - CACNA1F(NM_005183.3):c.585A>G (p.G195=) - CACNA1F_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.611C>T r.(?) p.(Ala204Val) Parent #1 - pathogenic g.49086982G>A g.49230520G>A - - CACNA1F_000327 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. 5_10 c.621_1392delinsCTCATTG r.? p.? Unknown - pathogenic g.49083082_49086972delinsCAATGAG - c.621_1392delinsCTCATTG - CACNA1F_000407 - PubMed: Bijveld 2013 - - Unknown - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - M - Netherlands Dutch - 0 - - 1 Julia Lopez
+/. 5 c.646C>T r.(645_664del) p.(Leu216=) Unknown - 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 - DNA SEQ - - CSNB FamF PubMed: Menke 2016 2-generation family, 1 affected (M) M - - - - 0 - - 1 Christina Zeitz
+/. 5 c.647T>G r.(?) p.(Leu216Arg) Parent #1 - pathogenic g.49086946A>C g.49230484A>C - - CACNA1F_000326 - PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
+/. 5i c.664+1G>T r.spl p.? Parent #1 - pathogenic g.49086928C>A g.49230466C>A - - CACNA1F_000325 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - France - - 0 - - 1 Christina Zeitz
+/. 6 c.685T>C r.(?) p.(Ser229Pro) Parent #1 - pathogenic g.49086814A>G g.49230352A>G - - CACNA1F_000324 - PubMed: Hove 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam305 PubMed: Hove 2016 - - - Denmark - - 0 - - 1 LOVD
+?/. - c.685T>C r.(?) p.(Ser229Pro) Unknown - likely pathogenic g.49086814A>G - AJ006216: c.685T>C - CACNA1F_000324 - PubMed: Zeitz-2009 - - Germline - - - 0 - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - 0 - - 1 LOVD
+/. 6 c.731T>G r.(?) p.(Val244Gly) Parent #1 - pathogenic g.49086768A>C g.49230306A>C - - CACNA1F_000323 - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2019, Journal: Zeitz 2019 - - - Belgium - - 0 - - 1 Christina Zeitz
?/. - c.761T>C r.(?) p.(Ile254Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.761T>C r.(?) p.(Ile254Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.764G>A r.(?) p.(Gly255Glu) Parent #1 - pathogenic g.49086735C>T g.49230273C>T - - CACNA1F_000322 - PubMed: Zeitz 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - - - - 0 - - 1 Christina Zeitz
?/. - c.764G>A r.(?) p.(Gly255Glu) Unknown - VUS g.49086735C>T - CACNA1F(NM_005183.3):c.764G>A (p.G255E) - CACNA1F_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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