Full data view for gene CABP4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_145200.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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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     
?/. - c.-3433G>A r.(?) p.(=) Unknown - VUS g.67219462G>A - GPR152(NM_206997.1):c.734C>T (p.A245V) - CABP4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3089G>T r.(?) p.(=) Unknown - VUS g.67219806G>T - GPR152(NM_206997.1):c.390C>A (p.C130*) - CABP4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.67226084_67226925del - chr11:g.67226084_67226925del - CABP4_000040 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005184 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 5 c.1A>G r.(?) p.(Met1?) Both (homozygous) - likely pathogenic (recessive) g.67222895A>G g.67455424A>G CABP4 c.1A>G; p.Met1? - CABP4_000043 homozygous PubMed: Khan 2014, PubMed: Schatz 2017 - - Germline yes - - - - DNA ? blood retrospective study retinal disease Patient 5 PubMed: Khan 2014;PubMed: Schatz 2017 proband M - - - - - - - 1 LOVD
?/. 1 c.1A>G r.(?) p.(Met1?) Both (homozygous) ACMG VUS g.67222895A>G g.67455424A>G - - CABP4_000043 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073386 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.47T>C r.(?) p.(Ile16Thr) Unknown - VUS g.67222941T>C - CABP4(NM_145200.3):c.47T>C (p.I16T) - CABP4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53G>A r.(?) p.(Arg18His) Unknown - benign g.67222947G>A g.67455476G>A CABP4(NM_145200.5):c.53G>A (p.R18H) - CABP4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68C>T r.(?) p.(Ala23Val) Unknown - likely benign g.67222962C>T g.67455491C>T CABP4(NM_145200.3):c.68C>T (p.A23V) - CABP4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69G>A r.(?) p.(Ala23=) Unknown - likely benign g.67222963G>A - CABP4(NM_145200.5):c.69G>A (p.A23=) - CABP4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.81_82insA r.(?) p.(Pro28Thrfs*4) Both (homozygous) - pathogenic (recessive) g.67222975_67222976insA g.67455504_67455505insA - - CABP4_000016 - PubMed: Aldahmesh 2010 - - Germline yes - - - - DNA SEQ - - LCA family PubMed: Aldahmesh 2010 2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 4 Johan den Dunnen
+/. 1 c.81_82insA r.(?) p.(Pro28Thrfs*4) Both (homozygous) - pathogenic (recessive) g.67222975_67222976insA g.67455504_67455505insA - - CABP4_000016 - PubMed: Khan 2013 - - Germline - - - - - DNA SEQ - - CSNB FamB PubMed: Khan 2013 generation family, 3 affected, unaffected heterozygous carrier parents/relatives - yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. 1 c.81_82insA r.(?) p.(Pro28Thrfs*4) Both (homozygous) - pathogenic (recessive) g.67222975_67222976insA g.67455504_67455505insA - - CABP4_000016 - PubMed: Khan 2013 - - Germline - - - - - DNA SEQ - - CSNB FamC PubMed: Khan 2013 generation family, 3 affected, unaffected heterozygous carrier parents/relatives - yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. 1 c.81_82insA r.(?) p.(Pro28Thrfs*4) Both (homozygous) - pathogenic (recessive) g.67222975_67222976insA g.67455504_67455505insA - - CABP4_000016 - PubMed: Khan 2013 - - Germline - - - - - DNA SEQ - - CSNB FamD PubMed: Khan 2013 generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. 1 c.81_82insA r.(?) p.(Pro28Thrfs*4) Both (homozygous) - VUS g.67222975_67222976insA - c.81_82insA - CABP4_000016 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 Atypical inheritance and phenotype for PRPH2 - - Saudi Arabia - - - - - 1 LOVD
?/. 1 c.81_82insA r.(?) p.(Pro28Thrfs*4) Both (homozygous) - VUS g.67222975_67222976insA - c.81_82insA - CABP4_000016 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 5 c.81_82insA r.(?) p.(Pro28Thrfs*4) Both (homozygous) - likely pathogenic (recessive) g.67222975_67222976insA g.67455504_67455505insA CABP4 c.81-82insA; p.Pro28 - CABP4_000016 homozygous; error in protein annotation, termination codon after 4 and not 44 amino acids PubMed: Khan 2014, PubMed: Schatz 2017 - - Germline yes - - - - DNA ? blood retrospective study retinal disease Patient 2 PubMed: Khan 2014;PubMed: Schatz 2017 Saudi family proband M - - - - - - - 1 LOVD
+?/. - c.145C>T r.(?) p.(Arg49*) Parent #1 - likely pathogenic g.67223039C>T g.67455568C>T - - CABP4_000031 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 486 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 1 c.154C>T r.(?) p.(Arg52*) Both (homozygous) - pathogenic (recessive) g.67223048C>T g.67455577C>T - - CABP4_000017 - PubMed: Zeitz 2015, Journal: Zeitz 2015 - - Germline - - - - - DNA SEQ - - CSNB - PubMed: Zeitz 2015, Journal: Zeitz 2015 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.154C>T r.(?) p.(Arg52*) Both (homozygous) ACMG pathogenic g.67223048C>T NM_145200.5:c.154C>T - - CABP4_000017 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-242520 - Germline yes - - - - DNA SEQ-NG-I Buccal swab Retinal dystrophy panel RPar 2589235 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - yes None 1 Rocio Villafuerte-de la Cruz
?/. - c.155G>A r.(?) p.(Arg52Gln) Unknown - VUS g.67223049G>A - CABP4(NM_145200.3):c.155G>A (p.R52Q) - CABP4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214A>C r.(?) p.(Asn72His) Unknown - likely benign g.67223108A>C g.67455637A>C CABP4(NM_145200.3):c.214A>C (p.N72H) - CABP4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242C>T r.(?) p.(Ala81Val) Unknown - likely benign g.67223136C>T g.67455665C>T CABP4(NM_145200.5):c.242C>T (p.A81V) - CABP4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246C>A r.(?) p.(Gly82=) Unknown - benign g.67223140C>A g.67455669C>A CABP4(NM_145200.5):c.246C>A (p.G82=) - CABP4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.273del r.(?) p.(Ser92Leufs*40) Parent #1 - likely pathogenic g.67223167del g.67455696del CABP4, variant 1: c.273del/p.S92Lfs*40, variant 2: c.273del/p.S92Lfs*40 - CABP4_000039 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 963 PubMed: Weisschuh 2020 Filing key number: 431, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.273del r.(?) p.(Ser92Leufs*40) Parent #1 - likely pathogenic g.67223167del g.67455696del CABP4, variant 1: c.273del/p.S92Lfs*40, variant 2: c.273del/p.S92Lfs*40 - CABP4_000039 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 964 PubMed: Weisschuh 2020 Filing key number: 431, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.281G>A r.(?) p.(Arg94His) Parent #1 - VUS g.67223175G>A g.67455704G>A - - CABP4_000025 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143040005 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.281G>A r.(?) p.(Arg94His) Unknown - VUS g.67223175G>A - CABP4(NM_145200.3):c.281G>A (p.R94H) - CABP4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288C>T r.(?) p.(Ser96=) Unknown - likely benign g.67223182C>T g.67455711C>T CABP4(NM_145200.5):c.288C>T (p.S96=) - CABP4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>T r.(?) p.(Arg98*) Unknown - VUS g.67223186C>T g.67455715C>T CABP4 c.292C>T, p.Arg98Ter - CABP4_000038 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI678_001361 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 1 c.292C>T r.(?) p.(Arg98Ter) Both (homozygous) ACMG pathogenic g.67223186C>T g.67455715C>T - - CABP4_000038 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073385 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
-/. - c.315C>T r.(?) p.(His105=) Unknown - benign g.67223209C>T g.67455738C>T CABP4(NM_145200.5):c.315C>T (p.H105=) - CABP4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.352C>T r.(?) p.(Arg118Ter) Parent #1 - likely pathogenic g.67223246C>T g.67455775C>T c.C352T p.R118X - CABP4_000033 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam34 PubMed: Wang 2016 - - - China Han - - - - 1 LOVD
-/. - c.360C>T r.(?) p.(Phe120=) Unknown - benign g.67223254C>T g.67455783C>T CABP4(NM_145200.3):c.360C>T (p.F120=), CABP4(NM_145200.5):c.360C>T (p.F120=) - CABP4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360C>T r.(?) p.(Phe120=) Unknown - likely benign g.67223254C>T g.67455783C>T CABP4(NM_145200.3):c.360C>T (p.F120=), CABP4(NM_145200.5):c.360C>T (p.F120=) - CABP4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.366+1G>T r.spl p.? Parent #2 - likely pathogenic g.67223261G>T g.67455790G>T IVS1+1G>T - CABP4_000032 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 486 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.366+1G>T r.spl p.(?) Unknown - likely pathogenic g.67223261G>T g.67455790G>T CABP4 c.366+1G>T, - CABP4_000032 homozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease CSNB PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
?/. - c.367-45G>A r.(=) p.(=) Unknown - VUS g.67223614G>A g.67456143G>A CABP4(NM_001300895.1):c.7G>A (p.E3K), CABP4(NM_001300895.3):c.7G>A (p.E3K) - CABP4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.367-45G>A r.(=) p.(=) Unknown - likely benign g.67223614G>A - CABP4(NM_001300895.1):c.7G>A (p.E3K), CABP4(NM_001300895.3):c.7G>A (p.E3K) - CABP4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.370C>T r.370c>u p.Arg124Cys Maternal (confirmed) - pathogenic (recessive) g.67223662C>T g.67456191C>T - - CABP4_000015 - PubMed: Zeitz 2006 - rs121917828 Germline - - - - - DNA, RNA RT-PCR, SEQ - - CSNB FamB PubMed: Zeitz 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland - - - - - 1 Johan den Dunnen
+/. - c.370C>T r.(?) p.(Arg124Cys) Parent #1 - pathogenic g.67223662C>T g.67456191C>T - - CABP4_000015 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121917828 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 3 c.370C>T r.(?) p.(Arg124Cys) Unknown - pathogenic g.67223662C>T - - - CABP4_000015 - PubMed: Zeitz-2009 - - Germline - - - - - DNA SEQ, arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - Germany - - - - - 1 LOVD
+?/. - c.370C>T r.(?) p.(Arg124Cys) Unknown - likely pathogenic g.67223662C>T - - - CABP4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370C>T r.(?) p.(Arg124Cys) Unknown ACMG VUS g.67223662C>T g.67456191C>T - - CABP4_000015 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CSNB-86 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.415G>T r.(?) p.(Glu139Ter) Unknown ACMG likely pathogenic g.67223787G>T g.67456316G>T - - CABP4_000048 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066825 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.67223827G>A g.67456356G>A - - CABP4_000026 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143257000 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.464G>A r.(?) p.(Gly155Asp) Parent #2 - likely pathogenic g.67223836G>A g.67456365G>A c.G464A p.G155D - CABP4_000034 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam34 PubMed: Wang 2016 - - - China Han - - - - 1 LOVD
?/. - c.484G>C r.(?) p.(Gly162Arg) Unknown - VUS g.67223856G>C g.67456385G>C CABP4(NM_145200.3):c.484G>C (p.G162R) - CABP4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.541+7C>T r.(=) p.(=) Unknown - benign g.67223920C>T g.67456449C>T - - CABP4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.541+8A>C r.(=) p.(=) Unknown - benign g.67223921A>C g.67456450A>C - - CABP4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547G>C r.(?) p.(Gly183Arg) Unknown - VUS g.67225049G>C - CABP4(NM_001300895.1):c.232G>C (p.G78R) - CABP4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547G>C r.(?) p.(Gly183Arg) Unknown ACMG VUS g.67225049G>C g.67457578G>C CABP4:NM_145200 c.G547C, p.G183R - CABP4_000027 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-402 PubMed: Rodriguez-Munoz 2020 family fRPN-183, proband F - Spain - - - - - 1 LOVD
+/. - c.623dup r.(?) p.(Arg209AlafsTer11) Unknown - pathogenic g.67225125dup g.67457654dup - - CABP4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639C>T r.(?) p.(Ile213=) Unknown - likely benign g.67225141C>T - CABP4(NM_001300895.1):c.324C>T (p.I108=) - CABP4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646C>T r.(?) p.(Arg216Ter) Unknown - pathogenic g.67225148C>T g.67457677C>T CABP4(NM_001300895.1):c.331C>T (p.R111*) - CABP4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.646C>T r.(?) p.(Arg216*) Both (homozygous) - pathogenic (recessive) g.67225148C>T g.67457677C>T - - CABP4_000011 - PubMed: Littink 2009 - - Germline yes - - - - DNA SEQ - - CSNB FamPatII1/1 PubMed: Littink 2009 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Netherlands - - - - - 2 Johan den Dunnen
+/. - c.646C>T r.(?) p.(Arg216Ter) Unknown - pathogenic g.67225148C>T - CABP4(NM_001300895.1):c.331C>T (p.R111*) - CABP4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646C>T r.(?) p.(Arg216*) Unknown - pathogenic g.67225148C>T g.67457677C>T - - CABP4_000011 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 7914 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.646C>T r.(?) p.(Arg216*) Unknown - pathogenic g.67225148C>T g.67457677C>T - - CABP4_000011 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 7914 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
?/. 5 c.646C>T r.(?) p.(Arg216*) Both (homozygous) - VUS g.67225148C>T - c.646C>T - CABP4_000011 - PubMed: Littink 2010 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Littink 2010 - - no Netherlands - - - - - 1 LOVD
+/. 5 c.646C>T r.(?) p.(Arg216*) Both (homozygous) - pathogenic g.67225148C>T - c.646C>T - CABP4_000011 - PubMed: Bijveld 2013 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 2 female, 1 male - - Netherlands Dutch - - - - 3 Julia Lopez
+?/. - c.646C>T r.(?) p.(Arg216*) Unknown ACMG likely pathogenic g.67225148C>T g.67457677C>T CABP4 c.773A>T, p.(Asn258Ile), c.646C>T, p.(Arg216*) - CABP4_000011 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 67 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.646C>T r.(?) p.(Arg216*) Unknown ACMG pathogenic g.67225148C>T g.67457677C>T CABP4 c.646C>Tp.(Arg216*), c.773A>T, p.(Asn258Ile) - CABP4_000011 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 363 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.646C>T r.(?) p.(Arg216*) Parent #1 - likely pathogenic g.67225148C>T g.67457677C>T CABP4, variant 1: c.646C>T/p.R216*, variant 2: c.646C>T/p.R216* - CABP4_000011 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 343 PubMed: Weisschuh 2020 Filing key number: 115, congenital stationary night blindness, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.646C>T r.(?) p.(Arg216Ter) Paternal (confirmed) - likely pathogenic (recessive) g.67225148C>T g.67457677C>T CABP4 c.646C > T, p.Arg216* - CABP4_000011 heterozygous PubMed: Smirnov 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease II:4 PubMed: Smirnov 2018 proband, an isolated case - - - - - - - - 1 LOVD
+/. - c.646C>T r.(?) p.(Arg216Ter) Unknown ACMG pathogenic g.67225148C>T g.67457677C>T - - CABP4_000011 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 073347 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.651+4C>T r.spl? p.? Unknown ACMG VUS g.67225157C>T g.67457686C>T - - CABP4_000046 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-464 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.651+8G>A r.(=) p.(=) Unknown - likely benign g.67225161G>A g.67457690G>A CABP4(NM_001300895.1):c.336+8G>A - CABP4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.651+15G>A r.(=) p.(=) Unknown - VUS g.67225168G>A g.67457697G>A CABP4(NM_001300895.3):c.336+15G>A - CABP4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652-11G>A r.(=) p.(=) Unknown - benign g.67225831G>A - CABP4(NM_001300895.3):c.337-11G>A - CABP4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.673C>T r.(?) p.(Arg225Ter) Unknown - pathogenic g.67225863C>T - CABP4(NM_001300895.1):c.358C>T (p.R120*) - CABP4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.673C>T r.(?) p.(Arg225*) Both (homozygous) - pathogenic (recessive) g.67225863C>T - 11:67225863C>T ENST00000325656.5:c.673C>T (Arg225Ter) - CABP4_000028 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004712 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.673C>T r.(?) p.(Arg225*) Both (homozygous) - likely pathogenic (recessive) g.67225863C>T g.67458392C>T - - CABP4_000028 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 16009408 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.673C>T r.(?) p.(Arg225*) Both (homozygous) - likely pathogenic g.67225863C>T g.67458392C>T CABP4 c.673C>T, p.Arg225Ter - CABP4_000028 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G004712 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.673C>T r.(?) p.(Arg225Ter) Maternal (confirmed) - likely pathogenic (recessive) g.67225863C>T g.67458392C>T CABP4 c.673C > T, p.Arg225* - CABP4_000028 heterozygous PubMed: Smirnov 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease II:4 PubMed: Smirnov 2018 proband, an isolated case - - - - - - - - 1 LOVD
+?/. - c.673C>T r.(?) p.(Arg225Ter) Unknown - likely pathogenic g.67225863C>T - CABP4(NM_001300895.1):c.358C>T (p.R120*) - CABP4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674G>A r.(?) p.(Arg225Gln) Unknown - VUS g.67225864G>A g.67458393G>A CABP4(NM_145200.3):c.674G>A (p.R225Q) - CABP4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.757C>T r.(?) p.(Arg253*) Both (homozygous) - pathogenic g.67225947C>T g.67458476C>T - - CABP4_000013 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - M yes Israel Arab-Muslim - - - - 1 Dror Sharon
+/. - c.757C>T r.(?) p.(Arg253*) Unknown ACMG pathogenic g.67225947C>T - - - CABP4_000013 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
?/. - c.758G>A r.(?) p.(Arg253Gln) Unknown ACMG VUS g.67225948G>A g.67458477G>A - - CABP4_000047 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-464 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.773A>T r.(?) p.(Asn258Ile) Unknown ACMG likely pathogenic g.67225963A>T g.67458492A>T CABP4 c.773A>T, p.(Asn258Ile), c.646C>T, p.(Arg216*) - CABP4_000035 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 67 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.773A>T r.(?) p.(Asn258Ile) Both (homozygous) ACMG likely pathogenic g.67225963A>T g.67458492A>T CABP4 c.773A>T, p.(Asn258Ile), c.773A>T, p.(Asn258Ile) - CABP4_000035 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 68 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.773A>T r.(?) p.(Asn258Ile) Unknown ACMG VUS g.67225963A>T g.67458492A>T CABP4 c.646C>Tp.(Arg216*), c.773A>T, p.(Asn258Ile) - CABP4_000035 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 363 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-?/. - c.799+15C>T r.(=) p.(=) Unknown - likely benign g.67226004C>T - CABP4(NM_001300895.3):c.484+15C>T - CABP4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.800-5C>T r.spl? p.? Unknown - benign g.67226097C>T g.67458626C>T - - CABP4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.800_801del r.800_801del p.Glu267Valfs*92 Both (homozygous) - pathogenic (recessive) g.67226102_67226103del g.67458631_67458632del 800_801delAG - CABP4_000014 - PubMed: Zeitz 2006 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CSNB FamA PubMed: Zeitz 2006 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M - Switzerland - - - - - 2 Johan den Dunnen
+/. 6 c.800_801del r.800_801del p.Glu267Valfs*92 Paternal (confirmed) - pathogenic (recessive) g.67226102_67226103del g.67458631_67458632del 800_801delAG - CABP4_000014 - PubMed: Zeitz 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CSNB FamB PubMed: Zeitz 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland - - - - - 1 Johan den Dunnen
+?/. - c.800_801del r.(?) p.(Glu267ValfsTer92) Unknown - likely pathogenic g.67226102_67226103del g.67458631_67458632del CABP4(NM_001300895.3):c.485-2_485-1delAG - CABP4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.800_801del r.(?) p.(Glu267Valfs*92) Unknown - pathogenic g.67226102_67226103delAG - c.800_801delAG (p.Glu267ValfsX92) - CABP4_000014 - PubMed: Zeitz-2009 - - Germline - - - - - DNA SEQ, arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - Germany - - - - - 1 LOVD
+?/. - c.800_801del r.(?) p.(Glu267Valfs*92) Parent #1 - likely pathogenic g.67226102_67226103del g.67458631_67458632del CABP4, variant 1: c.800_801del/p.E267Vfs*92, variant 2: c.800_801del/p.E267Vfs*92 - CABP4_000014 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1041 PubMed: Weisschuh 2020 Filing key number: 610, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.800_801del r.(?) p.(Glu267ValfsTer92) Unknown ACMG pathogenic (recessive) g.67226102_67226103del g.67458631_67458632del - - CABP4_000014 ACMG PM2, PVS1_MODERATE, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CSNB-86 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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